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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
OR1A1_chr17_3202667_3223896	3221547	AATATATT others(29): Show AATATATTATATATTATTATATATTATATAATATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	434	0.0046	-36	c.49 others(47): Show c.4998_*5033delATATATTATATATTATTATATATTATATAATATA TT		OR1A1	ENSG00000172146.4	transcript	ENST00000641732.2	protein_coding					2652		chr17	TogoVar
OR2AG1_chr11_6778020_6796558	6779192	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0002 a0002c0002t0005g0002	1	468	0.0021	-36	c.-42 others(47): Show c.-4299_-4264delTATATATATATATATATATATATATATTTTTTTT TT		OR2AG1	ENSG00000279486.6	transcript	ENST00000641258.1	protein_coding					3827		chr11	TogoVar
OR2AG1_chr11_6778020_6796558	6779198	ATATATAT others(29): Show ATATATATATATATATATATATTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	468	0.0021	-36	c.-42 others(47): Show c.-4293_-4258delTATATATATATATATATATATTTTTTTTTTTTTT TT		OR2AG1	ENSG00000279486.6	transcript	ENST00000641258.1	protein_coding					3821		chr11	TogoVar
OR2M3_chr1_248192265_248217925	248213417	ATATATAT others(29): Show ATATATATGTATATATATATATGTATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG01074.hp2 others(7): Show HG00280.hp2 HG00558.hp2 HG01074.hp2 HG02148.hp1 HG02723.hp2 NA18943.hp2 NA18963.hp1 NA18990.hp1 NA19084.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0058 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0058 a0001c0001t0065	a0001c0001t0001g0001 a0001c0001t0011g0001 a0001c0001t0058g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0011g0001 a0001c0001t0058g0001 a0001c0001t0065g0001	10	410	0.0244	-36	c.94 others(47): Show c.9412_*9447delTATATATGTATATATATATATGTATATATATATA TG		OR2M3	ENSG00000228198.3	transcript	ENST00000641626.1	protein_coding					493		chr1	TogoVar
OR2T12_chr1_248285139_248308424	248306522	GCCTGAGG others(29): Show GCCTGAGGACTGGAGCCGCCCTGAGGACTGGAGCCGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0012 a0012c0013t0012	a0012c0013t0012g0030 a0012c0013t0012g0030	1	406	0.0025	-36	c.-34 others(47): Show c.-3402_-3367delGCGGCTCCAGTCCTCAGGGCGGCTCCAGTCCTCA GG		OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding					3099		chr1	TogoVar
OR4M2B_chr15_21632909_21643992	21642173	GTATATAT others(29): Show GTATATATATATATACACACATATATATATGTATGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0000 a0004c0004t0001g0000	1	215	0.0047	-36	c.32 others(47): Show c.3226_*3261delTATATATATATATACACACATATATATATGTATG TA		OR4M2B	ENSG00000182974.3	transcript	ENST00000332663.3	protein_coding					3182		chr15	TogoVar
OR4S1_chr11_48301223_48312152	48306008	TATAATAT others(29): Show TATAATATATATTATTATATATAATATATAATTTATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0000 a0001c0002t0000	a0001c0002t0000g0000 a0001c0002t0000g0000	1	426	0.0024	-36	c.-21 others(45): Show c.-214_-179delATAATATATATTATTATATATAATATATAATTTATA		OR4S1	ENSG00000176555.1	transcript	ENST00000319988.1	protein_coding					214		chr11	TogoVar
OR51B6_chr11_5346508_5357446	5353134	GCCATTTC others(29): Show GCCATTTCCCTCAATTACTTTCTTCAATGAGGGTAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0000 a0004c0005t0000	a0004c0005t0000g0000 a0004c0005t0000g0000	1	466	0.0022	-36	c.68 others(45): Show c.689_*724delCCATTTCCCTCAATTACTTTCTTCAATGAGGGTAAA		OR51B6	ENSG00000176239.7	transcript	ENST00000380219.1	protein_coding					689		chr11	TogoVar
OR52E5_chr11_5888208_5907730	5901221	GTCATCAT others(29): Show GTCATCATTGTCAGGACTTTGGTATTTGTGACTCCAT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02258.hp1 HG03516.hp2 NA21309.hp1 HG02258.hp1 HG03516.hp2 NA21309.hp1	a0010 a0014 a0010 a0014	a0010c0014 a0014c0019 a0010c0014 a0014c0019	a0010c0014t0001 a0014c0019t0006 a0010c0014t0001 a0014c0019t0006	a0010c0014t0001g0076 a0010c0014t0001g0082 a0014c0019t0006g0006 a0010c0014t0001g0076 a0010c0014t0001g0082 a0014c0019t0006g0006	3	464	0.0065	-36	c.449 others(43): Show c.449_484delTCATTGTCAGGACTTTGGTATTTGTGACTCCATTCA	p.Ile others(13): Show p.Ile150_Phe161del	OR52E5	ENSG00000277932.2	transcript	ENST00000610445.2	protein_coding	3/3	739/2244	449/984	150/327		INFO_REALIGN_3_PRIME	chr11	TogoVar
OR52N4_chr11_5749243_5760958	5757128	GATTCCCC others(29): Show GATTCCCCAAAGGAAGCTAAGGTTCAGAGAACTGTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	472	0.0021	-36	c.14 others(47): Show c.1423_*1458delATTCCCCAAAGGAAGCTAAGGTTCAGAGAACTGT TT		OR52N4	ENSG00000181074.5	transcript	ENST00000641350.2	protein_coding					1171		chr11	TogoVar
OR5F1_chr11_55988681_55999625	55993103	TGTGTGTG others(29): Show TGTGTGTGAGAGAGAGAGAGAGAAAGACAGACAGGCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG01433.hp1 others(5): Show HG00099.hp2 HG00323.hp2 HG01433.hp1 HG01496.hp2 HG02818.hp1 HG02965.hp1 HG03139.hp1 NA20129.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0000 a0003c0004t0000	a0003c0004t0000g0000 a0003c0004t0000g0000	8	436	0.0184	-36	c.54 others(45): Show c.542_*577delTGCCTGTCTGTCTTTCTCTCTCTCTCTCTCACACAC		OR5F1	ENSG00000149133.1	transcript	ENST00000278409.1	protein_coding					577		chr11	TogoVar
OR5M9_chr11_56457469_56468401	56460726	TGAAATAA others(29): Show TGAAATAATAAATTTATGCTGTTTAAGTTGTTAAAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	452	0.0022	-36	c.17 others(47): Show c.1707_*1742delGTTTTAACAACTTAAACAGCATAAATTTATTATT TC		OR5M9	ENSG00000150269.1	transcript	ENST00000279791.1	protein_coding					1742		chr11	TogoVar
OR6J1_chr14_22625929_22649352	22636225	GCCCTCTC others(29): Show GCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0010	1	362	0.0028	-36	c.-27 others(53): Show c.-27-1423_-27-1388delAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGG		OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1						chr14	TogoVar
OR6N1_chr1_158759236_158777195	158769109	GCCATGGG others(29): Show GCCATGGGCTGGATATGGAGATAAATCAGGAAAATTT	G G	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0066 a0003c0001t0001g0066	1	472	0.0021	-36	c.-18 others(53): Show c.-18-2445_-18-2410delAAATTTTCCTGATTTATCTCCATATCCA GCCCATGG		OR6N1	ENSG00000197403.5	transcript	ENST00000641846.1	protein_coding	1/1						chr1	TogoVar
OR7A10_chr19_14835466_14853922	14849363	TTTCTTCT others(29): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02895.hp1 NA18612.hp1 others(1): Show HG02572.hp1 HG02895.hp1 NA18612.hp1 NA19055.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0004c0006	a0001c0001t0001 a0001c0002t0003 a0002c0004t0004 others(1): Show a0001c0001t0001 a0001c0002t0003 a0002c0004t0004 a0004c0006t0004	a0001c0001t0001g0021 a0001c0002t0003g0055 a0002c0004t0004g0037 others(1): Show a0001c0001t0001g0021 a0001c0002t0003g0055 a0002c0004t0004g0037 a0004c0006t0004g0241	4	488	0.0082	-36	c.-91 others(45): Show c.-912_-877delGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA		OR7A10	ENSG00000127515.3	transcript	ENST00000641129.1	protein_coding					442		chr19	TogoVar
ORC5_chr7_104121341_104213013	104205496	CAAACATT others(29): Show CAAACATTTATTACATTCAAGTCACTAAGTTAAACAT	C C	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	366	0.0027	-36	c.73- others(51): Show c.73-1298_73-1263delATGTTTAACTTAGTGACTTGAATGTAATAA ATGTTT		ORC5	ENSG00000164815.11	transcript	ENST00000297431.9	protein_coding	1/13						chr7	TogoVar
OSBPL10_chr3_31655825_31986262	31812718	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02027.hp1 HG02135.hp1 others(1): Show HG01167.hp2 HG02027.hp1 HG02135.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 a0002c0005t0007	a0001c0001t0001g0023 a0001c0002t0001g0034 a0002c0004t0001g0040 others(1): Show a0001c0001t0001g0023 a0001c0002t0001g0034 a0002c0004t0001g0040 a0002c0005t0007g0171	4	186	0.0215	-36	c.729 others(55): Show c.729+17286_729+17321delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT		OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11						chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31812786	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0122 a0001c0002t0001g0122	1	186	0.0054	-36	c.729 others(55): Show c.729+17218_729+17253delTTCTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT		OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11						chr3	TogoVar
OSCAR_chr19_54089668_54105803	54095546	TCAGGAAG others(29): Show TCAGGAAGGAGGGGCTGGGGGCCTGGAGTCCTGGGTC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01952.hp1 HG01975.hp2 others(4): Show HG01261.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02148.hp2 NA19003.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0028 a0001c0005t0002g0078 a0001c0005t0002g0164 others(3): Show a0001c0005t0002g0028 a0001c0005t0002g0078 a0001c0005t0002g0164 a0001c0005t0002g0195 a0001c0005t0002g0198 a0001c0005t0002g0223	7	443	0.0158	-36	c.656 others(51): Show c.656-225_656-190delGACCCAGGACTCCAGGCCCCCAGCCCCTCC TTCCTG		OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding	4/4						chr19	TogoVar
OSGEPL1_chr2_189741660_189767792	189742905	GACACACA others(29): Show GACACACACACACACACACACACACACACACACACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	358	0.0028	-36	c.42 others(47): Show c.4256_*4291delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT		OSGEPL1	ENSG00000128694.12	transcript	ENST00000264151.10	protein_coding					3754		chr2	TogoVar
OSTF1_chr9_75083514_75152265	75128545	TTTTGTCC others(29): Show TTTTGTCCATATATATATATATATATATATTTTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0284 a0001c0001t0005g0284	1	366	0.0027	-36	c.132 others(51): Show c.132+927_132+962delTTTGTCCATATATATATATATATATATATT TTGTCC		OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9						chr9	TogoVar
OTOA_chr16_21658968_21765729	21707593	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01516.hp1 HG02027.hp1 others(4): Show HG01515.hp1 HG01516.hp1 HG02027.hp1 HG02080.hp1 HG02132.hp1 HG02132.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 a0001c0001t0001 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0288 others(4): Show a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0288 a0001c0002t0002g0082 a0001c0004t0001g0098 a0001c0004t0001g0099 a0001c0004t0001g0100	7	320	0.0219	-36	c.110 others(55): Show c.1105-2265_1105-2230delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT		OTOA	ENSG00000155719.18	transcript	ENST00000646100.2	protein_coding	12/28					INFO_REALIGN_3_PRIME	chr16	TogoVar
OTUD7A_chr15_31470398_31875673	31753685	AGATATAT others(29): Show AGATATATATATATATATTATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0076 a0002c0003t0003g0076	1	244	0.0041	-36	c.-99 others(55): Show c.-99-96644_-99-96609delATATATATATATATATATAATATATA TATATATATC		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12						chr15	TogoVar
OXR1_chr8_106265190_106757694	106405141	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02723.hp1 HG03579.hp1 others(1): Show HG02004.hp1 HG02723.hp1 HG03579.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0001 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0025 a0001c0001t0001g0062 a0001c0001t0004g0063 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0062 a0001c0001t0004g0063 a0001c0001t0008g0011	4	172	0.0233	-36	c.23+ others(53): Show c.23+45531_23+45566delTATATATATATATATATATATATATATA TATATATA		OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
OXR1_chr8_106265190_106757694	106405168	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATAGT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	172	0.0058	-36	c.23+ others(53): Show c.23+45533_23+45568delTATATATATATATATATATATATATATA TATATAGT		OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	2/16						chr8	TogoVar
OXSR1_chr3_38160537_38260484	38161421	CATATTTC others(29): Show CATATTTCATTTACATAATATAGTTCATATATTATGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0246 a0001c0001t0004g0246	1	248	0.0040	-36	c.-44 others(47): Show c.-4455_-4420delATATTTCATTTACATAATATAGTTCATATATTAT GT		OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding					4115		chr3	TogoVar
P2RX4_chr12_121205129_121239106	121221140	TTGTGTGT others(29): Show TTGTGTGTGCGTGTGTCTGTGTGTGTTTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02723.hp2 HG02809.hp1 others(6): Show HG02257.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0296 a0001c0003t0001g0335 a0001c0003t0001g0336 others(6): Show a0001c0003t0001g0296 a0001c0003t0001g0335 a0001c0003t0001g0336 a0001c0003t0001g0337 a0001c0003t0001g0339 a0001c0003t0001g0342 a0001c0003t0001g0343 a0001c0003t0001g0344 a0001c0003t0001g0345	9	388	0.0232	-36	c.283 others(51): Show c.283-764_283-729delCGTGTGTCTGTGTGTGTTTGTGTGTGTGTG TGTGTG		P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX5_chr17_3668227_3701155	3699874	AAAGGAAG others(29): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00609.hp1 others(23): Show HG00323.hp1 HG00323.hp2 HG00609.hp1 HG00609.hp2 HG01070.hp2 HG01255.hp1 HG01261.hp2 HG01515.hp1 HG02572.hp2 HG02738.hp1 HG03017.hp1 HG03492.hp2 HG03654.hp2 HG03927.hp2 NA18944.hp1 NA18952.hp2 NA18971.hp1 NA18995.hp1 NA18998.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19055.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0174 a0001c0001t0001g0175 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0261 a0001c0001t0001g0276 a0001c0001t0001g0283 a0001c0001t0001g0291 a0001c0001t0001g0331 a0001c0001t0002g0137 a0001c0001t0002g0146 a0001c0001t0002g0284 a0001c0006t0001g0182 a0002c0002t0001g0009 a0002c0002t0001g0115 a0002c0002t0001g0122 a0002c0002t0001g0151 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0159 a0002c0002t0002g0002 a0002c0002t0002g0117 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0343	26	362	0.0718	-36	c.-39 others(47): Show c.-3905_-3870delCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TT		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding					3720		chr17	TogoVar
P2RX7_chr12_121127876_121193032	121163597	GTAGATAG others(29): Show GTAGATAGATAGATAGATAGATAGATAGATAGATAGA	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0025 a0025	a0025c0029 a0025c0029	a0025c0029t0003 a0025c0029t0003	a0025c0029t0003g0282 a0025c0029t0003g0282	1	366	0.0027	-36	c.533 others(53): Show c.533+1094_533+1129delTAGATAGATAGATAGATAGATAGATAGA TAGATAGA		P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
PABPN1L_chr16_88858333_88871660	88863193	TCCCGTCC others(29): Show TCCCGTCCCACGGGGAGACGCGGAGGGAACCGCGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(211): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04184.hp2 HG04204.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18953.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19077.hp2 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0006 a0008 a0011 a0013 a0015	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0020 a0002c0005 a0004c0007 a0005c0010 a0006c0009 a0008c0011 a0011c0013 a0013c0016 a0015c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0002t0005 a0001c0003t0001 a0001c0003t0002 a0001c0004t0002 a0001c0020t0005 a0002c0005t0001 a0004c0007t0001 a0005c0010t0001 a0006c0009t0001 a0008c0011t0001 a0011c0013t0001 a0013c0016t0003 a0015c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(42): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0002g0009 a0001c0001t0002g0037 a0001c0001t0003g0004 a0001c0001t0003g0033 a0001c0001t0004g0007 a0001c0001t0007g0032 a0001c0001t0008g0054 a0001c0002t0005g0016 a0001c0002t0005g0028 a0001c0003t0001g0041 a0001c0003t0002g0027 a0001c0004t0002g0025 a0001c0020t0005g0073 a0002c0005t0001g0017 a0004c0007t0001g0024 a0005c0010t0001g0039 a0006c0009t0001g0031 a0008c0011t0001g0040 a0011c0013t0001g0068 a0013c0016t0003g0059 a0015c0018t0001g0072	214	452	0.4735	-36	c.52 others(45): Show c.527_*562delGCGCGCGGTTCCCTCCGCGTCTCCCCGTGGGACGGG		PABPN1L	ENSG00000205022.9	transcript	ENST00000419291.7	protein_coding					139		chr16	TogoVar
PABPN1L_chr16_88858333_88871660	88863229	CCCCGTCC others(29): Show CCCCGTCCCACGGGGAGACGCGGAGGGAACCGCGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG02647.hp1 others(14): Show HG01109.hp2 HG02055.hp1 HG02647.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03130.hp2 HG03209.hp2 HG03486.hp1 HG03579.hp1 NA18989.hp2 NA19030.hp1 NA19084.hp2 homoSapiens_chm13v2.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0003 a0001c0017 others(1): Show a0001c0001 a0001c0003 a0001c0017 a0009c0019	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0017t0002 a0009c0019t0009	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0052 a0001c0001t0004g0007 a0001c0003t0001g0042 a0001c0017t0002g0069 a0009c0019t0009g0074	17	452	0.0376	-36	c.49 others(45): Show c.491_*526delACACGCGGTTCCCTCCGCGTCTCCCCGTGGGACGGG		PABPN1L	ENSG00000205022.9	transcript	ENST00000419291.7	protein_coding					103		chr16	TogoVar
PACRG_chr6_162722974_163320500	163036857	TATCCATC others(29): Show TATCCATCCATCCATCCATCCATCCATCCATCCATCC	T T	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA19063.hp1 NA18989.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0123 a0001c0001t0004g0082 a0001c0001t0001g0123 a0001c0001t0004g0082	2	130	0.0154	-36	c.292 others(55): Show c.292-25270_292-25235delCCATCCATCCATCCATCCATCCATCC ATCCATCCAT		PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
PACSIN1_chr6_34461076_34540223	34536108	TTGAATCT others(29): Show TTGAATCTATTTGCCACCCCATCTTCCTTACTCCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00621.hp2 HG01069.hp2 others(42): Show HG00280.hp1 HG00621.hp2 HG01069.hp2 HG01123.hp2 HG01175.hp2 HG01516.hp2 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02027.hp2 HG02145.hp1 HG02258.hp1 HG02293.hp1 HG02683.hp2 HG02698.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03927.hp1 NA18940.hp1 NA18956.hp2 NA18957.hp2 NA18964.hp1 NA18966.hp1 NA18970.hp1 NA18975.hp1 NA18989.hp2 NA18990.hp2 NA18999.hp2 NA19030.hp2 NA19054.hp2 NA19068.hp2 NA19074.hp2 NA19078.hp2 NA19088.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0017 others(6): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0017 a0001c0001t0026 a0001c0001t0030 a0001c0001t0033 a0002c0002t0002 a0002c0002t0024 a0002c0002t0032	a0001c0001t0003g0056 a0001c0001t0003g0082 a0001c0001t0003g0234 others(42): Show a0001c0001t0003g0056 a0001c0001t0003g0082 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0243 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0254 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0285 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0005g0021 a0001c0001t0005g0061 a0001c0001t0005g0068 a0001c0001t0005g0096 a0001c0001t0005g0233 a0001c0001t0005g0242 a0001c0001t0005g0284 a0001c0001t0005g0299 a0001c0001t0005g0301 a0001c0001t0017g0084 a0001c0001t0017g0093 a0001c0001t0026g0229 a0001c0001t0030g0076 a0001c0001t0033g0085 a0002c0002t0002g0006 a0002c0002t0002g0033 a0002c0002t0002g0099 a0002c0002t0002g0154 a0002c0002t0002g0175 a0002c0002t0002g0203 a0002c0002t0002g0246 a0002c0002t0024g0224 a0002c0002t0032g0081	45	310	0.1452	-36	c.35 others(47): Show c.3579_*3614delTGAATCTATTTGCCACCCCATCTTCCTTACTCCT CC		PACSIN1	ENSG00000124507.11	transcript	ENST00000244458.7	protein_coding					886		chr6	TogoVar
PADI1_chr1_17200128_17251007	17241719	AGTCGGAA others(29): Show AGTCGGAATCGGGATGGAATCAGGGTTGGAAGTGAAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02630.hp1 HG02896.hp2 others(2): Show HG01884.hp1 HG02630.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2	a0002 a0002	a0002c0007 a0002c0026 a0002c0007 a0002c0026	a0002c0007t0001 a0002c0026t0001 a0002c0007t0001 a0002c0026t0001	a0002c0007t0001g0011 a0002c0007t0001g0216 a0002c0007t0001g0383 others(1): Show a0002c0007t0001g0011 a0002c0007t0001g0216 a0002c0007t0001g0383 a0002c0026t0001g0325	5	406	0.0123	-36	c.175 others(55): Show c.1758+1095_1758+1130delGAAGTGAATGTCGGAATCGGGATGGA ATCAGGGTTG		PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172370	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	432	0.0023	-36	c.46 others(47): Show c.4672_*4707delTATATATATATATATATATATATATATATATATA TT		PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding					1326		chr11	TogoVar
PAGE4_chrX_49824303_49839264	49829137	AAGCCCTT others(29): Show AAGCCCTTCTCAGCACCGAGCAGGCCCTTCCTCCAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	290	0.0035	-36	c.-24 others(45): Show c.-244_-209delAGCCCTTCTCAGCACCGAGCAGGCCCTTCCTCCAGG		PAGE4	ENSG00000101951.17	transcript	ENST00000218068.7	protein_coding					165		chrX	TogoVar
PAH_chr12_102831889_102922244	102848168	CAGGACAC others(29): Show CAGGACACCAAGAGATGGTAGGGGTTGAGGGTAGAGT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00639.hp1 others(77): Show HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00741.hp2 HG01069.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18942.hp1 NA18992.hp1 NA19004.hp2 NA19007.hp2 NA19012.hp1 NA19043.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0001c0007 others(4): Show a0001c0001 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0003c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0006t0001 a0001c0007t0002 a0001c0008t0023 a0001c0008t0024 a0001c0009t0005 a0001c0009t0013 a0001c0012t0002 a0003c0013t0005	a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0186 others(76): Show a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0155 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0188 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0205 a0001c0001t0002g0212 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0004g0232 a0001c0001t0004g0262 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0006g0229 a0001c0001t0006g0230 a0001c0001t0009g0298 a0001c0001t0009g0299 a0001c0001t0009g0305 a0001c0001t0009g0306 a0001c0001t0012g0146 a0001c0001t0012g0190 a0001c0006t0001g0213 a0001c0007t0002g0178 a0001c0008t0023g0242 a0001c0008t0024g0241 a0001c0009t0005g0235 a0001c0009t0005g0236 a0001c0009t0005g0238 a0001c0009t0013g0239 a0001c0009t0013g0240 a0001c0012t0002g0214 a0003c0013t0005g0237	80	312	0.2564	-36	c.913 others(53): Show c.913-1253_913-1218delACTCTACCCTCAACCCCTACCATCTCTT GGTGTCCT		PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	8/12						chr12	TogoVar
PAK2_chr3_196734857_196837647	196827809	GCAGTTTG others(29): Show GCAGTTTGTGCATCGTATCAATCCTCAGACCTGTTTA	G G	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0168 a0001c0001t0015g0168	1	178	0.0056	-36	c.148 others(53): Show c.1489-274_1489-239delATCCTCAGACCTGTTTACAGTTTGTGCA TCGTATCA		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
PALLD_chr4_168492052_168933441	168794494	GCACACAC others(29): Show GCACACACACACGCACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA21309.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0010 a0002c0003t0004 a0001c0002t0010 a0002c0003t0004	a0001c0002t0010g0093 a0002c0003t0004g0041 a0001c0002t0010g0093 a0002c0003t0004g0041	2	156	0.0128	-36	c.196 others(57): Show c.1964+82581_1964+82616delACGCACACACACACACACACACAC ACACACACACAC		PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
PAM_chr5_102750305_103034716	102803142	AAAGAAAG others(29): Show AAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01255.hp2 HG02257.hp2 others(15): Show HG00738.hp1 HG01255.hp2 HG02257.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG03041.hp1 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG03579.hp1 NA18906.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0102 others(15): Show a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0119 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0092 a0001c0001t0003g0033 a0001c0001t0003g0148 a0001c0002t0002g0001 a0001c0002t0002g0027 a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0002t0002g0141	18	188	0.0957	-36	c.-37 others(57): Show c.-374+47798_-374+47833delAAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAG		PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102803173	GGAAGGAA others(29): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	188	0.0053	-36	c.-37 others(57): Show c.-374+47851_-374+47886delAAGGAAGGAAAGAAGGAAGGAAGG AAGGAAGGAAGG		PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102882052	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0038 a0004c0007t0002g0038	1	188	0.0053	-36	c.210 others(55): Show c.210+14683_210+14718delTATATATATATATATATATATATATA TATATATATA		PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	3/25					INFO_REALIGN_3_PRIME	chr5	TogoVar
PAPOLG_chr2_60751268_60807086	60804866	GCCGCACC others(29): Show GCCGCACCTTCCCTGCTGCAGCCGCTCCAGGTGGGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	328	0.0031	-36	c.77 others(47): Show c.7707_*7742delCCGCACCTTCCCTGCTGCAGCCGCTCCAGGTGGG CC		PAPOLG	ENSG00000115421.13	transcript	ENST00000238714.8	protein_coding					2781		chr2	TogoVar
PAPPA2_chr1_176458175_176850601	176623557	CCCTTCCT others(29): Show CCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0100 a0004c0008t0003g0100	1	118	0.0085	-36	c.199 others(57): Show c.1991+27981_1991+28016delCTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCC		PAPPA2	ENSG00000116183.11	transcript	ENST00000367662.5	protein_coding	3/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
PAPSS2_chr10_87654878_87752705	87701307	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0325 a0001c0001t0063g0325	1	372	0.0027	-36	c.28- others(51): Show c.28-7885_28-7850delCCTTCCTTCCTTCCTTCCTTTCTTTCTTTC TTTCTT		PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87701319	CCTTCCTT others(29): Show CCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18973.hp2 NA18986.hp2 others(1): Show NA18969.hp2 NA18973.hp2 NA18986.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0022 a0001c0001t0003g0188 a0001c0001t0013g0272 others(1): Show a0001c0001t0003g0022 a0001c0001t0003g0188 a0001c0001t0013g0272 a0001c0001t0013g0282	4	372	0.0108	-36	c.28- others(51): Show c.28-7873_28-7838delCCTTCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT		PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
PAQR5_chr15_69293912_69412780	69300937	CTCTTTCT others(29): Show CTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	284	0.0035	-36	c.-27 others(55): Show c.-277+1892_-277+1927delCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69355308	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01891.hp1 HG02109.hp1 others(10): Show HG00597.hp2 HG01891.hp1 HG02109.hp1 HG02145.hp1 HG02886.hp2 HG02970.hp1 NA18906.hp1 NA18968.hp2 NA18995.hp2 NA19063.hp1 NA19068.hp2 NA19081.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0002c0002t0001	a0001c0001t0001g0060 a0001c0001t0001g0093 a0001c0001t0001g0115 others(10): Show a0001c0001t0001g0060 a0001c0001t0001g0093 a0001c0001t0001g0115 a0001c0001t0001g0190 a0001c0001t0001g0232 a0001c0001t0002g0243 a0001c0003t0003g0159 a0001c0003t0003g0271 a0001c0003t0003g0281 a0001c0003t0003g0282 a0002c0002t0001g0127 a0002c0002t0001g0153 a0002c0002t0001g0205	13	284	0.0458	-36	c.-11 others(55): Show c.-115-4622_-115-4587delTTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD3_chr10_34104561_34820296	34681742	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0057 a0001c0002t0003g0057	1	100	0.0100	-36	c.222 others(55): Show c.222+14540_222+14575delAAAAAAAAAATATATATATATATATA TATATATATA		PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24						chr10	TogoVar
PARD3_chr10_34104561_34820296	34681744	ATATATAT others(29): Show ATATATATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp2 HG02886.hp1 others(3): Show HG02647.hp1 HG02809.hp2 HG02886.hp1 HG03225.hp1 HG03516.hp2 HG03540.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0005 a0002c0006 others(1): Show a0001c0001 a0002c0005 a0002c0006 a0006c0009	a0001c0001t0002 a0002c0005t0002 a0002c0006t0002 others(2): Show a0001c0001t0002 a0002c0005t0002 a0002c0006t0002 a0002c0006t0006 a0006c0009t0011	a0001c0001t0002g0023 a0002c0005t0002g0021 a0002c0005t0002g0024 others(3): Show a0001c0001t0002g0023 a0002c0005t0002g0021 a0002c0005t0002g0024 a0002c0006t0002g0022 a0002c0006t0006g0020 a0006c0009t0011g0047	6	100	0.0600	-36	c.222 others(55): Show c.222+14538_222+14573delAAAAAAAAAAAATATATATATATATA TATATATATA		PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24						chr10	TogoVar

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