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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
OSBPL3_chr7_24791540_24985178	24841717	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01192.hp2 HG00642.hp1 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0039 a0001c0001t0003g0034 a0001c0001t0003g0039	2	326	0.0061	19	c.140 others(36): Show c.1401+561_1401+562insCTTTTTTTTTTTTTTTTTT	OSBPL3	ENSG00000070882.13	transcript	ENST00000313367.7	protein_coding	13/22			chr7	TogoVar
OSBPL3_chr7_24791540_24985178	24917411	T T	TATATATA others(12): Show TATATATATATATTTGTAAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03486.hp2 HG03516.hp2 HG02572.hp1 HG03486.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0012 a0001c0001t0001 a0001c0002t0001 a0001c0002t0012	a0001c0001t0001g0017 a0001c0002t0001g0054 a0001c0002t0012g0053 a0001c0001t0001g0017 a0001c0002t0001g0054 a0001c0002t0012g0053	3	326	0.0092	19	c.-14 others(40): Show c.-149-24791_-149-24790insGTTACAAATATATATATAT	OSBPL3	ENSG00000070882.13	transcript	ENST00000313367.7	protein_coding	1/22			chr7	TogoVar
OSBPL3_chr7_24791540_24985178	24917427	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0003 a0001c0001t0018g0003	1	326	0.0031	19	c.-14 others(40): Show c.-149-24807_-149-24806insTATATATATATATATATAT	OSBPL3	ENSG00000070882.13	transcript	ENST00000313367.7	protein_coding	1/22			chr7	TogoVar
OSBPL5_chr11_3082107_3170310	3103727	C C	CCCCTTCC others(12): Show CCCCTTCCTGCCTCTGCAGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01070.hp2 others(12): Show HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01891.hp2 HG02040.hp2 HG02486.hp1 HG02647.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG03139.hp1 HG03209.hp1 HG03471.hp2 HG03540.hp1 NA18948.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0004c0011	a0001c0001t0026 a0001c0002t0001 a0001c0002t0010 others(6): Show a0001c0001t0026 a0001c0002t0001 a0001c0002t0010 a0001c0002t0041 a0001c0005t0013 a0002c0003t0001 a0002c0003t0003 a0002c0003t0014 a0004c0011t0003	a0001c0001t0026g0279 a0001c0002t0001g0090 a0001c0002t0001g0096 others(12): Show a0001c0001t0026g0279 a0001c0002t0001g0090 a0001c0002t0001g0096 a0001c0002t0001g0107 a0001c0002t0010g0009 a0001c0002t0010g0136 a0001c0002t0010g0151 a0001c0002t0010g0168 a0001c0002t0041g0322 a0001c0005t0013g0058 a0002c0003t0001g0257 a0002c0003t0001g0291 a0002c0003t0003g0169 a0002c0003t0014g0210 a0004c0011t0003g0019	15	326	0.0460	19	c.124 others(36): Show c.1245-408_1245-407insACTGCAGAGGCAGGAAGGG	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	10/21			chr11	TogoVar
OSBPL6_chr2_178189512_178407893	178189768	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0160 a0001c0001t0019g0160	1	200	0.0050	19	c.-52 others(30): Show c.-5257_-5256insTTTTTTTTTTTTTTTTTTT	OSBPL6	ENSG00000079156.17	transcript	ENST00000190611.9	protein_coding		4743		chr2	TogoVar
OSCAR_chr19_54089668_54105803	54089940	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01496.hp1 HG02080.hp1 others(2): Show HG01175.hp2 HG01496.hp1 HG02080.hp1 NA18952.hp1 NA18992.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0162 a0001c0001t0001g0298 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0162 a0001c0001t0001g0298 a0001c0003t0001g0263 a0002c0002t0001g0328	5	443	0.0113	19	c.52 others(30): Show c.5280_*5281insAAAAAAAAAAAAAAAAAAA	OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding		4727		chr19	TogoVar
OSCAR_chr19_54089668_54105803	54099244	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0199 a0002c0002t0001g0199	1	443	0.0023	19	c.70+ others(32): Show c.70+503_70+504insCAAAAACAAAAAAAAAAAA	OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding	2/4			chr19	TogoVar
OSCAR_chr19_54089668_54105803	54105264	C C	CCTTTTTT others(12): Show CCTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	443	0.0023	19	c.-44 others(30): Show c.-4473_-4472insAAAAAAAAAAAAAAAAAAG	OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding		4462		chr19	TogoVar
OSER1_chr20_44190939_44215771	44215754	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0111 a0001c0001t0028g0111	1	444	0.0023	19	c.-51 others(30): Show c.-5101_-5100insAAAAAAAAAAAAAAAAAAA	OSER1	ENSG00000132823.11	transcript	ENST00000255174.3	protein_coding		4984		chr20	TogoVar
OSER1_chr20_44190939_44215771	44215764	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG02523.hp2 NA18951.hp1 others(1): Show HG00558.hp2 HG02523.hp2 NA18951.hp1 NA19091.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0022 a0001c0004t0012g0124 a0001c0004t0012g0022 a0001c0004t0012g0124	4	444	0.0090	19	c.-51 others(30): Show c.-5111_-5110insAAAAAAAAAAAAAAAAAAA	OSER1	ENSG00000132823.11	transcript	ENST00000255174.3	protein_coding		4994		chr20	TogoVar
OSER1_chr20_44190939_44215771	44215769	C C	CTTTCTTT others(12): Show CTTTCTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 NA18972.hp1 HG00438.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0004 a0001c0001t0011g0227 a0001c0001t0003g0004 a0001c0001t0011g0227	2	444	0.0045	19	c.-51 others(30): Show c.-5116_-5115insAAAAAAAAAAAAAAAGAAA	OSER1	ENSG00000132823.11	transcript	ENST00000255174.3	protein_coding		4999		chr20	TogoVar
OSER1_chr20_44190939_44215771	44215769	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG02055.hp2 HG00280.hp2 HG00323.hp2 HG02055.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0007 a0002c0002t0002 a0001c0004t0007 a0002c0002t0002	a0001c0004t0007g0065 a0002c0002t0002g0028 a0002c0002t0002g0062 a0001c0004t0007g0065 a0002c0002t0002g0028 a0002c0002t0002g0062	3	444	0.0068	19	c.-51 others(30): Show c.-5116_-5115insAAAAAAAAAAAAAAAAAAA	OSER1	ENSG00000132823.11	transcript	ENST00000255174.3	protein_coding		4999		chr20	TogoVar
OSTF1_chr9_75083514_75152265	75128393	T T	TATATATA others(12): Show TATATATATATATTTTGTCC	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18941.hp1 NA18981.hp1 HG02155.hp1 NA18941.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0332 a0001c0001t0001g0005 a0001c0001t0001g0332	3	366	0.0082	19	c.132 others(34): Show c.132+786_132+787insTTTGTCCATATATATATAT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OSTF1_chr9_75083514_75152265	75145177	A A	ATCTATCA others(12): Show ATCTATCATCTATCTAATCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG02615.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0149 a0001c0001t0013g0150 a0001c0001t0013g0149 a0001c0001t0013g0150	2	366	0.0055	19	c.587 others(36): Show c.587-1506_587-1505insTCTATCATCTATCTAATCT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	9/9			chr9	TogoVar
OSTN_chr3_191194241_191270615	191212808	T T	TGTATATA others(12): Show TGTATATATTTATATATTAC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	402	0.0025	19	c.102 others(34): Show c.102+175_102+193dupGTATATATTTATATATTAC	OSTN	ENSG00000188729.7	transcript	ENST00000682035.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
OTOF_chr2_26452203_26483124	26472358	G G	GGAGCTGT others(12): Show GGAGCTGTTTGGACACACAA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0079 a0001c0003t0001g0079	1	330	0.0030	19	c.156 others(36): Show c.1563+142_1563+160dupTTGTGTGTCCAAACAGCTC	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	13/28			chr2	TogoVar
OTOF_chr2_26452203_26563756	26472358	G G	GGAGCTGT others(12): Show GGAGCTGTTTGGACACACAA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0096 a0001c0015t0001g0096	1	284	0.0035	19	c.386 others(36): Show c.3864+142_3864+160dupTTGTGTGTCCAAACAGCTC	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	30/46			chr2	TogoVar
OTOG_chr11_17542259_17651044	17613195	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0238 a0004c0008t0001g0238	1	268	0.0037	19	c.643 others(36): Show c.6439-415_6439-414insCTTTCTTTCTTTCTTTCTT	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	38/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTUD4_chr4_145128650_145185589	145136463	C C	CGGGGGGG others(12): Show CGGGGGGGGGGGGGGGGGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0056 a0001c0001t0077g0056	1	346	0.0029	19	c.96 others(28): Show c.966_*967insCCCCCCCCCCCCCCCCCCC	OTUD4	ENSG00000164164.17	transcript	ENST00000447906.8	protein_coding	21/21	966		chr4	TogoVar
OTUD6B_chr8_91065344_91092093	91068439	A A	AGATTTAC others(12): Show AGATTTACTTGGAAGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02559.hp1 HG02896.hp1 others(6): Show HG02109.hp1 HG02559.hp1 HG02896.hp1 HG03041.hp1 HG03209.hp2 HG03225.hp1 HG03486.hp1 NA18522.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0008 a0001c0002t0004g0033 a0001c0002t0004g0058 a0001c0002t0004g0008 a0001c0002t0004g0033 a0001c0002t0004g0058	9	372	0.0242	19	c.-19 others(30): Show c.-1946_-1945insGATTTACTTGGAAGTATAT	OTUD6B	ENSG00000155100.11	transcript	ENST00000404789.8	protein_coding		1904		chr8	TogoVar
OTUD7A_chr15_31470398_31875673	31564387	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0098 a0001c0011t0098	a0001c0011t0098g0207 a0001c0011t0098g0207	1	244	0.0041	19	c.332 others(36): Show c.332-5201_332-5200insAAAAAAAAAAAAAAAAAAA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	4/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31610617	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0219 a0001c0001t0084g0219	1	244	0.0041	19	c.152 others(38): Show c.152-40421_152-40420insAAAAAAAAATATATATATA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	3/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31663246	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0052 a0003c0022t0052	a0003c0022t0052g0089 a0003c0022t0052g0089	1	244	0.0041	19	c.-99 others(36): Show c.-99-6170_-99-6169insGTGTGTGTGTGTGTGTGTG	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OVCH2_chr11_7684437_7711477	7685643	T T	TGTCCAGC others(12): Show TGTCCAGCCACAGCTCCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00438.hp1 others(95): Show HG00280.hp1 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01433.hp1 HG01516.hp2 HG01934.hp1 HG01943.hp1 HG02055.hp2 HG02071.hp2 HG02135.hp2 HG02145.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02572.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18979.hp1 NA18981.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18998.hp1 NA19001.hp1 NA19003.hp1 NA19030.hp2 NA19043.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19086.hp2 NA19240.hp1	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0005 a0008 a0011 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0023 a0025 a0028 a0031	a0001c0001 a0002c0002 a0003c0003 others(20): Show a0001c0001 a0002c0002 a0003c0003 a0003c0008 a0004c0004 a0005c0006 a0005c0015 a0008c0009 a0011c0012 a0013c0019 a0013c0023 a0014c0025 a0015c0013 a0016c0018 a0017c0017 a0018c0016 a0019c0024 a0020c0022 a0021c0027 a0023c0029 a0025c0030 a0028c0036 a0031c0042	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0003c0003t0003 a0003c0008t0003 a0004c0004t0001 a0004c0004t0002 a0004c0004t0004 a0005c0006t0003 a0005c0015t0003 a0008c0009t0004 a0011c0012t0003 a0013c0019t0003 a0013c0023t0003 a0014c0025t0003 a0015c0013t0001 a0016c0018t0004 a0017c0017t0004 a0018c0016t0004 a0019c0024t0004 a0020c0022t0003 a0021c0027t0001 a0023c0029t0003 a0025c0030t0003 a0028c0036t0003 a0031c0042t0003	a0001c0001t0001g0004 a0001c0001t0001g0055 a0001c0001t0001g0213 others(79): Show a0001c0001t0001g0004 a0001c0001t0001g0055 a0001c0001t0001g0213 a0001c0001t0001g0293 a0001c0001t0002g0048 a0001c0001t0004g0034 a0001c0001t0004g0222 a0001c0001t0004g0234 a0001c0001t0004g0305 a0001c0001t0004g0334 a0002c0002t0001g0001 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0002g0094 a0002c0002t0002g0125 a0002c0002t0004g0115 a0002c0002t0004g0154 a0002c0002t0004g0165 a0002c0002t0004g0177 a0002c0002t0004g0185 a0003c0003t0003g0006 a0003c0003t0003g0017 a0003c0003t0003g0018 a0003c0003t0003g0025 a0003c0003t0003g0077 a0003c0003t0003g0091 a0003c0003t0003g0099 a0003c0003t0003g0107 a0003c0003t0003g0121 a0003c0003t0003g0147 a0003c0003t0003g0153 a0003c0008t0003g0084 a0003c0008t0003g0096 a0003c0008t0003g0103 a0003c0008t0003g0104 a0003c0008t0003g0110 a0003c0008t0003g0136 a0003c0008t0003g0141 a0003c0008t0003g0144 a0003c0008t0003g0160 a0004c0004t0001g0260 a0004c0004t0002g0265 a0004c0004t0002g0267 a0004c0004t0004g0044 a0004c0004t0004g0271 a0005c0006t0003g0038 a0005c0006t0003g0209 a0005c0006t0003g0219 a0005c0006t0003g0230 a0005c0006t0003g0285 a0005c0006t0003g0308 a0005c0006t0003g0311 a0005c0006t0003g0316 a0005c0006t0003g0318 a0005c0006t0003g0336 a0005c0015t0003g0233 a0005c0015t0003g0292 a0008c0009t0004g0021 a0008c0009t0004g0251 a0011c0012t0003g0020 a0011c0012t0003g0240 a0011c0012t0003g0241 a0011c0012t0003g0243 a0013c0019t0003g0344 a0013c0019t0003g0350 a0013c0019t0003g0353 a0013c0023t0003g0351 a0014c0025t0003g0358 a0014c0025t0003g0360 a0015c0013t0001g0022 a0016c0018t0004g0043 a0017c0017t0004g0189 a0018c0016t0004g0266 a0019c0024t0004g0341 a0019c0024t0004g0342 a0020c0022t0003g0256 a0020c0022t0003g0268 a0021c0027t0001g0074 a0023c0029t0003g0089 a0025c0030t0003g0184 a0028c0036t0003g0187 a0031c0042t0003g0274	98	476	0.2059	19	c.39 others(30): Show c.3990_*3991insGCAGGAGCTGTGGCTGGAC	OVCH2	ENSG00000183378.13	transcript	ENST00000533663.6	protein_coding		3793		chr11	TogoVar
OXA1L_chr14_22761688_22778042	22772488	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0254 a0006c0006t0254	a0006c0006t0254g0017 a0006c0006t0254g0017	1	470	0.0021	19	c.94 others(28): Show c.943_*961dupAAAAAAAAAAAAAAAAAAA	OXA1L	ENSG00000155463.14	transcript	ENST00000612549.6	protein_coding	10/10	962	INFO_REALIGN_3_PRIME	chr14	TogoVar
OXCT1_chr5_41725065_41875425	41754157	G G	GCTTCTTT others(12): Show GCTTCTTTTAATTTAATATT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(73): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01516.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03540.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 NA18947.hp2 NA18951.hp1 NA18959.hp1 NA18983.hp1 NA18986.hp2 NA19007.hp1 NA19009.hp2 NA19030.hp2 NA19055.hp1 NA19062.hp2 NA19083.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0003t0001 a0001c0004t0002 a0001c0005t0001 a0001c0006t0001 a0002c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0077 others(71): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0171 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0005g0170 a0001c0002t0001g0001 a0001c0002t0001g0098 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0003t0001g0158 a0001c0004t0002g0196 a0001c0005t0001g0131 a0001c0006t0001g0095 a0002c0007t0001g0076	76	200	0.3800	19	c.133 others(38): Show c.1339-4569_1339-4551dupAATATTAAATTAAAAGAAG	OXCT1	ENSG00000083720.13	transcript	ENST00000196371.10	protein_coding	14/16			chr5	TogoVar
OXCT1_chr5_41725065_41875425	41859893	T T	TATATATA others(12): Show TATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	200	0.0050	19	c.278 others(36): Show c.278+1420_278+1421insTACATATATATATATATAT	OXCT1	ENSG00000083720.13	transcript	ENST00000196371.10	protein_coding	3/16			chr5	TogoVar
OXR1_chr8_106265190_106757694	106671044	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02257.hp1 HG02257.hp2 others(3): Show HG00741.hp1 HG02257.hp1 HG02257.hp2 HG02970.hp1 HG03209.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0008t0002	a0001c0001t0001g0071 a0001c0001t0001g0114 a0001c0001t0002g0078 others(3): Show a0001c0001t0001g0071 a0001c0001t0001g0114 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0013g0040 a0001c0008t0002g0077	6	172	0.0349	19	c.221 others(36): Show c.221-8165_221-8147dupAAAAAAAAAAAAAAAAAAA	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
P2RX1_chr17_3891592_3921465	3892092	G G	GTGTGCCC others(12): Show GTGTGCCCCTCCCACACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02886.hp2 HG02895.hp2 others(1): Show HG02809.hp1 HG02886.hp2 HG02895.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0038 a0001c0001t0009g0039 a0001c0001t0009g0040 others(1): Show a0001c0001t0009g0038 a0001c0001t0009g0039 a0001c0001t0009g0040 a0001c0001t0009g0101	4	378	0.0106	19	c.57 others(30): Show c.5703_*5721dupGGAGTGTGGGAGGGGCACA	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding		4499		chr17	TogoVar
P2RX2_chr12_132613776_132627388	132618232	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG02896.hp2 HG03098.hp1 others(5): Show HG01978.hp1 HG02896.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp2 HG04184.hp1 NA18522.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0012t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0012t0001g0005	8	386	0.0207	19	c.-58 others(28): Show c.-585_-584insAAGAAAGAAAGAAAGAAAG	P2RX2	ENSG00000187848.15	transcript	ENST00000643471.2	protein_coding		543		chr12	TogoVar
P2RX5_chr17_3668227_3701155	3699923	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0232 a0002c0002t0001g0232	1	362	0.0028	19	c.-39 others(30): Show c.-3919_-3918insCTTTCTTTCTTTCTTTCTT	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding		3769		chr17	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG06807.hp2 NA18978.hp2 others(2): Show HG01257.hp1 HG06807.hp2 NA18978.hp2 NA18982.hp1 NA19030.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0015	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0015c0012	a0001c0001t0001 a0002c0002t0036 a0003c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0036 a0003c0004t0001 a0015c0012t0014	a0001c0001t0001g0052 a0002c0002t0036g0056 a0003c0004t0001g0054 others(2): Show a0001c0001t0001g0052 a0002c0002t0036g0056 a0003c0004t0001g0054 a0003c0004t0001g0055 a0015c0012t0014g0053	5	366	0.0137	19	c.125 others(36): Show c.125+2929_125+2930insAAAAAAAAAAATATATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp1 HG01168.hp1 others(17): Show HG00140.hp2 HG01074.hp1 HG01168.hp1 HG01516.hp1 HG02004.hp1 HG02027.hp2 HG02083.hp1 HG02165.hp1 HG03704.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18992.hp1 NA19009.hp1 NA19057.hp1 NA19080.hp2 NA19086.hp2 NA19088.hp1 NA20129.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0014 a0033	a0001c0001 a0002c0002 a0003c0004 others(3): Show a0001c0001 a0002c0002 a0003c0004 a0004c0003 a0014c0014 a0033c0041	a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 others(4): Show a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 a0003c0004t0003 a0004c0003t0011 a0014c0014t0001 a0033c0041t0001	a0001c0001t0001g0004 a0001c0001t0001g0132 a0002c0002t0001g0118 others(16): Show a0001c0001t0001g0004 a0001c0001t0001g0132 a0002c0002t0001g0118 a0002c0002t0001g0130 a0002c0002t0001g0131 a0003c0004t0001g0117 a0003c0004t0001g0119 a0003c0004t0001g0120 a0003c0004t0001g0122 a0003c0004t0001g0123 a0003c0004t0001g0124 a0003c0004t0001g0125 a0003c0004t0001g0127 a0003c0004t0001g0128 a0003c0004t0001g0134 a0003c0004t0003g0121 a0004c0003t0011g0133 a0014c0014t0001g0129 a0033c0041t0001g0126	20	366	0.0546	19	c.125 others(36): Show c.125+2929_125+2930insAAAAAAAAATATATATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18984.hp1 NA18940.hp2 NA18984.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0166 a0003c0004t0001g0167 a0003c0004t0001g0166 a0003c0004t0001g0167	2	366	0.0055	19	c.125 others(36): Show c.125+2929_125+2930insAAAAAAATATATATATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RY14_chr3_151207117_151283542	151269847	T T	TCAGCAGG others(12): Show TCAGCAGGAAGAGGCAGCAC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	404	0.0025	19	c.-13 others(38): Show c.-133+8421_-133+8439dupGTGCTGCCTCTTCCTGCTG	P2RY14	ENSG00000174944.9	transcript	ENST00000309170.8	protein_coding	1/2			chr3	TogoVar
P2RY1_chr3_152830131_152846439	152830688	T T	TTTATTAT others(12): Show TTTATTATTATTAATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG01981.hp2 others(24): Show HG00408.hp2 HG00558.hp1 HG01981.hp2 HG02083.hp1 HG02293.hp2 HG02300.hp2 HG02922.hp2 HG03704.hp1 NA18612.hp1 NA18941.hp1 NA18944.hp2 NA18949.hp2 NA18954.hp1 NA18966.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18989.hp2 NA19001.hp1 NA19007.hp1 NA19055.hp2 NA19078.hp1 NA19085.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0010 a0001c0002t0011 others(2): Show a0001c0002t0002 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0029	a0001c0002t0002g0000 a0001c0002t0010g0000 a0001c0002t0011g0000 others(2): Show a0001c0002t0002g0000 a0001c0002t0010g0000 a0001c0002t0011g0000 a0001c0002t0012g0000 a0001c0002t0029g0000	27	368	0.0734	19	c.-50 others(30): Show c.-5095_-5094insTTATTATTATTAATTATTA	P2RY1	ENSG00000169860.7	transcript	ENST00000305097.6	protein_coding		4442		chr3	TogoVar
P2RY8_chrX_1457581_1542185	1469072	T T	TCCCCTCT others(12): Show TCCCCTCTCCTTCCCCTCTC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0036 a0005c0006t0001g0036	1	114	0.0088	19	c.-24 others(36): Show c.-24-2491_-24-2490insGAGAGGGGAAGGAGAGGGG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P2RY8_chrX_1457581_1542185	1477298	T T	TCAATCAT others(12): Show TCAATCATCTATCAATCAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp1 others(54): Show HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01123.hp2 HG01255.hp1 HG01346.hp2 HG01884.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02015.hp1 HG02071.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02622.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02897.hp1 HG02897.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03579.hp2 HG03688.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18960.hp1 NA18973.hp1 NA18973.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18994.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0008 a0009	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0005 a0006c0008 a0008c0010 a0009c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0003t0011 a0001c0003t0012 a0001c0004t0010 a0002c0002t0004 a0002c0002t0009 a0002c0002t0021 a0002c0005t0017 a0006c0008t0005 a0008c0010t0001 a0009c0011t0018	a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0001g0039 others(54): Show a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0112 a0001c0001t0002g0014 a0001c0001t0002g0050 a0001c0001t0002g0060 a0001c0001t0002g0083 a0001c0001t0002g0107 a0001c0001t0003g0066 a0001c0001t0005g0011 a0001c0001t0006g0018 a0001c0001t0006g0029 a0001c0001t0008g0020 a0001c0001t0008g0061 a0001c0001t0008g0099 a0001c0001t0014g0052 a0001c0001t0016g0102 a0001c0001t0019g0034 a0001c0001t0023g0059 a0001c0001t0024g0070 a0001c0001t0028g0089 a0001c0001t0029g0054 a0001c0001t0033g0113 a0001c0001t0034g0114 a0001c0003t0001g0048 a0001c0003t0003g0030 a0001c0003t0003g0041 a0001c0003t0005g0031 a0001c0003t0011g0002 a0001c0003t0012g0001 a0001c0004t0010g0049 a0001c0004t0010g0111 a0002c0002t0004g0019 a0002c0002t0004g0024 a0002c0002t0009g0006 a0002c0002t0021g0021 a0002c0005t0017g0062 a0006c0008t0005g0051 a0008c0010t0001g0096 a0009c0011t0018g0085	57	114	0.5000	19	c.-24 others(38): Show c.-24-10717_-24-10716insTCTGATTGATAGATGATTG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P3H2_chr3_189951728_190125897	189970191	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0233 a0001c0002t0003g0233	1	304	0.0033	19	c.189 others(36): Show c.1893+624_1893+625insATATATATATATATATATA	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	13/14			chr3	TogoVar
PABIR1_chr9_68775065_68790566	68788500	T T	TTTTGTTT others(12): Show TTTTGTTTTGTTTTGTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	436	0.0023	19	c.74 others(30): Show c.7472_*7473insTTTGTTTTGTTTTGTTTTG	PABIR1	ENSG00000187866.10	transcript	ENST00000394264.7	protein_coding		2935		chr9	TogoVar
PABPC1_chr8_100697916_100727088	100700663	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG04115.hp2 HG04184.hp1 others(4): Show HG00609.hp1 HG04115.hp2 HG04184.hp1 NA18612.hp1 NA18987.hp2 NA19084.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0043 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0132	7	416	0.0168	19	c.26 others(30): Show c.2697_*2698insGTTTTTTTTTTTTTTTTTT	PABPC1	ENSG00000070756.17	transcript	ENST00000318607.10	protein_coding		2252		chr8	TogoVar
PABPC4_chr1_39555816_39581790	39577405	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	374	0.0027	19	c.-14 others(30): Show c.-1455_-1454insTTTTTTTTTTTTTTTTTTT	PABPC4	ENSG00000090621.15	transcript	ENST00000372858.8	protein_coding		616		chr1	TogoVar
PACRGL_chr4_20695458_20737557	20729950	T T	TAAAACAA others(12): Show TAAAACAAAGCTTGTTTGCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02738.hp1 HG03834.hp2 HG02738.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0144 a0001c0001t0020g0145 a0001c0001t0020g0144 a0001c0001t0020g0145	2	412	0.0049	19	c.26 others(30): Show c.2610_*2628dupAAAACAAAGCTTGTTTGCA	PACRGL	ENSG00000163138.19	transcript	ENST00000503585.6	protein_coding	9/9	2629	INFO_REALIGN_3_PRIME	chr4	TogoVar
PACRG_chr6_162722974_163320500	162981305	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	130	0.0077	19	c.292 others(38): Show c.292-80844_292-80843insATATATATATTTTTTTTTT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163177710	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18965.hp1 HG03017.hp2 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0112 a0001c0001t0004g0073 a0001c0001t0002g0112 a0001c0001t0004g0073	2	130	0.0154	19	c.613 others(38): Show c.613+88311_613+88329dupTTTTTTTTTTTTTTTTTTT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163224368	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	130	0.0077	19	c.614 others(38): Show c.614-90451_614-90433dupAAAAAAAAAAAAAAAAAAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACS1_chr11_66065272_66249744	66202742	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	322	0.0031	19	c.445 others(36): Show c.445-7619_445-7618insAAAAATATATATATATATA	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACSIN2_chr22_42864773_43020149	42982869	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02896.hp1 HG02109.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0073 a0001c0001t0002g0075	2	294	0.0068	19	c.-78 others(38): Show c.-78+32133_-78+32151dupTTTTTTTTTTTTTTTTTTT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42982888	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG01167.hp2 others(2): Show HG00099.hp2 HG00642.hp1 HG01167.hp2 HG02683.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0003 a0001c0002t0003g0017 a0001c0002t0003g0019 others(2): Show a0001c0002t0003g0003 a0001c0002t0003g0017 a0001c0002t0003g0019 a0001c0002t0003g0027 a0001c0002t0003g0041	5	294	0.0170	19	c.-78 others(38): Show c.-78+32132_-78+32133insGTTTTTTTTTTTTTTTTTT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42982888	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAACAAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0015 a0001c0002t0003g0015	1	294	0.0034	19	c.-78 others(38): Show c.-78+32132_-78+32133insGTTGTTTTTTTTTTTTTTT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar

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