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
OSBPL5_chr11_3082107_3170310	3165173	TCCCCCCG others(12): Show TCCCCCCGCCGCCCTGCCGC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01496.hp2 homoSapiens_chm13v2.hp1 HG01123.hp1 HG01496.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0040 a0001c0001t0001 a0001c0001t0006 a0001c0002t0040	a0001c0001t0001g0158 a0001c0001t0006g0159 a0001c0002t0040g0160 a0001c0001t0001g0158 a0001c0001t0006g0159 a0001c0002t0040g0160	3	326	0.0092	-19	c.-22 others(32): Show c.-22+24_-22+42delGCGGCAGGGCGGCGGGGGG	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	1/21			chr11	TogoVar
OSTF1_chr9_75083514_75152265	75128383	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01891.hp1 HG02735.hp1 others(2): Show HG01433.hp1 HG01891.hp1 HG02735.hp1 HG03239.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0018 a0001c0001t0010 a0001c0001t0018	a0001c0001t0010g0345 a0001c0001t0010g0346 a0001c0001t0010g0348 others(2): Show a0001c0001t0010g0345 a0001c0001t0010g0346 a0001c0001t0010g0348 a0001c0001t0010g0349 a0001c0001t0018g0347	5	366	0.0137	-19	c.132 others(34): Show c.132+765_132+783delATATATATATATATATATA	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9			chr9	TogoVar
OSTF1_chr9_75083514_75152265	75128385	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp2 HG01255.hp1 others(1): Show HG00099.hp2 HG00733.hp2 HG01255.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012	a0001c0001t0007g0006 a0001c0001t0010g0351 a0001c0001t0012g0350 a0001c0001t0007g0006 a0001c0001t0010g0351 a0001c0001t0012g0350	4	366	0.0109	-19	c.132 others(34): Show c.132+767_132+785delATATATATATATATATATA	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9			chr9	TogoVar
OSTF1_chr9_75083514_75152265	75128395	TATATATA others(12): Show TATATATATATATTTTGTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01106.hp2 HG01928.hp1 others(3): Show HG00099.hp1 HG01106.hp2 HG01928.hp1 HG02486.hp1 NA19006.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0003 a0001c0002t0006	a0001c0001t0001g0302 a0001c0001t0005g0284 a0001c0002t0003g0160 others(3): Show a0001c0001t0001g0302 a0001c0001t0005g0284 a0001c0002t0003g0160 a0001c0002t0003g0245 a0001c0002t0003g0252 a0001c0002t0006g0256	6	366	0.0164	-19	c.132 others(34): Show c.132+789_132+807delTTTGTCCATATATATATAT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OSTF1_chr9_75083514_75152265	75128508	TATATATA others(12): Show TATATATATATATTTTGTCC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18961.hp2 NA18964.hp2 others(4): Show HG03704.hp2 NA18961.hp2 NA18964.hp2 NA18979.hp1 NA18986.hp1 NA19005.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0102 others(4): Show a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0111 a0001c0001t0002g0132 a0001c0001t0004g0221	7	366	0.0191	-19	c.132 others(34): Show c.132+902_132+920delTTTGTCCATATATATATAT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OSTF1_chr9_75083514_75152265	75128533	TATATATA others(12): Show TATATATATATATTTTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0282 a0001c0001t0009g0282	1	366	0.0027	-19	c.132 others(34): Show c.132+927_132+945delTTTGTCCATATATATATAT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OSTF1_chr9_75083514_75152265	75128562	TATATATA others(12): Show TATATATATATATTTTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0355 a0001c0001t0012g0355	1	366	0.0027	-19	c.132 others(34): Show c.132+956_132+974delTTTGTCCATATATATATAT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OTOF_chr2_26452203_26483124	26476104	TTCGAGTG others(12): Show TTCGAGTGAGGGGTCCTCAC	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0075 a0001c0003t0001g0075	1	330	0.0030	-19	c.625 others(31): Show c.625+5_625+23delGTGAGGACCCCTCACTCGA	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	6/28			chr2	TogoVar
OTOF_chr2_26452203_26563756	26476104	TTCGAGTG others(12): Show TTCGAGTGAGGGGTCCTCAC	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0092 a0001c0015t0001g0092	1	284	0.0035	-19	c.286 others(33): Show c.2866+5_2866+23delGTGAGGACCCCTCACTCGA	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	23/46			chr2	TogoVar
OTOG_chr11_17542259_17651044	17548418	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02647.hp1 HG03139.hp2 others(5): Show HG01069.hp2 HG02647.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 NA18522.hp1 NA19030.hp1	a0006 a0013 a0078 others(5): Show a0006 a0013 a0078 a0084 a0086 a0091 a0094 a0124	a0006c0144 a0013c0119 a0078c0116 others(5): Show a0006c0144 a0013c0119 a0078c0116 a0084c0145 a0086c0113 a0091c0077 a0094c0138 a0124c0053	a0006c0144t0001 a0013c0119t0001 a0078c0116t0001 others(5): Show a0006c0144t0001 a0013c0119t0001 a0078c0116t0001 a0084c0145t0001 a0086c0113t0001 a0091c0077t0001 a0094c0138t0002 a0124c0053t0001	a0006c0144t0001g0255 a0013c0119t0001g0155 a0078c0116t0001g0156 others(5): Show a0006c0144t0001g0255 a0013c0119t0001g0155 a0078c0116t0001g0156 a0084c0145t0001g0254 a0086c0113t0001g0154 a0091c0077t0001g0018 a0094c0138t0002g0256 a0124c0053t0001g0253	8	268	0.0299	-19	c.216 others(34): Show c.216+226_216+244delTTTTTTTTTTTTTTTTTTT	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	3/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17613178	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG02258.hp1 others(1): Show HG00639.hp1 HG00735.hp1 HG02258.hp1 HG02897.hp1	a0008 a0026 a0008 a0026	a0008c0023 a0008c0141 a0008c0142 others(1): Show a0008c0023 a0008c0141 a0008c0142 a0026c0017	a0008c0023t0001 a0008c0141t0001 a0008c0142t0001 others(1): Show a0008c0023t0001 a0008c0141t0001 a0008c0142t0001 a0026c0017t0001	a0008c0023t0001g0044 a0008c0141t0001g0258 a0008c0142t0001g0120 others(1): Show a0008c0023t0001g0044 a0008c0141t0001g0258 a0008c0142t0001g0120 a0026c0017t0001g0173	4	268	0.0149	-19	c.643 others(36): Show c.6438+415_6439-414delTTCTTTCTTTCTTTCTTTT	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	38/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTUD6A_chrX_70057457_70069179	70067041	GAAGGAGG others(12): Show GAAGGAGGCCTGCCTGGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	336	0.0030	-19	c.36 others(30): Show c.3651_*3669delAAGGAGGCCTGCCTGGAAA	OTUD6A	ENSG00000189401.3	transcript	ENST00000338352.3	protein_coding		2863		chrX	TogoVar
OTUD6B_chr8_91065344_91092093	91068440	AATTTACT others(12): Show AATTTACTTGGAACTATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	372	0.0027	-19	c.-19 others(30): Show c.-1944_-1926delATTTACTTGGAACTATATG	OTUD6B	ENSG00000155100.11	transcript	ENST00000404789.8	protein_coding		1903		chr8	TogoVar
OTUD7A_chr15_31470398_31875673	31510838	TATGTATA others(12): Show TATGTATATCTATATGTAAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0014 a0001c0002t0026g0014	1	244	0.0041	-19	c.894 others(36): Show c.894-7039_894-7021delGTTACATATAGATATACAT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31510974	TATGTATA others(12): Show TATGTATATCTATATGTAAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02965.hp1 HG02922.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0077 a0001c0001t0032g0078 a0001c0001t0032g0077 a0001c0001t0032g0078	2	244	0.0082	-19	c.894 others(36): Show c.894-7175_894-7157delGTTACATATAGATATACAT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31753684	GAGATATA others(12): Show GAGATATATATATATATATT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG01070.hp1 others(14): Show HG00642.hp2 HG00735.hp2 HG01070.hp1 HG01081.hp2 HG01167.hp2 HG01169.hp2 HG01261.hp2 HG01517.hp1 HG02300.hp2 HG02486.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03471.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0002c0005	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(11): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0031 a0001c0001t0032 a0001c0001t0064 a0001c0001t0070 a0001c0001t0092 a0001c0002t0001 a0001c0002t0024 a0001c0004t0010 a0002c0003t0008 a0002c0005t0020	a0001c0001t0004g0104 a0001c0001t0005g0101 a0001c0001t0006g0103 others(14): Show a0001c0001t0004g0104 a0001c0001t0005g0101 a0001c0001t0006g0103 a0001c0001t0007g0096 a0001c0001t0031g0083 a0001c0001t0032g0077 a0001c0001t0032g0078 a0001c0001t0064g0097 a0001c0001t0070g0088 a0001c0001t0092g0087 a0001c0002t0001g0099 a0001c0002t0024g0217 a0001c0002t0024g0218 a0001c0004t0010g0216 a0002c0003t0008g0098 a0002c0005t0020g0081 a0002c0005t0020g0082	17	244	0.0697	-19	c.-99 others(38): Show c.-99-96626_-99-96608delAATATATATATATATATCT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OTULIN_chr5_14659718_14704850	14703324	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG02293.hp1 others(11): Show HG00621.hp1 HG00621.hp2 HG02293.hp1 HG04204.hp1 NA18942.hp1 NA18952.hp1 NA18952.hp2 NA18979.hp1 NA18985.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19064.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0037 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0037 a0001c0001t0054	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0001t0001g0106 a0001c0001t0012g0095 a0001c0001t0037g0101 a0001c0001t0054g0105	14	354	0.0396	-19	c.10 others(32): Show c.10277_*10295delAAAAAAAAAAAAAAAAAAA	OTULIN	ENSG00000154124.6	transcript	ENST00000284274.5	protein_coding		3475		chr5	TogoVar
OVCH1_chr12_29434853_29502686	29485954	AAAATAAA others(12): Show AAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0035 a0035	a0035c0071 a0035c0071	a0035c0071t0001 a0035c0071t0001	a0035c0071t0001g0071 a0035c0071t0001g0071	1	400	0.0025	-19	c.991 others(34): Show c.991+277_991+295delATTTTATTTTATTTTATTT	OVCH1	ENSG00000187950.9	transcript	ENST00000537054.2	protein_coding	8/25			chr12	TogoVar
OXTR_chr3_8745381_8774613	8773226	CTATATCT others(12): Show CTATATCTATATAATCTATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02895.hp2 HG03225.hp2 others(1): Show HG02280.hp1 HG02895.hp2 HG03225.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0025 a0001c0002t0008 a0001c0001t0025 a0001c0002t0008	a0001c0001t0025g0034 a0001c0002t0008g0011 a0001c0002t0008g0173 a0001c0001t0025g0034 a0001c0002t0008g0011 a0001c0002t0008g0173	4	474	0.0084	-19	c.-42 others(30): Show c.-4253_-4235delTATAGATTATATAGATATA	OXTR	ENSG00000180914.11	transcript	ENST00000316793.8	protein_coding		3614		chr3	TogoVar
P2RX4_chr12_121205129_121239106	121218464	CAGAGCAA others(12): Show CAGAGCAAGACTCCGTCTCA	C C	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	388	0.0026	-19	c.282 others(36): Show c.282+1185_282+1203delGAGCAAGACTCCGTCTCAA	P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX5_chr17_3668227_3701155	3699879	AAGGAAGG others(12): Show AAGGAAGGAAGGAAGGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	362	0.0028	-19	c.-38 others(30): Show c.-3893_-3875delCCTTCCTTCCTTCCTTCCT	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding		3725		chr17	TogoVar
P2RY8_chrX_1457581_1542185	1459354	TATCTATC others(12): Show TATCTATCTATGTATCTATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0017 a0002c0005t0017	a0002c0005t0017g0062 a0002c0005t0017g0062	1	114	0.0088	-19	c.61 others(30): Show c.6106_*6124delGATAGATACATAGATAGAT	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding		3226		chrX	TogoVar
P2RY8_chrX_1457581_1542185	1514674	CCTTTCCC others(12): Show CCTTTCCCTTCCCTTCCCTT	C C	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	114	0.0088	-19	c.-25 others(38): Show c.-25+22228_-25+22246delAAGGGAAGGGAAGGGAAAG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P2RY8_chrX_1457581_1542185	1520520	CATCTCTC others(12): Show CATCTCTCTGATCCCCAATA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0027 a0001c0001t0022g0027	1	114	0.0088	-19	c.-25 others(38): Show c.-25+16382_-25+16400delTATTGGGGATCAGAGAGAT	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P2RY8_chrX_1457581_1542185	1530145	GTATGTAT others(12): Show GTATGTATGTATGATCTATC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0001 a0001c0003t0012g0001	1	114	0.0088	-19	c.-25 others(36): Show c.-25+6757_-25+6775delGATAGATCATACATACATA	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P2RY8_chrX_1457581_1542185	1530149	GTATGTAT others(12): Show GTATGTATGATCTATCTATC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp1 others(53): Show HG00099.hp1 HG00140.hp1 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00673.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02135.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02300.hp2 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03688.hp2 HG04115.hp1 NA18906.hp1 NA18945.hp1 NA18948.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18973.hp1 NA18973.hp2 NA18983.hp2 NA18994.hp1 NA18995.hp1 NA19006.hp1 NA19012.hp1 NA19056.hp1 NA19068.hp1 NA19086.hp1 NA20129.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0007 a0008 a0009	a0001c0001 a0002c0002 a0003c0013 others(4): Show a0001c0001 a0002c0002 a0003c0013 a0005c0006 a0007c0009 a0008c0010 a0009c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0033 a0002c0002t0004 a0003c0013t0001 a0005c0006t0001 a0007c0009t0032 a0008c0010t0001 a0009c0011t0018	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0023 others(53): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0002g0050 a0001c0001t0002g0083 a0001c0001t0002g0107 a0001c0001t0007g0074 a0001c0001t0014g0052 a0001c0001t0019g0034 a0001c0001t0023g0059 a0001c0001t0024g0070 a0001c0001t0025g0110 a0001c0001t0026g0044 a0001c0001t0028g0089 a0001c0001t0033g0113 a0002c0002t0004g0008 a0002c0002t0004g0035 a0003c0013t0001g0108 a0005c0006t0001g0036 a0007c0009t0032g0004 a0008c0010t0001g0096 a0009c0011t0018g0085	56	114	0.4912	-19	c.-25 others(36): Show c.-25+6753_-25+6771delGATAGATAGATCATACATA	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P2RY8_chrX_1457581_1542185	1530153	GTATGATC others(12): Show GTATGATCTATCTATCTATC	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	114	0.0088	-19	c.-25 others(36): Show c.-25+6749_-25+6767delGATAGATAGATAGATCATA	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P2RY8_chrX_1457581_1542185	1530157	GATCTATC others(12): Show GATCTATCTATCTATCTATC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG02273.hp2 HG00099.hp2 HG00639.hp1 HG02273.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0030 a0002c0002t0004 a0001c0001t0002 a0001c0001t0030 a0002c0002t0004	a0001c0001t0002g0014 a0001c0001t0030g0013 a0002c0002t0004g0024 a0001c0001t0002g0014 a0001c0001t0030g0013 a0002c0002t0004g0024	3	114	0.0263	-19	c.-25 others(36): Show c.-25+6745_-25+6763delGATAGATAGATAGATAGAT	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P3H2_chr3_189951728_190125897	190041091	CTATATAT others(12): Show CTATATATATATATATACTA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	304	0.0033	-19	c.481 others(38): Show c.481-45668_481-45650delTAGTATATATATATATATA	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P3H2_chr3_189951728_190125897	190052529	TTTCTCCA others(12): Show TTTCTCCATGCTTAGCACTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00597.hp2 others(36): Show HG00099.hp2 HG00408.hp1 HG00597.hp2 HG00673.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01123.hp1 HG01168.hp1 HG01175.hp2 HG01261.hp2 HG01515.hp2 HG01978.hp1 HG02080.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02735.hp1 HG03669.hp1 HG03688.hp1 HG04199.hp1 NA18946.hp1 NA18951.hp1 NA18963.hp2 NA18974.hp2 NA18978.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18995.hp1 NA19003.hp1 NA19006.hp2 NA19054.hp1 NA19062.hp1 NA19091.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0005t0001	a0001c0001t0001g0116 a0001c0001t0001g0134 a0001c0001t0001g0235 others(36): Show a0001c0001t0001g0116 a0001c0001t0001g0134 a0001c0001t0001g0235 a0001c0001t0001g0282 a0001c0001t0003g0278 a0001c0001t0004g0056 a0001c0001t0005g0261 a0001c0001t0012g0298 a0001c0002t0001g0127 a0001c0002t0002g0037 a0001c0002t0002g0132 a0001c0003t0001g0014 a0001c0003t0001g0019 a0001c0003t0001g0040 a0001c0003t0001g0041 a0001c0003t0001g0063 a0001c0003t0001g0089 a0001c0003t0001g0114 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0167 a0001c0003t0001g0169 a0001c0003t0001g0182 a0001c0003t0001g0187 a0001c0003t0001g0195 a0001c0003t0001g0200 a0001c0003t0001g0206 a0001c0003t0001g0211 a0001c0003t0001g0213 a0001c0003t0001g0215 a0001c0003t0001g0232 a0001c0003t0001g0234 a0001c0003t0001g0238 a0001c0003t0001g0239 a0001c0003t0001g0241 a0001c0003t0003g0203 a0001c0003t0004g0123 a0001c0005t0001g0001	39	304	0.1283	-19	c.481 others(38): Show c.481-57106_481-57088delCAGTGCTAAGCATGGAGAA	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P4HA1_chr10_73002217_73101866	73037553	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp2 NA19065.hp2 HG02965.hp2 HG02976.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0221 a0001c0001t0006g0103 a0001c0001t0006g0159 a0001c0001t0001g0221 a0001c0001t0006g0103 a0001c0001t0006g0159	3	234	0.0128	-19	c.114 others(38): Show c.1149-7202_1149-7184delATATATATATATATATATA	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	9/14			chr10	TogoVar
P4HA1_chr10_73002217_73101866	73093868	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01256.hp2 HG01261.hp1 others(3): Show HG00642.hp2 HG01256.hp2 HG01261.hp1 HG02080.hp2 HG03239.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 others(3): Show a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0048 a0001c0001t0002g0059 a0001c0001t0005g0226	6	234	0.0256	-19	c.-33 others(36): Show c.-33+2879_-33+2897delATATATATATATATTTTTT	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	1/14			chr10	TogoVar
P4HA1_chr10_73002217_73101866	73093870	AAAAATAT others(12): Show AAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00673.hp1 others(11): Show HG00438.hp2 HG00609.hp1 HG00673.hp1 HG02647.hp1 HG03688.hp1 HG03704.hp2 HG04228.hp2 NA18940.hp1 NA18942.hp1 NA18963.hp1 NA19009.hp2 NA19055.hp1 NA19060.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0011 others(11): Show a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0008g0018	14	234	0.0598	-19	c.-33 others(36): Show c.-33+2877_-33+2895delATATATATATATATATTTT	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	1/14			chr10	TogoVar
P4HA1_chr10_73002217_73101866	73093872	AAATATAT others(12): Show AAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG00621.hp1 others(19): Show HG00544.hp2 HG00609.hp2 HG00621.hp1 HG01074.hp2 HG01978.hp1 HG02451.hp2 HG02602.hp2 HG03490.hp1 NA18906.hp2 NA18952.hp2 NA18953.hp2 NA18968.hp2 NA18970.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp2 NA19005.hp2 NA19054.hp1 NA19057.hp1 NA19065.hp1 NA19075.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 others(19): Show a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0005g0086 a0001c0001t0005g0092 a0001c0001t0005g0093	22	234	0.0940	-19	c.-33 others(36): Show c.-33+2875_-33+2893delATATATATATATATATATT	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	1/14			chr10	TogoVar
PACRGL_chr4_20695458_20737557	20719231	AGTCTTGC others(12): Show AGTCTTGCTAGCAGTCTATC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	412	0.0024	-19	c.610 others(36): Show c.610-5576_610-5558delGTCTTGCTAGCAGTCTATC	PACRGL	ENSG00000163138.19	transcript	ENST00000503585.6	protein_coding	7/8			chr4	TogoVar
PACRG_chr6_162722974_163320500	163196921	AGACAGAT others(12): Show AGACAGATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02572.hp2 others(1): Show HG02109.hp2 HG02258.hp2 HG02572.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0003	a0001c0001t0001g0104 a0001c0001t0002g0050 a0001c0001t0003g0068 others(1): Show a0001c0001t0001g0104 a0001c0001t0002g0050 a0001c0001t0003g0068 a0001c0003t0003g0065	4	130	0.0308	-19	c.613 others(40): Show c.613+107514_613+107532delGACAGATAGATAGATAGAT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4			chr6	TogoVar
PACRG_chr6_162722974_163320500	163213861	ACATTGGT others(12): Show ACATTGGTTTAAATAATGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01169.hp2 HG01346.hp1 others(29): Show HG00140.hp2 HG01169.hp2 HG01346.hp1 HG01361.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG02004.hp1 HG02109.hp2 HG02148.hp1 HG02559.hp2 HG02615.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp2 HG03516.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0002t0010 a0001c0003t0003	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0019 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0002g0003 a0001c0001t0002g0029 a0001c0001t0002g0047 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0086 a0001c0001t0002g0129 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0004g0073 a0001c0001t0005g0071 a0001c0001t0006g0009 a0001c0001t0007g0094 a0001c0001t0009g0088 a0001c0001t0013g0013 a0001c0002t0010g0027 a0001c0003t0003g0061 a0001c0003t0003g0065	32	130	0.2462	-19	c.614 others(40): Show c.614-100965_614-100947delCATTGGTTTAAATAATGAG	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4			chr6	TogoVar
PACS1_chr11_66065272_66249744	66156236	ATATATAT others(12): Show ATATATATATATATATATAG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	322	0.0031	-19	c.357 others(38): Show c.357-37248_357-37230delATATATATATATATATAGT	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACSIN3_chr11_47172522_47191434	47172924	ACAGAACA others(12): Show ACAGAACAAACCGAGGTCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0028	-19	c.49 others(30): Show c.4988_*5006delCTGACCTCGGTTTGTTCTG	PACSIN3	ENSG00000165912.16	transcript	ENST00000298838.11	protein_coding		4597		chr11	TogoVar
PACSIN3_chr11_47172522_47191434	47174367	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG03225.hp2 HG02818.hp2 HG03225.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0015 a0003c0005t0001g0015	2	364	0.0055	-19	c.35 others(30): Show c.3545_*3563delAAAAAAAAAAAAAAAAAAA	PACSIN3	ENSG00000165912.16	transcript	ENST00000298838.11	protein_coding		3154		chr11	TogoVar
PAFAH1B1_chr17_2588654_2690615	2621605	GTCTTTTT others(12): Show GTCTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02717.hp2 others(3): Show HG02258.hp2 HG02280.hp2 HG02717.hp2 HG02922.hp1 HG02970.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0017g0010	6	280	0.0214	-19	c.-19 others(40): Show c.-190-16492_-190-16474delCTTTTTTTTTTTTTTTTTT	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
PAFAH1B1_chr17_2588654_2690615	2621607	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG00738.hp1 others(23): Show HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01099.hp1 HG01175.hp1 HG01261.hp1 HG01433.hp2 HG01516.hp1 HG02015.hp1 HG02080.hp1 HG02683.hp1 HG02723.hp2 HG02735.hp2 HG02965.hp2 HG03017.hp2 HG03490.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18943.hp1 NA18946.hp2 NA18960.hp1 NA18986.hp1 NA19066.hp2 NA19084.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 a0001c0001t0033	a0001c0001t0001g0024 a0001c0001t0001g0037 a0001c0001t0001g0042 others(23): Show a0001c0001t0001g0024 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0095 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0161 a0001c0001t0001g0220 a0001c0001t0002g0036 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0122 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0005g0051 a0001c0001t0014g0048 a0001c0001t0014g0049 a0001c0001t0033g0026	26	280	0.0929	-19	c.-19 others(40): Show c.-190-16474_-190-16456delTTTTTTTTTTTTTTTTTTT	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172379	TATATATA others(12): Show TATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0014 a0001c0001t0006g0014	1	432	0.0023	-19	c.46 others(30): Show c.4681_*4699delATATATATATATATATATA	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1335		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172381	TATATATA others(12): Show TATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG03927.hp2 NA18956.hp2 others(2): Show HG00597.hp1 HG03927.hp2 NA18956.hp2 NA19062.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0014 a0001c0001t0006 a0001c0001t0014	a0001c0001t0006g0008 a0001c0001t0006g0220 a0001c0001t0014g0216 others(2): Show a0001c0001t0006g0008 a0001c0001t0006g0220 a0001c0001t0014g0216 a0001c0001t0014g0217 a0001c0001t0014g0218	5	432	0.0116	-19	c.46 others(30): Show c.4683_*4701delATATATATATATATATATA	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1337		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172383	TATATATA others(12): Show TATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0221 a0001c0001t0014g0221	1	432	0.0023	-19	c.46 others(30): Show c.4685_*4703delATATATATATATATATATA	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1339		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172386	ATATATAT others(12): Show ATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0180 a0001c0001t0004g0180	1	432	0.0023	-19	c.46 others(30): Show c.4688_*4706delTATATATATATATATATAT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1342		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172396	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0113 a0001c0001t0052g0113	1	432	0.0023	-19	c.46 others(30): Show c.4698_*4716delTATATATATTTTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1352		chr11	TogoVar
PAGE1_chrX_49682447_49700984	49689572	AAAAATAT others(12): Show AAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	322	0.0031	-19	c.293 others(32): Show c.293-48_293-30delATATATATATATATATTTT	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAH_chr12_102831889_102922244	102871932	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	2	312	0.0064	-19	c.442 others(36): Show c.442-5288_442-5270delATTTTTTTTTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102871934	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01952.hp1 HG01978.hp1 others(3): Show HG01928.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0010 a0001c0001t0002 a0001c0007t0010	a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 others(3): Show a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0007t0010g0032	6	312	0.0192	-19	c.442 others(36): Show c.442-5290_442-5272delATATTTTTTTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar

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