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
ATRN_chr20_3466018_3656118	3613685	TAGATTTT others(28): Show TAGATTTTAAAAATTGAGATTCTCCTTTTTTAAATG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(14): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01169.hp1 HG01517.hp2 HG02015.hp1 HG02257.hp1 HG02602.hp1 HG02698.hp1 HG02738.hp2 HG03704.hp2 HG04228.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0010 a0001c0001 a0001c0003 a0006c0010	a0001c0001t0005 a0001c0001t0023 a0001c0001t0028 others(3): Show a0001c0001t0005 a0001c0001t0023 a0001c0001t0028 a0001c0003t0005 a0006c0010t0005 a0006c0010t0018	a0001c0001t0005g0015 a0001c0001t0005g0036 a0001c0001t0005g0056 others(14): Show a0001c0001t0005g0015 a0001c0001t0005g0036 a0001c0001t0005g0056 a0001c0001t0005g0061 a0001c0001t0005g0064 a0001c0001t0005g0068 a0001c0001t0005g0080 a0001c0001t0005g0120 a0001c0001t0005g0121 a0001c0001t0005g0138 a0001c0001t0005g0175 a0001c0001t0023g0087 a0001c0001t0028g0017 a0001c0003t0005g0190 a0006c0010t0005g0127 a0006c0010t0018g0126 a0006c0010t0018g0128	17	220	0.0773	-35	c.380 others(54): Show c.3801+9552_3801+9586delCTTTTTTAAATGAGATTTTAAAAATT GAGATTCTC	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	24/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATXN10_chr22_45666834_45850307	45795354	GATTCTAT others(28): Show GATTCTATTCTATTCTATTCTATTCTATTCTATTCT	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18522.hp1 NA20300.hp2 HG03098.hp1 NA18522.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0266 a0001c0001t0008g0300 a0001c0001t0008g0302 a0001c0001t0001g0266 a0001c0001t0008g0300 a0001c0001t0008g0302	3	316	0.0095	-35	c.117 others(56): Show c.1174-11569_1174-11535delATTCTATTCTATTCTATTCTATTC TATTCTATTCT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45819192	AAATAGAA others(28): Show AAATAGAATAGAATAGAATAGAATAGAATAGAATAG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02818.hp1 HG03540.hp1 others(2): Show HG02572.hp1 HG02818.hp1 HG03540.hp1 HG03579.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 others(2): Show a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0009g0133	5	316	0.0158	-35	c.123 others(56): Show c.1237+12196_1237+12230delAATAGAATAGAATAGAATAGAATA GAATAGAATAG	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN7L1_chr7_105599772_105881599	105619518	ATATATAT others(28): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0195 a0001c0001t0017g0195	1	252	0.0040	-35	c.151 others(52): Show c.1517+647_1517+681delAAAAAAAAAAAAAAAAAAAAAAATATAT ATATATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105863707	GAGCCTCA others(28): Show GAGCCTCAGCTTCCCAATCTCTGAAATAGGGTTGAT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0007 a0007c0009t0007	a0007c0009t0007g0096 a0007c0009t0007g0096	1	252	0.0040	-35	c.250 others(54): Show c.250+12070_250+12104delATCAACCCTATTTCAGAGATTGGGAA GCTGAGGCT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11			chr7	TogoVar
AURKC_chr19_57226023_57240548	57237573	AACAGCTT others(28): Show AACAGCTTGCACGCTAATTAAGCAACATTTCTCAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	410	0.0024	-35	c.21 others(46): Show c.2157_*2191delACAGCTTGCACGCTAATTAAGCAACATTTCTCAA T	AURKC	ENSG00000105146.14	transcript	ENST00000302804.12	protein_coding		2026		chr19	TogoVar
AUTS2_chr7_69593475_70798506	70224331	GTACAATA others(28): Show GTACAATACAATACAATACAATACAATACAATACAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00280.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0071 a0001c0001t0003g0068 a0001c0001t0001g0071 a0001c0001t0003g0068	2	76	0.0263	-35	c.660 others(54): Show c.660+89798_660+89832delCAATACAATACAATACAATACAATAC AATACAATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678917	GTGTGTGT others(28): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0164 a0006c0007t0001g0164	1	446	0.0022	-35	c.287 others(50): Show c.287+667_287+701delACACACACACACACACACACACACACACAC ACACA	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AVPI1_chr10_97672424_97692241	97678965	GTGTGTGT others(28): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0153 a0002c0002t0002g0153	1	446	0.0022	-35	c.287 others(50): Show c.287+619_287+653delACACACACACACACACACACACACACACAC ACACA	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
B3GNTL1_chr17_82937149_83056770	83003145	TCCCACTC others(28): Show TCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02155.hp1 NA18973.hp1 others(1): Show HG01106.hp2 HG02155.hp1 NA18973.hp1 NA19012.hp2	a0001 a0001	a0001c0006 a0001c0007 a0001c0016 a0001c0006 a0001c0007 a0001c0016	a0001c0006t0002 a0001c0007t0005 a0001c0016t0001 a0001c0006t0002 a0001c0007t0005 a0001c0016t0001	a0001c0006t0002g0031 a0001c0007t0005g0229 a0001c0016t0001g0008 others(1): Show a0001c0006t0002g0031 a0001c0007t0005g0229 a0001c0016t0001g0008 a0001c0016t0001g0009	4	266	0.0150	-35	c.459 others(52): Show c.459+1935_459+1969delCTCAGGAATCCCACACGCGGACTGCAGA GAGTGGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003189	CCGCGTGT others(28): Show CCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACTCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19043.hp1 HG02572.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0014 a0002c0010 a0001c0014 a0002c0010	a0001c0014t0002 a0002c0010t0007 a0001c0014t0002 a0002c0010t0007	a0001c0014t0002g0011 a0002c0010t0007g0222 a0001c0014t0002g0011 a0002c0010t0007g0222	2	266	0.0075	-35	c.459 others(52): Show c.459+1891_459+1925delAGAGTGGGAGGGCGGGCTCAGGAATCCC ACACGCG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003581	CTCCCACT others(28): Show CTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGA	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0084 a0001c0002t0002g0084	1	266	0.0038	-35	c.459 others(52): Show c.459+1499_459+1533delTCAGGAATCCCACACGCGGACTGCAGAG AGTGGGA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BAG4_chr8_38171855_38218301	38201852	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18961.hp1 NA18946.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0063 a0001c0001t0006g0079 a0001c0001t0006g0063 a0001c0001t0006g0079	2	306	0.0065	-35	c.379 others(52): Show c.379-5658_379-5624delATATATATATATATATATATATATATAT TTTTTTT	BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
BAG4_chr8_38171855_38218301	38201854	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03540.hp2 HG02630.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0293 a0001c0001t0010g0294 a0001c0001t0010g0293 a0001c0001t0010g0294	2	306	0.0065	-35	c.379 others(52): Show c.379-5656_379-5622delATATATATATATATATATATATATATTT TTTTTTT	BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
BAHCC1_chr17_81390457_81471331	81432481	ACTGTCCA others(28): Show ACTGTCCATTGCCCCCTGTGGCTTGAGGGCGGCCCC	A A	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0056 a0056	a0056c0100 a0056c0100	a0056c0100t0001 a0056c0100t0001	a0056c0100t0001g0237 a0056c0100t0001g0237	1	332	0.0030	-35	c.358 others(52): Show c.358+5503_358+5537delCTGTCCATTGCCCCCTGTGGCTTGAGGG CGGCCCC	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	3/27			chr17	TogoVar
BAIAP2L2_chr22_38079900_38115684	38083742	AGGAGGGT others(28): Show AGGAGGGTGTACTCAGAGACAGGTGCACCAGGAGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 homoSapiens_chm13v2.hp1 HG01168.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0010 a0002c0002t0001g0011	2	18	0.1111	-35	c.15 others(46): Show c.1523_*1557delGGCTCCTGGTGCACCTGTCTCTGAGTACACCCTC C	BAIAP2L2	ENSG00000128298.18	transcript	ENST00000381669.8	protein_coding		1157		chr22	TogoVar
BANK1_chr4_101785730_102079812	101839937	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01069.hp1 HG01071.hp2 others(9): Show HG00673.hp2 HG01069.hp1 HG01071.hp2 HG01123.hp1 HG02015.hp2 HG02083.hp1 HG02165.hp1 HG02273.hp2 HG02293.hp1 NA18972.hp1 NA19005.hp2 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0002c0003t0002	a0001c0002t0001g0174 a0001c0002t0001g0177 a0001c0002t0001g0180 others(9): Show a0001c0002t0001g0174 a0001c0002t0001g0177 a0001c0002t0001g0180 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0277 a0001c0002t0002g0208 a0001c0002t0005g0175 a0001c0002t0005g0178 a0001c0002t0005g0179 a0001c0002t0005g0181 a0002c0003t0002g0176	12	284	0.0423	-35	c.469 others(52): Show c.469+9746_469+9780delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BATF2_chr11_64982945_65001971	64983537	TATTTTAT others(28): Show TATTTTATTTTATATTTTATTTTATATTTTATTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	404	0.0025	-35	c.55 others(46): Show c.5557_*5591delTAAAATAAAATATAAAATAAAATATAAAATAAAA T	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding		4407		chr11	TogoVar
BAZ2B_chr2_159313979_159621548	159355318	CCTAGGAA others(28): Show CCTAGGAAGCATCTTGAAGATAGTGGAAGGAAGATG	C C	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18980.hp1 NA18946.hp2 NA18980.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0114 a0007c0010t0001g0115 a0007c0010t0001g0114 a0007c0010t0001g0115	2	216	0.0093	-35	c.421 others(54): Show c.4214-4996_4214-4962delCATCTTCCTTCCACTATCTTCAAGAT GCTTCCTAG	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	27/36			chr2	TogoVar
BBS4_chr15_72681207_72743473	72725866	TTTCCCCA others(28): Show TTTCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0360 a0001c0001t0001g0360	1	398	0.0025	-35	c.587 others(52): Show c.587+1213_587+1247delTCCCCATCCCCCTTTCCCCATCCCCCTT TCCCCAT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BCL2L13_chr22_17633757_17735855	17715144	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0019 a0005c0008t0019	a0005c0008t0019g0298 a0005c0008t0019g0298	1	306	0.0033	-35	c.601 others(54): Show c.601-11531_601-11497delATATATATATATATATATATATATAT TTTTTTTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL6B_chr17_7018050_7034644	7033296	CCCACTTC others(28): Show CCCACTTCCAAAGCCACTTCATCATTTTCCGTTATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	356	0.0028	-35	c.56 others(46): Show c.5678_*5712delCCACTTCCAAAGCCACTTCATCATTTTCCGTTAT T	BCL6B	ENSG00000161940.11	transcript	ENST00000293805.10	protein_coding		3653		chr17	TogoVar
BCL9_chr1_147536501_147631216	147541084	AAGAGAGA others(28): Show AAGAGAGAGAGAGAGAAGAGAGAGAGAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG03098.hp2 NA20300.hp2 HG00621.hp2 HG03098.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009	a0001c0001t0004g0189 a0001c0001t0006g0230 a0001c0001t0009g0228 a0001c0001t0004g0189 a0001c0001t0006g0230 a0001c0001t0009g0228	3	316	0.0095	-35	c.-10 others(46): Show c.-1067_-1033delAGAGAGAGAGAGAGAAGAGAGAGAGAGAGAGAGA G	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding		416		chr1	TogoVar
BIN2_chr12_51276038_51329174	51295576	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0072 a0002c0002t0001g0072	1	400	0.0025	-35	c.761 others(50): Show c.761+185_761+219delATATATATATATATATATATATATATATAT ATATT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	9/12			chr12	TogoVar
BIN2_chr12_51276038_51329174	51295578	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00558.hp2 others(65): Show HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01081.hp1 HG01109.hp2 HG01361.hp2 HG01928.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02080.hp2 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp2 HG02647.hp2 HG02717.hp2 HG02895.hp1 HG03098.hp2 HG03453.hp1 HG03540.hp2 NA18747.hp1 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19070.hp2 NA19074.hp1 NA19083.hp1 NA19086.hp2 NA19088.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 others(1): Show a0001c0001 a0001c0009 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0009t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0002 a0002c0002t0002 a0002c0007t0001	a0001c0001t0001g0086 a0001c0001t0001g0191 a0001c0001t0001g0213 others(60): Show a0001c0001t0001g0086 a0001c0001t0001g0191 a0001c0001t0001g0213 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0282 a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0020 a0001c0001t0002g0093 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0009t0002g0171 a0001c0009t0002g0174 a0001c0009t0002g0181 a0002c0002t0002g0007 a0002c0002t0002g0067 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0007t0001g0027 a0002c0007t0001g0028 a0002c0007t0001g0031 a0002c0007t0001g0062	68	400	0.1700	-35	c.761 others(50): Show c.761+183_761+217delATATATATATATATATATATATATATATAT ATATA	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	9/12			chr12	TogoVar
BIN2_chr12_51276038_51329174	51295580	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp2 HG01884.hp2 others(6): Show HG01109.hp1 HG01167.hp2 HG01884.hp2 HG02486.hp1 HG02886.hp1 HG02970.hp1 HG02976.hp1 HG03486.hp1 HG03540.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0010 a0002c0002 a0008c0010	a0002c0002t0001 a0002c0002t0002 a0008c0010t0001 a0002c0002t0001 a0002c0002t0002 a0008c0010t0001	a0002c0002t0001g0055 a0002c0002t0001g0059 a0002c0002t0001g0060 others(5): Show a0002c0002t0001g0055 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0002g0006 a0002c0002t0002g0057 a0002c0002t0002g0058 a0008c0010t0001g0053	9	400	0.0225	-35	c.761 others(50): Show c.761+181_761+215delATATATATATATATATATATATATATATAT ATATA	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	9/12			chr12	TogoVar
BIN3_chr8_22615418_22674121	22624395	TTCTTGAA others(28): Show TTCTTGAAGGGGTGGCCTGGCTGGAGATGGGTCTGC	T T	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0213 a0001c0002t0001g0213	1	386	0.0026	-35	c.339 others(48): Show c.339-67_339-33delGCAGACCCATCTCCAGCCAGGCCACCCCTTCA AGA	BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding	6/8			chr8	TogoVar
BIRC6_chr2_32352023_32623878	32461043	TTCTCTTC others(28): Show TTCTCTTCTCTTCTCTTCTCTTCTGTTCTCCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0157 a0001c0014t0003g0157	1	274	0.0037	-35	c.475 others(54): Show c.4754-2146_4754-2112delTTCTCTTCTCTTCTCTTCTGTTCTCC TCTCCTCTC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461058	TTCTCTTC others(28): Show TTCTCTTCTGTTCTCCTCTCCTCTCCTCTCCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0126 a0001c0003t0003g0126	1	274	0.0037	-35	c.475 others(54): Show c.4754-2131_4754-2097delTTCTGTTCTCCTCTCCTCTCCTCTCC TCTCCTCTC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMP5_chr6_55748653_55880590	55853138	TAAATAAA others(28): Show TAAATAAAATAAAATAAAATAAAATAAAATAAAATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(44): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00597.hp2 HG00639.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp1 HG01261.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp2 HG02040.hp1 HG02109.hp2 HG02135.hp1 HG02451.hp1 HG02572.hp2 HG02602.hp2 HG02683.hp2 HG02809.hp2 HG02895.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 NA18954.hp1 NA18963.hp2 NA18964.hp2 NA18971.hp1 NA18978.hp2 NA18983.hp2 NA18993.hp2 NA19002.hp2 NA19009.hp1 NA19085.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0005c0013	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(14): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0010 a0001c0002t0020 a0001c0003t0001 a0001c0003t0011 a0001c0004t0001 a0001c0004t0004 a0005c0013t0004	a0001c0001t0001g0168 a0001c0001t0001g0193 a0001c0001t0005g0289 others(44): Show a0001c0001t0001g0168 a0001c0001t0001g0193 a0001c0001t0005g0289 a0001c0001t0011g0288 a0001c0001t0011g0290 a0001c0001t0027g0149 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0051 a0001c0002t0001g0065 a0001c0002t0001g0102 a0001c0002t0001g0106 a0001c0002t0001g0112 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0002g0063 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0129 a0001c0002t0003g0101 a0001c0002t0003g0105 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0124 a0001c0002t0003g0130 a0001c0002t0004g0109 a0001c0002t0006g0052 a0001c0002t0008g0027 a0001c0002t0010g0018 a0001c0002t0010g0103 a0001c0002t0020g0015 a0001c0003t0001g0194 a0001c0003t0011g0287 a0001c0004t0001g0087 a0001c0004t0001g0107 a0001c0004t0001g0108 a0001c0004t0001g0110 a0001c0004t0001g0113 a0001c0004t0001g0114 a0001c0004t0001g0133 a0001c0004t0004g0111 a0001c0004t0004g0115 a0005c0013t0004g0167	47	320	0.1469	-35	c.490 others(54): Show c.490+21203_490+21237delTATTTTATTTTATTTTATTTTATTTT ATTTTATTT	BMP5	ENSG00000112175.8	transcript	ENST00000370830.4	protein_coding	1/6			chr6	TogoVar
BNC2_chr9_16404503_16875670	16539607	AGAGAGAG others(28): Show AGAGAGAGAGAGAAGGGAGGGAGGGAGCGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01433.hp1 HG02056.hp1 others(12): Show HG01106.hp2 HG01433.hp1 HG02056.hp1 HG02738.hp1 HG04184.hp1 NA18943.hp1 NA18948.hp1 NA18950.hp2 NA18954.hp2 NA18971.hp2 NA18982.hp1 NA18986.hp1 NA19003.hp1 NA19005.hp2 NA19056.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0003 a0011c0019 a0001c0001 a0002c0003 a0011c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 a0001c0001t0018 a0001c0001t0040 a0001c0001t0046 a0001c0001t0062 a0001c0001t0110 a0002c0003t0001 a0002c0003t0070 a0011c0019t0076	a0001c0001t0001g0053 a0001c0001t0001g0141 a0001c0001t0002g0112 others(12): Show a0001c0001t0001g0053 a0001c0001t0001g0141 a0001c0001t0002g0112 a0001c0001t0002g0145 a0001c0001t0002g0169 a0001c0001t0010g0146 a0001c0001t0011g0106 a0001c0001t0018g0095 a0001c0001t0040g0165 a0001c0001t0046g0007 a0001c0001t0062g0020 a0001c0001t0110g0008 a0002c0003t0001g0090 a0002c0003t0070g0163 a0011c0019t0076g0003	15	176	0.0852	-35	c.669 others(54): Show c.669+12888_669+12922delCCTCCCTCGCTCCCTCCCTCCCTTCT CTCTCTCTC	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6			chr9	TogoVar
BOP1_chr8_144257045_144296438	144275414	AGTGCCAG others(28): Show AGTGCCAGCCTCTCCACGCCGGCGGAACCCAGCCCG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02965.hp1 NA18522.hp2 HG02257.hp2 HG02965.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0001 a0001c0002t0001 a0001c0006t0001	a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0006t0001g0165 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0006t0001g0165	3	398	0.0075	-35	c.390 others(50): Show c.390+775_390+809delCGGGCTGGGTTCCGCCGGCGTGGAGAGGCT GGCAC	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	3/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144275440	ACCCAGCC others(28): Show ACCCAGCCCGGTGCCAGCCTCTCCACGCTGGCGGAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(181): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18980.hp2 NA18984.hp2 NA18999.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19085.hp1 NA19087.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0006 a0008 others(4): Show a0001 a0006 a0008 a0014 a0015 a0016 a0019	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0020 a0001c0025 a0001c0027 a0001c0028 a0006c0013 a0008c0029 a0014c0019 a0015c0021 a0016c0022 a0019c0014	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(12): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0008t0001 a0001c0020t0001 a0001c0025t0001 a0001c0027t0001 a0001c0028t0001 a0006c0013t0001 a0008c0029t0001 a0014c0019t0001 a0015c0021t0001 a0016c0022t0001 a0019c0014t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(171): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0109 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0177 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0247 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0361 a0001c0001t0001g0363 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0369 a0001c0002t0001g0003 a0001c0002t0001g0036 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0374 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0364 a0001c0006t0001g0166 a0001c0006t0001g0167 a0001c0006t0001g0181 a0001c0008t0001g0372 a0001c0008t0001g0373 a0001c0008t0001g0375 a0001c0020t0001g0129 a0001c0025t0001g0360 a0001c0027t0001g0130 a0001c0028t0001g0188 a0006c0013t0001g0303 a0006c0013t0001g0304 a0008c0029t0001g0204 a0014c0019t0001g0283 a0015c0021t0001g0183 a0016c0022t0001g0316 a0019c0014t0001g0220	184	398	0.4623	-35	c.390 others(50): Show c.390+749_390+783delCTCCGCCAGCGTGGAGAGGCTGGCACCGGG CTGGG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	3/15			chr8	TogoVar
BPHL_chr6_3113711_3158578	3145758	GAGTGCTG others(28): Show GAGTGCTGGTTCAGGTTGGAGTGCTGGTTCCGGCTA	G G	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	350	0.0029	-35	c.788 others(52): Show c.788+5250_788+5284delAGTGCTGGTTCAGGTTGGAGTGCTGGTT CCGGCTA	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6			chr6	TogoVar
BPHL_chr6_3113711_3158578	3145827	CGAGTGCT others(28): Show CGAGTGCTGGTTCAGGTTGGAGTGCTGGTTCCGGCT	C C	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA19010.hp1 NA18989.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0148 a0001c0001t0001g0100 a0001c0001t0001g0148	2	350	0.0057	-35	c.788 others(52): Show c.788+5320_788+5354delAGTGCTGGTTCAGGTTGGAGTGCTGGTT CCGGCTG	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BPHL_chr6_3113711_3158578	3146000	GGGGTGGA others(28): Show GGGGTGGAGTGCTGGTTCGGGTCCGAGTGCTGGTTC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01884.hp1 HG01884.hp2 others(28): Show HG00280.hp1 HG01884.hp1 HG01884.hp2 HG02258.hp2 HG02451.hp2 HG02572.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03927.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18944.hp2 NA18979.hp2 NA19011.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0006 a0001c0001 a0001c0005 a0003c0006	a0001c0001t0002 a0001c0001t0004 a0001c0005t0002 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0005t0002 a0003c0006t0002	a0001c0001t0002g0018 a0001c0001t0002g0038 a0001c0001t0002g0043 others(23): Show a0001c0001t0002g0018 a0001c0001t0002g0038 a0001c0001t0002g0043 a0001c0001t0002g0099 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0144 a0001c0001t0002g0228 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0004g0015 a0001c0001t0004g0039 a0001c0001t0004g0044 a0001c0001t0004g0201 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0005t0002g0045 a0003c0006t0002g0229 a0003c0006t0002g0230 a0003c0006t0002g0231 a0003c0006t0002g0233 a0003c0006t0002g0234	31	350	0.0886	-35	c.788 others(52): Show c.788+5513_788+5547delCCGAGTGCTGGTTCGGGTGGAGTGCTGG TTCGGGT	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BPIFA1_chr20_33230996_33248306	33235452	CCTCTATA others(28): Show CCTCTATAAAAGAGGAGGAGTCACCTCTCCCTCTCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	382	0.0026	-35	c.-61 others(44): Show c.-613_-579delCTCTATAAAAGAGGAGGAGTCACCTCTCCCTCTCA	BPIFA1	ENSG00000198183.13	transcript	ENST00000354297.9	protein_coding		543		chr20	TogoVar
BRF1_chr14_105204286_105306001	105280902	CAGCCTGC others(28): Show CAGCCTGCGTGACCCTGAGCCCAGGTGTGTGGACAG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp1 NA19030.hp1 HG02630.hp1 HG02717.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0009 a0001c0001t0002 a0001c0001t0003 a0001c0003t0009	a0001c0001t0002g0059 a0001c0001t0003g0034 a0001c0003t0009g0001 a0001c0001t0002g0059 a0001c0001t0003g0034 a0001c0003t0009g0001	3	72	0.0417	-35	c.265 others(52): Show c.265+5359_265+5393delCTGTCCACACACCTGGGCTCAGGGTCAC GCAGGCT	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRINP3_chr1_190092658_190482864	190482353	ATATATAT others(28): Show ATATATATACACATATATATGTGTATATATATATAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00621.hp1 HG01358.hp1 others(37): Show HG00140.hp1 HG00621.hp1 HG01358.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG02040.hp2 HG02055.hp2 HG02145.hp2 HG02155.hp1 HG02280.hp2 HG02572.hp1 HG02630.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03516.hp2 HG03688.hp2 HG03927.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18948.hp2 NA18963.hp1 NA18971.hp1 NA18979.hp1 NA18979.hp2 NA18987.hp1 NA19000.hp1 NA19043.hp2 NA19054.hp1 NA19079.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0195 a0001c0001t0002g0203 a0001c0001t0002g0204 others(37): Show a0001c0001t0001g0195 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0005g0003 a0001c0001t0010g0240	40	240	0.1667	-35	c.-49 others(46): Show c.-4991_-4957delGTATATATATATACACATATATATGTGTATATAT A	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding		4490		chr1	TogoVar
BRSK2_chr11_1384934_1467689	1446351	AGCTGGGC others(28): Show AGCTGGGCAGGGCTGGGCTGAGCTGGGCAGGGCTGG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	360	0.0028	-35	c.122 others(52): Show c.1226+452_1226+486delAGGGCTGGGCTGAGCTGGGCAGGGCTGG GCTGGGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRWD1_chr21_39180482_39318632	39217046	TATATTTA others(28): Show TATATTTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	338	0.0030	-35	c.365 others(54): Show c.3659+1071_3659+1105delTATATATATATATATATATATATATA TATAAATAT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39217049	ATTTATAT others(28): Show ATTTATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	338	0.0030	-35	c.365 others(54): Show c.3659+1068_3659+1102delATATATATATATATATATATATATAT ATATATAAA	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39217061	ATATATAT others(28): Show ATATATATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0025 a0004c0003t0025	a0004c0003t0025g0002 a0004c0003t0025g0002	1	338	0.0030	-35	c.365 others(54): Show c.3659+1056_3659+1090delAAAAAAAAAAAAATATATATATATAT ATATATATA	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40			chr21	TogoVar
BRWD3_chrX_80664503_80814877	80725790	TATAACAT others(28): Show TATAACATGTTTACATGTGTTACATGCCTATATAAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02486.hp1 others(2): Show HG01109.hp1 HG01891.hp2 HG02486.hp1 NA19011.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0008 a0001c0001t0018 a0001c0001t0032 others(1): Show a0001c0001t0008 a0001c0001t0018 a0001c0001t0032 a0001c0007t0018	a0001c0001t0008g0125 a0001c0001t0008g0127 a0001c0001t0018g0110 others(2): Show a0001c0001t0008g0125 a0001c0001t0008g0127 a0001c0001t0018g0110 a0001c0001t0032g0095 a0001c0007t0018g0109	5	265	0.0189	-35	c.138 others(52): Show c.1387-758_1387-724delGTTATATAGGCATGTAACACATGTAAAC ATGTTAT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	14/40			chrX	TogoVar
BRWD3_chrX_80664503_80814877	80725945	CATGTCTA others(28): Show CATGTCTATATAACACATAACATGTTTACATGTTAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0144 a0001c0001t0144	a0001c0001t0144g0223 a0001c0001t0144g0223	1	265	0.0038	-35	c.138 others(52): Show c.1387-913_1387-879delATAACATGTAAACATGTTATGTGTTATA TAGACAT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	14/40			chrX	TogoVar
BRWD3_chrX_80664503_80814877	80726134	CATATGTC others(28): Show CATATGTCTGTATAACATATAACACGTTTACATGTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(16): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00621.hp1 HG00642.hp1 HG00733.hp2 HG00741.hp2 HG01070.hp2 HG02015.hp1 HG02602.hp1 HG02683.hp2 HG03017.hp1 HG03195.hp1 HG03579.hp1 HG03927.hp2 HG04184.hp1 NA18950.hp1 NA18975.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0050 a0001c0001t0052 a0001c0001t0055 others(16): Show a0001c0001t0050 a0001c0001t0052 a0001c0001t0055 a0001c0001t0056 a0001c0001t0059 a0001c0001t0073 a0001c0001t0080 a0001c0001t0092 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0124 a0001c0001t0126 a0001c0001t0127 a0001c0001t0145 a0001c0001t0148 a0001c0001t0158 a0001c0001t0159 a0001c0002t0034	a0001c0001t0050g0009 a0001c0001t0052g0013 a0001c0001t0055g0014 others(16): Show a0001c0001t0050g0009 a0001c0001t0052g0013 a0001c0001t0055g0014 a0001c0001t0056g0016 a0001c0001t0059g0025 a0001c0001t0073g0071 a0001c0001t0080g0077 a0001c0001t0092g0140 a0001c0001t0120g0180 a0001c0001t0121g0181 a0001c0001t0122g0182 a0001c0001t0124g0184 a0001c0001t0126g0188 a0001c0001t0127g0189 a0001c0001t0145g0238 a0001c0001t0148g0251 a0001c0001t0158g0261 a0001c0001t0159g0262 a0001c0002t0034g0114	19	265	0.0717	-35	c.138 others(54): Show c.1387-1102_1387-1068delAACATGTAAACGTGTTATATGTTATA CAGACATAT	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	14/40			chrX	TogoVar
BTBD9_chr6_38163451_38644929	38266643	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0085 a0001c0001t0097g0085	1	224	0.0045	-35	c.145 others(56): Show c.1455-10162_1455-10128delCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	8/10			chr6	TogoVar
BTRC_chr10_101349165_101562313	101415486	TTTATGTT others(28): Show TTTATGTTATGTTATGTTATGTTATGTTATGTTATG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(17): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG01175.hp2 HG01993.hp1 HG02015.hp1 HG02071.hp2 HG02523.hp2 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG03041.hp1 NA18962.hp2 NA19005.hp1 NA19007.hp1 NA19060.hp1 NA19084.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0002t0002 a0001c0002t0008 a0002c0003t0001 a0004c0007t0001	a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0099 others(17): Show a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0123 a0001c0001t0001g0136 a0001c0001t0001g0150 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0003g0017 a0001c0001t0003g0105 a0001c0001t0005g0241 a0001c0001t0012g0009 a0001c0002t0002g0024 a0001c0002t0008g0002 a0001c0002t0008g0003 a0002c0003t0001g0092 a0002c0003t0001g0137 a0004c0007t0001g0228	20	266	0.0752	-35	c.49- others(52): Show c.49-14824_49-14790delGTTATGTTATGTTATGTTATGTTATGTT ATGTTAT	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
C10orf95_chr10_102444837_102456543	102449142	GGAGACAT others(28): Show GGAGACATTCATCTTAACTTCCAATTAGGCCGGGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG02735.hp1 HG03017.hp1 others(4): Show HG01255.hp1 HG02735.hp1 HG03017.hp1 HG03491.hp1 HG03688.hp1 HG04115.hp1 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	7	452	0.0155	-35	c.12 others(46): Show c.1275_*1309delGGCCCGGCCTAATTGGAAGTTAAGATGAATGTCT C	C10orf95	ENSG00000120055.7	transcript	ENST00000625129.1	protein_coding		694		chr10	TogoVar
C11orf71_chr11_114393532_114405511	114394228	CTTTCTTT others(28): Show CTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02258.hp1 HG02723.hp1 others(1): Show HG01167.hp1 HG02258.hp1 HG02723.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	4	422	0.0095	-35	c.56 others(46): Show c.5697_*5731delAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA A	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4303		chr11	TogoVar

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Search Results (Total: 2085 hits)