Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ALG1L2_chr3_130076831_130103390	130079049	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0139 a0001c0003t0001g0139	1	11	0.0909	11	c.-29 others(22): Show c.-2968_-2967insAAAAAAAAAAA	ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding		2781		chr3	TogoVar
ALG1L2_chr3_130076831_130103390	130080282	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01069.hp2 HG01261.hp2 others(20): Show HG00741.hp2 HG01069.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG02132.hp2 HG02896.hp1 HG02976.hp2 HG03017.hp1 HG03139.hp1 HG03453.hp1 HG03669.hp2 HG03704.hp2 HG03942.hp1 NA18953.hp1 NA18978.hp1 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18988.hp1 NA19059.hp2 NA19076.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0008 others(2): Show a0001c0001 a0001c0006 a0001c0008 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0006t0002 a0001c0008t0002 others(2): Show a0001c0001t0001 a0001c0006t0002 a0001c0008t0002 a0002c0002t0001 a0002c0007t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 others(13): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0108 a0001c0006t0002g0064 a0001c0008t0002g0067 a0002c0002t0001g0004 a0002c0002t0001g0019 a0002c0002t0001g0059 a0002c0002t0001g0061 a0002c0002t0001g0074 a0002c0007t0001g0072 a0002c0007t0001g0073	23	39	0.5897	11	c.-17 others(22): Show c.-1735_-1734insTTTTTTTTTTT	ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding		1548		chr3	TogoVar
ALG1L2_chr3_130076831_130103390	130101452	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0032 a0003c0011t0001g0032	1	67	0.0149	11	c.31 others(22): Show c.3197_*3198insAAAAAAAAAAA	ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding		3063		chr3	TogoVar
ALG1L2_chr3_130076831_130103390	130101467	A A	AACAAAAC others(4): Show AACAAAACAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02818.hp2 HG03453.hp2 HG02258.hp2 HG02818.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0086 a0001c0001t0003g0021 a0001c0001t0003g0086	3	260	0.0115	11	c.32 others(22): Show c.3212_*3213insACAAAACAAAC	ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding		3078		chr3	TogoVar
ALG5_chr13_36944738_37004340	36977790	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0189 a0003c0003t0001g0189	1	249	0.0040	11	c.562 others(28): Show c.562-5765_562-5755dupTTTTTTTTTTT	ALG5	ENSG00000120697.10	transcript	ENST00000239891.4	protein_coding	6/9			chr13	TogoVar
ALG5_chr13_36944738_37004340	36996027	T T	TTTTGCAG others(4): Show TTTTGCAGTCCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02109.hp2 HG02486.hp1 others(4): Show HG00639.hp2 HG02109.hp2 HG02486.hp1 HG02886.hp2 HG03579.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0205 a0001c0001t0001g0206 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209	7	274	0.0255	11	c.67- others(24): Show c.67-432_67-431insTGGACTGCAAA	ALG5	ENSG00000120697.10	transcript	ENST00000239891.4	protein_coding	1/9			chr13	TogoVar
ALG8_chr11_78095946_78144626	78130348	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00544.hp2 others(56): Show HG00140.hp1 HG00438.hp2 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01175.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp2 HG02055.hp1 HG02083.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02451.hp2 HG02572.hp2 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03831.hp1 HG03834.hp1 HG04184.hp1 HG04199.hp1 NA18522.hp1 NA18612.hp2 NA18956.hp1 NA18968.hp1 NA18970.hp1 NA18995.hp1 NA19003.hp1 NA19010.hp2 NA19030.hp1 NA19064.hp1 NA19068.hp2 NA19083.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0002c0002 a0003c0004 others(3): Show a0001c0001 a0002c0002 a0003c0004 a0004c0005 a0005c0008 a0006c0006	a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 a0004c0005t0001 a0005c0008t0001 a0006c0006t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0028 others(48): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0176 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0338 a0002c0002t0001g0020 a0002c0002t0001g0031 a0002c0002t0001g0173 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0003c0004t0001g0224 a0003c0004t0001g0226 a0004c0005t0001g0258 a0005c0008t0001g0203 a0006c0006t0001g0273	59	254	0.2323	11	c.96- others(26): Show c.96-2923_96-2913dupTTTTTTTTTTT	ALG8	ENSG00000159063.14	transcript	ENST00000299626.10	protein_coding	1/12			chr11	TogoVar
ALG8_chr11_78095946_78144626	78143317	A A	ACACACAC others(4): Show ACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0347 a0001c0001t0001g0347	1	112	0.0089	11	c.-37 others(22): Show c.-3730_-3729insGTGTGTGTGTG	ALG8	ENSG00000159063.14	transcript	ENST00000299626.10	protein_coding		3692		chr11	TogoVar
ALKBH4_chr7_102451238_102469863	102467215	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	400	0.0025	11	c.-23 others(22): Show c.-2380_-2379insCACACACACAC	ALKBH4	ENSG00000160993.4	transcript	ENST00000292566.4	protein_coding		2353		chr7	TogoVar
ALKBH5_chr17_18178828_18214954	18201786	G G	GATAGATA others(4): Show GATAGATAGATA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0208 a0001c0001t0013g0208	1	369	0.0027	11	c.852 others(28): Show c.852-5029_852-5028insATAGATAGATA	ALKBH5	ENSG00000091542.9	transcript	ENST00000399138.5	protein_coding	2/3			chr17	TogoVar
ALKBH5_chr17_18178828_18214954	18201786	G G	GATAGATA others(4): Show GATAGATAGGTA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01978.hp1 HG02129.hp2 others(4): Show HG01975.hp1 HG01978.hp1 HG02129.hp2 HG03490.hp1 HG03492.hp2 NA18991.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0040 a0001c0001t0002g0041 others(2): Show a0001c0001t0002g0003 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0199	7	375	0.0187	11	c.852 others(28): Show c.852-5029_852-5028insATAGATAGGTA	ALKBH5	ENSG00000091542.9	transcript	ENST00000399138.5	protein_coding	2/3			chr17	TogoVar
ALK_chr2_29187774_29926586	29203485	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01106.hp1 others(5): Show HG00140.hp1 HG00140.hp2 HG01106.hp1 HG02055.hp2 HG02258.hp1 HG02486.hp2 HG02622.hp2 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0001c0025 a0001c0033 others(5): Show a0001c0009 a0001c0025 a0001c0033 a0001c0050 a0001c0051 a0001c0053 a0002c0014 a0002c0030	a0001c0009t0005 a0001c0025t0011 a0001c0033t0001 others(5): Show a0001c0009t0005 a0001c0025t0011 a0001c0033t0001 a0001c0050t0014 a0001c0051t0001 a0001c0053t0001 a0002c0014t0001 a0002c0030t0001	a0001c0009t0005g0054 a0001c0025t0011g0074 a0001c0033t0001g0029 others(5): Show a0001c0009t0005g0054 a0001c0025t0011g0074 a0001c0033t0001g0029 a0001c0050t0014g0077 a0001c0051t0001g0019 a0001c0053t0001g0070 a0002c0014t0001g0009 a0002c0030t0001g0060	8	11	0.7273	11	c.393 others(30): Show c.3938+3675_3938+3685dupAAAAAAAAAAA	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	26/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29216933	G G	GGGCATGT others(4): Show GGGCATGTGTGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01884.hp1 HG01891.hp1 others(27): Show HG01433.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02622.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp1 HG03540.hp2 NA18906.hp1 NA18969.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0006 a0001c0009 a0001c0016 others(20): Show a0001c0006 a0001c0009 a0001c0016 a0001c0020 a0001c0037 a0001c0038 a0002c0001 a0002c0007 a0002c0008 a0002c0011 a0002c0028 a0002c0036 a0002c0047 a0002c0052 a0002c0056 a0003c0010 a0003c0026 a0003c0034 a0003c0043 a0004c0002 a0004c0032 a0004c0042 a0008c0044	a0001c0006t0007 a0001c0009t0005 a0001c0016t0007 others(20): Show a0001c0006t0007 a0001c0009t0005 a0001c0016t0007 a0001c0020t0005 a0001c0037t0005 a0001c0038t0001 a0002c0001t0001 a0002c0007t0001 a0002c0008t0001 a0002c0011t0001 a0002c0028t0001 a0002c0036t0015 a0002c0047t0001 a0002c0052t0001 a0002c0056t0001 a0003c0010t0006 a0003c0026t0002 a0003c0034t0002 a0003c0043t0002 a0004c0002t0003 a0004c0032t0003 a0004c0042t0003 a0008c0044t0012	a0001c0006t0007g0056 a0001c0009t0005g0018 a0001c0016t0007g0004 others(27): Show a0001c0006t0007g0056 a0001c0009t0005g0018 a0001c0016t0007g0004 a0001c0020t0005g0005 a0001c0037t0005g0028 a0001c0038t0001g0035 a0002c0001t0001g0061 a0002c0007t0001g0064 a0002c0007t0001g0066 a0002c0008t0001g0045 a0002c0008t0001g0049 a0002c0011t0001g0042 a0002c0011t0001g0051 a0002c0028t0001g0014 a0002c0036t0015g0080 a0002c0047t0001g0055 a0002c0052t0001g0017 a0002c0056t0001g0040 a0003c0010t0006g0001 a0003c0010t0006g0002 a0003c0026t0002g0015 a0003c0034t0002g0071 a0003c0043t0002g0039 a0004c0002t0003g0025 a0004c0002t0003g0041 a0004c0002t0003g0057 a0004c0002t0003g0058 a0004c0032t0003g0052 a0004c0042t0003g0073 a0008c0044t0012g0078	30	48	0.6250	11	c.364 others(30): Show c.3646-2853_3646-2852insACACACATGCC	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	23/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29396836	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02109.hp1 HG02145.hp1 others(2): Show HG01106.hp2 HG02109.hp1 HG02145.hp1 HG02257.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0048 a0002c0001 a0002c0052 others(2): Show a0001c0048 a0002c0001 a0002c0052 a0003c0003 a0005c0046	a0001c0048t0001 a0002c0001t0001 a0002c0052t0001 others(2): Show a0001c0048t0001 a0002c0001t0001 a0002c0052t0001 a0003c0003t0002 a0005c0046t0004	a0001c0048t0001g0047 a0002c0001t0001g0061 a0002c0052t0001g0017 others(2): Show a0001c0048t0001g0047 a0002c0001t0001g0061 a0002c0052t0001g0017 a0003c0003t0002g0065 a0005c0046t0004g0053	5	13	0.3846	11	c.115 others(32): Show c.1155-12988_1155-12978dupAAAAAAAAAAA	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	4/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29637709	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18906.hp1 HG03139.hp2 NA18906.hp1	a0003 a0003	a0003c0026 a0003c0034 a0003c0026 a0003c0034	a0003c0026t0002 a0003c0034t0002 a0003c0026t0002 a0003c0034t0002	a0003c0026t0002g0015 a0003c0034t0002g0071 a0003c0026t0002g0015 a0003c0034t0002g0071	2	17	0.1176	11	c.952 others(30): Show c.952+57130_952+57140dupTTTTTTTTTTT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	3/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29831086	G G	GAAGAGGA others(4): Show GAAGAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03453.hp1 HG02895.hp1 HG03453.hp1	a0001 a0004 a0001 a0004	a0001c0039 a0004c0002 a0001c0039 a0004c0002	a0001c0039t0013 a0004c0002t0003 a0001c0039t0013 a0004c0002t0003	a0001c0039t0013g0079 a0004c0002t0003g0058 a0001c0039t0013g0079 a0004c0002t0003g0058	2	78	0.0256	11	c.667 others(30): Show c.667+88906_667+88907insTCCTTCCTCTT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29889760	A A	AGAGAGAG others(4): Show AGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0037 a0001c0004t0001g0037	1	80	0.0125	11	c.667 others(30): Show c.667+30232_667+30233insCTCTCTCTCTC	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALLC_chr2_3653200_3707671	3690424	T T	TCCCCCCT others(4): Show TCCCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0149 a0002c0002t0002g0149	1	173	0.0058	11	c.512 others(28): Show c.512-5293_512-5292insCCCCCCTCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11			chr2	TogoVar
ALLC_chr2_3653200_3707671	3703576	G G	GCCCCGTC others(4): Show GCCCCGTCCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG02145.hp2 HG02257.hp1 others(14): Show HG01123.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02723.hp1 HG02723.hp2 HG03130.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG06807.hp2 NA18522.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0002c0013 others(2): Show a0001c0001 a0002c0002 a0002c0013 a0004c0004 a0005c0007	a0001c0001t0001 a0002c0002t0002 a0002c0013t0002 others(4): Show a0001c0001t0001 a0002c0002t0002 a0002c0013t0002 a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0005c0007t0004	a0001c0001t0001g0125 a0001c0001t0001g0126 a0002c0002t0002g0162 others(14): Show a0001c0001t0001g0125 a0001c0001t0001g0126 a0002c0002t0002g0162 a0002c0002t0002g0210 a0002c0002t0002g0214 a0002c0013t0002g0031 a0004c0004t0001g0035 a0004c0004t0001g0036 a0004c0004t0001g0037 a0004c0004t0001g0045 a0004c0004t0001g0137 a0004c0004t0002g0110 a0004c0004t0003g0223 a0004c0004t0003g0224 a0005c0007t0004g0225 a0005c0007t0004g0226 a0005c0007t0004g0229	17	271	0.0627	11	c.10 others(22): Show c.1013_*1014insCCCCGTCCAGC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding		906		chr2	TogoVar
ALLC_chr2_3653200_3707671	3704586	G G	GGGGCGTG others(4): Show GGGGCGTGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0090 a0001c0001t0005g0090	1	272	0.0037	11	c.20 others(22): Show c.2023_*2024insGGGCGTGGGTC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding		1916		chr2	TogoVar
ALMS1_chr2_73380836_73614916	73391294	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01433.hp2 HG01943.hp1 others(7): Show HG00642.hp2 HG01433.hp2 HG01943.hp1 HG01993.hp1 HG02630.hp1 HG02976.hp1 HG03540.hp2 NA18966.hp1 NA19079.hp1 NA19081.hp1	a0004 a0005 a0004 a0005	a0004c0007 a0005c0005 a0005c0058 a0004c0007 a0005c0005 a0005c0058	a0004c0007t0001 a0005c0005t0001 a0005c0058t0001 a0004c0007t0001 a0005c0005t0001 a0005c0058t0001	a0004c0007t0001g0101 a0005c0005t0001g0108 a0005c0005t0001g0109 others(7): Show a0004c0007t0001g0101 a0005c0005t0001g0108 a0005c0005t0001g0109 a0005c0005t0001g0111 a0005c0005t0001g0112 a0005c0005t0001g0113 a0005c0005t0001g0114 a0005c0005t0001g0115 a0005c0005t0001g0116 a0005c0058t0001g0110	10	124	0.0806	11	c.324 others(28): Show c.324+5109_324+5119dupTTTTTTTTTTT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73404899	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp1 HG03041.hp2 others(1): Show HG02647.hp1 HG02895.hp1 HG03041.hp2 HG06807.hp2	a0001 a0004 a0001 a0004	a0001c0022 a0001c0024 a0004c0008 a0001c0022 a0001c0024 a0004c0008	a0001c0022t0001 a0001c0024t0001 a0004c0008t0001 a0001c0022t0001 a0001c0024t0001 a0004c0008t0001	a0001c0022t0001g0200 a0001c0024t0001g0199 a0004c0008t0001g0233 others(1): Show a0001c0022t0001g0200 a0001c0024t0001g0199 a0004c0008t0001g0233 a0004c0008t0001g0234	4	94	0.0426	11	c.325 others(28): Show c.325-3703_325-3693dupTTTTTTTTTTT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73458033	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0016 a0016	a0016c0046 a0016c0046	a0016c0046t0001 a0016c0046t0001	a0016c0046t0001g0230 a0016c0046t0001g0230	1	42	0.0238	11	c.767 others(30): Show c.7674+2748_7674+2758dupAAAAAAAAAAA	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73517246	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01106.hp2 HG02055.hp1 others(7): Show HG00621.hp2 HG01106.hp2 HG02055.hp1 HG02257.hp2 HG02572.hp1 HG02809.hp1 HG03139.hp2 HG03471.hp1 NA19009.hp2 NA20300.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0020	a0001c0020 a0001c0040 a0003c0002 others(3): Show a0001c0020 a0001c0040 a0003c0002 a0007c0009 a0007c0061 a0020c0075	a0001c0020t0001 a0001c0040t0001 a0003c0002t0001 others(3): Show a0001c0020t0001 a0001c0040t0001 a0003c0002t0001 a0007c0009t0001 a0007c0061t0001 a0020c0075t0001	a0001c0020t0001g0206 a0001c0020t0001g0208 a0001c0040t0001g0207 others(7): Show a0001c0020t0001g0206 a0001c0020t0001g0208 a0001c0040t0001g0207 a0003c0002t0001g0093 a0007c0009t0001g0184 a0007c0009t0001g0185 a0007c0009t0001g0187 a0007c0009t0001g0189 a0007c0061t0001g0183 a0020c0075t0001g0215	10	101	0.0990	11	c.954 others(30): Show c.9540-2522_9540-2512dupTTTTTTTTTTT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73568995	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03195.hp2 HG02965.hp2 HG03195.hp2	a0004 a0004	a0004c0008 a0004c0032 a0004c0008 a0004c0032	a0004c0008t0001 a0004c0032t0001 a0004c0008t0001 a0004c0032t0001	a0004c0008t0001g0235 a0004c0032t0001g0236 a0004c0008t0001g0235 a0004c0032t0001g0236	2	30	0.0667	11	c.103 others(32): Show c.10385-3240_10385-3230dupTTTTTTTTTTT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73579063	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02809.hp1 HG03139.hp2 others(4): Show HG01192.hp1 HG02809.hp1 HG03139.hp2 HG03471.hp1 NA18962.hp1 NA20129.hp2 NA20300.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0020	a0001c0020 a0001c0054 a0003c0002 others(2): Show a0001c0020 a0001c0054 a0003c0002 a0007c0009 a0020c0075	a0001c0020t0001 a0001c0054t0001 a0003c0002t0001 others(2): Show a0001c0020t0001 a0001c0054t0001 a0003c0002t0001 a0007c0009t0001 a0020c0075t0001	a0001c0020t0001g0206 a0001c0020t0001g0208 a0001c0054t0001g0193 others(4): Show a0001c0020t0001g0206 a0001c0020t0001g0208 a0001c0054t0001g0193 a0003c0002t0001g0017 a0007c0009t0001g0175 a0007c0009t0001g0184 a0020c0075t0001g0215	7	102	0.0686	11	c.115 others(32): Show c.11547+5646_11547+5647insTTTTTTTTTTT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73585726	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0029 a0003c0002t0001g0029	1	118	0.0085	11	c.115 others(34): Show c.11547+12307_11547+12317dupTTTTTTTTTTT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALOX12_chr17_6991049_7015754	7006059	C C	CGGGGGGG others(4): Show CGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01993.hp2 HG04204.hp2 HG01943.hp1 HG01993.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0024	3	33	0.0909	11	c.141 others(26): Show c.1418+32_1418+33insGGGGGGGGGGG	ALOX12	ENSG00000108839.12	transcript	ENST00000251535.11	protein_coding	10/13			chr17	TogoVar
ALOX12_chr17_6991049_7015754	7011464	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00735.hp2 others(36): Show HG00544.hp2 HG00558.hp1 HG00735.hp2 HG01071.hp1 HG01099.hp1 HG01123.hp2 HG01192.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01516.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG03831.hp2 NA18948.hp2 NA18964.hp2 NA18965.hp1 NA18970.hp1 NA18979.hp2 NA18981.hp1 NA18986.hp1 NA18992.hp1 NA18995.hp2 NA19005.hp1 NA19060.hp1 NA19064.hp2 NA19082.hp2 NA19083.hp1 NA19085.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0017 a0001c0003 a0002c0017	a0001c0003t0001 a0001c0003t0002 a0002c0017t0001 a0001c0003t0001 a0001c0003t0002 a0002c0017t0001	a0001c0003t0001g0003 a0001c0003t0001g0004 a0001c0003t0001g0020 others(17): Show a0001c0003t0001g0003 a0001c0003t0001g0004 a0001c0003t0001g0020 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0148 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0207 a0001c0003t0002g0020 a0001c0003t0002g0163 a0002c0017t0001g0061	39	284	0.1373	11	c.10 others(22): Show c.1041_*1042insTTTTTTTTTTT	ALOX12	ENSG00000108839.12	transcript	ENST00000251535.11	protein_coding		711		chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8040640	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0223 a0003c0004t0001g0223	1	468	0.0021	11	c.449 others(26): Show c.449+660_449+670dupGAAAGAAAGAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8040652	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01257.hp2 HG01258.hp1 others(11): Show HG00140.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01981.hp2 NA18941.hp1 NA18945.hp2 NA18957.hp1 NA18962.hp2 NA19010.hp1 NA19011.hp2 NA19070.hp2 NA19076.hp2 NA19079.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0005 a0002c0002 a0002c0003 others(1): Show a0001c0005 a0002c0002 a0002c0003 a0014c0024	a0001c0005t0004 a0001c0005t0008 a0001c0005t0014 others(4): Show a0001c0005t0004 a0001c0005t0008 a0001c0005t0014 a0001c0005t0017 a0002c0002t0002 a0002c0003t0001 a0014c0024t0004	a0001c0005t0004g0001 a0001c0005t0008g0001 a0001c0005t0014g0084 others(6): Show a0001c0005t0004g0001 a0001c0005t0008g0001 a0001c0005t0014g0084 a0001c0005t0017g0085 a0002c0002t0002g0002 a0002c0002t0002g0019 a0002c0002t0002g0092 a0002c0003t0001g0016 a0014c0024t0004g0001	14	413	0.0339	11	c.449 others(26): Show c.449+671_449+672insGAAAGAAAGAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8049283	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0018 a0018	a0018c0026 a0018c0026	a0018c0026t0013 a0018c0026t0013	a0018c0026t0013g0096 a0018c0026t0013g0096	1	69	0.0145	11	c.71 others(20): Show c.718_*719insAAAAAAAAAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		150		chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8049283	T T	TAAAAAAA others(4): Show TAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0001 a0001c0005t0004g0001	1	69	0.0145	11	c.71 others(20): Show c.718_*719insAAAAAAAAAAC	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		150		chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8049291	A A	AAAAACAA others(4): Show AAAAACAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0209 a0001c0031t0001g0209	1	468	0.0021	11	c.72 others(20): Show c.726_*727insAAAACAAAAAC	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		158		chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8049298	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02630.hp1 HG02572.hp1 HG02630.hp1	a0001 a0001	a0001c0010 a0001c0046 a0001c0010 a0001c0046	a0001c0010t0001 a0001c0046t0002 a0001c0010t0001 a0001c0046t0002	a0001c0010t0001g0134 a0001c0046t0002g0199 a0001c0010t0001g0134 a0001c0046t0002g0199	2	466	0.0043	11	c.73 others(20): Show c.733_*734insAAAAAAAAAAC	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		165		chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8050306	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01516.hp1 HG01978.hp2 others(8): Show HG00733.hp2 HG01516.hp1 HG01978.hp2 HG02486.hp2 HG03654.hp1 HG03927.hp1 HG04228.hp1 HG04228.hp2 NA18979.hp2 NA19240.hp2 NA20129.hp1	a0001 a0004 a0010 others(1): Show a0001 a0004 a0010 a0016	a0001c0001 a0001c0008 a0001c0010 others(3): Show a0001c0001 a0001c0008 a0001c0010 a0004c0007 a0010c0051 a0016c0037	a0001c0001t0001 a0001c0008t0002 a0001c0008t0010 others(5): Show a0001c0001t0001 a0001c0008t0002 a0001c0008t0010 a0001c0010t0004 a0001c0010t0012 a0004c0007t0003 a0010c0051t0001 a0016c0037t0004	a0001c0001t0001g0006 a0001c0001t0001g0080 a0001c0008t0002g0033 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0080 a0001c0008t0002g0033 a0001c0008t0010g0205 a0001c0010t0004g0018 a0001c0010t0004g0074 a0001c0010t0012g0018 a0004c0007t0003g0145 a0010c0051t0001g0200 a0016c0037t0004g0018	11	36	0.3056	11	c.17 others(22): Show c.1741_*1742insAAAAAAAAAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		1173		chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8052530	C C	CGGGGTGG others(4): Show CGGGGTGGAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	468	0.0021	11	c.39 others(22): Show c.3965_*3966insGGGGTGGAGTG	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		3397		chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8052737	T T	TAGATAGA others(4): Show TAGATAGATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG02257.hp1 HG02258.hp1 others(20): Show HG01361.hp1 HG02257.hp1 HG02258.hp1 HG02486.hp2 HG02683.hp2 HG02809.hp2 HG03130.hp2 HG03453.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03831.hp2 HG03927.hp2 NA18522.hp1 NA18522.hp2 NA18994.hp2 NA19006.hp2 NA19007.hp1 NA19068.hp2 NA19076.hp1 NA19079.hp2 NA19240.hp1 NA19240.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0010 a0018	a0001c0008 a0003c0004 a0003c0028 others(3): Show a0001c0008 a0003c0004 a0003c0028 a0004c0006 a0010c0051 a0018c0026	a0001c0008t0001 a0001c0008t0002 a0001c0008t0010 others(7): Show a0001c0008t0001 a0001c0008t0002 a0001c0008t0010 a0003c0004t0001 a0003c0004t0002 a0003c0004t0005 a0003c0028t0002 a0004c0006t0016 a0010c0051t0001 a0018c0026t0013	a0001c0008t0001g0111 a0001c0008t0002g0033 a0001c0008t0002g0055 others(17): Show a0001c0008t0001g0111 a0001c0008t0002g0033 a0001c0008t0002g0055 a0001c0008t0010g0203 a0003c0004t0001g0130 a0003c0004t0001g0132 a0003c0004t0001g0156 a0003c0004t0001g0170 a0003c0004t0001g0223 a0003c0004t0001g0224 a0003c0004t0001g0228 a0003c0004t0002g0160 a0003c0004t0002g0186 a0003c0004t0002g0229 a0003c0004t0005g0053 a0003c0004t0005g0157 a0003c0028t0002g0121 a0004c0006t0016g0056 a0010c0051t0001g0200 a0018c0026t0013g0096	23	436	0.0528	11	c.41 others(22): Show c.4172_*4173insAGATAGATAGA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		3604		chr17	TogoVar
ALOX5_chr10_45369216_45451117	45376190	T T	TCTTCCCC others(4): Show TCTTCCCCTACC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(64): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00642.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02109.hp2 HG02132.hp2 HG02257.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG03453.hp1 HG03471.hp2 HG03710.hp1 HG03831.hp2 HG04115.hp2 HG04204.hp2 HG04228.hp2 NA18942.hp1 NA18946.hp2 NA18949.hp2 NA18954.hp2 NA18956.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18969.hp1 NA18973.hp1 NA18974.hp2 NA18979.hp1 NA18988.hp1 NA18991.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19062.hp2 NA19070.hp2 NA19076.hp1 NA19085.hp2 NA19090.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0011 a0001c0021 a0001c0022	a0001c0001t0002 a0001c0002t0002 a0001c0002t0006 others(6): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0001c0003t0002 a0001c0008t0002 a0001c0011t0002 a0001c0021t0006 a0001c0022t0002	a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0002t0002g0004 others(59): Show a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0002t0002g0004 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0310 a0001c0002t0002g0312 a0001c0002t0006g0289 a0001c0002t0007g0306 a0001c0002t0007g0307 a0001c0003t0002g0255 a0001c0008t0002g0258 a0001c0008t0002g0259 a0001c0008t0002g0311 a0001c0011t0002g0256 a0001c0011t0002g0257 a0001c0021t0006g0290 a0001c0022t0002g0277	67	344	0.1948	11	c.150 others(28): Show c.150+1762_150+1763insTTCCCCTACCC	ALOX5	ENSG00000012779.12	transcript	ENST00000374391.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ALOXE3_chr17_8090900_8123514	8107961	G G	GAAAGAAA others(4): Show GAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18944.hp1 HG03704.hp1 NA18944.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0002g0065 a0002c0004t0001g0039 a0001c0001t0002g0065 a0002c0004t0001g0039	2	393	0.0051	11	c.168 others(28): Show c.1684+506_1684+507insTTTCTTTCTTT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALPK1_chr4_112292369_112447621	112349551	G G	GCCCCCCC others(4): Show GCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	79	0.0127	11	c.-10 others(32): Show c.-100-28118_-100-28117insCCCCCCCCCCC	ALPK1	ENSG00000073331.18	transcript	ENST00000650871.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
ALPK2_chr18_58476247_58634091	58521625	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03139.hp1 HG03195.hp1 others(1): Show HG02818.hp2 HG03139.hp1 HG03195.hp1 NA19030.hp2	a0001 a0003 a0013 others(1): Show a0001 a0003 a0013 a0016	a0001c0014 a0003c0004 a0013c0036 others(1): Show a0001c0014 a0003c0004 a0013c0036 a0016c0030	a0001c0014t0001 a0003c0004t0011 a0013c0036t0013 others(1): Show a0001c0014t0001 a0003c0004t0011 a0013c0036t0013 a0016c0030t0006	a0001c0014t0001g0249 a0003c0004t0011g0094 a0013c0036t0013g0107 others(1): Show a0001c0014t0001g0249 a0003c0004t0011g0094 a0013c0036t0013g0107 a0016c0030t0006g0081	4	268	0.0149	11	c.566 others(30): Show c.5665+2180_5665+2181insAAAAAAAAAAA	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	8/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58521627	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0002 a0003c0019t0002	a0003c0019t0002g0051 a0003c0019t0002g0051	1	23	0.0435	11	c.566 others(30): Show c.5665+2168_5665+2178dupAAAAAAAAAAA	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	8/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58564123	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00741.hp2 HG01943.hp2 others(5): Show HG00408.hp2 HG00741.hp2 HG01943.hp2 HG02056.hp2 HG02280.hp1 HG02698.hp1 HG04228.hp1 NA19085.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0010 a0016 a0021	a0001c0002 a0002c0001 a0004c0003 others(3): Show a0001c0002 a0002c0001 a0004c0003 a0010c0011 a0016c0030 a0021c0031	a0001c0002t0001 a0002c0001t0002 a0002c0001t0003 others(5): Show a0001c0002t0001 a0002c0001t0002 a0002c0001t0003 a0004c0003t0002 a0010c0011t0003 a0016c0030t0001 a0021c0031t0001 a0021c0031t0004	a0001c0002t0001g0246 a0002c0001t0002g0055 a0002c0001t0003g0204 others(5): Show a0001c0002t0001g0246 a0002c0001t0002g0055 a0002c0001t0003g0204 a0004c0003t0002g0065 a0010c0011t0003g0259 a0016c0030t0001g0242 a0021c0031t0001g0278 a0021c0031t0004g0277	8	32	0.2500	11	c.196 others(32): Show c.1962+14680_1962+14690dupAAAAAAAAAAA	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58601774	A A	AAACCAGC others(4): Show AAACCAGCAGAG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0006 a0002c0016t0006	a0002c0016t0006g0052 a0002c0016t0006g0052	1	318	0.0031	11	c.227 others(28): Show c.227+5537_227+5547dupCTCTGCTGGTT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	3/12			chr18	TogoVar
ALPK3_chr15_84812356_84878479	84833988	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG02145.hp1 others(3): Show HG00558.hp2 HG00597.hp2 HG02145.hp1 HG03041.hp2 NA18984.hp2 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 a0001c0001 a0001c0002 a0002c0008	a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 a0001c0002t0002 a0002c0008t0002	a0001c0001t0001g0201 a0001c0001t0007g0203 a0001c0001t0012g0082 others(3): Show a0001c0001t0001g0201 a0001c0001t0007g0203 a0001c0001t0012g0082 a0001c0002t0002g0199 a0001c0002t0002g0200 a0002c0008t0002g0202	6	331	0.0181	11	c.305 others(28): Show c.305-4992_305-4991insGTGTGTGTGTG	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	3/13			chr15	TogoVar
ALPK3_chr15_84812356_84878479	84838638	T T	TTATTATT others(4): Show TTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG01168.hp2 others(28): Show HG00140.hp1 HG00639.hp1 HG01168.hp2 HG01952.hp1 HG01993.hp1 HG02109.hp1 HG02165.hp1 HG02293.hp1 HG02451.hp2 HG02523.hp1 HG02622.hp1 HG02809.hp2 HG02922.hp1 HG03017.hp2 HG03130.hp1 HG03209.hp1 HG03831.hp1 NA18942.hp2 NA18966.hp2 NA18968.hp2 NA18984.hp2 NA18994.hp1 NA18999.hp1 NA19010.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19079.hp2 NA19086.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0016 a0018	a0001c0001 a0001c0002 a0001c0022 others(4): Show a0001c0001 a0001c0002 a0001c0022 a0002c0006 a0005c0011 a0016c0047 a0018c0036	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0022t0004 a0002c0006t0006 a0005c0011t0010 a0016c0047t0001 a0018c0036t0003	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0029 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0103 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0183 a0001c0001t0001g0201 a0001c0001t0005g0009 a0001c0001t0008g0143 a0001c0001t0009g0084 a0001c0002t0001g0013 a0001c0002t0002g0003 a0001c0002t0002g0036 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0218 a0001c0002t0002g0221 a0001c0022t0004g0097 a0002c0006t0006g0114 a0002c0006t0006g0191 a0005c0011t0010g0027 a0005c0011t0010g0256 a0016c0047t0001g0147 a0018c0036t0003g0153	31	121	0.2562	11	c.305 others(26): Show c.305-341_305-340insATTATTATTAT	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
ALPK3_chr15_84812356_84878479	84850915	C C	CACACACA others(4): Show CACACACACACA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0167 a0001c0001t0005g0167	1	336	0.0030	11	c.165 others(30): Show c.1654-5477_1654-5476insACACACACACA	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	5/13			chr15	TogoVar
ALPP_chr2_232373751_232387889	232385077	G G	GAAGAAGA others(4): Show GAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0009 a0002c0005t0001g0009	1	260	0.0038	11	c.32 others(22): Show c.3282_*3283insAAGAAGAAGAA	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2189		chr2	TogoVar
ALS2_chr2_201695267_201785933	201758760	A A	ATTGTGTG others(4): Show ATTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	26	0.0385	11	c.111 others(30): Show c.1114-1002_1114-1001insCACACACACAA	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	4/33			chr2	TogoVar

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