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
SERINC1_chr6_122438351_122476807	122445883	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01361.hp1 NA18970.hp1 others(2): Show HG01243.hp1 HG01361.hp1 NA18970.hp1 NA18974.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0165 a0001c0001t0001g0178 others(2): Show a0001c0001t0001g0155 a0001c0001t0001g0165 a0001c0001t0001g0178 a0001c0001t0001g0248 a0001c0001t0001g0256	5	119	0.0420	17	c.122 others(34): Show c.1227-721_1227-705dupTTTTTTTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	9/9			chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19078.hp1 HG03486.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0151 a0001c0002t0001g0212 a0001c0001t0001g0151 a0001c0002t0001g0212	2	71	0.0282	17	c.760 others(30): Show c.760-23_760-22insATATATTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp2 HG02698.hp2 others(2): Show HG02109.hp2 HG02559.hp2 HG02698.hp2 HG02922.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0150 a0001c0001t0001g0180 a0001c0001t0001g0016 a0001c0001t0001g0150 a0001c0001t0001g0180	5	74	0.0676	17	c.760 others(30): Show c.760-23_760-22insATATATATTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02155.hp2 NA18942.hp2 others(2): Show HG02004.hp1 HG02155.hp2 NA18942.hp2 NA18968.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0148 a0001c0001t0001g0171 others(1): Show a0001c0001t0001g0036 a0001c0001t0001g0148 a0001c0001t0001g0171 a0001c0001t0001g0210	5	74	0.0676	17	c.760 others(30): Show c.760-23_760-22insATATATATATTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	70	0.0143	17	c.760 others(30): Show c.760-23_760-22insATATATATATATTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC2_chr1_31408213_31439678	31413157	G G	GCGGGGCC others(10): Show GCGGGGCCGGGGCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0030 a0001c0005t0002g0030	1	285	0.0035	17	c.-10 others(26): Show c.-109_-108insCGGGGCCGGGGCGGGGC	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding		55		chr1	TogoVar
SERINC2_chr1_31408213_31439678	31414419	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18522.hp2 HG04115.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0283 a0002c0002t0001g0368 a0002c0002t0001g0283 a0002c0002t0001g0368	2	368	0.0054	17	c.39+ others(32): Show c.39+1115_39+1116insTGTGTGTGTGTGTGTGT	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	1/9			chr1	TogoVar
SERINC2_chr1_31408213_31439678	31414421	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00609.hp2 others(30): Show HG00558.hp1 HG00558.hp2 HG00609.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01943.hp1 HG02027.hp2 HG02129.hp1 HG02300.hp2 HG02970.hp2 HG03491.hp2 NA18522.hp1 NA18939.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp2 NA18961.hp2 NA18966.hp2 NA18981.hp1 NA18983.hp1 NA18990.hp1 NA19004.hp1 NA19004.hp2 NA19012.hp1 NA19057.hp1 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0008c0022	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0002c0002t0001 a0008c0022t0001	a0001c0001t0002g0006 a0001c0001t0002g0287 a0001c0001t0002g0294 others(29): Show a0001c0001t0002g0006 a0001c0001t0002g0287 a0001c0001t0002g0294 a0001c0001t0002g0325 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0004g0279 a0001c0001t0006g0285 a0001c0001t0006g0308 a0001c0001t0006g0315 a0001c0003t0001g0252 a0001c0003t0002g0296 a0001c0003t0004g0249 a0001c0003t0004g0250 a0001c0003t0004g0253 a0001c0003t0004g0256 a0001c0003t0004g0263 a0001c0003t0004g0264 a0001c0003t0004g0268 a0002c0002t0001g0276 a0002c0002t0001g0299 a0002c0002t0001g0301 a0002c0002t0001g0309 a0002c0002t0001g0313 a0002c0002t0001g0317 a0002c0002t0001g0322 a0002c0002t0001g0330 a0002c0002t0001g0336 a0002c0002t0001g0347 a0002c0002t0001g0348 a0002c0002t0001g0360 a0008c0022t0001g0277	33	70	0.4714	17	c.39+ others(32): Show c.39+1117_39+1118insGTGTGTGTGTGTGTGTG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	1/9			chr1	TogoVar
SERINC3_chr20_44492441_44527070	44506584	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02976.hp1 HG02257.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0044 a0001c0001t0006g0044	2	171	0.0117	17	c.783 others(32): Show c.783+226_783+242dupTTTTTTTTTTTTTTTTT	SERINC3	ENSG00000132824.14	transcript	ENST00000342374.5	protein_coding	6/9			chr20	TogoVar
SERINC4_chr15_43789162_43805220	43802569	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 NA18943.hp2 NA18967.hp1 others(1): Show HG01361.hp1 NA18943.hp2 NA18967.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0002 a0002c0002t0001g0009 a0001c0001t0001g0002 a0002c0002t0001g0009	4	224	0.0179	17	c.-26 others(28): Show c.-2600_-2584dupTTTTTTTTTTTTTTTTT	SERINC4	ENSG00000184716.14	transcript	ENST00000319327.7	protein_coding		2350		chr15	TogoVar
SERINC5_chr5_80133727_80261048	80147379	G G	GCCCTGAA others(10): Show GCCCTGAATTGCCCGTAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01496.hp1 HG01884.hp1 others(28): Show HG01167.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG02109.hp1 HG02145.hp2 HG02451.hp2 HG02572.hp2 HG02622.hp1 HG02818.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp1 HG06807.hp2 NA18522.hp2 NA19030.hp2 NA19240.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0009 others(1): Show a0001c0001 a0001c0006 a0001c0009 a0002c0005	a0001c0001t0008 a0001c0001t0010 a0001c0001t0020 others(17): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0020 a0001c0001t0022 a0001c0001t0035 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0049 a0001c0001t0050 a0001c0001t0053 a0001c0001t0054 a0001c0006t0020 a0001c0009t0037 a0002c0005t0019	a0001c0001t0008g0124 a0001c0001t0008g0129 a0001c0001t0008g0222 others(28): Show a0001c0001t0008g0124 a0001c0001t0008g0129 a0001c0001t0008g0222 a0001c0001t0008g0240 a0001c0001t0008g0241 a0001c0001t0008g0259 a0001c0001t0008g0268 a0001c0001t0010g0062 a0001c0001t0010g0228 a0001c0001t0010g0235 a0001c0001t0010g0266 a0001c0001t0020g0056 a0001c0001t0022g0260 a0001c0001t0022g0261 a0001c0001t0035g0060 a0001c0001t0038g0254 a0001c0001t0039g0262 a0001c0001t0040g0111 a0001c0001t0041g0264 a0001c0001t0042g0066 a0001c0001t0043g0279 a0001c0001t0044g0065 a0001c0001t0046g0149 a0001c0001t0049g0242 a0001c0001t0050g0265 a0001c0001t0053g0061 a0001c0001t0054g0253 a0001c0006t0020g0127 a0001c0009t0037g0231 a0002c0005t0019g0042 a0002c0005t0019g0273	31	284	0.1092	17	c.105 others(32): Show c.1054-96_1054-95insATACGGGCAATTCAGGG	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	9/11			chr5	TogoVar
SERINC5_chr5_80133727_80261048	80213245	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA20129.hp2 HG03490.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0039 a0001c0001t0029 a0001c0001t0039	a0001c0001t0029g0159 a0001c0001t0039g0262 a0001c0001t0029g0159 a0001c0001t0039g0262	2	75	0.0267	17	c.28- others(34): Show c.28-10193_28-10192insTTTTTTTTTTTTTTTTT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	1/11			chr5	TogoVar
SERPINA5_chr14_94576426_94598118	94591615	T T	TATTCTAT others(10): Show TATTCTATTCTCTATCTC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0229 a0002c0002t0001g0229	1	461	0.0022	17	c.103 others(34): Show c.1039-442_1039-441insATTCTATTCTCTATCTC	SERPINA5	ENSG00000188488.14	transcript	ENST00000329597.12	protein_coding	5/5			chr14	TogoVar
SERPINB5_chr18_63471958_63510085	63484741	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	131	0.0076	17	c.168 others(32): Show c.168+151_168+167dupTTTTTTTTTTTTTTTTT	SERPINB5	ENSG00000206075.14	transcript	ENST00000382771.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB7_chr18_63770418_63810370	63786014	C C	CATATATA others(10): Show CATATATATAATATATGT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02965.hp1 HG02970.hp2 others(5): Show HG02723.hp2 HG02965.hp1 HG02970.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 NA18522.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0011 a0001c0001t0013 others(2): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0003t0019	a0001c0001t0003g0073 a0001c0001t0003g0110 a0001c0001t0003g0157 others(5): Show a0001c0001t0003g0073 a0001c0001t0003g0110 a0001c0001t0003g0157 a0001c0001t0003g0216 a0001c0001t0011g0156 a0001c0001t0013g0111 a0001c0001t0015g0234 a0001c0003t0019g0198	8	430	0.0186	17	c.168 others(34): Show c.168+3481_168+3482insTAATATATGTATATATA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPIND1_chr22_20769113_20792720	20780775	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01175.hp2 HG03139.hp1 others(1): Show HG01109.hp1 HG01175.hp2 HG03139.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0028 a0001c0001t0001g0060 a0001c0001t0001g0065 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0004g0028	4	174	0.0230	17	c.889 others(32): Show c.889+590_889+591insAAAAAAAAAAAAAAAAA	SERPIND1	ENSG00000099937.11	transcript	ENST00000215727.10	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
SERPINF1_chr17_1757060_1782565	1766567	T T	TAAAATAT others(10): Show TAAAATATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp1 HG03098.hp2 others(2): Show HG02559.hp1 HG02615.hp1 HG03098.hp2 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0221 others(2): Show a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0221 a0001c0001t0001g0227 a0001c0001t0001g0228	5	68	0.0735	17	c.-8- others(30): Show c.-8-335_-8-334insAAATATAAATAAATAAA	SERPINF1	ENSG00000132386.11	transcript	ENST00000254722.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERPINI1_chr3_167730721_167830569	167793596	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0156 a0002c0002t0001g0156	1	107	0.0093	17	c.676 others(32): Show c.676+813_676+814insATATATATTTTTTTTTT	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SERPINI2_chr3_167436933_167479042	167470550	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	88	0.0114	17	c.247 others(34): Show c.247+1021_247+1037dupAAAAAAAAAAAAAAAAA	SERPINI2	ENSG00000114204.16	transcript	ENST00000264677.9	protein_coding	2/8			chr3	TogoVar
SESN3_chr11_95160513_95236202	95186242	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0049 a0001c0001t0016g0049	1	390	0.0026	17	c.526 others(32): Show c.526-751_526-750insACACACACACACACACA	SESN3	ENSG00000149212.12	transcript	ENST00000536441.7	protein_coding	4/9			chr11	TogoVar
SETBP1_chr18_44675888_45073510	44679873	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	30	0.0333	17	c.-13 others(28): Show c.-1321_-1320insAAAAAAAAAAAAAAAAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding		1014		chr18	TogoVar
SETBP1_chr18_44675888_45073510	44787860	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00735.hp2 others(20): Show HG00099.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp2 HG01167.hp2 HG01175.hp2 HG01255.hp1 HG01258.hp1 HG02004.hp2 HG02080.hp2 HG02165.hp2 HG02630.hp1 HG02922.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG04199.hp1 NA18953.hp2 NA18963.hp1 NA18964.hp1 NA18981.hp2 NA19000.hp1 NA19083.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0001 a0001c0005 a0001c0010 others(5): Show a0001c0001 a0001c0005 a0001c0010 a0002c0002 a0003c0003 a0004c0004 a0006c0007 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0005t0002 a0001c0005t0020 a0001c0010t0007 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0011 a0004c0004t0001 a0004c0004t0002 a0006c0007t0023 a0007c0008t0002	a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0049 others(20): Show a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0049 a0001c0001t0001g0067 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0122 a0001c0001t0002g0010 a0001c0001t0003g0037 a0001c0001t0003g0057 a0001c0001t0005g0082 a0001c0005t0002g0031 a0001c0005t0020g0071 a0001c0010t0007g0058 a0002c0002t0001g0020 a0003c0003t0001g0063 a0003c0003t0001g0109 a0003c0003t0002g0014 a0003c0003t0011g0064 a0004c0004t0001g0088 a0004c0004t0002g0081 a0006c0007t0023g0062 a0007c0008t0002g0083	23	28	0.8214	17	c.487 others(36): Show c.487-81366_487-81350dupAAAAAAAAAAAAAAAAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETD1B_chr12_121799009_121837656	121799725	G G	GGGGGGGT others(10): Show GGGGGGGTGGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0111 a0001c0001t0011g0111	1	255	0.0039	17	c.-45 others(28): Show c.-4523_-4522insGGGGGGTGGGGGGGGGT	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		4283		chr12	TogoVar
SETD1B_chr12_121799009_121837656	121799727	G G	GGGGGGGG others(10): Show GGGGGGGGTGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	157	0.0064	17	c.-45 others(28): Show c.-4521_-4520insGGGGGGGTGGGGGGGGT	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		4281		chr12	TogoVar
SETD1B_chr12_121799009_121837656	121799727	G G	GGGGGGGT others(10): Show GGGGGGGTGGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	157	0.0064	17	c.-45 others(28): Show c.-4521_-4520insGGGGGGTGGGGGGGGGT	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		4281		chr12	TogoVar
SETD2_chr3_47011436_47169113	47036905	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0293 a0001c0006t0001g0293	1	110	0.0091	17	c.735 others(34): Show c.7350+760_7350+761insTTTTTTTTTTTTTTTTT	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	18/20			chr3	TogoVar
SETD2_chr3_47011436_47169113	47044344	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0262 a0001c0005t0004g0262	1	21	0.0476	17	c.709 others(36): Show c.7099-1661_7099-1645dupTTTTTTTTTTTTTTTTT	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	16/20			chr3	TogoVar
SETD2_chr3_47011436_47169113	47056094	T T	TTTTTATT others(10): Show TTTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0210 a0002c0001t0001g0210	1	171	0.0058	17	c.696 others(34): Show c.6963+726_6963+727insTAAATAAATAAATAAAA	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	15/20			chr3	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	25	0.0400	17	c.676 others(34): Show c.676-9671_676-9655dupTTTTTTTTTTTTTTTTT	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SETD5_chr3_9392615_9483154	9406607	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01978.hp2 HG02622.hp1 others(2): Show HG01192.hp2 HG01978.hp2 HG02622.hp1 HG03098.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0022 a0001c0001t0044 a0001c0001t0003 a0001c0001t0022 a0001c0001t0044	a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0216 others(2): Show a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0216 a0001c0001t0022g0225 a0001c0001t0044g0178	5	156	0.0321	17	c.-17 others(36): Show c.-177+8644_-177+8645insAAAAAAAAAAAAAAAAA	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
SETD5_chr3_9392615_9483154	9426212	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0084 a0001c0001t0005g0084	1	16	0.0625	17	c.-11 others(36): Show c.-117+1686_-117+1687insTTTTTTTTTTTTTTTTT	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	2/22			chr3	TogoVar
SETD5_chr3_9392615_9483154	9445962	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01255.hp1 HG01517.hp1 others(5): Show HG01070.hp1 HG01255.hp1 HG01517.hp1 HG01884.hp1 HG01943.hp2 HG02809.hp1 HG02922.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0018 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0018 a0001c0001t0022	a0001c0001t0003g0213 a0001c0001t0003g0224 a0001c0001t0003g0226 others(5): Show a0001c0001t0003g0213 a0001c0001t0003g0224 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0005g0168 a0001c0001t0018g0167 a0001c0001t0018g0169 a0001c0001t0022g0229	8	211	0.0379	17	c.152 others(34): Show c.1524+224_1524+225insTTTTTTTTTTTTTTTTT	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
SETDB1_chr1_150921363_150969737	150931261	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02896.hp1 HG02897.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0014t0001g0025 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0014t0001g0025	3	123	0.0244	17	c.412 others(34): Show c.412+1147_412+1163dupAAAAAAAAAAAAAAAAA	SETDB1	ENSG00000143379.13	transcript	ENST00000692827.1	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
SETDB2_chr13_49439274_49500003	49442787	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0031 a0003c0004t0031	a0003c0004t0031g0199 a0003c0004t0031g0199	1	62	0.0161	17	c.-24 others(28): Show c.-2412_-2411insAAAAAAAAAAAAAAAAA	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding		1486		chr13	TogoVar
SETDB2_chr13_49439274_49500003	49471935	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0020 a0003c0004t0020	a0003c0004t0020g0194 a0003c0004t0020g0194	1	220	0.0045	17	c.305 others(34): Show c.305+3975_305+3976insATATATATATATATATA	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding	5/13			chr13	TogoVar
SEZ6L_chr22_26164462_26388596	26348592	G G	GAAAGAAA others(10): Show GAAAGAAAGAAAGAGAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0186 a0002c0002t0004g0186	1	238	0.0042	17	c.240 others(34): Show c.2407+692_2407+693insGAAAAAAGAAAGAAAGA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348646	A A	AAGAAAGA others(10): Show AAGAAAGAAAGAAGAAAG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03492.hp1 HG03239.hp1 HG03492.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0019 a0001c0001 a0007c0019	a0001c0001t0025 a0007c0019t0003 a0001c0001t0025 a0007c0019t0003	a0001c0001t0025g0237 a0007c0019t0003g0080 a0001c0001t0025g0237 a0007c0019t0003g0080	2	71	0.0282	17	c.240 others(34): Show c.2407+734_2407+735insGAAAGAAAGAAGAAAGA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348647	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0180 a0002c0005t0004g0180	1	233	0.0043	17	c.240 others(34): Show c.2407+734_2407+735insGAAAGAAAGAAAGAAAG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16			chr22	TogoVar
SF3A3_chr1_37951975_37995022	37983586	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00558.hp1 others(44): Show HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00735.hp1 HG00735.hp2 HG01074.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01433.hp2 HG01975.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02132.hp1 HG02257.hp2 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02723.hp2 HG02818.hp1 HG03471.hp1 HG03471.hp2 HG04204.hp2 HG06807.hp2 NA18747.hp2 NA18939.hp1 NA18944.hp1 NA18959.hp1 NA18960.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp2 NA18977.hp1 NA18986.hp1 NA19055.hp2 NA19062.hp1 NA19078.hp2 NA19086.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0031 a0001c0002t0034	a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0044 others(42): Show a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0002g0167 a0001c0001t0003g0010 a0001c0001t0003g0219 a0001c0001t0003g0332 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0336 a0001c0001t0003g0337 a0001c0001t0003g0338 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0341 a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0001t0003g0345 a0001c0001t0003g0353 a0001c0001t0012g0335 a0001c0001t0038g0028 a0001c0001t0040g0370 a0001c0001t0041g0342 a0001c0002t0001g0255 a0001c0002t0002g0007 a0001c0002t0002g0016 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0164 a0001c0002t0002g0206 a0001c0002t0002g0253 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0004g0254 a0001c0002t0004g0258 a0001c0002t0004g0297 a0001c0002t0031g0263 a0001c0002t0034g0259	47	48	0.9792	17	c.468 others(32): Show c.468+566_468+582dupTTTTTTTTTTTTTTTTT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	6/16			chr1	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02145.hp2 HG03710.hp2 others(2): Show HG02004.hp2 HG02145.hp2 HG03710.hp2 NA19030.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0016 a0001c0001t0001g0157 a0001c0001t0001g0218 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0157 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0002t0002g0127	5	16	0.3125	17	c.495 others(32): Show c.495+258_495+274dupTTTTTTTTTTTTTTTTT	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SF3B3_chr16_70518816_70582668	70532357	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00673.hp2 others(15): Show HG00423.hp1 HG00558.hp2 HG00673.hp2 HG02015.hp1 HG02040.hp1 HG02083.hp1 HG02132.hp2 HG03654.hp1 NA18612.hp2 NA18941.hp2 NA18945.hp1 NA18970.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19066.hp2 NA19070.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 a0001c0001t0064 a0001c0006t0009	a0001c0001t0002g0007 a0001c0001t0002g0072 a0001c0001t0002g0089 others(14): Show a0001c0001t0002g0007 a0001c0001t0002g0072 a0001c0001t0002g0089 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0009g0007 a0001c0001t0009g0020 a0001c0001t0009g0082 a0001c0001t0009g0092 a0001c0001t0009g0093 a0001c0001t0012g0065 a0001c0001t0012g0096 a0001c0001t0012g0097 a0001c0001t0012g0099 a0001c0001t0012g0132 a0001c0001t0064g0094 a0001c0006t0009g0007	18	115	0.1565	17	c.571 others(32): Show c.571-112_571-111insAAAAAAAAAAAAAAAAA	SF3B3	ENSG00000189091.13	transcript	ENST00000302516.10	protein_coding	4/25		INFO_REALIGN_3_PRIME	chr16	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0118 a0002c0002t0001g0118	1	77	0.0130	17	c.124 others(36): Show c.1249-1638_1249-1637insATATATATATATATATT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0123 a0002c0002t0001g0123	1	77	0.0130	17	c.124 others(36): Show c.1249-1638_1249-1637insATATATATATATTTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0120	1	77	0.0130	17	c.124 others(36): Show c.1249-1638_1249-1637insATATATATATTTTTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582237	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0007 a0010c0010t0001g0007	1	299	0.0033	17	c.124 others(36): Show c.1249-1638_1249-1637insATATATATATATATATA	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32			chr22	TogoVar
SFI1_chr22_31491536_31623588	31590979	A A	ATTTATTT others(10): Show ATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0006 a0006	a0006c0038 a0006c0038	a0006c0038t0001 a0006c0038t0001	a0006c0038t0001g0038 a0006c0038t0001g0038	1	308	0.0032	17	c.154 others(36): Show c.1544+1405_1544+1406insATTTATTTATTTATTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31598716	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18998.hp2 HG02486.hp1 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0167 a0002c0002t0001g0001 a0002c0002t0001g0167	2	8	0.2500	17	c.154 others(36): Show c.1545-3489_1545-3473dupTTTTTTTTTTTTTTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31612390	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03688.hp2 NA19011.hp2 HG02040.hp1 HG03688.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0074 a0002c0002t0001g0078 a0002c0002t0001g0033 a0002c0002t0001g0074 a0002c0002t0001g0078	3	305	0.0098	17	c.249 others(34): Show c.2490+550_2490+551insTATATATATATATATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32			chr22	TogoVar
SFI1_chr22_31491536_31623588	31612392	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18946.hp1 NA18998.hp1 others(1): Show HG02165.hp2 NA18946.hp1 NA18998.hp1 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0087 a0002c0002t0001g0099 others(1): Show a0002c0002t0001g0034 a0002c0002t0001g0087 a0002c0002t0001g0099 a0002c0002t0001g0121	4	285	0.0140	17	c.249 others(34): Show c.2490+552_2490+553insTATATATATATATATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32			chr22	TogoVar
SFI1_chr22_31491536_31623588	31612394	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18995.hp1 HG04199.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0076 a0002c0002t0001g0103 a0002c0002t0001g0076 a0002c0002t0001g0103	2	262	0.0076	17	c.249 others(34): Show c.2490+554_2490+555insTATATATATATATATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32			chr22	TogoVar

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