JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SENP7_chr3_101319205_101518212	101410845	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00639.hp1 others(23): Show HG00423.hp1 HG00558.hp2 HG00639.hp1 HG00738.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01257.hp2 HG01516.hp2 HG02074.hp1 HG02080.hp1 HG02486.hp2 HG02615.hp2 HG02735.hp1 HG03195.hp1 NA18522.hp1 NA18941.hp2 NA18954.hp1 NA18975.hp2 NA19002.hp2 NA19010.hp1 NA19030.hp2 NA19054.hp1 NA19055.hp1 NA19062.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0003 a0003c0004 others(1): Show a0001c0001 a0001c0003 a0003c0004 a0008c0015	a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 a0001c0003t0007 a0001c0003t0010 a0003c0004t0002 a0008c0015t0001	a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0207 others(23): Show a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0207 a0001c0001t0001g0216 a0001c0001t0001g0239 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0268 a0001c0001t0001g0275 a0001c0001t0001g0289 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0308 a0001c0001t0001g0337 a0001c0001t0001g0347 a0001c0001t0004g0302 a0001c0001t0004g0305 a0001c0003t0002g0021 a0001c0003t0007g0001 a0001c0003t0010g0022 a0003c0004t0002g0098 a0003c0004t0002g0100 a0008c0015t0001g0316	26	370	0.0703	30	c.482 others(47): Show c.482+6718_482+6747dupATTTTATTTTATTTTATTTTATTTTATT TT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	5/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101463380	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03654.hp1 HG03139.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0247 a0001c0001t0001g0215 a0001c0001t0001g0247	2	370	0.0054	30	c.187 others(47): Show c.187-4329_187-4328insGTATATATATATATATATATATATATAT AT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101463402	T T	TATATATA others(23): Show TATATATACATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	370	0.0027	30	c.187 others(47): Show c.187-4351_187-4350insGTGTATATATATATATATATATGTATAT AT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23			chr3	TogoVar
SEPSECS_chr4_25115014_25165449	25145479	G G	GTTTACAA others(23): Show GTTTACAACCTGCTTTCACACATAAATCATT	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0299 a0002c0002t0003g0299	1	456	0.0022	30	c.805 others(45): Show c.805-376_805-347dupAATGATTTATGTGTGAAAGCAGGTTGTAAA	SEPSECS	ENSG00000109618.13	transcript	ENST00000382103.7	protein_coding	6/10			chr4	TogoVar
SEPTIN10_chr2_109537799_109618966	109604383	A A	AAGGGGAG others(23): Show AAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0230 a0001c0001t0004g0230	1	404	0.0025	30	c.30+ others(45): Show c.30+9414_30+9415insCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT	SEPTIN10	ENSG00000186522.15	transcript	ENST00000397712.7	protein_coding	1/10			chr2	TogoVar
SEPTIN10_chr2_109537799_109618966	109604383	A A	AAGGGGAG others(23): Show AAGGGGAGGGGAGGGGAGGGGCGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0016 a0001c0001t0006g0016	1	404	0.0025	30	c.30+ others(45): Show c.30+9414_30+9415insCCCCTCCCCGCCCCTCCCCTCCCCTCCCCT	SEPTIN10	ENSG00000186522.15	transcript	ENST00000397712.7	protein_coding	1/10			chr2	TogoVar
SEPTIN11_chr4_76944752_77043615	77016615	C C	CATATATA others(23): Show CATATATATATATATACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	370	0.0027	30	c.687 others(47): Show c.687+1610_687+1639dupTATACACATATATATATATATATATATA TA	SEPTIN11	ENSG00000138758.12	transcript	ENST00000264893.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEPTIN11_chr4_76944752_77043615	77016629	T T	TATACACA others(23): Show TATACACATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18522.hp1 HG03130.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0092 a0001c0001t0014g0093 a0001c0001t0014g0092 a0001c0001t0014g0093	2	370	0.0054	30	c.687 others(47): Show c.687+1613_687+1614insTACACATATATATATATATATATATATA CA	SEPTIN11	ENSG00000138758.12	transcript	ENST00000264893.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEPTIN14_chr7_55788540_55867752	55830349	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0103 a0001c0001t0027g0103	1	390	0.0026	30	c.720 others(47): Show c.720+4075_720+4076insAAAAAAAAAAAATATATATATATATATA TA	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	6/9			chr7	TogoVar
SEPTIN14_chr7_55788540_55867752	55846065	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	390	0.0026	30	c.175 others(45): Show c.175+451_175+452insTATATATATATATATATATATATATATATA	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	3/9			chr7	TogoVar
SEPTIN2_chr2_241310925_241359027	241338702	T T	TTTATATT others(23): Show TTTATATTATTTATATAATATATTATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01515.hp1 HG01074.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	2	408	0.0049	30	c.594 others(45): Show c.594+928_594+957dupAATATATTATATATATTATATTATTTATAT	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SEPTIN2_chr2_241310925_241359027	241338771	T T	TATATATA others(23): Show TATATATATTTATATTATTTATATATAATAC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	408	0.0025	30	c.594 others(45): Show c.594+985_594+986insATATTTATATTATTTATATATAATACATAT	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SEPTIN9_chr17_77276499_77505593	77484890	T T	TGGTGGTG others(23): Show TGGTGGTGATGTGGGTGGTGGTGGTGATGTG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0101 a0001c0001t0009g0101	1	150	0.0067	30	c.914 others(47): Show c.914-2527_914-2526insATGTGGGTGGTGGTGGTGATGTGGGTGG TG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484890	T T	TGGTGGTG others(23): Show TGGTGGTGATGTGGGTGGTGGTGGTGATGTG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0063 a0001c0001t0006g0063	1	158	0.0063	30	c.860 others(47): Show c.860-2527_860-2526insATGTGGGTGGTGGTGGTGATGTGGGTGG TG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0048 a0001c0003t0048	a0001c0003t0048g0237 a0001c0003t0048g0237	1	368	0.0027	30	c.92 others(41): Show c.9279_*9280insATATATATATTTTTTTTTTTTTTTTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0206 a0001c0001t0046g0206	1	368	0.0027	30	c.92 others(41): Show c.9279_*9280insATATATATATATTTTTTTTTTTTTTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0021 a0001c0001t0011g0021	1	368	0.0027	30	c.92 others(41): Show c.9279_*9280insATATATATATATATATTTTTTTTTTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0225 a0001c0001t0061g0225	1	368	0.0027	30	c.92 others(41): Show c.9279_*9280insATATATATATATATATATATATATTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0167 a0001c0001t0060g0167	1	368	0.0027	30	c.92 others(41): Show c.9279_*9280insATATATATATATATATATATATATATTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERGEF_chr11_17783048_18018047	17896853	T T	TAAGGGAA others(23): Show TAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	1	226	0.0044	30	c.101 others(51): Show c.1012-18639_1012-18610dupCCCTTCCCTTCCCTTCCCTTCCCT TCCCTT	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10			chr11	TogoVar
SERHL2_chr22_42548956_42579382	42559229	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0325 a0002c0002t0002g0325	1	432	0.0023	30	c.533 others(45): Show c.533+799_533+800insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SERHL2	ENSG00000183569.18	transcript	ENST00000327678.10	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAATATATATATTATAT	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	366	0.0027	30	c.760 others(43): Show c.760-23_760-22insATATAATATATATATTTTTTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	366	0.0027	30	c.760 others(43): Show c.760-23_760-22insATATATATATATATATTTTTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02602.hp2 NA18944.hp1 others(3): Show HG02040.hp2 HG02602.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0018 a0001c0001t0002g0054 a0001c0001t0002g0064 others(2): Show a0001c0001t0002g0018 a0001c0001t0002g0054 a0001c0001t0002g0064 a0001c0001t0002g0082 a0001c0001t0016g0065	6	366	0.0164	30	c.760 others(43): Show c.760-23_760-22insATATATATATATATATATTTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	366	0.0027	30	c.760 others(43): Show c.760-23_760-22insATATATATATATATATATATTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAATATA others(23): Show AAAATATACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03516.hp2 HG02622.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0138 a0001c0001t0007g0141 a0001c0001t0007g0138 a0001c0001t0007g0141	2	366	0.0055	30	c.760 others(43): Show c.760-23_760-22insATATATATATATATATATATATGTATATTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC2_chr1_31408213_31439678	31414454	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0233 a0001c0004t0010g0233	1	376	0.0027	30	c.39+ others(45): Show c.39+1151_39+1152insTGTGTGTGTGTGTGTGTGTGTGTGTGAGAG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC5_chr5_80133727_80261048	80181414	T T	TATTGTGT others(23): Show TATTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01978.hp1 HG02135.hp2 others(7): Show HG01099.hp1 HG01978.hp1 HG02135.hp2 HG02155.hp1 NA18948.hp2 NA18952.hp1 NA18969.hp1 NA18969.hp2 NA18990.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0002t0003 a0001c0002t0017	a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0002g0024 others(7): Show a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0002g0024 a0001c0001t0002g0197 a0001c0001t0002g0248 a0001c0001t0002g0252 a0001c0001t0014g0086 a0001c0002t0003g0032 a0001c0002t0003g0192 a0001c0002t0017g0075	10	286	0.0350	30	c.196 others(47): Show c.196-3351_196-3350insCACACACACACACACACACACACACACA AT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	2/11			chr5	TogoVar
SERP2_chr13_44368824_44402714	44388541	A A	AGAGCCTG others(23): Show AGAGCCTGTGAGGTTTATCAGGCACCATCCG	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	354	0.0028	30	c.158 others(47): Show c.158-8730_158-8701dupGAGCCTGTGAGGTTTATCAGGCACCATC CG	SERP2	ENSG00000151778.11	transcript	ENST00000379179.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr13	TogoVar
SERPINA11_chr14_94437464_94457800	94449509	T T	TTCTTTTT others(23): Show TTCTTTTTCTTTCTTTCTTTCTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19043.hp2 HG02922.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0201 a0001c0001t0001g0202	2	452	0.0044	30	c.-3- others(43): Show c.-3-733_-3-732insGAAAAAGAAAGAAAGAAAGAAAGAAAAAGA	SERPINA11	ENSG00000186910.4	transcript	ENST00000334708.4	protein_coding	1/4			chr14	TogoVar
SERPINA11_chr14_94437464_94457800	94452598	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0071	1	452	0.0022	30	c.-4+ others(43): Show c.-4+101_-4+130dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SERPINA11	ENSG00000186910.4	transcript	ENST00000334708.4	protein_coding	1/4			chr14	TogoVar
SERPINA5_chr14_94576426_94598118	94591549	G G	GTTCTATT others(23): Show GTTCTATTCTATTCTATTCTATTCTATTCTA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG01070.hp2 others(12): Show HG00438.hp1 HG00673.hp2 HG01070.hp2 HG01081.hp1 HG02056.hp1 HG02258.hp1 HG02615.hp1 HG03453.hp1 HG03688.hp2 HG03704.hp1 NA18954.hp2 NA18968.hp1 NA19004.hp1 NA19012.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0002c0003 others(2): Show a0001c0001 a0001c0007 a0002c0003 a0003c0002 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0007t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0006 a0002c0003t0003 a0002c0003t0006 a0003c0002t0001 a0003c0002t0012 a0003c0008t0024	a0001c0001t0001g0178 a0001c0001t0001g0189 a0001c0001t0001g0198 others(8): Show a0001c0001t0001g0178 a0001c0001t0001g0189 a0001c0001t0001g0198 a0001c0001t0002g0020 a0001c0001t0002g0115 a0001c0007t0006g0100 a0002c0003t0003g0025 a0002c0003t0006g0110 a0003c0002t0001g0231 a0003c0002t0012g0257 a0003c0008t0024g0274	15	464	0.0323	30	c.103 others(47): Show c.1039-473_1039-444dupATTCTATTCTATTCTATTCTATTCTATT CT	SERPINA5	ENSG00000188488.14	transcript	ENST00000329597.12	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
SERPINB11_chr18_63697960_63728893	63709616	T T	TAAATAAA others(23): Show TAAATAAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01109.hp1 HG01358.hp1 others(28): Show HG00673.hp2 HG01109.hp1 HG01358.hp1 HG01361.hp2 HG01934.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02273.hp2 HG02523.hp1 HG02523.hp2 HG02738.hp1 HG03098.hp1 HG03942.hp2 NA18612.hp2 NA18747.hp1 NA18950.hp1 NA18951.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18972.hp1 NA18985.hp1 NA18988.hp1 NA18999.hp1 NA19004.hp1 NA19057.hp2 NA19060.hp2 NA19066.hp1 NA19068.hp1 NA19072.hp1	a0002 a0003 a0009 a0002 a0003 a0009	a0002c0001 a0003c0003 a0009c0018 a0002c0001 a0003c0003 a0009c0018	a0002c0001t0001 a0003c0003t0001 a0009c0018t0002 a0002c0001t0001 a0003c0003t0001 a0009c0018t0002	a0002c0001t0001g0012 a0002c0001t0001g0049 a0002c0001t0001g0072 others(8): Show a0002c0001t0001g0012 a0002c0001t0001g0049 a0002c0001t0001g0072 a0002c0001t0001g0073 a0002c0001t0001g0074 a0002c0001t0001g0075 a0003c0003t0001g0004 a0003c0003t0001g0034 a0003c0003t0001g0084 a0009c0018t0002g0004 a0009c0018t0002g0085	31	422	0.0735	30	c.-15 others(45): Show c.-15-559_-15-530dupTAAAATAAAATAAAATAAAATAAAATAAAA	SERPINB11	ENSG00000206072.13	transcript	ENST00000544088.6	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB12_chr18_63537369_63574329	63559040	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00621.hp1 others(26): Show HG00408.hp1 HG00558.hp2 HG00621.hp1 HG00639.hp2 HG01168.hp2 HG01975.hp2 HG02056.hp1 HG02074.hp2 HG02135.hp2 HG02698.hp1 HG03017.hp1 HG03130.hp1 HG04115.hp1 HG04204.hp2 NA18612.hp1 NA18944.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18966.hp1 NA18970.hp2 NA18998.hp2 NA19002.hp2 NA19054.hp2 NA19064.hp2 NA19066.hp2 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0054 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0054 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0220 a0001c0001t0025g0023	29	402	0.0721	30	c.304 others(45): Show c.304-519_304-518insTTCTTTCTTTCTCTTTCTTTCTTTCTTTCT	SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB13_chr18_63582343_63604192	63589705	A A	AAAAAGAG others(23): Show AAAAAGAGGTGGTAAGAATAAAGGCTGAAGG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0007 a0006c0010t0002g0007	1	440	0.0023	30	c.225 others(42): Show c.225+2_225+31dupTAAGAATAAAGGCTGAAGGAAAAGAGGTGG	SERPINB13	ENSG00000197641.12	transcript	ENST00000344731.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB4_chr18_63632259_63649256	63648886	A A	ACCCCCCC others(23): Show ACCCCCCCCCCCCCCCCCCCCCCCCCACCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	424	0.0024	30	c.-47 others(41): Show c.-4705_-4704insGGGGTGGGGGGGGGGGGGGGGGGGGGGGGG	SERPINB4	ENSG00000206073.11	transcript	ENST00000341074.10	protein_coding		4631		chr18	TogoVar
SERPINB9_chr6_2882270_2908309	2900885	T T	TCTCTCAC others(23): Show TCTCTCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02647.hp1 HG01891.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0120 a0001c0001t0106 a0001c0001t0120	a0001c0001t0106g0296 a0001c0001t0120g0295 a0001c0001t0106g0296 a0001c0001t0120g0295	2	462	0.0043	30	c.-10 others(45): Show c.-10-265_-10-264insTGTGTGTGTGTGTGTGTGTGTGTGTGAGAG	SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding	1/6			chr6	TogoVar
SERPINE1_chr7_101122104_101144247	101136454	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0054 a0001c0001t0011g0054	1	436	0.0023	30	c.108 others(47): Show c.1088-536_1088-535insAAGAAAGAAAGAAAGAAAGAGAAAGAAA GA	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERPINE2_chr2_223970045_224044286	224005065	T T	TTATATAT others(23): Show TTATATATTTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp2 NA18950.hp1 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0263 a0001c0002t0002g0292 a0001c0002t0002g0263 a0001c0002t0002g0292	2	374	0.0054	30	c.-22 others(47): Show c.-22-3144_-22-3143insTATATATATATATATATATATAAATATA TA	SERPINE2	ENSG00000135919.14	transcript	ENST00000409304.6	protein_coding	1/8			chr2	TogoVar
SERPINI1_chr3_167730721_167830569	167759400	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02258.hp2 HG03130.hp2 others(3): Show HG02132.hp1 HG02258.hp2 HG03130.hp2 HG03490.hp2 NA18747.hp1 NA19010.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0004c0005t0001 a0001c0001t0001 a0002c0002t0001 a0004c0005t0001	a0001c0001t0001g0109 a0001c0001t0001g0120 a0001c0001t0001g0227 others(3): Show a0001c0001t0001g0109 a0001c0001t0001g0120 a0001c0001t0001g0227 a0002c0002t0001g0062 a0002c0002t0001g0063 a0004c0005t0001g0030	6	232	0.0259	30	c.-19 others(49): Show c.-19+23598_-19+23599insATATATATATATATATATATATATAT ATAT	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SERTM1_chr13_36669020_36702839	36678679	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18982.hp1 HG03471.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0088 a0001c0001t0002g0061 a0001c0001t0002g0088	2	438	0.0046	30	c.-17 others(49): Show c.-174+4511_-174+4512insTATATATATATATATATATATATATA TATA	SERTM1	ENSG00000180440.4	transcript	ENST00000315190.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
SERTM1_chr13_36669020_36702839	36697306	C C	CATAAATA others(23): Show CATAAATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0098 a0001c0001t0049g0098	1	438	0.0023	30	c.19 others(41): Show c.1905_*1906insTAAATATATATATATATATATATATATATA	SERTM1	ENSG00000180440.4	transcript	ENST00000315190.4	protein_coding	2/2	1906	INFO_REALIGN_3_PRIME	chr13	TogoVar
SESN1_chr6_108979309_109099846	109064589	A A	AGAGGGGA others(23): Show AGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01175.hp1 HG01952.hp1 HG00280.hp2 HG01175.hp1 HG01952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0027 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0027 a0002c0002t0002g0032 a0002c0002t0002g0033	3	184	0.0163	30	c.279 others(49): Show c.279+29176_279+29205dupCCCTCCCCTCCCCTCCCCTCCCCTCC CCTC	SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding	1/9			chr6	TogoVar
SESN3_chr11_95160513_95236202	95186194	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03195.hp2 HG00558.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0046 a0001c0001t0008 a0001c0002t0046	a0001c0001t0008g0203 a0001c0002t0046g0073 a0001c0001t0008g0203 a0001c0002t0046g0073	2	392	0.0051	30	c.526 others(45): Show c.526-732_526-703dupCACACACACACACACACACACACACACACA	SESN3	ENSG00000149212.12	transcript	ENST00000536441.7	protein_coding	4/9			chr11	TogoVar
SESTD1_chr2_179096678_179269832	179229774	T T	TATATATA others(23): Show TATATATATATATATATATATACTCAAATAC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0190 a0001c0001t0003g0190	1	274	0.0037	30	c.-26 others(49): Show c.-26+34724_-26+34725insGTATTTGAGTATATATATATATATAT ATAT	SESTD1	ENSG00000187231.14	transcript	ENST00000428443.8	protein_coding	1/17			chr2	TogoVar
SETBP1_chr18_44675888_45073510	44885842	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	140	0.0071	30	c.540 others(49): Show c.540+16573_540+16574insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETD1B_chr12_121799009_121837656	121834987	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0005 a0005	a0005c0036 a0005c0036	a0005c0036t0001 a0005c0036t0001	a0005c0036t0001g0008 a0005c0036t0001g0008	1	262	0.0038	30	c.47 others(41): Show c.4748_*4749insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		2332		chr12	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG03139.hp2 NA18961.hp2 others(2): Show HG01169.hp2 HG03139.hp2 NA18961.hp2 NA18995.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0106 a0001c0001t0001g0113 others(2): Show a0001c0001t0001g0022 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0122	5	290	0.0172	30	c.676 others(47): Show c.676-9655_676-9654insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SETD7_chr4_139501038_139561219	139544290	C C	CTAAAATA others(23): Show CTAAAATAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02293.hp2 HG00140.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0220 a0001c0001t0001g0147 a0001c0001t0001g0220	2	316	0.0063	30	c.170 others(47): Show c.170+2600_170+2629dupTTTTATTTTATTTTATTTTATTTTATTT TA	SETD7	ENSG00000145391.14	transcript	ENST00000274031.8	protein_coding	2/7			chr4	TogoVar
SEZ6L_chr22_26164462_26388596	26348632	G G	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0159 a0005c0011t0001g0159	1	240	0.0042	30	c.240 others(47): Show c.2407+734_2407+735insGAAAGAAAGAAAGAAAAAGAAAGAAAGA AA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar

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