Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SCNN1D_chr1_1275436_1297025	1289225	C C	CCCCGTGT others(29): Show CCCCGTGTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0081 a0002c0003t0002g0081	1	290	0.0035	36	c.166 others(55): Show c.1663-1037_1663-1036insGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCT		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289225	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG06807.hp2 HG01433.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0245 a0001c0001t0011g0267 a0001c0001t0001g0245 a0001c0001t0011g0267	2	290	0.0069	36	c.166 others(55): Show c.1663-1045_1663-1044insGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289263	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0117 a0002c0003t0004g0117	1	290	0.0035	36	c.166 others(55): Show c.1663-1007_1663-1006insGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289313	C C	CCCGTCCC others(29): Show CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0001 a0001c0047t0001	a0001c0047t0001g0183 a0001c0047t0001g0183	1	290	0.0035	36	c.166 others(53): Show c.1663-946_1663-945insTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289357	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	290	0.0035	36	c.166 others(53): Show c.1663-913_1663-912insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289395	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0060 a0002c0003t0001g0060	1	290	0.0035	36	c.166 others(53): Show c.1663-875_1663-874insGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289395	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0211 a0001c0009t0001g0211	1	290	0.0035	36	c.166 others(53): Show c.1663-875_1663-874insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289433	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	290	0.0035	36	c.166 others(53): Show c.1663-837_1663-836insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289451	T T	TCCCGTGT others(29): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0055	1	290	0.0035	36	c.166 others(53): Show c.1663-807_1663-806insTCCGTCCCGTGTCTGCTCCGTCCCCCGT GTCTCTGC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289465	C C	CCCGTCCC others(29): Show CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0015 a0015	a0015c0037 a0015c0037	a0015c0037t0001 a0015c0037t0001	a0015c0037t0001g0090 a0015c0037t0001g0090	1	290	0.0035	36	c.166 others(53): Show c.1663-799_1663-798insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289471	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0029	1	290	0.0035	36	c.166 others(53): Show c.1663-799_1663-798insGTGTCTCTGCTCCATTCCCCGTGTCTCT GCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289671	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0155 a0003c0004t0003g0155	1	290	0.0035	36	c.166 others(53): Show c.1663-599_1663-598insGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCCCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289671	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0281 a0005c0016t0001g0281	1	290	0.0035	36	c.166 others(53): Show c.1663-599_1663-598insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289727	C C	CCGTGTCC others(29): Show CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0054 a0002c0003t0001g0054	1	290	0.0035	36	c.166 others(53): Show c.1663-543_1663-542insGTGTCCCTGCTCCGTCCCCCGTGTCTCT GCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289785	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	290	0.0035	36	c.166 others(53): Show c.1663-485_1663-484insGTGTCTCTGCTCCATTCCCCGTGTCTCT GCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289794	C C	CCTGCTCC others(29): Show CCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0083 a0002c0003t0002g0083	1	290	0.0035	36	c.166 others(53): Show c.1663-447_1663-446insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289928	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	290	0.0035	36	c.166 others(53): Show c.1663-342_1663-341insGTGTCTCTGCTCCATTCCCCGTGTCTCT GCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289936	C C	CTGCTCCG others(29): Show CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	290	0.0035	36	c.166 others(53): Show c.1663-334_1663-333insGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGT		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289966	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0251 a0001c0018t0001g0251	1	290	0.0035	36	c.166 others(53): Show c.1663-304_1663-303insGTGTCTCTGCTCCATTCCCCGTGTCTCT GCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289972	G G	GTCTGCTC others(29): Show GTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0102	1	290	0.0035	36	c.166 others(53): Show c.1663-281_1663-280insTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290122	T T	TCCGTCCC others(29): Show TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0108 a0002c0002t0001g0108	1	290	0.0035	36	c.166 others(53): Show c.1663-142_1663-141insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290128	C C	CCCCGAGT others(29): Show CCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0112 a0002c0003t0001g0112	1	290	0.0035	36	c.166 others(53): Show c.1663-139_1663-138insAGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCG		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290128	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0172 a0003c0004t0003g0172	1	290	0.0035	36	c.166 others(53): Show c.1663-142_1663-141insGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290128	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0088 a0002c0002t0001g0088	1	290	0.0035	36	c.166 others(53): Show c.1663-142_1663-141insGTGTCTCTGCTCCATTCCCCGTGTCTCT GCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290128	C C	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0013 a0013	a0013c0042 a0013c0042	a0013c0042t0001 a0013c0042t0001	a0013c0042t0001g0129 a0013c0042t0001g0129	1	290	0.0035	36	c.166 others(53): Show c.1663-142_1663-141insGTGTCTCTGCTCCGTCCCCCGAGTCTCT GCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290158	G G	GCTCCGTC others(29): Show GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	290	0.0035	36	c.166 others(51): Show c.1663-99_1663-98insTCTGCTCCGTCCCGTGTCCCTACTCCGTCC CGTGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1G_chr16_23177745_23221883	23204300	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0286 a0001c0002t0003g0286	1	320	0.0031	36	c.107 others(55): Show c.1078-5415_1078-5414insCATATATATATATATATATATATATA TATATATATA		SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204334	T T	TACATATA others(29): Show TACATATATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0282 a0001c0002t0003g0282	1	320	0.0031	36	c.107 others(55): Show c.1078-5415_1078-5414insCATATATATATATATATATATATATA GAGAGAGAGA		SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204334	T T	TACATATA others(29): Show TACATATATATATATATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0173 a0001c0003t0002g0173	1	320	0.0031	36	c.107 others(55): Show c.1078-5415_1078-5414insCATATATATATATATATATATATATA TATATAGAGA		SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCOC_chr4_140368646_140390728	140389203	T T	TTAAAAAA others(29): Show TTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	36	c.80 others(47): Show c.8099_*8100insTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		SCOC	ENSG00000153130.18	transcript	ENST00000608372.6	protein_coding					3476		chr4	TogoVar
SCUBE1_chr22_43192280_43348372	43192592	G G	GTATATAT others(29): Show GTATATATATATATACGTATATATATATATATGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0044 a0003c0007t0044	a0003c0007t0044g0210 a0003c0007t0044g0210	1	280	0.0036	36	c.11 others(49): Show c.11404_*11405insTATACATATATATATATATACGTATATATATA TATA		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding					4687		chr22	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp1 HG01243.hp2 HG02258.hp1	a0003 a0003	a0003c0003 a0003c0025 a0003c0003 a0003c0025	a0003c0003t0005 a0003c0025t0010 a0003c0003t0005 a0003c0025t0010	a0003c0003t0005g0200 a0003c0025t0010g0143 a0003c0003t0005g0200 a0003c0025t0010g0143	2	358	0.0056	36	c.120 others(53): Show c.1208-967_1208-966insAAAAAAAAAATATATATATATATATATA TATATATA		SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22						chr11	TogoVar
SCYGR2_chr2_227593893_227604255	227599009	T T	TGGTGGTG others(29): Show TGGTGGTGGCTGCGGTGGTGGCTGCGGTGGTGGCTGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01884.hp2 HG02572.hp2 HG02615.hp2 HG01884.hp2 HG02572.hp2 HG02615.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0000 a0009c0012t0000	a0009c0012t0000g0000 a0009c0012t0000g0000	3	469	0.0064	36	c.152 others(43): Show c.152_153insCGGTGGTGGCTGCGGTGGTGGCTGCGGTGGTGGCTG	p.Cys others(47): Show p.Cys51_Gly52insGlyGlyGlyCysGlyGlyGlyCysGlyGlyGlyC ys	SCYGR2	ENSG00000284643.1	transcript	ENST00000641394.1	protein_coding	1/1	153/363	153/363	51/120		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCYGR8_chr2_227740894_227751220	227749841	A A	ATCCTTCC others(29): Show ATCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp2 others(64): Show HG00099.hp1 HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp2 HG01074.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01516.hp2 HG01517.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG03453.hp2 HG03486.hp2 HG03654.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18948.hp2 NA18951.hp2 NA18953.hp2 NA18954.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18991.hp2 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19057.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19072.hp1 NA19085.hp2 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005	a0001c0001t0000 a0002c0002t0000 a0003c0003t0000 others(2): Show a0001c0001t0000 a0002c0002t0000 a0003c0003t0000 a0004c0004t0000 a0005c0005t0000	a0001c0001t0000g0000 a0002c0002t0000g0000 a0003c0003t0000g0000 others(2): Show a0001c0001t0000g0000 a0002c0002t0000g0000 a0003c0003t0000g0000 a0004c0004t0000g0000 a0005c0005t0000g0000	67	457	0.1466	36	c.36 others(47): Show c.3621_*3622insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CT		SCYGR8	ENSG00000284635.2	transcript	ENST00000641981.2	protein_coding					3622		chr2	TogoVar
SCYL1_chr11_65520083_65543704	65540703	C C	CGGGCGGG others(29): Show CGGGCGGGGCCTACAGGAGGGGCGGGGCCTACAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01243.hp1 HG01978.hp1 others(3): Show HG00609.hp1 HG01243.hp1 HG01978.hp1 HG03225.hp2 NA18970.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0070 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0070 a0001c0001t0001g0082	6	278	0.0216	36	c.21 others(47): Show c.2137_*2138insGGGCGGGGCCTACAGGAGGGGCGGGGCCTACAGG AG		SCYL1	ENSG00000142186.18	transcript	ENST00000270176.10	protein_coding					2000		chr11	TogoVar
SCYL3_chr1_169844631_169898896	169851045	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0309 a0001c0001t0085g0309	1	418	0.0024	36	c.26 others(47): Show c.2667_*2668insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13				2667		chr1	TogoVar
SDC2_chr8_96488813_96616790	96565084	A A	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG06807.hp1 NA19091.hp1 HG03239.hp2 HG06807.hp1 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0003 a0001c0003t0002 a0003c0004t0001 a0001c0001t0003 a0001c0003t0002 a0003c0004t0001	a0001c0001t0003g0191 a0001c0003t0002g0090 a0003c0004t0001g0178 a0001c0001t0003g0191 a0001c0003t0002g0090 a0003c0004t0001g0178	3	334	0.0090	36	c.61- others(53): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT		SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02976.hp1 HG03490.hp2 others(6): Show HG02145.hp2 HG02976.hp1 HG03490.hp2 HG04184.hp1 NA18949.hp2 NA19030.hp2 NA19064.hp1 NA19068.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0001g0053 a0001c0001t0001g0123 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0053 a0001c0001t0001g0123 a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0042 a0001c0001t0002g0119	9	398	0.0226	36	c.-19 others(47): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding					1923		chr17	TogoVar
SDF4_chr1_1211931_1237001	1212605	C C	CCAGCCCC others(29): Show CCAGCCCCTCCCAGCCCCTGGCCCCTCTGCCCCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(52): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00558.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG01074.hp1 HG01106.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01934.hp2 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02523.hp2 HG02615.hp1 HG02717.hp1 HG02965.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18960.hp2 NA18966.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18995.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp2 NA19012.hp1 NA19030.hp2 NA19062.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0004 others(3): Show a0001c0001 a0001c0007 a0002c0004 a0002c0005 a0002c0006 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0007t0001 a0002c0004t0005 a0002c0004t0022 a0002c0005t0005 a0002c0006t0007 a0002c0011t0005	a0001c0001t0001g0007 a0001c0001t0001g0074 a0001c0001t0001g0077 others(40): Show a0001c0001t0001g0007 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0104 a0001c0001t0002g0010 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0047 a0001c0001t0002g0051 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0093 a0001c0001t0002g0155 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0187 a0001c0001t0002g0222 a0001c0001t0002g0232 a0001c0001t0003g0188 a0001c0001t0007g0098 a0001c0001t0011g0129 a0001c0007t0001g0231 a0002c0004t0005g0066 a0002c0004t0005g0067 a0002c0004t0022g0062 a0002c0005t0005g0091 a0002c0006t0007g0094 a0002c0011t0005g0089	55	400	0.1375	36	c.49 others(47): Show c.4906_*4907insTGAGGGGGCAGAGGGGCCAGGGGCTGGGAGGGGC TG		SDF4	ENSG00000078808.20	transcript	ENST00000360001.12	protein_coding					4325		chr1	TogoVar
SDHAF3_chr7_97112698_97186763	97144882	A A	AGATTGCT others(29): Show AGATTGCTTTTGGCAGTATGGTCATTTTCACAATATT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03098.hp1 HG02723.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0249 a0001c0002t0005g0250 a0001c0002t0005g0249 a0001c0002t0005g0250	2	402	0.0050	36	c.174 others(55): Show c.174+26989_174+27024dupTGCTTTTGGCAGTATGGTCATTTTCA CAATATTGAT		SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDHAF3_chr7_97112698_97186763	97183901	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0260 a0001c0002t0001g0260	1	402	0.0025	36	c.26 others(47): Show c.2686_*2687insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding					2139		chr7	TogoVar
SDHA_chr5_213320_262082	259357	T T	TGTGAGCT others(29): Show TGTGAGCTCCGCCTCCCGACAGAGCATTACCGTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	266	0.0038	36	c.29 others(47): Show c.2937_*2938insGTGAGCTCCGCCTCCCGACAGAGCATTACCGTGT GA		SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding					2276		chr5	TogoVar
SDHC_chr1_161309381_161368206	161309552	A A	ATATATAT others(29): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	330	0.0030	36	c.-48 others(47): Show c.-4854_-4853insTATATATATATATATATATTTTTTTTTTTTTTTT TT		SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding					4828		chr1	TogoVar
SDHC_chr1_161309381_161368206	161339662	G G	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	330	0.0030	36	c.180 others(51): Show c.180-904_180-903insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT		SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3391966	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02630.hp1 HG01109.hp2 HG02630.hp1	a0015 a0029 a0015 a0029	a0015c0085 a0029c0063 a0015c0085 a0029c0063	a0015c0085t0043 a0029c0063t0007 a0015c0085t0043 a0029c0063t0007	a0015c0085t0043g0010 a0029c0063t0007g0106 a0015c0085t0043g0010 a0029c0063t0007g0106	2	116	0.0172	36	c.298 others(55): Show c.298+90104_298+90105insATATATATATATATATATATATATAT ATATATATAT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3723914	A A	ACACGTGT others(29): Show ACACGTGTATATACACGTACATATACATATACACGTG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0004 a0004	a0004c0056 a0004c0056	a0004c0056t0006 a0004c0056t0006	a0004c0056t0006g0098 a0004c0056t0006g0098	1	116	0.0086	36	c.713 others(55): Show c.713+81809_713+81810insCACGTGTATATACACGTACATATACA TATACACGTG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44						chr7	TogoVar
SDR42E2_chr16_22157506_22196751	22173903	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0166 a0002c0002t0001g0166	1	356	0.0028	36	c.589 others(53): Show c.589+1573_589+1574insATATATATATATATATATATATATATAT ATATATAT		SDR42E2	ENSG00000183921.8	transcript	ENST00000602312.3	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SEC13_chr3_10295931_10326112	10303447	G G	GACCTTGG others(29): Show GACCTTGGCCACTTTTAACTGCACAGTCCAGTTGTGT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	380	0.0026	36	c.855 others(51): Show c.855+543_855+578dupACACAACTGGACTGTGCAGTTAAAAGTGGC CAAGGT		SEC13	ENSG00000157020.18	transcript	ENST00000350697.8	protein_coding	8/8						chr3	TogoVar
SEC24B_chr4_109428815_109545896	109482979	T T	TATATACA others(29): Show TATATACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0098 a0001c0002t0015g0098	1	222	0.0045	36	c.116 others(55): Show c.1165+1199_1165+1200insTATACACACACACACACACACACACA CACACACACA		SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23					INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24B_chr4_109428815_109545896	109482979	T T	TATATATA others(29): Show TATATATATATACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0107 a0001c0002t0004g0107	1	222	0.0045	36	c.116 others(55): Show c.1165+1199_1165+1200insTATATATATACACACACACACACACA CACACACACA		SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	4/23					INFO_REALIGN_3_PRIME	chr4	TogoVar

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