Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC7A10_chr19_33203664_33230850	33230784	TCTGCTCT others(30): Show TCTGCTCTCTGCTTTTACTTATTCTGCCCTTTATCCAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	410	0.0024	-37	c.-51 others(48): Show c.-5118_-5082delTTGGATAAAGGGCAGAATAAGTAAAAGCAGAGAG CAG	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding		4935		chr19	TogoVar
SLC7A1_chr13_29504414_29600688	29558947	AGTGAGGC others(30): Show AGTGAGGCAGAGTGAATCTGAATGAGGGGGGAGTGAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00621.hp2 others(23): Show HG00140.hp2 HG00408.hp1 HG00621.hp2 HG01106.hp1 HG01169.hp2 HG01256.hp1 HG01346.hp1 HG01928.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02300.hp2 HG03017.hp2 HG03669.hp2 NA18940.hp1 NA18948.hp2 NA18969.hp1 NA18990.hp1 NA19012.hp2 NA19054.hp2 NA19064.hp2 NA19065.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0009 a0001c0002t0019 a0001c0002t0034 a0001c0002t0039 a0001c0002t0043	a0001c0001t0001g0148 a0001c0002t0001g0162 a0001c0002t0002g0084 others(23): Show a0001c0001t0001g0148 a0001c0002t0001g0162 a0001c0002t0002g0084 a0001c0002t0002g0111 a0001c0002t0002g0155 a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0298 a0001c0002t0004g0137 a0001c0002t0004g0139 a0001c0002t0004g0182 a0001c0002t0004g0314 a0001c0002t0007g0001 a0001c0002t0007g0032 a0001c0002t0007g0033 a0001c0002t0007g0034 a0001c0002t0009g0157 a0001c0002t0009g0197 a0001c0002t0019g0017 a0001c0002t0034g0061 a0001c0002t0039g0288 a0001c0002t0043g0156	26	330	0.0788	-37	c.-11 others(56): Show c.-114-5124_-114-5088delATTCACTCCCCCCTCATTCAGATTCA CTCTGCCTCAC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558972	GGGGGGAG others(30): Show GGGGGGAGTGAATGTGAGGGGGGAGAGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	330	0.0030	-37	c.-11 others(56): Show c.-114-5149_-114-5113delTCACTCACATTCTCTCCCCCCTCACA TTCACTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC9A3_chr5_465456_529449	495379	TCCCCGCG others(30): Show TCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	218	0.0046	-37	c.212 others(54): Show c.212-3345_212-3309delGGAGTGGAGCGTGGGGAGGGTCGGCGAT GGCGCGGGG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A7_chrX_46594251_46764118	46738072	AAAGAAAG others(30): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0209 a0001c0002t0045g0209	1	250	0.0040	-37	c.325 others(56): Show c.325+20596_325+20632delCTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTT	SLC9A7	ENSG00000065923.10	transcript	ENST00000616978.5	protein_coding	1/16			chrX	TogoVar
SLC9B1_chr4_102895928_103024705	103021833	AAACTTTG others(30): Show AAACTTTGCTAATATGCCAGCCTCCCACACTAGTTGTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	318	0.0031	-37	c.-22 others(48): Show c.-2273_-2237delAACAACTAGTGTGGGAGGCTGGCATATTAGCAAA GTT	SLC9B1	ENSG00000164037.17	transcript	ENST00000296422.12	protein_coding		2129		chr4	TogoVar
SLCO2A1_chr3_133927701_134034925	134034386	TTTATATC others(30): Show TTTATATCCCCCATTTGACCTAACATATCCCATTGCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	342	0.0029	-37	c.-46 others(48): Show c.-4621_-4585delGAGCAATGGGATATGTTAGGTCAAATGGGGGATA TAA	SLCO2A1	ENSG00000174640.15	transcript	ENST00000310926.11	protein_coding		4462		chr3	TogoVar
SLCO3A1_chr15_91848708_92170903	92016217	ATAGATAG others(30): Show ATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 NA18612.hp2 others(1): Show HG01069.hp2 HG01071.hp1 NA18612.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0004 a0001c0004t0004 a0001c0001t0003 a0001c0001t0004 a0001c0004t0004	a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0004g0086 others(1): Show a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0004g0086 a0001c0004t0004g0042	4	190	0.0211	-37	c.647 others(56): Show c.647-78634_647-78598delAGATAGATTAGATAGATAGATAGATA GATAGATAGAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO6A1_chr5_102366774_102504001	102406105	AAGCAGCT others(30): Show AAGCAGCTAGATCTAAACTCAGCCATACTGATAACTCT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01175.hp1 HG01106.hp2 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0039 a0001c0001t0002g0040	2	342	0.0059	-37	c.162 others(56): Show c.1627-6400_1627-6364delAGAGTTATCAGTATGGCTGAGTTTAG ATCTAGCTGCT	SLCO6A1	ENSG00000205359.10	transcript	ENST00000506729.6	protein_coding	9/13			chr5	TogoVar
SLF1_chr5_94613669_94702621	94643725	GGGGTTAT others(30): Show GGGGTTATTTTTCCTTTGGAAAAGAGAGCTATTTCTAA	G G	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	364	0.0028	-37	c.594 others(52): Show c.594+296_594+332delATTTTTCCTTTGGAAAAGAGAGCTATTTCT AAGGGTT	SLF1	ENSG00000133302.13	transcript	ENST00000265140.10	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLFN12L_chr17_35459254_35542678	35530418	GAAGGAAG others(30): Show GAAGGAAGGAAGGGAAGGGAAGGGAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0138 a0001c0002t0138	a0001c0002t0138g0051 a0001c0002t0138g0051	1	360	0.0028	-37	c.-60 others(56): Show c.-606+7118_-606+7154delTTTCTTTCTTTCTTCCCTTCCCTTCC CTTCCTTCCTT	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	1/4			chr17	TogoVar
SLFN12L_chr17_35459254_35542678	35539335	AGAAAGAA others(30): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0078 a0003c0014t0078	a0003c0014t0078g0040 a0003c0014t0078g0040	1	360	0.0028	-37	c.-24 others(48): Show c.-2405_-2369delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding		1658		chr17	TogoVar
SLFN14_chr17_35538985_35565819	35539335	AGAAAGAA others(30): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0002 a0002c0016t0002	a0002c0016t0002g0048 a0002c0016t0002g0048	1	428	0.0023	-37	c.88 others(48): Show c.8867_*8903delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		4649		chr17	TogoVar
SLIT2_chr4_20246905_20625561	20460670	CCCTCTAC others(30): Show CCCTCTACTTCTATGAGATCAGGTAGGCACCATTTTAA	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	230	0.0044	-37	c.396 others(54): Show c.396-7061_396-7025delGGTAGGCACCATTTTAACCTCTACTTCT ATGAGATCA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLITRK6_chr13_85787790_85804419	85799797	GCACTAAC others(30): Show GCACTAACTAGATTGTAAAATGTTAACACGAACTGCTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	-37	c.-94 others(46): Show c.-945_-909delAAGCAGTTCGTGTTAACATTTTACAATCTAGTTAGT G	SLITRK6	ENSG00000184564.11	transcript	ENST00000647374.2	protein_coding		379		chr13	TogoVar
SLX1B_chr16_29449533_29463219	29450771	TATATATA others(30): Show TATATATATTTTTTTTTTTTTAAATGTATAAATACATC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	174	0.0058	-37	c.-39 others(48): Show c.-3971_-3935delATATATATTTTTTTTTTTTTAAATGTATAAATAC ATC	SLX1B	ENSG00000181625.18	transcript	ENST00000330181.10	protein_coding		3761		chr16	TogoVar
SMAD2_chr18_47803957_47935659	47850775	GTATAATA others(30): Show GTATAATATATATTATATATTATATATATTATGTATAA	G G	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0134 a0001c0001t0134	a0001c0001t0134g0041 a0001c0001t0134g0041	1	310	0.0032	-37	c.784 others(52): Show c.784+462_784+498delTTATACATAATATATATAATATATAATATA TATTATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD3_chr15_67060602_67200169	67076706	CCATCTAG others(30): Show CCATCTAGAGCAAGCACTTCCTTTTTCCAGATCATGCT	C C	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	310	0.0032	-37	c.206 others(56): Show c.206+10349_206+10385delTCTAGAGCAAGCACTTCCTTTTTCCA GATCATGCTCA	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMCO1_chr3_196501879_196520346	196511146	TTGCCTGA others(30): Show TTGCCTGAGCCACCTAGATTGTCCTTATGAGGGAAACC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01934.hp2 HG01975.hp1 others(19): Show HG01884.hp1 HG01934.hp2 HG01975.hp1 HG02280.hp1 HG02451.hp1 HG02572.hp1 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 NA18522.hp1 NA19043.hp1 NA20129.hp1	a0003 a0006 a0003 a0006	a0003c0003 a0006c0006 a0003c0003 a0006c0006	a0003c0003t0003 a0006c0006t0003 a0003c0003t0003 a0006c0006t0003	a0003c0003t0003g0007 a0003c0003t0003g0058 a0003c0003t0003g0166 others(10): Show a0003c0003t0003g0007 a0003c0003t0003g0058 a0003c0003t0003g0166 a0003c0003t0003g0167 a0003c0003t0003g0168 a0003c0003t0003g0169 a0003c0003t0003g0170 a0003c0003t0003g0171 a0003c0003t0003g0172 a0003c0003t0003g0173 a0006c0006t0003g0026 a0006c0006t0003g0027 a0006c0006t0003g0060	22	398	0.0553	-37	c.51- others(52): Show c.51-1514_51-1478delGGTTTCCCTCATAAGGACAATCTAGGTGGC TCAGGCA	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding	1/2			chr3	TogoVar
SMCO1_chr3_196501879_196520346	196511354	GTTATGAG others(30): Show GTTATGAGGGAAACCTGCCTGGGCCACCTAGATTGTCC	G G	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	398	0.0025	-37	c.51- others(52): Show c.51-1722_51-1686delGGACAATCTAGGTGGCCCAGGCAGGTTTCC CTCATAA	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding	1/2			chr3	TogoVar
SMCO1_chr3_196501879_196520346	196511425	GTCCTTAT others(30): Show GTCCTTATGAGGGAAACCTGCCTGAGCCACCTAGATTC	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18906.hp2 HG02615.hp1 NA18906.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0120 a0004c0004t0006g0121 a0004c0004t0006g0120 a0004c0004t0006g0121	2	398	0.0050	-37	c.51- others(52): Show c.51-1793_51-1757delGAATCTAGGTGGCTCAGGCAGGTTTCCCTC ATAAGGA	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding	1/2			chr3	TogoVar
SMCO1_chr3_196501879_196520346	196511428	CTTATGAG others(30): Show CTTATGAGGGAAACCTGCCTGAGCCACCTAGATTCTCA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02451.hp2 HG01255.hp2 HG02451.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0056 a0004c0004t0003g0059 a0004c0004t0003g0056 a0004c0004t0003g0059	2	398	0.0050	-37	c.51- others(52): Show c.51-1796_51-1760delTGAGAATCTAGGTGGCTCAGGCAGGTTTCC CTCATAA	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding	1/2			chr3	TogoVar
SMCO1_chr3_196501879_196520346	196511465	ATTATGAG others(30): Show ATTATGAGGGAAACCTGCCTGGGCCACCTAGATTGTCC	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02647.hp1 HG02015.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0099 a0001c0001t0002g0061 a0001c0001t0001g0099 a0001c0001t0002g0061	2	398	0.0050	-37	c.51- others(52): Show c.51-1833_51-1797delGGACAATCTAGGTGGCCCAGGCAGGTTTCC CTCATAA	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding	1/2			chr3	TogoVar
SMCO1_chr3_196501879_196520346	196511601	ACCTAGAT others(30): Show ACCTAGATTGTCCTTATGAGGGAAACCTGCCTGGGCCG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG04228.hp1 HG02602.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0101 a0001c0001t0001g0102	2	398	0.0050	-37	c.51- others(52): Show c.51-1969_51-1933delCGGCCCAGGCAGGTTTCCCTCATAAGGACA ATCTAGG	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding	1/2			chr3	TogoVar
SMCO1_chr3_196501879_196520346	196511797	CGTTATGA others(30): Show CGTTATGAGGGAAACCTGCCTGGGCCGCCTAGATTGTT	C C	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	398	0.0025	-37	c.51- others(52): Show c.51-2165_51-2129delAACAATCTAGGCGGCCCAGGCAGGTTTCCC TCATAAC	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding	1/2			chr3	TogoVar
SMCO1_chr3_196501879_196520346	196511871	CTTTATGA others(30): Show CTTTATGAGGGAAACTTGCCTGCGCCAAGTAGATTGTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02451.hp2 HG02622.hp1 others(4): Show HG01255.hp2 HG02451.hp2 HG02622.hp1 HG02723.hp1 HG03516.hp1 HG03516.hp2 NA18522.hp1	a0004 a0006 a0004 a0006	a0004c0004 a0006c0006 a0004c0004 a0006c0006	a0004c0004t0003 a0006c0006t0003 a0004c0004t0003 a0006c0006t0003	a0004c0004t0003g0056 a0004c0004t0003g0059 a0006c0006t0003g0026 others(2): Show a0004c0004t0003g0056 a0004c0004t0003g0059 a0006c0006t0003g0026 a0006c0006t0003g0027 a0006c0006t0003g0060	7	398	0.0176	-37	c.51- others(52): Show c.51-2239_51-2203delAACAATCTACTTGGCGCAGGCAAGTTTCCC TCATAAA	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding	1/2			chr3	TogoVar
SMIM42_chr1_158122287_158133301	158129615	CTGTTTTC others(30): Show CTGTTTTCAAGTTCATGGATTCTTTCTTCTGTCCCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	406	0.0025	-37	c.-15 others(48): Show c.-1578_-1542delAAGGGGACAGAAGAAAGAATCCATGAACTTGAAA ACA	SMIM42	ENSG00000288460.1	transcript	ENST00000672824.1	protein_coding		1315		chr1	TogoVar
SMPD3_chr16_68353327_68453508	68375284	CCTCCACC others(30): Show CCTCCACCAGCTTTTCCCTCATCCACCCCCACCCTGGG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp1 HG00741.hp1 others(47): Show HG00639.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01106.hp2 HG01192.hp2 HG01261.hp1 HG01346.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02132.hp1 HG02486.hp1 HG02572.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp2 HG03942.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18994.hp1 NA19030.hp2 NA19060.hp1 NA20300.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0001c0006 a0001c0007 others(4): Show a0001c0002 a0001c0006 a0001c0007 a0001c0012 a0001c0017 a0002c0003 a0006c0013	a0001c0002t0003 a0001c0002t0008 a0001c0002t0009 others(18): Show a0001c0002t0003 a0001c0002t0008 a0001c0002t0009 a0001c0002t0014 a0001c0002t0022 a0001c0002t0023 a0001c0002t0028 a0001c0002t0032 a0001c0002t0033 a0001c0002t0035 a0001c0002t0036 a0001c0002t0037 a0001c0006t0012 a0001c0006t0017 a0001c0007t0013 a0001c0012t0008 a0001c0017t0003 a0002c0003t0011 a0002c0003t0024 a0002c0003t0025 a0006c0013t0003	a0001c0002t0003g0003 a0001c0002t0003g0006 a0001c0002t0003g0008 others(44): Show a0001c0002t0003g0003 a0001c0002t0003g0006 a0001c0002t0003g0008 a0001c0002t0003g0021 a0001c0002t0003g0031 a0001c0002t0003g0038 a0001c0002t0003g0054 a0001c0002t0003g0062 a0001c0002t0003g0068 a0001c0002t0003g0095 a0001c0002t0003g0101 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0112 a0001c0002t0003g0115 a0001c0002t0003g0128 a0001c0002t0003g0138 a0001c0002t0003g0140 a0001c0002t0003g0141 a0001c0002t0003g0147 a0001c0002t0008g0004 a0001c0002t0008g0148 a0001c0002t0008g0189 a0001c0002t0009g0065 a0001c0002t0009g0069 a0001c0002t0009g0070 a0001c0002t0014g0113 a0001c0002t0014g0142 a0001c0002t0022g0132 a0001c0002t0023g0104 a0001c0002t0028g0137 a0001c0002t0032g0146 a0001c0002t0033g0013 a0001c0002t0035g0011 a0001c0002t0036g0203 a0001c0002t0037g0197 a0001c0006t0012g0093 a0001c0006t0017g0198 a0001c0006t0017g0199 a0001c0007t0013g0002 a0001c0012t0008g0190 a0001c0017t0003g0040 a0002c0003t0011g0033 a0002c0003t0011g0134 a0002c0003t0024g0135 a0002c0003t0025g0048 a0006c0013t0003g0037	50	208	0.2404	-37	c.-20 others(56): Show c.-206-2934_-206-2898delCCCAGGGTGGGGGTGGATGAGGGAAA AGCTGGTGGAG	SMPD3	ENSG00000103056.12	transcript	ENST00000219334.10	protein_coding	2/8			chr16	TogoVar
SMUG1_chr12_54175366_54193985	54188267	AAATAATA others(30): Show AAATAATAATAATAATAATAATAATAATAAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03471.hp2 HG03704.hp1 others(3): Show HG03225.hp1 HG03471.hp2 HG03704.hp1 NA18960.hp2 NA18981.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0067 a0001c0001t0001g0206 a0001c0001t0001g0207 others(2): Show a0001c0001t0001g0067 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0003g0137 a0001c0001t0003g0138	6	438	0.0137	-37	c.-10 others(54): Show c.-103-402_-103-366delATTATTATTTATTATTATTATTATTATT ATTATTATT	SMUG1	ENSG00000123415.16	transcript	ENST00000682136.1	protein_coding	1/3			chr12	TogoVar
SMYD3_chr1_245744347_246512279	246323506	TTCAGGCA others(30): Show TTCAGGCAATAATCATGAGCTTCCATTAGAAAAAGCCA	T T	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0083 a0001c0002t0002g0083	1	150	0.0067	-37	c.531 others(54): Show c.531+3658_531+3694delTGGCTTTTTCTAATGGAAGCTCATGATT ATTGCCTGA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG1_chr8_49906407_50801692	50259511	AGAAAGAA others(30): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	106	0.0094	-37	c.-28 others(56): Show c.-28+86877_-28+86913delGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAG	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	2/18			chr8	TogoVar
SNTG2_chr2_945849_1372613	1012591	GCAGAGAG others(30): Show GCAGAGAGAAGGGTGGTCTGGAAAGGGATTTATAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp2 HG02647.hp1 HG02886.hp2	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0001 a0011c0018t0001	a0011c0018t0001g0045 a0011c0018t0001g0046 a0011c0018t0001g0045 a0011c0018t0001g0046	2	190	0.0105	-37	c.72+ others(54): Show c.72+61543_72+61579delGAAAGGGATTTATAAGGACAGAGAGAAG GGTGGTCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1012824	GGTGGTCT others(30): Show GGTGGTCTGGAGAAGGATTTATATGGGCAGAGAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp1 HG01081.hp1 others(25): Show HG00140.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG02148.hp1 HG02280.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02922.hp1 HG02922.hp2 HG03209.hp1 HG03209.hp2 HG03654.hp2 HG03831.hp1 HG04115.hp2 NA18969.hp2 NA19043.hp1 NA20905.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0017 a0022	a0001c0001 a0001c0002 a0002c0003 others(8): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0003c0007 a0003c0008 a0004c0004 a0005c0015 a0007c0016 a0017c0031 a0022c0021	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(9): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0005t0001 a0003c0007t0001 a0003c0008t0001 a0004c0004t0001 a0004c0004t0002 a0005c0015t0001 a0007c0016t0001 a0017c0031t0001 a0022c0021t0001	a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0057 others(25): Show a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0102 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0002t0001g0112 a0001c0002t0001g0145 a0002c0003t0001g0052 a0002c0003t0001g0061 a0002c0003t0001g0129 a0002c0003t0001g0148 a0002c0003t0001g0154 a0002c0005t0001g0101 a0003c0007t0001g0104 a0003c0008t0001g0100 a0003c0008t0001g0130 a0003c0008t0001g0190 a0004c0004t0001g0180 a0004c0004t0001g0181 a0004c0004t0002g0074 a0005c0015t0001g0103 a0007c0016t0001g0005 a0017c0031t0001g0110 a0022c0021t0001g0111	28	190	0.1474	-37	c.72+ others(54): Show c.72+61765_72+61801delGAGAAGGATTTATATGGGCAGAGAGAAG AGTGGTCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1012981	TAGAGGGA others(30): Show TAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGG	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03579.hp1 HG02965.hp2 HG03579.hp1	a0004 a0006 a0004 a0006	a0004c0004 a0006c0028 a0004c0004 a0006c0028	a0004c0004t0001 a0006c0028t0001 a0004c0004t0001 a0006c0028t0001	a0004c0004t0001g0116 a0006c0028t0001g0117 a0004c0004t0001g0116 a0006c0028t0001g0117	2	190	0.0105	-37	c.72+ others(54): Show c.72+61987_72+62023delGAGAGGGATTTATATGGGCAGAGAGAAG GGTGGTCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1013180	TGGGCAGA others(30): Show TGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAA	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0107 a0002c0005t0001g0107	1	190	0.0053	-37	c.72+ others(54): Show c.72+62172_72+62208delTAGAGGGATTTATAAGGGCAGAGAGAAG GGTGGTCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1013439	TGGGCAGA others(30): Show TGGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	190	0.0053	-37	c.72+ others(54): Show c.72+62431_72+62467delTAGAGGGATTTATAAGGGCAGAGAGAAG GGTGGTCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1013758	TAGAGGGA others(30): Show TAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0147 a0010c0012t0001g0147	1	190	0.0053	-37	c.72+ others(54): Show c.72+62704_72+62740delAGGGCAGAGAGAAGGGTGGTCTGGAGAG GGATTTATA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1013873	GGGATTTA others(30): Show GGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAA	G G	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0134 a0004c0004t0001g0134	1	190	0.0053	-37	c.72+ others(54): Show c.72+62838_72+62874delGAGAAGGATTTATATGGGCAGAGAGAAG GGTGGTCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1014243	GGGATTTA others(30): Show GGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02965.hp1 HG02965.hp2 others(2): Show HG02895.hp1 HG02965.hp1 HG02965.hp2 NA18522.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0015 a0016	a0001c0002 a0003c0008 a0006c0028 others(2): Show a0001c0002 a0003c0008 a0006c0028 a0015c0036 a0016c0034	a0001c0002t0001 a0003c0008t0001 a0006c0028t0001 others(2): Show a0001c0002t0001 a0003c0008t0001 a0006c0028t0001 a0015c0036t0001 a0016c0034t0001	a0001c0002t0001g0133 a0003c0008t0001g0106 a0006c0028t0001g0117 others(2): Show a0001c0002t0001g0133 a0003c0008t0001g0106 a0006c0028t0001g0117 a0015c0036t0001g0070 a0016c0034t0001g0146	5	190	0.0263	-37	c.72+ others(54): Show c.72+63208_72+63244delGAGAAGGATTTATATGGGCAGAGAGAAG GGTGGTCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1014368	CAGAGAGA others(30): Show CAGAGAGAAGGGTGGTCTGGAAAGTGATTTACAAGGGT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02738.hp1 HG03239.hp1 others(5): Show HG00673.hp2 HG02738.hp1 HG03239.hp1 NA18970.hp1 NA18984.hp2 NA18986.hp1 NA19000.hp2 NA19084.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0008 a0023	a0001c0001 a0002c0005 a0004c0004 others(3): Show a0001c0001 a0002c0005 a0004c0004 a0006c0009 a0008c0011 a0023c0027	a0001c0001t0001 a0002c0005t0001 a0004c0004t0001 others(3): Show a0001c0001t0001 a0002c0005t0001 a0004c0004t0001 a0006c0009t0001 a0008c0011t0001 a0023c0027t0001	a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0125 others(5): Show a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0125 a0002c0005t0001g0131 a0004c0004t0001g0040 a0006c0009t0001g0121 a0008c0011t0001g0128 a0023c0027t0001g0127	8	190	0.0421	-37	c.72+ others(54): Show c.72+63314_72+63350delGTCTGGAAAGTGATTTACAAGGGTAGAG AGAAGGGTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1014382	GTCTGGAA others(30): Show GTCTGGAAAGTGATTTACAAGGGTAGAGAGAAGGGTGC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0095 a0003c0008t0001g0095	1	190	0.0053	-37	c.72+ others(54): Show c.72+63321_72+63357delAAGTGATTTACAAGGGTAGAGAGAAGGG TGCTCTGGA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1014502	GGGATTTA others(30): Show GGGATTTATATGGGCAGAAAGAAGGGTGGTCTGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02970.hp1 HG03486.hp1 HG02895.hp1 HG02970.hp1 HG03486.hp1	a0001 a0014 a0015 a0001 a0014 a0015	a0001c0002 a0014c0035 a0015c0036 a0001c0002 a0014c0035 a0015c0036	a0001c0002t0001 a0014c0035t0001 a0015c0036t0001 a0001c0002t0001 a0014c0035t0001 a0015c0036t0001	a0001c0002t0001g0069 a0014c0035t0001g0071 a0015c0036t0001g0070 a0001c0002t0001g0069 a0014c0035t0001g0071 a0015c0036t0001g0070	3	190	0.0158	-37	c.72+ others(54): Show c.72+63452_72+63488delAAGAAGGGTGGTCTGGAGAAGGATTTAT ATGGGCAGA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1014626	ACAGAGAG others(30): Show ACAGAGAGAAGGGTGGTCTGTAGAGGGATTTATATGGG	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0165 a0002c0003t0001g0165	1	190	0.0053	-37	c.72+ others(54): Show c.72+63618_72+63654delAGGGATTTATATGGGCAGAGAGAAGGGT GGTCTGTAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1014740	GAGAGAGA others(30): Show GAGAGAGAAGGGTGGTCTGGAGAAGGATTTATAAGAGC	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03710.hp2 homoSapiens_chm13v2.hp1 HG03225.hp2 HG03710.hp2 homoSapiens_chm13v2.hp1	a0004 a0005 a0016 a0004 a0005 a0016	a0004c0014 a0005c0015 a0016c0034 a0004c0014 a0005c0015 a0016c0034	a0004c0014t0001 a0005c0015t0001 a0016c0034t0001 a0004c0014t0001 a0005c0015t0001 a0016c0034t0001	a0004c0014t0001g0036 a0005c0015t0001g0153 a0016c0034t0001g0146 a0004c0014t0001g0036 a0005c0015t0001g0153 a0016c0034t0001g0146	3	190	0.0158	-37	c.72+ others(54): Show c.72+63707_72+63743delAGCAGAGAGAAGGGTGGTCTGGAGAAGG ATTTATAAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1056423	CGCTGTGC others(30): Show CGCTGTGCTGTGGGGAGGGAGGGAGAGCGTCGCGCTGT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01516.hp1 HG01975.hp1 others(3): Show HG01081.hp1 HG01516.hp1 HG01975.hp1 HG02280.hp1 HG03654.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0140 others(3): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0140 a0001c0001t0001g0141 a0002c0003t0001g0030 a0002c0003t0001g0183	6	190	0.0316	-37	c.73- others(54): Show c.73-27088_73-27052delCTGTGGGGAGGGAGGGAGAGCGTCGCGC TGTGCTGTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX16_chr8_81794583_81847185	81842530	GAAAGAAA others(30): Show GAAAGAAAACGAGCGAGGGAGAGAGCGAGAGCGAGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0220 a0001c0001t0016g0220	1	306	0.0033	-37	c.-54 others(46): Show c.-542_-506delTCTCTCGCTCTCGCTCTCTCCCTCGCTCGTTTTCTT T	SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding		346		chr8	TogoVar
SNX18_chr5_54512759_54551586	54512804	GCCTTCCT others(30): Show GCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCCTTCCTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18948.hp2 NA18990.hp2 others(2): Show NA18942.hp1 NA18948.hp2 NA18990.hp2 NA18995.hp1 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0015 a0001c0002t0001g0146 others(2): Show a0001c0002t0001g0002 a0001c0002t0001g0015 a0001c0002t0001g0146 a0001c0002t0001g0151 a0001c0002t0001g0186	5	390	0.0128	-37	c.-51 others(48): Show c.-5148_-5112delCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCCTTC CTT	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		4954		chr5	TogoVar
SNX18_chr5_54512759_54551586	54513666	ATTTATAT others(30): Show ATTTATATATATTATATATTTTTATATAATATATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00597.hp2 others(75): Show HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp2 HG02273.hp2 HG02486.hp2 HG02622.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03225.hp1 HG03486.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp2 NA18972.hp2 NA18977.hp1 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19010.hp2 NA19056.hp1 NA19060.hp2 NA19066.hp2 NA19068.hp1 NA19072.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19088.hp2 NA19089.hp1 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0006 a0001c0012 others(1): Show a0001c0002 a0001c0006 a0001c0012 a0003c0013	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(10): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 a0001c0002t0014 a0001c0002t0016 a0001c0002t0022 a0001c0002t0039 a0001c0002t0043 a0001c0002t0044 a0001c0006t0001 a0001c0012t0002 a0003c0013t0001	a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0015 others(49): Show a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0015 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0047 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0165 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0002g0149 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0006g0164 a0001c0002t0008g0002 a0001c0002t0008g0004 a0001c0002t0008g0011 a0001c0002t0008g0015 a0001c0002t0008g0144 a0001c0002t0008g0147 a0001c0002t0014g0163 a0001c0002t0016g0002 a0001c0002t0016g0004 a0001c0002t0016g0137 a0001c0002t0022g0187 a0001c0002t0022g0188 a0001c0002t0022g0190 a0001c0002t0039g0002 a0001c0002t0043g0002 a0001c0002t0044g0159 a0001c0006t0001g0011 a0001c0006t0001g0030 a0001c0006t0001g0048 a0001c0006t0001g0166 a0001c0006t0001g0167 a0001c0012t0002g0001 a0003c0013t0001g0004	78	390	0.2000	-37	c.-42 others(48): Show c.-4286_-4250delTTTATATATATTATATATTTTTATATAATATATA AAT	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		4092		chr5	TogoVar
SNX29_chr16_11971734_12579287	12512382	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03486.hp1 HG03486.hp2 others(2): Show HG02965.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0002t0086 a0001c0003t0029 others(2): Show a0001c0001t0002 a0001c0002t0086 a0001c0003t0029 a0001c0003t0054 a0001c0004t0021	a0001c0001t0002g0169 a0001c0002t0086g0066 a0001c0003t0029g0053 others(2): Show a0001c0001t0002g0169 a0001c0002t0086g0066 a0001c0003t0029g0053 a0001c0003t0054g0117 a0001c0004t0021g0080	5	176	0.0284	-37	c.217 others(58): Show c.2179-12318_2179-12282delATATATATATATATATATATATAT ATATATATATAGT	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX8_chr7_2246770_2319441	2267944	GGGAGCGC others(30): Show GGGAGCGCCTCTGCCCCGCCGCCCCATCTGGGATGTGA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	370	0.0027	-37	c.621 others(54): Show c.621+1578_621+1614delTCACATCCCAGATGGGGCGGCGGGGCAG AGGCGCTCC	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	5/10			chr7	TogoVar

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