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
SENP2_chr3_185581295_185638551	185584449	CTACATAT others(21): Show CTACATATATATATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00597.hp2 HG00639.hp2 others(55): Show HG00099.hp2 HG00597.hp2 HG00639.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02074.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02630.hp2 HG02683.hp1 HG02717.hp2 HG02818.hp2 HG02965.hp1 HG03017.hp2 HG03209.hp1 HG03453.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG04204.hp1 HG04228.hp1 NA18968.hp2 NA18980.hp1 NA19030.hp1 NA19043.hp1 NA19068.hp1 NA19070.hp1 NA19082.hp2 NA19086.hp1 NA19240.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0058 a0002c0002t0001 a0002c0002t0002 others(23): Show a0001c0001t0058 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0002t0018 a0002c0002t0030 a0002c0002t0048 a0002c0002t0049 a0002c0002t0105 a0002c0002t0106 a0002c0002t0107 a0002c0002t0108 a0002c0002t0110 a0002c0002t0111 a0002c0002t0112 a0002c0002t0114 a0002c0002t0115 a0002c0002t0116 a0002c0002t0117 a0002c0002t0118 a0002c0002t0119 a0002c0002t0120 a0002c0002t0122 a0002c0002t0124 a0002c0002t0234 a0003c0004t0010	a0001c0001t0058g0143 a0002c0002t0001g0220 a0002c0002t0001g0222 others(55): Show a0001c0001t0058g0143 a0002c0002t0001g0220 a0002c0002t0001g0222 a0002c0002t0001g0229 a0002c0002t0001g0233 a0002c0002t0001g0237 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0258 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0275 a0002c0002t0001g0278 a0002c0002t0002g0217 a0002c0002t0002g0228 a0002c0002t0002g0230 a0002c0002t0002g0235 a0002c0002t0002g0242 a0002c0002t0002g0252 a0002c0002t0002g0255 a0002c0002t0002g0257 a0002c0002t0002g0259 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0279 a0002c0002t0010g0268 a0002c0002t0010g0269 a0002c0002t0010g0272 a0002c0002t0010g0281 a0002c0002t0018g0223 a0002c0002t0018g0224 a0002c0002t0018g0227 a0002c0002t0030g0232 a0002c0002t0030g0280 a0002c0002t0048g0283 a0002c0002t0049g0265 a0002c0002t0105g0238 a0002c0002t0106g0250 a0002c0002t0107g0241 a0002c0002t0108g0260 a0002c0002t0110g0266 a0002c0002t0111g0256 a0002c0002t0112g0231 a0002c0002t0114g0236 a0002c0002t0115g0267 a0002c0002t0116g0226 a0002c0002t0117g0008 a0002c0002t0118g0225 a0002c0002t0119g0263 a0002c0002t0120g0007 a0002c0002t0122g0246 a0002c0002t0124g0251 a0002c0002t0234g0245 a0003c0004t0010g0264	58	360	0.1611	-28	c.-19 others(39): Show c.-1964_-1937delTACATATATATATATATATATATATATA	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding		1845		chr3	TogoVar
SENP3_chr17_7556919_7576969	7571837	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG02257.hp1 HG02300.hp1 others(3): Show HG00099.hp2 HG02257.hp1 HG02300.hp1 HG02602.hp1 HG03927.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0002 a0001c0001t0014g0003 a0001c0001t0014g0023 others(1): Show a0001c0001t0014g0002 a0001c0001t0014g0003 a0001c0001t0014g0023 a0001c0001t0014g0094	6	446	0.0135	-28	c.39 others(37): Show c.399_*426delTATATATATATATATATATATATATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	399	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP3_chr17_7556919_7576969	7571884	TATATATA others(21): Show TATATATATATATATATATATATATAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp2 NA18940.hp1 NA18943.hp2 others(1): Show HG01168.hp2 NA18940.hp1 NA18943.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0090 a0001c0001t0095 others(1): Show a0001c0001t0079 a0001c0001t0090 a0001c0001t0095 a0001c0001t0164	a0001c0001t0079g0030 a0001c0001t0090g0001 a0001c0001t0095g0001 others(1): Show a0001c0001t0079g0030 a0001c0001t0090g0001 a0001c0001t0095g0001 a0001c0001t0164g0010	4	446	0.0090	-28	c.40 others(37): Show c.409_*436delTATATATATATATATATAAAAATATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	409	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP7_chr3_101319205_101518212	101463370	TATATATA others(21): Show TATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03195.hp1 NA18522.hp1 HG02280.hp1 HG03195.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0010 a0001c0003t0002 a0001c0003t0010	a0001c0003t0002g0021 a0001c0003t0010g0022 a0001c0003t0010g0023 a0001c0003t0002g0021 a0001c0003t0010g0022 a0001c0003t0010g0023	3	370	0.0081	-28	c.187 others(45): Show c.187-4346_187-4319delGTATATATATATATATATATATATATAT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23			chr3	TogoVar
SEPTIN10_chr2_109537799_109618966	109590078	ATATGTAT others(21): Show ATATGTATATATATACACACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA19240.hp1 HG00597.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0253 a0001c0001t0002g0076 a0001c0001t0001g0253 a0001c0001t0002g0076	2	404	0.0050	-28	c.99+ others(43): Show c.99+2945_99+2972delCATATATATGTGTGTATATATATACATA	SEPTIN10	ENSG00000186522.15	transcript	ENST00000397712.7	protein_coding	2/10			chr2	TogoVar
SEPTIN6_chrX_119611945_119698168	119648806	CCTGAGTT others(21): Show CCTGAGTTTGGCTATACCCAGGCATTATG	C C	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0034 a0002c0003t0034	a0002c0003t0034g0079 a0002c0003t0034g0079	1	252	0.0040	-28	c.690 others(45): Show c.690+1103_690+1130delCATAATGCCTGGGTATAGCCAAACTCAG	SEPTIN6	ENSG00000125354.24	transcript	ENST00000394610.7	protein_coding	5/10			chrX	TogoVar
SEPTIN7_chr7_35796057_35912110	35838294	TTCCTTCC others(21): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp2 HG02615.hp1 others(4): Show HG02109.hp2 HG02486.hp2 HG02615.hp1 HG02630.hp2 NA18959.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0038 a0001c0001t0001 a0001c0001t0004 a0001c0001t0038	a0001c0001t0001g0280 a0001c0001t0004g0002 a0001c0001t0004g0028 others(3): Show a0001c0001t0001g0280 a0001c0001t0004g0002 a0001c0001t0004g0028 a0001c0001t0004g0174 a0001c0001t0004g0193 a0001c0001t0038g0170	7	346	0.0202	-28	c.169 others(45): Show c.169+5398_169+5425delTTCCTTCCCTCCCTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838298	TTCCTTCC others(21): Show TTCCTTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00733.hp1 others(19): Show HG00438.hp2 HG00609.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01109.hp2 HG01346.hp1 HG01346.hp2 HG01516.hp2 HG01943.hp2 HG01978.hp1 HG02165.hp2 HG02572.hp2 HG02683.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18978.hp1 NA19004.hp2 NA19007.hp1 NA19075.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015	a0001c0001t0001g0008 a0001c0001t0001g0222 a0001c0001t0001g0223 others(18): Show a0001c0001t0001g0008 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0265 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0297 a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0331 a0001c0001t0009g0264 a0001c0001t0012g0234 a0001c0001t0015g0277	22	346	0.0636	-28	c.169 others(45): Show c.169+5402_169+5429delTTCCCTCCCTCCCTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838302	TTCCCTCC others(21): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03516.hp1 HG02630.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0231 a0001c0001t0003g0095 a0001c0001t0001g0231 a0001c0001t0003g0095	2	346	0.0058	-28	c.169 others(45): Show c.169+5438_169+5465delCTCCCTCCCTCCCTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERAC1_chr6_158104519_158173262	158143327	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03453.hp2 HG02083.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0118 a0001c0001t0002g0202 a0001c0001t0001g0118 a0001c0001t0002g0202	2	366	0.0055	-28	c.610 others(43): Show c.610-171_610-144delTATATATAGAGAGAGAGAGAGAGAGAGA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	7/16			chr6	TogoVar
SERAC1_chr6_158104519_158173262	158143331	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0264 a0001c0002t0003g0264	1	366	0.0027	-28	c.610 others(43): Show c.610-175_610-148delTATATATATATAGAGAGAGAGAGAGAGA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	7/16			chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169397	TTATATTG others(21): Show TTATATTGTATATTATATATTATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	366	0.0027	-28	c.-12 others(39): Show c.-1287_-1260delTTATATATAATATATAATATACAATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1136		chr6	TogoVar
SERF2_chr15_43787320_43801079	43788646	CTGCTGTA others(21): Show CTGCTGTAATCCATTCTCTACTGGTAAAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	1	392	0.0026	-28	c.-37 others(39): Show c.-3730_-3703delTGCTGTAATCCATTCTCTACTGGTAAAG	SERF2	ENSG00000140264.22	transcript	ENST00000249786.9	protein_coding		3673		chr15	TogoVar
SERINC5_chr5_80133727_80261048	80135581	GCAGTGCA others(21): Show GCAGTGCAGTTTAAACAGTTCATAGTGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0235 a0001c0001t0010g0235	1	286	0.0035	-28	c.80 others(39): Show c.8054_*8081delGACACTATGAACTGTTTAAACTGCACTG	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding		3145		chr5	TogoVar
SERINC5_chr5_80133727_80261048	80251279	AATACATA others(21): Show AATACATACATGCATACATACATACATAC	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0279 a0001c0001t0041g0279	1	286	0.0035	-28	c.27+ others(43): Show c.27+4589_27+4616delGTATGTATGTATGTATGCATGTATGTAT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	1/11			chr5	TogoVar
SERPINA9_chr14_94457721_94481197	94476394	CTTGATAT others(21): Show CTTGATATCTCCTCCTGATGTTGCAAATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0288 a0001c0002t0003g0288	1	466	0.0022	-28	c.-30 others(37): Show c.-304_-277delTATTTGCAACATCAGGAGGAGATATCAA	SERPINA9	ENSG00000170054.16	transcript	ENST00000674397.2	protein_coding		198		chr14	TogoVar
SERPINB7_chr18_63770418_63810370	63772551	ATAAAATA others(21): Show ATAAAATAATTTAGGAGGTGAAATGGGAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	432	0.0023	-28	c.-31 others(39): Show c.-3183_-3156delTAAAATAATTTAGGAGGTGAAATGGGAC	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding		2866		chr18	TogoVar
SERPINB7_chr18_63770418_63810370	63783208	GAGAGAGA others(21): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA18963.hp1 NA19085.hp2 HG01943.hp2 NA18963.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0171 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0171	3	432	0.0069	-28	c.168 others(43): Show c.168+672_168+699delGAGAGAGAGAGAGAGAGAGAGAGAAAGA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB7_chr18_63770418_63810370	63783212	GAGAGAGA others(21): Show GAGAGAGAGAGAGAGAGAGAGAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02004.hp1 HG02622.hp1 others(5): Show HG00642.hp2 HG02004.hp1 HG02622.hp1 HG02895.hp2 NA18968.hp1 NA19054.hp2 NA19081.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0003g0212 others(5): Show a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0003g0212 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0004g0233	8	432	0.0185	-28	c.168 others(43): Show c.168+676_168+703delGAGAGAGAGAGAGAGAGAGAAAGAAAGA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINE1_chr7_101122104_101144247	101135257	GAGAGAGA others(21): Show GAGAGAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02896.hp1 HG02897.hp1 HG02040.hp2 HG02896.hp1 HG02897.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0225 a0002c0003t0001g0064 a0002c0003t0001g0065 a0001c0001t0002g0225 a0002c0003t0001g0064 a0002c0003t0001g0065	3	436	0.0069	-28	c.900 others(43): Show c.900-233_900-206delGAGAAAGAAAGAAAGAAAGAAAGAAAGA	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERPINE1_chr7_101122104_101144247	101138598	GACCTACC others(21): Show GACCTACCAGGACAGAACTTTCCCCAATT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0264 a0001c0001t0032g0264	1	436	0.0023	-28	c.11 others(39): Show c.1159_*1186delCTACCAGGACAGAACTTTCCCCAATTAC	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding	9/9	1159	INFO_REALIGN_3_PRIME	chr7	TogoVar
SERPINE2_chr2_223970045_224044286	224044128	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00597.hp1 others(17): Show HG00408.hp2 HG00423.hp1 HG00597.hp1 HG01433.hp1 HG01884.hp1 HG02615.hp1 HG02622.hp1 HG02818.hp2 HG02922.hp1 HG03471.hp1 NA18940.hp2 NA18969.hp2 NA18992.hp2 NA19002.hp1 NA19043.hp1 NA19056.hp2 NA19063.hp2 NA19066.hp1 NA19083.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0013	a0001c0001t0002 a0001c0003t0002 a0001c0004t0002 others(2): Show a0001c0001t0002 a0001c0003t0002 a0001c0004t0002 a0001c0005t0002 a0001c0013t0002	a0001c0001t0002g0267 a0001c0003t0002g0008 a0001c0003t0002g0012 others(16): Show a0001c0001t0002g0267 a0001c0003t0002g0008 a0001c0003t0002g0012 a0001c0003t0002g0236 a0001c0003t0002g0238 a0001c0003t0002g0259 a0001c0003t0002g0271 a0001c0003t0002g0277 a0001c0004t0002g0222 a0001c0004t0002g0226 a0001c0004t0002g0241 a0001c0004t0002g0242 a0001c0004t0002g0245 a0001c0004t0002g0250 a0001c0004t0002g0266 a0001c0005t0002g0272 a0001c0005t0002g0273 a0001c0005t0002g0274 a0001c0013t0002g0210	20	374	0.0535	-28	c.-50 others(39): Show c.-5080_-5053delGAAAGAAAGAAAGAAAGAAAGAAAGAAA	SERPINE2	ENSG00000135919.14	transcript	ENST00000409304.6	protein_coding		4843		chr2	TogoVar
SESN3_chr11_95160513_95236202	95223771	GTAAATGT others(21): Show GTAAATGTCTTGGTCCTGGAACCCCTTCA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18951.hp2 NA19000.hp2 others(2): Show HG00609.hp1 NA18951.hp2 NA19000.hp2 NA19005.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0231 a0001c0001t0001g0232 others(2): Show a0001c0001t0001g0212 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234	5	392	0.0128	-28	c.78+ others(43): Show c.78+6984_78+7011delTGAAGGGGTTCCAGGACCAAGACATTTA	SESN3	ENSG00000149212.12	transcript	ENST00000536441.7	protein_coding	1/9			chr11	TogoVar
SETBP1_chr18_44675888_45073510	44703348	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0004 a0004c0004t0001g0004	1	140	0.0071	-28	c.486 others(45): Show c.486+1535_486+1562delTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44868701	CGGAAGGA others(21): Show CGGAAGGAAGGGAGGAAGGAAGGAAGGAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02723.hp1 HG02976.hp1 others(5): Show HG02486.hp2 HG02723.hp1 HG02976.hp1 HG03041.hp1 HG03516.hp2 HG03579.hp1 NA18981.hp1 NA19043.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0009 a0002c0002 others(1): Show a0001c0001 a0001c0009 a0002c0002 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 a0001c0009t0002 a0002c0002t0001 a0005c0006t0003	a0001c0001t0001g0071 a0001c0001t0002g0102 a0001c0001t0002g0127 others(5): Show a0001c0001t0001g0071 a0001c0001t0002g0102 a0001c0001t0002g0127 a0001c0001t0010g0035 a0001c0001t0012g0033 a0001c0009t0002g0106 a0002c0002t0001g0123 a0005c0006t0003g0022	8	140	0.0571	-28	c.487 others(43): Show c.487-518_487-491delGAGGAAGGAAGGAAGGAAGGAAGGAAGG	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETDB1_chr1_150921363_150969737	150958225	CCTTTTTT others(21): Show CCTTTTTTTTTTTCTTTTTTTTCTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	352	0.0028	-28	c.233 others(45): Show c.2334-940_2334-913delCTTTTTTTTCTTTTTTCTTTTTTTTTTT	SETDB1	ENSG00000143379.13	transcript	ENST00000692827.1	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
SETSIP_chr1_92069533_92080411	92076539	TTTTATTT others(21): Show TTTTATTTATTTATTTATTTATTTATTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02257.hp2 others(17): Show HG01891.hp2 HG02055.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02717.hp2 HG02723.hp1 HG02922.hp1 HG03098.hp2 HG03139.hp2 HG03486.hp1 HG03516.hp2 HG06807.hp2 NA18906.hp2 NA19030.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0007 a0001c0001 a0002c0002 a0006c0007	a0001c0001t0000 a0002c0002t0000 a0006c0007t0000 a0001c0001t0000 a0002c0002t0000 a0006c0007t0000	a0001c0001t0000g0000 a0002c0002t0000g0000 a0006c0007t0000g0000 a0001c0001t0000g0000 a0002c0002t0000g0000 a0006c0007t0000g0000	20	363	0.0551	-28	c.-11 others(39): Show c.-1156_-1129delTAAATAAATAAATAAATAAATAAATAAA	SETSIP	ENSG00000230667.7	transcript	ENST00000596516.3	protein_coding		1129		chr1	TogoVar
SETX_chr9_132256356_132359986	132354937	CCTCTAGC others(21): Show CCTCTAGCCCACCTCCATACCGGGCCCCG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0361 a0001c0001t0037g0361	1	362	0.0028	-28	c.-16 others(37): Show c.-163_-136delCGGGGCCCGGTATGGAGGTGGGCTAGAG	SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding	1/26	5510		chr9	TogoVar
SETX_chr9_132256356_132359986	132357914	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp1 others(86): Show HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00609.hp1 HG01106.hp2 HG01192.hp1 HG01361.hp1 HG01433.hp1 HG01952.hp2 HG01978.hp1 HG02027.hp2 HG02056.hp2 HG02132.hp2 HG02257.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02886.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03831.hp1 HG04115.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18944.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19064.hp2 NA19066.hp2 NA19079.hp1 NA19081.hp1 NA19084.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp2	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0010 a0011 a0013 a0014 a0017 a0018 a0019 a0020 a0021 a0025 a0028 a0029 a0039 a0043	a0001c0001 a0002c0002 a0003c0003 others(22): Show a0001c0001 a0002c0002 a0003c0003 a0005c0004 a0006c0013 a0006c0039 a0006c0048 a0007c0006 a0008c0008 a0008c0045 a0010c0011 a0011c0014 a0013c0027 a0013c0059 a0014c0028 a0017c0026 a0018c0023 a0019c0021 a0020c0022 a0021c0025 a0025c0058 a0028c0051 a0029c0043 a0039c0055 a0043c0057	a0001c0001t0001 a0002c0002t0003 a0002c0002t0006 others(29): Show a0001c0001t0001 a0002c0002t0003 a0002c0002t0006 a0002c0002t0014 a0002c0002t0024 a0002c0002t0033 a0003c0003t0002 a0005c0004t0002 a0006c0013t0009 a0006c0039t0004 a0006c0048t0032 a0007c0006t0003 a0008c0008t0001 a0008c0008t0029 a0008c0045t0001 a0010c0011t0001 a0011c0014t0003 a0011c0014t0025 a0013c0027t0001 a0013c0059t0001 a0014c0028t0015 a0017c0026t0019 a0018c0023t0003 a0019c0021t0001 a0020c0022t0002 a0021c0025t0022 a0021c0025t0036 a0025c0058t0027 a0028c0051t0026 a0029c0043t0012 a0039c0055t0003 a0043c0057t0003	a0001c0001t0001g0010 a0001c0001t0001g0053 a0002c0002t0003g0004 others(86): Show a0001c0001t0001g0010 a0001c0001t0001g0053 a0002c0002t0003g0004 a0002c0002t0003g0006 a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0009 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0015 a0002c0002t0003g0016 a0002c0002t0003g0018 a0002c0002t0003g0020 a0002c0002t0003g0021 a0002c0002t0003g0022 a0002c0002t0003g0023 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0030 a0002c0002t0003g0032 a0002c0002t0003g0033 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0040 a0002c0002t0003g0041 a0002c0002t0003g0043 a0002c0002t0003g0045 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0006g0024 a0002c0002t0006g0028 a0002c0002t0006g0029 a0002c0002t0006g0034 a0002c0002t0006g0036 a0002c0002t0006g0039 a0002c0002t0006g0042 a0002c0002t0006g0056 a0002c0002t0014g0002 a0002c0002t0014g0003 a0002c0002t0024g0050 a0002c0002t0033g0025 a0003c0003t0002g0054 a0005c0004t0002g0051 a0005c0004t0002g0052 a0005c0004t0002g0055 a0006c0013t0009g0061 a0006c0013t0009g0062 a0006c0013t0009g0063 a0006c0039t0004g0156 a0006c0048t0032g0151 a0007c0006t0003g0239 a0008c0008t0001g0082 a0008c0008t0001g0191 a0008c0008t0001g0193 a0008c0008t0001g0195 a0008c0008t0001g0196 a0008c0008t0029g0192 a0008c0045t0001g0194 a0010c0011t0001g0154 a0010c0011t0001g0155 a0010c0011t0001g0157 a0011c0014t0003g0150 a0011c0014t0003g0153 a0011c0014t0025g0152 a0013c0027t0001g0189 a0013c0027t0001g0190 a0013c0059t0001g0223 a0014c0028t0015g0357 a0014c0028t0015g0358 a0017c0026t0019g0220 a0017c0026t0019g0221 a0018c0023t0003g0013 a0018c0023t0003g0014 a0019c0021t0001g0044 a0019c0021t0001g0046 a0020c0022t0002g0017 a0020c0022t0002g0019 a0021c0025t0022g0149 a0021c0025t0036g0360 a0025c0058t0027g0188 a0028c0051t0026g0219 a0029c0043t0012g0359 a0039c0055t0003g0031 a0043c0057t0003g0005	89	362	0.2459	-28	c.-31 others(39): Show c.-3140_-3113delATTTATTTATTTATTTATTTATTTATTT	SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding		2929		chr9	TogoVar
SEZ6L_chr22_26164462_26388596	26266574	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG02723.hp1 others(2): Show HG02622.hp2 HG02630.hp1 HG02723.hp1 HG03225.hp1 HG03471.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0002 a0003c0004 a0001c0003 a0002c0002 a0003c0004	a0001c0003t0004 a0002c0002t0001 a0002c0002t0004 others(2): Show a0001c0003t0004 a0002c0002t0001 a0002c0002t0004 a0002c0002t0009 a0003c0004t0004	a0001c0003t0004g0197 a0002c0002t0001g0088 a0002c0002t0004g0158 others(2): Show a0001c0003t0004g0197 a0002c0002t0001g0088 a0002c0002t0004g0158 a0002c0002t0009g0099 a0003c0004t0004g0111	5	240	0.0208	-28	c.95- others(45): Show c.95-25814_95-25787delAATAAATAAATAAATAAATAAATAAATA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26292010	AGGAAGGA others(21): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02647.hp1 HG03130.hp1 others(1): Show HG02559.hp1 HG02647.hp1 HG03130.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0029 a0002c0018 a0001c0003 a0001c0029 a0002c0018	a0001c0003t0004 a0001c0003t0010 a0001c0029t0023 others(1): Show a0001c0003t0004 a0001c0003t0010 a0001c0029t0023 a0002c0018t0014	a0001c0003t0004g0210 a0001c0003t0010g0024 a0001c0029t0023g0207 others(1): Show a0001c0003t0004g0210 a0001c0003t0010g0024 a0001c0029t0023g0207 a0002c0018t0014g0105	4	240	0.0167	-28	c.95- others(41): Show c.95-392_95-365delAGGAAGGAAGGAAGGAAGGAAGGATGGA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFRP4_chr7_37900932_37921817	37905472	CTATCTAT others(21): Show CTATCTATCTATCTATCATCTATCTATCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0027 a0001c0004t0016g0027	1	472	0.0021	-28	c.19 others(39): Show c.1979_*2006delAGATAGATAGATGATAGATAGATAGATA	SFRP4	ENSG00000106483.12	transcript	ENST00000436072.7	protein_coding		459		chr7	TogoVar
SFXN1_chr5_175473560_175534742	175498086	AATTAATG others(21): Show AATTAATGAGAAAATTAATTATTAATCTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03098.hp1 HG02630.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0072 a0001c0001t0016g0073 a0001c0001t0016g0072 a0001c0001t0016g0073	2	372	0.0054	-28	c.164 others(45): Show c.164+5838_164+5865delTATTAATCTTATTAATGAGAAAATTAAT	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN1_chr5_175473560_175534742	175524119	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0351 a0001c0001t0005g0351	1	372	0.0027	-28	c.872 others(45): Show c.872+1699_872+1726delAAAAAATATATATATATATATATATATA	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN1_chr5_175473560_175534742	175524123	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02976.hp2 HG01433.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0239 a0001c0001t0018g0327 a0001c0001t0018g0239 a0001c0001t0018g0327	2	372	0.0054	-28	c.872 others(45): Show c.872+1703_872+1730delAATATATATATATATATATATATATATA	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN2_chr10_102709636_102748492	102724070	AGATATTT others(21): Show AGATATTTGGTTTTCTTACTTATAAATGT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02647.hp2 HG02922.hp1 others(1): Show HG02559.hp1 HG02647.hp2 HG02922.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0030 a0001c0001t0002g0039 a0001c0001t0002g0203 a0001c0001t0001g0030 a0001c0001t0002g0039 a0001c0001t0002g0203	4	404	0.0099	-28	c.-25 others(45): Show c.-25-2526_-25-2499delTACTTATAAATGTGATATTTGGTTTTCT	SFXN2	ENSG00000156398.13	transcript	ENST00000369893.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SFXN3_chr10_101026234_101046241	101044717	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02572.hp1 HG02723.hp1 HG01109.hp2 HG02572.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0001 a0001c0001t0004 a0001c0001t0012	a0001c0001t0001g0001 a0001c0001t0004g0002 a0001c0001t0012g0050 a0001c0001t0001g0001 a0001c0001t0004g0002 a0001c0001t0012g0050	3	444	0.0068	-28	c.51 others(39): Show c.5133_*5160delATATATATATATATATATATATATATAT	SFXN3	ENSG00000107819.15	transcript	ENST00000393459.6	protein_coding		3477		chr10	TogoVar
SFXN4_chr10_119135767_119170714	119146436	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGTGTGCAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp1 HG02559.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0004 a0001c0012t0009 a0001c0001t0004 a0001c0012t0009	a0001c0001t0004g0088 a0001c0012t0009g0379 a0001c0001t0004g0088 a0001c0012t0009g0379	2	432	0.0046	-28	c.819 others(42): Show c.819-111_819-84delGTGCACACACACACACACACACACACAC	SFXN4	ENSG00000183605.17	transcript	ENST00000355697.7	protein_coding	12/13			chr10	TogoVar
SFXN5_chr2_72937036_73076712	73012649	AACACACA others(21): Show AACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03098.hp1 HG02572.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0085 a0001c0002t0002g0086 a0001c0002t0001g0085 a0001c0002t0002g0086	2	250	0.0080	-28	c.357 others(45): Show c.357+7562_357+7589delGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	6/13			chr2	TogoVar
SGCD_chr5_156322164_156772788	156444115	TCCCCTTC others(21): Show TCCCCTTCCCTCTCTCTCTCTCTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0106 a0001c0002t0004g0106	1	150	0.0067	-28	c.193 others(47): Show c.193-64484_193-64457delCCCTTCCCTCTCTCTCTCTCTCCTTC CC	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156470310	TGATTGTT others(21): Show TGATTGTTACATAATTCATGAAGTTGCTG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0139 a0001c0001t0043g0139	1	150	0.0067	-28	c.193 others(47): Show c.193-38290_193-38263delGATTGTTACATAATTCATGAAGTTGC TG	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8			chr5	TogoVar
SGCD_chr5_156322164_156772788	156524094	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp2 HG03130.hp2 others(1): Show HG02922.hp1 HG02965.hp2 HG03130.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0021 a0001c0001t0047 a0001c0001t0049 others(1): Show a0001c0001t0021 a0001c0001t0047 a0001c0001t0049 a0001c0004t0001	a0001c0001t0021g0027 a0001c0001t0047g0003 a0001c0001t0049g0149 others(1): Show a0001c0001t0021g0027 a0001c0001t0047g0003 a0001c0001t0049g0149 a0001c0004t0001g0009	4	150	0.0267	-28	c.294 others(47): Show c.294+15418_294+15445delATATATATATATATATATATATATAT AT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156695483	CGATAGAT others(21): Show CGATAGATAGATAGATAGATAGATAGATG	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA18990.hp2 NA19002.hp1 others(2): Show HG02698.hp2 NA18990.hp2 NA19002.hp1 NA19010.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0025 a0001c0001t0026 a0001c0002t0010 a0001c0001t0025 a0001c0001t0026 a0001c0002t0010	a0001c0001t0025g0035 a0001c0001t0026g0016 a0001c0002t0010g0001 others(2): Show a0001c0001t0025g0035 a0001c0001t0026g0016 a0001c0002t0010g0001 a0001c0002t0010g0094 a0001c0002t0010g0108	5	150	0.0333	-28	c.575 others(47): Show c.575+47975_575+48002delGGATAGATAGATAGATAGATAGATAG AT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCE_chr7_94579980_94661133	94604806	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	390	0.0026	-28	c.663 others(45): Show c.663-1382_663-1355delATATATATATATATATATATATATATAT	SGCE	ENSG00000127990.19	transcript	ENST00000648936.2	protein_coding	5/10			chr7	TogoVar
SGCZ_chr8_14079845_15243431	14427060	ATGAATGA others(21): Show ATGAATGAGTGAATGAACGAATGAATGAG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0007 a0001c0001t0022g0007	1	102	0.0098	-28	c.235 others(49): Show c.235-102884_235-102857delCTCATTCATTCGTTCATTCACTCA TTCA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14702813	GTAGATAG others(21): Show GTAGATAGATAGATAGATAGATAGATAGA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0005 a0001c0001t0015g0005	1	102	0.0098	-28	c.40- others(47): Show c.40-147915_40-147888delTCTATCTATCTATCTATCTATCTATC TA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGIP1_chr1_66529153_66756139	66589163	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02818.hp2 HG03195.hp1 others(2): Show HG02615.hp2 HG02818.hp2 HG03195.hp1 HG03453.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0011 others(1): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0011 a0002c0002t0022	a0002c0002t0001g0252 a0002c0002t0004g0200 a0002c0002t0011g0250 others(2): Show a0002c0002t0001g0252 a0002c0002t0004g0200 a0002c0002t0011g0250 a0002c0002t0011g0256 a0002c0002t0022g0254	5	302	0.0166	-28	c.11- others(45): Show c.11-36657_11-36630delATATATATATATATATATATATATATAT	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66631681	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0050 a0001c0001t0010g0050	1	302	0.0033	-28	c.75- others(43): Show c.75-1369_75-1342delCTCTCTCTCTCTCTCTCTCTCTCTCTCT	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGK1_chr6_134164256_134323112	134206363	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG03195.hp1 NA21309.hp2 HG01952.hp1 HG03195.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0001t0001 a0001c0002t0007	a0001c0001t0001g0080 a0001c0001t0001g0158 a0001c0002t0007g0014 a0001c0001t0001g0080 a0001c0001t0001g0158 a0001c0002t0007g0014	3	250	0.0120	-28	c.361 others(43): Show c.361+965_361+992delAAAAAAAATATATATATATATATATATA	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	3/13			chr6	TogoVar
SGK3_chr8_66707781_66867022	66839498	GATATATA others(21): Show GATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03017.hp2 HG03669.hp2 others(4): Show HG02738.hp1 HG03017.hp2 HG03669.hp2 HG03688.hp1 HG04199.hp1 NA19002.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 others(4): Show a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0051 a0001c0002t0002g0052	7	142	0.0493	-28	c.742 others(43): Show c.742-472_742-445delATATATATATATATATATATATATATAT	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr8	TogoVar

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