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
STON2_chr14_81255652_81405324	81308792	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02523.hp1 HG02132.hp1 HG02523.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0080 a0003c0003t0003g0081 a0003c0003t0003g0080 a0003c0003t0003g0081	2	264	0.0076	-34	c.742 others(53): Show c.742+15191_742+15224delCATATATATATATATATATATATATA TATATATA	STON2	ENSG00000140022.14	transcript	ENST00000614646.5	protein_coding	5/7			chr14	TogoVar
STRA8_chr7_135228838_135263663	135237245	CCTAGGGA others(27): Show CCTAGGGAGGAGAGTTCCAGACTGTTTTCTCTACA	C C	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0212 a0001c0002t0002g0212	1	416	0.0024	-34	c.-6- others(49): Show c.-6-3271_-6-3238delAGGGAGGAGAGTTCCAGACTGTTTTCTCTA CACT	STRA8	ENSG00000146857.5	transcript	ENST00000662584.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
STRN_chr2_36832698_36971536	36845884	AACACACA others(27): Show AACACACACACACACACACACACGCATGCATGCAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG01168.hp1 HG01952.hp1 others(9): Show HG00323.hp2 HG01168.hp1 HG01952.hp1 HG02602.hp1 HG03239.hp1 HG03491.hp1 HG03834.hp1 HG03942.hp1 NA19007.hp1 NA19064.hp2 NA19066.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0032 a0001c0001t0036 others(6): Show a0001c0001t0031 a0001c0001t0032 a0001c0001t0036 a0001c0001t0105 a0001c0001t0138 a0001c0001t0144 a0001c0001t0169 a0001c0001t0172 a0001c0001t0190	a0001c0001t0031g0042 a0001c0001t0031g0045 a0001c0001t0032g0067 others(9): Show a0001c0001t0031g0042 a0001c0001t0031g0045 a0001c0001t0032g0067 a0001c0001t0032g0071 a0001c0001t0036g0070 a0001c0001t0036g0095 a0001c0001t0105g0100 a0001c0001t0138g0043 a0001c0001t0144g0046 a0001c0001t0169g0011 a0001c0001t0172g0074 a0001c0001t0190g0063	12	302	0.0397	-34	c.35 others(45): Show c.3538_*3571delGTGCATGCATGCGTGTGTGTGTGTGTGTGTGTGT	STRN	ENSG00000115808.13	transcript	ENST00000263918.9	protein_coding	18/18	3538		chr2	TogoVar
STX11_chr6_144145517_144196939	144155980	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19240.hp2 HG03471.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0048 a0001c0001t0019g0048	2	378	0.0053	-34	c.-6+ others(49): Show c.-6+5281_-6+5314delTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTCT	STX11	ENSG00000135604.11	transcript	ENST00000367568.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
STX2_chr12_130784600_130844250	130840981	GAGACAGA others(27): Show GAGACAGAGTCTTATTCTGTCTCCCAGACTGGAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	380	0.0026	-34	c.-19 others(45): Show c.-1916_-1883delACTCCAGTCTGGGAGACAGAATAAGACTCTGTCT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding		1732		chr12	TogoVar
STX6_chr1_180967725_181027870	181023070	TCTCTCTC others(27): Show TCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG02027.hp2 NA18959.hp2 others(1): Show HG00438.hp2 HG02027.hp2 NA18959.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0192 a0001c0001t0001g0194 others(1): Show a0001c0001t0001g0142 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0198	4	350	0.0114	-34	c.-43 others(43): Show c.-431_-398delGAGAGAGAGGAGAGAGAGGAGAGAGAGGAGAGAG	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		201		chr1	TogoVar
STXBP2_chr19_7632110_7652873	7644182	GCCTCGGA others(27): Show GCCTCGGAGAGGTGGGACCTGGGTGAGGTGTGGAA	G G	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0110 a0003c0006t0001g0110	1	428	0.0023	-34	c.110 others(51): Show c.1108-404_1108-371delTGTGGAACCTCGGAGAGGTGGGACCTGG GTGAGG	STXBP2	ENSG00000076944.18	transcript	ENST00000221283.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
STXBP3_chr1_108741674_108814523	108771586	ATATATAT others(27): Show ATATATATCATATATAAATATATATGATATATATC	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02129.hp2 HG02602.hp2 others(16): Show HG02027.hp1 HG02129.hp2 HG02602.hp2 HG02698.hp2 HG03669.hp2 HG03831.hp2 NA18940.hp1 NA18944.hp1 NA18951.hp2 NA18962.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19075.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19090.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0127 a0001c0001t0002g0129 others(13): Show a0001c0001t0002g0001 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148	19	334	0.0569	-34	c.439 others(51): Show c.439-1037_439-1004delCATATATAAATATATATGATATATATCT ATATAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP6_chr14_24804454_25055147	24826189	GTTAAAAA others(27): Show GTTAAAAAGCAAATTTTCTTCAACATACTTGCTAC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02280.hp2 HG02055.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0073 a0001c0001t0072 a0001c0001t0073	a0001c0001t0072g0009 a0001c0001t0073g0029 a0001c0001t0072g0009 a0001c0001t0073g0029	2	242	0.0083	-34	c.452 others(51): Show c.452-7029_452-6996delGTAGCAAGTATGTTGAAGAAAATTTGCT TTTTAA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	4/5			chr14	TogoVar
STYK1_chr12_10613923_10679052	10630032	GGAGAGAG others(27): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01433.hp1 others(7): Show HG01167.hp1 HG01169.hp1 HG01433.hp1 HG02630.hp2 HG02717.hp2 HG03098.hp2 HG03209.hp2 NA18522.hp2 NA19030.hp2 NA19240.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0007 a0002c0003t0006g0050 a0002c0003t0006g0118 others(6): Show a0002c0003t0006g0007 a0002c0003t0006g0050 a0002c0003t0006g0118 a0002c0003t0006g0119 a0002c0003t0006g0120 a0002c0003t0006g0121 a0002c0003t0006g0127 a0002c0003t0006g0128 a0002c0003t0006g0129	10	368	0.0272	-34	c.452 others(49): Show c.452-392_452-359delTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC	STYK1	ENSG00000060140.9	transcript	ENST00000075503.8	protein_coding	5/10			chr12	TogoVar
STYXL1_chr7_75991342_76053000	76046274	CTGTGTGT others(27): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0157 a0001c0002t0002g0157	1	356	0.0028	-34	c.-5+ others(49): Show c.-5+1354_-5+1387delCACACACACACACACACACACACACACACA CACA	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	76046315	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG02129.hp1 others(4): Show HG01257.hp1 HG01258.hp2 HG02129.hp1 NA18980.hp1 NA18998.hp1 NA19009.hp1 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0002 a0002c0004t0001 a0001c0002t0002 a0002c0004t0001	a0001c0002t0002g0039 a0001c0002t0002g0040 a0002c0004t0001g0326 others(4): Show a0001c0002t0002g0039 a0001c0002t0002g0040 a0002c0004t0001g0326 a0002c0004t0001g0327 a0002c0004t0001g0328 a0002c0004t0001g0329 a0002c0004t0001g0330	7	356	0.0197	-34	c.-5+ others(49): Show c.-5+1313_-5+1346delGCGCGCGCGCACACACACACACACACACAC ACAC	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	76046317	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0352 a0001c0003t0005g0352	1	356	0.0028	-34	c.-5+ others(49): Show c.-5+1311_-5+1344delGCGCGCGCGCGCACACACACACACACACAC ACAC	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8			chr7	TogoVar
STYXL2_chr1_167089075_167134165	167111485	TATATATA others(27): Show TATATATATATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0005 a0007c0008t0005	a0007c0008t0005g0219 a0007c0008t0005g0219	1	362	0.0028	-34	c.111 others(51): Show c.111-2223_111-2190delTATATATATATATATATATATATATATA CACACA	STYXL2	ENSG00000198842.10	transcript	ENST00000361200.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
STYXL2_chr1_167089075_167134165	167120829	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01074.hp2 HG02027.hp2 others(23): Show HG01069.hp1 HG01074.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02293.hp2 HG02451.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 NA18952.hp2 NA18970.hp2 NA19066.hp1 NA20300.hp2 NA21309.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0007 a0009	a0001c0001 a0001c0020 a0003c0003 others(4): Show a0001c0001 a0001c0020 a0003c0003 a0003c0027 a0006c0006 a0007c0013 a0009c0009	a0001c0001t0001 a0001c0020t0001 a0003c0003t0002 others(4): Show a0001c0001t0001 a0001c0020t0001 a0003c0003t0002 a0003c0027t0002 a0006c0006t0005 a0007c0013t0005 a0009c0009t0001	a0001c0001t0001g0022 a0001c0001t0001g0045 a0001c0001t0001g0075 others(20): Show a0001c0001t0001g0022 a0001c0001t0001g0045 a0001c0001t0001g0075 a0001c0001t0001g0098 a0001c0001t0001g0121 a0001c0001t0001g0156 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0020t0001g0259 a0003c0003t0002g0032 a0003c0003t0002g0036 a0003c0003t0002g0155 a0003c0003t0002g0249 a0003c0003t0002g0250 a0003c0003t0002g0251 a0003c0003t0002g0252 a0003c0003t0002g0279 a0003c0003t0002g0290 a0003c0027t0002g0036 a0006c0006t0005g0023 a0007c0013t0005g0065 a0009c0009t0001g0048	26	362	0.0718	-34	c.655 others(51): Show c.655+1387_655+1420delTATATATATATATATATATATATATATA TATATA	STYXL2	ENSG00000198842.10	transcript	ENST00000361200.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
SUGP2_chr19_18985893_19038517	19033040	TTCCCCAC others(27): Show TTCCCCACCTATGGAATGGGCAGCCAGTAAAGGGG	T T	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0021 a0007c0008t0001g0021	1	302	0.0033	-34	c.-12 others(49): Show c.-12+363_-12+396delCCCCTTTACTGGCTGCCCATTCCATAGGTG GGGA	SUGP2	ENSG00000064607.17	transcript	ENST00000452918.7	protein_coding	1/10			chr19	TogoVar
SUN1_chr7_827476_879934	866678	CCCCACTG others(27): Show CCCCACTGTCTCCCCACCATCTCCGTGGGCCTTCG	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0073	1	418	0.0024	-34	c.198 others(51): Show c.1980+615_1980+648delACTGTCTCCCCACCATCTCCGTGGGCCT TCGCCC	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUPT3H_chr6_44821726_45382934	45288579	ATATGTAT others(27): Show ATATGTATATATATATATGTGTATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02970.hp1 HG06807.hp2 others(2): Show HG02895.hp1 HG02970.hp1 HG06807.hp2 NA18522.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0091 others(2): Show a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0013g0058	5	262	0.0191	-34	c.101 others(53): Show c.101+76588_101+76621delCATATATATATATACACATATATATA TATACATA	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUSD3_chr9_93053701_93090133	93062900	CATCCTGG others(27): Show CATCCTGGCTGTGAGTTCGCTGTGAATCCTACGGA	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	340	0.0029	-34	c.88+ others(49): Show c.88+4101_88+4134delCGGAATCCTGGCTGTGAGTTCGCTGTGAAT CCTA	SUSD3	ENSG00000157303.11	transcript	ENST00000375472.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
SUSD4_chr1_223215831_223369176	223304793	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00738.hp1 HG01070.hp2 others(22): Show HG00597.hp2 HG00738.hp1 HG01070.hp2 HG01074.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01952.hp1 HG01981.hp2 HG02109.hp1 HG02155.hp1 HG02280.hp1 HG02602.hp2 HG02738.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG04115.hp2 NA18970.hp2 NA19043.hp1 NA19077.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0012 a0001c0001 a0001c0003 a0001c0012	a0001c0001t0001 a0001c0003t0002 a0001c0012t0001 a0001c0001t0001 a0001c0003t0002 a0001c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(21): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0112 a0001c0001t0001g0133 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0003t0002g0057 a0001c0012t0001g0081	25	276	0.0906	-34	c.149 others(53): Show c.149-12176_149-12143delATATATATATATATATATATATATAT ATATATAT	SUSD4	ENSG00000143502.16	transcript	ENST00000366878.9	protein_coding	2/8			chr1	TogoVar
SV2C_chr5_76078383_76338956	76223440	CATACATA others(27): Show CATACATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA19043.hp1 HG00735.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0048 a0001c0002t0093 a0001c0001t0048 a0001c0002t0093	a0001c0001t0048g0047 a0001c0002t0093g0205 a0001c0001t0048g0047 a0001c0002t0093g0205	2	234	0.0086	-34	c.913 others(53): Show c.913+13557_913+13590delCATATATATATATATATATATATATA TATATATA	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SVBP_chr1_42802052_42822397	42808137	GTGTGTGT others(27): Show GTGTGTGTGTGTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02280.hp1 HG03225.hp1 HG00639.hp2 HG02280.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186	3	394	0.0076	-34	c.115 others(49): Show c.115-671_115-638delTATATATATATATATATATATACACACACA CACA	SVBP	ENSG00000177868.12	transcript	ENST00000372521.9	protein_coding	2/2			chr1	TogoVar
SVEP1_chr9_110360248_110584741	110384574	TATTGCTA others(27): Show TATTGCTAATATGCACCAATTCACTTATTCTTCAA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01261.hp1 HG01978.hp2 others(33): Show HG01070.hp2 HG01261.hp1 HG01978.hp2 HG02004.hp1 HG02273.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03098.hp1 HG03490.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG04199.hp1 NA18612.hp1 NA18946.hp2 NA18951.hp2 NA18962.hp2 NA18980.hp1 NA18982.hp2 NA18988.hp2 NA18989.hp1 NA19002.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19088.hp1 NA20805.hp2	a0008 a0017 a0020 others(16): Show a0008 a0017 a0020 a0021 a0026 a0031 a0035 a0039 a0043 a0046 a0056 a0065 a0076 a0078 a0082 a0096 a0097 a0106 a0108	a0008c0008 a0017c0017 a0017c0064 others(18): Show a0008c0008 a0017c0017 a0017c0064 a0020c0024 a0021c0100 a0026c0113 a0026c0148 a0031c0033 a0035c0029 a0039c0067 a0043c0142 a0046c0101 a0056c0042 a0065c0065 a0076c0088 a0078c0095 a0082c0085 a0096c0112 a0097c0116 a0106c0109 a0108c0076	a0008c0008t0001 a0008c0008t0002 a0017c0017t0001 others(19): Show a0008c0008t0001 a0008c0008t0002 a0017c0017t0001 a0017c0064t0001 a0020c0024t0001 a0021c0100t0001 a0026c0113t0004 a0026c0148t0004 a0031c0033t0005 a0035c0029t0001 a0039c0067t0001 a0043c0142t0002 a0046c0101t0001 a0056c0042t0001 a0065c0065t0012 a0076c0088t0004 a0078c0095t0001 a0082c0085t0001 a0096c0112t0001 a0097c0116t0005 a0106c0109t0001 a0108c0076t0001	a0008c0008t0001g0067 a0008c0008t0001g0291 a0008c0008t0001g0354 others(33): Show a0008c0008t0001g0067 a0008c0008t0001g0291 a0008c0008t0001g0354 a0008c0008t0002g0194 a0008c0008t0002g0217 a0008c0008t0002g0224 a0017c0017t0001g0108 a0017c0017t0001g0248 a0017c0017t0001g0301 a0017c0017t0001g0302 a0017c0064t0001g0264 a0020c0024t0001g0032 a0020c0024t0001g0247 a0020c0024t0001g0356 a0021c0100t0001g0048 a0026c0113t0004g0105 a0026c0148t0004g0355 a0031c0033t0005g0043 a0031c0033t0005g0098 a0031c0033t0005g0099 a0035c0029t0001g0311 a0035c0029t0001g0312 a0035c0029t0001g0313 a0039c0067t0001g0141 a0043c0142t0002g0081 a0046c0101t0001g0191 a0056c0042t0001g0345 a0056c0042t0001g0346 a0065c0065t0012g0314 a0076c0088t0004g0069 a0078c0095t0001g0047 a0082c0085t0001g0258 a0096c0112t0001g0190 a0097c0116t0005g0065 a0106c0109t0001g0146 a0108c0076t0001g0223	36	362	0.0995	-34	c.102 others(55): Show c.10237+1290_10237+1323delTTGAAGAATAAGTGAATTGGTGCA TATTAGCAAT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	43/47			chr9	TogoVar
SVOPL_chr7_138589285_138706362	138637441	TAGATAGA others(27): Show TAGATAGATAGATAGATATATATATATAGATATAG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG01070.hp1 others(21): Show HG00423.hp2 HG00597.hp1 HG01070.hp1 HG01071.hp2 HG01993.hp2 HG02080.hp2 HG02148.hp1 HG02165.hp1 HG02683.hp1 HG02896.hp2 HG03239.hp1 HG03710.hp2 NA18941.hp2 NA18952.hp1 NA18953.hp1 NA18963.hp1 NA18973.hp1 NA18993.hp1 NA18999.hp2 NA19004.hp1 NA19005.hp2 NA19011.hp2 NA19060.hp2 NA19082.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0002c0003 a0002c0004 a0002c0006 a0004c0012	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0005t0002 a0001c0008t0001 a0002c0003t0005 a0002c0004t0001 a0002c0006t0002 a0004c0012t0001	a0001c0001t0001g0201 a0001c0001t0001g0216 a0001c0001t0001g0221 others(21): Show a0001c0001t0001g0201 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0260 a0001c0001t0001g0268 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0340 a0001c0001t0002g0349 a0001c0002t0001g0072 a0001c0005t0002g0023 a0001c0005t0002g0155 a0001c0005t0002g0161 a0001c0008t0001g0184 a0002c0003t0005g0031 a0002c0004t0001g0081 a0002c0004t0001g0194 a0002c0004t0001g0195 a0002c0006t0002g0032 a0002c0006t0002g0231 a0004c0012t0001g0300	24	360	0.0667	-34	c.789 others(51): Show c.789+7242_789+7275delCTATATCTATATATATATATCTATCTAT CTATCT	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	9/15			chr7	TogoVar
SWAP70_chr11_9659077_9757993	9675346	CGAGAGAG others(27): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03041.hp1 HG02896.hp1 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0010 a0002c0004t0001 a0001c0003t0010 a0002c0004t0001	a0001c0003t0010g0023 a0002c0004t0001g0026 a0001c0003t0010g0023 a0002c0004t0001g0026	2	294	0.0068	-34	c.99+ others(51): Show c.99+11110_99+11143delAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAG	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9705036	TTGGTGAT others(27): Show TTGGTGATCTGTATACACTGGTGATCTGTATACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(66): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00673.hp1 HG00733.hp2 HG00741.hp2 HG01070.hp2 HG01106.hp2 HG01109.hp1 HG01175.hp2 HG01258.hp1 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02071.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03834.hp2 HG03927.hp2 NA18522.hp1 NA18522.hp2 NA18942.hp2 NA18946.hp1 NA18965.hp2 NA18966.hp1 NA18972.hp1 NA18977.hp1 NA18983.hp1 NA18984.hp1 NA18998.hp2 NA19006.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19064.hp1 NA19068.hp1 NA19076.hp2 NA19078.hp1 NA19081.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0001c0008 a0002c0001 others(1): Show a0001c0007 a0001c0008 a0002c0001 a0002c0005	a0001c0007t0002 a0001c0008t0003 a0001c0008t0009 others(12): Show a0001c0007t0002 a0001c0008t0003 a0001c0008t0009 a0001c0008t0035 a0002c0001t0001 a0002c0001t0005 a0002c0001t0006 a0002c0001t0008 a0002c0001t0012 a0002c0001t0014 a0002c0001t0018 a0002c0001t0021 a0002c0001t0023 a0002c0001t0024 a0002c0005t0001	a0001c0007t0002g0090 a0001c0007t0002g0091 a0001c0007t0002g0292 others(66): Show a0001c0007t0002g0090 a0001c0007t0002g0091 a0001c0007t0002g0292 a0001c0008t0003g0056 a0001c0008t0009g0081 a0001c0008t0035g0058 a0002c0001t0001g0010 a0002c0001t0001g0031 a0002c0001t0001g0032 a0002c0001t0001g0034 a0002c0001t0001g0035 a0002c0001t0001g0036 a0002c0001t0001g0038 a0002c0001t0001g0039 a0002c0001t0001g0041 a0002c0001t0001g0042 a0002c0001t0001g0046 a0002c0001t0001g0054 a0002c0001t0001g0059 a0002c0001t0001g0061 a0002c0001t0001g0062 a0002c0001t0001g0063 a0002c0001t0001g0064 a0002c0001t0001g0065 a0002c0001t0001g0067 a0002c0001t0001g0068 a0002c0001t0001g0069 a0002c0001t0001g0073 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0076 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0080 a0002c0001t0001g0082 a0002c0001t0001g0083 a0002c0001t0001g0084 a0002c0001t0001g0100 a0002c0001t0001g0101 a0002c0001t0001g0102 a0002c0001t0001g0261 a0002c0001t0005g0085 a0002c0001t0005g0086 a0002c0001t0005g0087 a0002c0001t0005g0088 a0002c0001t0005g0089 a0002c0001t0005g0099 a0002c0001t0005g0251 a0002c0001t0006g0047 a0002c0001t0006g0048 a0002c0001t0006g0049 a0002c0001t0006g0050 a0002c0001t0006g0051 a0002c0001t0006g0052 a0002c0001t0006g0103 a0002c0001t0008g0097 a0002c0001t0008g0098 a0002c0001t0008g0246 a0002c0001t0012g0055 a0002c0001t0012g0057 a0002c0001t0012g0060 a0002c0001t0014g0238 a0002c0001t0014g0239 a0002c0001t0018g0033 a0002c0001t0021g0066 a0002c0001t0023g0053 a0002c0001t0024g0072 a0002c0005t0001g0249 a0002c0005t0001g0250	69	294	0.2347	-34	c.241 others(51): Show c.241-8416_241-8383delACACTGGTGATCTGTATACACTGGTGAT CTGTAT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWI5_chr9_128271276_128293989	128291978	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	386	0.0026	-34	c.32 others(45): Show c.3263_*3296delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SWI5	ENSG00000175854.15	transcript	ENST00000418976.3	protein_coding		2990		chr9	TogoVar
SYK_chr9_90796819_90903549	90857803	TCTGTCCA others(27): Show TCTGTCCATCTGCCCAGCCCACCTTAGCCACAGTG	T T	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0297 a0001c0003t0011g0297	1	376	0.0027	-34	c.579 others(51): Show c.579-4402_579-4369delCTGTCCATCTGCCCAGCCCACCTTAGCC ACAGTG	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	3/13			chr9	TogoVar
SYK_chr9_90796819_90903549	90892548	AAGAGGAA others(27): Show AAGAGGAAACACAACATCAGAGTCCTGCCCTGTGC	A A	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0344 a0001c0001t0015g0344	1	376	0.0027	-34	c.183 others(53): Show c.1836-2977_1836-2944delAGGAAACACAACATCAGAGTCCTGCC CTGTGCAG	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYN1_chrX_47566901_47624857	47584225	GATTGAGG others(27): Show GATTGAGGATGATCAGAGATTGAGGATGATCAGGT	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	282	0.0036	-34	c.775 others(51): Show c.775-6758_775-6725delACCTGATCATCCTCAATCTCTGATCATC CTCAAT	SYN1	ENSG00000008056.14	transcript	ENST00000295987.13	protein_coding	5/12			chrX	TogoVar
SYN3_chr22_32502820_33063381	32585898	ATATATGT others(27): Show ATATATGTGTATGTATACATATATGTGTATATACG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG00741.hp1 others(73): Show HG00621.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01978.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02145.hp1 HG02165.hp1 HG02258.hp2 HG02559.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02738.hp1 HG02818.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18957.hp1 NA18957.hp2 NA18969.hp1 NA18969.hp2 NA18984.hp1 NA18984.hp2 NA18995.hp1 NA19030.hp1 NA19063.hp2 NA19065.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0039 a0001c0001t0040 a0001c0001t0044 a0001c0001t0045 a0001c0001t0053 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0064 a0001c0001t0066 a0001c0001t0072 a0001c0001t0076 a0001c0001t0079 a0001c0003t0004 a0001c0003t0005 a0001c0003t0052 a0001c0004t0056 a0001c0005t0029 a0002c0002t0002 a0002c0002t0004 a0002c0002t0011 a0002c0002t0022 a0002c0002t0023 a0002c0002t0050	a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0029 others(73): Show a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0048 a0001c0001t0001g0086 a0001c0001t0001g0113 a0001c0001t0002g0007 a0001c0001t0002g0014 a0001c0001t0002g0024 a0001c0001t0002g0037 a0001c0001t0002g0072 a0001c0001t0002g0118 a0001c0001t0002g0182 a0001c0001t0003g0016 a0001c0001t0003g0125 a0001c0001t0003g0128 a0001c0001t0003g0151 a0001c0001t0006g0138 a0001c0001t0006g0177 a0001c0001t0007g0079 a0001c0001t0007g0082 a0001c0001t0007g0172 a0001c0001t0008g0047 a0001c0001t0008g0075 a0001c0001t0008g0133 a0001c0001t0008g0134 a0001c0001t0009g0019 a0001c0001t0011g0109 a0001c0001t0012g0053 a0001c0001t0012g0115 a0001c0001t0012g0173 a0001c0001t0013g0121 a0001c0001t0013g0135 a0001c0001t0015g0043 a0001c0001t0015g0132 a0001c0001t0018g0106 a0001c0001t0018g0146 a0001c0001t0021g0064 a0001c0001t0025g0044 a0001c0001t0027g0160 a0001c0001t0027g0184 a0001c0001t0028g0054 a0001c0001t0028g0124 a0001c0001t0029g0127 a0001c0001t0030g0015 a0001c0001t0031g0143 a0001c0001t0032g0150 a0001c0001t0039g0144 a0001c0001t0040g0153 a0001c0001t0044g0077 a0001c0001t0045g0068 a0001c0001t0053g0041 a0001c0001t0058g0180 a0001c0001t0059g0078 a0001c0001t0061g0034 a0001c0001t0064g0080 a0001c0001t0066g0052 a0001c0001t0072g0031 a0001c0001t0076g0069 a0001c0001t0079g0004 a0001c0003t0004g0040 a0001c0003t0004g0105 a0001c0003t0005g0098 a0001c0003t0052g0104 a0001c0004t0056g0021 a0001c0005t0029g0116 a0002c0002t0002g0085 a0002c0002t0004g0027 a0002c0002t0004g0110 a0002c0002t0004g0140 a0002c0002t0004g0152 a0002c0002t0011g0061 a0002c0002t0011g0102 a0002c0002t0022g0009 a0002c0002t0023g0164 a0002c0002t0050g0025	76	184	0.4130	-34	c.774 others(53): Show c.774+10742_774+10775delCGTATATACACATATATGTATACATA CACATATA	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	7/13			chr22	TogoVar
SYNE1_chr6_152116687_152642362	152604974	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0045 a0045	a0045c0041 a0045c0041	a0045c0041t0002 a0045c0041t0002	a0045c0041t0002g0089 a0045c0041t0002g0089	1	174	0.0058	-34	c.67+ others(51): Show c.67+23257_67+23290delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	3/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152605003	AGAAAGAG others(27): Show AGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA20300.hp1 HG02970.hp1 NA20300.hp1	a0012 a0053 a0012 a0053	a0012c0114 a0053c0067 a0012c0114 a0053c0067	a0012c0114t0002 a0053c0067t0003 a0012c0114t0002 a0053c0067t0003	a0012c0114t0002g0021 a0053c0067t0003g0020 a0012c0114t0002g0021 a0053c0067t0003g0020	2	174	0.0115	-34	c.67+ others(51): Show c.67+23228_67+23261delCCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTTTC	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	3/145			chr6	TogoVar
SYNE3_chr14_95402266_95521650	95423549	GGGCATGG others(27): Show GGGCATGGGGATTTGATGGGGATGAGGATTTGGTA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01168.hp2 HG01169.hp2 others(26): Show HG01109.hp2 HG01168.hp2 HG01169.hp2 HG02145.hp2 HG02622.hp2 HG03516.hp1 HG03927.hp2 NA18906.hp2 NA18940.hp2 NA18942.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18961.hp1 NA18964.hp1 NA18966.hp1 NA18970.hp2 NA18974.hp1 NA18981.hp1 NA18981.hp2 NA18988.hp1 NA18988.hp2 NA19005.hp2 NA19011.hp1 NA19082.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0031	a0001c0001 a0001c0085 a0002c0002 others(9): Show a0001c0001 a0001c0085 a0002c0002 a0002c0007 a0003c0004 a0003c0006 a0004c0003 a0004c0084 a0007c0043 a0008c0092 a0009c0033 a0031c0073	a0001c0001t0001 a0001c0001t0012 a0001c0001t0046 others(23): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0046 a0001c0001t0056 a0001c0001t0106 a0001c0085t0212 a0002c0002t0003 a0002c0002t0042 a0002c0002t0043 a0002c0002t0046 a0002c0002t0091 a0002c0002t0124 a0002c0002t0138 a0002c0002t0141 a0002c0002t0164 a0002c0007t0083 a0003c0004t0009 a0003c0004t0202 a0003c0006t0003 a0003c0006t0042 a0004c0003t0209 a0004c0084t0024 a0007c0043t0014 a0008c0092t0014 a0009c0033t0175 a0031c0073t0002	a0001c0001t0001g0264 a0001c0001t0012g0199 a0001c0001t0046g0063 others(26): Show a0001c0001t0001g0264 a0001c0001t0012g0199 a0001c0001t0046g0063 a0001c0001t0056g0281 a0001c0001t0056g0282 a0001c0001t0106g0029 a0001c0085t0212g0071 a0002c0002t0003g0025 a0002c0002t0003g0121 a0002c0002t0042g0214 a0002c0002t0043g0348 a0002c0002t0046g0287 a0002c0002t0091g0015 a0002c0002t0124g0066 a0002c0002t0138g0114 a0002c0002t0141g0101 a0002c0002t0164g0175 a0002c0007t0083g0007 a0003c0004t0009g0173 a0003c0004t0009g0327 a0003c0004t0202g0266 a0003c0006t0003g0341 a0003c0006t0042g0123 a0004c0003t0209g0240 a0004c0084t0024g0361 a0007c0043t0014g0295 a0008c0092t0014g0328 a0009c0033t0175g0342 a0031c0073t0002g0077	29	384	0.0755	-34	c.272 others(53): Show c.2728-5557_2728-5524delTACCAAATCCTCATCCCCATCAAATC CCCATGCC	SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	17/17			chr14	TogoVar
SYNE3_chr14_95402266_95521650	95423879	GGGTTTTG others(27): Show GGGTTTTGATGGGGATGGGGATTTGATGGGGATGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00735.hp1 others(93): Show HG00323.hp2 HG00408.hp1 HG00735.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01433.hp1 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02145.hp2 HG02293.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG03130.hp1 HG03209.hp1 HG03453.hp1 HG03491.hp1 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18940.hp2 NA18942.hp2 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18966.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18995.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19065.hp1 NA19070.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0015 a0016 a0022 a0024 a0029 a0031 a0036	a0001c0001 a0001c0011 a0001c0019 others(37): Show a0001c0001 a0001c0011 a0001c0019 a0001c0058 a0001c0085 a0001c0096 a0002c0002 a0002c0007 a0002c0015 a0002c0017 a0002c0038 a0002c0041 a0002c0056 a0003c0004 a0003c0006 a0003c0012 a0003c0098 a0004c0003 a0004c0005 a0004c0083 a0004c0084 a0005c0009 a0005c0010 a0005c0029 a0005c0034 a0006c0018 a0006c0025 a0006c0079 a0007c0013 a0007c0043 a0008c0008 a0008c0092 a0009c0033 a0015c0026 a0016c0030 a0022c0052 a0024c0097 a0029c0081 a0031c0073 a0036c0047	a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 others(83): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 a0001c0001t0046 a0001c0001t0049 a0001c0001t0056 a0001c0001t0106 a0001c0001t0114 a0001c0001t0155 a0001c0011t0169 a0001c0019t0098 a0001c0058t0010 a0001c0085t0212 a0001c0096t0050 a0002c0002t0003 a0002c0002t0015 a0002c0002t0042 a0002c0002t0043 a0002c0002t0046 a0002c0002t0053 a0002c0002t0089 a0002c0002t0091 a0002c0002t0124 a0002c0002t0138 a0002c0002t0141 a0002c0002t0164 a0002c0002t0183 a0002c0007t0002 a0002c0007t0032 a0002c0007t0083 a0002c0007t0182 a0002c0015t0051 a0002c0017t0031 a0002c0038t0002 a0002c0041t0190 a0002c0056t0180 a0003c0004t0009 a0003c0004t0031 a0003c0004t0052 a0003c0004t0112 a0003c0004t0121 a0003c0004t0123 a0003c0004t0126 a0003c0004t0186 a0003c0004t0202 a0003c0006t0003 a0003c0006t0016 a0003c0006t0042 a0003c0012t0191 a0003c0098t0059 a0004c0003t0001 a0004c0003t0004 a0004c0003t0027 a0004c0003t0028 a0004c0003t0111 a0004c0003t0209 a0004c0005t0027 a0004c0083t0004 a0004c0084t0024 a0005c0009t0001 a0005c0009t0021 a0005c0009t0108 a0005c0010t0049 a0005c0029t0069 a0005c0034t0021 a0005c0034t0113 a0006c0018t0004 a0006c0018t0103 a0006c0025t0018 a0006c0079t0088 a0007c0013t0015 a0007c0013t0181 a0007c0013t0184 a0007c0013t0199 a0007c0043t0014 a0008c0008t0006 a0008c0008t0142 a0008c0092t0014 a0009c0033t0175 a0015c0026t0028 a0016c0030t0176 a0022c0052t0095 a0024c0097t0178 a0029c0081t0090 a0031c0073t0002 a0036c0047t0050	a0001c0001t0001g0065 a0001c0001t0001g0261 a0001c0001t0001g0264 others(92): Show a0001c0001t0001g0065 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0012g0199 a0001c0001t0013g0147 a0001c0001t0046g0063 a0001c0001t0049g0023 a0001c0001t0056g0281 a0001c0001t0056g0282 a0001c0001t0106g0029 a0001c0001t0114g0024 a0001c0001t0155g0219 a0001c0011t0169g0078 a0001c0019t0098g0103 a0001c0058t0010g0166 a0001c0085t0212g0071 a0001c0096t0050g0314 a0002c0002t0003g0025 a0002c0002t0003g0121 a0002c0002t0015g0183 a0002c0002t0042g0214 a0002c0002t0043g0348 a0002c0002t0046g0287 a0002c0002t0053g0368 a0002c0002t0089g0200 a0002c0002t0091g0015 a0002c0002t0124g0066 a0002c0002t0138g0114 a0002c0002t0141g0101 a0002c0002t0164g0175 a0002c0002t0183g0158 a0002c0007t0002g0294 a0002c0007t0032g0259 a0002c0007t0083g0007 a0002c0007t0182g0347 a0002c0015t0051g0067 a0002c0015t0051g0107 a0002c0017t0031g0004 a0002c0038t0002g0084 a0002c0041t0190g0111 a0002c0056t0180g0318 a0003c0004t0009g0027 a0003c0004t0009g0173 a0003c0004t0009g0327 a0003c0004t0031g0018 a0003c0004t0052g0355 a0003c0004t0112g0356 a0003c0004t0121g0209 a0003c0004t0123g0331 a0003c0004t0126g0338 a0003c0004t0186g0344 a0003c0004t0202g0266 a0003c0006t0003g0341 a0003c0006t0016g0254 a0003c0006t0042g0123 a0003c0012t0191g0046 a0003c0098t0059g0262 a0004c0003t0001g0092 a0004c0003t0004g0064 a0004c0003t0004g0169 a0004c0003t0027g0218 a0004c0003t0028g0349 a0004c0003t0111g0143 a0004c0003t0209g0240 a0004c0005t0027g0354 a0004c0083t0004g0010 a0004c0084t0024g0361 a0005c0009t0001g0378 a0005c0009t0021g0141 a0005c0009t0108g0012 a0005c0010t0049g0155 a0005c0029t0069g0319 a0005c0034t0021g0336 a0005c0034t0113g0323 a0006c0018t0004g0136 a0006c0018t0103g0022 a0006c0025t0018g0197 a0006c0079t0088g0049 a0007c0013t0015g0119 a0007c0013t0181g0365 a0007c0013t0184g0210 a0007c0013t0199g0291 a0007c0043t0014g0295 a0008c0008t0006g0185 a0008c0008t0006g0230 a0008c0008t0142g0260 a0008c0092t0014g0328 a0009c0033t0175g0342 a0015c0026t0028g0001 a0016c0030t0176g0076 a0022c0052t0095g0248 a0024c0097t0178g0125 a0029c0081t0090g0055 a0031c0073t0002g0077 a0036c0047t0050g0079	96	384	0.2500	-34	c.272 others(53): Show c.2728-5887_2728-5854delTCATCCCCATCAAATCCCCATCCCCA TCAAAACC	SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	17/17			chr14	TogoVar
SYNGR2_chr17_78163581_78177720	78177601	TCTCGCTC others(27): Show TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	450	0.0022	-34	c.56 others(45): Show c.5666_*5699delCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG	SYNGR2	ENSG00000108639.8	transcript	ENST00000225777.8	protein_coding		4882		chr17	TogoVar
SYNPR_chr3_63273308_63621924	63313788	TATATATA others(27): Show TATATATATCCATATATATATCCATATATATATCC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0171 a0001c0001t0005g0171	1	246	0.0041	-34	c.84+ others(51): Show c.84+35055_84+35088delCCATATATATATCCATATATATATCCAT ATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYT16_chr14_61807703_62117550	62092173	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0063 a0002c0003t0063	a0002c0003t0063g0140 a0002c0003t0063g0140	1	174	0.0058	-34	c.162 others(53): Show c.1624+7809_1624+7842delACACACACACACACACACACACACAC ACACACAC	SYT16	ENSG00000139973.18	transcript	ENST00000683842.1	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYT17_chr16_19163240_19273332	19252460	TATATATA others(27): Show TATATATATACATATATATATACATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03486.hp2 others(2): Show HG02896.hp2 HG02897.hp2 HG03486.hp2 HG03579.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0257 a0001c0001t0009g0259 a0001c0001t0009g0260 others(2): Show a0001c0001t0009g0257 a0001c0001t0009g0259 a0001c0001t0009g0260 a0001c0001t0009g0272 a0001c0001t0009g0285	5	324	0.0154	-34	c.122 others(55): Show c.1229-14410_1229-14377delCATATATATATACATATATATATA CATATATATA	SYT17	ENSG00000103528.17	transcript	ENST00000355377.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
SYT1_chr12_78859774_79457008	78973926	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	62	0.0161	-34	c.-21 others(53): Show c.-216-3871_-216-3838delAAAAAAAAAAAATATATATATATATA TATATATA	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
SYT1_chr12_78859774_79457008	78973928	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0015 a0001c0002t0012g0015	1	62	0.0161	-34	c.-21 others(53): Show c.-216-3869_-216-3836delAAAAAAAAAATATATATATATATATA TATATATA	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
SYT1_chr12_78859774_79457008	78973930	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01261.hp1 NA18952.hp1 HG00621.hp2 HG01261.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0016 a0001c0002t0004 a0001c0001t0001 a0001c0001t0016 a0001c0002t0004	a0001c0001t0001g0046 a0001c0001t0016g0037 a0001c0002t0004g0028 a0001c0001t0001g0046 a0001c0001t0016g0037 a0001c0002t0004g0028	3	62	0.0484	-34	c.-21 others(53): Show c.-216-3867_-216-3834delAAAAAAAATATATATATATATATATA TATATATA	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
SYT1_chr12_78859774_79457008	78973932	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02559.hp2 HG02717.hp2 others(2): Show HG02074.hp2 HG02559.hp2 HG02717.hp2 NA18906.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0004 a0001c0001t0001 a0001c0001t0007 a0001c0002t0004	a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0007g0024 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0007g0024 a0001c0001t0007g0030 a0001c0002t0004g0051	5	62	0.0807	-34	c.-21 others(53): Show c.-216-3865_-216-3832delAAAAAATATATATATATATATATATA TATATATA	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
SYT1_chr12_78859774_79457008	78973938	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0016 a0001c0001t0009g0016	1	62	0.0161	-34	c.-21 others(53): Show c.-216-3844_-216-3811delATATATATATATATATATATATATAT ATATATAT	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
SYT1_chr12_78859774_79457008	79117662	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02486.hp1 HG02897.hp2 others(5): Show HG01978.hp2 HG02486.hp1 HG02897.hp2 HG02965.hp2 HG03516.hp1 HG03704.hp2 NA18906.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0002t0001 a0001c0002t0005 a0001c0002t0018	a0001c0001t0001g0050 a0001c0001t0003g0040 a0001c0001t0005g0042 others(5): Show a0001c0001t0001g0050 a0001c0001t0003g0040 a0001c0001t0005g0042 a0001c0001t0008g0032 a0001c0001t0010g0014 a0001c0002t0001g0029 a0001c0002t0005g0018 a0001c0002t0018g0044	8	62	0.1290	-34	c.-18 others(53): Show c.-18+70320_-18+70353delTATATATATATATATATATATATATA TATATATA	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
SYT2_chr1_202585596_202715454	202667466	CGTGTGTG others(27): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0008 a0001c0003t0006g0008	1	276	0.0036	-34	c.-18 others(53): Show c.-18+42758_-18+42791delACACACACACACACACACACACACAC ACACACAC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT5_chr19_55166196_55185289	55166806	GGAAGGGG others(27): Show GGAAGGGGCGGTGCTAGAACAGGTTGGGGCGGAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0106 a0001c0001t0070g0106	1	410	0.0024	-34	c.66 others(45): Show c.6644_*6677delACTCCGCCCCAACCTGTTCTAGCACCGCCCCTTC	SYT5	ENSG00000129990.15	transcript	ENST00000354308.8	protein_coding		4389		chr19	TogoVar
SYTL2_chr11_85689229_85816141	85730502	ATCTCAAT others(27): Show ATCTCAATAGATGCAGAAAAGGCCTTCGAAAAAAT	A A	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0031 a0031	a0031c0037 a0031c0037	a0031c0037t0002 a0031c0037t0002	a0031c0037t0002g0215 a0031c0037t0002g0215	1	366	0.0027	-34	c.139 others(53): Show c.1391-2569_1391-2536delATTTTTTCGAAGGCCTTTTCTGCATC TATTGAGA	SYTL2	ENSG00000137501.18	transcript	ENST00000359152.10	protein_coding	7/19			chr11	TogoVar
SYTL2_chr11_85689229_85816141	85789338	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0081 a0002c0002t0002g0081	1	366	0.0027	-34	c.-39 others(55): Show c.-390+21582_-390+21615delTATATATATATATATATATATATA TATATATACA	SYTL2	ENSG00000137501.18	transcript	ENST00000359152.10	protein_coding	1/19			chr11	TogoVar
TACR1_chr2_75041463_75204520	75154453	CTGAAGAA others(27): Show CTGAAGAAACCCAGTGGAGATTCAGCACTAACCCA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01175.hp1 HG01123.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0050 a0001c0002t0003g0223 a0001c0001t0003g0050 a0001c0002t0003g0223	2	282	0.0071	-34	c.390 others(53): Show c.390-33719_390-33686delTGGGTTAGTGCTGAATCTCCACTGGG TTTCTTCA	TACR1	ENSG00000115353.11	transcript	ENST00000305249.10	protein_coding	1/4			chr2	TogoVar

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