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
SRGAP2B_chr1_144882288_145100328	144883183	G G	GCCGCGGC others(39): Show GCCGCGGCGGGGGGGCAAAAAGCCTCGGCCGCGTGGGGGCAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00673.hp1 HG01109.hp2 others(15): Show HG00280.hp2 HG00673.hp1 HG01109.hp2 HG01258.hp1 HG01346.hp1 HG02015.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02257.hp2 HG02602.hp1 HG02602.hp2 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0009 a0001c0001 a0002c0002 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 a0002c0002t0001 a0002c0002t0010 a0002c0002t0011 a0004c0009t0003	a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0026 others(15): Show a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0052 a0001c0001t0002g0002 a0001c0001t0002g0035 a0001c0001t0003g0016 a0001c0001t0008g0005 a0001c0001t0015g0010 a0002c0002t0001g0031 a0002c0002t0001g0042 a0002c0002t0010g0023 a0002c0002t0011g0028 a0004c0009t0003g0014	18	56	0.3214	46	c.89 others(57): Show c.8976_*8977insGTTTTTTGCCCCCACGCGGCCGAGGCTTTTTGCC CCCCCGCCGCGG	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		4104		chr1	TogoVar
SRMS_chr20_63533489_63552749	63535752	A A	ACCTGGCC others(39): Show ACCTGGCCTCCCGCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 NA19030.hp1 HG02145.hp1 NA19030.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0002 a0012c0015t0002	a0012c0015t0002g0037 a0012c0015t0002g0037	2	356	0.0056	46	c.50 others(57): Show c.5065_*5066insAGAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGG CGGGAGGCCAGG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2736		chr20	TogoVar
SRMS_chr20_63533489_63552749	63535800	C C	CCTGGCCT others(39): Show CCTGGCCTCCCGCCCCCCCCTCATCTGGCCTCCCGCCCCCCCCTCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0002 a0011c0014t0002	a0011c0014t0002g0031 a0011c0014t0002g0031	1	356	0.0028	46	c.50 others(57): Show c.5017_*5018insATGAGGGGGGGGCGGGAGGCCAGATGAGGGGGGG GCGGGAGGCCAG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2688		chr20	TogoVar
SRP54_chr14_34977992_35034567	34988582	T T	TATATATA others(39): Show TATATATATATATATATATATCATATATATATATATATATATATAAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG01109.hp2 others(13): Show HG00140.hp1 HG00735.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01934.hp1 HG01981.hp1 HG02004.hp1 HG03017.hp1 HG03491.hp2 HG03492.hp2 HG03831.hp1 HG06807.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 others(13): Show a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0074	16	396	0.0404	46	c.-34 others(63): Show c.-34+5380_-34+5381insTATATATCATATATATATATATATATAT ATAACATATATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34988595	A A	ATATCATA others(39): Show ATATCATATATATATATATATATATATATAACATATATATATATAAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0081 a0001c0001t0004g0081	1	396	0.0025	46	c.-34 others(63): Show c.-34+5380_-34+5381insTATCATATATATATATATATATATATAT AACATATATATATATAAC	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15			chr14	TogoVar
SSC4D_chr7_76384337_76414697	76405319	A A	ATATATAT others(39): Show ATATATATATATATATATATGTATGTATTTTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0300 a0001c0005t0001g0300	1	388	0.0026	46	c.-66 others(61): Show c.-66-815_-66-814insGAAAGAAAGAAAGAAAAAAATACATACATA TATATATATATATATA	SSC4D	ENSG00000146700.9	transcript	ENST00000275560.4	protein_coding	1/10			chr7	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0099 a0002c0003t0002g0099	1	412	0.0024	46	c.138 others(63): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATATATATTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	412	0.0024	46	c.138 others(63): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATATATTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0002 a0003c0011t0002	a0003c0011t0002g0020 a0003c0011t0002g0020	1	412	0.0024	46	c.138 others(63): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
ST14_chr11_130154782_130215362	130193838	C C	CAAAGGTG others(39): Show CAAAGGTGAACTGTTTATCACTAGCGCCTTCCATCAGTGATTGTGAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02922.hp1 HG02818.hp1 HG02922.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0147 a0006c0014t0001g0256 a0006c0014t0001g0147 a0006c0014t0001g0256	2	292	0.0069	46	c.876 others(61): Show c.876-266_876-265insTAAAGGTGAACTGTTTATCACTAGCGCCTT CCATCAGTGATTGTGA	ST14	ENSG00000149418.11	transcript	ENST00000278742.6	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76278192	G G	GTATCATG others(39): Show GTATCATGTACTCTCCACTTGATCTTAGCCAAAAGGCCGAGAAGCGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01192.hp1 HG01255.hp2 others(29): Show HG00639.hp2 HG01192.hp1 HG01255.hp2 HG01891.hp1 HG01891.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03540.hp2 NA18522.hp1 NA19030.hp2 NA19043.hp1 NA19060.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0028 a0001c0003t0003 a0001c0003t0005 a0001c0003t0022 a0002c0002t0001 a0002c0002t0013 a0002c0002t0014 a0003c0005t0001	a0001c0001t0002g0011 a0001c0001t0002g0034 a0001c0001t0002g0047 others(29): Show a0001c0001t0002g0011 a0001c0001t0002g0034 a0001c0001t0002g0047 a0001c0001t0002g0068 a0001c0001t0002g0080 a0001c0001t0003g0013 a0001c0001t0004g0094 a0001c0001t0006g0005 a0001c0001t0006g0087 a0001c0001t0006g0093 a0001c0001t0010g0063 a0001c0001t0017g0010 a0001c0001t0020g0097 a0001c0001t0021g0065 a0001c0001t0023g0067 a0001c0001t0028g0006 a0001c0003t0003g0040 a0001c0003t0003g0092 a0001c0003t0005g0016 a0001c0003t0005g0071 a0001c0003t0005g0074 a0001c0003t0022g0020 a0002c0002t0001g0002 a0002c0002t0001g0012 a0002c0002t0001g0033 a0002c0002t0001g0045 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0053 a0002c0002t0013g0042 a0002c0002t0014g0084 a0003c0005t0001g0008	32	102	0.3137	46	c.19- others(63): Show c.19-35604_19-35603insCTCTCCACTTGATCTTAGCCAAAAGGCC GAGAAGCGATATCATGTA	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76525797	A A	ATATATAT others(39): Show ATATATATATATACATATATATATATACATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0100 a0001c0001t0012g0100	1	102	0.0098	46	c.624 others(67): Show c.624-101643_624-101642insCATATATATATATACATATATATA TATATATACGTATATATATATA	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
STAM2_chr2_152111801_152180763	152159110	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATACATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0044 a0001c0001t0009g0044	1	360	0.0028	46	c.41- others(61): Show c.41-8882_41-8881insGTATATGTATATATATATATATATATATAT ATATATATATATATAT	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding	1/13			chr2	TogoVar
STAM2_chr2_152111801_152180763	152159110	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0046 a0001c0001t0009g0046	1	360	0.0028	46	c.41- others(61): Show c.41-8882_41-8881insGTATATATATATATATATATATATATATAT ATATATATATATATAT	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding	1/13			chr2	TogoVar
STAU1_chr20_49108339_49193334	49108481	T T	TACACACA others(39): Show TACACACACACACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18970.hp1 NA18950.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0066 a0001c0001t0003g0043 a0001c0001t0003g0066	2	366	0.0055	46	c.63 others(57): Show c.6396_*6397insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding		4857		chr20	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0183 a0003c0003t0002g0183	1	384	0.0026	46	c.762 others(65): Show c.762+35592_762+35593insAAAAAAAAAAAATATATATATATATA TATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	384	0.0026	46	c.762 others(65): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAATATATATATA TATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	384	0.0026	46	c.762 others(65): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAATATATATA TATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0235 a0002c0002t0002g0235	1	384	0.0026	46	c.762 others(65): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAAAATATATA TATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22464948	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00544.hp2 others(15): Show HG00140.hp1 HG00438.hp1 HG00544.hp2 HG00738.hp1 HG01496.hp1 HG02129.hp1 HG02280.hp2 HG03195.hp2 HG04199.hp1 NA18950.hp1 NA18951.hp1 NA18959.hp2 NA18971.hp1 NA18979.hp1 NA18987.hp2 NA19002.hp2 NA19030.hp1 NA19079.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0004c0004t0003 a0005c0005t0001	a0001c0001t0001g0047 a0001c0001t0001g0080 a0001c0001t0001g0087 others(15): Show a0001c0001t0001g0047 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0002g0014 a0001c0001t0002g0040 a0001c0001t0002g0135 a0001c0001t0002g0142 a0002c0002t0001g0009 a0002c0002t0002g0225 a0002c0002t0002g0263 a0002c0002t0002g0266 a0002c0002t0002g0288 a0002c0002t0002g0301 a0002c0002t0002g0302 a0004c0004t0003g0006 a0005c0005t0001g0356	18	384	0.0469	46	c.762 others(65): Show c.762+27616_762+27617insATATATATATATATATATATATATAT ATATATATATATATATATAT	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STIM1_chr11_3850664_4098208	3941673	T T	TATATATA others(39): Show TATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0013 a0001c0001t0011g0013	1	300	0.0033	46	c.140 others(65): Show c.140-25878_140-25877insTATATATATATATATATATAGAGAGA GAGAGAGAGAGAGAGAGAGA	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STK24_chr13_98440185_98582107	98494412	C C	CAAAAAAA others(39): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0318 a0001c0001t0088g0318	1	322	0.0031	46	c.274 others(65): Show c.274-12092_274-12091insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	2/10			chr13	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0113 a0003c0003t0001g0113	1	404	0.0025	46	c.483 others(63): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATATATATATATTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0083 a0003c0003t0001g0083	1	404	0.0025	46	c.483 others(63): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK33_chr11_8386870_8599228	8418792	G G	GGTGTGAG others(39): Show GGTGTGAGATGGTATCTCACTGTGGTCTTGATTTGAATTTCTCTAAT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	334	0.0030	46	c.114 others(65): Show c.1147-5146_1147-5101dupATTAGAGAAATTCAAATCAAGACCAC AGTGAGATACCATCTCACAC	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	14/15			chr11	TogoVar
STK33_chr11_8386870_8599228	8439869	T T	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0182 a0001c0002t0001g0182	1	334	0.0030	46	c.947 others(61): Show c.947+808_947+809insTATATATATATATATATATATATATATATA TATATATATATATATA	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	12/15			chr11	TogoVar
STK33_chr11_8386870_8599228	8557286	G G	GGAGGGGA others(39): Show GGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAGAGGAGAGAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01070.hp1 HG01071.hp2 others(47): Show HG00621.hp2 HG01070.hp1 HG01071.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG01943.hp2 HG02071.hp2 HG02083.hp1 HG02165.hp2 HG02523.hp2 HG02698.hp1 HG02738.hp1 HG03017.hp1 HG03492.hp1 HG03927.hp1 NA18942.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18965.hp2 NA18969.hp1 NA18972.hp1 NA18979.hp2 NA18980.hp2 NA18989.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19003.hp2 NA19007.hp1 NA19058.hp1 NA19058.hp2 NA19068.hp2 NA19074.hp2 NA19076.hp2 NA19081.hp1 NA19082.hp1 NA19086.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0002c0003t0006 others(1): Show a0001c0002t0001 a0002c0003t0001 a0002c0003t0006 a0002c0003t0023	a0001c0002t0001g0265 a0001c0002t0001g0268 a0001c0002t0001g0270 others(47): Show a0001c0002t0001g0265 a0001c0002t0001g0268 a0001c0002t0001g0270 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0286 a0001c0002t0001g0290 a0001c0002t0001g0292 a0001c0002t0001g0299 a0001c0002t0001g0304 a0001c0002t0001g0310 a0002c0003t0001g0266 a0002c0003t0001g0277 a0002c0003t0001g0278 a0002c0003t0001g0279 a0002c0003t0001g0280 a0002c0003t0001g0284 a0002c0003t0001g0287 a0002c0003t0001g0288 a0002c0003t0001g0289 a0002c0003t0001g0291 a0002c0003t0001g0293 a0002c0003t0001g0294 a0002c0003t0001g0295 a0002c0003t0001g0296 a0002c0003t0001g0297 a0002c0003t0001g0300 a0002c0003t0001g0305 a0002c0003t0001g0306 a0002c0003t0001g0307 a0002c0003t0001g0308 a0002c0003t0001g0309 a0002c0003t0001g0311 a0002c0003t0001g0313 a0002c0003t0001g0326 a0002c0003t0006g0256 a0002c0003t0006g0257 a0002c0003t0006g0258 a0002c0003t0006g0267 a0002c0003t0006g0269 a0002c0003t0006g0271 a0002c0003t0006g0272 a0002c0003t0006g0281 a0002c0003t0006g0282 a0002c0003t0006g0283 a0002c0003t0006g0301 a0002c0003t0006g0303 a0002c0003t0006g0328 a0002c0003t0023g0325	50	334	0.1497	46	c.-46 others(67): Show c.-466+36796_-466+36797insTTCTCTCCTCTCCCTTCCCTTCCC TCCCCTCCCCTCCCCTCCCCTC	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STK33_chr11_8386870_8599228	8557288	A A	AGGGGAGG others(39): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0149 a0001c0001t0021g0149	1	334	0.0030	46	c.-46 others(67): Show c.-466+36794_-466+36795insCTTCCCTTCCCTTCCCTTCCCTCC CCTCCCCTCCCCTCCCCTCCCC	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STON1_chr2_48525154_48603513	48564644	C C	CCTTCTTC others(39): Show CCTTCTTCTTCTTCTTTCTTATTTCTTCTTCTTCTTCTTCCTTCTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03486.hp2 HG03139.hp1 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0046 a0001c0003t0002g0205 a0001c0003t0002g0046 a0001c0003t0002g0205	2	376	0.0053	46	c.-47 others(65): Show c.-47-15927_-47-15882dupTCTTATTTCTTCTTCTTCTTCTTCCT TCTTTCTTCTTCTTCTTCTT	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STPG4_chr2_47081991_47160308	47092531	A A	AAAAAGAA others(39): Show AAAAAGAAAAGAAAAGGGGAGGGGAGGGAGAAAGGGAGGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03927.hp2 HG01993.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0241 a0001c0001t0001g0106 a0001c0001t0001g0241	2	352	0.0057	46	c.520 others(63): Show c.520-2158_520-2157insCTCCCTCCCCTCCCTTTCTCCCTCCCCT CCCCTTTTCTTTTCTTTT	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding	5/6			chr2	TogoVar
STRADA_chr17_63697832_63746799	63739776	A A	ATATATTA others(39): Show ATATATTATATATGTACATATATACATATAATGTACATAATTATATG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG02717.hp1 others(7): Show HG02451.hp1 HG02559.hp1 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG02965.hp2 NA19086.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0199 a0001c0001t0001g0225 a0001c0001t0001g0226 others(7): Show a0001c0001t0001g0199 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0297 a0001c0001t0001g0305 a0001c0001t0003g0171	10	324	0.0309	46	c.-45 others(63): Show c.-45+1964_-45+1965insCATATAATTATGTACATTATATGTATAT ATGTACATATATAATATA	STRADA	ENSG00000266173.7	transcript	ENST00000336174.12	protein_coding	1/12			chr17	TogoVar
STRIP2_chr7_129429432_129493399	129476214	C C	CGGGGCGG others(39): Show CGGGGCGGCTGGCCGGGCGGGGGCTGCCCCCCACCTCCCTCCCGGGT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02647.hp2 HG02723.hp1 others(7): Show HG01361.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02976.hp2 HG03225.hp1 HG03540.hp1 HG03579.hp2 NA19000.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0025 a0001c0001t0034 a0001c0001t0035	a0001c0001t0002g0177 a0001c0001t0002g0198 a0001c0001t0002g0199 others(7): Show a0001c0001t0002g0177 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0238 a0001c0001t0003g0035 a0001c0001t0015g0282 a0001c0001t0015g0285 a0001c0001t0025g0283 a0001c0001t0034g0088 a0001c0001t0035g0087	10	346	0.0289	46	c.194 others(65): Show c.1945-4526_1945-4525insTGGGGCGGCTGGCCGGGCGGGGGCTG CCCCCCACCTCCCTCCCGGG	STRIP2	ENSG00000128578.10	transcript	ENST00000249344.7	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0327 a0003c0003t0003g0327	1	380	0.0026	46	c.205 others(63): Show c.205+3503_205+3504insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STXBP4_chr17_54963765_55178632	54997555	A A	AATATATA others(39): Show AATATATATATTATATAATATAAATATATATATATTTTATATATTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0040 a0001c0001t0063g0040	1	378	0.0027	46	c.181 others(63): Show c.181-1779_181-1734dupTATATAATATAAATATATATATATTTTA TATATTTTATATATATAT	STXBP4	ENSG00000166263.13	transcript	ENST00000376352.6	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
SULT4A1_chr22_43819509_43867513	43831288	C C	CGGCAGCT others(39): Show CGGCAGCTGCCCCCGAGATGTGTGGGCAGCTGCCCCCGAGATGTGTG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	386	0.0026	46	c.604 others(63): Show c.604-2091_604-2090insCACACATCTCGGGGGCAGCTGCCCACAC ATCTCGGGGGCAGCTGCC	SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding	5/6			chr22	TogoVar
SUMF1_chr3_4356146_4472269	4384000	G G	GTTATTAT others(39): Show GTTATTATTGCTTTAAACAATAATTGACCATTATTTAAACAAAATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG01099.hp2 others(2): Show HG00280.hp1 HG00642.hp2 HG01099.hp2 HG01261.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0223 a0001c0001t0008g0078 a0001c0001t0008g0221 others(2): Show a0001c0001t0002g0223 a0001c0001t0008g0078 a0001c0001t0008g0221 a0001c0001t0008g0272 a0001c0001t0008g0313	5	392	0.0128	46	c.955 others(63): Show c.955-7612_955-7611insATATTTTGTTTAAATAATGGTCAATTAT TGTTTAAAGCAATAATAA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	7/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4457051	C C	CGTGTGTA others(39): Show CGTGTGTATATATATATATACGTGTGTGTATATATATATATATACGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03834.hp1 HG02280.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0076 a0001c0002t0001g0077 a0001c0001t0001g0076 a0001c0002t0001g0077	2	392	0.0051	46	c.271 others(63): Show c.271-4003_271-4002insACGTATATATATATATATACACACACGT ATATATATATATACACAC	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUN5_chr20_32978775_33009433	33001544	T T	TTCTTTCT others(39): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	382	0.0026	46	c.212 others(61): Show c.212-267_212-266insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGA	SUN5	ENSG00000167098.12	transcript	ENST00000356173.8	protein_coding	3/12			chr20	TogoVar
SUPT3H_chr6_44821726_45382934	45230660	G G	GCATATAT others(39): Show GCATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0174 a0001c0001t0004g0174	1	262	0.0038	46	c.102 others(67): Show c.102-124655_102-124654insTATATATATATATATATATATATA TATATATATATATATATATATG	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45376870	T T	TACATATA others(39): Show TACATATACTTATATACACACATATGTATATACATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0051 a0001c0001t0005g0051	1	262	0.0038	46	c.-1+ others(59): Show c.-1+852_-1+897dupGTGTGTATATATATGTATATACATATGTGTGT ATATAAGTATATGT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	1/10			chr6	TogoVar
SUPT6H_chr17_28657205_28707679	28663828	A A	ATTTTTTT others(39): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19030.hp2 NA19043.hp1 NA18955.hp2 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0198 a0001c0003t0001g0196 a0001c0003t0001g0197 a0001c0001t0001g0198 a0001c0003t0001g0196 a0001c0003t0001g0197	3	236	0.0127	46	c.-32 others(63): Show c.-32+1503_-32+1504insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	SUPT6H	ENSG00000109111.15	transcript	ENST00000314616.11	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr17	TogoVar
SUSD1_chr9_112035783_112180297	112138240	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATGTATATACAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	338	0.0030	46	c.706 others(63): Show c.706+4079_706+4080insGTGTATATACATATATATATATATATAT ATATATATATATATATAT	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	5/16			chr9	TogoVar
SVIL_chr10_29452338_29639971	29506634	T T	TGGAGGGA others(39): Show TGGAGGGAGGGGACAGAGGCCCTATGAGGGAGGGGACAGAGGCCTTA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0010 a0010	a0010c0048 a0010c0048	a0010c0048t0001 a0010c0048t0001	a0010c0048t0001g0152 a0010c0048t0001g0152	1	290	0.0035	46	c.351 others(65): Show c.3516+6100_3516+6101insTAAGGCCTCTGTCCCCTCCCTCATAG GGCCTCTGTCCCCTCCCTCC	SVIL	ENSG00000197321.16	transcript	ENST00000355867.9	protein_coding	17/37			chr10	TogoVar
SYCE1L_chr16_77194408_77218215	77205433	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATGTAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0151 a0002c0003t0001g0151	1	442	0.0023	46	c.62- others(59): Show c.62-992_62-991insATATATATATATATATATATATATATGTATAT ATATATATATATAT	SYCE1L	ENSG00000205078.6	transcript	ENST00000378644.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03486.hp1 HG02630.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0204 a0001c0001t0001g0205	2	426	0.0047	46	c.236 others(61): Show c.236-828_236-827insAAAAAAAAAATATATATATATATATATATA TATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	426	0.0024	46	c.236 others(61): Show c.236-828_236-827insAAAAAAAAAAAAAAAATATATATATATATA TATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYK_chr9_90796819_90903549	90884150	T T	TGTGTATA others(39): Show TGTGTATATATATATATACACATACGTGTATACACACATACACATAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03195.hp2 HG03209.hp1 HG02818.hp2 HG03195.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0054 a0001c0001t0001 a0001c0001t0012 a0001c0001t0054	a0001c0001t0001g0184 a0001c0001t0012g0374 a0001c0001t0054g0225 a0001c0001t0001g0184 a0001c0001t0012g0374 a0001c0001t0054g0225	3	376	0.0080	46	c.158 others(65): Show c.1582-3588_1582-3587insTATATACACATACGTGTATACACACA TACACATACGTGTATATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884614	C C	CATGTGTA others(39): Show CATGTGTACATGTACATATATACACATACACATGTGTACATGTACAT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0246 a0001c0003t0008g0246	1	376	0.0027	46	c.158 others(65): Show c.1582-3133_1582-3132insGTGTACATGTACATATATACACATAC ACATGTGTACATGTACATAT	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYN3_chr22_32502820_33063381	32758681	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01106.hp1 HG01258.hp1 others(5): Show HG01069.hp2 HG01106.hp1 HG01258.hp1 HG02145.hp2 HG02976.hp2 HG04228.hp2 NA19043.hp1 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0027 a0001c0001t0072 a0001c0004t0036 a0002c0002t0002 a0002c0002t0046	a0001c0001t0001g0117 a0001c0001t0006g0073 a0001c0001t0011g0109 others(5): Show a0001c0001t0001g0117 a0001c0001t0006g0073 a0001c0001t0011g0109 a0001c0001t0027g0160 a0001c0001t0072g0031 a0001c0004t0036g0010 a0002c0002t0002g0085 a0002c0002t0046g0100	8	184	0.0435	46	c.711 others(67): Show c.711+106233_711+106234insATATATATATATATATATATATAT ATATATATATATATATATATAT	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYNE1_chr6_152116687_152173312	152139717	A A	AAAAGAAA others(39): Show AAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0056 a0007c0006t0001g0056	1	436	0.0023	46	c.199 others(63): Show c.1992+232_1992+233insCTTTCCTTCTTTCTTTCTTTCTTTCTTT CTTTTTCTTTCTTTCTTT	SYNE1	ENSG00000131018.25	transcript	ENST00000354674.5	protein_coding	12/17			chr6	TogoVar

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Search Results (Total: 3221 hits)