Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPON1_chr11_13957723_14273133	14272671	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG03486.hp2 NA18906.hp1 others(2): Show HG02965.hp2 HG03486.hp2 NA18906.hp1 NA18966.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0009t0001	a0001c0001t0001g0032 a0001c0002t0001g0144 a0001c0003t0001g0085 others(2): Show a0001c0001t0001g0032 a0001c0002t0001g0144 a0001c0003t0001g0085 a0001c0003t0001g0115 a0001c0009t0001g0170	5	71	0.0704	19	c.69 others(30): Show c.6984_*6985insAAAAAAAAAAAAAAAAAAA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding		4539		chr11	TogoVar
SPON1_chr11_13957723_14273133	14272681	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0182 a0001c0002t0003g0182	1	222	0.0045	19	c.69 others(30): Show c.6994_*6995insAAAAAAAAAAAAAAAAAAC	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding		4549		chr11	TogoVar
SPON1_chr11_13957723_14273133	14272682	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01167.hp2 HG01952.hp2 others(13): Show HG00280.hp2 HG01167.hp2 HG01952.hp2 HG02055.hp2 HG02056.hp2 HG02602.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp1 HG03017.hp2 HG04199.hp1 NA18943.hp1 NA18943.hp2 NA18998.hp2 NA19063.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0002t0011 a0001c0003t0010 a0001c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0062 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0062 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0003g0206 a0001c0002t0001g0039 a0001c0002t0001g0064 a0001c0002t0001g0134 a0001c0002t0003g0208 a0001c0002t0003g0211 a0001c0002t0011g0148 a0001c0003t0010g0094 a0001c0003t0010g0095 a0001c0004t0001g0083 a0001c0004t0001g0106	16	182	0.0879	19	c.69 others(30): Show c.6995_*6996insAAAAAAAAAAAAAAAAAAC	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding		4550		chr11	TogoVar
SPPL3_chr12_120757510_120909358	120830606	A A	AGAGAGAG others(12): Show AGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0066 a0001c0001t0008g0066	1	314	0.0032	19	c.24- others(36): Show c.24-19721_24-19720insCTCTCTCTCTCTCTCTCTC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120871130	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18964.hp2 NA19009.hp2 NA18942.hp2 NA18964.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0024 a0001c0001t0004 a0001c0001t0024	a0001c0001t0004g0166 a0001c0001t0004g0179 a0001c0001t0024g0186 a0001c0001t0004g0166 a0001c0001t0004g0179 a0001c0001t0024g0186	3	95	0.0316	19	c.23+ others(36): Show c.23+32696_23+32714dupTTTTTTTTTTTTTTTTTTT	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120871144	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18987.hp1 NA19056.hp1 others(1): Show NA18947.hp1 NA18987.hp1 NA19056.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0121 a0001c0001t0004g0126 a0001c0001t0004g0156 others(1): Show a0001c0001t0004g0121 a0001c0001t0004g0126 a0001c0001t0004g0156 a0001c0001t0004g0157	4	269	0.0149	19	c.23+ others(36): Show c.23+32700_23+32701insCTTTTTTTTTTTTTTTTTT	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPRED2_chr2_65305851_65437599	65338170	G G	GTCTCCCG others(12): Show GTCTCCCGTCTCCCTCTCCC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0052 a0001c0001t0010g0052	1	274	0.0036	19	c.205 others(36): Show c.205-3416_205-3398dupGGGAGAGGGAGACGGGAGA	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	2/5			chr2	TogoVar
SPRED2_chr2_65305851_65437599	65338234	G G	GTCTCCCT others(12): Show GTCTCCCTCTCCCGTCTCCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG01257.hp1 others(13): Show HG00323.hp1 HG00642.hp2 HG01257.hp1 HG02040.hp2 HG02071.hp1 HG02809.hp1 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG04184.hp1 HG04228.hp2 HG06807.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0024 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0024 a0001c0002t0002 a0001c0002t0004	a0001c0001t0002g0006 a0001c0001t0002g0030 a0001c0001t0002g0034 others(13): Show a0001c0001t0002g0006 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0044 a0001c0001t0002g0047 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0082 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0024g0274 a0001c0002t0002g0048 a0001c0002t0002g0068 a0001c0002t0004g0007 a0001c0002t0004g0091	16	137	0.1168	19	c.205 others(36): Show c.205-3480_205-3462dupGGGAGACGGGAGAGGGAGA	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	2/5			chr2	TogoVar
SPRED2_chr2_65305851_65437599	65427426	G G	GAACATTT others(12): Show GAACATTTAAGGGTTCTACT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0171 a0001c0002t0001g0171	1	274	0.0036	19	c.26+ others(34): Show c.26+4535_26+4536insAGTAGAACCCTTAAATGTT	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	1/5			chr2	TogoVar
SPRY3_chrX_155607586_155787459	155616130	C C	CTCTCTCT others(12): Show CTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02074.hp1 HG02165.hp1 others(3): Show HG01346.hp1 HG02074.hp1 HG02165.hp1 HG02976.hp1 NA18952.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0038 a0001c0001t0125 a0001c0002t0122	a0001c0001t0001g0145 a0001c0001t0002g0195 a0001c0001t0004g0168 others(3): Show a0001c0001t0001g0145 a0001c0001t0002g0195 a0001c0001t0004g0168 a0001c0001t0038g0162 a0001c0001t0125g0142 a0001c0002t0122g0221	6	121	0.0496	19	c.-28 others(38): Show c.-282+3483_-282+3484insTCTCTCTCTCTCTCTCTCT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2			chrX	TogoVar
SPRY4_chr5_142305430_142330021	142311935	G G	GGGTGTGT others(12): Show GGGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0084 a0001c0001t0067g0084	1	27	0.0370	19	c.22 others(30): Show c.2273_*2274insACACACACACACACACACC	SPRY4	ENSG00000187678.10	transcript	ENST00000434127.3	protein_coding	2/2	2273		chr5	TogoVar
SPRYD4_chr12_56463578_56484708	56464852	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02970.hp2 HG02622.hp1 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0077 a0001c0002t0078 a0001c0002t0077 a0001c0002t0078	a0001c0002t0077g0001 a0001c0002t0078g0001 a0001c0002t0077g0001 a0001c0002t0078g0001	2	316	0.0063	19	c.-37 others(30): Show c.-3740_-3739insTTTTTTTTTTTTTTTTTTT	SPRYD4	ENSG00000176422.14	transcript	ENST00000338146.7	protein_coding		3725		chr12	TogoVar
SPSB1_chr1_9287894_9374532	9361156	C C	CCTTTTTT others(12): Show CCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18982.hp1 NA18990.hp1 others(2): Show NA18957.hp1 NA18982.hp1 NA18990.hp1 NA19063.hp1 NA19070.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0003c0005t0006	a0001c0001t0002g0259 a0001c0001t0004g0237 a0001c0001t0006g0097 others(2): Show a0001c0001t0002g0259 a0001c0001t0004g0237 a0001c0001t0006g0097 a0001c0001t0006g0115 a0003c0005t0006g0087	5	46	0.1087	19	c.694 others(36): Show c.694+4571_694+4572insCTTTTTTTTTTTTTTTTTT	SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	2/2			chr1	TogoVar
SPSB1_chr1_9287894_9374532	9361156	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp2 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0034 a0001c0001t0011 a0001c0001t0034	a0001c0001t0011g0230 a0001c0001t0034g0140 a0001c0001t0011g0230 a0001c0001t0034g0140	2	43	0.0465	19	c.694 others(36): Show c.694+4580_694+4598dupTTTTTTTTTTTTTTTTTTT	SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTATTAT others(12): Show ATTATTATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	163	0.0061	19	c.258 others(38): Show c.2587+1691_2587+1692insAAAAAAAAAAAAATAATAA	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
SPTAN1_chr9_128547587_128638662	128561662	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02818.hp1 HG03041.hp2 others(2): Show HG02809.hp2 HG02818.hp1 HG03041.hp2 NA18947.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0071 others(2): Show a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0071 a0001c0001t0001g0108 a0001c0001t0001g0109	5	26	0.1923	19	c.-3- others(34): Show c.-3-5068_-3-5050dupAAAAAAAAAAAAAAAAAAA	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54466561	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0131 a0001c0001t0005g0131	1	251	0.0040	19	c.-48 others(38): Show c.-48+10071_-48+10089dupAAAAAAAAAAAAAAAAAAA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54487832	C C	CTCTTTTT others(12): Show CTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01257.hp2 HG01952.hp2 others(3): Show HG01192.hp1 HG01257.hp2 HG01952.hp2 HG02897.hp1 HG02922.hp2 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0007 a0001c0004t0035 a0001c0004t0004 a0001c0004t0007 a0001c0004t0035	a0001c0004t0004g0132 a0001c0004t0004g0203 a0001c0004t0004g0264 others(3): Show a0001c0004t0004g0132 a0001c0004t0004g0203 a0001c0004t0004g0264 a0001c0004t0004g0266 a0001c0004t0007g0055 a0001c0004t0035g0042	6	7	0.8571	19	c.-48 others(38): Show c.-48+31315_-48+31316insCTTTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54487832	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01255.hp1 HG01433.hp2 others(29): Show HG00099.hp2 HG01255.hp1 HG01433.hp2 HG01515.hp1 HG01993.hp2 HG02027.hp2 HG02083.hp2 HG02155.hp2 HG02165.hp2 HG02293.hp1 HG02622.hp1 HG02683.hp1 HG02717.hp1 HG03540.hp1 HG03942.hp1 HG03942.hp2 NA18940.hp2 NA18946.hp1 NA18952.hp2 NA18955.hp1 NA18970.hp1 NA18971.hp2 NA18979.hp2 NA18982.hp2 NA19055.hp1 NA19058.hp1 NA19076.hp1 NA19084.hp1 NA19085.hp2 NA19091.hp2 NA20752.hp1 NA20752.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0001c0010 a0001c0015 a0001c0016 a0001c0017 a0001c0019 a0007c0031	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(11): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0039 a0001c0002t0001 a0001c0004t0004 a0001c0009t0007 a0001c0010t0002 a0001c0010t0017 a0001c0015t0002 a0001c0016t0005 a0001c0017t0002 a0001c0019t0012 a0007c0031t0004	a0001c0001t0002g0022 a0001c0001t0002g0097 a0001c0001t0002g0165 others(29): Show a0001c0001t0002g0022 a0001c0001t0002g0097 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0225 a0001c0001t0002g0249 a0001c0001t0002g0317 a0001c0001t0002g0338 a0001c0001t0002g0346 a0001c0001t0005g0136 a0001c0001t0005g0344 a0001c0001t0005g0347 a0001c0001t0007g0018 a0001c0001t0039g0058 a0001c0002t0001g0111 a0001c0002t0001g0134 a0001c0004t0004g0202 a0001c0004t0004g0216 a0001c0009t0007g0270 a0001c0010t0002g0199 a0001c0010t0017g0150 a0001c0015t0002g0207 a0001c0015t0002g0220 a0001c0016t0005g0099 a0001c0017t0002g0164 a0001c0019t0012g0252 a0007c0031t0004g0063	32	33	0.9697	19	c.-48 others(38): Show c.-48+31329_-48+31330insTTTTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54576055	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0243 a0001c0008t0005g0243	1	129	0.0078	19	c.149 others(38): Show c.149-23020_149-23019insTTTTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54581577	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01943.hp1 HG01978.hp2 others(5): Show HG01167.hp1 HG01943.hp1 HG01978.hp2 HG02897.hp2 HG03491.hp1 HG06807.hp2 NA18945.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0009 a0001c0029 others(1): Show a0001c0003 a0001c0009 a0001c0029 a0002c0006	a0001c0003t0003 a0001c0009t0002 a0001c0009t0007 others(4): Show a0001c0003t0003 a0001c0009t0002 a0001c0009t0007 a0001c0009t0010 a0001c0009t0045 a0001c0029t0007 a0002c0006t0003	a0001c0003t0003g0256 a0001c0009t0002g0287 a0001c0009t0007g0286 others(5): Show a0001c0003t0003g0256 a0001c0009t0002g0287 a0001c0009t0007g0286 a0001c0009t0010g0084 a0001c0009t0045g0298 a0001c0029t0007g0283 a0002c0006t0003g0141 a0002c0006t0003g0153	8	70	0.1143	19	c.149 others(38): Show c.149-17510_149-17492dupTTTTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTB_chr14_64741283_64884907	64751927	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03669.hp1 NA18979.hp1 others(1): Show HG03516.hp2 HG03669.hp1 NA18979.hp1 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0014 a0002c0005 a0001c0001 a0001c0014 a0002c0005	a0001c0001t0023 a0001c0014t0004 a0002c0005t0004 a0001c0001t0023 a0001c0014t0004 a0002c0005t0004	a0001c0001t0023g0227 a0001c0014t0004g0091 a0002c0005t0004g0131 others(1): Show a0001c0001t0023g0227 a0001c0014t0004g0091 a0002c0005t0004g0131 a0002c0005t0004g0154	4	154	0.0260	19	c.660 others(38): Show c.6602+1609_6602+1610insTTTTTTTTTTTTTTTTTTT	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	33/35			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77529620	C C	CTTTCTTT others(12): Show CTTTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA19030.hp2 HG00741.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0215 a0001c0001t0001g0018 a0001c0001t0001g0215	2	27	0.0741	19	c.130 others(38): Show c.1304-8040_1304-8039insAAAAAAAAAAAAAAAGAAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443550	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	340	0.0029	19	c.113 others(36): Show c.113-8247_113-8246insCACACACACACACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTY2D1_chr11_18601403_18639342	18610686	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02976.hp2 HG02630.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0023 a0001c0001t0003 a0001c0001t0023	a0001c0001t0003g0258 a0001c0001t0023g0256 a0001c0001t0003g0258 a0001c0001t0023g0256	2	435	0.0046	19	c.196 others(36): Show c.1965-733_1965-732insGTTTTTTTTTTTTTTTTTT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	5/5			chr11	TogoVar
SPTY2D1_chr11_18601403_18639342	18622086	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01433.hp1 HG01943.hp2 others(9): Show HG01255.hp1 HG01433.hp1 HG01943.hp2 HG03654.hp2 NA18947.hp2 NA18954.hp1 NA18959.hp2 NA18971.hp2 NA18982.hp2 NA18993.hp2 NA19056.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0018 a0001c0001t0028	a0001c0001t0001g0042 a0001c0001t0001g0266 a0001c0001t0001g0315 others(8): Show a0001c0001t0001g0042 a0001c0001t0001g0266 a0001c0001t0001g0315 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0338 a0001c0001t0006g0267 a0001c0001t0018g0265 a0001c0001t0028g0268	12	211	0.0569	19	c.61- others(34): Show c.61-5098_61-5097insTTTTTTTTTTTTTTTTTTT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SQOR_chr15_45630029_45696281	45666836	C C	CCTCCCCT others(12): Show CCTCCCCTCCCTCCTCTCCT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	332	0.0030	19	c.406 others(36): Show c.406-3082_406-3081insTCCTCTCCTCTCCCCTCCC	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SQOR_chr15_45630029_45696281	45666939	T T	TCCTTTCT others(12): Show TCCTTTCTCCCATCCCCTCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01496.hp2 HG02451.hp2 others(7): Show HG00741.hp1 HG01496.hp2 HG02451.hp2 HG02698.hp2 HG02895.hp2 HG02897.hp2 HG03209.hp2 HG03492.hp2 HG03579.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0067 others(7): Show a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0091 a0001c0001t0001g0119 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0228 a0001c0001t0001g0276	10	338	0.0296	19	c.406 others(36): Show c.406-2985_406-2967dupTTCTCCCATCCCCTCCCCT	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SRBD1_chr2_45383680_45616267	45545283	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	119	0.0084	19	c.187 others(38): Show c.1874+1430_1874+1448dupTTTTTTTTTTTTTTTTTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	14/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45571517	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02004.hp2 HG02071.hp1 others(19): Show HG01167.hp2 HG02004.hp2 HG02071.hp1 HG02129.hp1 HG02300.hp2 HG02486.hp1 HG03669.hp2 HG04115.hp2 NA18942.hp2 NA18944.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18953.hp2 NA18959.hp1 NA18965.hp1 NA18987.hp1 NA18995.hp2 NA19004.hp2 NA19005.hp1 NA19086.hp2 NA19088.hp1	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0001 a0003c0003 a0013c0017 a0001c0001 a0003c0003 a0013c0017	a0001c0001t0001 a0003c0003t0001 a0013c0017t0001 a0001c0001t0001 a0003c0003t0001 a0013c0017t0001	a0001c0001t0001g0064 a0003c0003t0001g0059 a0003c0003t0001g0060 others(19): Show a0001c0001t0001g0064 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0001g0063 a0003c0003t0001g0065 a0003c0003t0001g0070 a0003c0003t0001g0071 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0274 a0003c0003t0001g0275 a0003c0003t0001g0283 a0003c0003t0001g0284 a0003c0003t0001g0285 a0003c0003t0001g0286 a0003c0003t0001g0300 a0003c0003t0001g0304 a0003c0003t0001g0306 a0003c0003t0001g0307 a0013c0017t0001g0305	22	137	0.1606	19	c.130 others(38): Show c.1305+1671_1305+1689dupTTTTTTTTTTTTTTTTTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	9/20			chr2	TogoVar
SRCIN1_chr17_38525031_38610952	38566866	T T	TTCCTTCC others(12): Show TTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA19063.hp1 HG02015.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0012 a0001c0002t0002 a0001c0003t0012	a0001c0002t0002g0148 a0001c0003t0012g0186 a0001c0002t0002g0148 a0001c0003t0012g0186	2	17	0.1176	19	c.345 others(36): Show c.345+1344_345+1345insGGAAGGAAGGAAGGAAGGA	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	3/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0142 a0001c0001t0012g0142	1	194	0.0052	19	c.91+ others(34): Show c.91+7521_91+7522insATATTTTTTTTTTTTTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREK1IP1_chr5_64713148_64773691	64727553	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0070 a0001c0003t0008g0070	1	104	0.0096	19	c.278 others(34): Show c.278+553_278+554insATATATATATATATATATA	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	4/4			chr5	TogoVar
SREK1_chr5_66139300_66188615	66155062	A A	AGTGTTGC others(12): Show AGTGTTGCTTGGTTGAAACC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00609.hp1 others(52): Show HG00408.hp2 HG00438.hp1 HG00609.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01358.hp2 HG01981.hp2 HG02004.hp1 HG02056.hp2 HG02080.hp2 HG02258.hp2 HG02273.hp1 HG02717.hp2 HG02965.hp2 NA18612.hp2 NA18747.hp1 NA18942.hp2 NA18949.hp1 NA18953.hp2 NA18961.hp1 NA18963.hp1 NA18968.hp1 NA18970.hp2 NA18974.hp1 NA18975.hp1 NA18982.hp2 NA18983.hp2 NA18989.hp1 NA18990.hp2 NA18994.hp1 NA18997.hp2 NA19000.hp2 NA19002.hp2 NA19006.hp2 NA19054.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19066.hp1 NA19068.hp1 NA19077.hp2 NA19078.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19087.hp1 NA19091.hp2 NA20129.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0003 a0001c0001t0013 a0001c0001t0026 others(6): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0026 a0001c0001t0029 a0001c0001t0032 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0005c0004t0003	a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0027 others(31): Show a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0027 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0189 a0001c0001t0003g0192 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0204 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0013g0016 a0001c0001t0013g0205 a0001c0001t0026g0203 a0001c0001t0029g0193 a0001c0001t0032g0217 a0001c0001t0041g0016 a0001c0001t0042g0005 a0001c0001t0044g0004 a0005c0004t0003g0005	55	384	0.1432	19	c.295 others(36): Show c.295+1467_295+1485dupGTGTTGCTTGGTTGAAACC	SREK1	ENSG00000153914.16	transcript	ENST00000334121.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SRGAP1_chr12_63839700_64167217	63951152	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0086 a0001c0002t0003g0086	1	20	0.0500	19	c.68- others(36): Show c.68-32784_68-32766dupTTTTTTTTTTTTTTTTTTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64150934	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0051 a0001c0001t0103g0051	1	65	0.0154	19	c.82 others(30): Show c.8270_*8288dupAAAAAAAAAAAAAAAAAAA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	22/22	8289	INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2_chr1_206198541_206469436	206279581	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18947.hp1 NA18977.hp2 others(1): Show HG00621.hp1 NA18947.hp1 NA18977.hp2 NA18993.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0025 a0001c0003t0006 a0001c0003t0025	a0001c0003t0006g0174 a0001c0003t0006g0175 a0001c0003t0006g0176 others(1): Show a0001c0003t0006g0174 a0001c0003t0006g0175 a0001c0003t0006g0176 a0001c0003t0025g0031	4	54	0.0741	19	c.68- others(36): Show c.68-23682_68-23681insTTTTTTTTTTTTTTTTTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRP14_chr15_40030690_40044181	40037279	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03130.hp1 HG03492.hp2 others(4): Show HG02622.hp2 HG03130.hp1 HG03492.hp2 NA18985.hp2 NA18989.hp1 NA19060.hp1 NA19075.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	7	75	0.0933	19	c.211 others(34): Show c.211-262_211-261insTTTTTTTTTTTTTTTTTTT	SRP14	ENSG00000140319.11	transcript	ENST00000267884.11	protein_coding	3/4			chr15	TogoVar
SRP54_chr14_34977992_35034567	35014290	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTGTTTTG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0285	1	183	0.0055	19	c.886 others(34): Show c.886+392_886+393insTTTTTTTTTGTTTTGTTTT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	35014290	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00438.hp1 others(57): Show HG00099.hp2 HG00408.hp1 HG00438.hp1 HG00609.hp2 HG00733.hp1 HG00741.hp1 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01256.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp2 HG02074.hp2 HG02129.hp2 HG02809.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03669.hp1 HG03704.hp2 HG03834.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18945.hp2 NA18951.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18965.hp1 NA18971.hp1 NA18980.hp2 NA18981.hp2 NA18986.hp1 NA18990.hp2 NA18994.hp1 NA19011.hp1 NA19055.hp1 NA19058.hp2 NA19074.hp2 NA19085.hp1 NA19089.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0015 others(54): Show a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0290 a0001c0001t0002g0293 a0001c0001t0002g0298 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0002g0305 a0001c0001t0002g0309 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0314 a0001c0001t0002g0317 a0001c0001t0002g0319 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0338 a0001c0001t0002g0341 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0349 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0366 a0001c0001t0002g0367 a0001c0001t0002g0368 a0001c0001t0002g0369 a0001c0001t0002g0371 a0001c0001t0002g0374 a0001c0001t0002g0375 a0001c0001t0002g0377 a0001c0001t0002g0378 a0001c0001t0002g0379 a0001c0001t0004g0174	60	242	0.2479	19	c.886 others(34): Show c.886+392_886+393insTTTTTTTTTTTTTTGTTTT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76062742	T T	TATATATA others(12): Show TATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01261.hp1 HG01433.hp2 HG00323.hp2 HG01261.hp1 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201	3	363	0.0083	19	c.562 others(36): Show c.562-1169_562-1168insTTTATATATATATATATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP9_chr1_225772826_225795464	225784229	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0049 a0001c0001t0004g0049 a0001c0001t0001g0049 a0001c0001t0004g0049	2	24	0.0833	19	c.141 others(34): Show c.141+878_141+896dupTTTTTTTTTTTTTTTTTTT	SRP9	ENSG00000143742.14	transcript	ENST00000304786.12	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRPK1_chr6_35827966_35926098	35880742	A A	AAAAAAAA others(12): Show AAAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG04115.hp2 HG01070.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0229 a0001c0001t0003g0033 a0001c0001t0003g0229	2	89	0.0225	19	c.478 others(36): Show c.478+5981_478+5982insCTTTCTTTCTTTTTTTTTT	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	6/15			chr6	TogoVar
SRPK2_chr7_105111374_105393921	105159448	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	153	0.0065	19	c.621 others(36): Show c.621+1040_621+1058dupTTTTTTTTTTTTTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	7/15			chr7	TogoVar
SRRD_chr22_26478877_26499658	26490559	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19010.hp1 NA19009.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	2	59	0.0339	19	c.764 others(34): Show c.764+365_764+383dupTTTTTTTTTTTTTTTTTTT	SRRD	ENSG00000100104.13	transcript	ENST00000215917.11	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
SRRM1_chr1_24638302_24678281	24667965	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0273 a0001c0002t0001g0273	1	142	0.0070	19	c.173 others(38): Show c.1739+1049_1739+1067dupTTTTTTTTTTTTTTTTTTT	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRRM1_chr1_24638302_24678281	24676051	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0054 a0001c0001t0004g0054	1	127	0.0079	19	c.37 others(30): Show c.3765_*3766insTTTTTTTTTTTTTTTTTTT	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2771		chr1	TogoVar
SRRM3_chr7_76196896_76292287	76221359	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA19085.hp1 HG04204.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0001 a0002c0006t0001 a0002c0002t0001 a0002c0006t0001	a0002c0002t0001g0282 a0002c0006t0001g0283 a0002c0002t0001g0282 a0002c0006t0001g0283	2	139	0.0144	19	c.-39 others(38): Show c.-39-13666_-39-13648dupTTTTTTTTTTTTTTTTTTT	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM3_chr7_76196896_76292287	76224467	T T	TGGTCTCT others(12): Show TGGTCTCTTTTTTGCTCCTG	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0313 a0002c0002t0003g0313	1	322	0.0031	19	c.-39 others(38): Show c.-39-10560_-39-10542dupGGTCTCTTTTTTGCTCCTG	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM3_chr7_76196896_76292287	76277746	G G	GAAAGAAA others(12): Show GAAAGAAAGAAAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01884.hp1 HG01934.hp2 others(8): Show HG01433.hp2 HG01884.hp1 HG01934.hp2 HG02280.hp1 HG02717.hp1 HG02809.hp1 HG03017.hp1 HG03486.hp1 HG03834.hp1 NA18980.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0007 a0001c0001 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0002c0002t0002 a0002c0002t0003 a0002c0002t0012 a0002c0007t0001	a0001c0001t0001g0174 a0001c0001t0001g0319 a0001c0001t0002g0248 others(8): Show a0001c0001t0001g0174 a0001c0001t0001g0319 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0008g0265 a0002c0002t0002g0236 a0002c0002t0003g0205 a0002c0002t0003g0303 a0002c0002t0012g0296 a0002c0007t0001g0272	11	121	0.0909	19	c.100 others(38): Show c.1009-3683_1009-3682insAAGAAAAAAAGAAAGAAAA	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr7	TogoVar

Search by Variant

Search

Search Results