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
SPTLC2_chr14_77500997_77621637	77534588	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01884.hp2 HG01975.hp1 others(2): Show HG01358.hp1 HG01884.hp2 HG01975.hp1 HG02647.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 a0001c0002t0003	a0001c0001t0003g0189 a0001c0001t0005g0127 a0001c0001t0019g0245 others(2): Show a0001c0001t0003g0189 a0001c0001t0005g0127 a0001c0001t0019g0245 a0001c0002t0003g0032 a0001c0002t0003g0061	5	23	0.2174	26	c.130 others(47): Show c.1304-13008_1304-13007insGTGTGTGTGTGTGTGTGTGTGTGT GT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC3_chr20_13003972_13174103	13038045	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp2 NA19030.hp2 HG00735.hp2 HG01106.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0011 a0001c0005t0020 a0001c0003t0011 a0001c0005t0020	a0001c0003t0011g0152 a0001c0003t0011g0153 a0001c0005t0020g0078 a0001c0003t0011g0152 a0001c0003t0011g0153 a0001c0005t0020g0078	3	259	0.0116	26	c.118 others(45): Show c.118-10885_118-10884insTATATATATATATATATATATATATA	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTSSA_chr14_34427788_34467240	34443506	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	164	0.0061	26	c.113 others(43): Show c.113-8228_113-8203dupACACACACACACACACACACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSB_chr3_161339798_161376517	161369286	T T	TTTTCTTT others(19): Show TTTTCTTTCTTTCTTTCTTTCTCTTTC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp2 HG01361.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	369	0.0054	26	c.-12 others(45): Show c.-126+2148_-126+2149insGAAAGAGAAAGAAAGAAAGAAAGAAA	SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	1/2			chr3	TogoVar
SPTY2D1_chr11_18601403_18639342	18622086	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG03831.hp2 HG01256.hp2 HG01258.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0307 a0001c0001t0001g0041 a0001c0001t0001g0307	3	202	0.0149	26	c.61- others(41): Show c.61-5098_61-5097insTTTTTTTTTTTTTTTTTTTTTTTTTT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SQLE_chr8_124993505_125027283	125025833	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG06807.hp1 HG03540.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0001 a0001c0001t0004 a0001c0003t0001	a0001c0001t0004g0030 a0001c0003t0001g0014 a0001c0001t0004g0030 a0001c0003t0001g0014	2	195	0.0103	26	c.38 others(37): Show c.3888_*3889insACACACACACACACACACACACACAC	SQLE	ENSG00000104549.12	transcript	ENST00000265896.10	protein_coding		3551		chr8	TogoVar
SQOR_chr15_45630029_45696281	45634198	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00408.hp2 others(41): Show HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00597.hp2 HG00738.hp2 HG01169.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG02132.hp1 HG02165.hp2 HG02258.hp1 HG02293.hp1 HG02451.hp2 HG02572.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG03017.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 NA18944.hp1 NA18950.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18965.hp1 NA18994.hp1 NA19001.hp1 NA19009.hp1 NA19010.hp2 NA19030.hp1 NA19055.hp1 NA19055.hp2 NA19068.hp1 NA19081.hp2 NA19083.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0001 a0002c0002t0005	a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0053 others(41): Show a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0123 a0001c0001t0001g0138 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0199 a0001c0001t0001g0210 a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0247 a0001c0001t0002g0022 a0001c0003t0001g0059 a0001c0003t0001g0069 a0001c0003t0001g0073 a0001c0003t0001g0093 a0001c0003t0001g0102 a0001c0003t0001g0121 a0001c0003t0001g0220 a0002c0002t0001g0007 a0002c0002t0001g0017 a0002c0002t0001g0071 a0002c0002t0001g0136 a0002c0002t0001g0165 a0002c0002t0001g0200 a0002c0002t0001g0231 a0002c0002t0001g0260 a0002c0002t0005g0033	44	101	0.4356	26	c.-92 others(35): Show c.-928_-927insTATATATATATATATATATATATATA	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding		830		chr15	TogoVar
SRBD1_chr2_45383680_45616267	45571517	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0309 a0003c0003t0001g0309	1	116	0.0086	26	c.130 others(45): Show c.1305+1689_1305+1690insTTTTTTTTTTTTTTTTTTTTTTTTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	9/20			chr2	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0026 a0001c0002t0020g0026	1	194	0.0052	26	c.91+ others(41): Show c.91+7521_91+7522insATATATTTTTTTTTTTTTTTTTTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03453.hp1 HG02647.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0136 a0001c0001t0015g0141 a0001c0001t0015g0136 a0001c0001t0015g0141	2	195	0.0103	26	c.91+ others(41): Show c.91+7521_91+7522insATATATATTTTTTTTTTTTTTTTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0089 a0001c0001t0022g0089	1	194	0.0052	26	c.91+ others(41): Show c.91+7521_91+7522insATATATATATTTTTTTTTTTTTTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03098.hp1 HG01934.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0018 a0001c0001t0001 a0001c0004t0018	a0001c0001t0001g0134 a0001c0004t0018g0088 a0001c0001t0001g0134 a0001c0004t0018g0088	2	195	0.0103	26	c.91+ others(41): Show c.91+7521_91+7522insATATATATATATTTTTTTTTTTTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREK1IP1_chr5_64713148_64773691	64727553	A A	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0016 a0001c0003t0013g0016	1	104	0.0096	26	c.278 others(41): Show c.278+553_278+554insAAAAAAAAAATATATATATATATATA	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	4/4			chr5	TogoVar
SREK1IP1_chr5_64713148_64773691	64731521	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0042 a0001c0003t0015g0042	1	276	0.0036	26	c.206 others(43): Show c.206-3343_206-3342insTTTTTTTTTTTTTTTTTTTTTTTTTT	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	3/4			chr5	TogoVar
SRFBP1_chr5_121956975_122033633	121961746	C C	CACACACA others(19): Show CACACACACACACACACACACACACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 NA19056.hp2 HG01192.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0055 a0001c0001t0001g0057	2	74	0.0270	26	c.-28 others(35): Show c.-287_-286insACACACACACACACACACACACACAA	SRFBP1	ENSG00000151304.6	transcript	ENST00000339397.5	protein_coding		228		chr5	TogoVar
SRF_chr6_43166269_43186506	43177228	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0057 a0001c0001t0007g0057	1	173	0.0058	26	c.116 others(43): Show c.1162+578_1162+579insTTTTTTTTTTTTTTTTTTTTTTTTTT	SRF	ENSG00000112658.8	transcript	ENST00000265354.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
SRGAP1_chr12_63839700_64167217	63913480	T T	TATATATA others(19): Show TATATATATATATATATATATATATGG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0059 a0001c0002t0030g0059	1	100	0.0100	26	c.67+ others(43): Show c.67+68608_67+68609insTATATATATATATGGATATATATATA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63919499	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02572.hp2 HG02145.hp2 HG02451.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0143 a0001c0001t0144 a0001c0002t0058 a0001c0001t0143 a0001c0001t0144 a0001c0002t0058	a0001c0001t0143g0004 a0001c0001t0144g0006 a0001c0002t0058g0015 a0001c0001t0143g0004 a0001c0001t0144g0006 a0001c0002t0058g0015	3	66	0.0455	26	c.68- others(43): Show c.68-64425_68-64424insTATATATATATATATATATATATATA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63951152	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0143 a0001c0001t0143	a0001c0001t0143g0004 a0001c0001t0143g0004	1	20	0.0500	26	c.68- others(43): Show c.68-32791_68-32766dupTTTTTTTTTTTTTTTTTTTTTTTTTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64039628	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02886.hp2 HG04184.hp2 HG01978.hp1 HG02886.hp2 HG04184.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0004 a0003c0005 a0001c0002 a0002c0004 a0003c0005	a0001c0002t0001 a0002c0004t0150 a0003c0005t0138 a0001c0002t0001 a0002c0004t0150 a0003c0005t0138	a0001c0002t0001g0070 a0002c0004t0150g0121 a0003c0005t0138g0169 a0001c0002t0001g0070 a0002c0004t0150g0121 a0003c0005t0138g0169	3	17	0.1765	26	c.490 others(43): Show c.490-3155_490-3130dupGTGTGTGTGTGTGTGTGTGTGTGTGT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64044674	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0117 a0001c0001t0072g0117	1	61	0.0164	26	c.801 others(43): Show c.801+1124_801+1125insTTTTTTTTTTTTTTTTTTTTTTTTTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	144882877	G G	GAAAAAGC others(19): Show GAAAAAGCCGCGGCGGCGTGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	19	0.0526	26	c.92 others(37): Show c.9282_*9283insGCCCCCCCACGCCGCCGCGGCTTTTT	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		4410		chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	144882890	C C	CGGCAAAA others(19): Show CGGCAAAAAGCCACGGCGGCGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00673.hp1 HG00735.hp1 others(15): Show HG00280.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG01258.hp1 HG01952.hp1 HG02015.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02602.hp1 HG02602.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 NA18946.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0002c0002t0001 a0002c0002t0010 a0002c0002t0011	a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0026 others(15): Show a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0002g0002 a0001c0001t0002g0035 a0001c0001t0003g0016 a0001c0001t0003g0022 a0001c0001t0016g0038 a0002c0002t0001g0031 a0002c0002t0001g0042 a0002c0002t0010g0023 a0002c0002t0011g0028	18	48	0.3750	26	c.92 others(37): Show c.9269_*9270insCCCCCCCGCCGCCGTGGCTTTTTGCC	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		4397		chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121239212	A A	ATATATAT others(19): Show ATATATATACTATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0094 a0002c0002t0002g0094	1	250	0.0040	26	c.68- others(43): Show c.68-45583_68-45582insCTATATATATATATATACTATATATA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRMS_chr20_63533489_63552749	63535904	G G	GCCCCCCC others(19): Show GCCCCCCCCCCTCACCTGGCCTCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	291	0.0034	26	c.49 others(37): Show c.4913_*4914insGCGGGAGGCCAGGTGAGGGGGGGGGG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2584		chr20	TogoVar
SRP54_chr14_34977992_35034567	34988595	A A	ATATATAT others(19): Show ATATATATATATAACATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	389	0.0026	26	c.-34 others(43): Show c.-34+5380_-34+5381insTATATATATATAACATATATATATAT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15			chr14	TogoVar
SRP54_chr14_34977992_35034567	34988599	T T	TATATATA others(19): Show TATATATATAACATATATATATATAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG01257.hp1 others(2): Show HG00099.hp1 HG00741.hp2 HG01257.hp1 HG02615.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0262 a0001c0001t0002g0263 others(1): Show a0001c0001t0002g0010 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264	5	386	0.0130	26	c.-34 others(43): Show c.-34+5393_-34+5394insACATATATATATATAACATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34995134	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0085 a0001c0001t0004g0085	1	145	0.0069	26	c.-33 others(43): Show c.-33-1514_-33-1489dupGTGTGTGTGTGTGTGTGTGTGTGTGT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76062582	A A	ATATATTA others(19): Show ATATATTATATAATATACATTATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0311 a0001c0003t0001g0311	1	363	0.0028	26	c.562 others(43): Show c.562-1009_562-1008insATATATAATGTATATTATATAATATA	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP72_chr4_56462617_56508681	56484026	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0207 a0001c0004t0004g0207	1	134	0.0075	26	c.958 others(41): Show c.958-685_958-684insTTTTTTTTTTTTTTTTTTTTTTTTTT	SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SRPK2_chr7_105111374_105393921	105159464	A A	AACAAAAA others(19): Show AACAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	268	0.0037	26	c.621 others(43): Show c.621+1042_621+1043insGTTTTTTTTTTTTTTTTTTTTTTTGT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	7/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105159464	A A	ACAAAAAA others(19): Show ACAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	268	0.0037	26	c.621 others(43): Show c.621+1042_621+1043insGTTTTTTTTTTTTTTTTTTTTTTTTG	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	7/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105168745	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02630.hp1 HG01069.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0242 a0001c0001t0002g0264 a0001c0001t0001g0242 a0001c0001t0002g0264	2	68	0.0294	26	c.338 others(41): Show c.338+386_338+411dupCACACACACACACACACACACACACA	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	4/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105247531	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	65	0.0154	26	c.72- others(43): Show c.72-43772_72-43747dupGTGTGTGTGTGTGTGTGTGTGTGTGT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK3_chrX_153776041_153790730	153776568	A A	AGGCAGGG others(19): Show AGGCAGGGCGGGGCTGGGGCGAGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	304	0.0033	26	c.-45 others(37): Show c.-4519_-4518insGGCAGGGCGGGGCTGGGGCGAGGCGG	SRPK3	ENSG00000184343.11	transcript	ENST00000370101.8	protein_coding		4472		chrX	TogoVar
SRPX2_chrX_100639199_100680788	100657349	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG04115.hp1 NA18967.hp1 others(4): Show HG01978.hp1 HG04115.hp1 NA18967.hp1 NA18970.hp1 NA18987.hp2 NA18998.hp1 NA19058.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0020 a0003c0003t0002	a0001c0001t0001g0181 a0001c0001t0003g0022 a0001c0001t0006g0230 others(3): Show a0001c0001t0001g0181 a0001c0001t0003g0022 a0001c0001t0006g0230 a0001c0001t0006g0259 a0001c0001t0020g0200 a0003c0003t0002g0182	7	21	0.3333	26	c.164 others(43): Show c.164-4808_164-4807insTTTTTTTTTTTTTTTTTTTTTTTTTT	SRPX2	ENSG00000102359.9	transcript	ENST00000373004.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SRRM1_chr1_24638302_24678281	24640519	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	115	0.0087	26	c.-28 others(37): Show c.-2808_-2807insAAAAAAAAAAAAAAAAAAAAAAAAAA	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2782		chr1	TogoVar
SRRM1_chr1_24638302_24678281	24652029	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01081.hp1 HG01255.hp2 others(5): Show HG00621.hp2 HG01081.hp1 HG01255.hp2 HG02602.hp2 HG02976.hp1 HG03486.hp2 NA18992.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0016 a0001c0001t0001g0138 a0001c0001t0001g0235 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0138 a0001c0001t0001g0235 a0001c0001t0001g0264 a0001c0001t0003g0139 a0001c0001t0005g0016 a0001c0001t0005g0137	8	80	0.1000	26	c.726 others(41): Show c.726-396_726-371dupATATATATATATATATATATATATAT	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRRM1_chr1_24638302_24678281	24667965	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0266 a0001c0002t0001g0266	1	142	0.0070	26	c.173 others(45): Show c.1739+1042_1739+1067dupTTTTTTTTTTTTTTTTTTTTTTTTTT	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRRM4_chr12_118976541_119168051	119043775	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0025 a0001c0001t0009g0025	1	152	0.0066	26	c.132 others(45): Show c.132-58453_132-58428dupCACACACACACACACACACACACACA	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRSF8_chr11_95061919_95076225	95070368	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG02630.hp1 HG03516.hp2 HG01243.hp1 HG02630.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0042 a0001c0001t0030 a0001c0001t0042	a0001c0001t0030g0000 a0001c0001t0042g0000 a0001c0001t0030g0000 a0001c0001t0042g0000	3	6	0.5000	26	c.23 others(37): Show c.2309_*2310insAAAAAAAAAAAAAAAAAAAAAAAAAA	SRSF8	ENSG00000263465.5	transcript	ENST00000587424.3	protein_coding	1/1	2310	INFO_REALIGN_3_PRIME	chr11	TogoVar
SS18_chr18_26011253_26095613	26065800	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18953.hp1 NA19010.hp1 others(1): Show HG04115.hp2 NA18953.hp1 NA19010.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0151 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0151 a0001c0001t0001g0182	4	11	0.3636	26	c.232 others(43): Show c.232-8059_232-8058insATATATATATATATATATATATATAT	SS18	ENSG00000141380.14	transcript	ENST00000415083.7	protein_coding	3/10			chr18	TogoVar
SSBP2_chr5_81407804_81756097	81415922	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAGAAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp2 HG03098.hp2 HG03130.hp1 others(1): Show HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0053 a0001c0001t0075 a0001c0001t0035 a0001c0001t0053 a0001c0001t0075	a0001c0001t0035g0154 a0001c0001t0035g0162 a0001c0001t0053g0203 others(1): Show a0001c0001t0035g0154 a0001c0001t0035g0162 a0001c0001t0053g0203 a0001c0001t0075g0144	4	74	0.0541	26	c.45 others(37): Show c.4581_*4582insCTTTTCTTTTTTTTTTTTTTTTTTTT	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	17/17	4581		chr5	TogoVar
SSBP2_chr5_81407804_81756097	81542817	T T	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02976.hp2 NA20300.hp1 HG02717.hp1 HG02976.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0066 a0001c0001t0002 a0001c0001t0004 a0001c0001t0066	a0001c0001t0002g0150 a0001c0001t0004g0081 a0001c0001t0066g0037 a0001c0001t0002g0150 a0001c0001t0004g0081 a0001c0001t0066g0037	3	78	0.0385	26	c.283 others(45): Show c.283-29126_283-29101dupGAGAGAGAGAGAGAGAGAGAGAGAGA	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	4/16			chr5	TogoVar
SSBP2_chr5_81407804_81756097	81542817	T T	TTCTCTCT others(19): Show TTCTCTCTCTTTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	76	0.0132	26	c.283 others(45): Show c.283-29101_283-29100insGAGAGAGAGAGAGAGAAAGAGAGAGA	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	4/16			chr5	TogoVar
SSBP3_chr1_54220432_54411394	54235448	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02559.hp1 HG01515.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0022 a0001c0001t0005 a0001c0001t0022	a0001c0001t0005g0040 a0001c0001t0022g0276 a0001c0001t0005g0040 a0001c0001t0022g0276	2	127	0.0157	26	c.927 others(43): Show c.927+3680_927+3681insAAAAAAAAAAAAAAAAAAAAAAAAAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	14/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54298930	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02040.hp2 HG02129.hp2 others(5): Show HG01358.hp2 HG02040.hp2 HG02129.hp2 HG02559.hp1 NA18942.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0028 a0001c0001t0041 a0001c0001t0043	a0001c0001t0001g0103 a0001c0001t0003g0193 a0001c0001t0005g0040 others(5): Show a0001c0001t0001g0103 a0001c0001t0003g0193 a0001c0001t0005g0040 a0001c0001t0006g0166 a0001c0001t0007g0209 a0001c0001t0028g0269 a0001c0001t0041g0250 a0001c0001t0043g0256	8	62	0.1290	26	c.277 others(45): Show c.277-17429_277-17404dupGTGTGTGTGTGTGTGTGTGTGTGTGT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54386683	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03225.hp2 NA18522.hp2 others(1): Show HG02970.hp2 HG03225.hp2 NA18522.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0033 a0001c0001t0043 a0001c0001t0002 a0001c0001t0033 a0001c0001t0043	a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0033g0041 others(1): Show a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0033g0041 a0001c0001t0043g0256	4	79	0.0506	26	c.276 others(45): Show c.276+15177_276+15178insAAAAAAAAAAAAAAAAAAAAAAAAAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54396193	G G	GAAAAAAA others(19): Show GAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0025 a0001c0005t0025	a0001c0005t0025g0141 a0001c0005t0025g0141	1	97	0.0103	26	c.276 others(43): Show c.276+5642_276+5667dupTTTTTTTTTTTTTTTTTTTTTTTTTT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0294 a0005c0005t0001g0294	1	190	0.0053	26	c.138 others(43): Show c.1387+451_1387+452insATATATATATATATATATATATTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar

Search by Variant

Search

Search Results