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
SEMA3C_chr7_80737538_80924051	80750457	TATATATA others(13): Show TATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03209.hp1 HG02109.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0001 a0001c0002t0001 a0001c0006t0001	a0001c0002t0001g0159 a0001c0006t0001g0172 a0001c0002t0001g0159 a0001c0006t0001g0172	2	223	0.0090	-20	c.171 others(37): Show c.1711+792_1711+811delGTGTATATATATATATATAT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	16/17			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80911652	TGCTCAGG others(13): Show TGCTCAGGCTGGAGTACAATG	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	242	0.0041	-20	c.103 others(37): Show c.103+5007_103+5026delCATTGTACTCCAGCCTGAGC	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85168820	TGAAAGAA others(13): Show TGAAAGAAAGAAAGAAAGAAA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02055.hp2 HG02155.hp1 others(13): Show HG01261.hp1 HG02055.hp2 HG02155.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG03098.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp1 NA18963.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0004t0031 a0002c0002t0003 a0002c0003t0012	a0001c0001t0001g0035 a0001c0001t0001g0058 a0001c0001t0001g0128 others(13): Show a0001c0001t0001g0035 a0001c0001t0001g0058 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0005g0055 a0001c0001t0005g0141 a0001c0001t0005g0145 a0001c0001t0009g0034 a0001c0004t0031g0152 a0002c0002t0003g0080 a0002c0003t0012g0264	16	74	0.2162	-20	c.-17 others(41): Show c.-172-15101_-172-15082delTTTCTTTCTTTCTTTCTTTC	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	1/18			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83507424	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18951.hp2 NA19060.hp2 NA18945.hp2 NA18951.hp2 NA19060.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0038 a0001c0003t0001g0070 a0001c0003t0001g0109 a0001c0003t0001g0038 a0001c0003t0001g0070 a0001c0003t0001g0109	3	39	0.0769	-20	c.116 others(39): Show c.116-17170_116-17151delCACACACACACACACACACA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83533581	TAAAATAA others(13): Show TAAAATAAAATAAAATAAATG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG06807.hp2 NA18522.hp1 HG03041.hp2 HG06807.hp2 NA18522.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0013 a0002c0004t0013	a0002c0004t0013g0174 a0002c0004t0013g0175 a0002c0004t0013g0178 a0002c0004t0013g0174 a0002c0004t0013g0175 a0002c0004t0013g0178	3	178	0.0169	-20	c.116 others(39): Show c.116-43327_116-43308delCATTTATTTTATTTTATTTT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83593284	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00609.hp1 others(37): Show HG00408.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG01081.hp2 HG01167.hp2 HG01168.hp1 HG01496.hp1 HG01515.hp2 HG01884.hp2 HG01934.hp1 HG01993.hp2 HG02056.hp2 HG02280.hp2 HG02523.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02965.hp1 HG03041.hp1 HG03195.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18963.hp1 NA19004.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0002c0004	a0001c0001t0005 a0001c0001t0008 a0001c0001t0024 others(17): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0024 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0002t0001 a0001c0002t0003 a0001c0002t0020 a0001c0002t0052 a0001c0002t0068 a0001c0003t0001 a0001c0005t0007 a0001c0005t0011 a0001c0005t0058 a0001c0005t0059 a0001c0006t0064 a0002c0004t0001 a0002c0004t0002 a0002c0004t0009	a0001c0001t0005g0108 a0001c0001t0008g0190 a0001c0001t0024g0213 others(37): Show a0001c0001t0005g0108 a0001c0001t0008g0190 a0001c0001t0024g0213 a0001c0001t0024g0217 a0001c0001t0045g0114 a0001c0001t0047g0128 a0001c0001t0048g0129 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0127 a0001c0002t0003g0119 a0001c0002t0020g0112 a0001c0002t0020g0134 a0001c0002t0052g0047 a0001c0002t0068g0221 a0001c0003t0001g0107 a0001c0003t0001g0109 a0001c0003t0001g0115 a0001c0003t0001g0116 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0005t0007g0210 a0001c0005t0007g0211 a0001c0005t0007g0212 a0001c0005t0007g0216 a0001c0005t0007g0218 a0001c0005t0011g0220 a0001c0005t0058g0130 a0001c0005t0059g0132 a0001c0006t0064g0214 a0002c0004t0001g0106 a0002c0004t0001g0124 a0002c0004t0001g0135 a0002c0004t0002g0110 a0002c0004t0002g0111 a0002c0004t0002g0113 a0002c0004t0002g0117 a0002c0004t0002g0121 a0002c0004t0002g0142 a0002c0004t0009g0188	40	96	0.4167	-20	c.115 others(39): Show c.115+55124_115+55143delCACACACACACACACACACA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83604594	CACACACA others(13): Show CACACACACATATATATATGT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	224	0.0045	-20	c.115 others(39): Show c.115+43814_115+43833delACATATATATATGTGTGTGT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA4D_chr9_89372235_89503113	89449415	AAGTCACG others(13): Show AAGTCACGCTAAAAGACTAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	368	0.0027	-20	c.-24 others(39): Show c.-244+6453_-244+6472delCTTAGTCTTTTAGCGTGACT	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar
SEMA5A_chr5_9030033_9551075	9083578	TCATCCAT others(13): Show TCATCCATTCATCCATCCATC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	104	0.0096	-20	c.207 others(41): Show c.2074-16952_2074-16933delGATGGATGGATGAATGGATG	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	16/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9123258	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03195.hp1 HG03209.hp1 others(6): Show HG02258.hp1 HG03195.hp1 HG03209.hp1 HG03540.hp2 HG03579.hp2 HG03831.hp2 HG04115.hp1 NA18961.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0013 a0001c0001t0054 others(4): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0054 a0001c0003t0001 a0001c0003t0006 a0001c0003t0019 a0001c0010t0076	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0013g0036 others(6): Show a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0013g0036 a0001c0001t0013g0056 a0001c0001t0054g0094 a0001c0003t0001g0027 a0001c0003t0006g0047 a0001c0003t0019g0104 a0001c0010t0076g0125	9	18	0.5000	-20	c.160 others(37): Show c.1600-441_1600-422delTTTTTTTTTTTTTTTTTTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	13/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9131639	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00735.hp2 HG03225.hp1 others(6): Show HG00673.hp2 HG00735.hp2 HG03225.hp1 HG03831.hp2 NA18991.hp2 NA19012.hp1 NA19068.hp1 NA19068.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008	a0001c0001t0046 a0001c0002t0045 a0001c0002t0063 others(6): Show a0001c0001t0046 a0001c0002t0045 a0001c0002t0063 a0001c0002t0082 a0001c0003t0006 a0001c0003t0041 a0001c0006t0014 a0001c0006t0043 a0001c0008t0001	a0001c0001t0046g0023 a0001c0002t0045g0040 a0001c0002t0063g0100 others(6): Show a0001c0001t0046g0023 a0001c0002t0045g0040 a0001c0002t0063g0100 a0001c0002t0082g0134 a0001c0003t0006g0047 a0001c0003t0041g0016 a0001c0006t0014g0060 a0001c0006t0043g0007 a0001c0008t0001g0046	9	132	0.0682	-20	c.159 others(39): Show c.1599+4845_1599+4864delGTTTTTTTTTTTTTTTTTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	13/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9207880	GATAGATA others(13): Show GATAGATAGATAGATAGATAC	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0104 a0001c0003t0019g0104	1	132	0.0076	-20	c.647 others(37): Show c.647-5660_647-5641delGTATCTATCTATCTATCTAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	8/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9384551	GATAGATA others(13): Show GATAGATAGATAGATAGATAC	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	132	0.0076	-20	c.-77 others(37): Show c.-77-4548_-77-4529delGTATCTATCTATCTATCTAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9384599	GATAGATA others(13): Show GATAGATAGATAGATAGATAC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03209.hp1 HG02280.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0013 a0001c0013t0036 a0001c0001t0013 a0001c0013t0036	a0001c0001t0013g0056 a0001c0013t0036g0008 a0001c0001t0013g0056 a0001c0013t0036g0008	2	129	0.0155	-20	c.-77 others(37): Show c.-77-4596_-77-4577delGTATCTATCTATCTATCTAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9384619	CATAGATA others(13): Show CATAGATAGATAGATAGATAG	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 NA18989.hp2 HG01257.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0042 a0001c0001t0024g0025 a0001c0001t0001g0042 a0001c0001t0024g0025	2	65	0.0308	-20	c.-77 others(37): Show c.-77-4616_-77-4597delCTATCTATCTATCTATCTAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SEMA5B_chr3_122904082_123032763	123030622	ATCTCTCT others(13): Show ATCTCTCTCTCTCTCTCTCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02922.hp2 HG03471.hp2 others(1): Show HG02109.hp2 HG02922.hp2 HG03471.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0003 a0002c0002t0001 a0002c0002t0027 a0001c0005t0003 a0002c0002t0001 a0002c0002t0027	a0001c0005t0003g0171 a0001c0005t0003g0173 a0002c0002t0001g0178 others(1): Show a0001c0005t0003g0171 a0001c0005t0003g0173 a0002c0002t0001g0178 a0002c0002t0027g0174	4	57	0.0702	-20	c.-32 others(31): Show c.-3217_-3198delGAGAGAGAGAGAGAGAGAGA	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding		2860		chr3	TogoVar
SEMA6D_chr15_47712505_47779228	47717832	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0013 a0001c0010t0013	a0001c0010t0013g0312 a0001c0010t0013g0312	1	35	0.0286	-20	c.-55 others(35): Show c.-55+168_-55+187delGTGTGTGTGTGTGTGTGTGT	SEMA6D	ENSG00000137872.17	transcript	ENST00000536845.7	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SENP1_chr12_48037897_48111079	48044362	ATATATAT others(13): Show ATATATATATATATGTATGTG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0132 a0001c0001t0022g0132	1	392	0.0026	-20	c.94 others(29): Show c.940_*959delCACATACATATATATATATA	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	18/18	940		chr12	TogoVar
SENP2_chr3_185581295_185638551	185584452	CATATATA others(13): Show CATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02300.hp2 HG02559.hp1 others(11): Show HG02165.hp1 HG02300.hp2 HG02559.hp1 HG02572.hp1 HG02723.hp1 HG02886.hp1 HG02896.hp1 HG03139.hp1 HG03486.hp1 HG06807.hp1 NA18522.hp1 NA18944.hp2 NA18962.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0053 a0001c0001t0166 a0001c0001t0167 others(11): Show a0001c0001t0053 a0001c0001t0166 a0001c0001t0167 a0002c0002t0044 a0002c0002t0096 a0002c0002t0159 a0002c0002t0174 a0002c0002t0176 a0002c0002t0182 a0002c0002t0186 a0002c0002t0187 a0002c0002t0188 a0002c0002t0189 a0002c0005t0190	a0001c0001t0053g0189 a0001c0001t0166g0174 a0001c0001t0167g0151 others(11): Show a0001c0001t0053g0189 a0001c0001t0166g0174 a0001c0001t0167g0151 a0002c0002t0044g0207 a0002c0002t0096g0314 a0002c0002t0159g0209 a0002c0002t0174g0205 a0002c0002t0176g0009 a0002c0002t0182g0208 a0002c0002t0186g0203 a0002c0002t0187g0204 a0002c0002t0188g0206 a0002c0002t0189g0009 a0002c0005t0190g0202	14	116	0.1207	-20	c.-19 others(31): Show c.-1961_-1942delATATATATATATATATATAT	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding		1842		chr3	TogoVar
SENP3_chr17_7556919_7576969	7562076	AGGCGGCG others(13): Show AGGCGGCGCGGCGGGGTGCTC	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02976.hp1 HG03041.hp1 HG02976.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0007 a0001c0001t0014g0007	2	444	0.0045	-20	c.-18 others(29): Show c.-187_-168delGGGGTGCTCGGCGGCGCGGC	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	1/11	970	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP3_chr17_7556919_7576969	7571837	TTATATAT others(13): Show TTATATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01952.hp1 HG01978.hp2 HG01952.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	2	317	0.0063	-20	c.40 others(29): Show c.407_*426delTATATATATATATATATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	407	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP3_chr17_7556919_7576969	7571890	TATATATA others(13): Show TATATATATATATATATATAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	438	0.0023	-20	c.40 others(29): Show c.409_*428delTATATATATATATATATAAA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	409	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP3_chr17_7556919_7576969	7571892	TATATATA others(13): Show TATATATATATATATATAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01515.hp2 NA19002.hp2 NA19068.hp2 HG01515.hp2 NA19002.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0001 a0001c0001t0009g0001 a0001c0001t0002g0001 a0001c0001t0009g0001	3	434	0.0069	-20	c.41 others(29): Show c.417_*436delTATATATATAAAAATATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	417	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP6_chr6_75596880_75723281	75638580	GTGTGTGT others(13): Show GTGTGTGTGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(44): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01123.hp1 HG01256.hp1 HG01261.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02129.hp2 HG02165.hp1 HG02293.hp1 HG02886.hp1 HG03654.hp2 HG03831.hp2 HG04199.hp2 NA18948.hp1 NA18954.hp2 NA18964.hp1 NA18965.hp2 NA18971.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18984.hp2 NA18990.hp1 NA18997.hp2 NA19001.hp1 NA19006.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19066.hp1 NA19074.hp2 NA19088.hp2	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0001 a0005c0009 a0009c0018 a0001c0001 a0005c0009 a0009c0018	a0001c0001t0001 a0001c0001t0008 a0005c0009t0001 others(1): Show a0001c0001t0001 a0001c0001t0008 a0005c0009t0001 a0009c0018t0001	a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0197 others(44): Show a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0284 a0001c0001t0001g0290 a0001c0001t0008g0196 a0001c0001t0008g0210 a0001c0001t0008g0254 a0001c0001t0008g0260 a0001c0001t0008g0261 a0005c0009t0001g0192 a0005c0009t0001g0193 a0009c0018t0001g0237	47	311	0.1511	-20	c.459 others(37): Show c.459-2102_459-2083delGTGTGTGTGTATATATATAT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
SENP6_chr6_75596880_75723281	75638582	GTGTGTGT others(13): Show GTGTGTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02602.hp1 HG02698.hp2 others(4): Show HG02027.hp2 HG02602.hp1 HG02698.hp2 HG04184.hp1 NA18949.hp1 NA18967.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0001 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0189 a0001c0001t0001g0208 a0001c0001t0001g0239 others(4): Show a0001c0001t0001g0189 a0001c0001t0001g0208 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0283 a0001c0001t0004g0314 a0001c0001t0007g0331	7	342	0.0205	-20	c.459 others(37): Show c.459-2100_459-2081delGTGTGTGTATATATATATAT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
SENP7_chr3_101319205_101518212	101456941	TTTTTGTT others(13): Show TTTTTGTTTTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01981.hp2 HG01516.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0320 a0001c0001t0001g0308 a0001c0001t0001g0320	2	113	0.0177	-20	c.284 others(37): Show c.284+1994_284+2013delCAAAACAAAACAAAACAAAA	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101463378	TATATATA others(13): Show TATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0018 a0001c0013t0018	a0001c0013t0018g0018 a0001c0013t0018g0018	1	352	0.0028	-20	c.187 others(37): Show c.187-4346_187-4327delGTATATATATATATATATAT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23			chr3	TogoVar
SEPTIN11_chr4_76944752_77043615	77016615	CATATATA others(13): Show CATATATATATATATACACAT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00738.hp1 HG01943.hp1 others(23): Show HG00544.hp1 HG00738.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02055.hp1 HG02080.hp2 HG02132.hp2 HG02148.hp1 HG02165.hp1 HG02818.hp2 HG03486.hp2 NA18944.hp2 NA18950.hp2 NA18970.hp1 NA18989.hp1 NA18994.hp2 NA18999.hp2 NA19010.hp2 NA19011.hp2 NA19063.hp1 NA19064.hp2 NA19070.hp2 NA19072.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 others(1): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0018	a0001c0001t0006g0006 a0001c0001t0006g0033 a0001c0001t0006g0040 others(21): Show a0001c0001t0006g0006 a0001c0001t0006g0033 a0001c0001t0006g0040 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0006g0045 a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0006g0049 a0001c0001t0006g0051 a0001c0001t0006g0052 a0001c0001t0006g0053 a0001c0001t0006g0057 a0001c0001t0006g0058 a0001c0001t0010g0035 a0001c0001t0010g0036 a0001c0001t0010g0050 a0001c0001t0010g0089 a0001c0001t0011g0007 a0001c0001t0011g0041 a0001c0001t0011g0048 a0001c0001t0018g0161 a0001c0001t0018g0162	26	254	0.1024	-20	c.687 others(37): Show c.687+1614_687+1633delCACATATATATATATATATA	SEPTIN11	ENSG00000138758.12	transcript	ENST00000264893.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEPTIN11_chr4_76944752_77043615	77018178	GCCAGCAC others(13): Show GCCAGCACTTTCGGAGTAATC	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA19043.hp2 HG02970.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0022 a0001c0001t0021 a0001c0001t0022	a0001c0001t0021g0029 a0001c0001t0022g0028 a0001c0001t0021g0029 a0001c0001t0022g0028	2	368	0.0054	-20	c.688 others(35): Show c.688-971_688-952delTAATCCCAGCACTTTCGGAG	SEPTIN11	ENSG00000138758.12	transcript	ENST00000264893.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEPTIN12_chr16_4772606_4793345	4784769	CTAAATAA others(13): Show CTAAATAAATAAATAAATAAA	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0050 a0001c0002t0002g0050	2	101	0.0198	-20	c.375 others(35): Show c.375-721_375-702delTTTATTTATTTATTTATTTA	SEPTIN12	ENSG00000140623.14	transcript	ENST00000268231.13	protein_coding	4/9			chr16	TogoVar
SEPTIN5_chr22_19709503_19728319	19725947	GGCGGTGA others(13): Show GGCGGTGAGGACGCTGTGGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00423.hp2 others(118): Show HG00099.hp2 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG03017.hp2 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18939.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18959.hp2 NA18964.hp1 NA18968.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18990.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp1 NA19005.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19063.hp1 NA19064.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19079.hp1 NA19085.hp1 NA19240.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0003g0001 a0001c0001t0003g0044	121	382	0.3168	-20	c.34 others(31): Show c.3464_*3483delGCGGTGAGGACGCTGTGGAC	SEPTIN5	ENSG00000184702.20	transcript	ENST00000455784.7	protein_coding		2629		chr22	TogoVar
SEPTIN5_chr22_19709503_19728319	19726255	GCGGTGAG others(13): Show GCGGTGAGGACGCTGTCGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	-20	c.37 others(31): Show c.3772_*3791delCGGTGAGGACGCTGTCGGGA	SEPTIN5	ENSG00000184702.20	transcript	ENST00000455784.7	protein_coding		2937		chr22	TogoVar
SEPTIN5_chr22_19709503_19728319	19726494	GGCGGTGA others(13): Show GGCGGTGAGGACGCTGTGGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0009	1	381	0.0026	-20	c.40 others(31): Show c.4011_*4030delGCGGTGAGGACGCTGTGGAC	SEPTIN5	ENSG00000184702.20	transcript	ENST00000455784.7	protein_coding		3176		chr22	TogoVar
SEPTIN5_chr22_19709503_19728319	19726595	ACGGTGAG others(13): Show ACGGTGAGGACGCTGTGGACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	382	0.0026	-20	c.41 others(31): Show c.4112_*4131delCGGTGAGGACGCTGTGGACG	SEPTIN5	ENSG00000184702.20	transcript	ENST00000455784.7	protein_coding		3277		chr22	TogoVar
SEPTIN5_chr22_19709503_19728319	19727385	GGGGGCGG others(13): Show GGGGGCGGTGAGGACGCTGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG03195.hp2 HG03453.hp1 others(2): Show HG02622.hp2 HG03195.hp2 HG03453.hp1 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0064 a0001c0001t0002g0011 a0001c0001t0002g0064	5	382	0.0131	-20	c.49 others(31): Show c.4902_*4921delGGGGCGGTGAGGACGCTGTC	SEPTIN5	ENSG00000184702.20	transcript	ENST00000455784.7	protein_coding		4067		chr22	TogoVar
SEPTIN6_chrX_119611945_119698168	119617099	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 HG02723.hp2 HG02970.hp2 others(3): Show HG01891.hp1 HG02723.hp2 HG02970.hp2 HG03041.hp1 HG03540.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0014	a0001c0001t0002g0016 a0001c0001t0004g0022 a0001c0001t0004g0196 others(3): Show a0001c0001t0002g0016 a0001c0001t0004g0022 a0001c0001t0004g0196 a0001c0001t0004g0204 a0001c0001t0013g0147 a0001c0001t0014g0006	6	38	0.1579	-20	c.29 others(31): Show c.2974_*2993delACACACACACACACACACAC	SEPTIN6	ENSG00000125354.24	transcript	ENST00000394610.7	protein_coding	11/11	8257		chrX	TogoVar
SEPTIN7_chr7_35796057_35912110	35838294	TTCCTTCC others(13): Show TTCCTTCCTTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA19076.hp2 NA19090.hp1 NA18948.hp1 NA19076.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0269 a0001c0001t0010g0303 a0001c0001t0010g0327 a0001c0001t0010g0269 a0001c0001t0010g0303 a0001c0001t0010g0327	3	296	0.0101	-20	c.169 others(37): Show c.169+5398_169+5417delTTCCTTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838298	TTCCTTCC others(13): Show TTCCTTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01978.hp2 HG04115.hp2 others(3): Show HG01106.hp2 HG01978.hp2 HG04115.hp2 NA18970.hp2 NA19010.hp1 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 a0001c0001t0001 a0001c0001t0009 a0001c0001t0012	a0001c0001t0001g0287 a0001c0001t0001g0316 a0001c0001t0001g0317 others(3): Show a0001c0001t0001g0287 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0009g0297 a0001c0001t0012g0232 a0001c0001t0012g0260	6	291	0.0206	-20	c.169 others(37): Show c.169+5402_169+5421delTTCCCTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838302	TTCCCTCC others(13): Show TTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG04204.hp2 NA19001.hp2 HG02559.hp1 HG04204.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0249 a0001c0001t0001g0276 a0001c0001t0009g0229 a0001c0001t0001g0249 a0001c0001t0001g0276 a0001c0001t0009g0229	3	284	0.0106	-20	c.169 others(37): Show c.169+5446_169+5465delCTCCCTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN9_chr17_77276499_77505593	77351228	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01346.hp2 HG03041.hp1 others(3): Show HG01123.hp2 HG01346.hp2 HG03041.hp1 HG04204.hp1 NA18522.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0004 a0002c0002t0016 a0002c0002t0042	a0001c0001t0001g0138 a0001c0001t0002g0116 a0001c0001t0005g0030 others(3): Show a0001c0001t0001g0138 a0001c0001t0002g0116 a0001c0001t0005g0030 a0002c0002t0004g0025 a0002c0002t0016g0120 a0002c0002t0042g0032	6	25	0.2400	-20	c.76+ others(37): Show c.76+44054_76+44073delACACACACACACACACACAC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77422663	TCCATCCC others(13): Show TCCATCCCCATGAAACCGGGC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02056.hp1 HG02129.hp2 others(19): Show HG02040.hp1 HG02056.hp1 HG02129.hp2 HG02145.hp1 HG02451.hp1 HG02486.hp2 HG02602.hp1 HG02647.hp1 HG02809.hp1 HG02895.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03831.hp2 NA18612.hp1 NA18612.hp2 NA18969.hp1 NA18983.hp2 NA19030.hp2 NA19074.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0028 a0001c0001t0033 a0001c0001t0034 a0001c0001t0053 a0001c0001t0054 a0001c0009t0030 a0002c0002t0010 a0002c0002t0024	a0001c0001t0001g0044 a0001c0001t0001g0079 a0001c0001t0001g0085 others(19): Show a0001c0001t0001g0044 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0002g0081 a0001c0001t0002g0119 a0001c0001t0003g0062 a0001c0001t0006g0066 a0001c0001t0008g0021 a0001c0001t0008g0022 a0001c0001t0011g0053 a0001c0001t0011g0139 a0001c0001t0012g0142 a0001c0001t0028g0134 a0001c0001t0033g0045 a0001c0001t0034g0043 a0001c0001t0053g0010 a0001c0001t0054g0006 a0001c0009t0030g0150 a0002c0002t0010g0136 a0002c0002t0024g0001	22	148	0.1486	-20	c.721 others(39): Show c.721+19976_721+19995delCGGGCCCATCCCCATGAAAC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77351228	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01346.hp1 HG03041.hp2 others(3): Show HG01123.hp2 HG01346.hp1 HG03041.hp2 HG04204.hp2 NA18522.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0002c0002t0013 a0002c0002t0026	a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0002g0098 others(3): Show a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0002g0098 a0002c0002t0003g0117 a0002c0002t0013g0099 a0002c0002t0026g0118	6	32	0.1875	-20	c.22+ others(37): Show c.22+30903_22+30922delACACACACACACACACACAC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77422663	TCCATCCC others(13): Show TCCATCCCCATGAAACCGGGC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02056.hp2 HG02129.hp2 others(17): Show HG02040.hp2 HG02056.hp2 HG02129.hp2 HG02145.hp1 HG02486.hp1 HG02602.hp2 HG02647.hp1 HG02809.hp2 HG02895.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03654.hp1 HG03831.hp2 HG04115.hp2 NA18969.hp1 NA18983.hp2 NA19030.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0002 a0001c0001 a0001c0010 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021 a0001c0001t0024 a0001c0001t0042 a0001c0001t0045 a0001c0001t0058 a0001c0010t0035 a0002c0002t0003 a0002c0002t0012	a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0025 others(17): Show a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0147 a0001c0001t0002g0052 a0001c0001t0002g0156 a0001c0001t0004g0031 a0001c0001t0004g0081 a0001c0001t0005g0028 a0001c0001t0015g0148 a0001c0001t0018g0006 a0001c0001t0021g0157 a0001c0001t0021g0158 a0001c0001t0024g0069 a0001c0001t0042g0082 a0001c0001t0045g0001 a0001c0001t0058g0076 a0001c0010t0035g0061 a0002c0002t0003g0026 a0002c0002t0012g0103	20	156	0.1282	-20	c.667 others(39): Show c.667+19976_667+19995delCGGGCCCATCCCCATGAAAC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERAC1_chr6_158104519_158173262	158143335	CTCTCTCT others(13): Show CTCTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	327	0.0031	-20	c.610 others(35): Show c.610-171_610-152delTATATATAGAGAGAGAGAGA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	7/16			chr6	TogoVar
SERAC1_chr6_158104519_158173262	158143337	CTCTCTCT others(13): Show CTCTCTCTCTCTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	317	0.0032	-20	c.610 others(35): Show c.610-173_610-154delTATATATATAGAGAGAGAGA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	7/16			chr6	TogoVar
SERAC1_chr6_158104519_158173262	158147768	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp1 HG01074.hp2 others(23): Show HG00735.hp1 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01346.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01978.hp1 HG02735.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp2 NA19086.hp1 NA20752.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 a0004c0004t0001	a0001c0001t0001g0029 a0001c0001t0001g0199 a0001c0001t0001g0200 others(17): Show a0001c0001t0001g0029 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0233 a0001c0001t0001g0310 a0001c0001t0005g0003 a0001c0001t0005g0189 a0001c0001t0005g0191 a0001c0001t0005g0232 a0001c0001t0005g0234 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0018g0209 a0004c0004t0001g0023	26	89	0.2921	-20	c.356 others(35): Show c.356-875_356-856delTTTTTTTTTTTTTTTTTTTT	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	5/16			chr6	TogoVar
SERAC1_chr6_158104519_158173262	158156899	GATATTAA others(13): Show GATATTAATATATTTATATAA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp1 HG01074.hp2 others(28): Show HG00735.hp1 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01978.hp1 HG02735.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp2 NA19086.hp1 NA20752.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 a0004c0004t0001	a0001c0001t0001g0029 a0001c0001t0001g0199 a0001c0001t0001g0200 others(22): Show a0001c0001t0001g0029 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0233 a0001c0001t0001g0310 a0001c0001t0002g0038 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0076 a0001c0001t0002g0194 a0001c0001t0005g0003 a0001c0001t0005g0189 a0001c0001t0005g0191 a0001c0001t0005g0232 a0001c0001t0005g0234 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0018g0209 a0004c0004t0001g0023	31	364	0.0852	-20	c.91+ others(35): Show c.91+1354_91+1373delTTATATAAATATATTAATAT	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	2/16			chr6	TogoVar
SERBP1_chr1_67402810_67435402	67409403	ACACACAC others(13): Show ACACACACACACACACACCCC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp2 HG06807.hp1 HG01106.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0227 a0001c0001t0012g0159 a0001c0001t0003g0227 a0001c0001t0012g0159	2	366	0.0055	-20	c.37 others(31): Show c.3784_*3803delGGGGTGTGTGTGTGTGTGTG	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding	8/8	3784		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67422960	CAAACAAA others(13): Show CAAACAAAACAAAACAAAACA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0191 a0001c0001t0082g0191	1	17	0.0588	-20	c.773 others(37): Show c.773+1220_773+1239delTGTTTTGTTTTGTTTTGTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding	5/7			chr1	TogoVar
SERGEF_chr11_17783048_18018047	17888628	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG01496.hp1 others(9): Show HG01109.hp1 HG01109.hp2 HG01496.hp1 HG02056.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02965.hp2 HG03139.hp2 HG03225.hp1 HG04228.hp1 NA18522.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0002c0003t0001 a0007c0008t0002	a0001c0001t0001g0103 a0001c0001t0001g0114 a0001c0001t0001g0116 others(9): Show a0001c0001t0001g0103 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0002g0139 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0002t0002g0176 a0002c0003t0001g0016 a0002c0003t0001g0075 a0007c0008t0002g0136	12	36	0.3333	-20	c.101 others(41): Show c.1012-10404_1012-10385delGTGTGTGTGTGTGTGTGTGT	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10			chr11	TogoVar

Search by Variant

Search

Search Results