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
SOX5_chr12_23524504_23954670	23570930	AATATATA others(3): Show AATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18994.hp2 HG02486.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0036 a0001c0001t0024 a0001c0001t0036	a0001c0001t0024g0034 a0001c0001t0036g0117 a0001c0001t0024g0034 a0001c0001t0036g0117	2	212	0.0094	-10	c.134 others(29): Show c.1342+4721_1342+4730delATATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23578117	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18994.hp2 HG02040.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0024 a0001c0001t0009 a0001c0001t0024	a0001c0001t0009g0053 a0001c0001t0024g0034 a0001c0001t0009g0053 a0001c0001t0024g0034	2	212	0.0094	-10	c.116 others(29): Show c.1165-2289_1165-2280delTTTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23595618	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02809.hp1 HG02976.hp1 others(2): Show HG01243.hp1 HG02809.hp1 HG02976.hp1 HG03453.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0031 a0001c0001t0044 a0001c0001t0004 a0001c0001t0031 a0001c0001t0044	a0001c0001t0004g0025 a0001c0001t0004g0030 a0001c0001t0004g0210 others(2): Show a0001c0001t0004g0025 a0001c0001t0004g0030 a0001c0001t0004g0210 a0001c0001t0031g0031 a0001c0001t0044g0206	5	212	0.0236	-10	c.116 others(29): Show c.1164+8759_1164+8768delTTTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23598387	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02976.hp1 HG03453.hp1 others(2): Show HG02809.hp1 HG02976.hp1 HG03453.hp1 HG03486.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0031 a0001c0001t0001 a0001c0001t0004 a0001c0001t0031	a0001c0001t0001g0155 a0001c0001t0004g0025 a0001c0001t0004g0030 others(2): Show a0001c0001t0001g0155 a0001c0001t0004g0025 a0001c0001t0004g0030 a0001c0001t0004g0210 a0001c0001t0031g0031	5	212	0.0236	-10	c.116 others(29): Show c.1164+5990_1164+5999delAAAAAAAAAA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23611369	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02970.hp1 HG02896.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0018 a0001c0001t0006 a0001c0001t0018	a0001c0001t0006g0068 a0001c0001t0018g0169 a0001c0001t0006g0068 a0001c0001t0018g0169	2	212	0.0094	-10	c.101 others(29): Show c.1018-6846_1018-6837delACACACACAC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	8/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23690346	CACATAGA others(3): Show CACATAGAAAG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02622.hp2 others(2): Show HG02109.hp2 HG02258.hp1 HG02622.hp2 HG02896.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0025 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0025 a0001c0001t0117 a0001c0001t0120	a0001c0001t0001g0182 a0001c0001t0003g0153 a0001c0001t0025g0204 others(2): Show a0001c0001t0001g0182 a0001c0001t0003g0153 a0001c0001t0025g0204 a0001c0001t0117g0083 a0001c0001t0120g0107	5	212	0.0236	-10	c.811 others(29): Show c.811-24792_811-24783delCTTTCTATGT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23726118	CGAGAGAG others(3): Show CGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0116 a0001c0001t0012g0116	1	212	0.0047	-10	c.810 others(27): Show c.810+8556_810+8565delTCTCTCTCTC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23759030	GACACACA others(3): Show GACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02647.hp1 others(2): Show HG01168.hp1 HG01169.hp1 HG02647.hp1 HG02922.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0060 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0060 a0001c0001t0113	a0001c0001t0001g0155 a0001c0001t0007g0164 a0001c0001t0007g0165 others(2): Show a0001c0001t0001g0155 a0001c0001t0007g0164 a0001c0001t0007g0165 a0001c0001t0060g0156 a0001c0001t0113g0008	5	212	0.0236	-10	c.482 others(27): Show c.482-3316_482-3307delGTGTGTGTGT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23779955	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03486.hp2 HG03540.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0081 a0001c0001t0002 a0001c0001t0004 a0001c0001t0081	a0001c0001t0002g0194 a0001c0001t0004g0210 a0001c0001t0081g0193 a0001c0001t0002g0194 a0001c0001t0004g0210 a0001c0001t0081g0193	3	212	0.0142	-10	c.482 others(29): Show c.482-24241_482-24232delCACACACACA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23804915	TTATATAT others(3): Show TTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01168.hp2 HG01243.hp2 others(10): Show HG01106.hp1 HG01168.hp2 HG01243.hp2 HG02148.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG03130.hp1 HG03209.hp2 HG03579.hp2 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0018 a0001c0001t0022 a0001c0001t0027 a0001c0001t0031 a0001c0001t0060 a0001c0001t0083 a0001c0001t0084 a0001c0001t0110 a0001c0001t0114	a0001c0001t0001g0150 a0001c0001t0003g0208 a0001c0001t0004g0148 others(10): Show a0001c0001t0001g0150 a0001c0001t0003g0208 a0001c0001t0004g0148 a0001c0001t0012g0116 a0001c0001t0018g0059 a0001c0001t0022g0171 a0001c0001t0027g0146 a0001c0001t0031g0005 a0001c0001t0060g0156 a0001c0001t0083g0090 a0001c0001t0084g0207 a0001c0001t0110g0056 a0001c0001t0114g0119	13	212	0.0613	-10	c.481 others(29): Show c.481+41058_481+41067delTATATATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23860952	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0072 a0001c0001t0090g0072	1	212	0.0047	-10	c.271 others(29): Show c.271-14769_271-14760delTTTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	2/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23863793	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03225.hp2 HG03209.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0114 a0001c0001t0054 a0001c0001t0114	a0001c0001t0054g0154 a0001c0001t0114g0119 a0001c0001t0054g0154 a0001c0001t0114g0119	2	212	0.0094	-10	c.271 others(29): Show c.271-17610_271-17601delGTGTGTGTGT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	2/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	15979042	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18906.hp2 HG03516.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0041 a0001c0001t0003 a0001c0001t0041	a0001c0001t0003g0121 a0001c0001t0041g0037 a0001c0001t0003g0121 a0001c0001t0041g0037	2	218	0.0092	-10	c.218 others(29): Show c.2184-5940_2184-5931delATATATATAT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	15/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	15996685	ACAAAAGA others(3): Show ACAAAAGACTT	A A	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18979.hp2 NA18982.hp1 others(2): Show NA18947.hp1 NA18979.hp2 NA18982.hp1 NA19009.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0002t0040 a0001c0004t0003 a0001c0002t0003 a0001c0002t0040 a0001c0004t0003	a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0003g0134 others(2): Show a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0003g0134 a0001c0002t0040g0135 a0001c0004t0003g0200	5	218	0.0229	-10	c.173 others(29): Show c.1733-7465_1733-7456delAAGTCTTTTG	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	13/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16010125	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01099.hp2 others(25): Show HG00738.hp1 HG01069.hp1 HG01099.hp2 HG01109.hp1 HG01256.hp2 HG01433.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG02056.hp2 HG02071.hp2 HG02273.hp2 HG02300.hp2 HG02683.hp2 HG02738.hp1 HG04228.hp1 NA18941.hp2 NA18971.hp2 NA18982.hp2 NA18986.hp1 NA18990.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19003.hp2 NA19054.hp1 NA19060.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 others(7): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0026 a0001c0001t0027 a0001c0002t0004 a0001c0002t0006 a0001c0002t0019 a0001c0002t0028 a0001c0004t0006	a0001c0001t0004g0014 a0001c0001t0004g0016 a0001c0001t0004g0065 others(25): Show a0001c0001t0004g0014 a0001c0001t0004g0016 a0001c0001t0004g0065 a0001c0001t0004g0097 a0001c0001t0004g0112 a0001c0001t0004g0118 a0001c0001t0004g0127 a0001c0001t0004g0137 a0001c0001t0004g0173 a0001c0001t0004g0183 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0199 a0001c0001t0004g0202 a0001c0001t0006g0126 a0001c0001t0007g0129 a0001c0001t0007g0156 a0001c0001t0007g0180 a0001c0001t0007g0182 a0001c0001t0007g0206 a0001c0001t0026g0207 a0001c0001t0027g0181 a0001c0002t0004g0189 a0001c0002t0004g0190 a0001c0002t0006g0136 a0001c0002t0019g0001 a0001c0002t0028g0117 a0001c0004t0006g0201	28	218	0.1284	-10	c.173 others(29): Show c.1732+4807_1732+4816delGTGTGTGTGT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	13/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16047701	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03704.hp1 NA18947.hp2 HG03486.hp1 HG03704.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0030 a0001c0001t0005 a0001c0001t0017 a0001c0001t0030	a0001c0001t0005g0091 a0001c0001t0017g0032 a0001c0001t0030g0205 a0001c0001t0005g0091 a0001c0001t0017g0032 a0001c0001t0030g0205	3	218	0.0138	-10	c.143 others(29): Show c.1436-1010_1436-1001delACACACACAC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	11/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16063496	TTATATAT others(3): Show TTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01496.hp2 HG01952.hp2 others(16): Show HG01256.hp2 HG01496.hp2 HG01952.hp2 HG02083.hp1 HG02273.hp1 HG02300.hp1 HG02886.hp1 HG02886.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp2 NA18906.hp2 NA18948.hp1 NA18968.hp2 NA18977.hp2 NA19066.hp2 NA19085.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0017 a0001c0001t0024 a0001c0001t0041 a0001c0002t0001 a0001c0002t0003 a0001c0003t0010	a0001c0001t0002g0051 a0001c0001t0002g0081 a0001c0001t0002g0082 others(16): Show a0001c0001t0002g0051 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0122 a0001c0001t0002g0208 a0001c0001t0003g0121 a0001c0001t0003g0123 a0001c0001t0005g0086 a0001c0001t0005g0113 a0001c0001t0005g0169 a0001c0001t0007g0206 a0001c0001t0012g0125 a0001c0001t0017g0032 a0001c0001t0024g0104 a0001c0001t0041g0037 a0001c0002t0001g0150 a0001c0002t0001g0159 a0001c0002t0003g0055 a0001c0003t0010g0114	19	218	0.0872	-10	c.110 others(29): Show c.1102-7605_1102-7596delTATATATATA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	9/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16076735	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG02818.hp1 others(2): Show HG02055.hp1 HG02258.hp2 HG02818.hp1 HG02818.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0022 a0001c0001t0003g0005 a0001c0001t0003g0031 others(2): Show a0001c0001t0001g0022 a0001c0001t0003g0005 a0001c0001t0003g0031 a0001c0001t0005g0034 a0001c0001t0005g0098	5	218	0.0229	-10	c.110 others(31): Show c.1101+19251_1101+19260delAAAAAAAAAA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	9/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16107386	CATATATA others(3): Show CATATATATGT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02055.hp1 HG02818.hp2 others(2): Show HG01069.hp2 HG02055.hp1 HG02818.hp2 HG02896.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001	a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0005g0034 others(2): Show a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0005g0034 a0001c0001t0005g0098 a0001c0002t0001g0195	5	218	0.0229	-10	c.898 others(27): Show c.898+4407_898+4416delACATATATAT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	7/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16107408	TATATATA others(3): Show TATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	218	0.0046	-10	c.898 others(27): Show c.898+4385_898+4394delGTATATATAT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	7/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132411	AAGAAAGA others(3): Show AAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0045 a0001c0001t0015g0045	1	218	0.0046	-10	c.778 others(29): Show c.778-20498_778-20489delCTTTCTTTCT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16191853	CTTTTTTT others(3): Show CTTTTTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01891.hp1 HG00639.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0046 a0001c0001t0044 a0001c0001t0046	a0001c0001t0044g0218 a0001c0001t0046g0217 a0001c0001t0044g0218 a0001c0001t0046g0217	2	218	0.0092	-10	c.536 others(27): Show c.536-4908_536-4899delAGAAAAAAAA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	4/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16240275	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0192 a0001c0001t0006g0192	1	218	0.0046	-10	c.446 others(27): Show c.446-5614_446-5605delACACACACAC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	3/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16283019	GTATATAT others(3): Show GTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00738.hp1 others(34): Show HG00408.hp2 HG00597.hp2 HG00738.hp1 HG01069.hp2 HG01243.hp2 HG01256.hp2 HG01433.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG02027.hp2 HG02040.hp2 HG02155.hp1 HG02273.hp2 HG02300.hp2 HG03139.hp1 HG03579.hp1 HG03704.hp1 NA18612.hp2 NA18941.hp2 NA18948.hp1 NA18964.hp1 NA18971.hp2 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19058.hp1 NA19060.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0018 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0011 a0001c0002t0019 a0001c0004t0003 a0001c0004t0006 a0002c0005t0016	a0001c0001t0001g0176 a0001c0001t0001g0204 a0001c0001t0002g0208 others(34): Show a0001c0001t0001g0176 a0001c0001t0001g0204 a0001c0001t0002g0208 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0004g0127 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0193 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0199 a0001c0001t0004g0202 a0001c0001t0006g0126 a0001c0001t0006g0128 a0001c0001t0006g0179 a0001c0001t0006g0192 a0001c0001t0006g0194 a0001c0001t0006g0198 a0001c0001t0006g0203 a0001c0001t0007g0129 a0001c0001t0007g0180 a0001c0001t0007g0182 a0001c0001t0007g0206 a0001c0001t0018g0130 a0001c0001t0026g0207 a0001c0001t0027g0181 a0001c0001t0030g0205 a0001c0002t0001g0195 a0001c0002t0003g0191 a0001c0002t0004g0189 a0001c0002t0004g0190 a0001c0002t0011g0188 a0001c0002t0019g0001 a0001c0004t0003g0200 a0001c0004t0006g0201 a0002c0005t0016g0187	37	218	0.1697	-10	c.445 others(29): Show c.445+35417_445+35426delTATATATATA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	3/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16287257	GTCTCTCT others(3): Show GTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01952.hp2 NA18612.hp2 others(1): Show HG00639.hp1 HG01952.hp2 NA18612.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0046	a0001c0001t0004g0111 a0001c0001t0005g0113 a0001c0001t0006g0198 others(1): Show a0001c0001t0004g0111 a0001c0001t0005g0113 a0001c0001t0006g0198 a0001c0001t0046g0217	4	218	0.0184	-10	c.445 others(29): Show c.445+31179_445+31188delGAGAGAGAGA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	3/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16291229	TTATATAT others(3): Show TTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0033 a0001c0001t0035g0033	1	218	0.0046	-10	c.445 others(29): Show c.445+27207_445+27216delTATATATATA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	3/15			chr11	TogoVar
SOX7_chr8_10718768_10735511	10735243	TCACACAC others(3): Show TCACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	462	0.0022	-10	c.-48 others(21): Show c.-4820_-4811delTGTGTGTGTG	SOX7	ENSG00000171056.8	transcript	ENST00000304501.2	protein_coding		4733		chr8	TogoVar
SOX8_chr16_976770_991979	981297	TGTGTGTG others(3): Show TGTGTGTGAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0002 a0001c0003t0002g0002	1	434	0.0023	-10	c.-62 others(19): Show c.-625_-616delGTGTGTGAGA	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		472		chr16	TogoVar
SOX8_chr16_976770_991979	981299	TGTGTGAG others(3): Show TGTGTGAGAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00621.hp2 others(36): Show HG00544.hp2 HG00558.hp2 HG00621.hp2 HG01099.hp2 HG01123.hp2 HG01168.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01943.hp1 HG02004.hp1 HG02074.hp2 HG02109.hp1 HG02148.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02886.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 NA18940.hp1 NA18942.hp2 NA18947.hp2 NA18953.hp2 NA18960.hp1 NA18967.hp1 NA18989.hp1 NA18990.hp2 NA19004.hp2 NA19010.hp2 NA19056.hp2 NA19063.hp2 NA19065.hp2 NA19067.hp2 NA19072.hp2 NA19084.hp2 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0013 others(1): Show a0001c0002 a0001c0003 a0002c0013 a0003c0007	a0001c0002t0011 a0001c0003t0002 a0001c0003t0009 others(6): Show a0001c0002t0011 a0001c0003t0002 a0001c0003t0009 a0001c0003t0010 a0001c0003t0017 a0001c0003t0026 a0001c0003t0050 a0002c0013t0010 a0003c0007t0002	a0001c0002t0011g0002 a0001c0002t0011g0013 a0001c0003t0002g0002 others(8): Show a0001c0002t0011g0002 a0001c0002t0011g0013 a0001c0003t0002g0002 a0001c0003t0002g0004 a0001c0003t0009g0002 a0001c0003t0010g0002 a0001c0003t0017g0004 a0001c0003t0026g0002 a0001c0003t0050g0002 a0002c0013t0010g0002 a0003c0007t0002g0002	39	434	0.0899	-10	c.-62 others(19): Show c.-623_-614delGTGTGAGAGA	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		470		chr16	TogoVar
SOX8_chr16_976770_991979	981339	AGAGAGAG others(3): Show AGAGAGAGAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01243.hp1 HG00639.hp2 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0001 a0001c0002t0003g0003 a0001c0001t0001g0001 a0001c0002t0003g0003	2	434	0.0046	-10	c.-58 others(19): Show c.-583_-574delGAGAGAGAGT	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		430		chr16	TogoVar
SOX8_chr16_976770_991979	981341	AGAGAGAG others(3): Show AGAGAGAGTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG02486.hp2 HG01106.hp1 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0002 a0001c0003t0002g0002	2	434	0.0046	-10	c.-58 others(19): Show c.-581_-572delGAGAGAGTGT	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		428		chr16	TogoVar
SOX8_chr16_976770_991979	981343	AGAGAGTG others(3): Show AGAGAGTGTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02717.hp2 HG02698.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0001 a0001c0003t0002g0002 a0001c0001t0001g0001 a0001c0003t0002g0002	2	434	0.0046	-10	c.-57 others(19): Show c.-579_-570delGAGAGTGTGT	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		426		chr16	TogoVar
SOX8_chr16_976770_991979	981347	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 NA18956.hp1 HG02886.hp2 NA18956.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0006 a0001c0002 a0003c0006	a0001c0002t0011 a0003c0006t0001 a0001c0002t0011 a0003c0006t0001	a0001c0002t0011g0002 a0003c0006t0001g0001 a0001c0002t0011g0002 a0003c0006t0001g0001	2	434	0.0046	-10	c.-57 others(19): Show c.-575_-566delGTGTGTGTGT	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		422		chr16	TogoVar
SOX8_chr16_976770_991979	990815	ATGCCCAG others(3): Show ATGCCCAGGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0001 a0001c0001t0013g0001	1	434	0.0023	-10	c.54 others(21): Show c.5430_*5439delTGCCCAGGAC	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		3837		chr16	TogoVar
SP100_chr2_230411201_230550606	230438648	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0140 a0002c0005t0001g0140	1	290	0.0035	-10	c.108 others(27): Show c.108-4259_108-4250delCACACACACA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230460592	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18950.hp1 HG02523.hp2 NA18950.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0003 a0002c0002t0001 a0001c0003t0003 a0002c0002t0001	a0001c0003t0003g0062 a0002c0002t0001g0232 a0001c0003t0003g0062 a0002c0002t0001g0232	2	290	0.0069	-10	c.821 others(25): Show c.821-637_821-628delTTTTTTTTTT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	8/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230468817	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0243 a0002c0002t0001g0243	1	290	0.0035	-10	c.129 others(27): Show c.1292-211_1292-202delAAAAAAAAAA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230487696	TTCTAATT others(3): Show TTCTAATTCTG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02630.hp1 HG02647.hp2 others(6): Show HG02145.hp2 HG02630.hp1 HG02647.hp2 HG02897.hp2 HG02970.hp1 HG03209.hp1 NA18522.hp2 NA18906.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0006 a0001c0001t0006 a0001c0003t0006	a0001c0001t0006g0087 a0001c0001t0006g0089 a0001c0001t0006g0092 others(6): Show a0001c0001t0006g0087 a0001c0001t0006g0089 a0001c0001t0006g0092 a0001c0001t0006g0096 a0001c0001t0006g0123 a0001c0001t0006g0126 a0001c0001t0006g0251 a0001c0003t0006g0046 a0001c0003t0006g0090	9	290	0.0310	-10	c.160 others(29): Show c.1601-6708_1601-6699delCTAATTCTGT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	17/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497488	GGAGGAGA others(3): Show GGAGGAGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG02074.hp2 others(10): Show HG00323.hp2 HG00733.hp2 HG02074.hp2 HG02145.hp2 HG02280.hp1 HG02293.hp1 HG02897.hp2 HG03130.hp1 HG03540.hp2 HG03669.hp2 NA18522.hp2 NA18906.hp2 NA19009.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0003 a0001c0001t0006 a0001c0001t0021 others(5): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0021 a0001c0001t0026 a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0003c0004t0003	a0001c0001t0003g0084 a0001c0001t0006g0123 a0001c0001t0006g0251 others(10): Show a0001c0001t0003g0084 a0001c0001t0006g0123 a0001c0001t0006g0251 a0001c0001t0021g0287 a0001c0001t0026g0059 a0001c0003t0002g0099 a0001c0003t0003g0274 a0001c0003t0006g0046 a0001c0003t0006g0090 a0003c0004t0003g0145 a0003c0004t0003g0164 a0003c0004t0003g0208 a0003c0004t0003g0238	13	290	0.0448	-10	c.164 others(27): Show c.1646-922_1646-913delGAGGAGAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497539	GAGGAGAG others(3): Show GAGGAGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02647.hp2 HG01123.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0267 a0001c0001t0006g0089 a0001c0001t0002g0267 a0001c0001t0006g0089	2	290	0.0069	-10	c.164 others(27): Show c.1646-917_1646-908delGAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497544	GAGGAAAG others(3): Show GAGGAAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp1 HG01361.hp2 others(15): Show HG00323.hp1 HG00735.hp1 HG01361.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp2 HG02809.hp1 HG03130.hp1 HG03225.hp2 HG03831.hp1 HG04184.hp2 NA18939.hp2 NA18950.hp2 NA18969.hp1 NA18970.hp2 NA18978.hp2 NA18984.hp2 NA19054.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0003 a0001c0007 others(4): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0005 a0002c0021 a0010c0012	a0001c0001t0006 a0001c0001t0021 a0001c0003t0007 others(7): Show a0001c0001t0006 a0001c0001t0021 a0001c0003t0007 a0001c0003t0017 a0001c0007t0014 a0002c0002t0001 a0002c0002t0024 a0002c0005t0005 a0002c0021t0001 a0010c0012t0009	a0001c0001t0006g0094 a0001c0001t0021g0287 a0001c0003t0007g0110 others(15): Show a0001c0001t0006g0094 a0001c0001t0021g0287 a0001c0003t0007g0110 a0001c0003t0007g0114 a0001c0003t0017g0137 a0001c0007t0014g0029 a0002c0002t0001g0014 a0002c0002t0001g0077 a0002c0002t0001g0106 a0002c0002t0001g0146 a0002c0002t0001g0193 a0002c0002t0001g0222 a0002c0002t0001g0233 a0002c0002t0001g0252 a0002c0002t0024g0214 a0002c0005t0005g0023 a0002c0021t0001g0100 a0010c0012t0009g0086	18	290	0.0621	-10	c.164 others(27): Show c.1646-852_1646-843delAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230506782	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03098.hp2 HG03130.hp1 others(3): Show HG02258.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 NA19043.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0013 a0001c0001 a0001c0003 a0005c0013	a0001c0001t0021 a0001c0003t0012 a0005c0013t0025 a0001c0001t0021 a0001c0003t0012 a0005c0013t0025	a0001c0001t0021g0287 a0001c0003t0012g0041 a0001c0003t0012g0044 others(3): Show a0001c0001t0021g0287 a0001c0003t0012g0041 a0001c0003t0012g0044 a0001c0003t0012g0045 a0001c0003t0012g0258 a0005c0013t0025g0160	6	290	0.0207	-10	c.201 others(27): Show c.2013+371_2013+380delCACACACACA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	22/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230508938	CACACACA others(3): Show CACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0271 a0001c0001t0004g0271	1	290	0.0035	-10	c.205 others(27): Show c.2052+917_2052+926delTACACACACA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230510473	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01978.hp2 HG02280.hp2 others(4): Show HG01258.hp1 HG01978.hp2 HG02280.hp2 HG02559.hp1 HG02723.hp2 HG03540.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0007 a0001c0003t0004 others(2): Show a0001c0001t0004 a0001c0001t0007 a0001c0003t0004 a0001c0003t0007 a0001c0003t0012	a0001c0001t0004g0048 a0001c0001t0007g0172 a0001c0003t0004g0124 others(4): Show a0001c0001t0004g0048 a0001c0001t0007g0172 a0001c0003t0004g0124 a0001c0003t0007g0110 a0001c0003t0007g0135 a0001c0003t0007g0250 a0001c0003t0012g0044	7	290	0.0241	-10	c.205 others(27): Show c.2053-602_2053-593delTTTTTTTTTT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230512276	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00735.hp2 HG01123.hp1 others(31): Show HG00544.hp2 HG00735.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01358.hp1 HG01516.hp1 HG01891.hp1 HG01981.hp2 HG02132.hp1 HG02148.hp2 HG02155.hp2 HG02258.hp2 HG02293.hp1 HG02523.hp2 HG02723.hp2 HG02735.hp1 HG03239.hp1 HG03471.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp2 NA18957.hp1 NA19002.hp2 NA19003.hp2 NA19010.hp1 NA19030.hp2 NA19067.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19087.hp2	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0003c0004 a0011c0011	a0001c0001t0003 a0001c0001t0004 a0001c0003t0003 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0003t0003 a0001c0007t0017 a0003c0004t0003 a0011c0011t0003	a0001c0001t0003g0055 a0001c0001t0003g0069 a0001c0001t0003g0072 others(31): Show a0001c0001t0003g0055 a0001c0001t0003g0069 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0076 a0001c0001t0003g0084 a0001c0001t0003g0093 a0001c0001t0003g0142 a0001c0001t0003g0199 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0003t0003g0021 a0001c0003t0003g0062 a0001c0003t0003g0138 a0001c0003t0003g0182 a0001c0003t0003g0184 a0001c0003t0003g0197 a0001c0003t0003g0202 a0001c0003t0003g0213 a0001c0003t0003g0226 a0001c0007t0017g0030 a0003c0004t0003g0015 a0003c0004t0003g0102 a0003c0004t0003g0111 a0003c0004t0003g0113 a0003c0004t0003g0115 a0003c0004t0003g0132 a0003c0004t0003g0136 a0003c0004t0003g0141 a0003c0004t0003g0161 a0003c0004t0003g0188 a0003c0004t0003g0254 a0003c0004t0003g0272 a0011c0011t0003g0085	34	290	0.1172	-10	c.209 others(29): Show c.2094+1132_2094+1141delTTTTTTTTTT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	24/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230545879	AGCCTGTG others(3): Show AGCCTGTGGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 NA19030.hp2 HG03225.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0017 a0001c0007t0017 a0001c0003t0017 a0001c0007t0017	a0001c0003t0017g0137 a0001c0007t0017g0030 a0001c0003t0017g0137 a0001c0007t0017g0030	2	290	0.0069	-10	c.29 others(21): Show c.2934_*2943delGCCTGTGGTG	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding		274		chr2	TogoVar
SP110_chr2_230160186_230224984	230204740	TAGAAATT others(3): Show TAGAAATTATG	T T	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0302 a0006c0005t0001g0302	1	428	0.0023	-10	c.899 others(27): Show c.899-2022_899-2013delCATAATTTCT	SP110	ENSG00000135899.20	transcript	ENST00000258381.11	protein_coding	8/18			chr2	TogoVar
SP110_chr2_230160186_230224984	230206595	TTATATAT others(3): Show TTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02886.hp1 HG03195.hp1 others(8): Show HG02572.hp2 HG02886.hp1 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18906.hp2 NA19240.hp1 NA20129.hp1	a0001 a0004 a0009 others(2): Show a0001 a0004 a0009 a0012 a0017	a0001c0001 a0004c0012 a0009c0029 others(2): Show a0001c0001 a0004c0012 a0009c0029 a0012c0024 a0017c0026	a0001c0001t0001 a0001c0001t0058 a0004c0012t0013 others(5): Show a0001c0001t0001 a0001c0001t0058 a0004c0012t0013 a0004c0012t0028 a0004c0012t0056 a0009c0029t0014 a0012c0024t0002 a0017c0026t0013	a0001c0001t0001g0233 a0001c0001t0058g0160 a0004c0012t0013g0029 others(8): Show a0001c0001t0001g0233 a0001c0001t0058g0160 a0004c0012t0013g0029 a0004c0012t0013g0287 a0004c0012t0013g0292 a0004c0012t0013g0304 a0004c0012t0028g0291 a0004c0012t0056g0200 a0009c0029t0014g0138 a0012c0024t0002g0159 a0017c0026t0013g0114	11	428	0.0257	-10	c.898 others(27): Show c.898+1386_898+1395delTATATATATA	SP110	ENSG00000135899.20	transcript	ENST00000258381.11	protein_coding	8/18			chr2	TogoVar
SP110_chr2_230160186_230224984	230224440	GGAGGGAG others(3): Show GGAGGGAGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02970.hp2 HG02976.hp1 others(3): Show HG02717.hp1 HG02970.hp2 HG02976.hp1 HG03139.hp1 HG03139.hp2 NA19043.hp2	a0001 a0008 a0032 a0001 a0008 a0032	a0001c0001 a0008c0011 a0032c0040 a0001c0001 a0008c0011 a0032c0040	a0001c0001t0001 a0001c0001t0005 a0008c0011t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0008c0011t0001 a0032c0040t0001	a0001c0001t0001g0044 a0001c0001t0001g0134 a0001c0001t0001g0140 others(3): Show a0001c0001t0001g0044 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0005g0133 a0008c0011t0001g0135 a0032c0040t0001g0131	6	428	0.0140	-10	c.-45 others(21): Show c.-4578_-4569delTCTCTCCCTC	SP110	ENSG00000135899.20	transcript	ENST00000258381.11	protein_coding		4457		chr2	TogoVar
SP140L_chr2_230322193_230408732	230354942	AAGAAAGA others(3): Show AAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	336	0.0030	-10	c.108 others(27): Show c.108-2852_108-2843delAGAAAGAAAG	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results