Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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	23715292	C C	CAAAATAA others(13): Show CAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02300.hp1 others(8): Show HG02109.hp1 HG02257.hp2 HG02300.hp1 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG03195.hp1 HG03209.hp1 HG03486.hp2 HG03579.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 others(5): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0018 a0001c0001t0027 a0001c0001t0034 a0001c0001t0081 a0001c0001t0086	a0001c0001t0004g0030 a0001c0001t0004g0148 a0001c0001t0007g0023 others(8): Show a0001c0001t0004g0030 a0001c0001t0004g0148 a0001c0001t0007g0023 a0001c0001t0007g0198 a0001c0001t0009g0057 a0001c0001t0018g0022 a0001c0001t0018g0059 a0001c0001t0027g0146 a0001c0001t0034g0122 a0001c0001t0081g0193 a0001c0001t0086g0024	11	212	0.0519	20	c.810 others(39): Show c.810+19372_810+19391dupATTTTATTTTATTTTATTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23726118	C C	CGAGAGAG others(13): Show CGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0005 a0001c0001t0031g0005	1	212	0.0047	20	c.810 others(37): Show c.810+8546_810+8565dupTCTCTCTCTCTCTCTCTCTC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23759012	C C	CACACACA others(13): Show CACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0204 a0001c0001t0025g0204	1	212	0.0047	20	c.482 others(37): Show c.482-3289_482-3288insCTGTGTGTGTGTGTGTGTGT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23759018	C C	CACACACA others(13): Show CACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0003 a0001c0001t0010g0003	1	212	0.0047	20	c.482 others(37): Show c.482-3295_482-3294insCTGTGTGTGTGTGTGTGTGT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	15979042	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01069.hp1 HG01106.hp2 others(12): Show HG00408.hp2 HG01069.hp1 HG01106.hp2 HG01109.hp1 HG02155.hp1 HG02273.hp2 HG02717.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03704.hp1 NA18612.hp2 NA18986.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(6): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0030 a0001c0002t0003 a0001c0002t0025	a0001c0001t0003g0002 a0001c0001t0004g0016 a0001c0001t0004g0112 others(12): Show a0001c0001t0003g0002 a0001c0001t0004g0016 a0001c0001t0004g0112 a0001c0001t0004g0184 a0001c0001t0006g0192 a0001c0001t0006g0194 a0001c0001t0006g0198 a0001c0001t0007g0129 a0001c0001t0007g0182 a0001c0001t0009g0047 a0001c0001t0015g0045 a0001c0001t0015g0046 a0001c0001t0030g0205 a0001c0002t0003g0116 a0001c0002t0025g0075	15	218	0.0688	20	c.218 others(39): Show c.2184-5950_2184-5931dupATATATATATATATATATAT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	15/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16022331	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02258.hp2 HG02735.hp2 others(3): Show HG00639.hp2 HG02258.hp2 HG02735.hp2 HG02818.hp1 HG03195.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013	a0001c0001t0001g0022 a0001c0001t0003g0021 a0001c0001t0003g0031 others(3): Show a0001c0001t0001g0022 a0001c0001t0003g0021 a0001c0001t0003g0031 a0001c0001t0005g0042 a0001c0001t0013g0006 a0001c0001t0013g0174	6	218	0.0275	20	c.162 others(39): Show c.1624-7301_1624-7282dupGGAAGGAAGGAAGGAAGGAA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	12/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16022373	T T	TCCTTCCT others(13): Show TCCTTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG03225.hp1 NA18948.hp1 others(6): Show HG02027.hp1 HG03225.hp1 NA18948.hp1 NA18969.hp2 NA18979.hp1 NA18980.hp2 NA18992.hp2 NA18994.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0005 a0001c0003t0002 a0001c0001t0002 a0001c0001t0005 a0001c0003t0002	a0001c0001t0002g0096 a0001c0001t0002g0101 a0001c0001t0002g0102 others(6): Show a0001c0001t0002g0096 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0148 a0001c0001t0002g0175 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0005g0169 a0001c0003t0002g0103	9	218	0.0413	20	c.162 others(39): Show c.1624-7324_1624-7323insGAGGAAGGAAGGAAGGAAGG	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	12/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16125816	T T	TAGGAAGG others(13): Show TAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02258.hp1 HG02622.hp1 others(5): Show HG02027.hp2 HG02258.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp2 NA18947.hp2 NA18986.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014	a0001c0001t0003g0177 a0001c0001t0004g0137 a0001c0001t0005g0091 others(5): Show a0001c0001t0003g0177 a0001c0001t0004g0137 a0001c0001t0005g0091 a0001c0001t0006g0128 a0001c0001t0007g0129 a0001c0001t0009g0038 a0001c0001t0009g0039 a0001c0001t0014g0029	8	218	0.0367	20	c.778 others(39): Show c.778-13913_778-13894dupTCCTTCCTTCCTTCCTTCCT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16132444	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0165 a0001c0002t0001g0165	1	218	0.0046	20	c.778 others(39): Show c.778-20541_778-20522dupCTTTCTTTCTTTCTTTCTTT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16283089	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02818.hp1 HG03453.hp2 others(2): Show HG01256.hp1 HG02818.hp1 HG03453.hp2 HG03516.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0002t0045	a0001c0001t0001g0022 a0001c0001t0003g0121 a0001c0001t0003g0123 others(2): Show a0001c0001t0001g0022 a0001c0001t0003g0121 a0001c0001t0003g0123 a0001c0001t0013g0023 a0001c0002t0045g0214	5	218	0.0229	20	c.445 others(39): Show c.445+35337_445+35356dupTATATATATATATATATATA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	3/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349674	G G	GAGGGAGG others(13): Show GAGGGAGGGAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA19062.hp1 NA19090.hp2 HG02615.hp1 NA19062.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0024 a0001c0002t0033 a0001c0001t0002 a0001c0001t0024 a0001c0002t0033	a0001c0001t0002g0105 a0001c0001t0024g0104 a0001c0002t0033g0120 a0001c0001t0002g0105 a0001c0001t0024g0104 a0001c0002t0033g0120	3	218	0.0138	20	c.-5+ others(35): Show c.-5+6419_-5+6420insTCCTTCCTTCCTCCCTCCCT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16349715	A A	AGGAAGGA others(13): Show AGGAAGGAAGGAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0045 a0001c0001t0015g0045	1	218	0.0046	20	c.-5+ others(35): Show c.-5+6378_-5+6379insCTTCCTTCTTCCTTCCTTCC	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SOX8_chr16_976770_991979	981303	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0003 a0001c0002t0024g0003	1	434	0.0023	20	c.-62 others(29): Show c.-620_-619insGAGAGAGAGAGAGAGAGAGA	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		466		chr16	TogoVar
SOX8_chr16_976770_991979	981347	A A	AGAGAGAG others(13): Show AGAGAGAGAGAGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	20	c.-57 others(29): Show c.-576_-575insGAGAGAGAGAGTGTGTGTGT	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding		422		chr16	TogoVar
SP100_chr2_230411201_230550606	230421504	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0046 a0001c0003t0006g0046	1	290	0.0035	20	c.107 others(37): Show c.107+3857_107+3858insATATATATATATATATATAT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230436866	G G	GTATATGT others(13): Show GTATATGTGTATACACACACA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0270 a0003c0004t0002g0270	1	290	0.0035	20	c.108 others(37): Show c.108-6051_108-6032dupATATATGTGTATACACACAC	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230436899	C C	CACACACG others(13): Show CACACACGCATATATGTGTAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG01081.hp2 others(59): Show HG00323.hp1 HG00408.hp2 HG01081.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01891.hp2 HG01943.hp1 HG01981.hp2 HG02055.hp1 HG02109.hp2 HG02155.hp1 HG02155.hp2 HG02280.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG04184.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18950.hp2 NA18967.hp1 NA18970.hp2 NA18973.hp2 NA18984.hp2 NA19002.hp1 NA19005.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0003 a0001c0007 others(8): Show a0001c0001 a0001c0003 a0001c0007 a0001c0009 a0001c0019 a0002c0002 a0002c0005 a0002c0020 a0002c0021 a0003c0004 a0010c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(23): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0019 a0001c0001t0026 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0012 a0001c0007t0014 a0001c0007t0017 a0001c0009t0002 a0001c0009t0010 a0001c0019t0016 a0002c0002t0001 a0002c0002t0013 a0002c0005t0001 a0002c0005t0013 a0002c0020t0023 a0002c0021t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0010c0012t0009	a0001c0001t0002g0065 a0001c0001t0002g0071 a0001c0001t0002g0104 others(59): Show a0001c0001t0002g0065 a0001c0001t0002g0071 a0001c0001t0002g0104 a0001c0001t0002g0275 a0001c0001t0003g0055 a0001c0001t0003g0073 a0001c0001t0003g0093 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0008g0038 a0001c0001t0008g0039 a0001c0001t0008g0040 a0001c0001t0008g0052 a0001c0001t0008g0053 a0001c0001t0019g0064 a0001c0001t0026g0059 a0001c0003t0002g0099 a0001c0003t0002g0107 a0001c0003t0002g0108 a0001c0003t0003g0062 a0001c0003t0003g0109 a0001c0003t0004g0248 a0001c0003t0007g0054 a0001c0003t0007g0110 a0001c0003t0007g0114 a0001c0003t0007g0249 a0001c0003t0007g0250 a0001c0003t0012g0047 a0001c0003t0012g0246 a0001c0007t0014g0029 a0001c0007t0014g0031 a0001c0007t0014g0032 a0001c0007t0017g0030 a0001c0009t0002g0081 a0001c0009t0010g0063 a0001c0019t0016g0034 a0002c0002t0001g0033 a0002c0002t0001g0077 a0002c0002t0001g0106 a0002c0002t0013g0037 a0002c0002t0013g0058 a0002c0005t0001g0051 a0002c0005t0001g0056 a0002c0005t0001g0057 a0002c0005t0001g0067 a0002c0005t0001g0068 a0002c0005t0001g0079 a0002c0005t0013g0036 a0002c0005t0013g0105 a0002c0020t0023g0035 a0002c0021t0001g0100 a0003c0004t0002g0112 a0003c0004t0002g0116 a0003c0004t0003g0060 a0003c0004t0003g0080 a0003c0004t0003g0102 a0003c0004t0003g0111 a0003c0004t0003g0113 a0003c0004t0003g0115 a0003c0004t0004g0050 a0003c0004t0004g0247 a0010c0012t0009g0086	62	290	0.2138	20	c.108 others(37): Show c.108-6031_108-6012dupGCATATATGTGTATACACAC	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497488	G G	GGAGGAGA others(13): Show GGAGGAGAGGAGAGGAGAGGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02723.hp2 HG01243.hp1 HG02723.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0004 a0003c0004t0004 a0001c0001t0004 a0003c0004t0004	a0001c0001t0004g0048 a0003c0004t0004g0103 a0001c0001t0004g0048 a0003c0004t0004g0103	2	290	0.0069	20	c.164 others(37): Show c.1646-932_1646-913dupGAGGAGAGGAGAGGAGAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497534	G G	GAGGAAAG others(13): Show GAGGAAAGGAAAGGAAAGGAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0255 a0001c0003t0008g0255	1	290	0.0035	20	c.164 others(37): Show c.1646-923_1646-922insAAGGAAAGGAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497539	G G	GAGGAAAG others(13): Show GAGGAAAGGAAAGGAAAGGAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0115 a0003c0004t0003g0132 a0003c0004t0003g0115 a0003c0004t0003g0132	2	290	0.0069	20	c.164 others(37): Show c.1646-918_1646-917insAAGGAAAGGAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230546455	C C	CATATATA others(13): Show CATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02647.hp2 NA18522.hp2 others(1): Show HG02630.hp1 HG02647.hp2 NA18522.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0087 a0001c0001t0006g0089 a0001c0001t0006g0096 others(1): Show a0001c0001t0006g0087 a0001c0001t0006g0089 a0001c0001t0006g0096 a0001c0001t0006g0251	4	290	0.0138	20	c.35 others(31): Show c.3509_*3510insATATATATATATATATATAT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding		850		chr2	TogoVar
SP110_chr2_230160186_230224984	230202014	T T	TGAATGCA others(13): Show TGAATGCAGAAACAGTTGTAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0006 a0008c0011t0006	a0008c0011t0006g0303 a0008c0011t0006g0303	1	428	0.0023	20	c.104 others(37): Show c.1048+545_1048+564dupCTACAACTGTTTCTGCATTC	SP110	ENSG00000135899.20	transcript	ENST00000258381.11	protein_coding	9/18			chr2	TogoVar
SP110_chr2_230160186_230224984	230206595	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01516.hp1 HG02135.hp2 others(9): Show HG00738.hp1 HG01516.hp1 HG02135.hp2 HG02300.hp1 HG03540.hp2 NA18943.hp1 NA18954.hp2 NA18959.hp2 NA18964.hp2 NA18974.hp1 NA18990.hp2 NA19065.hp2	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0011	a0001c0001 a0005c0006 a0006c0005 others(1): Show a0001c0001 a0005c0006 a0006c0005 a0011c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 a0001c0001t0025 a0005c0006t0001 a0005c0006t0005 a0006c0005t0005 a0011c0014t0008	a0001c0001t0001g0061 a0001c0001t0001g0101 a0001c0001t0001g0206 others(9): Show a0001c0001t0001g0061 a0001c0001t0001g0101 a0001c0001t0001g0206 a0001c0001t0002g0183 a0001c0001t0022g0203 a0001c0001t0025g0071 a0005c0006t0001g0076 a0005c0006t0001g0127 a0005c0006t0001g0128 a0005c0006t0005g0126 a0006c0005t0005g0369 a0011c0014t0008g0360	12	428	0.0280	20	c.898 others(37): Show c.898+1376_898+1395dupTATATATATATATATATATA	SP110	ENSG00000135899.20	transcript	ENST00000258381.11	protein_coding	8/18			chr2	TogoVar
SP110_chr2_230160186_230224984	230224430	G G	GGAGGGAG others(13): Show GGAGGGAGAGGGAGGGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG02615.hp2 HG02818.hp1 others(1): Show HG01106.hp1 HG02615.hp2 HG02818.hp1 HG03540.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0207 a0001c0007t0009g0208 a0001c0007t0009g0209 others(1): Show a0001c0007t0009g0207 a0001c0007t0009g0208 a0001c0007t0009g0209 a0001c0007t0009g0210	4	428	0.0094	20	c.-45 others(31): Show c.-4578_-4559dupTCTCTCCCTCCCTCTCCCTC	SP110	ENSG00000135899.20	transcript	ENST00000258381.11	protein_coding		4447		chr2	TogoVar
SP140L_chr2_230322193_230408732	230354848	G G	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18970.hp1 HG03130.hp1 NA18970.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0004 a0002c0002t0001 a0001c0004t0004 a0002c0002t0001	a0001c0004t0004g0244 a0002c0002t0001g0315 a0001c0004t0004g0244 a0002c0002t0001g0315	2	336	0.0060	20	c.108 others(37): Show c.108-2927_108-2908dupAAAGAAAGAAAGAAAGAAAG	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140_chr2_230220736_230318215	230224430	G G	GGAGGGAG others(13): Show GGAGGGAGAGGGAGGGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG02615.hp2 HG02818.hp1 others(1): Show HG01106.hp2 HG02615.hp2 HG02818.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015	4	370	0.0108	20	c.-14 others(31): Show c.-1415_-1414insGAGGGAGAGGGAGGGAGAGA	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding		1305		chr2	TogoVar
SP140_chr2_230220736_230318215	230259771	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG01106.hp1 others(12): Show HG00323.hp2 HG00639.hp1 HG01106.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01496.hp1 HG01884.hp1 HG02258.hp1 HG02451.hp2 HG02698.hp1 HG02896.hp1 HG02897.hp2 HG03927.hp1 HG06807.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0007 a0010	a0001c0001 a0003c0004 a0004c0003 others(3): Show a0001c0001 a0003c0004 a0004c0003 a0007c0012 a0007c0018 a0010c0022	a0001c0001t0001 a0003c0004t0003 a0004c0003t0001 others(3): Show a0001c0001t0001 a0003c0004t0003 a0004c0003t0001 a0007c0012t0001 a0007c0018t0001 a0010c0022t0001	a0001c0001t0001g0011 a0001c0001t0001g0194 a0001c0001t0001g0291 others(10): Show a0001c0001t0001g0011 a0001c0001t0001g0194 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0302 a0003c0004t0003g0003 a0003c0004t0003g0018 a0003c0004t0003g0020 a0004c0003t0001g0271 a0004c0003t0001g0355 a0007c0012t0001g0012 a0007c0018t0001g0053 a0010c0022t0001g0134	15	370	0.0405	20	c.124 others(39): Show c.1240+4245_1240+4264dupTATATATATATATATATATA	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	12/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140_chr2_230220736_230318215	230288455	A A	ATCTTTCT others(13): Show ATCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG01884.hp2 HG02280.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0310 a0004c0003t0001g0321 a0004c0003t0001g0310 a0004c0003t0001g0321	2	370	0.0054	20	c.172 others(37): Show c.1720+539_1720+558dupCTTTCTTTCTTTCTTTCTTT	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140_chr2_230220736_230318215	230307990	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01169.hp1 HG01346.hp2 HG00140.hp1 HG01169.hp1 HG01346.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0004 a0001c0006 a0003c0004	a0001c0006t0001 a0003c0004t0003 a0001c0006t0001 a0003c0004t0003	a0001c0006t0001g0025 a0003c0004t0003g0030 a0003c0004t0003g0032 a0001c0006t0001g0025 a0003c0004t0003g0030 a0003c0004t0003g0032	3	370	0.0081	20	c.205 others(39): Show c.2059-1933_2059-1932insTATATATATATATATATACA	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP3_chr2_173895775_173970373	173933638	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp2 HG02630.hp1 others(8): Show HG02145.hp1 HG02451.hp2 HG02630.hp1 HG03239.hp1 HG03654.hp2 NA18522.hp1 NA18947.hp1 NA18979.hp1 NA19006.hp2 NA19080.hp1 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0087 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0087 a0001c0007t0008 a0002c0002t0002 a0002c0002t0013	a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0005g0017 others(8): Show a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0005g0017 a0001c0001t0005g0020 a0001c0001t0005g0025 a0001c0001t0005g0029 a0001c0001t0005g0031 a0001c0001t0087g0044 a0001c0007t0008g0136 a0002c0002t0002g0284 a0002c0002t0013g0213	11	356	0.0309	20	c.164 others(41): Show c.1640-14873_1640-14854dupTATATATATATATATATATA	SP3	ENSG00000172845.18	transcript	ENST00000310015.12	protein_coding	4/6			chr2	TogoVar
SP3_chr2_173895775_173970373	173939764	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02809.hp1 HG02280.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0004t0007 a0001c0001t0007 a0001c0004t0007	a0001c0001t0007g0133 a0001c0004t0007g0317 a0001c0001t0007g0133 a0001c0004t0007g0317	2	356	0.0056	20	c.163 others(41): Show c.1639+15108_1639+15109insTTTTTTTTTTTTTTTTTTTT	SP3	ENSG00000172845.18	transcript	ENST00000310015.12	protein_coding	4/6			chr2	TogoVar
SP4_chr7_21423083_21519822	21487335	C C	CCTCTCTC others(13): Show CCTCTCTCTCTCTTTCTCTGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03225.hp1 HG02559.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0277 a0001c0001t0028g0278 a0001c0001t0028g0277 a0001c0001t0028g0278	2	426	0.0047	20	c.210 others(39): Show c.2107+5225_2107+5244dupTTCTCTGTCTCTCTCTCTCT	SP4	ENSG00000105866.15	transcript	ENST00000222584.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
SP5_chr2_170710337_170723078	170714944	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0001 a0002c0001t0004g0001	1	452	0.0022	20	c.-56 others(29): Show c.-569_-568insGTGTGTGTGTGTGTGTGTGT	SP5	ENSG00000204335.4	transcript	ENST00000375281.4	protein_coding		392		chr2	TogoVar
SPACA5B_chrX_48125626_48137620	48135277	G G	GCTTTCTT others(13): Show GCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	312	0.0032	20	c.27 others(31): Show c.2748_*2749insCTTTCTTTCTTTCTTTCTTT	SPACA5B	ENSG00000171478.8	transcript	ENST00000304270.6	protein_coding		2658		chrX	TogoVar
SPACA5B_chrX_48125626_48137620	48135281	G G	GCTTTCTT others(13): Show GCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA19079.hp1 NA18955.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0003t0001g0001 a0001c0001t0001g0001 a0001c0003t0001g0001	2	312	0.0064	20	c.27 others(31): Show c.2752_*2753insCTTTCTTTCTTTCTTTCTTT	SPACA5B	ENSG00000171478.8	transcript	ENST00000304270.6	protein_coding		2662		chrX	TogoVar
SPACA5B_chrX_48125626_48137620	48135285	G G	GCTTTCTT others(13): Show GCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG02004.hp1 HG02004.hp2 others(2): Show HG00597.hp1 HG02004.hp1 HG02004.hp2 NA18945.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004	5	312	0.0160	20	c.27 others(31): Show c.2756_*2757insCTTTCTTTCTTTCTTTCTTT	SPACA5B	ENSG00000171478.8	transcript	ENST00000304270.6	protein_coding		2666		chrX	TogoVar
SPACA5B_chrX_48125626_48137620	48135289	G G	GCTTTCTT others(13): Show GCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG02155.hp1 HG00423.hp1 HG00673.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	312	0.0096	20	c.27 others(31): Show c.2760_*2761insCTTTCTTTCTTTCTTTCTTT	SPACA5B	ENSG00000171478.8	transcript	ENST00000304270.6	protein_coding		2670		chrX	TogoVar
SPACA5_chrX_48001988_48014733	48012915	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG04199.hp1 HG01891.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0003 a0001c0001t0001g0004	2	292	0.0069	20	c.32 others(31): Show c.3270_*3271insAAAAAAAAAAAAAAAAAAAA	SPACA5	ENSG00000171489.11	transcript	ENST00000376940.4	protein_coding		3183		chrX	TogoVar
SPACA5_chrX_48001988_48014733	48013031	G G	GCTTGCTT others(13): Show GCTTGCTTGCTTCCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02717.hp1 HG02630.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0004 a0001c0001t0001g0011	2	292	0.0069	20	c.33 others(31): Show c.3386_*3387insCTTGCTTGCTTCCTTTCTTT	SPACA5	ENSG00000171489.11	transcript	ENST00000376940.4	protein_coding		3299		chrX	TogoVar
SPACA5_chrX_48001988_48014733	48013031	G G	GCTTGCTT others(13): Show GCTTGCTTGCTTGCTTGCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01168.hp2 HG04199.hp1 HG00323.hp1 HG01168.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	3	292	0.0103	20	c.33 others(31): Show c.3386_*3387insCTTGCTTGCTTGCTTGCTTC	SPACA5	ENSG00000171489.11	transcript	ENST00000376940.4	protein_coding		3299		chrX	TogoVar
SPACA7_chr13_112371355_112439689	112383026	A A	AAGAGAGA others(13): Show AAGAGAGAGAGAGAGAAAGAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02976.hp1 HG03486.hp1 others(2): Show HG02257.hp1 HG02976.hp1 HG03486.hp1 HG03516.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0346 others(2): Show a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0002g0345	5	391	0.0128	20	c.94+ others(35): Show c.94+6566_94+6567insGAGAGAGAGAGAGAGAAAGA	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPACDR_chr7_100451620_100469260	100457803	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01074.hp2 HG01192.hp1 others(11): Show HG00438.hp1 HG01074.hp2 HG01192.hp1 HG02015.hp2 HG02056.hp2 HG02273.hp2 HG02300.hp2 HG02965.hp2 NA18982.hp1 NA18989.hp2 NA18995.hp1 NA19011.hp2 NA19082.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0058 a0001c0001t0001g0061 others(10): Show a0001c0001t0001g0024 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0080 a0001c0001t0001g0091 a0001c0001t0001g0146 a0001c0001t0001g0162 a0001c0001t0001g0191 a0001c0001t0001g0230 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0248	14	350	0.0400	20	c.388 others(35): Show c.388-838_388-819dupCACACACACACACACACACA	SPACDR	ENSG00000185955.5	transcript	ENST00000332375.4	protein_coding	2/2			chr7	TogoVar
SPACDR_chr7_100451620_100469260	100457841	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	350	0.0029	20	c.388 others(35): Show c.388-857_388-856insTATACACACACACACACACA	SPACDR	ENSG00000185955.5	transcript	ENST00000332375.4	protein_coding	2/2			chr7	TogoVar
SPACDR_chr7_100451620_100469260	100457841	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA18612.hp2 HG02004.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	2	350	0.0057	20	c.388 others(35): Show c.388-857_388-856insTACACACACACACACACACA	SPACDR	ENSG00000185955.5	transcript	ENST00000332375.4	protein_coding	2/2			chr7	TogoVar
SPAG11A_chr8_7843008_7865943	7863213	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0078 a0005c0004t0001g0078	1	131	0.0076	20	c.23 others(31): Show c.2380_*2381insTTTTTTTTTTTTTTTTTTTT	SPAG11A	ENSG00000178287.18	transcript	ENST00000642566.2	protein_coding		2271		chr8	TogoVar
SPAG11B_chr8_7445603_7468542	7448302	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0104 a0002c0002t0001g0104	1	205	0.0049	20	c.23 others(31): Show c.2391_*2410dupTTTTTTTTTTTTTTTTTTTT	SPAG11B	ENSG00000164871.18	transcript	ENST00000398462.7	protein_coding		2300		chr8	TogoVar
SPAG11B_chr8_7445603_7468542	7448786	C C	CCCCTTCC others(13): Show CCCCTTCCCTTCCCTTCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01069.hp2 HG01074.hp1 others(35): Show HG00597.hp2 HG01069.hp2 HG01074.hp1 HG01515.hp1 HG01517.hp1 HG02015.hp2 HG02135.hp2 HG02523.hp2 HG02559.hp1 HG02735.hp1 HG02738.hp1 HG03017.hp1 HG03239.hp2 NA18946.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18961.hp2 NA18964.hp1 NA18967.hp2 NA18975.hp2 NA18978.hp2 NA18980.hp2 NA18999.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19011.hp2 NA19064.hp1 NA19068.hp1 NA19076.hp2 NA19078.hp1 NA19085.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0011 others(20): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0041 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0055 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0108 a0002c0002t0002g0026 a0002c0002t0002g0028 a0002c0002t0002g0029	38	205	0.1854	20	c.19 others(31): Show c.1907_*1926dupAAGGGAAGGGAAGGGAAGGG	SPAG11B	ENSG00000164871.18	transcript	ENST00000398462.7	protein_coding		1816		chr8	TogoVar
SPAG16_chr2_213279464_214415501	213387431	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03239.hp1 HG02976.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0002g0001 a0001c0001t0001g0013 a0001c0001t0002g0001	2	86	0.0233	20	c.942 others(39): Show c.942+12322_942+12341dupTTTTTTTTTTTTTTTTTTTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213642820	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03831.hp2 NA18977.hp1 HG00673.hp1 HG03831.hp2 NA18977.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0030 a0002c0002t0001g0049 a0003c0003t0001g0046 a0001c0001t0001g0030 a0002c0002t0001g0049 a0003c0003t0001g0046	3	86	0.0349	20	c.107 others(43): Show c.1070+152740_1070+152759dupAAAAAAAAAAAAAAAAAAAA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213715222	G G	GTCTATCT others(13): Show GTCTATCTATCCATCTATCTA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0038 a0003c0003t0001g0038	1	86	0.0116	20	c.107 others(43): Show c.1071-147253_1071-147252insCATCTATCTATCTATCTATC	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar

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