Joint Open Genome and Omics Platform (JoGo)

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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	23600522	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02818.hp2 HG03209.hp2 others(3): Show HG02145.hp1 HG02818.hp2 HG03209.hp2 HG03225.hp2 HG03704.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0054 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0054 a0001c0001t0090 a0001c0001t0114	a0001c0001t0001g0080 a0001c0001t0001g0114 a0001c0001t0003g0121 others(3): Show a0001c0001t0001g0080 a0001c0001t0001g0114 a0001c0001t0003g0121 a0001c0001t0054g0154 a0001c0001t0090g0072 a0001c0001t0114g0119	6	212	0.0283	18	c.116 others(37): Show c.1164+3847_1164+3864dupATATATATATATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23704687	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0135 a0001c0001t0055g0135	1	212	0.0047	18	c.810 others(37): Show c.810+29979_810+29996dupATATATATATATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23704715	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 NA19003.hp2 HG01069.hp1 HG01071.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0108 a0001c0001t0012 a0001c0001t0108	a0001c0001t0012g0110 a0001c0001t0012g0111 a0001c0001t0108g0050 a0001c0001t0012g0110 a0001c0001t0012g0111 a0001c0001t0108g0050	3	212	0.0142	18	c.810 others(37): Show c.810+29968_810+29969insGTATATATATATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23726118	C C	CGAGAGAG others(11): Show CGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0052 a0001c0001t0077g0052	1	212	0.0047	18	c.810 others(35): Show c.810+8548_810+8565dupTCTCTCTCTCTCTCTCTC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23779814	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03130.hp2 NA20300.hp1 HG02647.hp2 HG03130.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0047 a0001c0001t0003 a0001c0004t0047	a0001c0001t0003g0086 a0001c0001t0003g0208 a0001c0004t0047g0190 a0001c0001t0003g0086 a0001c0001t0003g0208 a0001c0004t0047g0190	3	212	0.0142	18	c.482 others(37): Show c.482-24091_482-24090insGTGTATATATATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23792622	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0002 a0001c0001t0082g0002	1	212	0.0047	18	c.482 others(37): Show c.482-36916_482-36899dupTTTTTTTTTTTTTTTTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23831957	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01891.hp2 HG02145.hp1 others(6): Show HG01258.hp1 HG01891.hp2 HG02145.hp1 HG02965.hp1 HG03225.hp1 HG03453.hp2 HG06807.hp2 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0020 a0001c0001t0038 others(3): Show a0001c0001t0001 a0001c0001t0020 a0001c0001t0038 a0001c0003t0080 a0001c0005t0001 a0001c0006t0007	a0001c0001t0001g0080 a0001c0001t0001g0114 a0001c0001t0001g0166 others(6): Show a0001c0001t0001g0080 a0001c0001t0001g0114 a0001c0001t0001g0166 a0001c0001t0020g0094 a0001c0001t0020g0181 a0001c0001t0038g0168 a0001c0003t0080g0183 a0001c0005t0001g0195 a0001c0006t0007g0115	9	212	0.0425	18	c.481 others(37): Show c.481+14008_481+14025dupGTGTGTGTGTGTGTGTGT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23831957	T T	TACACGCA others(11): Show TACACGCACACACACACAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03239.hp1 homoSapiens_chm13v2.hp1 HG02683.hp2 HG03239.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0059 a0001c0001t0076 a0001c0001t0002 a0001c0001t0059 a0001c0001t0076	a0001c0001t0002g0200 a0001c0001t0059g0160 a0001c0001t0076g0163 a0001c0001t0002g0200 a0001c0001t0059g0160 a0001c0001t0076g0163	3	212	0.0142	18	c.481 others(37): Show c.481+14025_481+14026insGTGTGTGTGTGTGCGTGT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23847207	A A	AAAATCCT others(11): Show AAAATCCTGTACCTCTCTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18957.hp2 NA18612.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0089 a0001c0001t0028 a0001c0001t0089	a0001c0001t0028g0203 a0001c0001t0089g0202 a0001c0001t0028g0203 a0001c0001t0089g0202	2	212	0.0094	18	c.271 others(35): Show c.271-1015_271-1014insAAGAGAGGTACAGGATTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	2/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23872164	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02083.hp2 NA18961.hp1 others(2): Show HG01891.hp1 HG02083.hp2 NA18961.hp1 NA19010.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0099 a0001c0001t0103 others(2): Show a0001c0001t0040 a0001c0001t0099 a0001c0001t0103 a0001c0001t0115 a0001c0001t0119	a0001c0001t0040g0046 a0001c0001t0099g0055 a0001c0001t0103g0064 others(2): Show a0001c0001t0040g0046 a0001c0001t0099g0055 a0001c0001t0103g0064 a0001c0001t0115g0179 a0001c0001t0119g0020	5	212	0.0236	18	c.270 others(37): Show c.270+23611_270+23628dupAAAAAAAAAAAAAAAAAA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	2/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	15979042	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp2 HG02572.hp1 others(5): Show HG01243.hp1 HG02258.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG03041.hp1 HG04115.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0002t0009 a0001c0002t0011	a0001c0001t0003g0026 a0001c0001t0003g0031 a0001c0001t0003g0035 others(5): Show a0001c0001t0003g0026 a0001c0001t0003g0031 a0001c0001t0003g0035 a0001c0001t0006g0126 a0001c0001t0009g0038 a0001c0001t0009g0039 a0001c0002t0009g0030 a0001c0002t0011g0161	8	218	0.0367	18	c.218 others(37): Show c.2184-5948_2184-5931dupATATATATATATATATAT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	15/15			chr11	TogoVar
SOX6_chr11_15961449_16361546	16283089	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp1 HG00639.hp2 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0021 a0001c0001t0004g0016 a0001c0001t0003g0021 a0001c0001t0004g0016	2	218	0.0092	18	c.445 others(37): Show c.445+35339_445+35356dupTATATATATATATATATA	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	3/15			chr11	TogoVar
SP100_chr2_230411201_230550606	230436899	C C	CACACATA others(11): Show CACACATATATGTGTGTAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00738.hp1 HG01074.hp1 others(22): Show HG00673.hp2 HG00738.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG02040.hp1 HG02258.hp2 HG02698.hp1 HG02735.hp1 HG02818.hp1 HG03654.hp2 HG04184.hp2 NA18954.hp2 NA18957.hp1 NA18978.hp1 NA18981.hp2 NA18989.hp1 NA18994.hp1 NA19003.hp1 NA19054.hp1 NA19055.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0003 a0001c0017 others(4): Show a0001c0001 a0001c0003 a0001c0017 a0002c0002 a0002c0005 a0003c0004 a0008c0022	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0027 a0001c0003t0002 a0001c0003t0003 a0001c0003t0010 a0001c0017t0002 a0002c0002t0001 a0002c0005t0001 a0002c0005t0005 a0003c0004t0003 a0008c0022t0005	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 others(22): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0018 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0003g0028 a0001c0001t0004g0016 a0001c0001t0027g0020 a0001c0003t0002g0012 a0001c0003t0003g0021 a0001c0003t0010g0019 a0001c0017t0002g0017 a0002c0002t0001g0004 a0002c0002t0001g0014 a0002c0005t0001g0009 a0002c0005t0001g0010 a0002c0005t0005g0011 a0002c0005t0005g0022 a0002c0005t0005g0023 a0003c0004t0003g0015 a0003c0004t0003g0254 a0008c0022t0005g0013	25	290	0.0862	18	c.108 others(35): Show c.108-6033_108-6032insTATATGTGTGTATACACA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230522246	T T	TTTGGTGA others(11): Show TTTGGTGATTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02630.hp2 HG02723.hp1 others(1): Show HG01109.hp1 HG02630.hp2 HG02723.hp1 HG03098.hp1	a0001 a0005 a0001 a0005	a0001c0007 a0005c0008 a0001c0007 a0005c0008	a0001c0007t0014 a0005c0008t0014 a0001c0007t0014 a0005c0008t0014	a0001c0007t0014g0029 a0001c0007t0014g0031 a0001c0007t0014g0032 others(1): Show a0001c0007t0014g0029 a0001c0007t0014g0031 a0001c0007t0014g0032 a0005c0008t0014g0003	4	290	0.0138	18	c.209 others(39): Show c.2094+11084_2094+11101dupGTGATTGTGTGTGTGTTG	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	24/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230546455	C C	CATATATA others(11): Show CATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0090 a0001c0003t0006g0090	1	290	0.0035	18	c.35 others(29): Show c.3509_*3510insATATATATATATATATAT	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding		850		chr2	TogoVar
SP110_chr2_230160186_230224984	230206593	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	428	0.0023	18	c.898 others(35): Show c.898+1397_898+1398insTATATATATATATATATA	SP110	ENSG00000135899.20	transcript	ENST00000258381.11	protein_coding	8/18			chr2	TogoVar
SP110_chr2_230160186_230224984	230206595	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00741.hp2 HG01256.hp1 others(10): Show HG00558.hp2 HG00741.hp2 HG01256.hp1 HG02083.hp2 HG03491.hp2 HG04204.hp1 NA18945.hp1 NA18973.hp1 NA18980.hp2 NA19070.hp2 NA19076.hp1 NA19077.hp1 NA19087.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0011	a0001c0001 a0004c0004 a0005c0006 others(1): Show a0001c0001 a0004c0004 a0005c0006 a0011c0014	a0001c0001t0001 a0001c0001t0005 a0004c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0005 a0004c0004t0001 a0004c0004t0020 a0005c0006t0012 a0011c0014t0008	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0060 others(10): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0060 a0001c0001t0001g0151 a0001c0001t0001g0257 a0001c0001t0001g0363 a0001c0001t0005g0069 a0001c0001t0005g0258 a0001c0001t0005g0343 a0004c0004t0001g0259 a0004c0004t0020g0352 a0005c0006t0012g0125 a0011c0014t0008g0359	13	428	0.0304	18	c.898 others(35): Show c.898+1378_898+1395dupTATATATATATATATATA	SP110	ENSG00000135899.20	transcript	ENST00000258381.11	protein_coding	8/18			chr2	TogoVar
SP140L_chr2_230322193_230408732	230367802	C C	CGTGCCTG others(11): Show CGTGCCTGTAACCCCAGCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02257.hp2 others(2): Show HG02055.hp1 HG02145.hp1 HG02257.hp2 HG03130.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0002 a0003c0003 a0001c0004 a0002c0002 a0003c0003	a0001c0004t0001 a0001c0004t0004 a0002c0002t0001 others(1): Show a0001c0004t0001 a0001c0004t0004 a0002c0002t0001 a0003c0003t0001	a0001c0004t0001g0299 a0001c0004t0004g0244 a0001c0004t0004g0246 others(2): Show a0001c0004t0001g0299 a0001c0004t0004g0244 a0001c0004t0004g0246 a0002c0002t0001g0300 a0003c0003t0001g0245	5	336	0.0149	18	c.524 others(35): Show c.524-3105_524-3088dupGTGCCTGTAACCCCAGCT	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140_chr2_230220736_230318215	230259771	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01099.hp1 HG01243.hp2 others(9): Show HG00140.hp1 HG01099.hp1 HG01243.hp2 HG01256.hp1 HG02145.hp2 HG02148.hp1 HG02622.hp2 HG03098.hp1 HG06807.hp2 NA18906.hp1 NA19240.hp2 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0006 a0003c0004 others(1): Show a0001c0001 a0001c0006 a0003c0004 a0004c0003	a0001c0001t0001 a0001c0001t0005 a0001c0006t0001 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0006t0001 a0001c0006t0002 a0003c0004t0003 a0003c0004t0010 a0004c0003t0001	a0001c0001t0001g0193 a0001c0001t0001g0204 a0001c0001t0001g0317 others(9): Show a0001c0001t0001g0193 a0001c0001t0001g0204 a0001c0001t0001g0317 a0001c0001t0001g0356 a0001c0001t0005g0122 a0001c0006t0001g0025 a0001c0006t0002g0017 a0003c0004t0003g0016 a0003c0004t0010g0021 a0004c0003t0001g0045 a0004c0003t0001g0227 a0004c0003t0001g0270	12	370	0.0324	18	c.124 others(37): Show c.1240+4247_1240+4264dupTATATATATATATATATA	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	12/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP140_chr2_230220736_230318215	230307990	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp1 HG01433.hp2 others(2): Show HG01243.hp1 HG01255.hp1 HG01433.hp2 HG02602.hp1 HG03239.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0004 a0003c0005 a0001c0006 a0003c0004 a0003c0005	a0001c0006t0001 a0003c0004t0003 a0003c0005t0003 a0001c0006t0001 a0003c0004t0003 a0003c0005t0003	a0001c0006t0001g0026 a0003c0004t0003g0024 a0003c0004t0003g0031 others(2): Show a0001c0006t0001g0026 a0003c0004t0003g0024 a0003c0004t0003g0031 a0003c0004t0003g0033 a0003c0005t0003g0104	5	370	0.0135	18	c.205 others(37): Show c.2059-1933_2059-1932insTATATATATATATATACA	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(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG01081.hp2 others(15): Show HG00140.hp1 HG00544.hp2 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01981.hp2 HG02257.hp1 HG02698.hp2 HG02896.hp1 HG03209.hp1 NA18959.hp1 NA18977.hp1 NA19005.hp2 NA19057.hp2 NA19078.hp1 NA19086.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 others(6): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0001t0023 a0001c0001t0032 a0001c0001t0096 a0002c0002t0002 a0002c0002t0013 a0002c0002t0020	a0001c0001t0003g0278 a0001c0001t0005g0027 a0001c0001t0005g0028 others(15): Show a0001c0001t0003g0278 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0036 a0001c0001t0005g0038 a0001c0001t0016g0232 a0001c0001t0023g0226 a0001c0001t0023g0231 a0001c0001t0032g0050 a0001c0001t0096g0301 a0002c0002t0002g0078 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0247 a0002c0002t0002g0250 a0002c0002t0013g0206 a0002c0002t0013g0267 a0002c0002t0020g0266	18	356	0.0506	18	c.164 others(39): Show c.1640-14871_1640-14854dupTATATATATATATATATA	SP3	ENSG00000172845.18	transcript	ENST00000310015.12	protein_coding	4/6			chr2	TogoVar
SP3_chr2_173895775_173970373	173939764	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02896.hp2 HG03195.hp1 HG01891.hp2 HG02896.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0103 a0001c0001t0006g0121 a0001c0001t0007g0122 a0001c0001t0006g0103 a0001c0001t0006g0121 a0001c0001t0007g0122	3	356	0.0084	18	c.163 others(39): Show c.1639+15091_1639+15108dupTTTTTTTTTTTTTTTTTT	SP3	ENSG00000172845.18	transcript	ENST00000310015.12	protein_coding	4/6			chr2	TogoVar
SP5_chr2_170710337_170723078	170714944	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02896.hp2 HG02897.hp2 others(3): Show HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03195.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0005 a0002c0001t0004 a0001c0002t0005 a0002c0001t0004	a0001c0002t0005g0001 a0002c0001t0004g0001 a0001c0002t0005g0001 a0002c0001t0004g0001	6	452	0.0133	18	c.-56 others(27): Show c.-569_-568insGTGTGTGTGTGTGTGTGT	SP5	ENSG00000204335.4	transcript	ENST00000375281.4	protein_coding		392		chr2	TogoVar
SPAAR_chr9_35904490_35916686	35906586	T T	TCCACCAC others(11): Show TCCACCACCACCACCACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 NA20300.hp2 HG03130.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0002 a0001c0001t0003g0005 a0001c0001t0002g0002 a0001c0001t0003g0005	2	420	0.0048	18	c.-32 others(29): Show c.-3286_-3285insCCACCACCACCACCACCA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2903		chr9	TogoVar
SPAAR_chr9_35904490_35916686	35906598	A A	ACCACCAC others(11): Show ACCACCACCACCACCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00673.hp1 HG01109.hp2 others(16): Show HG00280.hp1 HG00673.hp1 HG01109.hp2 HG01346.hp1 HG01884.hp2 HG02129.hp1 HG02280.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03130.hp2 HG03491.hp1 HG03540.hp1 HG03579.hp2 NA18969.hp1 NA18997.hp2 NA19009.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0001 others(2): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0005	19	420	0.0452	18	c.-32 others(29): Show c.-3274_-3273insCCACCACCACCACCACCC	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2891		chr9	TogoVar
SPAAR_chr9_35904490_35916686	35906598	A A	ACCACCCC others(11): Show ACCACCCCCACCACCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG03471.hp2 NA18954.hp2 HG01258.hp2 HG03471.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0001 a0001c0001t0002 a0001c0001t0014	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0014g0003 a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0014g0003	3	420	0.0071	18	c.-32 others(29): Show c.-3274_-3273insCCACCCCCACCACCACCC	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2891		chr9	TogoVar
SPACA4_chr19_48601742_48612714	48602704	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	392	0.0026	18	c.-42 others(29): Show c.-4275_-4274insAAAAAAAAAAAAAAATAT	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4037		chr19	TogoVar
SPACA4_chr19_48601742_48612714	48602704	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	392	0.0026	18	c.-42 others(29): Show c.-4275_-4274insAAAAAAAAAAAAATATAT	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4037		chr19	TogoVar
SPACA5_chrX_48001988_48014733	48012915	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG02258.hp1 HG00738.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	292	0.0069	18	c.32 others(29): Show c.3270_*3271insAAAAAAAAAAAAAAAAAA	SPACA5	ENSG00000171489.11	transcript	ENST00000376940.4	protein_coding		3183		chrX	TogoVar
SPACA7_chr13_112371355_112439689	112383022	A A	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAAAG	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	391	0.0026	18	c.94+ others(33): Show c.94+6546_94+6547insGAGAGAGAGAGAAAGAGA	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPACA7_chr13_112371355_112439689	112383026	A A	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00558.hp2 others(75): Show HG00323.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG00733.hp2 HG01070.hp2 HG01261.hp1 HG01496.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG02027.hp1 HG02074.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02300.hp1 HG02523.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG03130.hp2 HG03239.hp1 HG03710.hp1 NA18612.hp2 NA18942.hp2 NA18946.hp1 NA18952.hp1 NA18952.hp2 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18985.hp1 NA18987.hp2 NA18993.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0006 others(1): Show a0001c0001 a0002c0002 a0002c0006 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0002c0006t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0006t0001 a0004c0005t0001	a0001c0001t0001g0005 a0001c0001t0001g0098 a0001c0001t0001g0099 others(74): Show a0001c0001t0001g0005 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0002c0002t0001g0360 a0002c0006t0001g0366 a0004c0005t0001g0252	78	391	0.1995	18	c.94+ others(33): Show c.94+6549_94+6566dupGAGAGAGAGAGAGAAAGA	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPACA7_chr13_112371355_112439689	112416804	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	391	0.0026	18	c.446 others(37): Show c.446-15628_446-15611dupGTGTGTGTGTGTGTGTGT	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPACA7_chr13_112371355_112439689	112430168	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	391	0.0026	18	c.446 others(35): Show c.446-2275_446-2274insGTGTGTGTGTGTGTGTGT	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPACA9_chr9_132873898_132895030	132883499	G G	GGCGTGTG others(11): Show GGCGTGTGTGTACACGCGT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	430	0.0023	18	c.-37 others(33): Show c.-37-401_-37-384dupACACGCGTGCGTGTGTGT	SPACA9	ENSG00000165698.16	transcript	ENST00000356311.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPACDR_chr7_100451620_100469260	100457801	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03688.hp2 NA18998.hp1 HG00140.hp1 HG03688.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0120 a0001c0001t0001g0160 a0001c0001t0001g0161	3	350	0.0086	18	c.388 others(33): Show c.388-817_388-816insCACACACACACACACACA	SPACDR	ENSG00000185955.5	transcript	ENST00000332375.4	protein_coding	2/2			chr7	TogoVar
SPACDR_chr7_100451620_100469260	100457803	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01515.hp2 HG02273.hp1 others(7): Show HG01123.hp2 HG01515.hp2 HG02273.hp1 HG02293.hp1 HG02572.hp1 HG03130.hp1 HG03486.hp1 NA18941.hp1 NA18993.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0081 a0001c0001t0001g0137 others(7): Show a0001c0001t0001g0060 a0001c0001t0001g0081 a0001c0001t0001g0137 a0001c0001t0001g0178 a0001c0001t0001g0210 a0001c0001t0001g0231 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0269 a0001c0001t0001g0289	10	350	0.0286	18	c.388 others(33): Show c.388-836_388-819dupCACACACACACACACACA	SPACDR	ENSG00000185955.5	transcript	ENST00000332375.4	protein_coding	2/2			chr7	TogoVar
SPACDR_chr7_100451620_100469260	100457841	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02300.hp1 NA18966.hp1 HG02080.hp2 HG02300.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0242 a0001c0001t0001g0017 a0001c0001t0001g0242	3	350	0.0086	18	c.388 others(33): Show c.388-857_388-856insTACACACACACACACACA	SPACDR	ENSG00000185955.5	transcript	ENST00000332375.4	protein_coding	2/2			chr7	TogoVar
SPADH_chr10_122667850_122684494	122669737	G G	GGGCTTGG others(11): Show GGGCTTGGAGTTTAGCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	414	0.0024	18	c.-31 others(29): Show c.-3145_-3144insGGCTTGGAGTTTAGCCAT	SPADH	ENSG00000286135.1	transcript	ENST00000652090.1	protein_coding		3112		chr10	TogoVar
SPAG11A_chr8_7843008_7865943	7863213	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 NA18957.hp1 NA19088.hp1 HG02135.hp1 NA18957.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0052 a0001c0001t0001g0086 a0001c0001t0002g0019 a0001c0001t0001g0052 a0001c0001t0001g0086 a0001c0001t0002g0019	3	131	0.0229	18	c.23 others(29): Show c.2380_*2381insTTTTTTTTTTTTTTTTTT	SPAG11A	ENSG00000178287.18	transcript	ENST00000642566.2	protein_coding		2271		chr8	TogoVar
SPAG11B_chr8_7445603_7468542	7448302	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0091 a0002c0002t0001g0091	1	205	0.0049	18	c.23 others(29): Show c.2393_*2410dupTTTTTTTTTTTTTTTTTT	SPAG11B	ENSG00000164871.18	transcript	ENST00000398462.7	protein_coding		2300		chr8	TogoVar
SPAG16_chr2_213279464_214415501	213574650	C C	CATATATA others(11): Show CATATATATGATATATGAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02015.hp2 NA18992.hp2 others(3): Show HG00673.hp2 HG02015.hp2 NA18992.hp2 NA18993.hp2 NA19000.hp1 NA19090.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0059 others(3): Show a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0002t0001g0063 a0002c0002t0001g0064 a0003c0003t0001g0062	6	86	0.0698	18	c.107 others(39): Show c.1070+84601_1070+84618dupATATGATATATGATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213642820	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01516.hp1 HG02922.hp2 HG01361.hp1 HG01516.hp1 HG02922.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0026 a0003c0003t0001g0038 a0003c0003t0002g0042 a0003c0003t0001g0026 a0003c0003t0001g0038 a0003c0003t0002g0042	3	86	0.0349	18	c.107 others(41): Show c.1070+152742_1070+152759dupAAAAAAAAAAAAAAAAAA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213833486	T T	TTATATAT others(11): Show TTATATATATTATATATAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01516.hp2 HG02717.hp1 others(7): Show HG01361.hp1 HG01516.hp2 HG02717.hp1 HG02922.hp2 HG03490.hp2 NA18968.hp1 NA18977.hp1 NA18993.hp1 NA19086.hp1 NA19087.hp1	a0002 a0003 a0011 a0002 a0003 a0011	a0002c0002 a0003c0003 a0011c0009 a0002c0002 a0003c0003 a0011c0009	a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 others(1): Show a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0011c0009t0001	a0002c0002t0001g0058 a0003c0003t0001g0026 a0003c0003t0001g0028 others(7): Show a0002c0002t0001g0058 a0003c0003t0001g0026 a0003c0003t0001g0028 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0055 a0003c0003t0001g0060 a0003c0003t0001g0080 a0003c0003t0002g0042 a0011c0009t0001g0085	10	86	0.1163	18	c.107 others(39): Show c.1071-28991_1071-28990insTTATATATAATATATATA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213859993	T T	TTGATGAT others(11): Show TTGATGATGATGATGATGA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01496.hp1 HG01516.hp1 others(16): Show HG01361.hp1 HG01496.hp1 HG01516.hp1 HG02293.hp2 HG02615.hp1 HG02717.hp1 HG02886.hp2 HG02922.hp2 HG02976.hp2 HG03195.hp1 HG03831.hp1 NA18968.hp1 NA18977.hp1 NA18992.hp1 NA18993.hp1 NA19000.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp2	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0010 a0011	a0001c0001 a0003c0003 a0005c0005 others(2): Show a0001c0001 a0003c0003 a0005c0005 a0010c0011 a0011c0009	a0001c0001t0002 a0003c0003t0001 a0003c0003t0002 others(3): Show a0001c0001t0002 a0003c0003t0001 a0003c0003t0002 a0005c0005t0001 a0010c0011t0001 a0011c0009t0001	a0001c0001t0002g0067 a0003c0003t0001g0026 a0003c0003t0001g0028 others(16): Show a0001c0001t0002g0067 a0003c0003t0001g0026 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0031 a0003c0003t0001g0032 a0003c0003t0001g0038 a0003c0003t0001g0041 a0003c0003t0001g0043 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0050 a0003c0003t0001g0055 a0003c0003t0001g0080 a0003c0003t0002g0042 a0005c0005t0001g0081 a0010c0011t0001g0086 a0011c0009t0001g0085	19	86	0.2209	18	c.107 others(37): Show c.1071-2482_1071-2465dupTGATGATGATGATGATGA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213869297	A A	ATGTGTGT others(11): Show ATGTGTGTATATATATATG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	86	0.0116	18	c.121 others(37): Show c.1214+6670_1214+6671insGTGTGTATATATATATGT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213965402	T T	TATCACAC others(11): Show TATCACACTCAGCTATTAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18522.hp2 HG03453.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0071 a0001c0001t0002g0009 a0001c0001t0001g0071 a0001c0001t0002g0009	2	86	0.0233	18	c.140 others(39): Show c.1400+35259_1400+35276dupTCACACTCAGCTATTAGA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213976135	T T	TATATATA others(11): Show TATATATACACACACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0082 a0006c0006t0001g0082	1	86	0.0116	18	c.140 others(39): Show c.1401-37815_1401-37814insTATATACACACACACACA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213976135	T T	TATATATA others(11): Show TATATATATACACACACAC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0045 a0003c0003t0001g0045	1	86	0.0116	18	c.140 others(39): Show c.1401-37815_1401-37814insTATATATACACACACACA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213976135	T T	TATATATA others(11): Show TATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	86	0.0116	18	c.140 others(39): Show c.1401-37815_1401-37814insTATATATATACACACACA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213980725	T T	TATATATA others(11): Show TATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp1 HG02647.hp1 HG02717.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0066 a0003c0003t0001g0080 a0001c0001t0001g0066 a0003c0003t0001g0080	2	86	0.0233	18	c.140 others(39): Show c.1401-33225_1401-33224insTATATATAGAGAGAGAGA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar

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