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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SPAG16_chr2_213279464_214415501	213980725	T T	TATATATA others(11): Show TATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0041 a0003c0003t0001g0041	1	86	0.0116	18	c.140 others(39): Show c.1401-33225_1401-33224insTATATATATATAGAGAGA		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214059218	A A	ATATATAT others(11): Show ATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0024 a0006c0006t0001g0024	1	86	0.0116	18	c.152 others(39): Show c.1527+45142_1527+45143insATATATATATATGTATGT		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	13/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214149094	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	86	0.0116	18	c.159 others(33): Show c.1594-43_1594-42insTATATATATATATACATA		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214319200	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp2 HG01361.hp2 others(13): Show HG00673.hp1 HG00735.hp2 HG01361.hp2 HG01891.hp2 HG02015.hp1 HG02615.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 NA18968.hp1 NA18968.hp2 NA18992.hp2 NA19043.hp1 NA19086.hp2 NA19090.hp1 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0006c0006 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0006c0006t0001 a0007c0007t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0027 others(13): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0002g0067 a0002c0002t0001g0049 a0002c0002t0001g0056 a0002c0002t0001g0064 a0003c0003t0001g0047 a0003c0003t0001g0060 a0006c0006t0001g0024 a0007c0007t0001g0083	16	86	0.1861	18	c.172 others(39): Show c.1721-90933_1721-90916dupCACACACACACACACACA		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214352558	C C	CTCTGTGT others(11): Show CTCTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG03239.hp1 HG01516.hp1 HG03239.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0013 a0003c0003t0001g0038 a0001c0001t0001g0013 a0003c0003t0001g0038	2	86	0.0233	18	c.172 others(39): Show c.1721-57581_1721-57580insCTGTGTGTGTGTGTGTGT		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214352558	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00735.hp1 HG01496.hp1 others(14): Show HG00673.hp2 HG00735.hp1 HG01496.hp1 HG02015.hp2 HG02109.hp2 HG02293.hp1 HG02559.hp1 HG02647.hp2 HG02976.hp1 HG03225.hp2 HG03831.hp2 NA18968.hp2 NA18977.hp1 NA18993.hp2 NA19000.hp1 NA19087.hp2 NA19090.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0030 others(14): Show a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0070 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0044 a0002c0002t0001g0003 a0002c0002t0001g0054 a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0002t0001g0063 a0002c0002t0001g0064 a0003c0003t0001g0029 a0003c0003t0001g0046 a0003c0003t0001g0062	17	86	0.1977	18	c.172 others(39): Show c.1721-57565_1721-57564insGTGTGTGTGTGTGTGTGT		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG17_chr1_117948590_118190228	118069344	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00741.hp2 others(17): Show HG00140.hp2 HG00642.hp1 HG00741.hp2 HG01071.hp2 HG02015.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp2 HG02258.hp2 HG02451.hp2 HG02622.hp2 HG02922.hp1 HG03098.hp1 HG03654.hp1 NA18943.hp2 NA18948.hp2 NA18949.hp1 NA19056.hp1 NA19082.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0010 a0011 a0020 a0029	a0001c0025 a0003c0003 a0004c0005 others(4): Show a0001c0025 a0003c0003 a0004c0005 a0010c0012 a0011c0015 a0020c0024 a0029c0041	a0001c0025t0001 a0003c0003t0001 a0004c0005t0001 others(4): Show a0001c0025t0001 a0003c0003t0001 a0004c0005t0001 a0010c0012t0001 a0011c0015t0002 a0020c0024t0001 a0029c0041t0001	a0001c0025t0001g0063 a0003c0003t0001g0076 a0003c0003t0001g0078 others(17): Show a0001c0025t0001g0063 a0003c0003t0001g0076 a0003c0003t0001g0078 a0003c0003t0001g0089 a0003c0003t0001g0092 a0003c0003t0001g0108 a0003c0003t0001g0109 a0003c0003t0001g0111 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0127 a0004c0005t0001g0084 a0004c0005t0001g0090 a0004c0005t0001g0094 a0004c0005t0001g0119 a0010c0012t0001g0245 a0010c0012t0001g0247 a0011c0015t0002g0102 a0020c0024t0001g0006 a0029c0041t0001g0093	20	266	0.0752	18	c.238 others(37): Show c.2386-2446_2386-2445insTTTTTTTTTTTTTTTTTT		SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	17/48						chr1	TogoVar
SPAG17_chr1_117948590_118190228	118085510	A A	ATGCGTGC others(11): Show ATGCGTGCGTGCATACGCG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG00735.hp2 others(51): Show HG00438.hp2 HG00621.hp2 HG00735.hp2 HG01109.hp1 HG01346.hp1 HG01934.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02155.hp1 HG02523.hp2 HG02602.hp2 HG02698.hp1 HG02735.hp1 HG03139.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03688.hp1 HG03942.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18941.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp1 NA18963.hp1 NA18967.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18979.hp1 NA18981.hp2 NA18988.hp1 NA18989.hp1 NA18992.hp1 NA19005.hp2 NA19011.hp1 NA19056.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19078.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp2 NA19086.hp1 NA20300.hp2	a0002 a0008 a0019 others(2): Show a0002 a0008 a0019 a0021 a0030	a0002c0002 a0002c0008 a0008c0017 others(4): Show a0002c0002 a0002c0008 a0008c0017 a0008c0033 a0019c0022 a0021c0023 a0030c0034	a0002c0002t0001 a0002c0008t0001 a0008c0017t0001 others(4): Show a0002c0002t0001 a0002c0008t0001 a0008c0017t0001 a0008c0033t0001 a0019c0022t0001 a0021c0023t0001 a0030c0034t0001	a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0011 others(50): Show a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0069 a0002c0002t0001g0263 a0002c0008t0001g0046 a0002c0008t0001g0048 a0002c0008t0001g0049 a0008c0017t0001g0015 a0008c0017t0001g0016 a0008c0033t0001g0014 a0019c0022t0001g0038 a0021c0023t0001g0068 a0030c0034t0001g0053	54	266	0.2030	18	c.176 others(35): Show c.1762+394_1762+411dupCGCGTATGCACGCACGCA		SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	13/48						chr1	TogoVar
SPAG17_chr1_117948590_118190228	118089332	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00597.hp2 others(61): Show HG00280.hp1 HG00423.hp1 HG00597.hp2 HG00642.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01167.hp1 HG01255.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG02015.hp1 HG02056.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02630.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03239.hp1 HG03710.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18943.hp2 NA18948.hp2 NA18949.hp1 NA18963.hp2 NA18967.hp1 NA18973.hp1 NA18983.hp2 NA18990.hp2 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19074.hp2 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp2 NA19087.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(8): Show a0001 a0003 a0004 a0007 a0009 a0010 a0011 a0017 a0018 a0026 a0029	a0001c0004 a0003c0003 a0004c0005 others(8): Show a0001c0004 a0003c0003 a0004c0005 a0007c0013 a0009c0009 a0010c0012 a0011c0015 a0017c0028 a0018c0030 a0026c0040 a0029c0041	a0001c0004t0001 a0001c0004t0003 a0003c0003t0001 others(10): Show a0001c0004t0001 a0001c0004t0003 a0003c0003t0001 a0003c0003t0003 a0004c0005t0001 a0007c0013t0001 a0009c0009t0002 a0010c0012t0001 a0011c0015t0002 a0017c0028t0001 a0018c0030t0001 a0026c0040t0001 a0029c0041t0001	a0001c0004t0001g0143 a0001c0004t0001g0231 a0001c0004t0001g0238 others(61): Show a0001c0004t0001g0143 a0001c0004t0001g0231 a0001c0004t0001g0238 a0001c0004t0003g0082 a0003c0003t0001g0064 a0003c0003t0001g0076 a0003c0003t0001g0078 a0003c0003t0001g0087 a0003c0003t0001g0088 a0003c0003t0001g0089 a0003c0003t0001g0092 a0003c0003t0001g0099 a0003c0003t0001g0101 a0003c0003t0001g0105 a0003c0003t0001g0108 a0003c0003t0001g0110 a0003c0003t0001g0111 a0003c0003t0001g0112 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0118 a0003c0003t0001g0126 a0003c0003t0001g0127 a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0130 a0003c0003t0001g0134 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0001g0256 a0003c0003t0003g0100 a0004c0005t0001g0004 a0004c0005t0001g0081 a0004c0005t0001g0090 a0004c0005t0001g0091 a0004c0005t0001g0094 a0004c0005t0001g0095 a0004c0005t0001g0096 a0004c0005t0001g0097 a0004c0005t0001g0098 a0004c0005t0001g0119 a0004c0005t0001g0125 a0004c0005t0001g0133 a0004c0005t0001g0142 a0004c0005t0001g0242 a0004c0005t0001g0243 a0004c0005t0001g0244 a0004c0005t0001g0248 a0007c0013t0001g0121 a0007c0013t0001g0132 a0007c0013t0001g0135 a0009c0009t0002g0077 a0009c0009t0002g0107 a0010c0012t0001g0245 a0010c0012t0001g0246 a0010c0012t0001g0247 a0011c0015t0002g0079 a0011c0015t0002g0102 a0017c0028t0001g0117 a0018c0030t0001g0138 a0026c0040t0001g0122 a0029c0041t0001g0093	64	266	0.2406	18	c.135 others(37): Show c.1359+2256_1359+2273dupACACACACACACACACAC		SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	10/48						chr1	TogoVar
SPAG17_chr1_117948590_118190228	118089354	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0067 a0001c0032t0001g0067	1	266	0.0038	18	c.135 others(37): Show c.1359+2251_1359+2252insTCACACACACACACACAC		SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	10/48						chr1	TogoVar
SPAG17_chr1_117948590_118190228	118103840	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA18967.hp1 NA19087.hp1 HG02148.hp2 NA18967.hp1 NA19087.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0216 a0001c0001t0001g0217 a0004c0005t0001g0242 a0001c0001t0001g0216 a0001c0001t0001g0217 a0004c0005t0001g0242	3	266	0.0113	18	c.448 others(35): Show c.448-1932_448-1915dupACACACACACACACACAC		SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	4/48						chr1	TogoVar
SPAG17_chr1_117948590_118190228	118111553	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02647.hp1 HG02896.hp1 others(1): Show HG01433.hp2 HG02647.hp1 HG02896.hp1 HG03098.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0027 a0001c0004 a0001c0006 a0001c0027	a0001c0004t0001 a0001c0006t0001 a0001c0027t0001 a0001c0004t0001 a0001c0006t0001 a0001c0027t0001	a0001c0004t0001g0223 a0001c0004t0001g0238 a0001c0006t0001g0252 others(1): Show a0001c0004t0001g0223 a0001c0004t0001g0238 a0001c0006t0001g0252 a0001c0027t0001g0221	4	266	0.0150	18	c.447 others(35): Show c.447+3739_447+3756dupGTGTGTGTGTGTGTGTGT		SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	4/48						chr1	TogoVar
SPAG1_chr8_100153587_100246904	100168687	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03209.hp1 HG03540.hp1 HG02559.hp1 HG03209.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0003g0200 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0003g0200	3	366	0.0082	18	c.300 others(35): Show c.300+2725_300+2726insTTTTTTTTTTTTTTTTTT		SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAG1_chr8_100153587_100246904	100213013	C C	CCCGCGGC others(11): Show CCCGCGGCCTCCGCGGCCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp1 HG02976.hp1 others(2): Show HG02145.hp2 HG02280.hp1 HG02976.hp1 HG03209.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0007 a0001c0003 a0002c0007	a0001c0003t0001 a0002c0007t0001 a0001c0003t0001 a0002c0007t0001	a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0018 others(2): Show a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0075 a0002c0007t0001g0106	5	366	0.0137	18	c.109 others(33): Show c.1097-69_1097-52dupCTCCGCGGCCTCCGCGGC		SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	10/18					INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 NA20300.hp1 HG03017.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	320	0.0063	18	c.-58 others(27): Show c.-580_-579insAGAAAGAAAGAAAGAAAG		SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding					404		chr20	TogoVar
SPAG4_chr20_35610829_35626094	35615460	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02698.hp2 HG03704.hp2 others(1): Show HG02602.hp2 HG02698.hp2 HG03704.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0004 a0001c0001t0001g0016	4	320	0.0125	18	c.-54 others(27): Show c.-544_-543insAAAGAAAGAAAGAAAAGA		SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding					368		chr20	TogoVar
SPAG6_chr10_22340496_22422610	22346430	G G	GTTCTTCT others(11): Show GTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	142	0.0070	18	c.121 others(33): Show c.121+663_121+680dupCTTCTTCTTCTTCTTCTT		SPAG6	ENSG00000077327.16	transcript	ENST00000376624.8	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
SPAG9_chr17_50957174_51125868	51022943	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02055.hp1 HG02451.hp2 others(13): Show HG01099.hp2 HG02055.hp1 HG02451.hp2 HG02647.hp2 HG02683.hp1 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03516.hp2 HG03579.hp2 HG04199.hp2 NA18906.hp1 NA19030.hp2 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0002c0003t0005 a0002c0003t0007 a0002c0003t0011 a0002c0004t0005	a0001c0001t0001g0262 a0001c0001t0004g0179 a0001c0002t0001g0276 others(13): Show a0001c0001t0001g0262 a0001c0001t0004g0179 a0001c0002t0001g0276 a0002c0003t0005g0093 a0002c0003t0007g0076 a0002c0003t0007g0095 a0002c0003t0007g0101 a0002c0003t0007g0127 a0002c0003t0007g0165 a0002c0003t0011g0192 a0002c0004t0005g0001 a0002c0004t0005g0003 a0002c0004t0005g0005 a0002c0004t0005g0006 a0002c0004t0005g0007 a0002c0004t0005g0010	16	292	0.0548	18	c.784 others(35): Show c.784-1596_784-1579dupATTATTATTATTATTATT		SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	6/29						chr17	TogoVar
SPAG9_chr17_50957174_51125868	51037665	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0001 a0002c0004t0005g0001	1	292	0.0034	18	c.741 others(35): Show c.741+3818_741+3835dupTATATATATATATATATA		SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	5/29						chr17	TogoVar
SPAG9_chr17_50957174_51125868	51053855	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	292	0.0034	18	c.495 others(35): Show c.495+2539_495+2556dupTATATATATATATATATA		SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	3/29						chr17	TogoVar
SPAG9_chr17_50957174_51125868	51089661	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02165.hp2 HG02486.hp1 others(3): Show HG00609.hp2 HG02165.hp2 HG02486.hp1 HG02622.hp1 HG02630.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0029 a0001c0001t0003g0038 others(3): Show a0001c0001t0003g0018 a0001c0001t0003g0029 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0046 a0001c0001t0003g0049	6	292	0.0206	18	c.304 others(35): Show c.304-9958_304-9957insGTATATATATATATATAT		SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	1/29						chr17	TogoVar
SPAG9_chr17_50957174_51125868	51096038	G G	GATATATA others(11): Show GATATATATATATAGTGAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02896.hp1 HG01081.hp2 HG02896.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0010 a0001c0001t0004 a0002c0003t0010	a0001c0001t0004g0181 a0002c0003t0010g0196 a0001c0001t0004g0181 a0002c0003t0010g0196	2	292	0.0069	18	c.304 others(37): Show c.304-16352_304-16335dupATCACTATATATATATAT		SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	1/29						chr17	TogoVar
SPAG9_chr17_50957174_51125868	51096038	G G	GATATATA others(11): Show GATATATATATATATAGTG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	292	0.0034	18	c.304 others(37): Show c.304-16335_304-16334insCACTATATATATATATAT		SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	1/29						chr17	TogoVar
SPAG9_chr17_50957174_51125868	51104932	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02258.hp2 others(8): Show HG01243.hp2 HG01884.hp2 HG02258.hp2 HG02451.hp2 HG02683.hp1 HG02809.hp2 HG02965.hp1 HG03195.hp2 HG03239.hp1 HG03540.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 a0001c0001 a0002c0003 a0002c0004	a0001c0001t0001 a0002c0003t0007 a0002c0003t0008 others(4): Show a0001c0001t0001 a0002c0003t0007 a0002c0003t0008 a0002c0003t0021 a0002c0004t0005 a0002c0004t0007 a0002c0004t0016	a0001c0001t0001g0202 a0002c0003t0007g0076 a0002c0003t0007g0127 others(8): Show a0001c0001t0001g0202 a0002c0003t0007g0076 a0002c0003t0007g0127 a0002c0003t0008g0287 a0002c0003t0021g0066 a0002c0004t0005g0003 a0002c0004t0005g0004 a0002c0004t0005g0005 a0002c0004t0005g0007 a0002c0004t0007g0009 a0002c0004t0016g0002	11	292	0.0377	18	c.303 others(37): Show c.303+15421_303+15422insTTTTTTTTTTTTTTTTTT		SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	1/29						chr17	TogoVar
SPAG9_chr17_50957174_51125868	51106102	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	292	0.0034	18	c.303 others(37): Show c.303+14234_303+14251dupGTGTGTGTGTGTGTGTGT		SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	1/29						chr17	TogoVar
SPANXA2_chrX_141584708_141595762	141589834	G G	GAGGCCAA others(11): Show GAGGCCAATGAGGCCAACA	conservative_inframe_insertion others(1): Show conservative_inframe_insertion splice_region_variant	MODERATE	HG02615.hp2 HG02818.hp1 HG02895.hp1 others(1): Show HG02615.hp2 HG02818.hp1 HG02895.hp1 HG03209.hp1	a0004 a0004	a0004c0006 a0004c0017 a0004c0018 a0004c0006 a0004c0017 a0004c0018	a0004c0006t0004 a0004c0006t0009 a0004c0017t0004 others(1): Show a0004c0006t0004 a0004c0006t0009 a0004c0017t0004 a0004c0018t0004	a0004c0006t0004g0010 a0004c0006t0009g0010 a0004c0017t0004g0009 others(1): Show a0004c0006t0004g0010 a0004c0006t0009g0010 a0004c0017t0004g0009 a0004c0018t0004g0009	4	185	0.0216	18	c.69_ others(23): Show c.69_70insGCCAATGAGGCCAACAAG	p.Glu others(29): Show p.Glu23_Met24insAlaAsnGluAlaAsnLys	SPANXA2	ENSG00000203926.5	transcript	ENST00000370518.4	protein_coding	1/2	130/408	70/294	24/97		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPANXC_chrX_141236463_141247517	141242388	T T	TCTTGTTG others(11): Show TCTTGTTGGCCTCACTGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03516.hp2 HG03516.hp2	a0020 a0020	a0020c0016 a0020c0016	a0020c0016t0001 a0020c0016t0001	a0020c0016t0001g0038 a0020c0016t0001g0038	1	344	0.0029	18	c.69_ others(23): Show c.69_70insGCCAGTGAGGCCAACAAG	p.Glu others(29): Show p.Glu23_Met24insAlaSerGluAlaAsnLys	SPANXC	ENSG00000198573.7	transcript	ENST00000358993.3	protein_coding	1/2	129/408	69/294	23/97			chrX	TogoVar
SPANXC_chrX_141236463_141247517	141242388	T T	TCTTGTTG others(11): Show TCTTGTTGGCCTCATTGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02647.hp1 NA19010.hp2 HG02647.hp1 NA19010.hp2	a0018 a0021 a0018 a0021	a0018c0022 a0021c0023 a0018c0022 a0021c0023	a0018c0022t0011 a0021c0023t0010 a0018c0022t0011 a0021c0023t0010	a0018c0022t0011g0052 a0021c0023t0010g0053 a0018c0022t0011g0052 a0021c0023t0010g0053	2	344	0.0058	18	c.69_ others(23): Show c.69_70insGCCAATGAGGCCAACAAG	p.Glu others(29): Show p.Glu23_Met24insAlaAsnGluAlaAsnLys	SPANXC	ENSG00000198573.7	transcript	ENST00000358993.3	protein_coding	1/2	129/408	69/294	23/97			chrX	TogoVar
SPANXN1_chrX_145242503_145261208	145260654	C C	CTCTCTCT others(11): Show CTCTCTCTCTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0055	1	334	0.0030	18	c.48 others(29): Show c.4840_*4841insTCTCTCTCTGTGTGTGTG		SPANXN1	ENSG00000203923.5	transcript	ENST00000370493.4	protein_coding					4447		chrX	TogoVar
SPANXN1_chrX_145242503_145261208	145260654	C C	CTCTCTCT others(11): Show CTCTCTCTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02735.hp1 HG03239.hp2 others(7): Show HG01891.hp1 HG02735.hp1 HG03239.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp1 NA18988.hp1 NA19007.hp1 NA19059.hp2 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0002 a0001c0002t0002 a0001c0003t0002	a0001c0002t0002g0003 a0001c0002t0002g0023 a0001c0002t0002g0071 others(1): Show a0001c0002t0002g0003 a0001c0002t0002g0023 a0001c0002t0002g0071 a0001c0003t0002g0041	10	334	0.0299	18	c.48 others(29): Show c.4840_*4841insTCTCTCTGTGTGTGTGTG		SPANXN1	ENSG00000203923.5	transcript	ENST00000370493.4	protein_coding					4447		chrX	TogoVar
SPAST_chr2_32058556_32162637	32083774	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18955.hp1 NA18998.hp1 others(1): Show HG00558.hp1 NA18955.hp1 NA18998.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0146 a0001c0001t0001g0153 others(1): Show a0001c0001t0001g0118 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0165	4	342	0.0117	18	c.416 others(35): Show c.416-3717_416-3716insTTTTTTTTTTTTTTTTTT		SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32083776	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18943.hp1 HG00597.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0126 a0001c0001t0001g0132	2	342	0.0059	18	c.416 others(35): Show c.416-3701_416-3700insTTTTTTTTTTTTTTTTTT		SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32089218	T T	TTTTTTTT others(11): Show TTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0065 a0001c0001t0021g0065	1	342	0.0029	18	c.503 others(33): Show c.503-304_503-303insTTTTTTTTTTTTTTTTTC		SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	2/16						chr2	TogoVar
SPATA13_chr13_24155720_24312069	24190289	A A	ATTATATA others(11): Show ATTATATACCATATGGTAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG02723.hp2 others(2): Show HG00735.hp1 HG01074.hp1 HG02723.hp2 HG02976.hp2 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0013 others(2): Show a0001c0001 a0001c0002 a0001c0013 a0002c0007 a0002c0008	a0001c0001t0003 a0001c0002t0085 a0001c0013t0128 others(2): Show a0001c0001t0003 a0001c0002t0085 a0001c0013t0128 a0002c0007t0012 a0002c0008t0103	a0001c0001t0003g0024 a0001c0002t0085g0020 a0001c0013t0128g0120 others(2): Show a0001c0001t0003g0024 a0001c0002t0085g0020 a0001c0013t0128g0120 a0002c0007t0012g0023 a0002c0008t0103g0054	5	356	0.0140	18	c.-11 others(39): Show c.-112+29357_-112+29358insTTATATACCATATGGTAT		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12						chr13	TogoVar
SPATA13_chr13_24155720_24312069	24309283	T T	TTATATAT others(11): Show TTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03471.hp2 HG03516.hp2 others(1): Show HG03195.hp1 HG03471.hp2 HG03516.hp2 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0024 others(1): Show a0001c0001 a0001c0006 a0001c0024 a0002c0008	a0001c0001t0015 a0001c0006t0031 a0001c0024t0100 others(1): Show a0001c0001t0015 a0001c0006t0031 a0001c0024t0100 a0002c0008t0095	a0001c0001t0015g0347 a0001c0006t0031g0224 a0001c0024t0100g0350 others(1): Show a0001c0001t0015g0347 a0001c0006t0031g0224 a0001c0024t0100g0350 a0002c0008t0095g0155	4	356	0.0112	18	c.65 others(29): Show c.6510_*6511insTATATATATATATATATA		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding					2215		chr13	TogoVar
SPATA16_chr3_172884357_173146235	173069112	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp1 HG03139.hp2 others(1): Show HG02615.hp2 HG02630.hp1 HG03139.hp2 HG03471.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0010c0011	a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 a0010c0011t0003	a0001c0001t0001g0163 a0002c0002t0001g0145 a0002c0005t0001g0148 others(1): Show a0001c0001t0001g0163 a0002c0002t0001g0145 a0002c0005t0001g0148 a0010c0011t0003g0010	4	200	0.0200	18	c.613 others(37): Show c.613-20019_613-20018insTTTTTTTTTTTTTTTTTT		SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	2/10						chr3	TogoVar
SPATA17_chr1_217626344_217876696	217685063	C C	CTGGCTGG others(11): Show CTGGCTGGCTGTCTACAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00609.hp1 others(58): Show HG00280.hp2 HG00323.hp2 HG00609.hp1 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp1 HG01361.hp1 HG01433.hp1 HG01891.hp1 HG01981.hp1 HG02165.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp2 HG02735.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp2 HG03704.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18941.hp1 NA18942.hp1 NA18949.hp1 NA18957.hp2 NA18968.hp1 NA18969.hp1 NA18975.hp2 NA18990.hp1 NA19003.hp1 NA19005.hp1 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19066.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0005c0013	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(28): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0015 a0001c0001t0024 a0001c0001t0042 a0001c0002t0044 a0001c0003t0001 a0001c0003t0003 a0001c0003t0014 a0001c0003t0024 a0001c0003t0029 a0001c0003t0031 a0001c0003t0038 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0001c0004t0008 a0001c0004t0027 a0001c0004t0032 a0001c0004t0034 a0001c0004t0052 a0001c0004t0053 a0001c0004t0055 a0001c0008t0014 a0001c0008t0051 a0001c0009t0019 a0001c0011t0037 a0001c0012t0004 a0005c0013t0033	a0001c0001t0001g0090 a0001c0001t0001g0209 a0001c0001t0005g0084 others(58): Show a0001c0001t0001g0090 a0001c0001t0001g0209 a0001c0001t0005g0084 a0001c0001t0005g0089 a0001c0001t0006g0096 a0001c0001t0006g0201 a0001c0001t0006g0202 a0001c0001t0006g0203 a0001c0001t0006g0204 a0001c0001t0006g0205 a0001c0001t0008g0045 a0001c0001t0015g0093 a0001c0001t0024g0040 a0001c0001t0042g0035 a0001c0002t0044g0091 a0001c0003t0001g0215 a0001c0003t0001g0220 a0001c0003t0001g0231 a0001c0003t0003g0097 a0001c0003t0003g0098 a0001c0003t0003g0210 a0001c0003t0003g0211 a0001c0003t0003g0212 a0001c0003t0003g0214 a0001c0003t0003g0217 a0001c0003t0003g0218 a0001c0003t0003g0221 a0001c0003t0003g0222 a0001c0003t0003g0223 a0001c0003t0003g0224 a0001c0003t0003g0226 a0001c0003t0003g0228 a0001c0003t0003g0229 a0001c0003t0003g0235 a0001c0003t0014g0230 a0001c0003t0024g0243 a0001c0003t0029g0063 a0001c0003t0031g0225 a0001c0003t0038g0244 a0001c0004t0001g0219 a0001c0004t0004g0073 a0001c0004t0004g0240 a0001c0004t0004g0246 a0001c0004t0004g0247 a0001c0004t0004g0248 a0001c0004t0004g0252 a0001c0004t0005g0233 a0001c0004t0005g0250 a0001c0004t0008g0241 a0001c0004t0027g0237 a0001c0004t0032g0186 a0001c0004t0034g0251 a0001c0004t0052g0238 a0001c0004t0053g0239 a0001c0004t0055g0242 a0001c0008t0014g0213 a0001c0008t0051g0234 a0001c0009t0019g0092 a0001c0011t0037g0249 a0001c0012t0004g0042 a0005c0013t0033g0095	61	252	0.2421	18	c.395 others(35): Show c.395+1708_395+1709insGCTGTCTACAAATGGCTG		SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217714488	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0097 a0001c0003t0003g0097	1	252	0.0040	18	c.396 others(37): Show c.396-27473_396-27472insTTTTTTTTTTTTTTTTTT		SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217732084	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG01069.hp1 others(18): Show HG00280.hp2 HG00609.hp1 HG01069.hp1 HG01361.hp1 HG02735.hp2 HG03130.hp2 HG03704.hp2 HG04204.hp2 NA18612.hp1 NA18941.hp1 NA18942.hp1 NA18949.hp1 NA18957.hp2 NA18969.hp1 NA18975.hp2 NA19003.hp1 NA19005.hp1 NA19043.hp2 NA19063.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0008 others(1): Show a0001c0003 a0001c0004 a0001c0008 a0001c0012	a0001c0003t0001 a0001c0003t0003 a0001c0003t0014 others(5): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0014 a0001c0003t0029 a0001c0004t0004 a0001c0008t0014 a0001c0008t0051 a0001c0012t0004	a0001c0003t0001g0215 a0001c0003t0001g0220 a0001c0003t0003g0097 others(18): Show a0001c0003t0001g0215 a0001c0003t0001g0220 a0001c0003t0003g0097 a0001c0003t0003g0098 a0001c0003t0003g0210 a0001c0003t0003g0211 a0001c0003t0003g0212 a0001c0003t0003g0214 a0001c0003t0003g0217 a0001c0003t0003g0218 a0001c0003t0003g0221 a0001c0003t0003g0222 a0001c0003t0003g0224 a0001c0003t0003g0229 a0001c0003t0003g0235 a0001c0003t0014g0230 a0001c0003t0029g0063 a0001c0004t0004g0073 a0001c0008t0014g0213 a0001c0008t0051g0234 a0001c0012t0004g0042	21	252	0.0833	18	c.396 others(35): Show c.396-9885_396-9868dupCTCTCTCTCTCTCTCTCT		SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749979	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19066.hp2 HG02559.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0090 a0001c0002t0001g0104 a0001c0001t0001g0090 a0001c0002t0001g0104	2	252	0.0079	18	c.519 others(35): Show c.519+7882_519+7883insATATATATATATATATAT		SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749981	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19063.hp2 HG02976.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0038 a0001c0002t0001 a0001c0003t0038	a0001c0002t0001g0083 a0001c0003t0038g0244 a0001c0002t0001g0083 a0001c0003t0038g0244	2	252	0.0079	18	c.519 others(35): Show c.519+7884_519+7885insATATATATATATATATAT		SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749983	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03017.hp1 HG00280.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0140 a0001c0003t0003g0221 a0001c0001t0001g0140 a0001c0003t0003g0221	2	252	0.0079	18	c.519 others(35): Show c.519+7886_519+7887insATATATATATATATATAT		SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0009 a0003c0007t0009	a0003c0007t0009g0116 a0003c0007t0009g0116	1	252	0.0040	18	c.519 others(35): Show c.519+7897_519+7914dupATATATATATATATATAT		SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTCTATAT others(11): Show CTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA18942.hp1 HG00323.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0003 a0001c0001t0006 a0001c0003t0003	a0001c0001t0006g0205 a0001c0003t0003g0211 a0001c0001t0006g0205 a0001c0003t0003g0211	2	252	0.0079	18	c.519 others(35): Show c.519+7888_519+7889insCTATATATATATATATAT		SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTCTCTAT others(11): Show CTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0029 a0001c0001t0010g0029	1	252	0.0040	18	c.519 others(35): Show c.519+7888_519+7889insCTCTATATATATATATAT		SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTCTCTCT others(11): Show CTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19077.hp2 HG03098.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0048 a0001c0001t0002 a0001c0001t0048	a0001c0001t0002g0006 a0001c0001t0048g0110 a0001c0001t0002g0006 a0001c0001t0048g0110	2	252	0.0079	18	c.519 others(35): Show c.519+7888_519+7889insCTCTCTATATATATATAT		SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217749985	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0161 a0001c0001t0006g0161	1	252	0.0040	18	c.519 others(35): Show c.519+7888_519+7889insCTCTCTCTCTATATATAT		SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217770978	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03041.hp2 HG03453.hp1 HG02723.hp2 HG03041.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0024 a0001c0004t0004 a0001c0001t0024 a0001c0004t0004	a0001c0001t0024g0040 a0001c0004t0004g0240 a0001c0004t0004g0247 a0001c0001t0024g0040 a0001c0004t0004g0240 a0001c0004t0004g0247	3	252	0.0119	18	c.520 others(35): Show c.520-3343_520-3326dupTTTTTTTTTTTTTTTTTT		SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217786750	T T	TTTCTTCT others(11): Show TTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01981.hp2 HG02523.hp1 others(7): Show HG00438.hp1 HG01981.hp2 HG02523.hp1 HG03471.hp2 HG03704.hp2 NA18954.hp2 NA18968.hp2 NA18990.hp1 NA19063.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0011 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0011 a0001c0002t0013 a0001c0003t0001 a0001c0003t0003 a0001c0003t0031	a0001c0001t0001g0011 a0001c0002t0001g0083 a0001c0002t0001g0103 others(7): Show a0001c0001t0001g0011 a0001c0002t0001g0083 a0001c0002t0001g0103 a0001c0002t0001g0126 a0001c0002t0001g0180 a0001c0002t0011g0199 a0001c0002t0013g0099 a0001c0003t0001g0215 a0001c0003t0003g0226 a0001c0003t0031g0225	10	252	0.0397	18	c.872 others(35): Show c.872+4474_872+4491dupTTCTTCTTCTTCTTCTTC		SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA21_chr1_16393643_16442424	16426557	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02080.hp1 HG02080.hp2 others(7): Show HG00673.hp2 HG02080.hp1 HG02080.hp2 HG02572.hp1 NA18966.hp1 NA18993.hp2 NA19000.hp1 NA19065.hp2 NA19070.hp2 NA19074.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0023 a0001c0001t0001g0056 a0001c0001t0001g0067 others(7): Show a0001c0001t0001g0023 a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0218 a0001c0001t0001g0219 a0003c0003t0001g0022	10	352	0.0284	18	c.35- others(33): Show c.35-4604_35-4587dupTATATATATATATATATA		SPATA21	ENSG00000187144.11	transcript	ENST00000335496.5	protein_coding	3/12						chr1	TogoVar

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