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
SPACA5B_chrX_48125626_48137620	48136572	C C	CTTTTTTT others(1): Show CTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG01070.hp1 others(12): Show HG00438.hp2 HG00609.hp1 HG01070.hp1 HG01169.hp1 HG01255.hp1 HG01891.hp2 HG02074.hp1 HG02080.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp2 NA18963.hp2 NA18969.hp1 NA18971.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004	15	312	0.0481	8	c.40 others(19): Show c.4043_*4044insTTTTTTTT	SPACA5B	ENSG00000171478.8	transcript	ENST00000304270.6	protein_coding		3953		chrX	TogoVar
SPACA5_chrX_48001988_48014733	48012915	C C	CAAAAAAA others(1): Show CAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01891.hp1 HG02559.hp2 others(1): Show HG01123.hp1 HG01891.hp1 HG02559.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003	4	292	0.0137	8	c.32 others(19): Show c.3270_*3271insAAAAAAAA	SPACA5	ENSG00000171489.11	transcript	ENST00000376940.4	protein_coding		3183		chrX	TogoVar
SPACA5_chrX_48001988_48014733	48013009	C C	CTGCTTGC others(1): Show CTGCTTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02451.hp2 HG03453.hp1 HG00735.hp2 HG02451.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0004 a0001c0001t0001g0005	3	292	0.0103	8	c.33 others(19): Show c.3364_*3365insTGCTTGCT	SPACA5	ENSG00000171489.11	transcript	ENST00000376940.4	protein_coding		3277		chrX	TogoVar
SPACA5_chrX_48001988_48014733	48014280	C C	CTTTTTTT others(1): Show CTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	292	0.0069	8	c.46 others(19): Show c.4635_*4636insTTTTTTTT	SPACA5	ENSG00000171489.11	transcript	ENST00000376940.4	protein_coding		4548		chrX	TogoVar
SPACA6_chr19_51688330_51710190	51688937	G G	GGAGGGAG others(1): Show GGAGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(243): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0010	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0010 a0001c0012 a0002c0004 a0004c0006 a0008c0011 a0010c0013	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0008t0001 a0001c0010t0001 a0001c0012t0001 a0002c0004t0001 a0004c0006t0001 a0008c0011t0001 a0010c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(71): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0002t0001g0003 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0043 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0054 a0001c0003t0001g0012 a0001c0003t0001g0081 a0001c0008t0001g0044 a0001c0010t0001g0079 a0001c0012t0001g0001 a0002c0004t0001g0018 a0002c0004t0001g0031 a0002c0004t0001g0050 a0002c0004t0001g0053 a0004c0006t0001g0004 a0008c0011t0001g0039 a0010c0013t0001g0031	246	416	0.5914	8	c.-45 others(19): Show c.-4590_-4589insGAGGGAGA	SPACA6	ENSG00000182310.16	transcript	ENST00000637797.2	protein_coding		4392		chr19	TogoVar
SPACA7_chr13_112371355_112439689	112416289	T T	TTGTTGTT others(1): Show TTGTTGTTG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01975.hp2 HG02071.hp1 others(40): Show HG01261.hp2 HG01975.hp2 HG02071.hp1 HG02145.hp1 HG02258.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG03490.hp1 HG03579.hp1 HG03579.hp2 HG04199.hp1 HG06807.hp1 NA18955.hp2 NA18963.hp1 NA18977.hp2 NA18980.hp2 NA18983.hp2 NA18999.hp1 NA19003.hp1 NA19063.hp1 NA19076.hp2 NA19077.hp1 NA19080.hp2 NA19082.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0103 a0001c0001t0001g0145 others(38): Show a0001c0001t0001g0001 a0001c0001t0001g0103 a0001c0001t0001g0145 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0348 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0070 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0004g0204	43	391	0.1100	8	c.445 others(27): Show c.445+15126_445+15127insGTTGTTGT	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPACA7_chr13_112371355_112439689	112416804	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02647.hp2 HG02895.hp2 others(1): Show HG02273.hp2 HG02647.hp2 HG02895.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0311 a0001c0001t0001g0332 others(1): Show a0001c0001t0001g0306 a0001c0001t0001g0311 a0001c0001t0001g0332 a0001c0001t0001g0333	4	391	0.0102	8	c.446 others(27): Show c.446-15618_446-15611dupGTGTGTGT	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(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG01099.hp2 others(23): Show HG00099.hp2 HG00735.hp2 HG01099.hp2 HG01106.hp1 HG01175.hp2 HG01192.hp2 HG01257.hp1 HG01346.hp1 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG02109.hp1 HG02257.hp1 HG02300.hp2 HG02735.hp1 HG02738.hp1 HG02895.hp2 HG03130.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03704.hp1 HG03942.hp1 HG06807.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0007 a0001c0001 a0001c0003 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0003c0007t0001	a0001c0001t0001g0009 a0001c0001t0001g0268 a0001c0001t0001g0303 others(22): Show a0001c0001t0001g0009 a0001c0001t0001g0268 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0323 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0336 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0002g0345 a0001c0003t0001g0283 a0003c0007t0001g0339	26	391	0.0665	8	c.446 others(25): Show c.446-2275_446-2274insGTGTGTGT	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPACA7_chr13_112371355_112439689	112430172	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG00609.hp2 others(40): Show HG00558.hp2 HG00597.hp2 HG00609.hp2 HG01070.hp2 HG01943.hp2 HG01975.hp2 HG02027.hp1 HG02132.hp2 HG02148.hp1 HG02300.hp1 HG02523.hp2 NA18612.hp2 NA18942.hp2 NA18946.hp1 NA18952.hp1 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18971.hp2 NA18975.hp1 NA18980.hp1 NA18982.hp1 NA18985.hp1 NA18987.hp2 NA18995.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19054.hp2 NA19064.hp1 NA19068.hp2 NA19074.hp1 NA19076.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0098 a0001c0001t0001g0099 others(39): Show a0001c0001t0001g0005 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0350 a0001c0001t0002g0044	43	391	0.1100	8	c.446 others(25): Show c.446-2271_446-2270insGTGTGTGT	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPACA7_chr13_112371355_112439689	112430174	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01261.hp2 HG02451.hp1 others(13): Show HG01243.hp1 HG01261.hp2 HG02451.hp1 HG02717.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp2 HG03225.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp1 NA18951.hp2 NA18974.hp2 NA18997.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0274 a0001c0001t0001g0280 a0001c0001t0001g0282 others(13): Show a0001c0001t0001g0274 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0371 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0381 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0082 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0097 a0002c0002t0001g0154	16	391	0.0409	8	c.446 others(25): Show c.446-2242_446-2235dupGTGTGTGT	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPACA9_chr9_132873898_132895030	132887134	T T	TGTCTATC others(1): Show TGTCTATCC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02004.hp1 HG02293.hp2 others(6): Show HG01346.hp2 HG02004.hp1 HG02293.hp2 HG02683.hp1 HG03688.hp1 NA18612.hp2 NA18960.hp2 NA18989.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0031 a0001c0001t0001g0056 others(2): Show a0001c0001t0001g0013 a0001c0001t0001g0031 a0001c0001t0001g0056 a0001c0001t0001g0070 a0001c0001t0001g0074	9	430	0.0209	8	c.145 others(23): Show c.145-235_145-234insGTCTATCC	SPACA9	ENSG00000165698.16	transcript	ENST00000356311.10	protein_coding	2/3			chr9	TogoVar
SPACDR_chr7_100451620_100469260	100457801	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02976.hp1 HG03130.hp2 others(6): Show HG02723.hp1 HG02976.hp1 HG03130.hp2 HG03239.hp1 HG03486.hp2 HG03491.hp1 HG03704.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0049 a0001c0001t0001g0076 others(5): Show a0001c0001t0001g0022 a0001c0001t0001g0049 a0001c0001t0001g0076 a0001c0001t0001g0142 a0001c0001t0001g0182 a0001c0001t0001g0198 a0001c0001t0001g0268 a0001c0001t0001g0274	9	350	0.0257	8	c.388 others(23): Show c.388-817_388-816insCACACACA	SPACDR	ENSG00000185955.5	transcript	ENST00000332375.4	protein_coding	2/2			chr7	TogoVar
SPACDR_chr7_100451620_100469260	100457803	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01074.hp1 HG01934.hp2 others(16): Show HG00323.hp1 HG01074.hp1 HG01934.hp2 HG02145.hp1 HG02280.hp1 HG02451.hp1 HG02523.hp2 HG02818.hp2 HG02976.hp2 HG03195.hp1 HG04184.hp1 NA18948.hp2 NA18989.hp1 NA19004.hp1 NA19005.hp1 NA19030.hp1 NA19088.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0085 a0001c0001t0001g0123 others(14): Show a0001c0001t0001g0005 a0001c0001t0001g0085 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0143 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0226 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0262 a0001c0001t0001g0283 a0001c0001t0001g0287 a0001c0001t0001g0293 a0001c0001t0001g0294	19	350	0.0543	8	c.388 others(23): Show c.388-826_388-819dupCACACACA	SPACDR	ENSG00000185955.5	transcript	ENST00000332375.4	protein_coding	2/2			chr7	TogoVar
SPACDR_chr7_100451620_100469260	100457841	G G	GTGTGTGT others(1): Show GTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02615.hp1 others(4): Show HG01891.hp2 HG02257.hp1 HG02615.hp1 HG02630.hp2 HG02886.hp2 HG03139.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0051	7	350	0.0200	8	c.388 others(23): Show c.388-857_388-856insTACACACA	SPACDR	ENSG00000185955.5	transcript	ENST00000332375.4	protein_coding	2/2			chr7	TogoVar
SPAG11B_chr8_7445603_7468542	7448302	C C	CAAAAAAA others(1): Show CAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01069.hp2 HG01074.hp1 others(25): Show HG00558.hp1 HG01069.hp2 HG01074.hp1 HG01515.hp1 HG01517.hp1 HG02015.hp2 HG02523.hp2 HG02559.hp1 HG02738.hp1 HG03017.hp1 HG03710.hp2 NA18942.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18964.hp1 NA18973.hp1 NA18975.hp2 NA18980.hp2 NA19002.hp2 NA19004.hp2 NA19011.hp2 NA19064.hp1 NA19068.hp1 NA19076.hp2 NA19091.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0004 others(12): Show a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0002g0028 a0002c0002t0002g0029	28	205	0.1366	8	c.24 others(19): Show c.2403_*2410dupTTTTTTTT	SPAG11B	ENSG00000164871.18	transcript	ENST00000398462.7	protein_coding		2300		chr8	TogoVar
SPAG16_chr2_213279464_214415501	213361789	C C	CCACACAC others(1): Show CCACACACA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01496.hp2 HG02615.hp1 others(3): Show HG01361.hp2 HG01496.hp2 HG02615.hp1 HG03098.hp1 HG03225.hp2 HG03471.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0005c0005t0001	a0001c0001t0001g0068 a0001c0001t0002g0006 a0001c0001t0002g0007 others(3): Show a0001c0001t0001g0068 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0067 a0002c0002t0001g0053 a0005c0005t0001g0005	6	86	0.0698	8	c.763 others(25): Show c.763-2254_763-2247dupCACACACA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213387431	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03195.hp1 HG03453.hp1 others(3): Show HG02559.hp1 HG03195.hp1 HG03453.hp1 HG03471.hp1 HG03831.hp1 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0001c0001t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0001g0036 a0001c0001t0002g0006 a0001c0001t0002g0008 others(3): Show a0001c0001t0001g0036 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0009 a0003c0003t0001g0041 a0003c0003t0001g0050	6	86	0.0698	8	c.942 others(27): Show c.942+12334_942+12341dupTTTTTTTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213531359	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03098.hp1 NA18993.hp1 others(1): Show HG02886.hp2 HG03098.hp1 NA18993.hp1 NA19087.hp1	a0003 a0005 a0011 a0003 a0005 a0011	a0003c0003 a0005c0005 a0011c0009 a0003c0003 a0005c0005 a0011c0009	a0003c0003t0001 a0005c0005t0001 a0011c0009t0001 a0003c0003t0001 a0005c0005t0001 a0011c0009t0001	a0003c0003t0001g0028 a0005c0005t0001g0005 a0005c0005t0001g0081 others(1): Show a0003c0003t0001g0028 a0005c0005t0001g0005 a0005c0005t0001g0081 a0011c0009t0001g0085	4	86	0.0465	8	c.107 others(29): Show c.1070+41300_1070+41307dupGTGTGTGT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213667933	C C	CTATTTAT others(1): Show CTATTTATT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02922.hp1 NA19030.hp1 others(1): Show HG02015.hp1 HG02922.hp1 NA19030.hp1 NA19087.hp1	a0006 a0007 a0009 others(1): Show a0006 a0007 a0009 a0011	a0006c0006 a0007c0007 a0009c0008 others(1): Show a0006c0006 a0007c0007 a0009c0008 a0011c0009	a0006c0006t0001 a0007c0007t0001 a0009c0008t0001 others(1): Show a0006c0006t0001 a0007c0007t0001 a0009c0008t0001 a0011c0009t0001	a0006c0006t0001g0082 a0007c0007t0001g0083 a0009c0008t0001g0084 others(1): Show a0006c0006t0001g0082 a0007c0007t0001g0083 a0009c0008t0001g0084 a0011c0009t0001g0085	4	86	0.0465	8	c.107 others(31): Show c.1070+177865_1070+177872dupATTTATTT	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(1): Show GTCTATCTA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02109.hp1 HG02293.hp1 others(11): Show HG02015.hp1 HG02109.hp1 HG02293.hp1 HG02647.hp1 HG02886.hp1 HG03195.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03490.hp1 NA18522.hp2 NA18968.hp1 NA18977.hp1 NA18992.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0003c0003t0003 a0007c0007t0001	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0036 others(11): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0001g0066 a0001c0001t0002g0006 a0001c0001t0002g0009 a0002c0002t0001g0003 a0002c0002t0001g0011 a0002c0002t0001g0077 a0003c0003t0001g0043 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0003g0019 a0007c0007t0001g0083	14	86	0.1628	8	c.107 others(31): Show c.1071-147224_1071-147217dupTATCTATC	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213715222	G G	GTCTGTCT others(1): Show GTCTGTCTA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02976.hp2 HG03130.hp2 others(3): Show HG01496.hp2 HG02976.hp2 HG03130.hp2 NA19030.hp2 NA19043.hp1 NA20129.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0010	a0001c0001 a0002c0002 a0006c0006 others(1): Show a0001c0001 a0002c0002 a0006c0006 a0010c0011	a0001c0001t0001 a0002c0002t0001 a0006c0006t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0006c0006t0001 a0010c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0078 a0001c0001t0001g0079 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0078 a0001c0001t0001g0079 a0002c0002t0001g0053 a0006c0006t0001g0024 a0010c0011t0001g0086	6	86	0.0698	8	c.107 others(31): Show c.1071-147260_1071-147259insGTCTATCT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213715266	A A	ATCTATCT others(1): Show ATCTATCTG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01496.hp1 NA18977.hp2 others(2): Show HG01256.hp1 HG01496.hp1 NA18977.hp2 NA19086.hp1 NA19087.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0011c0009	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0011c0009t0001	a0001c0001t0001g0061 a0002c0002t0001g0076 a0003c0003t0001g0029 others(2): Show a0001c0001t0001g0061 a0002c0002t0001g0076 a0003c0003t0001g0029 a0003c0003t0001g0055 a0011c0009t0001g0085	5	86	0.0581	8	c.107 others(31): Show c.1071-147217_1071-147216insTATCTGTC	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213767655	T T	TCACACAC others(1): Show TCACACACA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03098.hp2 HG03225.hp1 others(1): Show HG02109.hp1 HG03098.hp2 HG03225.hp1 NA19030.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0006c0006 a0001c0001 a0003c0003 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0003c0003t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0003 a0006c0006t0001	a0001c0001t0001g0039 a0001c0001t0002g0072 a0003c0003t0003g0019 others(1): Show a0001c0001t0001g0039 a0001c0001t0002g0072 a0003c0003t0003g0019 a0006c0006t0001g0082	4	86	0.0465	8	c.107 others(29): Show c.1071-94813_1071-94806dupCACACACA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213802395	C C	CTCTATCT others(1): Show CTCTATCTA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02615.hp1 HG02895.hp1 others(5): Show HG01496.hp1 HG02615.hp1 HG02895.hp1 HG03130.hp1 HG03209.hp1 HG03490.hp2 HG03831.hp1 NA18968.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0008	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0005c0005t0001 a0008c0010t0001	a0001c0001t0001g0070 a0001c0001t0002g0067 a0002c0002t0001g0075 others(5): Show a0001c0001t0001g0070 a0001c0001t0002g0067 a0002c0002t0001g0075 a0003c0003t0001g0029 a0003c0003t0001g0050 a0003c0003t0001g0060 a0005c0005t0001g0017 a0008c0010t0001g0004	8	86	0.0930	8	c.107 others(29): Show c.1071-60045_1071-60038dupTCTATCTA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213833494	A A	ATATATTA others(1): Show ATATATTAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01256.hp2 HG01361.hp2 others(3): Show HG00735.hp2 HG01256.hp2 HG01361.hp2 HG03490.hp1 HG03831.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0030 others(3): Show a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069	6	86	0.0698	8	c.107 others(29): Show c.1071-28991_1071-28990insTATATTAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	213833531	T T	TATTATAT others(1): Show TATTATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03239.hp1 NA19086.hp2 HG01891.hp2 HG03239.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0040	3	86	0.0349	8	c.107 others(29): Show c.1071-28954_1071-28953insATTATATA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	213867923	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG02922.hp1 others(2): Show HG02615.hp1 HG02647.hp1 HG02922.hp1 NA18522.hp1 NA18977.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0008 a0001c0001 a0002c0002 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0009c0008t0001	a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0002g0067 others(2): Show a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0002g0067 a0002c0002t0002g0074 a0009c0008t0001g0084	5	86	0.0581	8	c.121 others(27): Show c.1214+5297_1214+5298insAAAAAAAA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213896592	G G	GCACACAC others(1): Show GCACACACA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02976.hp1 HG06807.hp2 others(1): Show HG02015.hp1 HG02976.hp1 HG06807.hp2 NA20129.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0007 a0001c0001 a0002c0002 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0007c0007t0001	a0001c0001t0001g0002 a0001c0001t0002g0001 a0002c0002t0001g0051 others(1): Show a0001c0001t0001g0002 a0001c0001t0002g0001 a0002c0002t0001g0051 a0007c0007t0001g0083	4	86	0.0465	8	c.121 others(29): Show c.1215-33351_1215-33344dupCACACACA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213896592	G G	GCGCACAC others(1): Show GCGCACACA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01516.hp2 HG02886.hp1 others(1): Show HG01256.hp1 HG01516.hp2 HG02886.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0075 a0002c0002t0001g0076 others(1): Show a0002c0002t0001g0058 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077	4	86	0.0465	8	c.121 others(29): Show c.1215-33367_1215-33366insGCACACAC	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213932949	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01516.hp1 HG02293.hp2 others(6): Show HG01361.hp1 HG01516.hp1 HG02293.hp2 HG02976.hp2 HG03195.hp1 NA18968.hp1 NA18993.hp1 NA19086.hp1 NA19087.hp1	a0003 a0010 a0011 a0003 a0010 a0011	a0003c0003 a0010c0011 a0011c0009 a0003c0003 a0010c0011 a0011c0009	a0003c0003t0001 a0010c0011t0001 a0011c0009t0001 a0003c0003t0001 a0010c0011t0001 a0011c0009t0001	a0003c0003t0001g0026 a0003c0003t0001g0028 a0003c0003t0001g0031 others(6): Show a0003c0003t0001g0026 a0003c0003t0001g0028 a0003c0003t0001g0031 a0003c0003t0001g0038 a0003c0003t0001g0041 a0003c0003t0001g0047 a0003c0003t0001g0055 a0010c0011t0001g0086 a0011c0009t0001g0085	9	86	0.1047	8	c.140 others(27): Show c.1400+2839_1400+2846dupACACACAC	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213976135	T T	TATATACA others(1): Show TATATACAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02895.hp1 HG03130.hp2 HG02615.hp2 HG02895.hp1 HG03130.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0010 a0001c0001 a0002c0002 a0008c0010	a0001c0001t0001 a0002c0002t0002 a0008c0010t0001 a0001c0001t0001 a0002c0002t0002 a0008c0010t0001	a0001c0001t0001g0079 a0002c0002t0002g0052 a0008c0010t0001g0004 a0001c0001t0001g0079 a0002c0002t0002g0052 a0008c0010t0001g0004	3	86	0.0349	8	c.140 others(29): Show c.1401-37815_1401-37814insTATACACA	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(1): Show TATATATAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp2 NA19043.hp1 HG02886.hp2 HG02895.hp2 NA19043.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0005c0005 a0006c0006 a0001c0001 a0005c0005 a0006c0006	a0001c0001t0001 a0005c0005t0001 a0006c0006t0001 a0001c0001t0001 a0005c0005t0001 a0006c0006t0001	a0001c0001t0001g0037 a0005c0005t0001g0081 a0006c0006t0001g0024 a0001c0001t0001g0037 a0005c0005t0001g0081 a0006c0006t0001g0024	3	86	0.0349	8	c.140 others(29): Show c.1401-37815_1401-37814insTATATACA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213980725	T T	TATAGAGA others(1): Show TATAGAGAG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01496.hp1 HG00673.hp2 HG01496.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0029 a0003c0003t0001g0062 a0003c0003t0001g0029 a0003c0003t0001g0062	2	86	0.0233	8	c.140 others(29): Show c.1401-33225_1401-33224insTAGAGAGA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213980725	T T	TATATAGA others(1): Show TATATAGAG	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA19090.hp2 NA18968.hp1 NA19090.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0032 a0003c0003t0001g0047 a0003c0003t0001g0032 a0003c0003t0001g0047	2	86	0.0233	8	c.140 others(29): Show c.1401-33225_1401-33224insTATAGAGA	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(1): Show TATATATAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03239.hp1 NA18977.hp1 others(2): Show HG03098.hp1 HG03239.hp1 NA18977.hp1 NA18993.hp1 NA19087.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0011	a0001c0001 a0003c0003 a0005c0005 others(1): Show a0001c0001 a0003c0003 a0005c0005 a0011c0009	a0001c0001t0001 a0003c0003t0001 a0005c0005t0001 others(1): Show a0001c0001t0001 a0003c0003t0001 a0005c0005t0001 a0011c0009t0001	a0001c0001t0001g0013 a0003c0003t0001g0028 a0003c0003t0001g0046 others(2): Show a0001c0001t0001g0013 a0003c0003t0001g0028 a0003c0003t0001g0046 a0005c0005t0001g0005 a0011c0009t0001g0085	5	86	0.0581	8	c.140 others(29): Show c.1401-33225_1401-33224insTATATAGA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213982610	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02922.hp2 HG03098.hp2 others(7): Show HG01361.hp2 HG02922.hp2 HG03098.hp2 NA18522.hp1 NA18977.hp2 NA18993.hp1 NA19030.hp1 NA19087.hp1 NA19087.hp2 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0011	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0006c0006 a0011c0009	a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 others(3): Show a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0006c0006t0001 a0011c0009t0001	a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0061 others(7): Show a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0069 a0002c0002t0002g0074 a0003c0003t0001g0028 a0003c0003t0002g0042 a0006c0006t0001g0082 a0011c0009t0001g0085	10	86	0.1163	8	c.140 others(29): Show c.1401-31309_1401-31302dupTGTGTGTG	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213991859	G G	GTTTATTT others(1): Show GTTTATTTA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00735.hp2 HG01256.hp1 others(38): Show HG00673.hp2 HG00735.hp2 HG01256.hp1 HG01256.hp2 HG01361.hp2 HG01516.hp1 HG02293.hp1 HG02293.hp2 HG02559.hp1 HG02615.hp1 HG02647.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18968.hp1 NA18977.hp1 NA18977.hp2 NA18992.hp1 NA18993.hp1 NA19030.hp2 NA19043.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA20300.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0010 a0011	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0006c0006 a0010c0011 a0011c0009	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0005c0005t0001 a0006c0006t0001 a0010c0011t0001 a0011c0009t0001	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0025 others(38): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0067 a0002c0002t0001g0003 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0076 a0002c0002t0002g0073 a0002c0002t0002g0074 a0003c0003t0001g0028 a0003c0003t0001g0031 a0003c0003t0001g0032 a0003c0003t0001g0038 a0003c0003t0001g0043 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0050 a0003c0003t0001g0060 a0003c0003t0001g0062 a0003c0003t0002g0042 a0005c0005t0001g0081 a0006c0006t0001g0024 a0010c0011t0001g0086 a0011c0009t0001g0085	41	86	0.4767	8	c.140 others(29): Show c.1401-22065_1401-22058dupTATTTATT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214059186	C C	CTATATAT others(1): Show CTATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp2 HG03831.hp1 HG03831.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0030 a0003c0003t0001g0050 a0001c0001t0001g0030 a0003c0003t0001g0050	2	86	0.0233	8	c.152 others(29): Show c.1527+45131_1527+45138dupATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214059222	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA19030.hp1 NA18993.hp1 NA19030.hp1	a0003 a0006 a0003 a0006	a0003c0003 a0006c0006 a0003c0003 a0006c0006	a0003c0003t0001 a0006c0006t0001 a0003c0003t0001 a0006c0006t0001	a0003c0003t0001g0028 a0006c0006t0001g0082 a0003c0003t0001g0028 a0006c0006t0001g0082	2	86	0.0233	8	c.152 others(29): Show c.1527+45157_1527+45164dupATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214061981	G G	GCACACAC others(1): Show GCACACACA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03209.hp1 HG03130.hp2 HG03209.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0079 a0005c0005t0001g0017 a0001c0001t0001g0079 a0005c0005t0001g0017	2	86	0.0233	8	c.152 others(29): Show c.1528-46183_1528-46176dupACACACAC	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214062020	C C	CACACACA others(1): Show CACACACAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03471.hp1 HG03225.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0006 a0001c0001t0002g0007	2	86	0.0233	8	c.152 others(29): Show c.1528-46176_1528-46175insACACACAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	13/15			chr2	TogoVar
SPAG16_chr2_213279464_214415501	214076545	G G	GTGTGTGT others(1): Show GTGTGTGTC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA19030.hp2 NA18992.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0078 a0003c0003t0001g0043 a0001c0001t0001g0078 a0003c0003t0001g0043	2	86	0.0233	8	c.152 others(29): Show c.1528-31644_1528-31643insCTGTGTGT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214149075	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03239.hp2 HG00735.hp1 HG03239.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0048 a0002c0002t0001g0054 a0001c0001t0001g0048 a0002c0002t0001g0054	2	86	0.0233	8	c.159 others(23): Show c.1594-64_1594-63insATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214149090	T T	TATATATA others(1): Show TATATATAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19043.hp1 HG02717.hp1 NA19043.hp1	a0003 a0006 a0003 a0006	a0003c0003 a0006c0006 a0003c0003 a0006c0006	a0003c0003t0001 a0006c0006t0001 a0003c0003t0001 a0006c0006t0001	a0003c0003t0001g0080 a0006c0006t0001g0024 a0003c0003t0001g0080 a0006c0006t0001g0024	2	86	0.0233	8	c.159 others(23): Show c.1594-46_1594-39dupTATACATA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214177910	T T	TATATATA others(1): Show TATATATAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02015.hp2 NA18977.hp1 others(3): Show HG00735.hp1 HG02015.hp2 NA18977.hp1 NA19030.hp1 NA19087.hp2 NA19090.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0006c0006	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0006c0006t0001	a0001c0001t0001g0025 a0002c0002t0001g0054 a0002c0002t0001g0059 others(3): Show a0001c0001t0001g0025 a0002c0002t0001g0054 a0002c0002t0001g0059 a0002c0002t0001g0064 a0003c0003t0001g0046 a0006c0006t0001g0082	6	86	0.0698	8	c.172 others(29): Show c.1720+28649_1720+28650insTACATATA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214177916	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02717.hp1 HG02895.hp2 others(12): Show HG02293.hp2 HG02717.hp1 HG02895.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03471.hp2 HG03579.hp1 NA18968.hp2 NA18977.hp2 NA18992.hp1 NA19000.hp1 NA19030.hp2 NA19043.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0006c0006	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0006c0006t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(12): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0079 a0002c0002t0001g0057 a0002c0002t0001g0075 a0003c0003t0001g0031 a0003c0003t0001g0043 a0003c0003t0001g0080 a0006c0006t0001g0024	15	86	0.1744	8	c.172 others(29): Show c.1720+28661_1720+28668dupATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214177971	G G	GTGTGTAT others(1): Show GTGTGTATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03209.hp1 HG02895.hp2 HG03209.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0037 a0005c0005t0001g0017 a0001c0001t0001g0037 a0005c0005t0001g0017	2	86	0.0233	8	c.172 others(29): Show c.1720+28706_1720+28707insGTGTATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214195303	T T	TGATAGAT others(1): Show TGATAGATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA18993.hp2 HG02647.hp1 NA18993.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0066 a0002c0002t0001g0063 a0001c0001t0001g0066 a0002c0002t0001g0063	2	86	0.0233	8	c.172 others(29): Show c.1720+46062_1720+46069dupGATAGATA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214214185	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02109.hp2 HG02293.hp2 others(14): Show HG00673.hp2 HG02109.hp2 HG02293.hp2 HG02717.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03239.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp2 NA18968.hp2 NA18977.hp2 NA19030.hp2 NA19043.hp2 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0005c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0044 a0002c0002t0001g0010 a0002c0002t0001g0018 a0002c0002t0002g0073 a0003c0003t0001g0031 a0003c0003t0001g0041 a0003c0003t0001g0062 a0005c0005t0001g0005	17	86	0.1977	8	c.172 others(29): Show c.1720+64925_1720+64932dupTTTTTTTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214258471	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01496.hp1 HG02015.hp2 others(8): Show HG00673.hp2 HG01496.hp1 HG02015.hp2 HG02559.hp1 HG03098.hp1 HG03831.hp2 NA18977.hp1 NA18993.hp2 NA19000.hp1 NA19087.hp2 NA19090.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0005c0005t0001	a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0002g0008 others(8): Show a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0002g0008 a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0002t0001g0063 a0002c0002t0001g0064 a0003c0003t0001g0029 a0003c0003t0001g0046 a0003c0003t0001g0062 a0005c0005t0001g0005	11	86	0.1279	8	c.172 others(31): Show c.1720+109218_1720+109225dupTATATATA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar

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