Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPATA17_chr1_217626344_217876696	217727247	C C	CAAAAATA others(8): Show CAAAAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0035 a0001c0001t0011g0035	1	89	0.0112	15	c.396 others(34): Show c.396-14726_396-14725insAAATAATAATAATAA	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217786749	C C	CCTTCTTC others(8): Show CCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0118	1	248	0.0040	15	c.872 others(32): Show c.872+4427_872+4428insCTTCTTCTTCTTCTT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	8/10			chr1	TogoVar
SPATA17_chr1_217626344_217876696	217786750	T T	TTTCTTCC others(8): Show TTTCTTCCTCTTCTTC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0029 a0001c0003t0029	a0001c0003t0029g0063 a0001c0003t0029g0063	1	36	0.0278	15	c.872 others(32): Show c.872+4434_872+4435insCTCTTCTTCTTCTTC	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA17_chr1_217626344_217876696	217786750	T T	TTTCTTCT others(8): Show TTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG01070.hp1 others(19): Show HG00099.hp1 HG00733.hp1 HG01070.hp1 HG01123.hp1 HG01261.hp2 HG01361.hp1 HG02165.hp1 HG02258.hp1 HG02486.hp1 HG02717.hp1 HG02738.hp1 HG02896.hp1 HG03239.hp2 HG03704.hp1 NA18612.hp1 NA18946.hp1 NA18960.hp1 NA18968.hp1 NA18984.hp1 NA19003.hp2 NA19005.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0001c0002t0014 a0001c0002t0021 a0001c0002t0054 a0001c0003t0001 a0001c0003t0003 a0001c0004t0027 a0001c0009t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0044 others(19): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0044 a0001c0001t0001g0065 a0001c0001t0002g0006 a0001c0001t0002g0028 a0001c0001t0002g0038 a0001c0001t0008g0123 a0001c0002t0001g0112 a0001c0002t0001g0131 a0001c0002t0001g0149 a0001c0002t0014g0102 a0001c0002t0021g0157 a0001c0002t0054g0050 a0001c0003t0001g0231 a0001c0003t0003g0098 a0001c0003t0003g0223 a0001c0003t0003g0224 a0001c0003t0003g0228 a0001c0003t0003g0229 a0001c0004t0027g0237 a0001c0009t0001g0178	22	57	0.3860	15	c.872 others(32): Show c.872+4477_872+4491dupTTCTTCTTCTTCTTC	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA18_chr4_52046304_52102299	52061487	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01993.hp1 HG02258.hp1 others(8): Show HG01978.hp1 HG01993.hp1 HG02258.hp1 HG02559.hp1 HG02647.hp2 HG03471.hp2 HG03490.hp2 HG03710.hp1 NA18959.hp2 NA20129.hp2 NA20752.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0008 a0001c0001 a0002c0002 a0008c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0002c0002t0001 a0008c0008t0014	a0001c0001t0002g0143 a0001c0001t0003g0037 a0001c0001t0003g0144 others(8): Show a0001c0001t0002g0143 a0001c0001t0003g0037 a0001c0001t0003g0144 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0155 a0001c0001t0012g0145 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0209 a0008c0008t0014g0036	11	23	0.4783	15	c.309 others(30): Show c.309+611_309+625dupTAATAATAATAATAA	SPATA18	ENSG00000163071.11	transcript	ENST00000295213.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA20_chr17_50542174_50560852	50558601	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTTTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	332	0.0030	15	c.29 others(26): Show c.2939_*2940insTTTTTTTTTTTTTAA	SPATA20	ENSG00000006282.22	transcript	ENST00000006658.11	protein_coding		2750		chr17	TogoVar
SPATA22_chr17_3435019_3476819	3435327	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG04228.hp1 NA18988.hp2 HG03516.hp2 HG04228.hp1 NA18988.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0010 a0001c0001 a0009c0010	a0001c0001t0001 a0009c0010t0001 a0001c0001t0001 a0009c0010t0001	a0001c0001t0001g0012 a0001c0001t0001g0071 a0009c0010t0001g0083 a0001c0001t0001g0012 a0001c0001t0001g0071 a0009c0010t0001g0083	3	40	0.0750	15	c.48 others(26): Show c.4819_*4820insAAAAAAAAAAAAAAA	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding		4691		chr17	TogoVar
SPATA22_chr17_3435019_3476819	3458855	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00673.hp2 others(12): Show HG00140.hp1 HG00423.hp2 HG00673.hp2 HG01074.hp1 HG01099.hp1 HG02074.hp1 HG02109.hp2 NA18943.hp2 NA18952.hp2 NA18970.hp1 NA18995.hp2 NA19000.hp2 NA19009.hp2 NA19011.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0001g0130 a0001c0001t0001g0141 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0130 a0001c0001t0001g0141 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0002g0291 a0001c0001t0003g0131	15	130	0.1154	15	c.329 others(32): Show c.329+3613_329+3627dupTTTTTTTTTTTTTTT	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	5/8			chr17	TogoVar
SPATA31A6_chr9_42178659_42194887	42184503	G G	GTTATTTT others(8): Show GTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA19030.hp1 HG03041.hp1 NA19030.hp1	a0007 a0012 a0007 a0012	a0007c0006 a0012c0015 a0007c0006 a0012c0015	a0007c0006t0003 a0012c0015t0002 a0007c0006t0003 a0012c0015t0002	a0007c0006t0003g0043 a0012c0015t0002g0033 a0007c0006t0003g0043 a0012c0015t0002g0033	2	52	0.0385	15	c.190 others(30): Show c.190-538_190-524dupATTTTATTTTATTTT	SPATA31A6	ENSG00000185775.10	transcript	ENST00000332857.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA31C1_chr9_87912962_87928657	87919048	G G	GCGTGAGC others(8): Show GCGTGAGCCACCGCAC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0008 a0003c0004t0001g0008	1	386	0.0026	15	c.190 others(30): Show c.190-205_190-191dupGTGAGCCACCGCACC	SPATA31C1	ENSG00000230246.9	transcript	ENST00000706933.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA31D3_chr9_81938500_81955093	81945273	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	64	0.0156	15	c.293 others(28): Show c.293+71_293+85dupTTTTTTTTTTTTTTT	SPATA31D3	ENSG00000186788.14	transcript	ENST00000445385.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA31D4_chr9_81923428_81939998	81930201	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03041.hp1 HG03225.hp2 HG02818.hp2 HG03041.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0078 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0078	3	39	0.0769	15	c.293 others(28): Show c.293+51_293+65dupTTTTTTTTTTTTTTT	SPATA31D4	ENSG00000189357.9	transcript	ENST00000419782.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA33_chr16_89652836_89675458	89674496	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0079 a0001c0001t0017g0079	1	31	0.0323	15	c.49 others(26): Show c.4999_*5000insTTTTTTTTTTTTTTT	SPATA33	ENSG00000167523.15	transcript	ENST00000579310.6	protein_coding		4039		chr16	TogoVar
SPATA48_chr7_50090883_50164256	50141727	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0077	1	58	0.0172	15	c.108 others(32): Show c.1085+345_1085+359dupTTTTTTTTTTTTTTT	SPATA48	ENSG00000164500.7	transcript	ENST00000297001.7	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPATA5_chr4_122918078_123324433	122921611	A A	AAAAAAAC others(8): Show AAAAAAACAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02896.hp1 HG02897.hp1 others(1): Show HG02145.hp1 HG02896.hp1 HG02897.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0010 a0002c0002t0013 a0002c0002t0003 a0002c0002t0010 a0002c0002t0013	a0002c0002t0003g0152 a0002c0002t0010g0150 a0002c0002t0010g0151 others(1): Show a0002c0002t0003g0152 a0002c0002t0010g0150 a0002c0002t0010g0151 a0002c0002t0013g0129	4	260	0.0154	15	c.-15 others(26): Show c.-1532_-1531insAAAAAACAAACAAAC	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding		1466		chr4	TogoVar
SPATA5_chr4_122918078_123324433	123007606	G G	GGTGTGTG others(8): Show GGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	255	0.0039	15	c.187 others(36): Show c.1870-20580_1870-20579insGTGTGTGTGTGTATA	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15			chr4	TogoVar
SPATA5_chr4_122918078_123324433	123059135	T T	TTTTTATT others(8): Show TTTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG00642.hp1 others(56): Show HG00408.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01192.hp1 HG01243.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02258.hp2 HG02622.hp2 HG02717.hp2 HG02970.hp2 HG03017.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03490.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG04115.hp2 NA18940.hp2 NA18945.hp1 NA18950.hp1 NA18954.hp2 NA18957.hp1 NA18961.hp2 NA18965.hp1 NA18968.hp2 NA18971.hp2 NA18983.hp1 NA18992.hp2 NA19000.hp2 NA19011.hp1 NA19012.hp1 NA19060.hp2 NA19070.hp2 NA19084.hp2 NA19087.hp1 NA19090.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0017 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0049 a0001c0001t0057 a0001c0001t0061 a0001c0004t0002 a0001c0004t0011 a0001c0004t0030 a0001c0004t0031	a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0001t0001g0110 others(56): Show a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0238 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0002g0072 a0001c0001t0002g0235 a0001c0001t0003g0182 a0001c0001t0003g0221 a0001c0001t0003g0249 a0001c0001t0004g0196 a0001c0001t0007g0177 a0001c0001t0007g0198 a0001c0001t0007g0259 a0001c0001t0017g0184 a0001c0001t0036g0153 a0001c0001t0037g0154 a0001c0001t0039g0248 a0001c0001t0040g0109 a0001c0001t0044g0215 a0001c0001t0045g0183 a0001c0001t0046g0225 a0001c0001t0049g0190 a0001c0001t0057g0226 a0001c0001t0061g0237 a0001c0004t0002g0145 a0001c0004t0011g0148 a0001c0004t0030g0147 a0001c0004t0031g0146	59	122	0.4836	15	c.221 others(34): Show c.2213+1860_2213+1874dupTTATTTTATTTTATT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123118316	A A	ATATATTA others(8): Show ATATATTATATATAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp1 others(202): Show HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0004 a0001c0005 others(7): Show a0001c0001 a0001c0004 a0001c0005 a0002c0002 a0003c0003 a0004c0006 a0005c0008 a0006c0007 a0007c0011 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(64): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0064 a0001c0001t0067 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0004t0002 a0001c0004t0011 a0001c0004t0013 a0001c0004t0030 a0001c0004t0031 a0001c0004t0068 a0001c0005t0002 a0002c0002t0016 a0002c0002t0017 a0002c0002t0032 a0002c0002t0052 a0003c0003t0001 a0003c0003t0005 a0003c0003t0041 a0004c0006t0053 a0004c0006t0055 a0005c0008t0015 a0005c0008t0029 a0006c0007t0063 a0006c0007t0065 a0007c0011t0002 a0008c0010t0002	a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0050 others(202): Show a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0230 a0001c0001t0002g0235 a0001c0001t0002g0255 a0001c0001t0003g0066 a0001c0001t0003g0097 a0001c0001t0003g0101 a0001c0001t0003g0182 a0001c0001t0003g0221 a0001c0001t0003g0232 a0001c0001t0003g0249 a0001c0001t0004g0102 a0001c0001t0004g0170 a0001c0001t0004g0196 a0001c0001t0004g0228 a0001c0001t0004g0239 a0001c0001t0005g0027 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0005g0070 a0001c0001t0006g0003 a0001c0001t0006g0240 a0001c0001t0007g0177 a0001c0001t0007g0198 a0001c0001t0007g0259 a0001c0001t0008g0017 a0001c0001t0008g0091 a0001c0001t0008g0092 a0001c0001t0009g0093 a0001c0001t0009g0094 a0001c0001t0009g0095 a0001c0001t0011g0178 a0001c0001t0012g0241 a0001c0001t0012g0244 a0001c0001t0012g0246 a0001c0001t0013g0071 a0001c0001t0017g0184 a0001c0001t0018g0001 a0001c0001t0018g0002 a0001c0001t0019g0051 a0001c0001t0019g0210 a0001c0001t0020g0179 a0001c0001t0020g0180 a0001c0001t0023g0028 a0001c0001t0023g0047 a0001c0001t0024g0067 a0001c0001t0024g0069 a0001c0001t0026g0106 a0001c0001t0027g0024 a0001c0001t0033g0262 a0001c0001t0034g0261 a0001c0001t0036g0153 a0001c0001t0037g0154 a0001c0001t0039g0248 a0001c0001t0040g0109 a0001c0001t0042g0172 a0001c0001t0043g0236 a0001c0001t0044g0215 a0001c0001t0045g0183 a0001c0001t0046g0225 a0001c0001t0049g0190 a0001c0001t0050g0174 a0001c0001t0051g0245 a0001c0001t0057g0226 a0001c0001t0059g0081 a0001c0001t0060g0046 a0001c0001t0061g0237 a0001c0001t0062g0052 a0001c0001t0064g0063 a0001c0001t0067g0055 a0001c0001t0071g0044 a0001c0001t0072g0019 a0001c0001t0073g0076 a0001c0001t0074g0260 a0001c0004t0002g0142 a0001c0004t0002g0145 a0001c0004t0011g0148 a0001c0004t0013g0144 a0001c0004t0030g0147 a0001c0004t0031g0146 a0001c0004t0068g0143 a0001c0005t0002g0058 a0001c0005t0002g0073 a0001c0005t0002g0074 a0001c0005t0002g0075 a0002c0002t0016g0158 a0002c0002t0016g0165 a0002c0002t0017g0156 a0002c0002t0032g0159 a0002c0002t0052g0155 a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0005g0005 a0003c0003t0041g0006 a0004c0006t0053g0004 a0004c0006t0055g0014 a0005c0008t0015g0243 a0005c0008t0029g0242 a0006c0007t0063g0256 a0006c0007t0065g0254 a0007c0011t0002g0018 a0008c0010t0002g0035	205	238	0.8613	15	c.234 others(36): Show c.2340+27612_2340+27626dupTATATTATATATAAT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123118322	T T	TATATATA others(8): Show TATATATAATTATATC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	260	0.0038	15	c.234 others(36): Show c.2340+27626_2340+27627insTATATCATATATAAT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA6L_chr9_4593316_4671480	4648714	T T	TAAATAAA others(8): Show TAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG00621.hp1 others(84): Show HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01346.hp2 HG01433.hp2 HG01884.hp2 HG01981.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02109.hp2 HG02129.hp2 HG02148.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02572.hp2 HG02622.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG04184.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18955.hp1 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18979.hp1 NA18979.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp2 NA19009.hp1 NA19043.hp1 NA19060.hp2 NA19063.hp1 NA19066.hp2 NA19067.hp2 NA19081.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0012 a0013	a0001c0001 a0001c0004 a0001c0006 others(7): Show a0001c0001 a0001c0004 a0001c0006 a0001c0008 a0002c0002 a0002c0005 a0003c0003 a0004c0007 a0012c0014 a0013c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0047 a0001c0004t0022 a0001c0006t0048 a0001c0008t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0002t0009 a0002c0002t0017 a0002c0002t0056 a0002c0002t0060 a0002c0005t0005 a0002c0005t0010 a0002c0005t0031 a0003c0003t0002 a0004c0007t0004 a0012c0014t0015 a0013c0012t0005	a0001c0001t0001g0003 a0001c0001t0001g0042 a0001c0001t0001g0077 others(81): Show a0001c0001t0001g0003 a0001c0001t0001g0042 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0102 a0001c0001t0001g0134 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0219 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0334 a0001c0001t0002g0080 a0001c0001t0002g0248 a0001c0001t0004g0013 a0001c0001t0008g0064 a0001c0001t0010g0126 a0001c0001t0010g0144 a0001c0001t0011g0108 a0001c0001t0013g0104 a0001c0001t0014g0076 a0001c0001t0014g0170 a0001c0001t0014g0171 a0001c0001t0015g0140 a0001c0001t0015g0236 a0001c0001t0015g0239 a0001c0001t0016g0369 a0001c0001t0016g0385 a0001c0001t0016g0388 a0001c0001t0016g0390 a0001c0001t0016g0397 a0001c0001t0017g0387 a0001c0001t0017g0398 a0001c0001t0018g0335 a0001c0001t0019g0153 a0001c0001t0047g0232 a0001c0004t0022g0158 a0001c0006t0048g0095 a0001c0008t0002g0269 a0001c0008t0002g0270 a0002c0002t0001g0207 a0002c0002t0003g0006 a0002c0002t0003g0021 a0002c0002t0003g0028 a0002c0002t0003g0057 a0002c0002t0003g0190 a0002c0002t0003g0201 a0002c0002t0003g0209 a0002c0002t0003g0210 a0002c0002t0003g0252 a0002c0002t0003g0253 a0002c0002t0003g0256 a0002c0002t0003g0258 a0002c0002t0003g0259 a0002c0002t0003g0261 a0002c0002t0003g0320 a0002c0002t0007g0364 a0002c0002t0007g0368 a0002c0002t0007g0374 a0002c0002t0007g0393 a0002c0002t0007g0396 a0002c0002t0009g0010 a0002c0002t0009g0349 a0002c0002t0009g0362 a0002c0002t0009g0363 a0002c0002t0009g0366 a0002c0002t0009g0367 a0002c0002t0009g0371 a0002c0002t0009g0372 a0002c0002t0009g0386 a0002c0002t0017g0361 a0002c0002t0056g0342 a0002c0002t0060g0365 a0002c0005t0005g0103 a0002c0005t0010g0098 a0002c0005t0010g0100 a0002c0005t0010g0160 a0002c0005t0010g0193 a0002c0005t0010g0229 a0002c0005t0031g0148 a0003c0003t0002g0198 a0004c0007t0004g0257 a0012c0014t0015g0230 a0013c0012t0005g0159	87	214	0.4065	15	c.226 others(32): Show c.226+7326_226+7327insTTTATTTATTTATTT	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	3/11			chr9	TogoVar
SPATA6_chr1_48290373_48477204	48299516	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp2 HG01256.hp1 others(3): Show HG00280.hp2 HG00741.hp2 HG01256.hp1 HG02683.hp2 HG03239.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0005 a0002c0002t0027 a0001c0001t0006 a0002c0002t0005 a0002c0002t0027	a0001c0001t0006g0144 a0001c0001t0006g0166 a0001c0001t0006g0234 others(3): Show a0001c0001t0006g0144 a0001c0001t0006g0166 a0001c0001t0006g0234 a0002c0002t0005g0072 a0002c0002t0005g0084 a0002c0002t0027g0062	6	15	0.4000	15	c.128 others(32): Show c.1287-638_1287-624dupTTTTTTTTTTTTTTT	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	12/12			chr1	TogoVar
SPATC1L_chr21_46156160_46189459	46157289	T T	TGCCTCAG others(8): Show TGCCTCAGCCTCCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	250	0.0040	15	c.40 others(26): Show c.4089_*4090insTCTGGAGGCTGAGGC	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		3870		chr21	TogoVar
SPATS1_chr6_44337650_44385179	44341313	T T	TCTATCTA others(8): Show TCTATCTATCTATCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0001 a0002c0002t0003g0001	1	357	0.0028	15	c.-14 others(26): Show c.-1456_-1455insCTATCTATCTATCTA	SPATS1	ENSG00000249481.7	transcript	ENST00000674044.1	protein_coding		1336		chr6	TogoVar
SPATS2L_chr2_200301693_200487264	200396011	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	248	0.0040	15	c.39+ others(30): Show c.39+6737_39+6751dupAAAAAAAAAAAAAAA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0269 a0001c0003t0001g0269	1	135	0.0074	15	c.39+ others(30): Show c.39+6751_39+6752insAAAAAAAAAAAAATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0178 a0001c0001t0027g0178	1	135	0.0074	15	c.39+ others(30): Show c.39+6751_39+6752insAAAAAAAAAAATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(8): Show AAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03704.hp2 HG03831.hp2 others(1): Show HG01074.hp2 HG03704.hp2 HG03831.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0227 a0001c0001t0002g0238 a0001c0001t0002g0246 others(1): Show a0001c0001t0002g0227 a0001c0001t0002g0238 a0001c0001t0002g0246 a0001c0001t0014g0050	4	138	0.0290	15	c.39+ others(30): Show c.39+6751_39+6752insAAAAAAAAATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02165.hp1 NA18941.hp1 HG02129.hp2 HG02165.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0007 a0001c0003t0024 a0001c0001t0005 a0001c0001t0007 a0001c0003t0024	a0001c0001t0005g0211 a0001c0001t0007g0218 a0001c0003t0024g0270 a0001c0001t0005g0211 a0001c0001t0007g0218 a0001c0003t0024g0270	3	137	0.0219	15	c.39+ others(30): Show c.39+6751_39+6752insAAAAAAATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19060.hp1 NA18984.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0023 a0001c0001t0003 a0001c0001t0023	a0001c0001t0003g0120 a0001c0001t0023g0273 a0001c0001t0003g0120 a0001c0001t0023g0273	2	136	0.0147	15	c.39+ others(30): Show c.39+6751_39+6752insAAAAATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAATATAT others(8): Show AAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0017 a0003c0006t0017	a0003c0006t0017g0130 a0003c0006t0017g0130	1	135	0.0074	15	c.39+ others(30): Show c.39+6751_39+6752insATATATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200477515	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03579.hp2 NA18955.hp1 others(3): Show HG01257.hp2 HG03579.hp2 NA18955.hp1 NA18956.hp2 NA18981.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0048 a0001c0002t0006 a0001c0002t0016 a0001c0001t0048 a0001c0002t0006 a0001c0002t0016	a0001c0001t0048g0221 a0001c0002t0006g0113 a0001c0002t0006g0114 others(3): Show a0001c0001t0048g0221 a0001c0002t0006g0113 a0001c0002t0006g0114 a0001c0002t0006g0116 a0001c0002t0006g0117 a0001c0002t0016g0281	6	104	0.0577	15	c.128 others(31): Show c.1282-112_1282-98dupAAAAAAAAAAAAAAA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2_chr12_49362462_49532425	49378261	G G	GTTTATTT others(8): Show GTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02809.hp1 HG02922.hp2 others(4): Show HG02257.hp1 HG02809.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03209.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007	a0001c0001t0004g0041 a0001c0001t0005g0022 a0001c0001t0005g0023 others(4): Show a0001c0001t0004g0041 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0007g0034 a0001c0001t0007g0035	7	111	0.0631	15	c.-24 others(34): Show c.-244+7003_-244+7017dupTTATTTTATTTTATT	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPATS2_chr12_49362462_49532425	49442786	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	89	0.0112	15	c.-24 others(36): Show c.-243-17962_-243-17948dupAAAAAAAAAAAAAAA	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPATS2_chr12_49362462_49532425	49498145	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	26	0.0385	15	c.703 others(32): Show c.703+1137_703+1138insAAAAATATATATATA	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPCS2_chr11_74944266_74984033	74955851	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	34	0.0294	15	c.114 others(32): Show c.114+6452_114+6453insTATATATATATATAT	SPCS2	ENSG00000118363.13	transcript	ENST00000263672.11	protein_coding	1/4			chr11	TogoVar
SPDYA_chr2_28805834_28855610	28823745	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	321	0.0031	15	c.380 others(32): Show c.380+1335_380+1336insTATATATATATATAT	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	5/7			chr2	TogoVar
SPDYA_chr2_28805834_28855610	28824545	C C	CTTTCTTT others(8): Show CTTTCTTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00438.hp2 others(158): Show HG00140.hp2 HG00323.hp1 HG00438.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02109.hp1 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18947.hp1 NA18948.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp2 NA18971.hp2 NA18972.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp2 NA18994.hp2 NA19000.hp1 NA19002.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19065.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0001 a0001c0003t0004 a0001c0004t0001 a0001c0006t0003 a0002c0002t0002 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(155): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0324 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0196 a0001c0001t0005g0279 a0001c0003t0001g0021 a0001c0003t0001g0330 a0001c0003t0004g0326 a0001c0003t0004g0327 a0001c0003t0004g0328 a0001c0004t0001g0298 a0001c0006t0003g0256 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0325 a0003c0005t0001g0284	161	336	0.4792	15	c.380 others(32): Show c.380+2139_380+2153dupCTTTCTTTTTTTTTT	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYC_chr11_65165233_65178374	65166391	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA19004.hp1 NA18981.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	106	0.0189	15	c.-39 others(26): Show c.-3902_-3901insTTTTTTTTTTTTTTT	SPDYC	ENSG00000204710.3	transcript	ENST00000377185.3	protein_coding		3841		chr11	TogoVar
SPDYE10_chr7_73099008_73160431	73111754	C C	CTTTTTTT others(8): Show CTTTTTTTTCTTCTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA21309.hp1 HG00639.hp2 NA21309.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0008 a0003c0006t0023 a0003c0006t0008 a0003c0006t0023	a0003c0006t0008g0124 a0003c0006t0023g0134 a0003c0006t0008g0124 a0003c0006t0023g0134	2	86	0.0233	15	c.130 others(30): Show c.130+368_130+369insAAAGAAGAAAAAAAA	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	3/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73123774	T T	TCTCTCTC others(8): Show TCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0180 a0001c0001t0003g0180	1	215	0.0047	15	c.-63 others(34): Show c.-639-8233_-639-8232insGAGAGAGAGAGAGAG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73137639	A A	AAAGAGAA others(8): Show AAAGAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0117 a0001c0002t0001g0117	1	215	0.0047	15	c.-64 others(36): Show c.-640+17683_-640+17684insCTCTTTCTTTCTCTT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73150907	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0012 a0003c0006t0012	a0003c0006t0012g0123 a0003c0006t0012g0123	1	165	0.0061	15	c.-64 others(34): Show c.-640+4415_-640+4416insATATATATATTTTTT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE16_chr7_76526313_76548297	76539081	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTGTTG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02056.hp2 HG02083.hp1 others(6): Show HG00609.hp1 HG02056.hp2 HG02083.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp2 NA18948.hp2 NA18983.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0017 a0002c0004t0005 a0002c0004t0014 a0002c0002t0017 a0002c0004t0005 a0002c0004t0014	a0002c0002t0017g0046 a0002c0004t0005g0014 a0002c0004t0005g0015 others(4): Show a0002c0002t0017g0046 a0002c0004t0005g0014 a0002c0004t0005g0015 a0002c0004t0005g0042 a0002c0004t0005g0043 a0002c0004t0005g0044 a0002c0004t0014g0038	9	186	0.0484	15	c.380 others(30): Show c.380-266_380-265insCAACAAAAAAAAAAA	SPDYE16	ENSG00000185040.14	transcript	ENST00000633306.2	protein_coding	3/8			chr7	TogoVar
SPDYE16_chr7_76526313_76548297	76543886	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02897.hp2 HG02486.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0021 a0002c0002t0017 a0002c0002t0021	a0002c0002t0017g0046 a0002c0002t0021g0047 a0002c0002t0017g0046 a0002c0002t0021g0047	2	250	0.0080	15	c.-11 others(26): Show c.-1133_-1132insTTTTTTTTTTTTTTT	SPDYE16	ENSG00000185040.14	transcript	ENST00000633306.2	protein_coding		590		chr7	TogoVar
SPDYE17_chr7_77017306_77037361	77030080	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG01346.hp1 others(21): Show HG00408.hp2 HG00609.hp1 HG01346.hp1 HG01516.hp1 HG02015.hp2 HG02074.hp2 HG02683.hp1 HG02735.hp2 HG03491.hp2 HG04199.hp1 HG04204.hp1 NA18943.hp2 NA18961.hp1 NA18974.hp1 NA18987.hp1 NA18994.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19070.hp1 NA19077.hp2 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0013 a0002c0002t0002g0081 a0002c0002t0002g0082 others(9): Show a0002c0002t0002g0013 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0089 a0002c0002t0004g0005 a0002c0002t0004g0012 a0002c0002t0004g0053 a0002c0002t0004g0054 a0002c0002t0004g0055 a0002c0002t0004g0056 a0002c0002t0004g0057	24	82	0.2927	15	c.130 others(30): Show c.130+346_130+360dupAAAAAAAAAAAAAAA	SPDYE17	ENSG00000186645.11	transcript	ENST00000671986.3	protein_coding	2/7			chr7	TogoVar
SPDYE1_chr7_43992897_44015124	43994396	A A	AAGAAAGA others(8): Show AAGAAAGAAAGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0004 a0003c0003t0003g0004	1	343	0.0029	15	c.-39 others(26): Show c.-3986_-3985insAGAAAGAAAGAAGAG	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3500		chr7	TogoVar
SPDYE21_chr7_67271941_67294005	67272822	T T	TTCATCTT others(8): Show TTCATCTTGAGTTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0072 a0002c0002t0001g0072	1	458	0.0022	15	c.-46 others(26): Show c.-4663_-4662insTCATCTTGAGTTGGA	SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding		4118		chr7	TogoVar
SPDYE21_chr7_67271941_67294005	67274831	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0010 a0008c0009t0010	a0008c0009t0010g0054 a0008c0009t0010g0054	1	44	0.0227	15	c.-26 others(26): Show c.-2654_-2653insAAAAAAAAAAAAAAA	SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding		2109		chr7	TogoVar
SPDYE21_chr7_67271941_67294005	67286692	C C	CAGAATAT others(8): Show CAGAATATTGGGGTCT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0164 a0003c0003t0002g0164	1	458	0.0022	15	c.45 others(28): Show c.45+30_*45+44dupGAATATTGGGGTCTA	SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE21_chr7_67271941_67294005	67292057	T T	TTTGATAA others(8): Show TTTGATAAGATCTTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0104 a0001c0001t0005g0104	1	458	0.0022	15	c.45 others(26): Show c.4585_*4586insTTGATAAGATCTTAC	SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding		3053		chr7	TogoVar

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