Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SNX6_chr14_34556093_34635148	34556281	CCACATTT others(20): Show CCACATTTGGGGAAATCGCAGGGGTCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	319	0.0031	-27	c.68 others(38): Show c.6814_*6840delCTGACCCCTGCGATTTCCCCAAATGTG		SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding					4811		chr14	TogoVar
SNX6_chr14_34556093_34635148	34557496	ATTCTTCT others(20): Show ATTCTTCTTCTTCTTCTTCTTCTTCTTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00741.hp1 HG01071.hp1 others(43): Show HG00423.hp1 HG00741.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01261.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02074.hp1 HG02145.hp1 HG02717.hp2 HG02818.hp1 HG03017.hp1 HG03139.hp1 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03654.hp2 HG03834.hp1 HG04115.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18950.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19007.hp1 NA19065.hp2 NA19070.hp1 NA19077.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0017 a0001c0001t0001 a0001c0001t0015 a0001c0001t0017	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0077 others(43): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0077 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0198 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0310 a0001c0001t0001g0314 a0001c0001t0015g0266 a0001c0001t0017g0256	46	113	0.4071	-27	c.55 others(38): Show c.5599_*5625delGAAGAAGAAGAAGAAGAAGAAGAAGAA		SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding					3596		chr14	TogoVar
SNX9_chr6_157818246_157950077	157825233	GCGAGACT others(20): Show GCGAGACTCCGTTTGAAAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	300	0.0033	-27	c.12+ others(42): Show c.12+1810_12+1836delAAAGACGAGACTCCGTTTGAAAAAAGA		SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
SOAT1_chr1_179288797_179363680	179344352	GGTTTTTT others(20): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(152): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03540.hp1 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18986.hp1 NA18990.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19082.hp2 NA19088.hp2 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0012 a0003c0009 a0006c0021	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(30): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0018 a0001c0001t0021 a0001c0001t0028 a0001c0001t0032 a0001c0001t0036 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0063 a0001c0001t0074 a0001c0002t0001 a0001c0002t0006 a0001c0002t0023 a0001c0002t0024 a0001c0002t0038 a0001c0002t0039 a0001c0002t0043 a0001c0002t0044 a0001c0002t0047 a0001c0002t0051 a0001c0006t0004 a0001c0006t0031 a0001c0006t0076 a0001c0012t0006 a0001c0012t0062 a0003c0009t0010 a0006c0021t0004	a0001c0001t0002g0311 a0001c0001t0002g0326 a0001c0001t0004g0005 others(150): Show a0001c0001t0002g0311 a0001c0001t0002g0326 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0027 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0049 a0001c0001t0004g0089 a0001c0001t0004g0101 a0001c0001t0004g0104 a0001c0001t0004g0114 a0001c0001t0004g0263 a0001c0001t0004g0271 a0001c0001t0005g0052 a0001c0001t0006g0012 a0001c0001t0006g0016 a0001c0001t0006g0018 a0001c0001t0006g0020 a0001c0001t0006g0021 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0006g0048 a0001c0001t0006g0055 a0001c0001t0006g0060 a0001c0001t0006g0064 a0001c0001t0010g0022 a0001c0001t0010g0056 a0001c0001t0010g0059 a0001c0001t0010g0065 a0001c0001t0010g0128 a0001c0001t0013g0318 a0001c0001t0013g0320 a0001c0001t0018g0050 a0001c0001t0021g0045 a0001c0001t0021g0046 a0001c0001t0021g0047 a0001c0001t0028g0282 a0001c0001t0032g0330 a0001c0001t0032g0331 a0001c0001t0036g0358 a0001c0001t0036g0359 a0001c0001t0059g0319 a0001c0001t0060g0019 a0001c0001t0061g0014 a0001c0001t0063g0083 a0001c0001t0074g0133 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0156 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0186 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0196 a0001c0002t0001g0199 a0001c0002t0001g0201 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0225 a0001c0002t0001g0228 a0001c0002t0001g0230 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0247 a0001c0002t0001g0252 a0001c0002t0001g0366 a0001c0002t0001g0367 a0001c0002t0001g0368 a0001c0002t0001g0369 a0001c0002t0006g0332 a0001c0002t0023g0152 a0001c0002t0023g0198 a0001c0002t0024g0238 a0001c0002t0038g0075 a0001c0002t0039g0195 a0001c0002t0043g0149 a0001c0002t0044g0200 a0001c0002t0047g0194 a0001c0002t0051g0204 a0001c0006t0004g0007 a0001c0006t0004g0254 a0001c0006t0004g0259 a0001c0006t0004g0261 a0001c0006t0004g0262 a0001c0006t0004g0305 a0001c0006t0004g0308 a0001c0006t0031g0260 a0001c0006t0031g0306 a0001c0006t0076g0307 a0001c0012t0006g0015 a0001c0012t0062g0067 a0003c0009t0010g0024 a0003c0009t0010g0025 a0003c0009t0010g0058 a0006c0021t0004g0006	155	163	0.9509	-27	c.988 others(42): Show c.988-594_988-568delGTTTTTTTTTTTTTTTTTTTTTTTTTT		SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	10/15						chr1	TogoVar
SON_chr21_33538038_33582481	33577675	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0054 a0002c0003t0001g0054	1	359	0.0028	-27	c.12 others(38): Show c.1252_*1278delCACACACACACACACACACACACACAC		SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding					195		chr21	TogoVar
SON_chr21_33538038_33582481	33580463	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0010 a0010	a0010c0040 a0010c0040	a0010c0040t0001 a0010c0040t0001	a0010c0040t0001g0113 a0010c0040t0001g0113	1	9	0.1111	-27	c.40 others(38): Show c.4040_*4066delAAAAAAAAAAAAAAAAAAAAAAAAAAA		SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding					2983		chr21	TogoVar
SORCS1_chr10_106568663_107169706	106986207	TATATATG others(20): Show TATATATGTACATACAGCATGTATATTC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0030 a0001c0005t0002g0030	1	130	0.0077	-27	c.559 others(46): Show c.559-29654_559-29628delGAATATACATGCTGTATGTACATATA T		SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25						chr10	TogoVar
SORCS2_chr4_7187538_7747827	7232032	GAGGATGC others(20): Show GAGGATGCTGACATCTGGGCAGCGGAGC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0048 a0001c0001t0004g0048	1	168	0.0060	-27	c.480 others(46): Show c.480+38907_480+38933delAGGATGCTGACATCTGGGCAGCGGAG C		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26						chr4	TogoVar
SORCS2_chr4_7187538_7747827	7469108	GTGGTGGT others(20): Show GTGGTGGTGATGGTGCTGATAGTGGTCA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02258.hp1 HG02451.hp2 others(11): Show HG01361.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02886.hp1 HG02886.hp2 HG03540.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0014 a0017	a0001c0001 a0001c0003 a0001c0005 others(9): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0029 a0001c0053 a0003c0012 a0003c0013 a0003c0035 a0006c0008 a0014c0052 a0017c0019	a0001c0001t0003 a0001c0003t0014 a0001c0003t0023 others(10): Show a0001c0001t0003 a0001c0003t0014 a0001c0003t0023 a0001c0005t0003 a0001c0010t0026 a0001c0029t0061 a0001c0053t0001 a0003c0012t0046 a0003c0013t0018 a0003c0035t0008 a0006c0008t0001 a0014c0052t0003 a0017c0019t0013	a0001c0001t0003g0138 a0001c0001t0003g0168 a0001c0003t0014g0034 others(11): Show a0001c0001t0003g0138 a0001c0001t0003g0168 a0001c0003t0014g0034 a0001c0003t0023g0147 a0001c0005t0003g0032 a0001c0010t0026g0105 a0001c0029t0061g0162 a0001c0053t0001g0044 a0003c0012t0046g0033 a0003c0013t0018g0100 a0003c0035t0008g0075 a0006c0008t0001g0029 a0014c0052t0003g0030 a0017c0019t0013g0027	14	168	0.0833	-27	c.549 others(46): Show c.549-62410_549-62384delGTGCTGATAGTGGTCATGGTGGTGAT G		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7663154	GTGAGTGA others(20): Show GTGAGTGAGTGAATGAGTGATGAGTGAA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0102 a0001c0005t0005g0102	1	168	0.0060	-27	c.953 others(44): Show c.953-1187_953-1161delATGAGTGATGAGTGAATGAGTGAGTGA		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	6/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7706064	GGATGAGG others(20): Show GGATGAGGCTGGGCTCTGCCTGGACAGA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0061 a0001c0029t0061	a0001c0029t0061g0162 a0001c0029t0061g0162	1	168	0.0060	-27	c.186 others(46): Show c.1868+1798_1868+1824delCCTGGACAGAGATGAGGCTGGGCTCT G		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	14/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7706540	GATGAGGC others(20): Show GATGAGGCTGGGCTCTGCCTGGACAGAC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0001 a0001c0048t0001	a0001c0048t0001g0146 a0001c0048t0001g0146	1	168	0.0060	-27	c.186 others(46): Show c.1868+2273_1868+2299delCCTGGACAGACATGAGGCTGGGCTCT G		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	14/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724120	GGTGGTGG others(20): Show GGTGGTGGTGGTGGTGGTGGTGATGGTC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02451.hp2 HG02559.hp1 others(2): Show HG00639.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02970.hp2	a0001 a0004 a0014 a0001 a0004 a0014	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0004c0043 a0014c0052	a0001c0001t0003 a0001c0002t0003 a0001c0005t0003 others(2): Show a0001c0001t0003 a0001c0002t0003 a0001c0005t0003 a0004c0043t0031 a0014c0052t0003	a0001c0001t0003g0097 a0001c0002t0003g0018 a0001c0005t0003g0101 others(2): Show a0001c0001t0003g0097 a0001c0002t0003g0018 a0001c0005t0003g0101 a0004c0043t0031g0058 a0014c0052t0003g0030	5	168	0.0298	-27	c.261 others(44): Show c.2611+253_2611+279delGTGGTGATGGTCGTGGTGGTGGTGGTG		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104684779	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG01358.hp1 others(6): Show HG00140.hp1 HG00642.hp1 HG01358.hp1 HG03139.hp1 HG06807.hp1 NA18906.hp1 NA19002.hp1 NA19003.hp1 NA19010.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0005c0007	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0005t0001 a0001c0006t0004 a0005c0007t0001	a0001c0001t0002g0065 a0001c0001t0004g0048 a0001c0001t0004g0066 others(6): Show a0001c0001t0002g0065 a0001c0001t0004g0048 a0001c0001t0004g0066 a0001c0001t0004g0094 a0001c0002t0001g0057 a0001c0005t0001g0007 a0001c0006t0004g0047 a0005c0007t0001g0060 a0005c0007t0001g0061	9	29	0.3103	-27	c.627 others(46): Show c.627+42853_627+42879delTTTTTTTTTTTTTTTTTTTTTTTTTT T		SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105242815	ATTTTTAT others(20): Show ATTTTTATATATAAATTATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG04204.hp2 HG02738.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0113 a0001c0002t0001g0012 a0001c0001t0001g0113 a0001c0002t0001g0012	2	134	0.0149	-27	c.286 others(46): Show c.2869-2723_2869-2697delTTATATATAAATTATATATATATTTT T		SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	20/26					INFO_REALIGN_3_PRIME	chr10	TogoVar
SOWAHB_chr4_76889152_76903144	76900840	AAAAAAAA others(20): Show AAAAAAAAAAAACAAAAAAAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0009 a0004c0005t0009	a0004c0005t0009g0000 a0004c0005t0009g0000	1	436	0.0023	-27	c.-30 others(38): Show c.-3018_-2992delGTTTTTTTTTTTTTTGTTTTTTTTTTT		SOWAHB	ENSG00000186212.4	transcript	ENST00000334306.4	protein_coding					2697		chr4	TogoVar
SOX11_chr2_5687384_5706385	5706358	GAGCAGGG others(20): Show GAGCAGGGAGACTGGGGTGGAGAAGCTG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18955.hp1 NA18965.hp1 others(5): Show NA18940.hp2 NA18955.hp1 NA18965.hp1 NA18980.hp1 NA19057.hp1 NA19063.hp1 NA19079.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0029 others(3): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0029 a0001c0001t0042 a0001c0001t0087 a0001c0001t0116	a0001c0001t0002g0000 a0001c0001t0011g0000 a0001c0001t0029g0000 others(3): Show a0001c0001t0002g0000 a0001c0001t0011g0000 a0001c0001t0029g0000 a0001c0001t0042g0000 a0001c0001t0087g0000 a0001c0001t0116g0000	8	418	0.0191	-27	c.12 others(40): Show c.12312_*12338delAGCAGGGAGACTGGGGTGGAGAAGCTG		SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding					4974		chr2	TogoVar
SOX2_chr3_181706925_181719436	181715433	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00673.hp1 HG01123.hp2 others(25): Show HG00558.hp2 HG00673.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG02015.hp2 HG02559.hp2 HG02572.hp2 HG02735.hp1 HG02809.hp1 HG02965.hp2 HG03098.hp1 HG03209.hp2 HG03453.hp2 HG03579.hp2 NA18612.hp2 NA18906.hp1 NA18944.hp1 NA18945.hp1 NA18951.hp2 NA18973.hp1 NA18985.hp2 NA18991.hp1 NA19003.hp2 NA19004.hp2 NA19010.hp1 NA19064.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(1): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0008g0000	28	33	0.8485	-27	c.21 others(38): Show c.2120_*2146delTTTTTTTTTTTTTTTTTTTTTTTTTTT		SOX2	ENSG00000181449.4	transcript	ENST00000325404.3	protein_coding					998		chr3	TogoVar
SOX4_chr6_21588751_21603619	21602219	ATTGCGCC others(20): Show ATTGCGCCTGTAGCTTCTGGCGGTGTCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18968.hp1 NA18950.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0000 a0001c0001t0011g0000 a0001c0001t0001g0000 a0001c0001t0011g0000	2	354	0.0056	-27	c.62 others(38): Show c.6261_*6287delTTGCGCCTGTAGCTTCTGGCGGTGTCG		SOX4	ENSG00000124766.7	transcript	ENST00000244745.4	protein_coding					3601		chr6	TogoVar
SOX5_chr12_23524504_23954670	23570925	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0120 a0001c0001t0120	a0001c0001t0120g0107 a0001c0001t0120g0107	1	193	0.0052	-27	c.134 others(46): Show c.1342+4709_1342+4735delATATATATATATATATATATATTTTT T		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14						chr12	TogoVar
SOX6_chr11_15961449_16361546	16132308	AAGGAAGG others(20): Show AAGGAAGGAAGGAAGGAAGGAAGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0143	1	216	0.0046	-27	c.778 others(46): Show c.778-20412_778-20386delCTTTCCTTCCTTCCTTCCTTCCTTCC T		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15						chr11	TogoVar
SOX6_chr11_15961449_16361546	16132318	GGAAGGAA others(20): Show GGAAGGAAGGAAGGAAAGAAAAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0122 a0001c0001t0018g0122	1	191	0.0052	-27	c.778 others(46): Show c.778-20422_778-20396delTTTCTTTTTTCTTTCCTTCCTTCCTT C		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15						chr11	TogoVar
SOX6_chr11_15961449_16361546	16132322	GGAAGGAA others(20): Show GGAAGGAAGGAAAGAAAAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0033 a0001c0001t0017g0033	1	175	0.0057	-27	c.778 others(46): Show c.778-20426_778-20400delTTTCTTTCTTTTTTCTTTCCTTCCTT C		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15						chr11	TogoVar
SP110_chr2_230160186_230224984	230206570	TATTATAT others(20): Show TATTATATATTATCTGGTCCAGATTTTA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0047 a0001c0007t0047	a0001c0007t0047g0330 a0001c0007t0047g0330	1	426	0.0023	-27	c.898 others(44): Show c.898+1394_898+1420delTAAAATCTGGACCAGATAATATATAAT		SP110	ENSG00000135899.20	transcript	ENST00000258381.11	protein_coding	8/18						chr2	TogoVar
SP140_chr2_230220736_230318215	230259770	TCATATAT others(20): Show TCATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00639.hp2 others(48): Show HG00408.hp2 HG00558.hp2 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01070.hp2 HG01106.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01993.hp1 HG02015.hp2 HG02155.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG02630.hp2 HG02723.hp2 HG02818.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03486.hp2 HG03540.hp2 HG03669.hp1 HG04115.hp1 NA18939.hp1 NA18951.hp1 NA18954.hp2 NA18964.hp1 NA18965.hp2 NA18969.hp1 NA18977.hp1 NA18978.hp1 NA18982.hp1 NA18991.hp1 NA18994.hp1 NA19003.hp1 NA19062.hp1 NA19063.hp1 NA19079.hp1 NA19081.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0011	a0001c0001 a0002c0002 a0002c0008 others(4): Show a0001c0001 a0002c0002 a0002c0008 a0004c0003 a0008c0010 a0008c0019 a0011c0014	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0008t0001 a0002c0008t0002 a0004c0003t0001 a0008c0010t0001 a0008c0019t0001 a0011c0014t0001	a0001c0001t0001g0005 a0001c0001t0001g0026 a0001c0001t0001g0027 others(43): Show a0001c0001t0001g0005 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0002g0208 a0001c0001t0002g0271 a0002c0002t0001g0004 a0002c0002t0001g0021 a0002c0002t0001g0151 a0002c0002t0001g0153 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0008t0001g0022 a0002c0008t0001g0317 a0002c0008t0001g0321 a0002c0008t0002g0336 a0004c0003t0001g0267 a0008c0010t0001g0074 a0008c0010t0001g0117 a0008c0019t0001g0034 a0011c0014t0001g0259	51	368	0.1386	-27	c.124 others(46): Show c.1240+4241_1240+4267delTATATATATATATATATATATATACC A		SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	12/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
SP1_chr12_53375176_53421446	53420351	CCGAGGCA others(20): Show CCGAGGCAGGAGAATTGCTTGAACCCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0209 a0001c0002t0002g0209	1	324	0.0031	-27	c.91 others(38): Show c.9112_*9138delCGAGGCAGGAGAATTGCTTGAACCCAG		SP1	ENSG00000185591.10	transcript	ENST00000327443.9	protein_coding					3906		chr12	TogoVar
SPACA1_chr6_88042841_88071838	88048965	CTCATATC others(20): Show CTCATATCTCTTCAGTCTATACATATCG	C C	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	326	0.0031	-27	c.208 others(42): Show c.208+853_208+879delTCATATCTCTTCAGTCTATACATATCG		SPACA1	ENSG00000118434.9	transcript	ENST00000237201.2	protein_coding	1/6						chr6	TogoVar
SPACA4_chr19_48601742_48612714	48602705	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	265	0.0038	-27	c.-42 others(38): Show c.-4273_-4247delTATATATATATATATATATATATATAT		SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding					4036		chr19	TogoVar
SPACA7_chr13_112371355_112439689	112383171	AAGAAAGA others(20): Show AAGAAAGAAAGAAAGAAAGAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	390	0.0026	-27	c.94+ others(42): Show c.94+6694_94+6720delGAAAGAAAGAAAGAAAGAAAGAAAAGA		SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr13	TogoVar
SPAG4_chr20_35610829_35626094	35615425	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	267	0.0037	-27	c.-57 others(36): Show c.-578_-552delAAGAAAGAAAGAAAGAAAGAAAGAAAG		SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding					403		chr20	TogoVar
SPAG9_chr17_50957174_51125868	51072205	GGGATTAC others(20): Show GGGATTACAGGCATGCGCCACCACACCT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00639.hp1 others(29): Show HG00140.hp2 HG00280.hp1 HG00639.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01358.hp2 HG01884.hp1 HG01952.hp2 HG02148.hp1 HG02559.hp1 HG02572.hp1 HG02647.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG03017.hp1 HG03654.hp1 HG04204.hp2 NA18522.hp1 NA18982.hp2 NA18986.hp1 NA18988.hp2 NA18995.hp1 NA19088.hp1 NA19240.hp1 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0004c0006t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(29): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0194 a0001c0001t0001g0269 a0001c0001t0004g0179 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0187 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0202 a0001c0001t0013g0180 a0001c0001t0013g0183 a0004c0006t0001g0060	32	290	0.1103	-27	c.424 others(44): Show c.424+7352_424+7378delAGGTGTGGTGGCGCATGCCTGTAATCC		SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29						chr17	TogoVar
SPATA1_chr1_84501386_84572379	84511655	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0145 a0002c0002t0003g0145	1	198	0.0051	-27	c.-13 others(46): Show c.-137-4552_-137-4526delCTTTCTTTCTTTTTTTTTTTTTTTTT T		SPATA1	ENSG00000122432.19	transcript	ENST00000699524.1	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA2_chr20_49898391_49920529	49915087	GAAATCGG others(20): Show GAAATCGGGGTGTCCTTCTGTTTGGCCA	G G	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0061 a0001c0001t0007g0061	1	424	0.0024	-27	c.-10 others(44): Show c.-103+266_-103+292delTGGCCAAACAGAAGGACACCCCGATTT		SPATA2	ENSG00000158480.11	transcript	ENST00000289431.10	protein_coding	1/2						chr20	TogoVar
SPATA3_chr2_230991121_231013040	230996317	TCAGCAGC others(20): Show TCAGCAGCCTAGCCCTGAATCCACACCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(222): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02165.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0005 a0001c0013 others(4): Show a0001c0001 a0001c0005 a0001c0013 a0001c0014 a0001c0016 a0004c0004 a0004c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0005t0002 a0001c0013t0001 a0001c0014t0001 a0001c0016t0002 a0004c0004t0002 a0004c0004t0007 a0004c0015t0002	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 others(81): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0002g0007 a0001c0001t0002g0019 a0001c0001t0002g0076 a0001c0001t0002g0107 a0001c0001t0010g0034 a0001c0001t0013g0105 a0001c0001t0014g0102 a0001c0001t0015g0060 a0001c0005t0002g0005 a0001c0005t0002g0009 a0001c0005t0002g0014 a0001c0005t0002g0015 a0001c0005t0002g0025 a0001c0005t0002g0027 a0001c0005t0002g0033 a0001c0005t0002g0037 a0001c0005t0002g0038 a0001c0005t0002g0042 a0001c0005t0002g0062 a0001c0005t0002g0063 a0001c0005t0002g0064 a0001c0005t0002g0067 a0001c0005t0002g0078 a0001c0005t0002g0080 a0001c0005t0002g0081 a0001c0005t0002g0082 a0001c0005t0002g0083 a0001c0005t0002g0096 a0001c0005t0002g0097 a0001c0005t0002g0103 a0001c0013t0001g0003 a0001c0014t0001g0111 a0001c0016t0002g0005 a0004c0004t0002g0001 a0004c0004t0002g0036 a0004c0004t0002g0039 a0004c0004t0002g0040 a0004c0004t0002g0043 a0004c0004t0002g0072 a0004c0004t0002g0073 a0004c0004t0002g0077 a0004c0004t0002g0084 a0004c0004t0002g0085 a0004c0004t0002g0086 a0004c0004t0002g0087 a0004c0004t0002g0088 a0004c0004t0002g0091 a0004c0004t0002g0092 a0004c0004t0002g0093 a0004c0004t0002g0094 a0004c0004t0002g0095 a0004c0004t0002g0101 a0004c0004t0007g0028 a0004c0015t0002g0001	225	434	0.5184	-27	c.96_ others(33): Show c.96_122delCCCTGAATCCACACCACAGCAGCCTAG	p.Pro others(11): Show p.Pro33_Ser41del	SPATA3	ENSG00000173699.17	transcript	ENST00000433428.7	protein_coding	1/5	209/1629	96/579	32/192		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA5_chr4_122918078_123324433	123017135	TGGGGAGA others(20): Show TGGGGAGAGGGAGAGGGGGGAGAGGGAA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01346.hp1 HG01934.hp2 others(3): Show HG01071.hp2 HG01346.hp1 HG01934.hp2 HG03139.hp1 HG04199.hp1 NA18992.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0006 a0001c0001 a0003c0003 a0004c0006	a0001c0001t0003 a0001c0001t0074 a0003c0003t0005 others(3): Show a0001c0001t0003 a0001c0001t0074 a0003c0003t0005 a0003c0003t0041 a0004c0006t0053 a0004c0006t0055	a0001c0001t0003g0097 a0001c0001t0074g0260 a0003c0003t0005g0005 others(3): Show a0001c0001t0003g0097 a0001c0001t0074g0260 a0003c0003t0005g0005 a0003c0003t0041g0006 a0004c0006t0053g0004 a0004c0006t0055g0014	6	260	0.0231	-27	c.187 others(48): Show c.1870-11023_1870-10997delGGGGAGAGGGAGAGGGGGGAGAGG GAA		SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
SPC24_chr19_11140493_11160782	11144839	CCACGGCA others(20): Show CCACGGCAACTTCCTGGGCTCAAGCGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0062 a0002c0003t0062	a0002c0003t0062g0179 a0002c0003t0062g0179	1	436	0.0023	-27	c.23 others(38): Show c.2317_*2343delATCGCTTGAGCCCAGGAAGTTGCCGTG		SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding					653		chr19	TogoVar
SPCS3_chr4_176314966_176337245	176321077	CTTACACA others(20): Show CTTACACAAGTTCTTTAACCTTAGTTTA	C C	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	468	0.0021	-27	c.143 others(42): Show c.143+861_143+887delACACAAGTTCTTTAACCTTAGTTTATT		SPCS3	ENSG00000129128.13	transcript	ENST00000503362.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr4	TogoVar
SPDYC_chr11_65165233_65178374	65166379	CTTTTTCT others(20): Show CTTTTTCTTTTTCTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 NA19030.hp1 HG02965.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0024 a0001c0001t0001g0026	2	434	0.0046	-27	c.-39 others(38): Show c.-3913_-3887delTTTTTCTTTTTCTTTTTTTTTTTTTTT		SPDYC	ENSG00000204710.3	transcript	ENST00000377185.3	protein_coding					3853		chr11	TogoVar
SPDYE12_chr7_74899289_74920078	74912770	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02258.hp1 HG02647.hp1 others(5): Show HG02040.hp2 HG02258.hp1 HG02647.hp1 HG02723.hp2 HG02818.hp2 HG03486.hp2 NA19240.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0016 a0001c0001t0023 a0001c0001t0005 a0001c0001t0016 a0001c0001t0023	a0001c0001t0005g0017 a0001c0001t0005g0126 a0001c0001t0005g0128 others(2): Show a0001c0001t0005g0017 a0001c0001t0005g0126 a0001c0001t0005g0128 a0001c0001t0016g0127 a0001c0001t0023g0129	8	15	0.5333	-27	c.130 others(42): Show c.130+354_130+380delAAAAAAAAAAAAAAAAAAAAAAAAAAA		SPDYE12	ENSG00000184616.12	transcript	ENST00000618416.5	protein_coding	2/7						chr7	TogoVar
SPDYE21_chr7_67271941_67294005	67274831	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0148 a0003c0003t0002g0148	1	44	0.0227	-27	c.-26 others(38): Show c.-2653_-2627delAAAAAAAAAAAAAAAAAAAAAAAAAAA		SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding					2109		chr7	TogoVar
SPEM3_chr17_7423857_7437820	7427970	TCTGAAAT others(20): Show TCTGAAATGAAACTGCAGGAGTGGCCGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0021 a0021	a0021c0017 a0021c0017	a0021c0017t0001 a0021c0017t0001	a0021c0017t0001g0001 a0021c0017t0001g0001	1	352	0.0028	-27	c.-93 others(36): Show c.-932_-906delCTGAAATGAAACTGCAGGAGTGGCCGA		SPEM3	ENSG00000283439.4	transcript	ENST00000636696.4	protein_coding					886		chr17	TogoVar
SPHKAP_chr2_227974955_228186687	228177080	TGTAAGGA others(20): Show TGTAAGGACCCATTTACAAGATCATGGA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00738.hp1 HG01167.hp1 others(32): Show HG00609.hp2 HG00738.hp1 HG01167.hp1 HG01496.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02132.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02293.hp1 HG02300.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02922.hp1 HG03490.hp2 HG03540.hp2 HG03831.hp1 NA18747.hp1 NA18946.hp2 NA18956.hp1 NA18982.hp2 NA18988.hp1 NA19001.hp2 NA19005.hp1 NA19009.hp1 NA19058.hp1 NA19080.hp2 NA19088.hp2 NA20129.hp2 NA20805.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0010 a0016	a0001c0001 a0002c0002 a0003c0005 others(5): Show a0001c0001 a0002c0002 a0003c0005 a0003c0014 a0004c0003 a0005c0004 a0010c0009 a0016c0028	a0001c0001t0002 a0001c0001t0008 a0002c0002t0001 others(9): Show a0001c0001t0002 a0001c0001t0008 a0002c0002t0001 a0003c0005t0001 a0003c0005t0005 a0003c0014t0001 a0004c0003t0001 a0004c0003t0002 a0004c0003t0003 a0005c0004t0003 a0010c0009t0003 a0016c0028t0003	a0001c0001t0002g0006 a0001c0001t0002g0244 a0001c0001t0002g0246 others(32): Show a0001c0001t0002g0006 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0263 a0001c0001t0008g0264 a0002c0002t0001g0239 a0002c0002t0001g0241 a0002c0002t0001g0256 a0003c0005t0001g0232 a0003c0005t0001g0248 a0003c0005t0005g0300 a0003c0005t0005g0301 a0003c0014t0001g0124 a0003c0014t0001g0125 a0004c0003t0001g0247 a0004c0003t0001g0265 a0004c0003t0002g0250 a0004c0003t0003g0238 a0005c0004t0003g0113 a0005c0004t0003g0231 a0005c0004t0003g0233 a0005c0004t0003g0234 a0005c0004t0003g0235 a0005c0004t0003g0236 a0005c0004t0003g0237 a0005c0004t0003g0240 a0005c0004t0003g0242 a0005c0004t0003g0243 a0005c0004t0003g0245 a0005c0004t0003g0253 a0010c0009t0003g0251 a0016c0028t0003g0252	35	320	0.1094	-27	c.32+ others(42): Show c.32+4460_32+4486delTCCATGATCTTGTAAATGGGTCCTTAC		SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11						chr2	TogoVar
SPIC_chr12_101470336_101491997	101479284	AAAAGAAA others(20): Show AAAAGAAAGAAAGAAAGAAAGAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18993.hp2 HG00558.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0157 a0001c0001t0001g0146 a0001c0001t0001g0157	2	347	0.0058	-27	c.98- others(40): Show c.98-274_98-248delAAAGAAAGAAAGAAAGAAAGAAAGAAA		SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr12	TogoVar
SPOCK1_chr5_136970298_137504326	137292426	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG03139.hp2 NA19004.hp2 HG01516.hp2 HG03139.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0010 a0001c0002t0014 a0001c0001t0002 a0001c0001t0010 a0001c0002t0014	a0001c0001t0002g0100 a0001c0001t0010g0012 a0001c0002t0014g0008 a0001c0001t0002g0100 a0001c0001t0010g0012 a0001c0002t0014g0008	3	6	0.5000	-27	c.187 others(46): Show c.187-25398_187-25372delTTTTTTTTTTTTTTTTTTTTTTTTTT T		SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10						chr5	TogoVar
SPOCK3_chr4_166728384_167239494	166969486	TTTAAATG others(20): Show TTTAAATGTGTTTAACACTTTTAACACA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp1 HG01257.hp1 others(18): Show HG00642.hp1 HG01109.hp1 HG01257.hp1 HG01884.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02622.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp2 NA18906.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0002 a0001c0002t0005 a0001c0004t0003 a0001c0009t0004 a0002c0003t0003	a0001c0001t0001g0015 a0001c0001t0001g0045 a0001c0001t0001g0142 others(18): Show a0001c0001t0001g0015 a0001c0001t0001g0045 a0001c0001t0001g0142 a0001c0001t0002g0009 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0135 a0001c0001t0002g0141 a0001c0001t0003g0025 a0001c0001t0003g0047 a0001c0001t0003g0061 a0001c0001t0003g0069 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0005g0037 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0005g0074 a0001c0004t0003g0008 a0001c0009t0004g0011 a0002c0003t0003g0043	21	124	0.1694	-27	c.350 others(46): Show c.350+30836_350+30862delTGTGTTAAAAGTGTTAAACACATTTA A		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	4/10						chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167109487	TATATTTA others(20): Show TATATTTATATATTTTATATAAAATATA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG02622.hp1 others(1): Show HG01109.hp1 HG01884.hp1 HG02622.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0003g0025 others(1): Show a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0003g0025 a0001c0001t0003g0069	4	118	0.0339	-27	c.190 others(46): Show c.190-46977_190-46951delTATATTTTATATAAAATATATAAATA T		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10						chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167116585	TGTATATA others(20): Show TGTATATATATACATATATACTATATAC	T T	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	109	0.0092	-27	c.190 others(46): Show c.190-54075_190-54049delGTATATAGTATATATGTATATATATA C		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10						chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167205280	ATATATAT others(20): Show ATATATATTTTATATCTATAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01071.hp2 HG01175.hp2 others(4): Show HG00738.hp2 HG01071.hp2 HG01175.hp2 HG01952.hp2 HG02040.hp1 HG02602.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0003	a0001c0001t0001g0018 a0001c0001t0002g0026 a0001c0001t0002g0030 others(4): Show a0001c0001t0001g0018 a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0003g0017 a0001c0001t0003g0034 a0001c0002t0003g0035	7	139	0.0504	-27	c.189 others(46): Show c.189+28678_189+28704delATATATATTATAGATATAAAATATAT A		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10						chr4	TogoVar
SPON2_chr4_1161932_1177583	1169639	CATGGAGG others(20): Show CATGGAGGGTGGAGGACGACGGGGCCCA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	430	0.0023	-27	c.811 others(42): Show c.811+736_811+762delTGGGCCCCGTCGTCCTCCACCCTCCAT		SPON2	ENSG00000159674.12	transcript	ENST00000290902.10	protein_coding	5/5						chr4	TogoVar
SPOP_chr17_49593884_49683097	49615905	AATGAAGA others(20): Show AATGAAGAAAACAGAACTAAACCTAGCT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp1 HG00735.hp2 HG00323.hp2 HG00733.hp1 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0195 a0001c0001t0001g0214 a0001c0001t0003g0201 a0001c0001t0001g0195 a0001c0001t0001g0214 a0001c0001t0003g0201	3	388	0.0077	-27	c.480 others(44): Show c.480+3049_480+3075delAGCTAGGTTTAGTTCTGTTTTCTTCAT		SPOP	ENSG00000121067.19	transcript	ENST00000504102.6	protein_coding	5/9						chr17	TogoVar

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