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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SCN11A_chr3_38840764_39056944	38995819	G G	GTCTATCT others(21): Show GTCTATCTATCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02071.hp2 NA19070.hp1 others(2): Show HG01981.hp2 HG02071.hp2 NA19070.hp1 NA19086.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001	a0001c0001t0002g0022 a0001c0002t0001g0187 a0001c0002t0001g0191 others(2): Show a0001c0001t0002g0022 a0001c0002t0001g0187 a0001c0002t0001g0191 a0001c0002t0002g0156 a0002c0003t0001g0023	5	139	0.0360	28	c.-27 others(49): Show c.-279-35424_-279-35397dupTAGATAGATAGATAGATAGATAGA TAGA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	2/29			chr3	TogoVar
SCN1A_chr2_165980813_166133020	166050613	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01123.hp2 HG01261.hp1 others(4): Show HG00621.hp2 HG01123.hp2 HG01261.hp1 HG02723.hp1 HG03704.hp1 NA18939.hp2 NA18956.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0004 a0001c0001t0009 a0001c0003t0016 others(2): Show a0001c0001t0004 a0001c0001t0009 a0001c0003t0016 a0001c0004t0014 a0002c0002t0005	a0001c0001t0004g0281 a0001c0001t0009g0013 a0001c0003t0016g0344 others(4): Show a0001c0001t0004g0281 a0001c0001t0009g0013 a0001c0003t0016g0344 a0001c0004t0014g0090 a0002c0002t0005g0140 a0002c0002t0005g0182 a0002c0002t0005g0324	7	137	0.0511	28	c.964 others(45): Show c.964+1105_964+1106insTATATATATATATATATATATATATATA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	9/28			chr2	TogoVar
SCN1A_chr2_165980813_166133020	166072789	T T	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02145.hp2 HG02818.hp1 others(6): Show HG01496.hp2 HG02145.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03139.hp2 HG03225.hp1 NA19043.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0008c0013	a0001c0001t0006 a0001c0003t0022 a0001c0004t0014 others(2): Show a0001c0001t0006 a0001c0003t0022 a0001c0004t0014 a0002c0002t0013 a0008c0013t0038	a0001c0001t0006g0295 a0001c0001t0006g0343 a0001c0003t0022g0070 others(6): Show a0001c0001t0006g0295 a0001c0001t0006g0343 a0001c0003t0022g0070 a0001c0003t0022g0071 a0001c0004t0014g0033 a0001c0004t0014g0034 a0001c0004t0014g0137 a0002c0002t0013g0305 a0008c0013t0038g0304	9	214	0.0421	28	c.264 others(43): Show c.264+541_264+568dupGGAAGGAAGGAAGGAAGGAAGGAAGGAA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	4/28			chr2	TogoVar
SCN1A_chr2_165980813_166133020	166094802	G G	GCTCAATA others(21): Show GCTCAATAATAACATTCAGAATGTTATTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00544.hp1 others(69): Show HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01978.hp1 HG01993.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02135.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp2 HG03710.hp1 HG04199.hp1 HG04204.hp1 NA18939.hp1 NA18941.hp2 NA18944.hp2 NA18947.hp1 NA18952.hp2 NA18954.hp2 NA18960.hp1 NA18974.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18990.hp2 NA18993.hp1 NA19005.hp1 NA19006.hp1 NA19054.hp1 NA19065.hp1 NA19066.hp2 NA19078.hp2 NA19083.hp1 NA19084.hp2 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0020 a0001c0001t0034 a0001c0001t0039 a0001c0001t0050 a0001c0003t0022 a0001c0004t0014 a0001c0005t0030 a0001c0008t0003 a0002c0002t0013 a0002c0002t0015 a0002c0002t0028	a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0036 others(69): Show a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0258 a0001c0001t0001g0273 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0196 a0001c0001t0002g0262 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0009g0004 a0001c0001t0009g0005 a0001c0001t0009g0007 a0001c0001t0009g0008 a0001c0001t0009g0010 a0001c0001t0009g0011 a0001c0001t0009g0013 a0001c0001t0012g0026 a0001c0001t0012g0028 a0001c0001t0012g0030 a0001c0001t0012g0031 a0001c0001t0012g0032 a0001c0001t0015g0254 a0001c0001t0020g0009 a0001c0001t0020g0012 a0001c0001t0034g0006 a0001c0001t0039g0037 a0001c0001t0050g0051 a0001c0003t0022g0070 a0001c0003t0022g0071 a0001c0004t0014g0033 a0001c0004t0014g0034 a0001c0004t0014g0035 a0001c0005t0030g0038 a0001c0005t0030g0073 a0001c0008t0003g0062 a0002c0002t0013g0040 a0002c0002t0015g0020 a0002c0002t0028g0054 a0002c0002t0028g0056	72	354	0.2034	28	c.-14 others(49): Show c.-141-17002_-141-17001insGAATAACATTCTGAATGTTATTAT TGAG	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	2/28			chr2	TogoVar
SCN3B_chr11_123624188_123659624	123625973	A A	AGAGAGAG others(21): Show AGAGAGAGAGAGAGAGAGAGAGAGAGATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	368	0.0027	28	c.78 others(39): Show c.7825_*7826insGATCTCTCTCTCTCTCTCTCTCTCTCTC	SCN3B	ENSG00000166257.10	transcript	ENST00000299333.8	protein_coding		3214		chr11	TogoVar
SCN5A_chr3_38543062_38654687	38585662	G G	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(135): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG01070.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01517.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02735.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03225.hp2 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19012.hp2 NA19056.hp2 NA19057.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0008 others(5): Show a0001 a0002 a0008 a0011 a0019 a0020 a0023 a0024	a0001c0001 a0001c0002 a0001c0003 others(25): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0014 a0001c0020 a0001c0023 a0001c0033 a0001c0040 a0001c0047 a0001c0049 a0001c0051 a0002c0005 a0002c0006 a0002c0007 a0002c0009 a0002c0013 a0002c0015 a0002c0016 a0002c0035 a0002c0069 a0002c0070 a0008c0021 a0011c0032 a0019c0053 a0020c0052 a0023c0034 a0024c0036	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(36): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0014 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0021 a0001c0003t0025 a0001c0004t0001 a0001c0014t0004 a0001c0020t0001 a0001c0023t0001 a0001c0033t0002 a0001c0040t0001 a0001c0047t0001 a0001c0049t0003 a0001c0051t0002 a0002c0005t0001 a0002c0005t0012 a0002c0006t0002 a0002c0006t0003 a0002c0006t0004 a0002c0006t0005 a0002c0007t0003 a0002c0009t0007 a0002c0013t0001 a0002c0015t0013 a0002c0016t0002 a0002c0035t0004 a0002c0069t0002 a0002c0070t0001 a0008c0021t0002 a0011c0032t0001 a0019c0053t0009 a0020c0052t0004 a0023c0034t0002 a0024c0036t0009	a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0208 others(131): Show a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0231 a0001c0001t0002g0250 a0001c0001t0002g0266 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0316 a0001c0001t0003g0186 a0001c0001t0003g0198 a0001c0001t0003g0249 a0001c0001t0003g0262 a0001c0001t0003g0279 a0001c0001t0004g0194 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0317 a0001c0001t0004g0321 a0001c0001t0004g0322 a0001c0001t0004g0328 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0148 a0001c0002t0001g0156 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0166 a0001c0002t0001g0187 a0001c0002t0001g0195 a0001c0002t0001g0210 a0001c0002t0001g0224 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0236 a0001c0002t0001g0253 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0265 a0001c0002t0001g0270 a0001c0002t0001g0273 a0001c0002t0001g0282 a0001c0002t0001g0285 a0001c0002t0001g0299 a0001c0002t0001g0301 a0001c0002t0001g0303 a0001c0002t0001g0307 a0001c0002t0001g0315 a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0324 a0001c0002t0001g0326 a0001c0002t0014g0254 a0001c0003t0002g0004 a0001c0003t0002g0085 a0001c0003t0002g0199 a0001c0003t0003g0070 a0001c0003t0003g0084 a0001c0003t0003g0097 a0001c0003t0003g0181 a0001c0003t0004g0072 a0001c0003t0004g0178 a0001c0003t0004g0207 a0001c0003t0021g0122 a0001c0003t0025g0088 a0001c0004t0001g0005 a0001c0004t0001g0074 a0001c0004t0001g0075 a0001c0004t0001g0099 a0001c0004t0001g0101 a0001c0004t0001g0139 a0001c0004t0001g0142 a0001c0004t0001g0143 a0001c0004t0001g0144 a0001c0004t0001g0182 a0001c0004t0001g0183 a0001c0004t0001g0185 a0001c0004t0001g0202 a0001c0004t0001g0227 a0001c0014t0004g0284 a0001c0020t0001g0170 a0001c0020t0001g0172 a0001c0023t0001g0218 a0001c0023t0001g0286 a0001c0033t0002g0067 a0001c0040t0001g0108 a0001c0047t0001g0325 a0001c0049t0003g0241 a0001c0051t0002g0009 a0002c0005t0001g0038 a0002c0005t0001g0145 a0002c0005t0001g0169 a0002c0005t0001g0213 a0002c0005t0001g0226 a0002c0005t0001g0235 a0002c0005t0001g0242 a0002c0005t0001g0243 a0002c0005t0001g0251 a0002c0005t0001g0261 a0002c0005t0001g0268 a0002c0005t0001g0280 a0002c0005t0001g0312 a0002c0005t0012g0008 a0002c0006t0002g0221 a0002c0006t0002g0252 a0002c0006t0003g0001 a0002c0006t0003g0230 a0002c0006t0003g0256 a0002c0006t0003g0257 a0002c0006t0004g0246 a0002c0006t0004g0247 a0002c0006t0004g0314 a0002c0006t0005g0225 a0002c0006t0005g0248 a0002c0007t0003g0129 a0002c0009t0007g0060 a0002c0013t0001g0086 a0002c0013t0001g0201 a0002c0015t0013g0024 a0002c0016t0002g0119 a0002c0016t0002g0120 a0002c0035t0004g0078 a0002c0069t0002g0125 a0002c0070t0001g0123 a0008c0021t0002g0189 a0011c0032t0001g0200 a0019c0053t0009g0233 a0020c0052t0004g0323 a0023c0034t0002g0093 a0024c0036t0009g0095	138	155	0.8903	28	c.278 others(43): Show c.2787+28_2787+29insACACACACACACACACACACACACACAC	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	16/27			chr3	TogoVar
SCN7A_chr2_166398573_166499249	166413981	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02683.hp1 NA18985.hp1 HG02040.hp2 HG02683.hp1 NA18985.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0312 a0001c0001t0001g0323 a0003c0003t0001g0264 a0001c0001t0001g0312 a0001c0001t0001g0323 a0003c0003t0001g0264	3	144	0.0208	28	c.341 others(45): Show c.3415-861_3415-860insTATATATATATATATATATATATATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166475122	A A	ATATATAC others(21): Show ATATATACGTATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01175.hp1 HG01358.hp1 others(1): Show HG01123.hp2 HG01175.hp1 HG01358.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0024 a0001c0001 a0004c0024	a0001c0001t0003 a0001c0001t0010 a0004c0024t0028 a0001c0001t0003 a0001c0001t0010 a0004c0024t0028	a0001c0001t0003g0337 a0001c0001t0010g0335 a0001c0001t0010g0336 others(1): Show a0001c0001t0003g0337 a0001c0001t0010g0335 a0001c0001t0010g0336 a0004c0024t0028g0334	4	319	0.0125	28	c.235 others(43): Show c.235-779_235-778insCGTATATATATATATATATACGTATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	3/25			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166191708	T T	TATATACA others(21): Show TATATACATATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0010 a0010	a0010c0048 a0010c0048	a0010c0048t0003 a0010c0048t0003	a0010c0048t0003g0234 a0010c0048t0003g0234	1	288	0.0035	28	c.69 others(39): Show c.6963_*6964insGTGTGTGTATATATATATATATGTATAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding		3476		chr2	TogoVar
SCN9A_chr2_166190185_166380944	166233174	T T	TACTATTA others(21): Show TACTATTATATGCATATATACATATATGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02615.hp2 others(9): Show HG01891.hp1 HG02109.hp2 HG02615.hp2 HG02622.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp2 HG03540.hp2 HG03579.hp2	a0001 a0004 a0014 a0001 a0004 a0014	a0001c0002 a0001c0003 a0001c0005 others(4): Show a0001c0002 a0001c0003 a0001c0005 a0001c0011 a0004c0008 a0004c0024 a0014c0031	a0001c0002t0006 a0001c0003t0002 a0001c0003t0006 others(6): Show a0001c0002t0006 a0001c0003t0002 a0001c0003t0006 a0001c0003t0013 a0001c0005t0002 a0001c0011t0006 a0004c0008t0006 a0004c0024t0002 a0014c0031t0006	a0001c0002t0006g0269 a0001c0003t0002g0205 a0001c0003t0006g0078 others(9): Show a0001c0002t0006g0269 a0001c0003t0002g0205 a0001c0003t0006g0078 a0001c0003t0006g0274 a0001c0003t0006g0275 a0001c0003t0013g0289 a0001c0005t0002g0074 a0001c0011t0006g0194 a0004c0008t0006g0077 a0004c0024t0002g0193 a0014c0031t0006g0191 a0014c0031t0006g0192	12	294	0.0408	28	c.392 others(45): Show c.3924+165_3924+166insGCATATATGTATATATGCATATAATAGT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	21/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166313026	A A	ATTATTTA others(21): Show ATTATTTAATTTTCTGAATTAAATAATAG	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0162 a0001c0003t0001g0162	1	239	0.0042	28	c.-50 others(45): Show c.-50-1221_-50-1220insCTATTATTTAATTCAGAAAATTAAATAA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26			chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23343475	A A	AAAGGAAG others(21): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	209	0.0048	28	c.-8- others(43): Show c.-8-5110_-8-5083dupGGAAGGAAGGAAGGAAGGAAGGAAGGAA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23360201	A A	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	270	0.0037	28	c.776 others(45): Show c.776+4739_776+4740insTAAATAAATAAATAAATAAATAAATAAA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1284557	C C	CAGCGTGT others(21): Show CAGCGTGTGCTGGACCACGGGGGGTGCCG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0149 a0003c0004t0003g0149	1	287	0.0035	28	c.464 others(43): Show c.464+513_464+540dupGGGGGGTGCCGAGCGTGTGCTGGACCAC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1G_chr16_23177745_23221883	23204332	T T	TACATATA others(21): Show TACATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0007 a0001c0001t0005g0007	1	151	0.0066	28	c.107 others(47): Show c.1078-5417_1078-5416insCATATATATATATATATATATATATA GA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204334	T T	TATATATA others(21): Show TATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0233 a0001c0001t0005g0233	1	100	0.0100	28	c.107 others(47): Show c.1078-5415_1078-5414insTATATATATATATATATAGAGAGAGA GA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204334	T T	TATATATA others(21): Show TATATATATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0154 a0001c0003t0002g0154	1	100	0.0100	28	c.107 others(47): Show c.1078-5415_1078-5414insTATATATATATATATATATATATAGA GA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCP2_chr1_52922276_53056698	52960562	G G	GTATGTAT others(21): Show GTATGTATATATATGTATATATGTATGTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02630.hp1 others(3): Show HG01884.hp2 HG02257.hp2 HG02630.hp1 HG03195.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0009 a0001c0004t0013 a0001c0002t0002 a0001c0004t0009 a0001c0004t0013	a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 others(3): Show a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0004t0009g0171 a0001c0004t0009g0172 a0001c0004t0013g0269	6	278	0.0216	28	c.397 others(43): Show c.397-929_397-902dupATGTATATATGTATGTATATGTATATAT	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCRN1_chr7_29915109_29994801	29966159	C C	CAGAGAGA others(21): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18968.hp2 HG00423.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0149 a0001c0001t0003g0143 a0001c0001t0003g0149	2	33	0.0606	28	c.159 others(45): Show c.159+2722_159+2749dupCTCTCTCTCTCTCTCTCTCTCTCTCTCT	SCRN1	ENSG00000136193.17	transcript	ENST00000242059.10	protein_coding	2/7			chr7	TogoVar
SCUBE1_chr22_43192280_43348372	43192577	T T	TGTATATA others(21): Show TGTATATATATACGTATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0057 a0001c0053t0057	a0001c0053t0057g0235 a0001c0053t0057g0235	1	276	0.0036	28	c.11 others(41): Show c.11419_*11420insGTATATATATATATACGTATATATATAC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4702		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43290237	T T	TCTCTCCT others(21): Show TCTCTCCTCCAAGCATATGTGTCCTGGCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02723.hp1 HG03041.hp1 others(5): Show HG02486.hp2 HG02723.hp1 HG03041.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp2 NA18906.hp2 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0011	a0001c0018 a0002c0002 a0003c0001 others(3): Show a0001c0018 a0002c0002 a0003c0001 a0005c0030 a0005c0031 a0011c0056	a0001c0018t0008 a0002c0002t0011 a0003c0001t0079 others(4): Show a0001c0018t0008 a0002c0002t0011 a0003c0001t0079 a0005c0030t0014 a0005c0031t0004 a0005c0031t0017 a0011c0056t0078	a0001c0018t0008g0243 a0002c0002t0011g0003 a0003c0001t0079g0267 others(5): Show a0001c0018t0008g0243 a0002c0002t0011g0003 a0003c0001t0079g0267 a0005c0030t0014g0238 a0005c0030t0014g0239 a0005c0031t0004g0255 a0005c0031t0017g0009 a0011c0056t0078g0261	8	278	0.0288	28	c.484 others(43): Show c.484+808_484+809insGGCCAGGACACATATGCTTGGAGGAGAG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0079 a0001c0005t0009g0079	1	121	0.0083	28	c.120 others(45): Show c.1208-967_1208-966insAAAAAAAAAATATATATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(21): Show ATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0130 a0003c0011t0001g0130	1	121	0.0083	28	c.120 others(45): Show c.1208-967_1208-966insAAAAAAAAAAAATATATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCYGR8_chr2_227740894_227751220	227749841	A A	ATCCTTCC others(21): Show ATCCTTCCTTCCTTCCTTCCTTCCTTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00673.hp1 HG01069.hp1 others(26): Show HG00642.hp2 HG00673.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01106.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01517.hp1 HG01884.hp1 HG02004.hp2 HG02293.hp1 HG02622.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02922.hp2 HG02976.hp2 HG03490.hp1 HG03492.hp2 HG03927.hp2 HG04199.hp1 NA18950.hp2 NA18973.hp1 NA19012.hp1 NA19068.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0006	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0005c0006t0001	a0001c0001t0001g0000 a0002c0002t0001g0000 a0003c0003t0001g0000 others(2): Show a0001c0001t0001g0000 a0002c0002t0001g0000 a0003c0003t0001g0000 a0004c0004t0001g0000 a0005c0006t0001g0000	29	80	0.3625	28	c.36 others(39): Show c.3621_*3622insTCCTTCCTTCCTTCCTTCCTTCCTTCCT	SCYGR8	ENSG00000284635.2	transcript	ENST00000641981.2	protein_coding		3622		chr2	TogoVar
SDC2_chr8_96488813_96616790	96565084	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	74	0.0135	28	c.61- others(45): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDC2_chr8_96488813_96616790	96565097	T T	TTTTTTTT others(21): Show TTTTTTTTTTTTTTTTTTTTTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0235 a0002c0002t0002g0235	1	306	0.0033	28	c.61- others(45): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTGTTGTTGTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDC2_chr8_96488813_96616790	96565097	T T	TTTTTTTT others(21): Show TTTTTTTTTTTTTTTTTTTTTTTTTGTTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	306	0.0033	28	c.61- others(45): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTGTTGTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDC2_chr8_96488813_96616790	96565097	T T	TTTTTTTT others(21): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02257.hp1 others(2): Show HG01891.hp2 HG02109.hp1 HG02257.hp1 HG02622.hp1 HG02970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0002c0002t0008	a0001c0001t0001g0300 a0001c0001t0002g0073 a0001c0001t0002g0123 others(2): Show a0001c0001t0001g0300 a0001c0001t0002g0073 a0001c0001t0002g0123 a0002c0002t0002g0082 a0002c0002t0008g0331	5	310	0.0161	28	c.61- others(45): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTTGTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDC2_chr8_96488813_96616790	96608574	G G	GCGTTGGC others(21): Show GCGTTGGCTGGAGCTGCGTGCCCCCCTGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	332	0.0030	28	c.442 others(43): Show c.442+104_442+105insCGTTGGCTGGAGCTGCGTGCCCCCCTGA	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	4/4			chr8	TogoVar
SDCCAG8_chr1_243251041_243505091	243294506	C C	CGAGAGAG others(21): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01167.hp1 HG01167.hp2 others(9): Show HG01071.hp1 HG01167.hp1 HG01167.hp2 HG01516.hp1 HG02056.hp1 HG02622.hp2 HG02683.hp1 HG03490.hp1 HG04184.hp1 HG04228.hp2 NA18946.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0047 a0001c0001t0002g0076 a0001c0001t0002g0120 others(9): Show a0001c0001t0001g0047 a0001c0001t0002g0076 a0001c0001t0002g0120 a0001c0002t0002g0074 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0091 a0001c0002t0002g0093 a0001c0002t0002g0109 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0003g0111	12	33	0.3636	28	c.675 others(45): Show c.675+1307_675+1308insGAGAGAGAGAGAGAGAGAGAGAGAGAGA	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDCCAG8_chr1_243251041_243505091	243327389	T T	TTATAATT others(21): Show TTATAATTTTATAGAAATTAAAATTATAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	188	0.0053	28	c.106 others(47): Show c.1069-3150_1069-3149insATAATTTTATAGAAATTAAAATTATA AT	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02155.hp1 NA18612.hp2 others(5): Show HG02015.hp1 HG02155.hp1 NA18612.hp2 NA18906.hp2 NA18946.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0032 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0146 a0001c0001t0001g0163 a0001c0001t0001g0169	8	10	0.8000	28	c.-19 others(39): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding		1923		chr17	TogoVar
SDHAF3_chr7_97112698_97186763	97183901	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 NA18964.hp2 NA18978.hp1 others(4): Show HG02132.hp2 NA18964.hp2 NA18978.hp1 NA18984.hp2 NA19062.hp2 NA19079.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0278 others(4): Show a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0278 a0001c0001t0001g0285 a0001c0001t0001g0360 a0001c0001t0002g0099 a0001c0001t0003g0132	7	42	0.1667	28	c.26 others(39): Show c.2686_*2687insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding		2139		chr7	TogoVar
SDHAF4_chr6_70561930_70594569	70588842	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0054 a0002c0002t0021g0054	1	230	0.0043	28	c.13 others(37): Show c.132_*133insATATATATATATATATATATATATATAT	SDHAF4	ENSG00000154079.6	transcript	ENST00000370474.4	protein_coding	3/3	133	INFO_REALIGN_3_PRIME	chr6	TogoVar
SDHC_chr1_161309381_161368206	161339662	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02257.hp2 HG03492.hp2 others(1): Show HG00280.hp2 HG02257.hp2 HG03492.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0107 a0001c0001t0001g0108 others(1): Show a0001c0001t0001g0069 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0188	4	59	0.0678	28	c.180 others(43): Show c.180-931_180-904dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3319878	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0042 a0002c0042	a0002c0042t0002 a0002c0042t0002	a0002c0042t0002g0105 a0002c0042t0002g0105	1	32	0.0313	28	c.298 others(47): Show c.298+18011_298+18012insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3582683	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0047 a0003c0047	a0003c0047t0038 a0003c0047t0038	a0003c0047t0038g0082 a0003c0047t0038g0082	1	30	0.0333	28	c.299 others(47): Show c.299-36371_299-36370insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3655448	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0002 a0001c0037t0002	a0001c0037t0002g0077 a0001c0037t0002g0077	1	48	0.0208	28	c.713 others(47): Show c.713+13372_713+13399dupATATATATATATATATATATATATAT AT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3687056	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0034 a0034	a0034c0052 a0034c0052	a0034c0052t0032 a0034c0052t0032	a0034c0052t0032g0107 a0034c0052t0032g0107	1	17	0.0588	28	c.713 others(47): Show c.713+44968_713+44995dupACACACACACACACACACACACACAC AC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4074856	T T	TACTTTCT others(21): Show TACTTTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0031 a0031	a0031c0069 a0031c0069	a0031c0069t0069 a0031c0069t0069	a0031c0069t0069g0064 a0031c0069t0069g0064	1	73	0.0137	28	c.301 others(47): Show c.3011-2142_3011-2141insACTTTCTCTCTCTCTCTCTCTCTCTC TC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	20/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	4083546	C C	CTCCCTCC others(21): Show CTCCCTCCCTCCCTCCCTCCCTCCCTTCA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp1 HG00738.hp2 others(11): Show HG00408.hp2 HG00738.hp1 HG00738.hp2 HG01099.hp2 HG01175.hp1 HG01978.hp2 HG02602.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG03516.hp2 HG04228.hp2 NA19030.hp2 NA20752.hp2	a0001 a0002 a0006 others(5): Show a0001 a0002 a0006 a0010 a0011 a0023 a0028 a0033	a0001c0007 a0002c0009 a0002c0029 others(9): Show a0001c0007 a0002c0009 a0002c0029 a0002c0042 a0002c0053 a0002c0054 a0006c0016 a0010c0079 a0011c0021 a0023c0083 a0028c0018 a0033c0051	a0001c0007t0021 a0002c0009t0004 a0002c0009t0056 others(11): Show a0001c0007t0021 a0002c0009t0004 a0002c0009t0056 a0002c0029t0005 a0002c0042t0002 a0002c0053t0067 a0002c0054t0002 a0006c0016t0001 a0006c0016t0003 a0010c0079t0054 a0011c0021t0073 a0023c0083t0044 a0028c0018t0071 a0033c0051t0062	a0001c0007t0021g0110 a0002c0009t0004g0093 a0002c0009t0056g0044 others(11): Show a0001c0007t0021g0110 a0002c0009t0004g0093 a0002c0009t0056g0044 a0002c0029t0005g0094 a0002c0042t0002g0105 a0002c0053t0067g0034 a0002c0054t0002g0101 a0006c0016t0001g0114 a0006c0016t0003g0068 a0010c0079t0054g0071 a0011c0021t0073g0007 a0023c0083t0044g0004 a0028c0018t0071g0005 a0033c0051t0062g0019	14	76	0.1842	28	c.332 others(47): Show c.3324+3975_3324+3976insCCCTCCCTCCCTTCATCCCTCCCTCC CT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4139583	A A	ATATGTAT others(21): Show ATATGTATATATGTGTGTGTGTGTGTATG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0022 a0022	a0022c0094 a0022c0094	a0022c0094t0025 a0022c0094t0025	a0022c0094t0025g0049 a0022c0094t0025g0049	1	89	0.0112	28	c.422 others(47): Show c.4229-6138_4229-6137insATGTATATATGTGTGTGTGTGTGTAT GT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	28/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4264064	G G	GGGAGGCC others(21): Show GGGAGGCCGCGTAGACCTCTCCTGAGTGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03471.hp2 HG03540.hp2 HG02647.hp2 HG03471.hp2 HG03540.hp2	a0001 a0004 a0021 a0001 a0004 a0021	a0001c0011 a0004c0080 a0021c0068 a0001c0011 a0004c0080 a0021c0068	a0001c0011t0039 a0004c0080t0014 a0021c0068t0014 a0001c0011t0039 a0004c0080t0014 a0021c0068t0014	a0001c0011t0039g0061 a0004c0080t0014g0078 a0021c0068t0014g0014 a0001c0011t0039g0061 a0004c0080t0014g0078 a0021c0068t0014g0014	3	40	0.0750	28	c.638 others(47): Show c.6382-1058_6382-1057insAGGCCGCGTAGACCTCTCCTGAGTGA GG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73330545	C C	CTCTGTGT others(21): Show CTCTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0015 a0002c0030t0015	a0002c0030t0015g0095 a0002c0030t0015g0095	1	13	0.0769	28	c.80 others(39): Show c.8041_*8042insCACACACACACACACACACACACACAGA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding		3838		chr17	TogoVar
SDK2_chr17_73329384_73649445	73336877	T T	TGGGCTGG others(21): Show TGGGCTGGCCTTACAGGGCTGGCCTTACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02897.hp2 HG03942.hp1 HG02897.hp2 HG03942.hp1	a0001 a0001	a0001c0041 a0001c0084 a0001c0041 a0001c0084	a0001c0041t0099 a0001c0084t0088 a0001c0041t0099 a0001c0084t0088	a0001c0041t0099g0127 a0001c0084t0088g0015 a0001c0041t0099g0127 a0001c0084t0088g0015	2	178	0.0112	28	c.17 others(39): Show c.1709_*1710insTGTAAGGCCAGCCCTGTAAGGCCAGCCC	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	45/45	1709		chr17	TogoVar
SDK2_chr17_73329384_73649445	73350190	T T	TGGGCACT others(21): Show TGGGCACTGCTGGGCCTGGCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(128): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG01981.hp1 HG01981.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18961.hp1 NA18970.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19066.hp2 NA19074.hp1 NA19080.hp1 NA19080.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20905.hp1	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0017 a0020 a0022 a0023 a0024 a0026	a0001c0001 a0001c0002 a0001c0003 others(76): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0018 a0001c0023 a0001c0024 a0001c0025 a0001c0032 a0001c0035 a0001c0036 a0001c0041 a0001c0043 a0001c0048 a0001c0064 a0001c0067 a0001c0071 a0001c0072 a0001c0073 a0001c0110 a0001c0111 a0002c0020 a0002c0028 a0002c0029 a0002c0030 a0002c0031 a0002c0060 a0002c0061 a0002c0079 a0002c0102 a0002c0103 a0002c0104 a0002c0105 a0003c0009 a0003c0017 a0003c0022 a0003c0045 a0003c0088 a0003c0112 a0004c0011 a0004c0027 a0004c0040 a0004c0049 a0004c0066 a0004c0080 a0005c0012 a0005c0037 a0005c0065 a0006c0042 a0006c0056 a0006c0097 a0008c0047 a0008c0069 a0008c0090 a0009c0021 a0009c0113 a0010c0099 a0010c0100 a0011c0063 a0012c0062 a0012c0107 a0013c0077 a0014c0086 a0016c0057 a0017c0034 a0020c0087 a0022c0081 a0023c0058 a0024c0091 a0026c0074	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(114): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0025 a0001c0001t0032 a0001c0001t0068 a0001c0002t0001 a0001c0002t0010 a0001c0002t0096 a0001c0003t0002 a0001c0003t0051 a0001c0003t0061 a0001c0004t0001 a0001c0004t0010 a0001c0004t0019 a0001c0004t0079 a0001c0005t0001 a0001c0005t0017 a0001c0005t0024 a0001c0006t0002 a0001c0006t0010 a0001c0006t0014 a0001c0006t0018 a0001c0007t0002 a0001c0007t0003 a0001c0007t0013 a0001c0008t0030 a0001c0010t0004 a0001c0010t0008 a0001c0013t0002 a0001c0013t0013 a0001c0013t0100 a0001c0013t0101 a0001c0014t0092 a0001c0015t0012 a0001c0015t0030 a0001c0016t0026 a0001c0016t0028 a0001c0016t0080 a0001c0018t0008 a0001c0023t0008 a0001c0023t0017 a0001c0024t0009 a0001c0025t0016 a0001c0032t0001 a0001c0032t0002 a0001c0035t0056 a0001c0036t0029 a0001c0041t0099 a0001c0043t0033 a0001c0048t0073 a0001c0064t0031 a0001c0067t0014 a0001c0071t0071 a0001c0072t0009 a0001c0073t0038 a0001c0110t0002 a0001c0111t0001 a0002c0020t0026 a0002c0020t0089 a0002c0028t0060 a0002c0028t0062 a0002c0029t0003 a0002c0029t0045 a0002c0030t0015 a0002c0030t0072 a0002c0031t0006 a0002c0060t0021 a0002c0061t0002 a0002c0079t0002 a0002c0102t0021 a0002c0103t0097 a0002c0104t0003 a0002c0105t0021 a0003c0009t0002 a0003c0009t0003 a0003c0009t0016 a0003c0017t0086 a0003c0022t0003 a0003c0045t0098 a0003c0088t0012 a0003c0112t0019 a0004c0011t0011 a0004c0011t0018 a0004c0027t0011 a0004c0027t0024 a0004c0040t0028 a0004c0049t0002 a0004c0066t0018 a0004c0080t0054 a0005c0012t0058 a0005c0012t0081 a0005c0037t0057 a0005c0065t0013 a0006c0042t0053 a0006c0056t0002 a0006c0097t0070 a0008c0047t0023 a0008c0069t0102 a0008c0090t0023 a0009c0021t0004 a0009c0021t0019 a0009c0113t0064 a0010c0099t0013 a0010c0100t0069 a0011c0063t0025 a0012c0062t0001 a0012c0107t0031 a0013c0077t0036 a0014c0086t0012 a0016c0057t0003 a0017c0034t0042 a0020c0087t0014 a0022c0081t0001 a0023c0058t0067 a0024c0091t0008 a0026c0074t0009	a0001c0001t0001g0013 a0001c0001t0001g0064 a0001c0001t0001g0130 others(128): Show a0001c0001t0001g0013 a0001c0001t0001g0064 a0001c0001t0001g0130 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0002g0027 a0001c0001t0009g0122 a0001c0001t0009g0141 a0001c0001t0025g0086 a0001c0001t0032g0001 a0001c0001t0068g0012 a0001c0002t0001g0048 a0001c0002t0001g0114 a0001c0002t0001g0139 a0001c0002t0010g0184 a0001c0002t0096g0125 a0001c0003t0002g0076 a0001c0003t0051g0047 a0001c0003t0061g0042 a0001c0004t0001g0112 a0001c0004t0010g0021 a0001c0004t0010g0088 a0001c0004t0019g0132 a0001c0004t0079g0142 a0001c0005t0001g0053 a0001c0005t0017g0106 a0001c0005t0024g0189 a0001c0006t0002g0078 a0001c0006t0010g0133 a0001c0006t0014g0201 a0001c0006t0018g0111 a0001c0007t0002g0044 a0001c0007t0003g0014 a0001c0007t0003g0026 a0001c0007t0003g0028 a0001c0007t0013g0092 a0001c0008t0030g0104 a0001c0010t0004g0165 a0001c0010t0008g0059 a0001c0013t0002g0198 a0001c0013t0013g0193 a0001c0013t0100g0011 a0001c0013t0101g0137 a0001c0014t0092g0083 a0001c0015t0012g0074 a0001c0015t0030g0131 a0001c0016t0026g0128 a0001c0016t0028g0009 a0001c0016t0080g0166 a0001c0018t0008g0016 a0001c0018t0008g0157 a0001c0023t0008g0034 a0001c0023t0017g0187 a0001c0024t0009g0186 a0001c0025t0016g0056 a0001c0025t0016g0180 a0001c0032t0001g0138 a0001c0032t0002g0120 a0001c0035t0056g0066 a0001c0036t0029g0124 a0001c0041t0099g0127 a0001c0043t0033g0003 a0001c0048t0073g0109 a0001c0064t0031g0161 a0001c0067t0014g0025 a0001c0071t0071g0093 a0001c0072t0009g0075 a0001c0073t0038g0080 a0001c0110t0002g0121 a0001c0111t0001g0203 a0002c0020t0026g0108 a0002c0020t0089g0107 a0002c0028t0060g0018 a0002c0028t0062g0024 a0002c0029t0003g0079 a0002c0029t0045g0082 a0002c0030t0015g0095 a0002c0030t0072g0096 a0002c0031t0006g0123 a0002c0031t0006g0158 a0002c0060t0021g0144 a0002c0061t0002g0159 a0002c0079t0002g0199 a0002c0102t0021g0055 a0002c0103t0097g0164 a0002c0104t0003g0194 a0002c0105t0021g0149 a0003c0009t0002g0089 a0003c0009t0002g0200 a0003c0009t0003g0084 a0003c0009t0016g0103 a0003c0017t0086g0097 a0003c0022t0003g0168 a0003c0045t0098g0197 a0003c0088t0012g0174 a0003c0112t0019g0102 a0004c0011t0011g0060 a0004c0011t0018g0183 a0004c0027t0011g0035 a0004c0027t0024g0033 a0004c0040t0028g0129 a0004c0049t0002g0170 a0004c0066t0018g0031 a0004c0080t0054g0081 a0005c0012t0058g0041 a0005c0012t0081g0178 a0005c0037t0057g0148 a0005c0065t0013g0067 a0006c0042t0053g0030 a0006c0056t0002g0163 a0006c0097t0070g0049 a0008c0047t0023g0019 a0008c0069t0102g0118 a0008c0090t0023g0072 a0009c0021t0004g0192 a0009c0021t0019g0046 a0009c0113t0064g0023 a0010c0099t0013g0135 a0010c0100t0069g0091 a0011c0063t0025g0167 a0012c0062t0001g0140 a0012c0107t0031g0126 a0013c0077t0036g0188 a0014c0086t0012g0204 a0016c0057t0003g0172 a0017c0034t0042g0160 a0020c0087t0014g0065 a0022c0081t0001g0182 a0023c0058t0067g0162 a0024c0091t0008g0185 a0026c0074t0009g0113	131	202	0.6485	28	c.603 others(43): Show c.6038+46_6038+47insGGGTGGGGGGCCAGGCCCAGCAGTGCCC	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	43/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355159	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01175.hp1 HG02148.hp2 HG01169.hp2 HG01175.hp1 HG02148.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0016 a0002c0020 a0001c0001 a0001c0016 a0002c0020	a0001c0001t0001 a0001c0016t0026 a0002c0020t0026 a0001c0001t0001 a0001c0016t0026 a0002c0020t0026	a0001c0001t0001g0013 a0001c0016t0026g0128 a0002c0020t0026g0108 a0001c0001t0001g0013 a0001c0016t0026g0128 a0002c0020t0026g0108	3	174	0.0172	28	c.559 others(47): Show c.5594-2523_5594-2522insATATATATATATATATATATATATAT AT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0138 a0001c0032t0001g0138	1	52	0.0192	28	c.559 others(47): Show c.5594-2538_5594-2537insAAAATATATATATATATATATATATA TA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01891.hp1 HG02630.hp2 others(2): Show HG00733.hp1 HG01891.hp1 HG02630.hp2 HG02809.hp2 NA19240.hp1	a0001 a0019 a0001 a0019	a0001c0039 a0001c0051 a0001c0052 others(2): Show a0001c0039 a0001c0051 a0001c0052 a0001c0068 a0019c0092	a0001c0039t0047 a0001c0051t0046 a0001c0052t0007 others(2): Show a0001c0039t0047 a0001c0051t0046 a0001c0052t0007 a0001c0068t0007 a0019c0092t0007	a0001c0039t0047g0147 a0001c0051t0046g0061 a0001c0052t0007g0057 others(2): Show a0001c0039t0047g0147 a0001c0051t0046g0061 a0001c0052t0007g0057 a0001c0068t0007g0119 a0019c0092t0007g0116	5	56	0.0893	28	c.559 others(47): Show c.5594-2538_5594-2537insAAAAAAAAAATATATATATATATATA TA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(21): Show ATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03195.hp2 HG03486.hp1 others(1): Show HG02965.hp2 HG03195.hp2 HG03486.hp1 NA18522.hp1	a0001 a0001	a0001c0026 a0001c0033 a0001c0089 others(1): Show a0001c0026 a0001c0033 a0001c0089 a0001c0093	a0001c0026t0022 a0001c0033t0052 a0001c0089t0055 others(1): Show a0001c0026t0022 a0001c0033t0052 a0001c0089t0055 a0001c0093t0007	a0001c0026t0022g0117 a0001c0033t0052g0002 a0001c0089t0055g0175 others(1): Show a0001c0026t0022g0117 a0001c0033t0052g0002 a0001c0089t0055g0175 a0001c0093t0007g0058	4	55	0.0727	28	c.559 others(47): Show c.5594-2538_5594-2537insAAAAAAAAAAAATATATATATATATA TA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar

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