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
SDHAF3_chr7_97112698_97186763	97140723	C C	CCGTCATC others(10): Show CCGTCATCTTCGCAAGCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03098.hp1 HG02723.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0240 a0001c0002t0005g0241 a0001c0002t0005g0240 a0001c0002t0005g0241	2	400	0.0050	17	c.174 others(36): Show c.174+22827_174+22843dupCGTCATCTTCGCAAGCT	SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDHAF4_chr6_70561930_70594569	70568962	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02572.hp1 HG02293.hp2 HG02572.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0006 a0001c0001t0002 a0002c0002t0006	a0001c0001t0002g0097 a0002c0002t0006g0096 a0001c0001t0002g0097 a0002c0002t0006g0096	2	42	0.0476	17	c.64+ others(32): Show c.64+1963_64+1979dupTTTTTTTTTTTTTTTTT	SDHAF4	ENSG00000154079.6	transcript	ENST00000370474.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
SDHC_chr1_161309381_161368206	161309552	A A	ATATATAT others(10): Show ATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG03471.hp2 HG02055.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0215 a0001c0001t0001g0216	2	63	0.0317	17	c.-48 others(28): Show c.-4854_-4853insTATATATATATATTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding		4828		chr1	TogoVar
SDHC_chr1_161309381_161368206	161309552	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	62	0.0161	17	c.-48 others(28): Show c.-4854_-4853insTATATATATATTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding		4828		chr1	TogoVar
SDHC_chr1_161309381_161368206	161309552	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	62	0.0161	17	c.-48 others(28): Show c.-4854_-4853insTATATATATTTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding		4828		chr1	TogoVar
SDHC_chr1_161309381_161368206	161309552	A A	ATATATAT others(10): Show ATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0248 a0001c0001t0004g0248	1	62	0.0161	17	c.-48 others(28): Show c.-4854_-4853insTATATATTTTTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding		4828		chr1	TogoVar
SDHC_chr1_161309381_161368206	161309552	A A	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0252 a0001c0001t0004g0252	1	62	0.0161	17	c.-48 others(28): Show c.-4854_-4853insTATATTTTTTTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding		4828		chr1	TogoVar
SDHC_chr1_161309381_161368206	161309552	A A	ATATTTTT others(10): Show ATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG03516.hp1 HG02970.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0247 a0001c0001t0004g0249 a0001c0001t0004g0247 a0001c0001t0004g0249	2	63	0.0317	17	c.-48 others(28): Show c.-4854_-4853insTATTTTTTTTTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding		4828		chr1	TogoVar
SDHC_chr1_161309381_161368206	161334718	T T	TGTGAGCC others(10): Show TGTGAGCCGTAATCCCAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00544.hp2 others(87): Show HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00673.hp2 HG00741.hp2 HG01071.hp1 HG01109.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01891.hp1 HG01928.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02602.hp1 HG02630.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp2 NA18951.hp2 NA18956.hp1 NA18961.hp2 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18982.hp2 NA18986.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0004t0002 a0001c0005t0002 a0002c0003t0002	a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0014 others(81): Show a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0220 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0304 a0001c0001t0002g0311 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0004g0012 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0006g0305 a0001c0001t0006g0306 a0001c0001t0006g0307 a0001c0001t0006g0308 a0001c0001t0006g0309 a0001c0001t0006g0310 a0001c0001t0007g0245 a0001c0001t0012g0269 a0001c0004t0002g0257 a0001c0005t0002g0253 a0002c0003t0002g0264	90	327	0.2752	17	c.180 others(34): Show c.180-5876_180-5875insGTGAGCCGTAATCCCAG	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding	3/5			chr1	TogoVar
SDHC_chr1_161309381_161368206	161339662	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01255.hp2 HG01978.hp1 others(4): Show HG00438.hp1 HG01255.hp2 HG01978.hp1 HG02145.hp1 NA19005.hp1 NA19062.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0139 a0001c0001t0001g0140 others(4): Show a0001c0001t0001g0060 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0187 a0001c0001t0001g0190	7	62	0.1129	17	c.180 others(32): Show c.180-920_180-904dupTTTTTTTTTTTTTTTTT	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(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02258.hp1 HG00738.hp2 HG02258.hp1	a0001 a0001	a0001c0007 a0001c0064 a0001c0007 a0001c0064	a0001c0007t0021 a0001c0064t0006 a0001c0007t0021 a0001c0064t0006	a0001c0007t0021g0110 a0001c0064t0006g0111 a0001c0007t0021g0110 a0001c0064t0006g0111	2	33	0.0606	17	c.298 others(36): Show c.298+17995_298+18011dupTTTTTTTTTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3463543	T T	TAGTGCCA others(10): Show TAGTGCCAGCCCATGGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG01167.hp1 others(44): Show HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01243.hp1 HG01243.hp2 HG01361.hp2 HG01891.hp1 HG01891.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0011 a0012 a0014 a0015 a0016 a0020 a0022 a0023 a0027 a0028 a0029 a0030 a0031 a0032 a0034 a0035	a0001c0002 a0001c0008 a0001c0010 others(41): Show a0001c0002 a0001c0008 a0001c0010 a0001c0011 a0001c0014 a0001c0017 a0001c0031 a0001c0036 a0001c0037 a0001c0049 a0001c0060 a0001c0087 a0001c0088 a0001c0092 a0001c0093 a0001c0095 a0002c0030 a0002c0041 a0002c0043 a0002c0090 a0003c0047 a0004c0080 a0005c0058 a0005c0065 a0007c0006 a0009c0019 a0009c0020 a0011c0021 a0011c0022 a0012c0015 a0014c0085 a0015c0074 a0016c0045 a0020c0063 a0022c0094 a0023c0083 a0027c0089 a0028c0018 a0029c0084 a0030c0086 a0031c0069 a0032c0075 a0034c0052 a0035c0073	a0001c0002t0040 a0001c0008t0007 a0001c0010t0060 others(41): Show a0001c0002t0040 a0001c0008t0007 a0001c0010t0060 a0001c0011t0039 a0001c0014t0018 a0001c0017t0011 a0001c0031t0001 a0001c0036t0033 a0001c0037t0002 a0001c0049t0036 a0001c0060t0041 a0001c0087t0009 a0001c0088t0009 a0001c0092t0048 a0001c0093t0006 a0001c0095t0029 a0002c0030t0034 a0002c0041t0007 a0002c0043t0035 a0002c0090t0010 a0003c0047t0038 a0004c0080t0014 a0005c0058t0012 a0005c0065t0037 a0007c0006t0012 a0009c0019t0074 a0009c0020t0070 a0011c0021t0073 a0011c0022t0072 a0012c0015t0017 a0014c0085t0043 a0015c0074t0042 a0016c0045t0015 a0020c0063t0007 a0022c0094t0025 a0023c0083t0044 a0027c0089t0047 a0028c0018t0071 a0029c0084t0045 a0030c0086t0046 a0031c0069t0069 a0032c0075t0008 a0034c0052t0032 a0035c0073t0001	a0001c0002t0040g0084 a0001c0008t0007g0067 a0001c0010t0060g0017 others(44): Show a0001c0002t0040g0084 a0001c0008t0007g0067 a0001c0010t0060g0017 a0001c0011t0039g0061 a0001c0014t0018g0060 a0001c0014t0018g0062 a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0031t0001g0018 a0001c0036t0033g0116 a0001c0037t0002g0077 a0001c0049t0036g0109 a0001c0060t0041g0080 a0001c0087t0009g0054 a0001c0088t0009g0048 a0001c0092t0048g0057 a0001c0093t0006g0053 a0001c0095t0029g0050 a0002c0030t0034g0083 a0002c0041t0007g0108 a0002c0043t0035g0079 a0002c0090t0010g0047 a0003c0047t0038g0082 a0004c0080t0014g0078 a0005c0058t0012g0063 a0005c0065t0037g0065 a0007c0006t0012g0115 a0009c0019t0074g0006 a0009c0020t0070g0009 a0011c0021t0073g0007 a0011c0022t0072g0008 a0012c0015t0017g0059 a0012c0015t0017g0066 a0014c0085t0043g0010 a0015c0074t0042g0081 a0016c0045t0015g0046 a0020c0063t0007g0106 a0022c0094t0025g0049 a0023c0083t0044g0004 a0027c0089t0047g0056 a0028c0018t0071g0005 a0029c0084t0045g0011 a0030c0086t0046g0012 a0031c0069t0069g0064 a0032c0075t0008g0015 a0034c0052t0032g0107 a0035c0073t0001g0016	47	116	0.4052	17	c.299 others(38): Show c.299-155529_299-155528insCCCATGGGAAGTGCCAG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3485683	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01516.hp1 HG02559.hp2 others(2): Show HG00558.hp2 HG01516.hp1 HG02559.hp2 HG02602.hp2 HG02922.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0008 a0001c0026 a0001c0027 others(2): Show a0001c0008 a0001c0026 a0001c0027 a0002c0009 a0003c0001	a0001c0008t0004 a0001c0026t0002 a0001c0027t0020 others(2): Show a0001c0008t0004 a0001c0026t0002 a0001c0027t0020 a0002c0009t0004 a0003c0001t0063	a0001c0008t0004g0095 a0001c0026t0002g0086 a0001c0027t0020g0087 others(2): Show a0001c0008t0004g0095 a0001c0026t0002g0086 a0001c0027t0020g0087 a0002c0009t0004g0093 a0003c0001t0063g0033	5	17	0.2941	17	c.299 others(38): Show c.299-133391_299-133375dupTTTTTTTTTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3550180	T T	TATCTTAT others(10): Show TATCTTATACATATATAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0033 a0033	a0033c0051 a0033c0051	a0033c0051t0062 a0033c0051t0062	a0033c0051t0062g0019 a0033c0051t0062g0019	1	116	0.0086	17	c.299 others(36): Show c.299-68899_299-68883dupATCTTATACATATATAA	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(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG02717.hp2 others(1): Show HG01891.hp1 HG02258.hp2 HG02717.hp2 HG03491.hp2	a0001 a0002 a0001 a0002	a0001c0017 a0001c0095 a0002c0030 others(1): Show a0001c0017 a0001c0095 a0002c0030 a0002c0041	a0001c0017t0011 a0001c0095t0029 a0002c0030t0034 others(1): Show a0001c0017t0011 a0001c0095t0029 a0002c0030t0034 a0002c0041t0007	a0001c0017t0011g0052 a0001c0095t0029g0050 a0002c0030t0034g0083 others(1): Show a0001c0017t0011g0052 a0001c0095t0029g0050 a0002c0030t0034g0083 a0002c0041t0007g0108	4	33	0.1212	17	c.299 others(36): Show c.299-36387_299-36371dupAAAAAAAAAAAAAAAAA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3938645	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02965.hp2 HG02976.hp1 others(1): Show HG00738.hp2 HG02965.hp2 HG02976.hp1 NA20300.hp2	a0001 a0001	a0001c0007 a0001c0031 a0001c0071 others(1): Show a0001c0007 a0001c0031 a0001c0071 a0001c0072	a0001c0007t0021 a0001c0031t0001 a0001c0071t0057 others(1): Show a0001c0007t0021 a0001c0031t0001 a0001c0071t0057 a0001c0072t0065	a0001c0007t0021g0110 a0001c0031t0001g0018 a0001c0071t0057g0031 others(1): Show a0001c0007t0021g0110 a0001c0031t0001g0018 a0001c0071t0057g0031 a0001c0072t0065g0027	4	77	0.0519	17	c.848 others(36): Show c.848-12263_848-12262insAAAAAAAAAAAAAAAAA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4012549	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0032 a0001c0007t0003g0032	1	5	0.2000	17	c.242 others(34): Show c.2420+341_2420+357dupTTTTTTTTTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4157474	G G	GAGAGAAG others(10): Show GAGAGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00558.hp1 others(38): Show HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01099.hp1 HG01175.hp1 HG01361.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp2 HG02258.hp1 HG02451.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp2 HG02735.hp1 HG02738.hp1 HG02896.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03688.hp1 HG03710.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp1 NA20752.hp1	a0001 a0002 a0004 others(13): Show a0001 a0002 a0004 a0005 a0007 a0010 a0017 a0018 a0021 a0023 a0027 a0028 a0030 a0032 a0033 a0034	a0001c0002 a0001c0004 a0001c0007 others(32): Show a0001c0002 a0001c0004 a0001c0007 a0001c0011 a0001c0014 a0001c0031 a0001c0034 a0001c0040 a0001c0048 a0001c0060 a0001c0061 a0001c0062 a0001c0064 a0002c0009 a0002c0029 a0002c0030 a0002c0042 a0002c0053 a0004c0003 a0004c0076 a0004c0080 a0005c0055 a0005c0056 a0007c0044 a0010c0079 a0017c0035 a0018c0024 a0021c0068 a0023c0083 a0027c0089 a0028c0018 a0030c0086 a0032c0075 a0033c0051 a0034c0052	a0001c0002t0002 a0001c0002t0004 a0001c0004t0001 others(36): Show a0001c0002t0002 a0001c0002t0004 a0001c0004t0001 a0001c0004t0005 a0001c0007t0021 a0001c0011t0039 a0001c0014t0018 a0001c0031t0001 a0001c0034t0028 a0001c0040t0001 a0001c0048t0001 a0001c0060t0041 a0001c0061t0031 a0001c0062t0053 a0001c0064t0006 a0002c0009t0004 a0002c0009t0056 a0002c0029t0005 a0002c0030t0034 a0002c0042t0002 a0002c0053t0067 a0004c0003t0003 a0004c0003t0052 a0004c0076t0003 a0004c0080t0014 a0005c0055t0055 a0005c0056t0006 a0007c0044t0001 a0010c0079t0054 a0017c0035t0005 a0018c0024t0061 a0021c0068t0014 a0023c0083t0044 a0027c0089t0047 a0028c0018t0071 a0030c0086t0046 a0032c0075t0008 a0033c0051t0062 a0034c0052t0032	a0001c0002t0002g0096 a0001c0002t0004g0104 a0001c0004t0001g0039 others(38): Show a0001c0002t0002g0096 a0001c0002t0004g0104 a0001c0004t0001g0039 a0001c0004t0005g0102 a0001c0007t0021g0110 a0001c0011t0039g0061 a0001c0014t0018g0060 a0001c0014t0018g0062 a0001c0031t0001g0018 a0001c0034t0028g0098 a0001c0040t0001g0040 a0001c0048t0001g0029 a0001c0060t0041g0080 a0001c0061t0031g0100 a0001c0062t0053g0042 a0001c0064t0006g0111 a0002c0009t0004g0093 a0002c0009t0056g0044 a0002c0029t0005g0094 a0002c0030t0034g0083 a0002c0042t0002g0105 a0002c0053t0067g0034 a0004c0003t0003g0070 a0004c0003t0003g0072 a0004c0003t0052g0069 a0004c0076t0003g0073 a0004c0080t0014g0078 a0005c0055t0055g0021 a0005c0056t0006g0097 a0007c0044t0001g0020 a0010c0079t0054g0071 a0017c0035t0005g0058 a0018c0024t0061g0013 a0021c0068t0014g0014 a0023c0083t0044g0004 a0027c0089t0047g0056 a0028c0018t0071g0005 a0030c0086t0046g0012 a0032c0075t0008g0015 a0033c0051t0062g0019 a0034c0052t0032g0107	41	108	0.3796	17	c.462 others(34): Show c.4626-972_4626-971insAGAAGGAAGGAAGGAAG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	30/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4157478	G G	GAAGGAAG others(10): Show GAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0022 a0022	a0022c0094 a0022c0094	a0022c0094t0025 a0022c0094t0025	a0022c0094t0025g0049 a0022c0094t0025g0049	1	67	0.0149	17	c.462 others(34): Show c.4626-962_4626-961insAAGGAAGGAAAGGAAGG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	30/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4193211	T T	TATATATA others(10): Show TATATATATTGTATATTA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0033 a0033	a0033c0051 a0033c0051	a0033c0051t0062 a0033c0051t0062	a0033c0051t0062g0019 a0033c0051t0062g0019	1	116	0.0086	17	c.509 others(38): Show c.5099-12665_5099-12649dupATATATTGTATATTAAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	35/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4217070	A A	ACACCACC others(10): Show ACACCACCCGGAGCACCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp2 HG01123.hp1 others(3): Show HG00738.hp1 HG01099.hp2 HG01123.hp1 HG01516.hp1 HG02615.hp1 HG02738.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0008 a0001c0032 a0001c0039 others(3): Show a0001c0008 a0001c0032 a0001c0039 a0002c0054 a0003c0001 a0006c0016	a0001c0008t0004 a0001c0032t0058 a0001c0039t0050 others(3): Show a0001c0008t0004 a0001c0032t0058 a0001c0039t0050 a0002c0054t0002 a0003c0001t0066 a0006c0016t0003	a0001c0008t0004g0095 a0001c0032t0058g0043 a0001c0039t0050g0022 others(3): Show a0001c0008t0004g0095 a0001c0032t0058g0043 a0001c0039t0050g0022 a0002c0054t0002g0101 a0003c0001t0066g0041 a0006c0016t0003g0068	6	116	0.0517	17	c.554 others(36): Show c.5540-3039_5540-3038insCACCACCCGGAGCACCC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	38/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	4217140	G G	GCCACCCG others(10): Show GCCACCCGGAGCACCACA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0102 a0001c0004t0005g0102	1	113	0.0088	17	c.554 others(36): Show c.5540-2949_5540-2933dupACCCGGAGCACCACACC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	38/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4217168	C C	CACCAGGC others(10): Show CACCAGGCCACCCGGAGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02896.hp1 HG03471.hp1 HG02717.hp1 HG02896.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0040 a0001c0060 a0002c0013 a0001c0040 a0001c0060 a0002c0013	a0001c0040t0001 a0001c0060t0041 a0002c0013t0064 a0001c0040t0001 a0001c0060t0041 a0002c0013t0064	a0001c0040t0001g0040 a0001c0060t0041g0080 a0002c0013t0064g0023 a0001c0040t0001g0040 a0001c0060t0041g0080 a0002c0013t0064g0023	3	109	0.0275	17	c.554 others(36): Show c.5540-2937_5540-2936insGGCCACCCGGAGAACCA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	38/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4217208	G G	GCCACTCG others(10): Show GCCACTCGGAGAACCACA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02647.hp1 HG03516.hp1 HG01891.hp2 HG02647.hp1 HG03516.hp1	a0001 a0005 a0027 a0001 a0005 a0027	a0001c0010 a0005c0065 a0027c0089 a0001c0010 a0005c0065 a0027c0089	a0001c0010t0060 a0005c0065t0037 a0027c0089t0047 a0001c0010t0060 a0005c0065t0037 a0027c0089t0047	a0001c0010t0060g0017 a0005c0065t0037g0065 a0027c0089t0047g0056 a0001c0010t0060g0017 a0005c0065t0037g0065 a0027c0089t0047g0056	3	102	0.0294	17	c.554 others(36): Show c.5540-2897_5540-2896insTCGGAGAACCACACCAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	38/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4217242	G G	GCCACTCG others(10): Show GCCACTCGGAGAACCACA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp2 HG01123.hp1 others(3): Show HG00738.hp1 HG01099.hp2 HG01123.hp1 HG01516.hp1 HG02615.hp1 HG02738.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0008 a0001c0032 a0001c0039 others(3): Show a0001c0008 a0001c0032 a0001c0039 a0002c0054 a0003c0001 a0006c0016	a0001c0008t0004 a0001c0032t0058 a0001c0039t0050 others(3): Show a0001c0008t0004 a0001c0032t0058 a0001c0039t0050 a0002c0054t0002 a0003c0001t0066 a0006c0016t0003	a0001c0008t0004g0095 a0001c0032t0058g0043 a0001c0039t0050g0022 others(3): Show a0001c0008t0004g0095 a0001c0032t0058g0043 a0001c0039t0050g0022 a0002c0054t0002g0101 a0003c0001t0066g0041 a0006c0016t0003g0068	6	116	0.0517	17	c.554 others(36): Show c.5540-2863_5540-2862insTCGGAGAACCACACCAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	38/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4217412	G G	GCCACCCG others(10): Show GCCACCCGGAGAACCACA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02647.hp1 HG03516.hp1 HG01891.hp2 HG02647.hp1 HG03516.hp1	a0001 a0005 a0027 a0001 a0005 a0027	a0001c0010 a0005c0065 a0027c0089 a0001c0010 a0005c0065 a0027c0089	a0001c0010t0060 a0005c0065t0037 a0027c0089t0047 a0001c0010t0060 a0005c0065t0037 a0027c0089t0047	a0001c0010t0060g0017 a0005c0065t0037g0065 a0027c0089t0047g0056 a0001c0010t0060g0017 a0005c0065t0037g0065 a0027c0089t0047g0056	3	107	0.0280	17	c.554 others(36): Show c.5540-2687_5540-2686insAACCACACCACCCGGAG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	38/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73336877	T T	TACAGGGC others(10): Show TACAGGGCTGGCCTTACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp1 HG01081.hp1 HG01243.hp1 others(7): Show HG00738.hp1 HG01081.hp1 HG01243.hp1 HG02818.hp1 HG02976.hp1 HG03195.hp1 HG03239.hp1 HG03579.hp1 HG03688.hp2 HG03834.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0035 a0002c0029 a0002c0059 others(7): Show a0001c0035 a0002c0029 a0002c0059 a0002c0060 a0002c0102 a0002c0103 a0002c0105 a0003c0045 a0004c0080 a0006c0085	a0001c0035t0056 a0002c0029t0045 a0002c0059t0063 others(7): Show a0001c0035t0056 a0002c0029t0045 a0002c0059t0063 a0002c0060t0021 a0002c0102t0021 a0002c0103t0097 a0002c0105t0021 a0003c0045t0098 a0004c0080t0054 a0006c0085t0095	a0001c0035t0056g0066 a0002c0029t0045g0082 a0002c0059t0063g0145 others(7): Show a0001c0035t0056g0066 a0002c0029t0045g0082 a0002c0059t0063g0145 a0002c0060t0021g0144 a0002c0102t0021g0055 a0002c0103t0097g0164 a0002c0105t0021g0149 a0003c0045t0098g0197 a0004c0080t0054g0081 a0006c0085t0095g0043	10	186	0.0538	17	c.17 others(28): Show c.1709_*1710insTGTAAGGCCAGCCCTGT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	45/45	1709		chr17	TogoVar
SDK2_chr17_73329384_73649445	73509902	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01884.hp2 HG01361.hp2 HG01884.hp2	a0002 a0005 a0002 a0005	a0002c0028 a0005c0075 a0002c0028 a0005c0075	a0002c0028t0060 a0005c0075t0020 a0002c0028t0060 a0005c0075t0020	a0002c0028t0060g0018 a0005c0075t0020g0006 a0002c0028t0060g0018 a0005c0075t0020g0006	2	51	0.0392	17	c.65- others(32): Show c.65-2322_65-2306dupTTTTTTTTTTTTTTTTT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SEC14L2_chr22_30392018_30430303	30411742	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03688.hp2 HG02818.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0249 a0001c0001t0003g0168 a0001c0001t0001g0249 a0001c0001t0003g0168	2	14	0.1429	17	c.664 others(34): Show c.664+1066_664+1082dupAAAAAAAAAAAAAAAAA	SEC14L2	ENSG00000100003.18	transcript	ENST00000615189.5	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEC22A_chr3_123196943_123279136	123253510	A A	AAGACCAG others(10): Show AAGACCAGCCTGGCCAAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp1 others(62): Show HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00642.hp1 HG00733.hp1 HG00741.hp1 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01192.hp2 HG01257.hp2 HG01261.hp2 HG01361.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01934.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02080.hp2 HG02129.hp1 HG02135.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02738.hp2 HG02886.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03491.hp2 HG03516.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04228.hp1 NA18747.hp1 NA18951.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18967.hp2 NA18981.hp2 NA18991.hp2 NA19007.hp2 NA19030.hp1 NA19055.hp2 NA19080.hp2 NA19240.hp1 NA20129.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0014 others(2): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0001c0001t0021	a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004 others(59): Show a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0202 a0001c0001t0012g0104 a0001c0001t0012g0128 a0001c0001t0014g0018 a0001c0001t0020g0053 a0001c0001t0021g0014	65	338	0.1923	17	c.658 others(34): Show c.658-5998_658-5997insGAGACCAGCCTGGCCAA	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC22A_chr3_123196943_123279136	123257995	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG01361.hp1 others(3): Show HG00280.hp1 HG00642.hp1 HG01361.hp1 HG02738.hp2 HG03704.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0027 a0001c0001t0003g0029 others(3): Show a0001c0001t0003g0015 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0034 a0001c0001t0003g0063	6	256	0.0234	17	c.658 others(34): Show c.658-1516_658-1515insAAAAAAAAAAAAAAAAA	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC22A_chr3_123196943_123279136	123260131	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03540.hp1 HG03139.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0310 a0001c0001t0001g0287 a0001c0001t0001g0310	2	29	0.0690	17	c.723 others(32): Show c.723+564_723+580dupAAAAAAAAAAAAAAAAA	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC23A_chr14_39026919_39108235	39059278	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	111	0.0090	17	c.150 others(36): Show c.1505+2470_1505+2486dupTTTTTTTTTTTTTTTTT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	13/19			chr14	TogoVar
SEC61G_chr7_54747253_54764211	54760999	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	125	0.0080	17	c.-18 others(28): Show c.-1849_-1848insTTTTTTTTTTTTTTTTT	SEC61G	ENSG00000132432.14	transcript	ENST00000352861.9	protein_coding		1789		chr7	TogoVar
SEC63_chr6_107862756_107963208	107863559	T T	TGCGCGCG others(10): Show TGCGCGCGCGCGCGCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	145	0.0069	17	c.81 others(28): Show c.8144_*8145insGCCGCGCGCGCGCGCGC	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding		4196		chr6	TogoVar
SEC63_chr6_107862756_107963208	107945198	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0049 a0001c0002t0007g0053 a0001c0002t0007g0049 a0001c0002t0007g0053	2	321	0.0062	17	c.124 others(36): Show c.124+12671_124+12687dupTTTTTTTTTTTTTTTTT	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding	1/20			chr6	TogoVar
SECISBP2L_chr15_48983638_49051446	49043957	A A	AAAAAGTG others(10): Show AAAAAGTGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0325 a0001c0001t0006g0325	1	376	0.0027	17	c.24+ others(32): Show c.24+2318_24+2319insAAAAAAAAAACACTTTT	SECISBP2L	ENSG00000138593.9	transcript	ENST00000559471.6	protein_coding	1/17			chr15	TogoVar
SEH1L_chr18_12943011_12992531	12962459	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18999.hp2 NA19000.hp1 others(1): Show HG00621.hp1 NA18999.hp2 NA19000.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0057 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0057 a0001c0001t0001g0066	4	104	0.0385	17	c.310 others(32): Show c.310-691_310-675dupTTTTTTTTTTTTTTTTT	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEH1L_chr18_12943011_12992531	12981850	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0321 a0001c0001t0005g0321	1	149	0.0067	17	c.762 others(32): Show c.762-657_762-641dupTTTTTTTTTTTTTTTTT	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEL1L2_chr20_13844247_13995614	13907742	C C	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	258	0.0039	17	c.549 others(34): Show c.549+6039_549+6040insAGAAAGAAAGAAAGAAA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	5/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13930654	C C	CGCTTAAA others(10): Show CGCTTAAAATATTAAGAT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	322	0.0031	17	c.283 others(32): Show c.283+932_283+948dupATCTTAATATTTTAAGC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	3/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(10): Show CATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18957.hp2 HG00140.hp2 NA18957.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0008 a0002c0002 a0006c0008	a0002c0002t0003 a0006c0008t0003 a0002c0002t0003 a0006c0008t0003	a0002c0002t0003g0222 a0006c0008t0003g0229 a0002c0002t0003g0222 a0006c0008t0003g0229	2	231	0.0087	17	c.115 others(34): Show c.115-2589_115-2573dupATGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13939040	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA20300.hp2 HG00741.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0289 a0001c0001t0001g0206 a0001c0001t0001g0289	2	12	0.1667	17	c.115 others(34): Show c.115-7286_115-7270dupAAAAAAAAAAAAAAAAA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13983023	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG00738.hp2 others(39): Show HG00438.hp2 HG00609.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01358.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG02071.hp2 HG02148.hp2 HG02155.hp1 HG02258.hp2 HG02523.hp2 HG02602.hp1 HG02735.hp2 HG02809.hp1 HG02897.hp2 HG03453.hp1 HG03831.hp1 HG04204.hp1 NA18961.hp1 NA18966.hp2 NA18994.hp2 NA18998.hp2 NA19002.hp2 NA19004.hp2 NA19010.hp2 NA19012.hp1 NA19056.hp1 NA19070.hp2 NA19083.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20805.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0016 others(3): Show a0001c0001 a0001c0003 a0001c0016 a0002c0002 a0002c0009 a0006c0008	a0001c0001t0001 a0001c0001t0006 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0003t0001 a0001c0016t0001 a0002c0002t0003 a0002c0009t0003 a0006c0008t0003	a0001c0001t0001g0090 a0001c0001t0001g0142 a0001c0001t0001g0169 others(39): Show a0001c0001t0001g0090 a0001c0001t0001g0142 a0001c0001t0001g0169 a0001c0001t0001g0201 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0001g0293 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0006g0264 a0001c0003t0001g0213 a0001c0016t0001g0216 a0002c0002t0003g0139 a0002c0002t0003g0258 a0002c0002t0003g0260 a0002c0002t0003g0263 a0002c0002t0003g0268 a0002c0002t0003g0274 a0002c0002t0003g0275 a0002c0002t0003g0308 a0002c0009t0003g0257 a0002c0009t0003g0273 a0006c0008t0003g0221	42	49	0.8571	17	c.58+ others(32): Show c.58+7437_58+7453dupTTTTTTTTTTTTTTTTT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	1/19			chr20	TogoVar
SELENBP1_chr1_151359304_151377705	151360296	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00738.hp2 HG01106.hp1 others(13): Show HG00609.hp1 HG00738.hp2 HG01106.hp1 HG01517.hp1 HG02129.hp2 HG02602.hp1 HG03017.hp1 HG03927.hp2 NA18941.hp1 NA18944.hp2 NA18967.hp2 NA18999.hp1 NA19005.hp1 NA19012.hp2 NA19058.hp2 NA19070.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0013 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0112 a0001c0001t0001g0138 a0001c0001t0001g0155 a0003c0004t0001g0091	16	200	0.0800	17	c.42 others(28): Show c.4246_*4247insAAAAAAAAAAAAAAAAA	SELENBP1	ENSG00000143416.21	transcript	ENST00000368868.10	protein_coding		4007		chr1	TogoVar
SELENBP1_chr1_151359304_151377705	151367355	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	81	0.0123	17	c.482 others(32): Show c.482-452_482-451insCTTTTCTTTTTTTTTTT	SELENBP1	ENSG00000143416.21	transcript	ENST00000368868.10	protein_coding	5/11			chr1	TogoVar
SELENOI_chr2_26341143_26400885	26381198	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02922.hp2 HG02615.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0280 a0001c0001t0010g0281 a0001c0001t0010g0280 a0001c0001t0010g0281	2	23	0.0870	17	c.683 others(34): Show c.683-2086_683-2070dupTTTTTTTTTTTTTTTTT	SELENOI	ENSG00000138018.19	transcript	ENST00000260585.12	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SELENON_chr1_25795193_25823221	25822886	G G	GCCCCCCC others(10): Show GCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0001 a0001c0006t0001g0001	1	390	0.0026	17	c.71 others(28): Show c.7168_*7169insCCCCCCCCCCCCCCCCC	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding		4666	WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr1	TogoVar
SELENOT_chr3_150598321_150635436	150631202	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	2	32	0.0625	17	c.35 others(28): Show c.3573_*3574insAAAAAAAAAAAAAAAAA	SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding		767		chr3	TogoVar
SELENOV_chr19_39510139_39525675	39517964	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01515.hp1 HG01106.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	2	162	0.0123	17	c.810 others(32): Show c.810-633_810-617dupAAAAAAAAAAAAAAAAA	SELENOV	ENSG00000186838.15	transcript	ENST00000335426.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar

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