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
SCN9A_chr2_166190185_166380944	166199975	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp2 HG01167.hp1 others(22): Show HG00642.hp2 HG01081.hp2 HG01167.hp1 HG01192.hp1 HG01255.hp1 HG01361.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG02040.hp2 HG02071.hp1 HG02129.hp1 HG02155.hp2 HG02293.hp2 HG02523.hp2 NA18939.hp1 NA18946.hp2 NA18960.hp2 NA18977.hp1 NA18981.hp2 NA18994.hp2 NA19082.hp1	a0003 a0005 a0010 others(1): Show a0003 a0005 a0010 a0019	a0003c0013 a0003c0014 a0003c0028 others(10): Show a0003c0013 a0003c0014 a0003c0028 a0003c0033 a0003c0052 a0003c0060 a0003c0064 a0005c0016 a0005c0027 a0005c0068 a0010c0048 a0010c0062 a0019c0039	a0003c0013t0003 a0003c0014t0003 a0003c0028t0003 others(11): Show a0003c0013t0003 a0003c0014t0003 a0003c0028t0003 a0003c0033t0003 a0003c0052t0003 a0003c0060t0003 a0003c0064t0003 a0005c0016t0003 a0005c0027t0003 a0005c0027t0020 a0005c0068t0003 a0010c0048t0003 a0010c0062t0003 a0019c0039t0003	a0003c0013t0003g0158 a0003c0013t0003g0159 a0003c0013t0003g0160 others(22): Show a0003c0013t0003g0158 a0003c0013t0003g0159 a0003c0013t0003g0160 a0003c0013t0003g0216 a0003c0014t0003g0054 a0003c0014t0003g0055 a0003c0014t0003g0066 a0003c0014t0003g0085 a0003c0028t0003g0053 a0003c0028t0003g0059 a0003c0033t0003g0220 a0003c0033t0003g0230 a0003c0052t0003g0130 a0003c0060t0003g0273 a0003c0064t0003g0039 a0005c0016t0003g0214 a0005c0016t0003g0221 a0005c0016t0003g0222 a0005c0016t0003g0225 a0005c0027t0003g0119 a0005c0027t0020g0005 a0005c0068t0003g0224 a0010c0048t0003g0234 a0010c0062t0003g0062 a0019c0039t0003g0268	25	44	0.5682	-25	c.477 others(42): Show c.4775-136_4775-112delAAAAAAAAAAAAAAAAAAAAAAAAA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166340590	CTTTCTTT others(18): Show CTTTCTTTCTTTCTTTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0256 a0001c0002t0005g0256	1	294	0.0034	-25	c.-50 others(44): Show c.-50-28809_-50-28785delAAAGAAAGAAAAAGAAAGAAAGAAA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166340591	TTTCTTTC others(18): Show TTTCTTTCTTTCTTTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0204 a0004c0008t0001g0204	1	294	0.0034	-25	c.-50 others(44): Show c.-50-28810_-50-28786delGAAAGAAAGAAAAAGAAAGAAAGAA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26			chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23305524	AATATATA others(18): Show AATATATATATTATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0139 a0001c0003t0001g0139	1	201	0.0050	-25	c.-9+ others(40): Show c.-9+3098_-9+3122delTATATATATATATATATATATATAT	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCP2_chr1_52922276_53056698	52940833	CTCTGCCT others(18): Show CTCTGCCTCCTGGTTCAAGTGATTCT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03139.hp1 HG03453.hp1 others(2): Show HG03130.hp1 HG03139.hp1 HG03453.hp1 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0006 a0001c0004t0008 a0001c0004t0011 a0001c0002t0006 a0001c0004t0008 a0001c0004t0011	a0001c0002t0006g0045 a0001c0002t0006g0046 a0001c0004t0008g0044 others(2): Show a0001c0002t0006g0045 a0001c0002t0006g0046 a0001c0004t0008g0044 a0001c0004t0011g0047 a0001c0004t0011g0048	5	278	0.0180	-25	c.70- others(38): Show c.70-954_70-930delCTGGTTCAAGTGATTCTTCTGCCTC	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCRN3_chr2_174390730_174434575	174398072	AAGCCCTG others(18): Show AAGCCCTGATCATACAACTGCACTCC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG00741.hp1 others(12): Show HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG02055.hp2 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG03491.hp2 HG03492.hp1 HG03831.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0002 a0001c0001t0001 a0002c0004t0002	a0001c0001t0001g0080 a0002c0004t0002g0012 a0002c0004t0002g0025 others(9): Show a0001c0001t0001g0080 a0002c0004t0002g0012 a0002c0004t0002g0025 a0002c0004t0002g0071 a0002c0004t0002g0073 a0002c0004t0002g0074 a0002c0004t0002g0075 a0002c0004t0002g0076 a0002c0004t0002g0077 a0002c0004t0002g0078 a0002c0004t0002g0079 a0002c0004t0002g0081	15	362	0.0414	-25	c.-9- others(38): Show c.-9-198_-9-174delCTGATCATACAACTGCACTCCAGCC	SCRN3	ENSG00000144306.15	transcript	ENST00000272732.11	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCTR_chr2_119434843_119529483	119505227	ACACATAT others(18): Show ACACATATGTTTATTGCAGCGCTATT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18984.hp1 HG00621.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0209 a0001c0001t0002g0184 a0001c0001t0002g0209	2	288	0.0069	-25	c.73- others(42): Show c.73-10704_73-10680delAATAGCGCTGCAATAAACATATGTG	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	1/12			chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43280418	TCCTGTCC others(18): Show TCCTGTCCCTTCCCCTCACCCATCCC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03453.hp1 HG03486.hp1 others(1): Show HG03195.hp1 HG03453.hp1 HG03486.hp1 NA18966.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0008 a0001c0010 a0002c0009 others(1): Show a0001c0008 a0001c0010 a0002c0009 a0003c0007	a0001c0008t0009 a0001c0010t0085 a0002c0009t0024 others(1): Show a0001c0008t0009 a0001c0010t0085 a0002c0009t0024 a0003c0007t0002	a0001c0008t0009g0247 a0001c0010t0085g0270 a0002c0009t0024g0062 others(1): Show a0001c0008t0009g0247 a0001c0010t0085g0270 a0002c0009t0024g0062 a0003c0007t0002g0082	4	277	0.0144	-25	c.484 others(44): Show c.484+10603_484+10627delGGGATGGGTGAGGGGAAGGGACAGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281431	TCCCTTGG others(18): Show TCCCTTGGCCACCCTCCTGTCATCTC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02965.hp1 HG02723.hp1 HG02965.hp1	a0001 a0005 a0001 a0005	a0001c0020 a0005c0031 a0001c0020 a0005c0031	a0001c0020t0004 a0005c0031t0017 a0001c0020t0004 a0005c0031t0017	a0001c0020t0004g0025 a0005c0031t0017g0009 a0001c0020t0004g0025 a0005c0031t0017g0009	2	277	0.0072	-25	c.484 others(42): Show c.484+9590_484+9614delGAGATGACAGGAGGGTGGCCAAGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE3_chr6_35208956_35258079	35217228	GGGGGGGG others(18): Show GGGGGGGGGCGGGGGGGAGGCGCGGC	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0177 a0001c0001t0006g0177	1	287	0.0035	-25	c.85+ others(40): Show c.85+2734_85+2758delCGGGGGGGAGGCGCGGCGGGGGGGG	SCUBE3	ENSG00000146197.9	transcript	ENST00000274938.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCYL1_chr11_65520083_65543704	65524847	GCCCCGCC others(18): Show GCCCCGCCCCTCCCTAGCCCCCCCAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02622.hp1 HG01884.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	2	167	0.0120	-25	c.-30 others(34): Show c.-306_-282delCCCCGCCCCTCCCTAGCCCCCCCAT	SCYL1	ENSG00000142186.18	transcript	ENST00000270176.10	protein_coding		235		chr11	TogoVar
SCYL2_chr12_100262177_100346715	100295673	TGAGAGGG others(18): Show TGAGAGGGAGACCGTGGAAACAGAGG	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	218	0.0046	-25	c.336 others(42): Show c.336-2341_336-2317delAAACAGAGGGAGAGGGAGACCGTGG	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SDF4_chr1_1211931_1237001	1220531	AGAGGTCG others(18): Show AGAGGTCGGGGGGTCCTAGGCACCCT	A A	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	398	0.0025	-25	c.557 others(42): Show c.557-1629_557-1605delAGGGTGCCTAGGACCCCCCGACCTC	SDF4	ENSG00000078808.20	transcript	ENST00000360001.12	protein_coding	4/6			chr1	TogoVar
SDHC_chr1_161309381_161368206	161348882	AAAAAGTC others(18): Show AAAAAGTCTATTTGACTTTTTCCTAT	A A	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	328	0.2744	-25	c.242 others(42): Show c.242-7785_242-7761delTTTGACTTTTTCCTATAAAAGTCTA	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3705425	GATTTTAT others(18): Show GATTTTATTTTATTTTATTTTATTTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp1 HG02976.hp1 others(4): Show HG01891.hp2 HG02622.hp1 HG02976.hp1 HG03041.hp1 HG03209.hp2 NA18522.hp1 NA19030.hp1	a0001 a0005 a0025 a0001 a0005 a0025	a0001c0048 a0001c0049 a0001c0071 others(4): Show a0001c0048 a0001c0049 a0001c0071 a0001c0087 a0001c0093 a0005c0065 a0025c0081	a0001c0048t0001 a0001c0049t0036 a0001c0071t0057 others(4): Show a0001c0048t0001 a0001c0049t0036 a0001c0071t0057 a0001c0087t0009 a0001c0093t0006 a0005c0065t0037 a0025c0081t0008	a0001c0048t0001g0029 a0001c0049t0036g0109 a0001c0071t0057g0031 others(4): Show a0001c0048t0001g0029 a0001c0049t0036g0109 a0001c0071t0057g0031 a0001c0087t0009g0054 a0001c0093t0006g0053 a0005c0065t0037g0065 a0025c0081t0008g0075	7	27	0.2593	-25	c.713 others(44): Show c.713+63366_713+63390delATTTTATTTTATTTTATTTTATTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3842422	ATGGGTAC others(18): Show ATGGGTACTGGGTCACTGTGCTGGCG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp2 HG02896.hp1 others(2): Show HG02145.hp2 HG02723.hp2 HG02896.hp1 HG03195.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0037 a0001c0059 a0001c0060 others(2): Show a0001c0037 a0001c0059 a0001c0060 a0001c0092 a0002c0090	a0001c0037t0002 a0001c0059t0027 a0001c0060t0041 others(2): Show a0001c0037t0002 a0001c0059t0027 a0001c0060t0041 a0001c0092t0048 a0002c0090t0010	a0001c0037t0002g0077 a0001c0059t0027g0090 a0001c0060t0041g0080 others(2): Show a0001c0037t0002g0077 a0001c0059t0027g0090 a0001c0060t0041g0080 a0001c0092t0048g0057 a0002c0090t0010g0047	5	116	0.0431	-25	c.847 others(44): Show c.847+20858_847+20882delGCTGGCGTGGGTACTGGGTCACTGT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4144444	GGCGGTGA others(18): Show GGCGGTGATGACGGTGCTGATGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00558.hp1 others(47): Show HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00639.hp1 HG00738.hp1 HG00738.hp2 HG01099.hp1 HG01123.hp2 HG01175.hp1 HG01516.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp2 HG02145.hp1 HG02559.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG03710.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1	a0001 a0002 a0004 others(12): Show a0001 a0002 a0004 a0005 a0006 a0007 a0010 a0011 a0012 a0020 a0027 a0028 a0029 a0030 a0031	a0001c0002 a0001c0004 a0001c0007 others(39): Show a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0026 a0001c0034 a0001c0037 a0001c0059 a0001c0061 a0001c0062 a0001c0088 a0001c0091 a0001c0093 a0001c0095 a0002c0009 a0002c0013 a0002c0029 a0002c0030 a0002c0041 a0002c0042 a0002c0053 a0002c0054 a0002c0066 a0004c0003 a0004c0076 a0005c0056 a0005c0057 a0005c0058 a0005c0065 a0006c0077 a0007c0044 a0010c0079 a0011c0022 a0012c0015 a0020c0063 a0027c0089 a0028c0018 a0029c0084 a0030c0086 a0031c0069	a0001c0002t0002 a0001c0002t0004 a0001c0002t0040 others(45): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0040 a0001c0004t0001 a0001c0004t0005 a0001c0007t0021 a0001c0008t0004 a0001c0008t0007 a0001c0010t0002 a0001c0011t0008 a0001c0026t0002 a0001c0034t0028 a0001c0037t0002 a0001c0059t0027 a0001c0061t0031 a0001c0062t0053 a0001c0088t0009 a0001c0091t0010 a0001c0093t0006 a0001c0095t0029 a0002c0009t0004 a0002c0009t0056 a0002c0013t0015 a0002c0013t0064 a0002c0029t0005 a0002c0030t0034 a0002c0041t0007 a0002c0042t0002 a0002c0053t0067 a0002c0054t0002 a0002c0066t0023 a0004c0003t0003 a0004c0076t0003 a0005c0056t0006 a0005c0057t0013 a0005c0058t0012 a0005c0065t0037 a0006c0077t0003 a0007c0044t0001 a0010c0079t0054 a0011c0022t0072 a0012c0015t0017 a0020c0063t0007 a0027c0089t0047 a0028c0018t0071 a0029c0084t0045 a0030c0086t0046 a0031c0069t0069	a0001c0002t0002g0096 a0001c0002t0004g0104 a0001c0002t0040g0084 others(47): Show a0001c0002t0002g0096 a0001c0002t0004g0104 a0001c0002t0040g0084 a0001c0004t0001g0039 a0001c0004t0005g0102 a0001c0007t0021g0110 a0001c0008t0004g0095 a0001c0008t0007g0067 a0001c0010t0002g0085 a0001c0011t0008g0028 a0001c0026t0002g0086 a0001c0034t0028g0098 a0001c0037t0002g0077 a0001c0059t0027g0090 a0001c0061t0031g0100 a0001c0062t0053g0042 a0001c0088t0009g0048 a0001c0091t0010g0055 a0001c0093t0006g0053 a0001c0095t0029g0050 a0002c0009t0004g0093 a0002c0009t0056g0044 a0002c0013t0015g0024 a0002c0013t0064g0023 a0002c0029t0005g0094 a0002c0030t0034g0083 a0002c0041t0007g0108 a0002c0042t0002g0105 a0002c0053t0067g0034 a0002c0054t0002g0101 a0002c0066t0023g0088 a0004c0003t0003g0070 a0004c0003t0003g0072 a0004c0076t0003g0073 a0005c0056t0006g0097 a0005c0057t0013g0045 a0005c0058t0012g0063 a0005c0065t0037g0065 a0006c0077t0003g0099 a0007c0044t0001g0020 a0010c0079t0054g0071 a0011c0022t0072g0008 a0012c0015t0017g0059 a0012c0015t0017g0066 a0020c0063t0007g0106 a0027c0089t0047g0056 a0028c0018t0071g0005 a0029c0084t0045g0011 a0030c0086t0046g0012 a0031c0069t0069g0064	50	116	0.4310	-25	c.422 others(44): Show c.4229-1268_4229-1244delACGGTGCTGATGGTGAGCGGTGATG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	28/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEC11A_chr15_84664544_84721139	84700593	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02145.hp1 HG02145.hp2 others(15): Show HG01099.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02572.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp1 HG03041.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03579.hp2 NA18941.hp2 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0133 others(15): Show a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0133 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0293 a0001c0001t0001g0296	18	25	0.7200	-25	c.52- others(40): Show c.52-8974_52-8950delTTTTTTTTTTTTTTTTTTTTTTTTT	SEC11A	ENSG00000140612.14	transcript	ENST00000268220.12	protein_coding	1/5			chr15	TogoVar
SEC13_chr3_10295931_10326112	10323557	AGGTTTGT others(18): Show AGGTTTGTGAAGTCCAGACTCCTCAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02559.hp1 HG02622.hp2 others(8): Show HG00735.hp2 HG02559.hp1 HG02622.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG03139.hp1 HG03453.hp2 HG03579.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0064 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0077	11	378	0.0291	-25	c.-25 others(36): Show c.-2530_-2506delCTGAGGAGTCTGGACTTCACAAACC	SEC13	ENSG00000157020.18	transcript	ENST00000350697.8	protein_coding		2446		chr3	TogoVar
SEC14L1_chr17_77135969_77222101	77180041	TTGTTTTG others(18): Show TTGTTTTGTTATGTTATGTTATGTTA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02145.hp2 HG02559.hp1 others(5): Show HG00639.hp2 HG02145.hp2 HG02559.hp1 HG02630.hp2 HG02717.hp1 HG02965.hp1 HG02970.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0006 a0001c0001t0022 a0001c0005t0011 a0001c0001t0006 a0001c0001t0022 a0001c0005t0011	a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0022g0009 others(3): Show a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0022g0009 a0001c0005t0011g0008 a0001c0005t0011g0178 a0001c0005t0011g0179	8	309	0.0259	-25	c.64- others(42): Show c.64-10757_64-10733delTTGTTATGTTATGTTATGTTATGTT	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L3_chr22_30454229_30477017	30454473	CTATATAA others(18): Show CTATATAATCTATAATAATATTATTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02717.hp1 HG01243.hp2 HG02717.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0007 a0008c0009t0007	a0008c0009t0007g0127 a0008c0009t0007g0145 a0008c0009t0007g0127 a0008c0009t0007g0145	2	437	0.0046	-25	c.55 others(36): Show c.5523_*5547delTAATAATATTATTATAGATTATATA	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4755		chr22	TogoVar
SEC14L5_chr16_4953330_5024157	4962141	GGGCAACA others(18): Show GGGCAACAGAGCGAGACTCTGTCTCA	G G	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	374	0.0027	-25	c.63+ others(40): Show c.63+2756_63+2780delGGCAACAGAGCGAGACTCTGTCTCA	SEC14L5	ENSG00000103184.12	transcript	ENST00000251170.12	protein_coding	2/15			chr16	TogoVar
SEC23A_chr14_39026919_39108235	39094420	ATATATAT others(18): Show ATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	361	0.0028	-25	c.222 others(42): Show c.222-1201_222-1177delAAATATATATATATATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094422	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03471.hp1 HG02258.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0358 a0001c0001t0006g0359 a0001c0001t0006g0358 a0001c0001t0006g0359	2	359	0.0056	-25	c.222 others(42): Show c.222-1203_222-1179delAAAAATATATATATATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC31A_chr4_82813509_82896153	82837174	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	326	0.0031	-25	c.296 others(44): Show c.2968+4941_2968+4965delTATATATATATATATATATATATAT	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SEC63_chr6_107862756_107963208	107910515	TATATATA others(18): Show TATATATACATATATGCATGTCATAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01496.hp1 others(7): Show HG01243.hp1 HG01243.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG02273.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0039 a0001c0001t0001 a0001c0001t0039	a0001c0001t0001g0004 a0001c0001t0001g0108 a0001c0001t0001g0134 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0108 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0226 a0001c0001t0039g0141	10	330	0.0303	-25	c.624 others(40): Show c.624+806_624+830delGTATGACATGCATATATGTATATAT	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding	7/20			chr6	TogoVar
SECISBP2_chr9_89313500_89364663	89340499	TTGTCGTT others(18): Show TTGTCGTTTTGCCTTTTAAAGGGGGC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0239 a0001c0001t0010g0239	1	378	0.0026	-25	c.130 others(42): Show c.1302+550_1302+574delCGTTTTGCCTTTTAAAGGGGGCTGT	SECISBP2	ENSG00000187742.15	transcript	ENST00000375807.8	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
SECTM1_chr17_82316024_82338766	82327933	AGCCCGTC others(18): Show AGCCCGTCCACCAGCCCCCCCACCCT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01081.hp2 HG01109.hp1 others(15): Show HG01070.hp2 HG01081.hp2 HG01109.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01433.hp1 HG01952.hp2 HG02258.hp1 HG02572.hp1 HG02647.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03209.hp2 HG03486.hp2 HG04199.hp2 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0009 a0002c0003t0013 others(5): Show a0002c0003t0003 a0002c0003t0009 a0002c0003t0013 a0002c0003t0014 a0002c0003t0015 a0002c0003t0016 a0002c0003t0017 a0002c0003t0018	a0002c0003t0003g0020 a0002c0003t0003g0021 a0002c0003t0003g0115 others(11): Show a0002c0003t0003g0020 a0002c0003t0003g0021 a0002c0003t0003g0115 a0002c0003t0003g0116 a0002c0003t0003g0120 a0002c0003t0003g0121 a0002c0003t0009g0126 a0002c0003t0009g0127 a0002c0003t0013g0125 a0002c0003t0014g0123 a0002c0003t0015g0122 a0002c0003t0016g0117 a0002c0003t0017g0118 a0002c0003t0018g0119	18	372	0.0484	-25	c.-52 others(40): Show c.-52-666_-52-642delAGGGTGGGGGGGCTGGTGGACGGGC	SECTM1	ENSG00000141574.8	transcript	ENST00000269389.8	protein_coding	1/4			chr17	TogoVar
SELE_chr1_169717640_169739079	169737386	TTATATAT others(18): Show TTATATATATTTATATATTTTATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02818.hp2 HG02976.hp2 others(3): Show HG01891.hp1 HG02818.hp2 HG02976.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1	a0005 a0009 a0005 a0009	a0005c0006 a0009c0014 a0005c0006 a0009c0014	a0005c0006t0002 a0009c0014t0002 a0005c0006t0002 a0009c0014t0002	a0005c0006t0002g0013 a0009c0014t0002g0051 a0005c0006t0002g0013 a0009c0014t0002g0051	6	418	0.0144	-25	c.-34 others(36): Show c.-3489_-3465delTATATAAAATATATAAATATATATA	SELE	ENSG00000007908.16	transcript	ENST00000333360.12	protein_coding		3308		chr1	TogoVar
SEMA3A_chr7_83950777_84199789	83965648	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0087 a0001c0001t0023g0087	1	273	0.0037	-25	c.171 others(44): Show c.1718-2326_1718-2302delAAAAAAATATATATATATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83533554	GATAAAAT others(18): Show GATAAAATAAAATAAAATAAAATAAA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02886.hp1 HG03225.hp1 others(3): Show HG01081.hp2 HG02886.hp1 HG03225.hp1 HG03516.hp1 HG03579.hp2 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0010 a0003c0009 a0001c0001 a0001c0010 a0003c0009	a0001c0001t0024 a0001c0010t0012 a0003c0009t0032 a0001c0001t0024 a0001c0010t0012 a0003c0009t0032	a0001c0001t0024g0213 a0001c0001t0024g0217 a0001c0010t0012g0010 others(3): Show a0001c0001t0024g0213 a0001c0001t0024g0217 a0001c0010t0012g0010 a0001c0010t0012g0011 a0001c0010t0012g0012 a0003c0009t0032g0013	6	117	0.0513	-25	c.116 others(44): Show c.116-43305_116-43281delTTTATTTTATTTTATTTTATTTTAT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83533576	TAAAATAA others(18): Show TAAAATAAAATAAAATAAAATAAATG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00597.hp1 others(73): Show HG00408.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01167.hp1 HG01168.hp2 HG01261.hp1 HG01346.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01928.hp2 HG01934.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02280.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02818.hp1 HG02895.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA18953.hp1 NA18963.hp2 NA18983.hp1 NA18995.hp2 NA19002.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19058.hp2 NA19077.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0002c0004 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0015 a0001c0001t0031 a0001c0001t0044 a0001c0001t0045 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0009 a0001c0002t0020 a0001c0002t0021 a0001c0002t0030 a0001c0002t0039 a0001c0002t0043 a0001c0002t0056 a0001c0002t0068 a0001c0003t0001 a0001c0003t0004 a0001c0006t0004 a0001c0006t0008 a0001c0006t0018 a0001c0006t0041 a0001c0006t0064 a0001c0006t0066 a0001c0008t0036 a0002c0004t0001 a0002c0004t0002 a0003c0009t0063	a0001c0001t0001g0042 a0001c0001t0001g0094 a0001c0001t0001g0095 others(73): Show a0001c0001t0001g0042 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0149 a0001c0001t0002g0086 a0001c0001t0002g0093 a0001c0001t0003g0098 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0156 a0001c0001t0005g0043 a0001c0001t0005g0085 a0001c0001t0005g0090 a0001c0001t0005g0092 a0001c0001t0005g0108 a0001c0001t0008g0186 a0001c0001t0015g0199 a0001c0001t0031g0009 a0001c0001t0044g0105 a0001c0001t0045g0114 a0001c0002t0001g0051 a0001c0002t0001g0059 a0001c0002t0001g0066 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0104 a0001c0002t0001g0120 a0001c0002t0001g0136 a0001c0002t0001g0139 a0001c0002t0001g0144 a0001c0002t0001g0147 a0001c0002t0001g0150 a0001c0002t0003g0065 a0001c0002t0003g0068 a0001c0002t0003g0077 a0001c0002t0003g0078 a0001c0002t0003g0084 a0001c0002t0003g0140 a0001c0002t0003g0141 a0001c0002t0003g0155 a0001c0002t0003g0166 a0001c0002t0005g0146 a0001c0002t0005g0158 a0001c0002t0009g0195 a0001c0002t0020g0112 a0001c0002t0020g0134 a0001c0002t0021g0069 a0001c0002t0021g0159 a0001c0002t0030g0008 a0001c0002t0039g0023 a0001c0002t0043g0162 a0001c0002t0056g0161 a0001c0002t0068g0221 a0001c0003t0001g0035 a0001c0003t0001g0053 a0001c0003t0001g0063 a0001c0003t0001g0071 a0001c0003t0001g0081 a0001c0003t0001g0097 a0001c0003t0001g0103 a0001c0003t0001g0131 a0001c0003t0004g0072 a0001c0006t0004g0145 a0001c0006t0008g0183 a0001c0006t0018g0024 a0001c0006t0041g0026 a0001c0006t0064g0214 a0001c0006t0066g0224 a0001c0008t0036g0022 a0002c0004t0001g0135 a0002c0004t0001g0152 a0002c0004t0002g0045 a0002c0004t0002g0060 a0003c0009t0063g0182	76	224	0.3393	-25	c.116 others(44): Show c.116-43327_116-43303delCATTTATTTTATTTTATTTTATTTT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA4B_chr15_90196330_90234660	90232806	TGAGGCAG others(18): Show TGAGGCAGGAGAATCACTTGAACCCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(271): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0006 others(6): Show a0001 a0002 a0006 a0009 a0010 a0013 a0014 a0015 a0016	a0001c0003 a0001c0005 a0001c0007 others(24): Show a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0017 a0001c0034 a0001c0036 a0001c0040 a0001c0045 a0002c0002 a0002c0004 a0002c0013 a0002c0018 a0002c0021 a0002c0022 a0002c0032 a0002c0033 a0002c0038 a0002c0050 a0006c0012 a0009c0026 a0010c0020 a0013c0042 a0014c0037 a0015c0044 a0016c0031	a0001c0003t0001 a0001c0005t0003 a0001c0005t0011 others(37): Show a0001c0003t0001 a0001c0005t0003 a0001c0005t0011 a0001c0005t0017 a0001c0007t0001 a0001c0007t0004 a0001c0007t0009 a0001c0007t0012 a0001c0007t0018 a0001c0008t0003 a0001c0010t0006 a0001c0017t0003 a0001c0034t0004 a0001c0036t0001 a0001c0040t0006 a0001c0045t0003 a0002c0002t0001 a0002c0002t0004 a0002c0002t0026 a0002c0004t0001 a0002c0004t0004 a0002c0004t0024 a0002c0004t0025 a0002c0013t0001 a0002c0013t0004 a0002c0018t0001 a0002c0021t0004 a0002c0022t0019 a0002c0022t0020 a0002c0032t0004 a0002c0033t0003 a0002c0038t0003 a0002c0050t0004 a0006c0012t0001 a0009c0026t0003 a0010c0020t0001 a0013c0042t0006 a0014c0037t0001 a0015c0044t0001 a0016c0031t0001	a0001c0003t0001g0002 a0001c0003t0001g0005 a0001c0003t0001g0014 others(176): Show a0001c0003t0001g0002 a0001c0003t0001g0005 a0001c0003t0001g0014 a0001c0003t0001g0026 a0001c0003t0001g0054 a0001c0003t0001g0061 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0228 a0001c0003t0001g0229 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0232 a0001c0003t0001g0235 a0001c0003t0001g0237 a0001c0005t0003g0007 a0001c0005t0003g0019 a0001c0005t0003g0020 a0001c0005t0003g0038 a0001c0005t0003g0039 a0001c0005t0003g0041 a0001c0005t0003g0043 a0001c0005t0003g0125 a0001c0005t0003g0127 a0001c0005t0003g0129 a0001c0005t0003g0130 a0001c0005t0003g0136 a0001c0005t0003g0137 a0001c0005t0003g0143 a0001c0005t0003g0144 a0001c0005t0003g0149 a0001c0005t0003g0156 a0001c0005t0003g0169 a0001c0005t0003g0170 a0001c0005t0003g0171 a0001c0005t0003g0206 a0001c0005t0003g0248 a0001c0005t0011g0039 a0001c0005t0011g0140 a0001c0005t0011g0203 a0001c0005t0017g0168 a0001c0007t0001g0002 a0001c0007t0001g0134 a0001c0007t0001g0146 a0001c0007t0001g0219 a0001c0007t0001g0227 a0001c0007t0001g0241 a0001c0007t0001g0246 a0001c0007t0004g0017 a0001c0007t0004g0028 a0001c0007t0004g0128 a0001c0007t0004g0151 a0001c0007t0004g0155 a0001c0007t0004g0160 a0001c0007t0004g0162 a0001c0007t0004g0178 a0001c0007t0004g0247 a0001c0007t0009g0049 a0001c0007t0009g0050 a0001c0007t0009g0213 a0001c0007t0012g0211 a0001c0007t0012g0212 a0001c0007t0018g0060 a0001c0008t0003g0021 a0001c0008t0003g0022 a0001c0008t0003g0142 a0001c0008t0003g0147 a0001c0008t0003g0148 a0001c0008t0003g0150 a0001c0008t0003g0152 a0001c0008t0003g0153 a0001c0008t0003g0174 a0001c0008t0003g0175 a0001c0008t0003g0176 a0001c0010t0006g0015 a0001c0010t0006g0031 a0001c0010t0006g0057 a0001c0010t0006g0058 a0001c0017t0003g0021 a0001c0017t0003g0138 a0001c0017t0003g0139 a0001c0017t0003g0197 a0001c0034t0004g0111 a0001c0036t0001g0183 a0001c0040t0006g0243 a0001c0045t0003g0122 a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0018 a0002c0002t0001g0062 a0002c0002t0001g0066 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0088 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0110 a0002c0002t0001g0116 a0002c0002t0004g0004 a0002c0002t0004g0009 a0002c0002t0004g0033 a0002c0002t0004g0056 a0002c0002t0004g0068 a0002c0002t0004g0069 a0002c0002t0004g0070 a0002c0002t0004g0077 a0002c0002t0004g0082 a0002c0002t0004g0085 a0002c0002t0004g0092 a0002c0002t0004g0095 a0002c0002t0004g0102 a0002c0002t0004g0109 a0002c0002t0004g0112 a0002c0002t0004g0113 a0002c0002t0004g0115 a0002c0002t0004g0250 a0002c0002t0026g0004 a0002c0004t0001g0001 a0002c0004t0001g0003 a0002c0004t0001g0009 a0002c0004t0001g0010 a0002c0004t0001g0012 a0002c0004t0001g0018 a0002c0004t0001g0032 a0002c0004t0001g0067 a0002c0004t0001g0071 a0002c0004t0001g0084 a0002c0004t0001g0087 a0002c0004t0001g0089 a0002c0004t0001g0091 a0002c0004t0001g0097 a0002c0004t0001g0098 a0002c0004t0001g0100 a0002c0004t0001g0101 a0002c0004t0001g0108 a0002c0004t0001g0117 a0002c0004t0004g0004 a0002c0004t0004g0081 a0002c0004t0004g0086 a0002c0004t0004g0090 a0002c0004t0024g0012 a0002c0004t0025g0106 a0002c0013t0001g0249 a0002c0013t0004g0131 a0002c0013t0004g0179 a0002c0013t0004g0181 a0002c0013t0004g0182 a0002c0013t0004g0222 a0002c0018t0001g0107 a0002c0018t0001g0223 a0002c0018t0001g0234 a0002c0021t0004g0001 a0002c0021t0004g0004 a0002c0022t0019g0094 a0002c0022t0020g0083 a0002c0032t0004g0074 a0002c0033t0003g0079 a0002c0038t0003g0180 a0002c0050t0004g0004 a0006c0012t0001g0003 a0006c0012t0001g0093 a0009c0026t0003g0047 a0010c0020t0001g0051 a0013c0042t0006g0015 a0014c0037t0001g0018 a0015c0044t0001g0005 a0016c0031t0001g0003	274	418	0.6555	-25	c.41 others(36): Show c.4164_*4188delGAGGCAGGAGAATCACTTGAACCCG	SEMA4B	ENSG00000185033.15	transcript	ENST00000411539.7	protein_coding		3147		chr15	TogoVar
SEMA4C_chr2_96854718_96875080	96869768	CCAGCCCC others(18): Show CCAGCCCCTGTCCCTCCCGCGTCCGG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	348	0.0029	-25	c.-38 others(39): Show c.-38+83_-38+107delCCGGACGCGGGAGGGACAGGGGCTG	SEMA4C	ENSG00000168758.11	transcript	ENST00000305476.10	protein_coding	1/14			chr2	TogoVar
SEMA5A_chr5_9030033_9551075	9131634	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01257.hp1 HG02602.hp1 others(6): Show HG00738.hp1 HG01257.hp1 HG02602.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03130.hp1 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0023 a0001c0001 a0001c0004 a0001c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0024 a0001c0001t0030 a0001c0001t0066 a0001c0004t0002 a0001c0023t0018	a0001c0001t0001g0019 a0001c0001t0003g0029 a0001c0001t0014g0077 others(6): Show a0001c0001t0001g0019 a0001c0001t0003g0029 a0001c0001t0014g0077 a0001c0001t0024g0025 a0001c0001t0030g0032 a0001c0001t0066g0106 a0001c0004t0002g0120 a0001c0004t0002g0121 a0001c0023t0018g0110	9	132	0.0682	-25	c.159 others(44): Show c.1599+4845_1599+4869delGTTTTTTTTTTTTTTTTTTTTTTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	13/22			chr5	TogoVar
SEMA6A_chr5_116438555_116579823	116544482	GAGATGGG others(18): Show GAGATGGGGGTCTCATTATGTTGCCT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19030.hp2 HG02055.hp1 NA19030.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0003 a0008c0009t0004 a0001c0001t0003 a0008c0009t0004	a0001c0001t0003g0006 a0008c0009t0004g0007 a0001c0001t0003g0006 a0008c0009t0004g0007	2	302	0.0066	-25	c.-39 others(44): Show c.-39+29678_-39+29702delAGGCAACATAATGAGACCCCCATCT	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	1/18			chr5	TogoVar
SEPTIN7_chr7_35796057_35912110	35838323	TCCCTCCC others(18): Show TCCCTCCCTCCCTCCCTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02258.hp2 others(5): Show HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02602.hp2 HG02922.hp1 HG03130.hp2 HG03669.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0037 a0001c0001t0004 a0001c0001t0005 a0001c0001t0037	a0001c0001t0004g0012 a0001c0001t0004g0173 a0001c0001t0004g0176 others(5): Show a0001c0001t0004g0012 a0001c0001t0004g0173 a0001c0001t0004g0176 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0005g0206 a0001c0001t0005g0218 a0001c0001t0037g0205	8	344	0.0233	-25	c.169 others(42): Show c.169+5426_169+5450delCTCCCTCCCTCCCTCCCTCCCTCCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN8_chr5_132745819_132782239	132769833	GGGAATGG others(18): Show GGGAATGGCAGAGAACTGGAGAGCCT	G G	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	324	0.0031	-25	c.31- others(40): Show c.31-4329_31-4305delAGGCTCTCCAGTTCTCTGCCATTCC	SEPTIN8	ENSG00000164402.14	transcript	ENST00000378719.7	protein_coding	1/9			chr5	TogoVar
SERPINA11_chr14_94437464_94457800	94449390	CTCTTTCT others(18): Show CTCTTTCTTTCTTTCTATTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp2 HG00735.hp1 others(8): Show HG00280.hp1 HG00733.hp2 HG00735.hp1 HG01981.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03927.hp1 NA19062.hp1 NA19068.hp2 NA19075.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0005t0001 a0002c0002t0001 a0002c0005t0001	a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0084 others(5): Show a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0084 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0117 a0002c0002t0001g0133 a0002c0005t0001g0033	11	387	0.0284	-25	c.-3- others(38): Show c.-3-638_-3-614delAAGAAAGAATAGAAAGAAAGAAAGA	SERPINA11	ENSG00000186910.4	transcript	ENST00000334708.4	protein_coding	1/4			chr14	TogoVar
SERPINE2_chr2_223970045_224044286	224044121	CTCTTTCT others(18): Show CTCTTTCTTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG03486.hp2 HG03669.hp2 others(1): Show HG02145.hp2 HG03486.hp2 HG03669.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0005 a0001c0001t0001 a0001c0002t0001 a0001c0003t0005	a0001c0001t0001g0082 a0001c0002t0001g0194 a0001c0002t0001g0195 others(1): Show a0001c0001t0001g0082 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0003t0005g0190	4	246	0.0163	-25	c.-50 others(36): Show c.-5070_-5046delAAGAAAGAAAGAAAGAAAAGAAAGA	SERPINE2	ENSG00000135919.14	transcript	ENST00000409304.6	protein_coding		4836		chr2	TogoVar
SETBP1_chr18_44675888_45073510	44703348	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0001 a0009c0017t0001	a0009c0017t0001g0040 a0009c0017t0001g0040	1	38	0.0263	-25	c.486 others(42): Show c.486+1538_486+1562delTTTTTTTTTTTTTTTTTTTTTTTTT	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44986918	AGTATAGT others(18): Show AGTATAGTATAGTATAGTATAGTATT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03486.hp1 HG02647.hp2 HG03486.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0011 a0001c0001 a0011c0011	a0001c0001t0004 a0011c0011t0004 a0001c0001t0004 a0011c0011t0004	a0001c0001t0004g0006 a0011c0011t0004g0124 a0001c0001t0004g0006 a0011c0011t0004g0124	2	138	0.0145	-25	c.400 others(46): Show c.4000+33583_4000+33607delAGTATAGTATAGTATAGTATTGTA T	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETD2_chr3_47011436_47169113	47044344	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0049	1	21	0.0476	-25	c.709 others(44): Show c.7099-1669_7099-1645delTTTTTTTTTTTTTTTTTTTTTTTTT	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	16/20			chr3	TogoVar
SETDB1_chr1_150921363_150969737	150933755	CTTTTTCT others(18): Show CTTTTTCTTTTTCTTTTTCTTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0019 a0001c0021t0001g0019	1	350	0.0029	-25	c.412 others(42): Show c.412+3643_412+3667delCTTTTTCTTTTTCTTTTTCTTTTTT	SETDB1	ENSG00000143379.13	transcript	ENST00000692827.1	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
SF3B3_chr16_70518816_70582668	70581414	TTGGTATT others(18): Show TTGGTATTTGAAGTTATTGTTTTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	340	0.0029	-25	c.96 others(36): Show c.9602_*9626delTGGTATTTGAAGTTATTGTTTTTTC	SF3B3	ENSG00000189091.13	transcript	ENST00000302516.10	protein_coding		3747		chr16	TogoVar
SFMBT2_chr10_7153624_7416034	7393009	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01261.hp2 HG02258.hp1 others(7): Show HG00738.hp2 HG01261.hp2 HG02258.hp1 HG02486.hp2 HG02897.hp1 HG02922.hp1 HG03225.hp1 HG03540.hp1 HG03579.hp2 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0030 a0001c0002t0004 a0001c0002t0012 a0001c0003t0006 a0003c0004t0007	a0001c0001t0002g0047 a0001c0001t0002g0122 a0001c0001t0004g0121 others(7): Show a0001c0001t0002g0047 a0001c0001t0002g0122 a0001c0001t0004g0121 a0001c0001t0008g0143 a0001c0001t0009g0043 a0001c0001t0030g0041 a0001c0002t0004g0042 a0001c0002t0012g0073 a0001c0003t0006g0035 a0003c0004t0007g0040	10	142	0.0704	-25	c.-51 others(44): Show c.-51-11085_-51-11061delATATATATATATATATATATATATA	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	1/20			chr10	TogoVar
SFRP1_chr8_41256962_41314473	41290875	CTCTTCCT others(18): Show CTCTTCCTCGTCTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02683.hp2 NA18968.hp2 others(1): Show HG01081.hp2 HG02683.hp2 NA18968.hp2 NA18969.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0009 a0002c0002t0006 others(1): Show a0001c0001t0004 a0001c0001t0009 a0002c0002t0006 a0002c0002t0032	a0001c0001t0004g0211 a0001c0001t0009g0122 a0002c0002t0006g0273 others(1): Show a0001c0001t0004g0211 a0001c0001t0009g0122 a0002c0002t0006g0273 a0002c0002t0032g0334	4	287	0.0139	-25	c.622 others(44): Show c.622+12561_622+12585delAAAAAAAAAAAAAAGACGAGGAAGA	SFRP1	ENSG00000104332.12	transcript	ENST00000220772.8	protein_coding	2/2			chr8	TogoVar
SFT2D1_chr6_166314728_166347545	166345648	CTGGCTCA others(18): Show CTGGCTCATGGCTCACACTGGGGGAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0001	1	386	0.0026	-25	c.-31 others(36): Show c.-3192_-3168delTTCCCCCAGTGTGAGCCATGAGCCA	SFT2D1	ENSG00000198818.10	transcript	ENST00000361731.4	protein_coding		3104		chr6	TogoVar
SFXN1_chr5_175473560_175534742	175524118	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA19009.hp1 NA18985.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0141 a0001c0001t0003g0217 a0001c0001t0003g0141 a0001c0001t0003g0217	2	311	0.0064	-25	c.872 others(42): Show c.872+1698_872+1722delAAAAAAATATATATATATATATATA	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN1_chr5_175473560_175534742	175524120	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0034 a0001c0001t0005g0034	1	348	0.0029	-25	c.872 others(42): Show c.872+1700_872+1724delAAAAATATATATATATATATATATA	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar

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