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
SPTAN1_chr9_128547587_128638662	128602964	C C	CTACGTTG others(8): Show CTACGTTGTTGAAATG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03669.hp2 HG03688.hp1 others(7): Show HG02040.hp2 HG03669.hp2 HG03688.hp1 NA18975.hp2 NA18988.hp1 NA18998.hp1 NA18999.hp1 NA19057.hp2 NA19081.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0002c0004t0001 a0002c0004t0002 a0001c0002t0001 a0002c0004t0001 a0002c0004t0002	a0001c0002t0001g0195 a0002c0004t0001g0278 a0002c0004t0002g0273 others(7): Show a0001c0002t0001g0195 a0002c0004t0001g0278 a0002c0004t0002g0273 a0002c0004t0002g0274 a0002c0004t0002g0275 a0002c0004t0002g0277 a0002c0004t0002g0279 a0002c0004t0002g0280 a0002c0004t0002g0282 a0002c0004t0002g0283	10	306	0.0327	15	c.358 others(32): Show c.3580-535_3580-521dupTGTACGTTGTTGAAA	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	27/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54466561	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0110 a0001c0004t0007g0110	1	251	0.0040	15	c.-48 others(34): Show c.-48+10075_-48+10089dupAAAAAAAAAAAAAAA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54530353	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19082.hp2 NA19005.hp2 NA19082.hp2	a0001 a0010 a0001 a0010	a0001c0004 a0010c0032 a0001c0004 a0010c0032	a0001c0004t0004 a0010c0032t0004 a0001c0004t0004 a0010c0032t0004	a0001c0004t0004g0210 a0010c0032t0004g0327 a0001c0004t0004g0210 a0010c0032t0004g0327	2	66	0.0303	15	c.148 others(32): Show c.148+3796_148+3810dupTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54562527	C C	CTTTTTCT others(8): Show CTTTTTCTTTTTTTCT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0050 a0001c0005t0008g0050	1	368	0.0027	15	c.148 others(34): Show c.148+35974_148+35975insCTTTTTTCTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54562533	C C	CTTTTTTT others(8): Show CTTTTTTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(140): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00609.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG01981.hp1 HG02015.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18945.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18964.hp2 NA18977.hp1 NA18982.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp1 NA19000.hp2 NA19005.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp2 NA19062.hp2 NA19064.hp2 NA19067.hp1 NA19082.hp2 NA19083.hp2 NA19086.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0007 a0009 a0010	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0014 a0001c0019 a0001c0025 a0001c0026 a0001c0033 a0003c0027 a0005c0030 a0007c0031 a0009c0024 a0010c0032	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(45): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0014 a0001c0001t0019 a0001c0001t0044 a0001c0001t0050 a0001c0001t0051 a0001c0002t0001 a0001c0002t0006 a0001c0003t0003 a0001c0003t0004 a0001c0003t0009 a0001c0003t0024 a0001c0003t0027 a0001c0003t0032 a0001c0003t0033 a0001c0003t0036 a0001c0004t0002 a0001c0004t0004 a0001c0004t0007 a0001c0004t0010 a0001c0004t0035 a0001c0005t0003 a0001c0005t0008 a0001c0005t0011 a0001c0005t0012 a0001c0005t0021 a0001c0005t0025 a0001c0005t0031 a0001c0005t0034 a0001c0005t0043 a0001c0008t0026 a0001c0009t0007 a0001c0011t0003 a0001c0011t0023 a0001c0012t0016 a0001c0014t0001 a0001c0014t0037 a0001c0019t0012 a0001c0025t0003 a0001c0026t0006 a0001c0033t0007 a0003c0027t0003 a0005c0030t0030 a0007c0031t0004 a0009c0024t0009 a0010c0032t0004	a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 others(140): Show a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0223 a0001c0001t0004g0072 a0001c0001t0007g0292 a0001c0001t0007g0294 a0001c0001t0007g0348 a0001c0001t0014g0104 a0001c0001t0014g0105 a0001c0001t0014g0280 a0001c0001t0019g0031 a0001c0001t0019g0185 a0001c0001t0019g0241 a0001c0001t0044g0297 a0001c0001t0050g0076 a0001c0001t0051g0242 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0117 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0006g0089 a0001c0003t0003g0008 a0001c0003t0003g0036 a0001c0003t0003g0037 a0001c0003t0003g0073 a0001c0003t0003g0074 a0001c0003t0003g0113 a0001c0003t0003g0138 a0001c0003t0003g0139 a0001c0003t0003g0177 a0001c0003t0003g0256 a0001c0003t0003g0261 a0001c0003t0003g0262 a0001c0003t0003g0284 a0001c0003t0003g0304 a0001c0003t0003g0305 a0001c0003t0003g0319 a0001c0003t0003g0355 a0001c0003t0003g0356 a0001c0003t0003g0357 a0001c0003t0003g0360 a0001c0003t0004g0024 a0001c0003t0009g0227 a0001c0003t0009g0233 a0001c0003t0009g0234 a0001c0003t0009g0235 a0001c0003t0009g0236 a0001c0003t0009g0237 a0001c0003t0024g0362 a0001c0003t0024g0363 a0001c0003t0027g0053 a0001c0003t0027g0054 a0001c0003t0032g0321 a0001c0003t0033g0172 a0001c0003t0036g0361 a0001c0004t0002g0161 a0001c0004t0004g0068 a0001c0004t0004g0069 a0001c0004t0004g0070 a0001c0004t0004g0071 a0001c0004t0004g0098 a0001c0004t0004g0107 a0001c0004t0004g0129 a0001c0004t0004g0132 a0001c0004t0004g0133 a0001c0004t0004g0163 a0001c0004t0004g0170 a0001c0004t0004g0194 a0001c0004t0004g0195 a0001c0004t0004g0196 a0001c0004t0004g0201 a0001c0004t0004g0202 a0001c0004t0004g0203 a0001c0004t0004g0210 a0001c0004t0004g0216 a0001c0004t0004g0264 a0001c0004t0004g0265 a0001c0004t0004g0266 a0001c0004t0004g0267 a0001c0004t0004g0277 a0001c0004t0004g0316 a0001c0004t0004g0318 a0001c0004t0004g0358 a0001c0004t0007g0057 a0001c0004t0007g0110 a0001c0004t0007g0173 a0001c0004t0010g0109 a0001c0004t0010g0175 a0001c0004t0010g0315 a0001c0004t0010g0342 a0001c0004t0035g0042 a0001c0005t0003g0004 a0001c0005t0003g0005 a0001c0005t0003g0047 a0001c0005t0003g0183 a0001c0005t0003g0184 a0001c0005t0003g0190 a0001c0005t0003g0191 a0001c0005t0008g0041 a0001c0005t0008g0048 a0001c0005t0008g0049 a0001c0005t0008g0062 a0001c0005t0008g0176 a0001c0005t0008g0269 a0001c0005t0008g0368 a0001c0005t0011g0038 a0001c0005t0011g0051 a0001c0005t0011g0253 a0001c0005t0011g0254 a0001c0005t0012g0370 a0001c0005t0021g0040 a0001c0005t0021g0052 a0001c0005t0025g0240 a0001c0005t0025g0250 a0001c0005t0031g0182 a0001c0005t0034g0003 a0001c0005t0043g0039 a0001c0008t0026g0364 a0001c0009t0007g0285 a0001c0009t0007g0286 a0001c0011t0003g0171 a0001c0011t0003g0228 a0001c0011t0003g0268 a0001c0011t0023g0229 a0001c0011t0023g0230 a0001c0012t0016g0135 a0001c0012t0016g0152 a0001c0012t0016g0181 a0001c0014t0001g0014 a0001c0014t0001g0029 a0001c0014t0037g0011 a0001c0019t0012g0246 a0001c0019t0012g0252 a0001c0025t0003g0352 a0001c0026t0006g0102 a0001c0033t0007g0248 a0003c0027t0003g0075 a0005c0030t0030g0174 a0007c0031t0004g0063 a0009c0024t0009g0232 a0010c0032t0004g0327	143	239	0.5983	15	c.148 others(34): Show c.148+35974_148+35975insCTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54576055	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01071.hp2 HG01496.hp2 others(9): Show HG00323.hp1 HG01071.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01981.hp1 HG02280.hp1 HG02602.hp2 NA18940.hp2 NA18955.hp1 NA19055.hp1 NA20129.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0004 a0001c0033 others(1): Show a0001c0001 a0001c0004 a0001c0033 a0007c0031	a0001c0001t0004 a0001c0001t0019 a0001c0004t0004 others(4): Show a0001c0001t0004 a0001c0001t0019 a0001c0004t0004 a0001c0004t0007 a0001c0004t0035 a0001c0033t0007 a0007c0031t0004	a0001c0001t0004g0072 a0001c0001t0019g0185 a0001c0004t0004g0069 others(9): Show a0001c0001t0004g0072 a0001c0001t0019g0185 a0001c0004t0004g0069 a0001c0004t0004g0129 a0001c0004t0004g0163 a0001c0004t0004g0202 a0001c0004t0004g0216 a0001c0004t0004g0267 a0001c0004t0007g0173 a0001c0004t0035g0042 a0001c0033t0007g0248 a0007c0031t0004g0063	12	140	0.0857	15	c.149 others(34): Show c.149-23034_149-23020dupTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54581577	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0262 a0001c0003t0003g0262	1	63	0.0159	15	c.149 others(34): Show c.149-17506_149-17492dupTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54594833	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0070 a0001c0004t0004g0070	1	92	0.0109	15	c.149 others(32): Show c.149-4255_149-4241dupTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN4_chr19_40462001_40581464	40558947	T T	TATGATGA others(8): Show TATGATGATGATGATG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0017 a0017	a0017c0052 a0017c0052	a0017c0052t0001 a0017c0052t0001	a0017c0052t0001g0125 a0017c0052t0001g0125	1	232	0.0043	15	c.567 others(34): Show c.5671-1208_5671-1207insTGATGATGATGATGA	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	26/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTB_chr14_64741283_64884907	64751927	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03492.hp1 HG03453.hp2 HG03492.hp1	a0003 a0009 a0003 a0009	a0003c0030 a0009c0020 a0003c0030 a0009c0020	a0003c0030t0012 a0009c0020t0001 a0003c0030t0012 a0009c0020t0001	a0003c0030t0012g0164 a0009c0020t0001g0197 a0003c0030t0012g0164 a0009c0020t0001g0197	2	152	0.0132	15	c.660 others(34): Show c.6602+1595_6602+1609dupTTTTTTTTTTTTTTT	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	33/35			chr14	TogoVar
SPTLC1_chr9_92026147_92120413	92050811	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18947.hp2 NA18950.hp2 others(6): Show HG02015.hp2 NA18947.hp2 NA18950.hp2 NA18977.hp2 NA18987.hp2 NA19000.hp1 NA19012.hp1 NA19074.hp1 NA19090.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0001 a0001c0001t0001 a0003c0007t0001	a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0129 others(6): Show a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0286 a0003c0007t0001g0287	9	93	0.0968	15	c.781 others(30): Show c.781-759_781-745dupAAAAAAAAAAAAAAA	SPTLC1	ENSG00000090054.16	transcript	ENST00000262554.7	protein_coding	8/14			chr9	TogoVar
SPTLC2_chr14_77500997_77621637	77529620	C C	CTTTCTTT others(8): Show CTTTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA18986.hp2 HG00735.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0081 a0001c0001t0001g0009 a0001c0001t0001g0081	2	27	0.0741	15	c.130 others(34): Show c.1304-8040_1304-8039insAAAAAAAAAAAGAAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77531420	T T	TTTCTTCT others(8): Show TTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02818.hp2 HG03195.hp2 others(2): Show HG01891.hp1 HG02818.hp2 HG03195.hp2 HG03486.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0010 a0001c0002t0020 a0001c0002t0005 a0001c0002t0010 a0001c0002t0020	a0001c0002t0005g0075 a0001c0002t0005g0076 a0001c0002t0010g0065 others(2): Show a0001c0002t0005g0075 a0001c0002t0005g0076 a0001c0002t0010g0065 a0001c0002t0010g0066 a0001c0002t0020g0002	5	217	0.0230	15	c.130 others(34): Show c.1304-9854_1304-9840dupGAAGAAGAAGAAGAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77531443	T T	TCTTCTTC others(8): Show TCTTCTTCTTCTTCTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03195.hp1 HG03098.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0043 a0001c0003t0017 a0001c0001t0043 a0001c0003t0017	a0001c0001t0043g0026 a0001c0003t0017g0063 a0001c0001t0043g0026 a0001c0003t0017g0063	2	219	0.0091	15	c.130 others(34): Show c.1304-9863_1304-9862insGAGAAGAAGAAGAAG	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77531469	T T	TCCTCCTC others(8): Show TCCTCCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0110 a0001c0001t0004g0110	1	231	0.0043	15	c.130 others(34): Show c.1304-9889_1304-9888insGGGAGGGGGAGGAGG	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77563941	G G	GTTAAAAA others(8): Show GTTAAAAATGTACAGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02717.hp1 HG02145.hp2 HG02717.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0038 a0001c0005t0007 a0001c0005t0038	a0001c0005t0007g0242 a0001c0005t0038g0138 a0001c0005t0007g0242 a0001c0005t0038g0138	2	244	0.0082	15	c.757 others(32): Show c.757-1467_757-1453dupTCTGTACATTTTTAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	5/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77587759	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02293.hp2 HG02523.hp1 others(4): Show HG01167.hp2 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG03654.hp2 NA18522.hp1 NA18981.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0001c0001t0005 a0002c0007t0042 a0001c0001t0001 a0001c0001t0005 a0002c0007t0042	a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0148 others(4): Show a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0158 a0001c0001t0005g0175 a0001c0001t0005g0178 a0002c0007t0042g0128	7	137	0.0511	15	c.328 others(32): Show c.328-8665_328-8651dupATTATTATTATTATT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	2/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77608919	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0226 a0001c0001t0003g0226	1	53	0.0189	15	c.132 others(32): Show c.132+7514_132+7528dupATTATTATTATTATT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	1/11			chr14	TogoVar
SPTLC3_chr20_13003972_13174103	13080511	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0168 a0001c0003t0005g0168	1	99	0.0101	15	c.607 others(32): Show c.607+6024_607+6025insAAAAAAAAAAAAAAA	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTSSA_chr14_34427788_34467240	34443171	G G	GTGTGTGT others(8): Show GTGTGTGTGTGTGTTT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA19068.hp2 NA18972.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0061 a0001c0001t0002g0063	2	192	0.0104	15	c.113 others(32): Show c.113-7868_113-7867insAAACACACACACACA	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443172	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	340	0.0029	15	c.113 others(32): Show c.113-7869_113-7868insCACACACACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443506	G G	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	164	0.0061	15	c.113 others(32): Show c.113-8203_113-8202insACACACACACACACA	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34456948	A A	AATTATTA others(8): Show AATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02965.hp2 HG03209.hp1 others(1): Show HG02280.hp1 HG02965.hp2 HG03209.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0029 a0001c0002t0006g0030 a0001c0002t0006g0031 others(1): Show a0001c0002t0006g0029 a0001c0002t0006g0030 a0001c0002t0006g0031 a0001c0002t0006g0032	4	234	0.0171	15	c.112 others(32): Show c.112+5133_112+5147dupAATAATAATAATAAT	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTY2D1_chr11_18601403_18639342	18621323	C C	CAGAAAAG others(8): Show CAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01109.hp1 HG01123.hp2 others(15): Show HG00738.hp2 HG01109.hp1 HG01123.hp2 HG01515.hp1 HG01517.hp2 HG01993.hp1 HG02148.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG03710.hp1 NA18975.hp2 NA18984.hp2 NA18997.hp2 NA19012.hp2 NA19063.hp2 NA19065.hp1 NA19078.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0001c0015 others(1): Show a0001c0001 a0001c0005 a0001c0015 a0003c0004	a0001c0001t0001 a0001c0005t0007 a0001c0015t0019 others(1): Show a0001c0001t0001 a0001c0005t0007 a0001c0015t0019 a0003c0004t0005	a0001c0001t0001g0045 a0001c0001t0001g0262 a0001c0001t0001g0314 others(13): Show a0001c0001t0001g0045 a0001c0001t0001g0262 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0326 a0001c0001t0001g0341 a0001c0001t0001g0352 a0001c0001t0001g0355 a0001c0005t0007g0368 a0001c0015t0019g0339 a0003c0004t0005g0022 a0003c0004t0005g0146 a0003c0004t0005g0147	18	88	0.2045	15	c.61- others(30): Show c.61-4349_61-4335dupTTTCTTTTCTTTTCT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SPTY2D1_chr11_18601403_18639342	18622086	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG02132.hp1 others(2): Show HG00438.hp1 HG00544.hp2 HG02132.hp1 NA18945.hp2 NA18980.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0002c0003t0001	a0001c0001t0001g0298 a0001c0001t0004g0040 a0001c0001t0010g0261 others(1): Show a0001c0001t0001g0298 a0001c0001t0004g0040 a0001c0001t0010g0261 a0002c0003t0001g0070	5	204	0.0245	15	c.61- others(30): Show c.61-5112_61-5098dupTTTTTTTTTTTTTTT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SQLE_chr8_124993505_125027283	125025858	A A	ACACACAC others(8): Show ACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0197 a0001c0001t0006g0197	1	376	0.0027	15	c.39 others(26): Show c.3913_*3914insCACACACACACACAC	SQLE	ENSG00000104549.12	transcript	ENST00000265896.10	protein_coding		3576		chr8	TogoVar
SQOR_chr15_45630029_45696281	45661289	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA20905.hp2 NA18984.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0202 a0001c0001t0001g0168 a0001c0001t0001g0202	2	122	0.0164	15	c.235 others(30): Show c.235-666_235-665insAAAAAAAAAAAAAAA	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	2/9			chr15	TogoVar
SRBD1_chr2_45383680_45616267	45415672	G G	GGGAGGGG others(8): Show GGGAGGGGACGGGAGA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01978.hp1 NA18944.hp2 others(8): Show HG01975.hp1 HG01978.hp1 NA18944.hp2 NA18948.hp1 NA18950.hp2 NA18953.hp2 NA18959.hp1 NA18987.hp1 NA18994.hp2 NA19012.hp1 NA19086.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0056 a0003c0003t0001g0059 others(8): Show a0003c0003t0001g0004 a0003c0003t0001g0056 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0001g0065 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0070 a0003c0003t0001g0114	11	342	0.0322	15	c.233 others(34): Show c.2334-2380_2334-2379insTCTCCCGTCCCCTCC	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45415687	G G	GGGAGAGG others(8): Show GGGAGAGGAGAGGAGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02647.hp1 NA19030.hp2 HG02145.hp1 HG02647.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0074 a0001c0001t0001g0188 a0001c0001t0001g0189	3	214	0.0140	15	c.233 others(34): Show c.2334-2409_2334-2395dupTCTCCTCTCCTCTCC	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45415687	G G	GGGAGGGG others(8): Show GGGAGGGGACGGGAGA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0347 a0001c0001t0001g0347	1	212	0.0047	15	c.233 others(34): Show c.2334-2395_2334-2394insTCTCCCGTCCCCTCC	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45415728	G G	GGAGAGGA others(8): Show GGAGAGGAGAGGAGAC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	332	0.0030	15	c.233 others(34): Show c.2334-2436_2334-2435insGTCTCCTCTCCTCTC	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45415748	C C	CGAGAGGA others(8): Show CGAGAGGAGAGGAGAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02257.hp1 NA18942.hp1 others(1): Show HG01433.hp2 HG02257.hp1 NA18942.hp1 NA18982.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0010 a0003c0003 a0001c0001 a0002c0010 a0003c0003	a0001c0001t0001 a0002c0010t0001 a0003c0003t0001 a0001c0001t0001 a0002c0010t0001 a0003c0003t0001	a0001c0001t0001g0040 a0002c0010t0001g0177 a0003c0003t0001g0276 others(1): Show a0001c0001t0001g0040 a0002c0010t0001g0177 a0003c0003t0001g0276 a0003c0003t0001g0289	4	186	0.0215	15	c.233 others(34): Show c.2334-2470_2334-2456dupCTCTCCTCTCCTCTC	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45545283	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	1	119	0.0084	15	c.187 others(34): Show c.1874+1434_1874+1448dupTTTTTTTTTTTTTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	14/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45586992	T T	TAAATTAT others(8): Show TAAATTATAAATATTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp2 HG00735.hp2 others(5): Show HG00408.hp1 HG00642.hp2 HG00735.hp2 HG01109.hp1 HG01255.hp1 HG02258.hp1 HG03225.hp2 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0001 a0002c0008t0001 a0002c0002t0001 a0002c0008t0001	a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 others(5): Show a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0023 a0002c0002t0001g0093 a0002c0002t0001g0337 a0002c0002t0001g0339 a0002c0008t0001g0123	8	355	0.0225	15	c.649 others(32): Show c.649-1219_649-1218insTAATATTTATAATTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SRCIN1_chr17_38525031_38610952	38566838	G G	GTGTTTTG others(8): Show GTGTTTTGTTTTGTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02896.hp2 HG02922.hp2 others(2): Show HG02109.hp2 HG02896.hp2 HG02922.hp2 HG03453.hp2 NA18906.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0034 a0001c0006t0011 a0001c0006t0034	a0001c0006t0011g0084 a0001c0006t0011g0111 a0001c0006t0011g0124 others(2): Show a0001c0006t0011g0084 a0001c0006t0011g0111 a0001c0006t0011g0124 a0001c0006t0011g0179 a0001c0006t0034g0123	5	199	0.0251	15	c.345 others(32): Show c.345+1358_345+1372dupAAACAAAACAAAACA	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	3/18			chr17	TogoVar
SRCIN1_chr17_38525031_38610952	38572608	T T	TCCCCCCC others(8): Show TCCCCCCCGCCCCCCC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0248 a0001c0001t0052g0248	1	260	0.0038	15	c.325 others(32): Show c.325-4378_325-4377insGGGGGGGCGGGGGGG	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	2/18			chr17	TogoVar
SRC_chr20_37341140_37411050	37404021	C C	CACTTCCT others(8): Show CACTTCCTTGCCCCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0147 a0001c0001t0027g0147	1	280	0.0036	15	c.64 others(24): Show c.643_*657dupACTTCCTTGCCCCCA	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	14/14	658	INFO_REALIGN_3_PRIME	chr20	TogoVar
SRD5A3_chr4_55341242_55378100	55356000	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	40	0.0250	15	c.222 others(32): Show c.222-3334_222-3320dupTTTTTTTTTTTTTTT	SRD5A3	ENSG00000128039.13	transcript	ENST00000264228.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SREBF2_chr22_41828105_41912305	41829439	A A	ACTACCTG others(8): Show ACTACCTGATAATTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0173 a0001c0001t0017g0173	1	334	0.0030	15	c.-38 others(26): Show c.-3832_-3831insCTACCTGATAATTCT	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding		3665		chr22	TogoVar
SREBF2_chr22_41828105_41912305	41844027	A A	AAATACAC others(8): Show AAATACACACACACAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0148 a0002c0002t0002g0148	1	332	0.0030	15	c.88+ others(32): Show c.88+10670_88+10671insATACACACACACACA	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
SRFBP1_chr5_121956975_122033633	121961746	C C	CACACACA others(8): Show CACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	73	0.0137	15	c.-28 others(24): Show c.-287_-286insACACACACACACACA	SRFBP1	ENSG00000151304.6	transcript	ENST00000339397.5	protein_coding		228		chr5	TogoVar
SRFBP1_chr5_121956975_122033633	121968874	C C	CAGATATA others(8): Show CAGATATACTTAGATT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01243.hp2 HG01255.hp1 others(31): Show HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01433.hp1 HG01928.hp1 HG02055.hp1 HG02132.hp1 HG02165.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02886.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03704.hp2 HG06807.hp2 NA18941.hp1 NA18945.hp1 NA18957.hp2 NA18980.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA18987.hp1 NA18989.hp2 NA18993.hp2 NA18995.hp1 NA19074.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp2 NA21309.hp1	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0003 a0002c0005 a0002c0014 others(3): Show a0002c0003 a0002c0005 a0002c0014 a0002c0015 a0004c0006 a0006c0009	a0002c0003t0001 a0002c0003t0002 a0002c0005t0005 others(4): Show a0002c0003t0001 a0002c0003t0002 a0002c0005t0005 a0002c0014t0010 a0002c0015t0001 a0004c0006t0001 a0006c0009t0001	a0002c0003t0001g0197 a0002c0003t0002g0002 a0002c0003t0002g0027 others(28): Show a0002c0003t0001g0197 a0002c0003t0002g0002 a0002c0003t0002g0027 a0002c0003t0002g0028 a0002c0003t0002g0029 a0002c0003t0002g0030 a0002c0003t0002g0031 a0002c0003t0002g0032 a0002c0003t0002g0033 a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0036 a0002c0003t0002g0037 a0002c0003t0002g0038 a0002c0003t0002g0039 a0002c0005t0005g0022 a0002c0005t0005g0023 a0002c0005t0005g0024 a0002c0005t0005g0025 a0002c0005t0005g0199 a0002c0005t0005g0200 a0002c0005t0005g0201 a0002c0014t0010g0048 a0002c0015t0001g0050 a0004c0006t0001g0044 a0004c0006t0001g0045 a0004c0006t0001g0046 a0004c0006t0001g0047 a0006c0009t0001g0017 a0006c0009t0001g0018 a0006c0009t0001g0049	34	226	0.1504	15	c.37- others(30): Show c.37-5322_37-5321insAGATATACTTAGATT	SRFBP1	ENSG00000151304.6	transcript	ENST00000339397.5	protein_coding	1/7			chr5	TogoVar
SRFBP1_chr5_121956975_122033633	121994995	T T	TGCACCCA others(8): Show TGCACCCAATACAGGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01433.hp1 HG01928.hp1 others(24): Show HG01255.hp1 HG01433.hp1 HG01928.hp1 HG02132.hp1 HG02165.hp2 HG02280.hp2 HG02559.hp1 HG02886.hp2 HG03486.hp1 HG03540.hp1 HG03704.hp2 NA18941.hp1 NA18945.hp1 NA18957.hp2 NA18980.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA18987.hp1 NA18989.hp2 NA18993.hp2 NA18995.hp1 NA19074.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0003 a0002c0014 a0002c0015 others(2): Show a0002c0003 a0002c0014 a0002c0015 a0004c0006 a0006c0009	a0002c0003t0001 a0002c0003t0002 a0002c0014t0010 others(3): Show a0002c0003t0001 a0002c0003t0002 a0002c0014t0010 a0002c0015t0001 a0004c0006t0001 a0006c0009t0001	a0002c0003t0001g0197 a0002c0003t0002g0002 a0002c0003t0002g0027 others(21): Show a0002c0003t0001g0197 a0002c0003t0002g0002 a0002c0003t0002g0027 a0002c0003t0002g0028 a0002c0003t0002g0029 a0002c0003t0002g0030 a0002c0003t0002g0031 a0002c0003t0002g0032 a0002c0003t0002g0033 a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0036 a0002c0003t0002g0037 a0002c0003t0002g0038 a0002c0003t0002g0039 a0002c0014t0010g0048 a0002c0015t0001g0050 a0004c0006t0001g0044 a0004c0006t0001g0045 a0004c0006t0001g0046 a0004c0006t0001g0047 a0006c0009t0001g0017 a0006c0009t0001g0018 a0006c0009t0001g0049	27	226	0.1195	15	c.270 others(30): Show c.270+332_270+333insATACAGGAGCACCCA	SRFBP1	ENSG00000151304.6	transcript	ENST00000339397.5	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SRGAP1_chr12_63839700_64167217	63842221	C C	CATTTTTT others(8): Show CATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG02132.hp1 HG02647.hp2 others(9): Show HG01978.hp2 HG02132.hp1 HG02647.hp2 HG02922.hp2 HG03017.hp1 HG03195.hp2 HG03490.hp1 NA18951.hp1 NA18968.hp1 NA18988.hp2 NA19057.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0003c0005	a0001c0001t0082 a0001c0001t0092 a0001c0001t0096 others(9): Show a0001c0001t0082 a0001c0001t0092 a0001c0001t0096 a0001c0001t0109 a0001c0001t0127 a0001c0001t0141 a0001c0002t0028 a0001c0002t0038 a0001c0002t0040 a0001c0002t0049 a0002c0004t0090 a0003c0005t0136	a0001c0001t0082g0037 a0001c0001t0092g0033 a0001c0001t0096g0022 others(9): Show a0001c0001t0082g0037 a0001c0001t0092g0033 a0001c0001t0096g0022 a0001c0001t0109g0030 a0001c0001t0127g0031 a0001c0001t0141g0002 a0001c0002t0028g0028 a0001c0002t0038g0029 a0001c0002t0040g0034 a0001c0002t0049g0024 a0002c0004t0090g0032 a0003c0005t0136g0038	12	93	0.1290	15	c.-25 others(26): Show c.-2596_-2595insATTTTTTTTTTTTTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding		2478		chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63842244	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0163 a0001c0001t0068g0163	1	166	0.0060	15	c.-25 others(26): Show c.-2573_-2572insTTTTTTTTTTTTTTC	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding		2455		chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63949012	T T	TCATATAT others(8): Show TCATATATGTATTTTC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0149 a0001c0001t0011g0149	1	146	0.0068	15	c.68- others(32): Show c.68-34852_68-34838dupGTATTTTCCATATAT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63949066	T T	TATTTTCC others(8): Show TATTTTCCATATATGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp1 HG02886.hp1 others(2): Show HG02572.hp2 HG02809.hp1 HG02886.hp1 NA19079.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010	a0001c0001t0133 a0001c0002t0001 a0001c0002t0058 others(2): Show a0001c0001t0133 a0001c0002t0001 a0001c0002t0058 a0001c0003t0088 a0001c0010t0019	a0001c0001t0133g0119 a0001c0002t0001g0099 a0001c0002t0058g0015 others(2): Show a0001c0001t0133g0119 a0001c0002t0001g0099 a0001c0002t0058g0015 a0001c0003t0088g0160 a0001c0010t0019g0168	5	167	0.0299	15	c.68- others(32): Show c.68-34867_68-34866insAATTTTCCATATATG	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64041875	A A	ATATTATT others(8): Show ATATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01361.hp2 HG01496.hp1 others(5): Show HG01069.hp1 HG01361.hp2 HG01496.hp1 HG01517.hp2 HG02683.hp1 HG02818.hp1 HG02895.hp2 NA18984.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0012 a0001c0001 a0001c0002 a0004c0012	a0001c0001t0066 a0001c0001t0072 a0001c0002t0001 others(5): Show a0001c0001t0066 a0001c0001t0072 a0001c0002t0001 a0001c0002t0013 a0001c0002t0018 a0001c0002t0050 a0001c0002t0064 a0004c0012t0017	a0001c0001t0066g0100 a0001c0001t0072g0117 a0001c0002t0001g0124 others(5): Show a0001c0001t0066g0100 a0001c0001t0072g0117 a0001c0002t0001g0124 a0001c0002t0013g0087 a0001c0002t0018g0068 a0001c0002t0050g0101 a0001c0002t0064g0126 a0004c0012t0017g0111	8	58	0.1379	15	c.490 others(30): Show c.490-889_490-875dupATTATTATTATTATT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64044674	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01496.hp1 HG02559.hp1 others(1): Show HG00558.hp2 HG01496.hp1 HG02559.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0079 a0001c0002t0008 a0001c0002t0064 a0001c0001t0079 a0001c0002t0008 a0001c0002t0064	a0001c0001t0079g0148 a0001c0002t0008g0095 a0001c0002t0008g0096 others(1): Show a0001c0001t0079g0148 a0001c0002t0008g0095 a0001c0002t0008g0096 a0001c0002t0064g0126	4	64	0.0625	15	c.801 others(32): Show c.801+1110_801+1124dupTTTTTTTTTTTTTTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64129975	G G	GGTTGTTG others(8): Show GGTTGTTGTTGTTGTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0019 a0001c0010t0019	a0001c0010t0019g0168 a0001c0010t0019g0168	1	143	0.0070	15	c.288 others(34): Show c.2880+1794_2880+1808dupGTTGTTGTTGTTGTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr12	TogoVar

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