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
TFAP2D_chr6_50708526_50778033	50757729	C C	CTATATAT others(21): Show CTATATATAGAATATATATAATTATTCTA	intron_variant intron_variant	MODIFIER	HG03492.hp2 NA18946.hp2 NA18968.hp1 others(4): Show HG03492.hp2 NA18946.hp2 NA18968.hp1 NA18968.hp2 NA18991.hp1 NA18994.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0150 others(4): Show a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0160 a0001c0001t0001g0185 a0001c0001t0003g0272 a0001c0001t0003g0273	7	194	0.0361	28	c.113 others(47): Show c.1139+6458_1139+6485dupTCTATATATATAGAATATATATAATT AT	TFAP2D	ENSG00000008197.5	transcript	ENST00000008391.4	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
TFAP2D_chr6_50708526_50778033	50757778	T T	TTATTCTA others(21): Show TTATTCTATATATATAGAATATATATAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01255.hp1 HG01261.hp1 others(6): Show HG00733.hp2 HG01255.hp1 HG01261.hp1 HG01346.hp2 HG01515.hp2 HG01517.hp2 HG03704.hp2 HG04228.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0027 a0001c0001t0004g0072 a0001c0001t0004g0083 others(6): Show a0001c0001t0004g0027 a0001c0001t0004g0072 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0092 a0001c0001t0004g0218	9	294	0.0306	28	c.113 others(47): Show c.1139+6481_1139+6482insATATTCTATATATATAGAATATATAT AA	TFAP2D	ENSG00000008197.5	transcript	ENST00000008391.4	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
TFB1M_chr6_155251134_155319484	155305394	A A	ATATATAA others(21): Show ATATATAAATATATATTAAATTATATATT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG02723.hp1 others(4): Show HG01891.hp1 HG02280.hp1 HG02723.hp1 HG03130.hp1 HG03579.hp1 NA18906.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0006 a0001c0001t0009 a0002c0005t0039 a0001c0001t0006 a0001c0001t0009 a0002c0005t0039	a0001c0001t0006g0007 a0001c0001t0006g0226 a0001c0001t0006g0227 others(2): Show a0001c0001t0006g0007 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0009g0228 a0002c0005t0039g0305	7	346	0.0202	28	c.285 others(45): Show c.285+5793_285+5794insAATATATAATTTAATATATATTTATATA	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6			chr6	TogoVar
TFB2M_chr1_246535561_246571261	246546962	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0127 a0001c0003t0002g0127	1	442	0.0023	28	c.858 others(45): Show c.858+1582_858+1583insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	TFB2M	ENSG00000162851.8	transcript	ENST00000366514.5	protein_coding	6/7			chr1	TogoVar
TFCP2L1_chr2_121211587_121290202	121269918	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0082 a0001c0008t0082	a0001c0008t0082g0347 a0001c0008t0082g0347	1	119	0.0084	28	c.214 others(47): Show c.214+11201_214+11202insATATTTTTTTTTTTTTTTTTTTTTTT TT	TFCP2L1	ENSG00000115112.8	transcript	ENST00000263707.6	protein_coding	2/14			chr2	TogoVar
TFCP2L1_chr2_121211587_121290202	121287677	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0083 a0001c0002t0003g0083	1	140	0.0071	28	c.-25 others(39): Show c.-2569_-2568insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	TFCP2L1	ENSG00000115112.8	transcript	ENST00000263707.6	protein_coding		2476		chr2	TogoVar
TFCP2_chr12_51088656_51178135	51149024	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0118 a0001c0001t0005g0118	1	90	0.0111	28	c.122 others(47): Show c.122+23276_122+23277insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	TFCP2	ENSG00000135457.11	transcript	ENST00000257915.10	protein_coding	1/14			chr12	TogoVar
TFDP1_chr13_113579753_113646473	113582404	G G	GCCTCGTG others(21): Show GCCTCGTGCGCGTTCGGAGTATCTCAGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	346	0.0029	28	c.-25 others(39): Show c.-2549_-2548insCCTCGTGCGCGTTCGGAGTATCTCAGTA	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding		2348		chr13	TogoVar
TFDP1_chr13_113579753_113646473	113601340	C C	CGGCTGCT others(21): Show CGGCTGCTGGTGGGATCCCGCTCCTTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(214): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18972.hp1 NA18974.hp1 NA18975.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp2 NA19086.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0004 a0003c0005	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0008 a0001c0006t0003 a0002c0004t0001 a0003c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(186): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0089 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0301 a0001c0001t0006g0202 a0001c0001t0007g0168 a0001c0001t0009g0032 a0001c0001t0010g0211 a0001c0002t0001g0001 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0003g0037 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0148 a0001c0003t0001g0157 a0001c0003t0008g0149 a0001c0006t0003g0035 a0002c0004t0001g0240 a0003c0005t0001g0176	217	346	0.6272	28	c.13- others(43): Show c.13-9650_13-9623dupCTGGTGGGATCCCGCTCCTTGTGGGCTG	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
TFDP2_chr3_141939428_142154544	141968625	T T	TATATATA others(21): Show TATATATAACATATATATCTCATATATAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp1 HG02615.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0027 a0001c0001t0018 a0001c0001t0027	a0001c0001t0018g0037 a0001c0001t0027g0033 a0001c0001t0018g0037 a0001c0001t0027g0033	2	247	0.0081	28	c.732 others(45): Show c.732+1447_732+1448insCTATATATGAGATATATATGTTATATAT	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	9/12			chr3	TogoVar
TFDP2_chr3_141939428_142154544	142017938	T T	TTTTATTT others(21): Show TTTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01256.hp2 HG01258.hp1 HG01070.hp2 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0054 a0001c0001t0022 a0001c0001t0054	a0001c0001t0022g0212 a0001c0001t0022g0213 a0001c0001t0054g0197 a0001c0001t0022g0212 a0001c0001t0022g0213 a0001c0001t0054g0197	3	240	0.0125	28	c.83- others(45): Show c.83-12395_83-12394insTAAATAAATAAATAAATAAATAAATAAA	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	3/12			chr3	TogoVar
TFDP3_chrX_133211662_133223354	133218350	G G	GGTGCGTG others(21): Show GGTGCGTGGCGTAACGTGCGTGGCGTAAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02922.hp2 HG03688.hp1 NA18906.hp1 others(1): Show HG02922.hp2 HG03688.hp1 NA18906.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0000 a0001c0001t0008g0000	4	111	0.0360	28	c.-92 others(35): Show c.-92_-91insGTTACGCCACGCACGTTACGCCACGCAC	TFDP3	ENSG00000183434.10	transcript	ENST00000310125.5	protein_coding	1/1	92		chrX	TogoVar
TFE3_chrX_49023726_49048357	49035322	A A	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03516.hp2 HG03540.hp1 HG02257.hp1 HG03516.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0069 a0002c0003t0001g0011 a0001c0001t0002g0069 a0002c0003t0001g0011	3	19	0.1579	28	c.886 others(45): Show c.886-1072_886-1071insATTTATTTATTTATTTATTTATTTATTT	TFE3	ENSG00000068323.17	transcript	ENST00000315869.8	protein_coding	5/9			chrX	TogoVar
TFEC_chr7_115930152_116035763	115944013	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02738.hp1 HG00140.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0317 a0001c0001t0009g0144 a0001c0001t0002g0317 a0001c0001t0009g0144	2	77	0.0260	28	c.516 others(45): Show c.516-1974_516-1973insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	TFEC	ENSG00000105967.16	transcript	ENST00000265440.12	protein_coding	6/7			chr7	TogoVar
TFF2_chr21_42341357_42355994	42349387	G G	GCTAGCCC others(21): Show GCTAGCCCCAGACTAACCAACCTGGGCTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(89): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 HG01168.hp1 HG01192.hp1 HG01261.hp1 HG01346.hp1 HG01891.hp1 HG01934.hp2 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02258.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02630.hp1 HG02717.hp1 HG02922.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG04115.hp1 HG04204.hp1 NA18522.hp2 NA18612.hp2 NA18939.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp2 NA18995.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19009.hp2 NA19012.hp1 NA19030.hp2 NA19055.hp2 NA19057.hp2 NA19070.hp1 NA19074.hp1 NA19075.hp2 NA19077.hp1 NA19082.hp1 NA19083.hp1 NA19087.hp1 NA19091.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0023 a0001c0001t0001g0050 a0001c0001t0002g0003 others(10): Show a0001c0001t0001g0023 a0001c0001t0001g0050 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0029 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0003g0014 a0001c0001t0003g0049 a0001c0001t0004g0053 a0001c0001t0005g0047	92	451	0.2040	28	c.229 others(43): Show c.229+466_229+493dupTAGCCCAGGTTGGTTAGTCTGGGGCTAG	TFF2	ENSG00000160181.9	transcript	ENST00000291526.5	protein_coding	2/3			chr21	TogoVar
TFPI2_chr7_93880396_93895753	93888524	A A	AGAAAGAA others(21): Show AGAAAGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02698.hp2 HG03834.hp2 others(5): Show HG02129.hp2 HG02698.hp2 HG03834.hp2 HG04184.hp1 NA18977.hp1 NA19063.hp2 NA19076.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0022 a0001c0002t0003g0036 a0001c0002t0003g0066 others(3): Show a0001c0002t0003g0022 a0001c0002t0003g0036 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0072 a0001c0002t0003g0110	8	411	0.0195	28	c.460 others(43): Show c.460+510_460+511insCTTCCTTCCTTCCTTCCTTCCTTCTTTC	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding	3/4			chr7	TogoVar
TFPI2_chr7_93880396_93895753	93888587	A A	AGGAAGGA others(21): Show AGGAAGGAAGGAAGGAAGGAAGGAAAGAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG02451.hp2 others(1): Show HG02109.hp2 HG02280.hp1 HG02451.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0095 a0001c0001t0001g0030 a0001c0001t0001g0095	4	183	0.0219	28	c.460 others(43): Show c.460+447_460+448insCTCTTTCCTTCCTTCCTTCCTTCCTTCC	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding	3/4			chr7	TogoVar
TFPI2_chr7_93880396_93895753	93888589	G G	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02129.hp2 HG03942.hp2 HG01496.hp1 HG02129.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0065 a0001c0002t0003g0069 a0001c0002t0003g0072 a0001c0002t0003g0065 a0001c0002t0003g0069 a0001c0002t0003g0072	3	144	0.0208	28	c.460 others(43): Show c.460+445_460+446insTTCTTTCTTTCTTTCTTTCTTTCTTTCT	TFPI2	ENSG00000105825.14	transcript	ENST00000222543.11	protein_coding	3/4			chr7	TogoVar
TFPT_chr19_54102020_54120657	54105264	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	87	0.0115	28	c.17 others(39): Show c.1785_*1786insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	TFPT	ENSG00000105619.14	transcript	ENST00000391759.6	protein_coding		1755		chr19	TogoVar
TFR2_chr7_100615420_100646552	100634177	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	58	0.0172	28	c.474 others(43): Show c.474-649_474-622dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	TFR2	ENSG00000106327.13	transcript	ENST00000223051.8	protein_coding	3/17			chr7	TogoVar
TGFA_chr2_70442284_70558826	70504447	T T	TATATATA others(21): Show TATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA18975.hp1 HG00642.hp2 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0039 a0001c0002t0035 a0001c0002t0039	a0001c0002t0035g0154 a0001c0002t0039g0204 a0001c0002t0035g0154 a0001c0002t0039g0204	2	298	0.0067	28	c.94+ others(45): Show c.94+10411_94+10412insGTATGTATATATATATATATATATATAT	TGFA	ENSG00000163235.16	transcript	ENST00000295400.11	protein_coding	2/5			chr2	TogoVar
TGFA_chr2_70442284_70558826	70504449	T T	TATATATA others(21): Show TATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01433.hp1 HG02809.hp1 others(3): Show HG00423.hp1 HG01433.hp1 HG02809.hp1 HG03491.hp1 NA18945.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0236 a0001c0002t0003g0152 a0001c0002t0003g0189 others(3): Show a0001c0001t0001g0236 a0001c0002t0003g0152 a0001c0002t0003g0189 a0001c0002t0003g0243 a0001c0002t0003g0245 a0001c0002t0003g0316	6	316	0.0190	28	c.94+ others(45): Show c.94+10409_94+10410insGTATGTATATATATATATATATATATAT	TGFA	ENSG00000163235.16	transcript	ENST00000295400.11	protein_coding	2/5			chr2	TogoVar
TGFA_chr2_70442284_70558826	70504451	T T	TATATATA others(21): Show TATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01106.hp2 NA19074.hp1 HG00544.hp2 HG01106.hp2 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0009 a0001c0002t0003 a0001c0002t0009	a0001c0002t0003g0031 a0001c0002t0003g0324 a0001c0002t0009g0237 a0001c0002t0003g0031 a0001c0002t0003g0324 a0001c0002t0009g0237	3	338	0.0089	28	c.94+ others(45): Show c.94+10407_94+10408insGTATGTATATATATATATATATATATAT	TGFA	ENSG00000163235.16	transcript	ENST00000295400.11	protein_coding	2/5			chr2	TogoVar
TGFA_chr2_70442284_70558826	70504469	C C	CATACATA others(21): Show CATACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0046 a0001c0002t0003g0046	1	239	0.0042	28	c.94+ others(45): Show c.94+10389_94+10390insATATATATATATATATATATATATGTAT	TGFA	ENSG00000163235.16	transcript	ENST00000295400.11	protein_coding	2/5			chr2	TogoVar
TGFBR3_chr1_91675343_91891151	91734053	A A	AGAGGGAG others(21): Show AGAGGGAGAGAGGGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02257.hp1 HG02451.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0173 a0001c0002t0004g0282 a0001c0002t0004g0283 a0001c0002t0004g0173 a0001c0002t0004g0282 a0001c0002t0004g0283	3	12	0.2500	28	c.568 others(43): Show c.568+722_568+723insCCTCCCTCCCTCCCTCCCTCTCTCCCTC	TGFBR3	ENSG00000069702.11	transcript	ENST00000212355.9	protein_coding	5/16			chr1	TogoVar
TGM2_chr20_38122385_38170270	38149678	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0260 a0001c0002t0002g0260	1	224	0.0045	28	c.552 others(45): Show c.552+1260_552+1261insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding	4/12			chr20	TogoVar
TGS1_chr8_55768446_55831445	55801582	C C	CCTTTTTT others(21): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18906.hp1 HG02257.hp2 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0032 a0003c0003t0005g0304 a0003c0003t0005g0032 a0003c0003t0005g0304	2	113	0.0177	28	c.185 others(45): Show c.1850-875_1850-874insCTTTTTTTTTTTTTTTTTTTTTTTTTTT	TGS1	ENSG00000137574.11	transcript	ENST00000260129.6	protein_coding	8/12			chr8	TogoVar
TG_chr8_132861958_133139899	132957766	C C	CACACACA others(21): Show CACACACACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0099 a0099	a0099c0034 a0099c0034	a0099c0034t0001 a0099c0034t0001	a0099c0034t0001g0100 a0099c0034t0001g0100	1	42	0.0238	28	c.540 others(47): Show c.5402-3224_5402-3223insACACACACAGACACACACACACACAC AC	TG	ENSG00000042832.12	transcript	ENST00000220616.9	protein_coding	27/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
TG_chr8_132861958_133139899	133093141	T T	TTTCTTTT others(21): Show TTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03098.hp1 NA20129.hp2 HG02486.hp1 HG03098.hp1 NA20129.hp2	a0025 a0083 a0127 a0025 a0083 a0127	a0025c0017 a0083c0101 a0127c0085 a0025c0017 a0083c0101 a0127c0085	a0025c0017t0001 a0083c0101t0001 a0127c0085t0001 a0025c0017t0001 a0083c0101t0001 a0127c0085t0001	a0025c0017t0001g0127 a0083c0101t0001g0033 a0127c0085t0001g0008 a0025c0017t0001g0127 a0083c0101t0001g0033 a0127c0085t0001g0008	3	132	0.0227	28	c.724 others(47): Show c.7240-1901_7240-1900insCTTTTCTTTTCTTTTCTTTTCTTTTC TT	TG	ENSG00000042832.12	transcript	ENST00000220616.9	protein_coding	41/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
THADA_chr2_43225851_43601038	43229819	A A	AGAGTGTG others(21): Show AGAGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG03098.hp1 HG03486.hp1 HG02257.hp1 HG03098.hp1 HG03486.hp1	a0002 a0017 a0002 a0017	a0002c0003 a0002c0009 a0017c0039 a0002c0003 a0002c0009 a0017c0039	a0002c0003t0001 a0002c0009t0001 a0017c0039t0001 a0002c0003t0001 a0002c0009t0001 a0017c0039t0001	a0002c0003t0001g0154 a0002c0009t0001g0023 a0017c0039t0001g0124 a0002c0003t0001g0154 a0002c0009t0001g0023 a0017c0039t0001g0124	3	115	0.0261	28	c.11 others(39): Show c.1128_*1129insACACACACACACACACACACACACACTC	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding		1031		chr2	TogoVar
THADA_chr2_43225851_43601038	43298032	C C	CCCCGTCC others(21): Show CCCCGTCCGGGAGGTGAGGGGCGCCTCTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG01099.hp1 others(26): Show HG00642.hp1 HG00738.hp2 HG01099.hp1 HG01243.hp2 HG01261.hp2 HG02055.hp2 HG02559.hp2 HG02572.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03831.hp2 HG06807.hp2 NA18522.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0004 a0005 others(9): Show a0001 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0014 a0019 a0023	a0001c0001 a0001c0006 a0001c0020 others(13): Show a0001c0001 a0001c0006 a0001c0020 a0004c0008 a0005c0004 a0006c0005 a0007c0007 a0008c0033 a0009c0012 a0010c0013 a0010c0037 a0011c0028 a0011c0032 a0014c0026 a0019c0035 a0023c0022	a0001c0001t0001 a0001c0006t0001 a0001c0020t0001 others(13): Show a0001c0001t0001 a0001c0006t0001 a0001c0020t0001 a0004c0008t0001 a0005c0004t0001 a0006c0005t0001 a0007c0007t0002 a0008c0033t0001 a0009c0012t0001 a0010c0013t0001 a0010c0037t0001 a0011c0028t0001 a0011c0032t0001 a0014c0026t0003 a0019c0035t0001 a0023c0022t0001	a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0118 others(26): Show a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0006t0001g0115 a0001c0006t0001g0116 a0001c0006t0001g0157 a0001c0006t0001g0158 a0001c0006t0001g0159 a0001c0006t0001g0160 a0001c0020t0001g0120 a0004c0008t0001g0057 a0004c0008t0001g0114 a0005c0004t0001g0040 a0006c0005t0001g0026 a0007c0007t0002g0010 a0008c0033t0001g0125 a0009c0012t0001g0015 a0009c0012t0001g0016 a0009c0012t0001g0017 a0009c0012t0001g0018 a0010c0013t0001g0013 a0010c0013t0001g0022 a0010c0013t0001g0032 a0010c0037t0001g0066 a0011c0028t0001g0049 a0011c0032t0001g0122 a0014c0026t0003g0002 a0019c0035t0001g0196 a0023c0022t0001g0014	29	94	0.3085	28	c.443 others(47): Show c.4439-4820_4439-4819insCAGAGGCGCCCCTCACCTCCCGGACG GG	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43331918	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0143 a0002c0003t0001g0143	1	113	0.0088	28	c.434 others(49): Show c.4344-11406_4344-11379dupGTGTGTGTGTGTGTGTGTGTGTGT GTGT	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	30/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43400457	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02630.hp2 HG03139.hp1 others(2): Show HG01346.hp1 HG02630.hp2 HG03139.hp1 HG03579.hp2 HG03927.hp2	a0002 a0005 a0008 others(2): Show a0002 a0005 a0008 a0010 a0020	a0002c0003 a0005c0004 a0008c0011 others(2): Show a0002c0003 a0005c0004 a0008c0011 a0010c0013 a0020c0021	a0002c0003t0001 a0005c0004t0001 a0008c0011t0001 others(2): Show a0002c0003t0001 a0005c0004t0001 a0008c0011t0001 a0010c0013t0001 a0020c0021t0001	a0002c0003t0001g0109 a0005c0004t0001g0042 a0008c0011t0001g0148 others(2): Show a0002c0003t0001g0109 a0005c0004t0001g0042 a0008c0011t0001g0148 a0010c0013t0001g0022 a0020c0021t0001g0031	5	119	0.0420	28	c.405 others(47): Show c.4059-2319_4059-2318insTATATATATATATATATATATATATA TA	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	28/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43515186	A A	AATATATT others(21): Show AATATATTATATATAATATATAATATATT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	175	0.0057	28	c.337 others(47): Show c.3375-6407_3375-6406insAATATATTATATATTATATATAATAT AT	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	22/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43515193	T T	TATATATA others(21): Show TATATATAATATATAATATATTATATATA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0018 a0018	a0018c0030 a0018c0030	a0018c0030t0001 a0018c0030t0001	a0018c0030t0001g0071 a0018c0030t0001g0071	1	194	0.0052	28	c.337 others(47): Show c.3375-6414_3375-6413insTATATATAATATATTATATATTATAT AT	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	22/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43515207	A A	AATATATT others(21): Show AATATATTATATATTATATATAATATATT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02257.hp2 HG03139.hp1 HG01192.hp2 HG02257.hp2 HG03139.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0147 a0008c0011t0001g0148 a0008c0011t0001g0152 a0008c0011t0001g0147 a0008c0011t0001g0148 a0008c0011t0001g0152	3	162	0.0185	28	c.337 others(47): Show c.3375-6428_3375-6427insAATATATTATATATAATATATAATAT AT	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	22/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43515214	A A	AATATATT others(21): Show AATATATTATATATAATATATTATATATT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0146 a0008c0011t0001g0146	1	118	0.0085	28	c.337 others(47): Show c.3375-6435_3375-6434insAATATATAATATATTATATATAATAT AT	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	22/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43515359	A A	AATATATA others(21): Show AATATATAATATATAATATATAATATTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	191	0.0052	28	c.337 others(47): Show c.3375-6607_3375-6580dupAAAATATTATATATTATATATTATAT AT	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	22/37			chr2	TogoVar
THAP5_chr7_108557132_108574706	108558377	G G	GTGTGTAT others(21): Show GTGTGTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG03471.hp1 HG02109.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0015 a0001c0001t0008g0015	2	335	0.0060	28	c.58 others(39): Show c.5813_*5814insTATATATATATATATATATATATACACA	THAP5	ENSG00000177683.14	transcript	ENST00000415914.4	protein_coding		3754		chr7	TogoVar
THAP5_chr7_108557132_108574706	108558377	G G	GTGTGTGT others(21): Show GTGTGTGTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	334	0.0030	28	c.58 others(39): Show c.5813_*5814insTATATATATATATATATATATACACACA	THAP5	ENSG00000177683.14	transcript	ENST00000415914.4	protein_coding		3754		chr7	TogoVar
THBS1_chr15_39576079_39604466	39581639	C C	CCTCTCTC others(21): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0065 a0002c0003t0012g0065	1	243	0.0041	28	c.-29 others(43): Show c.-29-188_-29-161dupTCTCTCTCTCTCTCTCTCTCTCTCTCTC	THBS1	ENSG00000137801.11	transcript	ENST00000260356.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
THBS4_chr5_80030348_80088287	80080579	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18994.hp2 NA19090.hp1 HG00621.hp2 NA18994.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0071 a0001c0001t0001g0146 a0001c0001t0001g0147	3	120	0.0250	28	c.268 others(45): Show c.2684+527_2684+528insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	THBS4	ENSG00000113296.14	transcript	ENST00000350881.6	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
THEG_chr19_356747_381026	376720	G G	GCCCCCAC others(21): Show GCCCCCACCCAGCCTCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0104 a0001c0001t0004g0104	1	302	0.0033	28	c.-75 others(37): Show c.-751_-750insGCACAGAGGGGGAGAGGCTGGGTGGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		695		chr19	TogoVar
THEG_chr19_356747_381026	376824	T T	TACCCCCA others(21): Show TACCCCCACCCAGCCTCTCCCCCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0120 a0001c0001t0009g0120	1	367	0.0027	28	c.-85 others(37): Show c.-855_-854insCACAGAGGGGGAGAGGCTGGGTGGGGGT	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		799		chr19	TogoVar
THEG_chr19_356747_381026	376951	C C	CTCTGTGC others(21): Show CTCTGTGCCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0104 a0001c0001t0004g0104	1	221	0.0045	28	c.-98 others(37): Show c.-982_-981insAGGGGGAGAGGCTGGGTGGGGGCACAGA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		926		chr19	TogoVar
THEG_chr19_356747_381026	376971	T T	TCCCCCTC others(21): Show TCCCCCTCTGTGCCCCACCCAGCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG02165.hp2 HG02273.hp2 HG01516.hp2 HG02165.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0289 a0001c0001t0003g0227 a0001c0001t0003g0260 a0001c0001t0001g0289 a0001c0001t0003g0227 a0001c0001t0003g0260	3	321	0.0093	28	c.-10 others(39): Show c.-1002_-1001insGGAGAGGCTGGGTGGGGCACAGAGGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		946		chr19	TogoVar
THEG_chr19_356747_381026	376976	C C	CCTCTGTA others(21): Show CCTCTGTACCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0042 a0001c0004t0002g0042	1	240	0.0042	28	c.-10 others(39): Show c.-1007_-1006insAGGGGGAGAGGCTGGGTGGGGTACAGAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		951		chr19	TogoVar
THEG_chr19_356747_381026	377059	T T	TACCCCCA others(21): Show TACCCCCACCCAGCCTCTCCCCCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0256 a0002c0002t0001g0256	1	368	0.0027	28	c.-10 others(39): Show c.-1090_-1089insCACAGAGGGGGAGAGGCTGGGTGGGGGT	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1034		chr19	TogoVar
THEG_chr19_356747_381026	377075	T T	TCCCCCTC others(21): Show TCCCCCTCTGTGCCCCCACCCAGCCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0080 a0001c0001t0005g0080	1	338	0.0030	28	c.-11 others(39): Show c.-1106_-1105insGAGAGGCTGGGTGGGGGCACAGAGGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1050		chr19	TogoVar
THEG_chr19_356747_381026	377080	C C	CCCCTGTG others(21): Show CCCCTGTGCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0016 a0002c0002t0003g0016	1	210	0.0048	28	c.-11 others(39): Show c.-1111_-1110insAGGGGGAGAGGCTGGGTGGGGCACAGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1055		chr19	TogoVar

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