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
TXN_chr9_110238810_110261507	110261042	T T	TAACATTA others(8): Show TAACATTAAAGCGTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	464	0.0022	15	c.-46 others(26): Show c.-4608_-4607insTAACGCTTTAATGTT	TXN	ENSG00000136810.13	transcript	ENST00000374517.6	protein_coding		4536		chr9	TogoVar
TYK2_chr19_10345533_10385572	10372484	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03688.hp1 HG02257.hp1 HG03688.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0002 a0008c0010t0010 a0001c0001t0002 a0008c0010t0010	a0001c0001t0002g0308 a0008c0010t0010g0045 a0001c0001t0002g0308 a0008c0010t0010g0045	2	170	0.0118	15	c.194 others(32): Show c.194-4067_194-4066insATATATATATATATA	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24			chr19	TogoVar
TYK2_chr19_10345533_10385572	10372485	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0330 a0001c0001t0002g0330	1	335	0.0030	15	c.194 others(32): Show c.194-4068_194-4067insTATATATATATATAT	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	3/24			chr19	TogoVar
TYK2_chr19_10345533_10385572	10378833	A A	ACATCTTA others(8): Show ACATCTTATCTTATCT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02602.hp2 HG01175.hp1 HG02602.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0055 a0003c0004t0002g0056 a0003c0004t0002g0055 a0003c0004t0002g0056	2	82	0.0244	15	c.-20 others(30): Show c.-20-408_-20-407insAGATAAGATAAGATG	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	2/24			chr19	TogoVar
TYK2_chr19_10345533_10385572	10378833	A A	ATATCTTA others(8): Show ATATCTTATCTTATCT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp2 HG01943.hp1 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	2	82	0.0244	15	c.-20 others(30): Show c.-20-422_-20-408dupAGATAAGATAAGATA	TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	2/24			chr19	TogoVar
TYMS_chr18_652653_678578	667992	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02300.hp1 HG02559.hp2 others(21): Show HG01168.hp1 HG02300.hp1 HG02559.hp2 HG02602.hp1 HG02630.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG03098.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03688.hp2 HG03942.hp1 HG04184.hp1 NA19009.hp1 NA19010.hp1 NA19054.hp1 NA19082.hp1 NA19082.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0002t0001 a0001c0002t0005	a0001c0001t0001g0028 a0001c0001t0001g0066 a0001c0001t0001g0135 others(20): Show a0001c0001t0001g0028 a0001c0001t0001g0066 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0157 a0001c0001t0001g0299 a0001c0001t0005g0209 a0001c0001t0005g0332 a0001c0001t0008g0028 a0001c0001t0008g0103 a0001c0001t0008g0143 a0001c0001t0008g0152 a0001c0001t0008g0182 a0001c0001t0010g0181 a0001c0001t0010g0322 a0001c0001t0010g0330 a0001c0001t0010g0331 a0001c0002t0001g0124 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0005g0031 a0001c0002t0005g0125	24	174	0.1379	15	c.455 others(32): Show c.455-1075_455-1061dupTTTTTTTTTTTTTTT	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYRO3_chr15_41554212_41588589	41582997	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG03669.hp2 others(2): Show HG00642.hp1 HG00642.hp2 HG03669.hp2 HG03927.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0022 a0001c0001t0049 a0001c0001t0021 a0001c0001t0022 a0001c0001t0049	a0001c0001t0021g0001 a0001c0001t0021g0168 a0001c0001t0022g0149 others(2): Show a0001c0001t0021g0001 a0001c0001t0021g0168 a0001c0001t0022g0149 a0001c0001t0022g0152 a0001c0001t0049g0025	5	22	0.2273	15	c.47 others(26): Show c.4722_*4736dupTTTTTTTTTTTTTTT	TYRO3	ENSG00000092445.12	transcript	ENST00000263798.8	protein_coding	19/19	4737	INFO_REALIGN_3_PRIME	chr15	TogoVar
TYRO3_chr15_41554212_41588589	41584334	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG03942.hp1 HG04199.hp2 others(2): Show HG00741.hp2 HG03942.hp1 HG04199.hp2 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0001t0018 a0001c0001t0073 others(2): Show a0001c0001t0017 a0001c0001t0018 a0001c0001t0073 a0001c0001t0074 a0001c0002t0072	a0001c0001t0017g0235 a0001c0001t0018g0039 a0001c0001t0073g0237 others(2): Show a0001c0001t0017g0235 a0001c0001t0018g0039 a0001c0001t0073g0237 a0001c0001t0074g0039 a0001c0002t0072g0220	5	13	0.3846	15	c.60 others(26): Show c.6058_*6059insAAAAAAAAAAAAAAA	TYRO3	ENSG00000092445.12	transcript	ENST00000263798.8	protein_coding		746		chr15	TogoVar
TYR_chr11_89172875_89300759	89198769	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02723.hp1 HG01074.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0277 a0001c0001t0001g0278	2	300	0.0067	15	c.103 others(34): Show c.1036+7352_1036+7353insATATATATATATTTT	TYR	ENSG00000077498.9	transcript	ENST00000263321.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
TYR_chr11_89172875_89300759	89216647	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01978.hp2 HG00099.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0220 a0001c0001t0001g0221	2	86	0.0233	15	c.103 others(36): Show c.1037-11168_1037-11154dupAAAAAAAAAAAAAAA	TYR	ENSG00000077498.9	transcript	ENST00000263321.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
TYR_chr11_89172875_89300759	89298200	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	219	0.0046	15	c.28 others(26): Show c.2834_*2835insAAAAAAAAAAAAAAA	TYR	ENSG00000077498.9	transcript	ENST00000263321.6	protein_coding		2442		chr11	TogoVar
TYSND1_chr10_70132981_70151700	70149547	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01261.hp2 HG03225.hp1 others(8): Show HG00741.hp2 HG01261.hp2 HG03225.hp1 NA18522.hp2 NA18940.hp1 NA18970.hp2 NA18991.hp2 NA18994.hp2 NA18999.hp2 NA19010.hp1 NA19056.hp1	a0001 a0003 a0016 a0001 a0003 a0016	a0001c0002 a0001c0005 a0003c0004 others(1): Show a0001c0002 a0001c0005 a0003c0004 a0016c0017	a0001c0002t0005 a0001c0005t0005 a0003c0004t0030 others(2): Show a0001c0002t0005 a0001c0005t0005 a0003c0004t0030 a0003c0004t0033 a0016c0017t0005	a0001c0002t0005g0027 a0001c0002t0005g0046 a0001c0002t0005g0047 others(5): Show a0001c0002t0005g0027 a0001c0002t0005g0046 a0001c0002t0005g0047 a0001c0005t0005g0010 a0001c0005t0005g0011 a0003c0004t0030g0057 a0003c0004t0033g0056 a0016c0017t0005g0100	11	35	0.3143	15	c.-29 others(26): Show c.-2976_-2962dupAAAAAAAAAAAAAAA	TYSND1	ENSG00000156521.14	transcript	ENST00000287078.7	protein_coding		2848		chr10	TogoVar
TYW1B_chr7_72569513_72833200	72570242	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00544.hp1 others(104): Show HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01257.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03195.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03516.hp1 HG03704.hp1 HG03927.hp2 HG04115.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18971.hp2 NA18972.hp1 NA18982.hp1 NA18982.hp2 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19005.hp2 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19060.hp1 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0010	a0001c0001 a0001c0002 a0001c0006 others(8): Show a0001c0001 a0001c0002 a0001c0006 a0001c0014 a0002c0003 a0003c0004 a0004c0005 a0005c0008 a0005c0022 a0005c0023 a0010c0013	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(10): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0014t0001 a0002c0003t0001 a0003c0004t0001 a0003c0004t0002 a0004c0005t0001 a0005c0008t0001 a0005c0008t0006 a0005c0022t0001 a0005c0023t0007 a0010c0013t0004	a0001c0001t0001g0094 a0001c0002t0001g0187 a0001c0002t0001g0190 others(104): Show a0001c0001t0001g0094 a0001c0002t0001g0187 a0001c0002t0001g0190 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0209 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0261 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0282 a0001c0006t0001g0141 a0001c0006t0001g0203 a0001c0006t0001g0204 a0001c0014t0001g0184 a0002c0003t0001g0083 a0002c0003t0001g0110 a0002c0003t0001g0111 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0142 a0002c0003t0001g0143 a0002c0003t0001g0144 a0002c0003t0001g0145 a0002c0003t0001g0147 a0002c0003t0001g0148 a0002c0003t0001g0149 a0002c0003t0001g0150 a0002c0003t0001g0151 a0002c0003t0001g0152 a0002c0003t0001g0153 a0002c0003t0001g0154 a0002c0003t0001g0155 a0002c0003t0001g0156 a0003c0004t0001g0027 a0003c0004t0001g0098 a0003c0004t0001g0099 a0003c0004t0001g0100 a0003c0004t0001g0101 a0003c0004t0001g0103 a0003c0004t0001g0104 a0003c0004t0001g0105 a0003c0004t0001g0106 a0003c0004t0001g0107 a0003c0004t0001g0108 a0003c0004t0001g0109 a0003c0004t0001g0132 a0003c0004t0001g0135 a0003c0004t0001g0136 a0003c0004t0002g0285 a0003c0004t0002g0286 a0004c0005t0001g0177 a0005c0008t0001g0009 a0005c0008t0001g0011 a0005c0008t0001g0180 a0005c0008t0001g0181 a0005c0008t0001g0183 a0005c0008t0006g0010 a0005c0022t0001g0182 a0005c0023t0007g0178 a0010c0013t0004g0001	107	196	0.5459	15	c.52 others(26): Show c.5255_*5256insTTTTTTTTTTTTTTT	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding		4270		chr7	TogoVar
TYW1B_chr7_72569513_72833200	72627456	G G	GTAACATA others(8): Show GTAACATAACATAACA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	178	0.0056	15	c.161 others(34): Show c.1617+1416_1617+1430dupTGTTATGTTATGTTA	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	12/13			chr7	TogoVar
TYW1B_chr7_72569513_72833200	72627512	T T	TAACATAA others(8): Show TAACATAACATAAATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG01257.hp1 others(6): Show HG00438.hp1 HG00558.hp1 HG01257.hp1 HG02293.hp2 HG03490.hp2 NA18971.hp2 NA18994.hp1 NA19086.hp1 NA19086.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0003 a0003c0004 a0001c0002 a0002c0003 a0003c0004	a0001c0002t0001 a0002c0003t0001 a0003c0004t0001 others(1): Show a0001c0002t0001 a0002c0003t0001 a0003c0004t0001 a0003c0004t0002	a0001c0002t0001g0215 a0001c0002t0001g0219 a0001c0002t0001g0238 others(6): Show a0001c0002t0001g0215 a0001c0002t0001g0219 a0001c0002t0001g0238 a0001c0002t0001g0241 a0001c0002t0001g0261 a0002c0003t0001g0146 a0003c0004t0001g0098 a0003c0004t0001g0100 a0003c0004t0002g0286	9	204	0.0441	15	c.161 others(34): Show c.1617+1374_1617+1375insTATTTATGTTATGTT	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	12/13			chr7	TogoVar
TYW1B_chr7_72569513_72833200	72716631	C C	CTGTTGTT others(8): Show CTGTTGTTGTTGTTGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02630.hp1 HG02809.hp1 others(1): Show HG02055.hp2 HG02630.hp1 HG02809.hp1 HG02895.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0191 a0001c0006t0001g0197 a0001c0006t0001g0198 others(1): Show a0001c0006t0001g0191 a0001c0006t0001g0197 a0001c0006t0001g0198 a0001c0006t0001g0199	4	143	0.0280	15	c.119 others(34): Show c.1193-2848_1193-2834dupACAACAACAACAACA	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	9/13			chr7	TogoVar
TYW1B_chr7_72569513_72833200	72734268	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00558.hp2 others(91): Show HG00280.hp1 HG00323.hp1 HG00558.hp2 HG00639.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02015.hp1 HG02055.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03130.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18962.hp2 NA18964.hp1 NA18969.hp2 NA18972.hp2 NA18985.hp1 NA18988.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19060.hp2 NA19064.hp2 NA19074.hp1 NA19080.hp1 NA19081.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20905.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0007 a0012	a0001c0001 a0001c0007 a0001c0018 others(9): Show a0001c0001 a0001c0007 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0004c0005 a0004c0024 a0004c0025 a0005c0022 a0007c0012 a0012c0015	a0001c0001t0001 a0001c0007t0001 a0001c0018t0001 others(9): Show a0001c0001t0001 a0001c0007t0001 a0001c0018t0001 a0001c0019t0001 a0001c0020t0001 a0001c0021t0001 a0004c0005t0001 a0004c0024t0001 a0004c0025t0001 a0005c0022t0001 a0007c0012t0001 a0012c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(91): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0113 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0158 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0007t0001g0186 a0001c0007t0001g0268 a0001c0007t0001g0269 a0001c0007t0001g0270 a0001c0007t0001g0272 a0001c0007t0001g0273 a0001c0007t0001g0274 a0001c0018t0001g0044 a0001c0019t0001g0088 a0001c0020t0001g0058 a0001c0021t0001g0067 a0004c0005t0001g0159 a0004c0005t0001g0160 a0004c0005t0001g0162 a0004c0005t0001g0163 a0004c0005t0001g0164 a0004c0005t0001g0165 a0004c0005t0001g0171 a0004c0005t0001g0172 a0004c0005t0001g0173 a0004c0005t0001g0176 a0004c0005t0001g0177 a0004c0024t0001g0175 a0004c0025t0001g0161 a0005c0022t0001g0182 a0007c0012t0001g0166 a0012c0015t0001g0008	94	259	0.3629	15	c.108 others(34): Show c.1083-5338_1083-5337insGTTTTTTTTTTTTTT	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	8/13			chr7	TogoVar
TYW1B_chr7_72569513_72833200	72756201	T T	TTTTTATT others(8): Show TTTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02698.hp1 HG02965.hp2 others(2): Show HG01074.hp1 HG02698.hp1 HG02965.hp2 NA18969.hp2 NA19005.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0007 a0012c0015 a0001c0001 a0001c0007 a0012c0015	a0001c0001t0001 a0001c0007t0001 a0012c0015t0001 a0001c0001t0001 a0001c0007t0001 a0012c0015t0001	a0001c0001t0001g0012 a0001c0001t0001g0085 a0001c0001t0001g0089 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0007t0001g0186 a0012c0015t0001g0008	5	88	0.0568	15	c.965 others(34): Show c.965-11615_965-11601dupTAAAATAAAATAAAA	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	7/13			chr7	TogoVar
TYW1B_chr7_72569513_72833200	72830536	G G	GGCGGGGG others(8): Show GGCGGGGGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00741.hp1 others(24): Show HG00280.hp2 HG00323.hp1 HG00741.hp1 HG01081.hp1 HG01257.hp1 HG01516.hp2 HG01952.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02683.hp1 HG02698.hp2 HG02965.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18962.hp1 NA18989.hp1 NA19002.hp1 NA19068.hp2 NA19086.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0006 a0002c0003 others(3): Show a0001c0001 a0001c0006 a0002c0003 a0003c0004 a0005c0008 a0005c0022	a0001c0001t0001 a0001c0006t0001 a0002c0003t0001 others(4): Show a0001c0001t0001 a0001c0006t0001 a0002c0003t0001 a0003c0004t0001 a0003c0004t0002 a0005c0008t0001 a0005c0022t0001	a0001c0001t0001g0113 a0001c0006t0001g0141 a0002c0003t0001g0110 others(24): Show a0001c0001t0001g0113 a0001c0006t0001g0141 a0002c0003t0001g0110 a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0115 a0002c0003t0001g0116 a0002c0003t0001g0117 a0002c0003t0001g0119 a0002c0003t0001g0125 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0133 a0002c0003t0001g0140 a0002c0003t0001g0144 a0002c0003t0001g0147 a0002c0003t0001g0151 a0002c0003t0001g0152 a0002c0003t0001g0279 a0003c0004t0001g0098 a0003c0004t0001g0100 a0003c0004t0001g0104 a0003c0004t0001g0106 a0003c0004t0001g0108 a0003c0004t0002g0285 a0005c0008t0001g0009 a0005c0022t0001g0182	27	244	0.1107	15	c.-24 others(26): Show c.-2462_-2461insACCCCCCCCCCCCGC	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding		2337		chr7	TogoVar
TYW1B_chr7_72569513_72833200	72830536	G G	GGCGGGGG others(8): Show GGCGGGGGGTGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0286 a0003c0004t0002g0286	1	218	0.0046	15	c.-24 others(26): Show c.-2462_-2461insACCCCCACCCCCCGC	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding		2337		chr7	TogoVar
TYW1B_chr7_72569513_72833200	72830538	C C	CGGGGGGG others(8): Show CGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 NA19010.hp1 NA19074.hp2 HG02572.hp1 NA19010.hp1 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0001 a0001c0002t0001 a0001c0007t0001	a0001c0002t0001g0226 a0001c0002t0001g0230 a0001c0007t0001g0269 a0001c0002t0001g0226 a0001c0002t0001g0230 a0001c0007t0001g0269	3	214	0.0140	15	c.-24 others(26): Show c.-2464_-2463insCCCCCCCCCCCCCCC	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding		2339		chr7	TogoVar
TYW1_chr7_66991833_67244514	67062577	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp2 HG01074.hp1 others(6): Show HG00735.hp2 HG00738.hp2 HG01074.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG02004.hp1 HG03491.hp1 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0002c0004t0002 a0001c0001t0001 a0001c0002t0001 a0002c0004t0002	a0001c0001t0001g0053 a0001c0002t0001g0303 a0001c0002t0001g0304 others(6): Show a0001c0001t0001g0053 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0307 a0001c0002t0001g0310 a0002c0004t0002g0283 a0002c0004t0002g0306 a0002c0004t0002g0309	9	360	0.0250	15	c.115 others(34): Show c.1156-4704_1156-4703insAAAAAAAAAAGAAAA	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67073702	A A	AGGTGGAG others(8): Show AGGTGGAGGTTGCAGT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	362	0.0028	15	c.127 others(34): Show c.1274+6301_1274+6315dupGTGGAGGTTGCAGTG	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67125510	T T	TATCAACA others(8): Show TATCAACATCACCCGC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00642.hp2 HG01257.hp2 others(22): Show HG00609.hp2 HG00642.hp2 HG01257.hp2 HG01358.hp1 HG01515.hp1 HG01517.hp2 HG02155.hp1 HG02300.hp2 HG03017.hp1 HG03654.hp1 HG03831.hp1 NA18612.hp2 NA18950.hp2 NA18953.hp2 NA18963.hp1 NA18982.hp2 NA18994.hp1 NA19003.hp2 NA19005.hp2 NA19012.hp2 NA19066.hp2 NA19067.hp1 NA19081.hp2 NA19087.hp1 NA19090.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0019 a0001c0001 a0006c0019	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0006c0019t0006	a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 others(22): Show a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0006g0262 a0001c0001t0011g0265 a0006c0019t0006g0263	25	362	0.0691	15	c.169 others(34): Show c.1698+7894_1698+7908dupTCAACATCACCCGCA	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67172430	C C	CCTTTTTT others(8): Show CCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02809.hp2 HG02922.hp1 HG02451.hp1 HG02809.hp2 HG02922.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0005 a0004c0006t0005	a0004c0006t0005g0107 a0004c0006t0005g0108 a0004c0006t0005g0222 a0004c0006t0005g0107 a0004c0006t0005g0108 a0004c0006t0005g0222	3	316	0.0095	15	c.169 others(36): Show c.1699-10696_1699-10695insCTTTTTTTTTTTTTT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	13/15			chr7	TogoVar
U2SURP_chr3_142996570_143065725	143004558	C C	CCAGGCTG others(8): Show CCAGGCTGGTCTGGAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00609.hp2 others(162): Show HG00438.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18957.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18985.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19058.hp2 NA19064.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0005 a0001c0008 others(4): Show a0001c0001 a0001c0005 a0001c0008 a0001c0010 a0002c0003 a0003c0009 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0005t0001 a0001c0008t0007 a0001c0010t0001 a0002c0003t0004 a0003c0009t0004 a0005c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(155): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0002g0137 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0246 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0257 a0001c0001t0004g0262 a0001c0001t0005g0009 a0001c0001t0005g0118 a0001c0001t0005g0119 a0001c0001t0005g0120 a0001c0001t0005g0121 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0005g0125 a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0129 a0001c0001t0005g0130 a0001c0001t0005g0131 a0001c0001t0007g0112 a0001c0001t0007g0113 a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0007g0161 a0001c0001t0007g0184 a0001c0001t0007g0186 a0001c0001t0010g0177 a0001c0001t0010g0210 a0001c0001t0010g0214 a0001c0001t0010g0236 a0001c0001t0016g0128 a0001c0001t0018g0254 a0001c0001t0019g0135 a0001c0001t0022g0193 a0001c0001t0023g0247 a0001c0001t0024g0122 a0001c0005t0001g0011 a0001c0008t0007g0232 a0001c0010t0001g0225 a0002c0003t0004g0014 a0002c0003t0004g0242 a0003c0009t0004g0245 a0005c0007t0001g0141	165	372	0.4435	15	c.45+ others(30): Show c.45+2886_45+2887insAGGCTGGTCTGGAAC	U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
U2SURP_chr3_142996570_143065725	143004558	C C	CCAGGCTG others(8): Show CCAGGCTGGTCTGGAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02615.hp2 HG02622.hp1 others(1): Show HG00738.hp2 HG02615.hp2 HG02622.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0354 a0001c0001t0004g0355 a0001c0001t0013g0255 others(1): Show a0001c0001t0004g0354 a0001c0001t0004g0355 a0001c0001t0013g0255 a0001c0001t0013g0256	4	211	0.0190	15	c.45+ others(30): Show c.45+2886_45+2887insAGGCTGGTCTGGAGC	U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
U2SURP_chr3_142996570_143065725	143004573	A A	ACCCCCCC others(8): Show ACCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01099.hp2 HG01106.hp1 others(6): Show HG01069.hp2 HG01099.hp2 HG01106.hp1 HG01515.hp2 HG01978.hp2 HG02004.hp1 HG02293.hp1 HG03239.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0007 a0001c0001t0019 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0019 a0001c0008t0007	a0001c0001t0001g0134 a0001c0001t0001g0162 a0001c0001t0001g0163 others(6): Show a0001c0001t0001g0134 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0228 a0001c0001t0007g0113 a0001c0001t0007g0114 a0001c0001t0007g0161 a0001c0001t0019g0135 a0001c0008t0007g0232	9	80	0.1125	15	c.45+ others(30): Show c.45+2912_45+2913insCCCCCCCCCCCCCCC	U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
U2SURP_chr3_142996570_143065725	143044289	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0251 a0001c0001t0004g0251	1	6	0.1667	15	c.254 others(34): Show c.2544+1016_2544+1030dupTTTTTTTTTTTTTTT	U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding	24/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
UAP1_chr1_162556722_162606240	162604635	T T	TAGATGGG others(8): Show TAGATGGGGCCAGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 NA18966.hp2 NA18967.hp1 others(11): Show HG02027.hp2 NA18966.hp2 NA18967.hp1 NA18972.hp1 NA18975.hp1 NA18980.hp2 NA18994.hp2 NA18999.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19056.hp1 NA19076.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0047 a0001c0001t0004g0048 others(2): Show a0001c0001t0004g0003 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050	14	410	0.0341	15	c.52 others(26): Show c.5272_*5273insAGATGGGGCCAGGAA	UAP1	ENSG00000117143.14	transcript	ENST00000367925.6	protein_coding		3396		chr1	TogoVar
UBA2_chr19_34423381_34476251	34456100	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02071.hp2 HG02083.hp1 others(10): Show HG00408.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp1 NA18945.hp2 NA18955.hp1 NA19057.hp2 NA19065.hp2 NA19066.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0043 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0043 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0289	13	169	0.0769	15	c.124 others(34): Show c.1245+1549_1245+1550insTTTTTTTTTTTTTTT	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UBA2_chr19_34423381_34476251	34457175	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0207 a0001c0002t0002g0207	1	317	0.0032	15	c.124 others(34): Show c.1246-1594_1246-1593insTATATATATATATAT	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16			chr19	TogoVar
UBA2_chr19_34423381_34476251	34457177	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	286	0.0035	15	c.124 others(34): Show c.1246-1592_1246-1591insTATATATATATATAT	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16			chr19	TogoVar
UBA2_chr19_34423381_34476251	34457179	A A	AAAAATAT others(8): Show AAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	90	0.0111	15	c.124 others(34): Show c.1246-1589_1246-1588insAAATATATATATATA	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UBA2_chr19_34423381_34476251	34457179	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	90	0.0111	15	c.124 others(34): Show c.1246-1590_1246-1589insTATATATATATATAT	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16			chr19	TogoVar
UBA6_chr4_67607652_67706155	67668458	T T	TAGAGAGA others(8): Show TAGAGAGACATGTCAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	322	0.0031	15	c.793 others(28): Show c.793+92_793+93insTTGACATGTCTCTCT	UBA6	ENSG00000033178.13	transcript	ENST00000322244.10	protein_coding	9/32			chr4	TogoVar
UBAC2_chr13_99195854_99391504	99338039	C C	CTTTTTTC others(8): Show CTTTTTTCTTTTTCTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03239.hp2 HG03490.hp1 others(4): Show HG00642.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03669.hp1 HG03704.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0261 others(4): Show a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0270	7	250	0.0280	15	c.562 others(32): Show c.562-2275_562-2274insCTTTTTCTTTTTTTT	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99338039	C C	CTTTTTTC others(8): Show CTTTTTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02004.hp2 HG01261.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0353 a0001c0001t0001g0369 a0001c0001t0001g0353 a0001c0001t0001g0369	2	245	0.0082	15	c.562 others(32): Show c.562-2275_562-2274insCTTTTTTTTTTTTTT	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAP1_chr9_34174043_34257523	34182671	C C	CTTTCTTT others(8): Show CTTTCTTTCTTTCTCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19074.hp2 NA19085.hp1 HG00438.hp2 NA19074.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0004g0325 a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0004g0325	3	293	0.0102	15	c.-8+ others(30): Show c.-8+3432_-8+3446dupTTTCTTTCTTTCTCT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP1_chr9_34174043_34257523	34220056	C C	CCCTCCCC others(8): Show CCCTCCCCTCTCCCCT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	203	0.0049	15	c.-7- others(28): Show c.-7-851_-7-850insCTCCCCTCTCCCCTC	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP1_chr9_34174043_34257523	34220056	C C	CCTCCCCT others(8): Show CCTCCCCTCTCCCCCT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	203	0.0049	15	c.-7- others(28): Show c.-7-839_-7-838insCTCTCCCCTCTCCCC	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP2L_chr1_154215955_154275847	154267880	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01515.hp1 HG01517.hp1 others(5): Show HG01243.hp2 HG01515.hp1 HG01517.hp1 HG01975.hp1 HG03017.hp1 HG03710.hp2 HG04228.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0022 a0001c0001t0003g0034 a0001c0001t0003g0105 others(4): Show a0001c0001t0003g0022 a0001c0001t0003g0034 a0001c0001t0003g0105 a0001c0001t0003g0109 a0001c0001t0003g0117 a0001c0001t0003g0138 a0001c0001t0005g0098	8	145	0.0552	15	c.297 others(32): Show c.2971-865_2971-851dupTTTTTTTTTTTTTTT	UBAP2L	ENSG00000143569.20	transcript	ENST00000428931.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBAP2_chr9_33916693_34053887	33980220	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0257 a0002c0001t0003g0257	1	16	0.0625	15	c.520 others(32): Show c.520+6525_520+6539dupAAAAAAAAAAAAAAA	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	6/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	33981115	T T	TATATATA others(8): Show TATATATATATTCTGG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18957.hp2 NA18971.hp2 others(1): Show NA18747.hp2 NA18957.hp2 NA18971.hp2 NA18975.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0091 a0002c0001t0002g0092 a0002c0001t0002g0093 others(1): Show a0002c0001t0002g0091 a0002c0001t0002g0092 a0002c0001t0002g0093 a0002c0001t0002g0103	4	288	0.0139	15	c.520 others(32): Show c.520+5644_520+5645insCCAGAATATATATAT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	6/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	33981119	T T	TATATATA others(8): Show TATATATATATTCTGG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02965.hp2 HG01981.hp1 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0271 a0001c0003t0002g0277 a0001c0003t0001g0271 a0001c0003t0002g0277	2	331	0.0060	15	c.520 others(32): Show c.520+5640_520+5641insCCAGAATATATATAT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	6/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	33981121	T T	TATATATA others(8): Show TATATATATATTCTGG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0186 a0001c0007t0001g0201 a0001c0007t0001g0186 a0001c0007t0001g0201	2	265	0.0075	15	c.520 others(32): Show c.520+5638_520+5639insCCAGAATATATATAT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	6/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	33981209	T T	TATATATA others(8): Show TATATATATATTCTGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0001 a0006c0015t0001	a0006c0015t0001g0135 a0006c0015t0001g0135	1	352	0.0028	15	c.520 others(32): Show c.520+5550_520+5551insCCAGAATATATATAT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	6/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34016174	G G	GAGGAAGA others(8): Show GAGGAAGAGGAGGAAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0040 a0002c0001t0003g0040	1	354	0.0028	15	c.99+ others(28): Show c.99+875_99+876insATTCCTCCTCTTCCT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	2/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34016370	C C	CGGCGGCG others(8): Show CGGCGGCGGTGGTGGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0064 a0002c0001t0002g0064	1	227	0.0044	15	c.99+ others(28): Show c.99+679_99+680insACCACCACCGCCGCC	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	2/28			chr9	TogoVar
UBAP2_chr9_33916693_34053887	34016370	C C	CGGTGGTG others(8): Show CGGTGGTGGTGGTGGT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0058 a0002c0001t0002g0058	1	227	0.0044	15	c.99+ others(28): Show c.99+665_99+679dupACCACCACCACCACC	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	2/28			chr9	TogoVar

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