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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TUBGCP2_chr10_133273635_133313872	133292230	CCTACCTG others(23): Show CCTACCTGTACGGGAGAGGGCAGCATGCACA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02148.hp1 NA18964.hp1 others(1): Show HG01261.hp2 HG02148.hp1 NA18964.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0008 a0001c0002t0003 a0001c0002t0008	a0001c0002t0003g0053 a0001c0002t0003g0061 a0001c0002t0003g0063 others(1): Show a0001c0002t0003g0053 a0001c0002t0003g0061 a0001c0002t0003g0063 a0001c0002t0008g0060	4	282	0.0142	-30	c.121 others(47): Show c.1214+239_1214+268delTGTGCATGCTGCCCTCTCCCGTACAGGT AG		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
TUBGCP3_chr13_112480011_112593153	112547517	ACGCGCGT others(23): Show ACGCGCGTGGGAAAGACGTGCATGGGAAAGT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0267 a0001c0001t0010g0267	1	310	0.0032	-30	c.116 others(46): Show c.1168+73_1168+102delACTTTCCCATGCACGTCTTTCCCACGCGC G		TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding	10/21						chr13	TogoVar
TUBGCP3_chr13_112480011_112593153	112547538	ATGGGAAA others(23): Show ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02735.hp2 HG02818.hp2 HG01167.hp1 HG02735.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0020	3	159	0.0189	-30	c.116 others(45): Show c.1168+52_1168+81delCGCGCGACTTTCCCACGCGCGACTTTCCCA		TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding	10/21						chr13	TogoVar
TUBGCP6_chr22_50212694_50250023	50225566	ATTCATCT others(23): Show ATTCATCTCAGCTCCCCCTTGGCACCCACCC	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0151 a0010c0013t0001g0151	1	429	0.0023	-30	c.198 others(47): Show c.1983+198_1983+227delGGGTGGGTGCCAAGGGGGAGCTGAGATG AA		TUBGCP6	ENSG00000128159.12	transcript	ENST00000248846.10	protein_coding	10/24						chr22	TogoVar
TUBGCP6_chr22_50212694_50250023	50225576	GCTCCCCC others(23): Show GCTCCCCCTTGGCACCCACCCTTCATCTCAA	G G	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG04115.hp1 HG03942.hp2 HG04115.hp1	a0004 a0029 a0004 a0029	a0004c0004 a0029c0052 a0004c0004 a0029c0052	a0004c0004t0001 a0029c0052t0001 a0004c0004t0001 a0029c0052t0001	a0004c0004t0001g0184 a0029c0052t0001g0180 a0004c0004t0001g0184 a0029c0052t0001g0180	2	374	0.0053	-30	c.198 others(47): Show c.1983+188_1983+217delTTGAGATGAAGGGTGGGTGCCAAGGGGG AG		TUBGCP6	ENSG00000128159.12	transcript	ENST00000248846.10	protein_coding	10/24						chr22	TogoVar
TUBGCP6_chr22_50212694_50250023	50225587	GCACCCAC others(23): Show GCACCCACCCTTCATCTCAACTCCCCGTTGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00544.hp2 others(98): Show HG00099.hp2 HG00408.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp1 HG01109.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01517.hp2 HG01891.hp2 HG01943.hp1 HG02027.hp1 HG02055.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02257.hp2 HG02486.hp1 HG02630.hp1 HG02647.hp2 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03579.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp2 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18959.hp2 NA18961.hp1 NA18964.hp1 NA18969.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18986.hp2 NA18989.hp2 NA18992.hp2 NA18994.hp2 NA18998.hp1 NA19003.hp1 NA19004.hp1 NA19010.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0011 a0027 a0028 a0031 a0038	a0001c0001 a0001c0005 a0001c0012 others(21): Show a0001c0001 a0001c0005 a0001c0012 a0001c0063 a0001c0070 a0002c0002 a0002c0017 a0002c0041 a0002c0044 a0003c0003 a0003c0022 a0003c0057 a0004c0004 a0004c0054 a0005c0006 a0006c0010 a0006c0016 a0007c0008 a0009c0009 a0011c0015 a0027c0049 a0028c0061 a0031c0076 a0038c0072	a0001c0001t0002 a0001c0005t0002 a0001c0005t0003 others(22): Show a0001c0001t0002 a0001c0005t0002 a0001c0005t0003 a0001c0012t0001 a0001c0063t0002 a0001c0070t0002 a0002c0002t0001 a0002c0017t0002 a0002c0041t0001 a0002c0044t0001 a0003c0003t0001 a0003c0022t0001 a0003c0057t0001 a0004c0004t0001 a0004c0054t0001 a0005c0006t0002 a0006c0010t0002 a0006c0016t0001 a0007c0008t0001 a0009c0009t0001 a0011c0015t0003 a0027c0049t0001 a0028c0061t0002 a0031c0076t0002 a0038c0072t0002	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0005 others(83): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0015 a0001c0001t0002g0020 a0001c0001t0002g0058 a0001c0001t0002g0063 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0096 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0005t0002g0045 a0001c0005t0002g0047 a0001c0005t0002g0054 a0001c0005t0003g0373 a0001c0005t0003g0374 a0001c0012t0001g0222 a0001c0063t0002g0082 a0001c0070t0002g0123 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0204 a0002c0002t0001g0225 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0318 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0017t0002g0087 a0002c0017t0002g0088 a0002c0017t0002g0122 a0002c0041t0001g0317 a0002c0044t0001g0320 a0003c0003t0001g0004 a0003c0003t0001g0011 a0003c0003t0001g0158 a0003c0003t0001g0229 a0003c0003t0001g0266 a0003c0003t0001g0281 a0003c0003t0001g0283 a0003c0022t0001g0215 a0003c0022t0001g0221 a0003c0057t0001g0241 a0004c0004t0001g0003 a0004c0004t0001g0022 a0004c0004t0001g0176 a0004c0054t0001g0153 a0005c0006t0002g0133 a0005c0006t0002g0134 a0005c0006t0002g0135 a0005c0006t0002g0137 a0005c0006t0002g0140 a0005c0006t0002g0142 a0005c0006t0002g0143 a0005c0006t0002g0144 a0005c0006t0002g0146 a0005c0006t0002g0147 a0005c0006t0002g0148 a0005c0006t0002g0149 a0006c0010t0002g0091 a0006c0016t0001g0028 a0006c0016t0001g0259 a0007c0008t0001g0160 a0007c0008t0001g0162 a0007c0008t0001g0164 a0009c0009t0001g0275 a0011c0015t0003g0036 a0011c0015t0003g0349 a0011c0015t0003g0350 a0027c0049t0001g0257 a0028c0061t0002g0059 a0031c0076t0002g0136 a0038c0072t0002g0132	101	427	0.2365	-30	c.198 others(47): Show c.1983+177_1983+206delTCAACGGGGAGTTGAGATGAAGGGTGGG TG		TUBGCP6	ENSG00000128159.12	transcript	ENST00000248846.10	protein_coding	10/24						chr22	TogoVar
TUBGCP6_chr22_50212694_50250023	50225613	GTTGACAC others(23): Show GTTGACACCCACCCTTCATCTCAACTCCCCC	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0242 a0003c0003t0001g0242	1	424	0.0024	-30	c.198 others(47): Show c.1983+151_1983+180delGGGGGAGTTGAGATGAAGGGTGGGTGTC AA		TUBGCP6	ENSG00000128159.12	transcript	ENST00000248846.10	protein_coding	10/24						chr22	TogoVar
TUBGCP6_chr22_50212694_50250023	50225617	ACACCCAC others(23): Show ACACCCACCCTTCATCTCAACTCCCCCTTGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02165.hp2 others(8): Show HG01891.hp1 HG02109.hp2 HG02165.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02818.hp2 NA19070.hp1 NA19082.hp2 NA20300.hp2	a0001 a0024 a0001 a0024	a0001c0001 a0001c0005 a0001c0012 others(3): Show a0001c0001 a0001c0005 a0001c0012 a0001c0027 a0001c0062 a0024c0032	a0001c0001t0002 a0001c0005t0001 a0001c0005t0002 others(4): Show a0001c0001t0002 a0001c0005t0001 a0001c0005t0002 a0001c0012t0001 a0001c0027t0004 a0001c0062t0002 a0024c0032t0001	a0001c0001t0002g0005 a0001c0005t0001g0210 a0001c0005t0001g0299 others(6): Show a0001c0001t0002g0005 a0001c0005t0001g0210 a0001c0005t0001g0299 a0001c0005t0002g0049 a0001c0005t0002g0057 a0001c0012t0001g0027 a0001c0027t0004g0336 a0001c0062t0002g0108 a0024c0032t0001g0150	11	421	0.0261	-30	c.198 others(47): Show c.1983+147_1983+176delCCAAGGGGGAGTTGAGATGAAGGGTGGG TG		TUBGCP6	ENSG00000128159.12	transcript	ENST00000248846.10	protein_coding	10/24						chr22	TogoVar
TULP3_chr12_2885891_2946138	2906015	CTGTGTAA others(23): Show CTGTGTAAAAAAAAAAAATTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18522.hp1 HG02109.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0247 a0001c0001t0007g0331 a0001c0001t0007g0247 a0001c0001t0007g0331	2	370	0.0054	-30	c.42- others(45): Show c.42-3512_42-3483delGTGTAAAAAAAAAAAATTTTTTTTTTTTTT		TULP3	ENSG00000078246.17	transcript	ENST00000448120.7	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
TVP23A_chr16_10761675_10823794	10820454	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0039 a0001c0001t0038g0039	1	301	0.0033	-30	c.-19 others(41): Show c.-1991_-1962delTATATATATATATATATATATATATATATA		TVP23A	ENSG00000166676.17	transcript	ENST00000299866.13	protein_coding					1661		chr16	TogoVar
TVP23C_chr17_15531980_15568483	15563602	AGGGGCGG others(23): Show AGGGGCGGGGCGAGCGGGGGCGGGGCGAGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(107): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00738.hp1 HG01071.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01516.hp1 HG01517.hp1 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02922.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03490.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp1 NA18612.hp1 NA18747.hp2 NA18940.hp2 NA18942.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18954.hp2 NA18955.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp2 NA19012.hp2 NA19055.hp1 NA19055.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19075.hp1 NA19076.hp1 NA19076.hp2 NA19080.hp1 NA19083.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0031 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0031 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0034 a0002c0002t0037 a0002c0002t0038	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(84): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0004g0004 a0001c0001t0004g0148 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0165 a0001c0001t0004g0184 a0001c0001t0031g0111 a0002c0002t0002g0008 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0021 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0237 a0002c0002t0002g0241 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0249 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0255 a0002c0002t0002g0258 a0002c0002t0002g0265 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0003g0002 a0002c0002t0003g0005 a0002c0002t0003g0019 a0002c0002t0003g0020 a0002c0002t0003g0041 a0002c0002t0003g0197 a0002c0002t0003g0209 a0002c0002t0003g0214 a0002c0002t0003g0218 a0002c0002t0003g0219 a0002c0002t0003g0223 a0002c0002t0003g0224 a0002c0002t0003g0225 a0002c0002t0003g0227 a0002c0002t0003g0228 a0002c0002t0003g0229 a0002c0002t0003g0230 a0002c0002t0003g0231 a0002c0002t0005g0027 a0002c0002t0005g0030 a0002c0002t0005g0078 a0002c0002t0005g0082 a0002c0002t0005g0083 a0002c0002t0005g0086 a0002c0002t0005g0090 a0002c0002t0005g0091 a0002c0002t0005g0092 a0002c0002t0005g0093 a0002c0002t0005g0094 a0002c0002t0005g0095 a0002c0002t0005g0096 a0002c0002t0005g0097 a0002c0002t0005g0098 a0002c0002t0034g0211 a0002c0002t0037g0201 a0002c0002t0038g0196	110	150	0.7333	-30	c.-18 others(39): Show c.-184_-155delCGCTCGCCCCGCCCCCGCTCGCCCCGCCCC		TVP23C	ENSG00000175106.17	transcript	ENST00000518321.6	protein_coding					120		chr17	TogoVar
TWSG1_chr18_9329773_9407420	9343210	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01109.hp2 HG02738.hp2 HG01099.hp1 HG01109.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0265	3	16	0.1875	-30	c.123 others(47): Show c.123+5880_123+5909delATATATATATATATATATATATATATAT AT		TWSG1	ENSG00000128791.12	transcript	ENST00000262120.10	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr18	TogoVar
TXNDC8_chr9_110298476_110342863	110305827	CTTTCTTT others(23): Show CTTTCTTTTCCTTTCTTTTCTTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	301	0.0033	-30	c.196 others(47): Show c.196-1325_196-1296delAAGAAAGAAAAGAAAAGAAAGGAAAAGA AA		TXNDC8	ENSG00000204193.12	transcript	ENST00000423740.7	protein_coding	3/4						chr9	TogoVar
TXNL4A_chr18_79965813_79993563	79969312	GGAAAGAA others(23): Show GGAAAGAAAGAAAGAAAGAAAAAGAAAGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0027 a0001c0001t0009g0027	1	185	0.0054	-30	c.43 others(41): Show c.4343_*4372delTTTCTTTCTTTTTCTTTCTTTCTTTCTTTC		TXNL4A	ENSG00000141759.15	transcript	ENST00000269601.10	protein_coding					1500		chr18	TogoVar
TXNRD1_chr12_104210779_104355307	104290729	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01256.hp2 HG01257.hp2 others(12): Show HG00642.hp2 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG02572.hp1 HG02630.hp1 HG02976.hp2 HG03453.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp2 NA18982.hp2 NA19085.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0003 a0001c0004t0003 others(1): Show a0001c0001t0001 a0001c0003t0003 a0001c0004t0003 a0001c0004t0006	a0001c0001t0001g0174 a0001c0003t0003g0113 a0001c0003t0003g0114 others(12): Show a0001c0001t0001g0174 a0001c0003t0003g0113 a0001c0003t0003g0114 a0001c0003t0003g0115 a0001c0003t0003g0117 a0001c0003t0003g0121 a0001c0003t0003g0122 a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0004t0003g0089 a0001c0004t0003g0279 a0001c0004t0006g0090 a0001c0004t0006g0091	15	300	0.0500	-30	c.414 others(47): Show c.414+1695_414+1724delATATATATATATATATATATATATGTAT AT		TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
TYK2_chr19_10345533_10385572	10378833	ATATCTTA others(23): Show ATATCTTATCTTATCTTATCTTATCTTATCT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0010 a0008c0010t0010	a0008c0010t0010g0045 a0008c0010t0010g0045	1	81	0.0123	-30	c.-20 others(45): Show c.-20-437_-20-408delAGATAAGATAAGATAAGATAAGATAAGATA		TYK2	ENSG00000105397.15	transcript	ENST00000525621.6	protein_coding	2/24						chr19	TogoVar
TYMS_chr18_652653_678578	666888	GGGAGATG others(23): Show GGGAGATGGTGATGGAGATGGTGATGGTGAT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01257.hp2 HG01258.hp2 HG00280.hp2 HG01257.hp2 HG01258.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0003 a0001c0001t0003 a0002c0003t0003	a0001c0001t0003g0261 a0002c0003t0003g0046 a0001c0001t0003g0261 a0002c0003t0003g0046	3	443	0.0068	-30	c.455 others(47): Show c.455-2169_455-2140delAGATGGTGATGGTGATGGAGATGGTGAT GG		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	666933	TGATGGAG others(23): Show TGATGGAGATGGTGATGGTGATGGAGATGGA	T T	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02109.hp2 NA19057.hp2 others(1): Show HG02004.hp1 HG02109.hp2 NA19057.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0097 a0001c0001t0004g0289 a0001c0001t0004g0348 others(1): Show a0001c0001t0004g0097 a0001c0001t0004g0289 a0001c0001t0004g0348 a0001c0001t0004g0349	4	381	0.0105	-30	c.455 others(47): Show c.455-2133_455-2104delAGATGGTGATGGTGATGGAGATGGAGAT GG		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	666957	AGATGGAG others(23): Show AGATGGAGATGGTGATGGAGATGGAGATGGT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0069 a0001c0001t0012g0069	1	339	0.0029	-30	c.455 others(47): Show c.455-2109_455-2080delAGATGGTGATGGAGATGGAGATGGTGAT GG		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667029	TGATGGAG others(23): Show TGATGGAGATGGTGATGGTGATGGAGATGGA	T T	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02258.hp2 HG01517.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0294 a0001c0001t0002g0340 a0001c0001t0002g0294 a0001c0001t0002g0340	2	426	0.0047	-30	c.455 others(47): Show c.455-2037_455-2008delAGATGGTGATGGTGATGGAGATGGAGAT GG		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667346	AGATGGTG others(23): Show AGATGGTGATGGTGATGGAGATGGTGATGGT	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0206 a0001c0001t0008g0206	1	317	0.0032	-30	c.455 others(47): Show c.455-1726_455-1697delAGATGGTGATGGTGATGGAGATGGTGAT GG		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6						chr18	TogoVar
TYMS_chr18_652653_678578	667523	TGATGGAG others(23): Show TGATGGAGATGGTGATGGTGATGGTGATGGA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0287 a0001c0001t0004g0287	1	424	0.0024	-30	c.455 others(47): Show c.455-1543_455-1514delAGATGGTGATGGTGATGGTGATGGAGAT GG		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
TYSND1_chr10_70132981_70151700	70133098	AAGAGAGA others(23): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG03209.hp1 NA18949.hp1 others(4): Show HG02135.hp1 HG03209.hp1 NA18949.hp1 NA18954.hp1 NA18995.hp2 NA18998.hp2 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0004 a0002c0001t0001 a0001c0002t0004 a0002c0001t0001	a0001c0002t0004g0013 a0002c0001t0001g0001 a0002c0001t0001g0006 a0001c0002t0004g0013 a0002c0001t0001g0001 a0002c0001t0001g0006	7	55	0.1273	-30	c.67 others(41): Show c.6796_*6825delCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT		TYSND1	ENSG00000156521.14	transcript	ENST00000287078.7	protein_coding					4882		chr10	TogoVar
TYW1_chr7_66991833_67244514	67184591	CATTTTAT others(23): Show CATTTTATTTTATTTTATTTTATTTTATTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0203 a0003c0005t0002g0203	1	126	0.0079	-30	c.180 others(49): Show c.1809+1385_1809+1414delTATTTTATTTTATTTTATTTTATTTT ATTT		TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
UBAP1_chr9_34174043_34257523	34182643	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02132.hp1 NA18960.hp1 others(5): Show HG01993.hp1 HG02132.hp1 NA18960.hp1 NA18977.hp1 NA19010.hp2 NA19011.hp1 NA19090.hp1 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0003 a0001c0001t0001 a0004c0004t0003	a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0041 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0057 a0004c0004t0003g0044	8	265	0.0302	-30	c.-8+ others(45): Show c.-8+3405_-8+3434delTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT		UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP1_chr9_34174043_34257523	34182647	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01496.hp1 HG02965.hp2 others(2): Show HG01074.hp1 HG01496.hp1 HG02965.hp2 HG03225.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0117 a0001c0001t0001g0261 a0001c0001t0001g0262 others(2): Show a0001c0001t0001g0117 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0011g0075	5	340	0.0147	-30	c.-8+ others(45): Show c.-8+3409_-8+3438delTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT		UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr9	TogoVar
UBD_chr6_29550515_29564732	29563196	TATAGAAG others(23): Show TATAGAAGGGTGTGACTCGCGGATGGAGTAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0008 a0003c0003t0001g0008	1	462	0.0022	-30	c.-35 others(41): Show c.-3525_-3496delTTACTCCATCCGCGAGTCACACCCTTCTAT		UBD	ENSG00000213886.4	transcript	ENST00000377050.5	protein_coding					3465		chr6	TogoVar
UBE2C_chr20_45807644_45821952	45814271	CATATATA others(23): Show CATATATATATATATATATATATATATATAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00741.hp2 HG01243.hp1 others(53): Show HG00544.hp2 HG00741.hp2 HG01243.hp1 HG01243.hp2 HG01884.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG03041.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03654.hp1 HG04115.hp1 HG06807.hp2 NA18906.hp2 NA18942.hp2 NA18950.hp2 NA18968.hp1 NA18973.hp2 NA18983.hp2 NA18994.hp2 NA19000.hp1 NA19002.hp1 NA19010.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp1 NA19066.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 others(14): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0077 a0002c0002t0001g0006 a0002c0002t0001g0009 a0002c0002t0001g0026 a0002c0002t0001g0032 a0002c0002t0001g0051 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0073	56	136	0.4118	-30	c.130 others(44): Show c.130-111_130-82delTATATATATATATATATATATATATATAAA		UBE2C	ENSG00000175063.17	transcript	ENST00000356455.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr20	TogoVar
UBE2G1_chr17_4264259_4371675	4279785	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG02622.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0014 a0001c0001t0015g0015 a0001c0001t0015g0014 a0001c0001t0015g0015	2	8	0.2500	-30	c.37 others(47): Show c.37+2983_*37+3012delTATATATATATATATATATATATATATA TA		UBE2G1	ENSG00000132388.13	transcript	ENST00000396981.7	protein_coding	5/5						chr17	TogoVar
UBE2Q2_chr15_75838447_75906078	75842867	CGGTGAGA others(23): Show CGGTGAGAAGGTCCTCACAGGAACCCAGGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02083.hp2 NA19054.hp1 HG02080.hp2 HG02083.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0122 a0001c0001t0001g0287 a0001c0001t0001g0015 a0001c0001t0001g0122 a0001c0001t0001g0287	3	352	0.0085	-30	c.-79 others(39): Show c.-799_-770delGGTGAGAAGGTCCTCACAGGAACCCAGGCT		UBE2Q2	ENSG00000140367.12	transcript	ENST00000267938.9	protein_coding					579		chr15	TogoVar
UBE2QL1_chr5_6443859_6501723	6447440	ACACACTC others(23): Show ACACACTCACACACCACACACCACACACACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03486.hp2 NA20300.hp1 HG03139.hp1 HG03486.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0204 a0001c0001t0003g0020 a0001c0001t0003g0204	3	338	0.0089	-30	c.-14 others(41): Show c.-1453_-1424delCACACTCACACACCACACACCACACACACT		UBE2QL1	ENSG00000215218.4	transcript	ENST00000399816.4	protein_coding					1418		chr5	TogoVar
UBE3C_chr7_157133926_157274370	157274234	TTCCTCAA others(23): Show TTCCTCAAATGTTACACACACAGCAGCAAGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	320	0.0031	-30	c.64 others(41): Show c.6480_*6509delTCCTCAAATGTTACACACACAGCAGCAAGC		UBE3C	ENSG00000009335.19	transcript	ENST00000348165.10	protein_coding					4865		chr7	TogoVar
UBL3_chr13_29759371_29855617	29788862	TGTGTGTG others(23): Show TGTGTGTGTGCGCGCGCGCGCGCACGCGCAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG01099.hp2 others(13): Show HG00323.hp2 HG00733.hp2 HG01099.hp2 HG01168.hp2 HG01192.hp1 HG01358.hp2 HG01433.hp2 HG01884.hp1 HG01934.hp2 HG01978.hp1 HG02451.hp2 HG02735.hp1 HG02886.hp1 HG03834.hp2 NA19030.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0018 others(2): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0018 a0001c0001t0030 a0001c0001t0035	a0001c0001t0002g0244 a0001c0001t0002g0254 a0001c0001t0002g0256 others(13): Show a0001c0001t0002g0244 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0315 a0001c0001t0015g0359 a0001c0001t0015g0360 a0001c0001t0015g0361 a0001c0001t0018g0367 a0001c0001t0018g0368 a0001c0001t0030g0105 a0001c0001t0035g0259	16	389	0.0411	-30	c.28- others(47): Show c.28-11629_28-11600delGTGCGCGTGCGCGCGCGCGCGCACACAC AC		UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4						chr13	TogoVar
UBL3_chr13_29759371_29855617	29788870	TGCGCGCG others(23): Show TGCGCGCGCGCGCGCACGCGCACGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0328 a0001c0001t0014g0329 a0001c0001t0014g0328 a0001c0001t0014g0329	2	368	0.0054	-30	c.28- others(47): Show c.28-11637_28-11608delGCACACACGTGCGCGTGCGCGCGCGCGC GC		UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4						chr13	TogoVar
UBL3_chr13_29759371_29855617	29788872	CGCGCGCG others(23): Show CGCGCGCGCGCGCACGCGCACGTGTGTGCGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(149): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02895.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18991.hp2 NA18994.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19060.hp1 NA19063.hp2 NA19068.hp1 NA19075.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19089.hp2 NA19090.hp2 NA19240.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0033 a0001c0001t0034 a0002c0003t0003	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(142): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0353 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0046 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0075 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0006g0097 a0001c0001t0012g0369 a0001c0001t0012g0371 a0001c0001t0012g0372 a0001c0001t0012g0373 a0001c0001t0013g0100 a0001c0001t0013g0101 a0001c0001t0013g0104 a0001c0001t0016g0015 a0001c0001t0016g0016 a0001c0001t0017g0203 a0001c0001t0017g0211 a0001c0001t0020g0022 a0001c0001t0023g0030 a0001c0001t0024g0031 a0001c0001t0025g0055 a0001c0001t0028g0099 a0001c0001t0033g0124 a0001c0001t0034g0212 a0002c0003t0003g0083	152	347	0.4380	-30	c.28- others(47): Show c.28-11639_28-11610delACGCACACACGTGCGCGTGCGCGCGCGC GC		UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4						chr13	TogoVar
UBL3_chr13_29759371_29855617	29835089	AATATATA others(23): Show AATATATATATATATATAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	292	0.0034	-30	c.27+ others(47): Show c.27+14393_27+14422delATATATATATATTTATATATATATATAT AT		UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4						chr13	TogoVar
UBL3_chr13_29759371_29855617	29835095	TATATATA others(23): Show TATATATATATAAATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02922.hp2 HG03139.hp2 others(3): Show HG01243.hp2 HG02922.hp2 HG03139.hp2 HG03209.hp2 NA18947.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0272 a0001c0001t0002g0296 a0001c0001t0007g0014 others(2): Show a0001c0001t0002g0272 a0001c0001t0002g0296 a0001c0001t0007g0014 a0001c0001t0007g0364 a0001c0001t0007g0365	6	390	0.0154	-30	c.27+ others(47): Show c.27+14387_27+14416delTTATATATATATATATATTTATATATAT AT		UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4						chr13	TogoVar
UBL3_chr13_29759371_29855617	29835107	AATATATA others(23): Show AATATATATATATATATAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01167.hp1 HG01256.hp1 others(28): Show HG00609.hp2 HG01167.hp1 HG01256.hp1 HG01993.hp2 HG02040.hp2 HG02074.hp1 HG02083.hp1 HG02132.hp1 HG02155.hp1 HG02300.hp2 HG02523.hp2 HG02683.hp1 HG02683.hp2 HG03490.hp1 HG03704.hp2 HG04115.hp2 HG04199.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18954.hp2 NA18964.hp2 NA18966.hp1 NA18975.hp1 NA18978.hp1 NA18987.hp1 NA18991.hp2 NA19002.hp1 NA19010.hp1 NA19068.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0001t0017 a0001c0001t0020 a0001c0001t0034	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0183 others(28): Show a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0227 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0004g0169 a0001c0001t0004g0172 a0001c0001t0013g0103 a0001c0001t0017g0203 a0001c0001t0017g0211 a0001c0001t0020g0022 a0001c0001t0034g0212	31	340	0.0912	-30	c.27+ others(47): Show c.27+14375_27+14404delATATATATATATTTATATATATATATAT AT		UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4						chr13	TogoVar
UBL3_chr13_29759371_29855617	29835125	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18965.hp2 NA18973.hp2 others(3): Show HG02965.hp1 NA18965.hp2 NA18973.hp2 NA18979.hp1 NA18985.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 others(3): Show a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0226 a0001c0001t0001g0355 a0001c0001t0013g0101	6	278	0.0216	-30	c.27+ others(47): Show c.27+14357_27+14386delATATATATATATATATATATATATATAT AT		UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4						chr13	TogoVar
UBL4B_chr1_110107443_110118947	110113133	TACTACTT others(23): Show TACTACTTCCTGCTGATGTGGATGCGTCCAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	394	0.0025	-30	c.77 others(38): Show c.77_*106delTACTTCCTGCTGATGTGGATGCGTCCACAC		UBL4B	ENSG00000186150.5	transcript	ENST00000334179.5	protein_coding	1/1				77	INFO_REALIGN_3_PRIME	chr1	TogoVar
UBR2_chr6_42559029_42698505	42607680	GGGAGGAC others(23): Show GGGAGGACAGGCATGTCCCACCACTCCCAGC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01978.hp2 others(9): Show HG01167.hp1 HG01169.hp1 HG01978.hp2 HG02602.hp1 HG02630.hp2 HG02717.hp1 HG02818.hp2 HG03209.hp2 HG03516.hp1 HG06807.hp1 NA18955.hp1 NA18963.hp2	a0002 a0004 a0002 a0004	a0002c0004 a0004c0010 a0002c0004 a0004c0010	a0002c0004t0004 a0004c0010t0009 a0002c0004t0004 a0004c0010t0009	a0002c0004t0004g0105 a0002c0004t0004g0107 a0002c0004t0004g0111 others(9): Show a0002c0004t0004g0105 a0002c0004t0004g0107 a0002c0004t0004g0111 a0002c0004t0004g0119 a0002c0004t0004g0124 a0002c0004t0004g0131 a0002c0004t0004g0140 a0002c0004t0004g0143 a0002c0004t0004g0146 a0004c0010t0009g0004 a0004c0010t0009g0005 a0004c0010t0009g0006	12	294	0.0408	-30	c.864 others(47): Show c.864+1030_864+1059delGGAGGACAGGCATGTCCCACCACTCCCA GC		UBR2	ENSG00000024048.11	transcript	ENST00000372901.2	protein_coding	7/46						chr6	TogoVar
UBR3_chr2_169822454_170089131	169836015	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTA	C C	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	322	0.0031	-30	c.545 others(47): Show c.545+7965_545+7994delCTCTCTCTCTCTCTCTCTCTCTCTCTCT AT		UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38					INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169838387	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG02970.hp1 others(1): Show HG02257.hp2 HG02451.hp2 HG02970.hp1 NA19072.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0002 a0001c0006t0005 a0001c0006t0022 a0001c0002t0002 a0001c0006t0005 a0001c0006t0022	a0001c0002t0002g0121 a0001c0006t0005g0267 a0001c0006t0005g0269 others(1): Show a0001c0002t0002g0121 a0001c0006t0005g0267 a0001c0006t0005g0269 a0001c0006t0022g0268	4	56	0.0714	-30	c.545 others(49): Show c.545+10367_545+10396delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT		UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38					INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	170017522	GACACACA others(23): Show GACACACACACACACACACACACAGACACAC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02717.hp2 HG02818.hp2 others(7): Show HG02280.hp2 HG02717.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03453.hp2 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0005 a0001c0003t0018 a0001c0003t0003 a0001c0003t0005 a0001c0003t0018	a0001c0003t0003g0242 a0001c0003t0003g0243 a0001c0003t0003g0244 others(7): Show a0001c0003t0003g0242 a0001c0003t0003g0243 a0001c0003t0003g0244 a0001c0003t0003g0245 a0001c0003t0005g0252 a0001c0003t0005g0253 a0001c0003t0005g0254 a0001c0003t0005g0255 a0001c0003t0005g0256 a0001c0003t0018g0240	10	207	0.0483	-30	c.445 others(49): Show c.4453+2180_4453+2209delGACACACACACACACACACACACACA CACA		UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	30/38					INFO_REALIGN_3_PRIME	chr2	TogoVar
UBXN11_chr1_26277282_26311636	26282338	GCCGGGAC others(23): Show GCCGGGACCGGGACCGGGACTGGGGCCGGGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00642.hp1 HG01099.hp2 HG00642.hp1 HG01099.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0006 a0002c0001t0001g0032 a0002c0001t0001g0006 a0002c0001t0001g0032	2	359	0.0056	-30	c.149 others(39): Show c.1494_1523delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGG	p.Pro others(13): Show p.Pro499_Gly508del	UBXN11	ENSG00000158062.21	transcript	ENST00000374222.6	protein_coding	15/15	1603/1660	1494/1563	498/520			chr1	TogoVar
UBXN11_chr1_26277282_26311636	26282362	GCCGGGAC others(23): Show GCCGGGACCGGGACCGGGACTGGGGCCGGGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp1 HG00544.hp2 HG00733.hp2 others(66): Show HG00323.hp1 HG00544.hp2 HG00733.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01358.hp2 HG01952.hp2 HG02056.hp2 HG02071.hp1 HG02258.hp2 HG02293.hp1 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18949.hp1 NA18952.hp1 NA18965.hp2 NA18966.hp2 NA18970.hp2 NA18975.hp2 NA18977.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA19009.hp2 NA19012.hp2 NA19043.hp2 NA19057.hp1 NA19062.hp1 NA19067.hp1 NA19072.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA21309.hp1	a0003 a0012 a0018 others(1): Show a0003 a0012 a0018 a0020	a0003c0003 a0003c0022 a0012c0028 others(2): Show a0003c0003 a0003c0022 a0012c0028 a0018c0031 a0020c0027	a0003c0003t0001 a0003c0022t0001 a0012c0028t0001 others(2): Show a0003c0003t0001 a0003c0022t0001 a0012c0028t0001 a0018c0031t0001 a0020c0027t0001	a0003c0003t0001g0003 a0003c0003t0001g0009 a0003c0003t0001g0010 others(44): Show a0003c0003t0001g0003 a0003c0003t0001g0009 a0003c0003t0001g0010 a0003c0003t0001g0028 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0050 a0003c0003t0001g0051 a0003c0003t0001g0126 a0003c0003t0001g0181 a0003c0003t0001g0182 a0003c0003t0001g0187 a0003c0003t0001g0188 a0003c0003t0001g0189 a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0195 a0003c0003t0001g0196 a0003c0003t0001g0197 a0003c0003t0001g0199 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0206 a0003c0003t0001g0207 a0003c0003t0001g0208 a0003c0003t0001g0209 a0003c0003t0001g0210 a0003c0003t0001g0211 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0001g0223 a0003c0003t0001g0224 a0003c0022t0001g0106 a0012c0028t0001g0217 a0018c0031t0001g0214 a0020c0027t0001g0193	69	367	0.1880	-30	c.147 others(39): Show c.1470_1499delTCCCGGCCCCAGTCCCGGTCCCGGTCCCGG	p.Pro others(13): Show p.Pro491_Gly500del	UBXN11	ENSG00000158062.21	transcript	ENST00000374222.6	protein_coding	15/15	1579/1660	1470/1563	490/520			chr1	TogoVar
UCN3_chr10_5359966_5379692	5370625	GCGTGTGT others(23): Show GCGTGTGTATGTGTGTGTATATGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01516.hp2 HG01074.hp1 HG01516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0013 a0002c0002t0003 a0002c0002t0013	a0002c0002t0003g0121 a0002c0002t0013g0118 a0002c0002t0003g0121 a0002c0002t0013g0118	2	466	0.0043	-30	c.-6- others(45): Show c.-6-3089_-6-3060delCGTGTGTATGTGTGTGTATATGTGTGTGTA		UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1						chr10	TogoVar
UEVLD_chr11_18524609_18593734	18575883	TGTCAACA others(23): Show TGTCAACACCTACCTCCACTACGCCCCCTCA	T T	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0081 a0001c0002t0003g0081	1	398	0.0025	-30	c.128 others(45): Show c.128-501_128-472delTGAGGGGGCGTAGTGGAGGTAGGTGTTGAC		UEVLD	ENSG00000151116.17	transcript	ENST00000396197.8	protein_coding	2/11						chr11	TogoVar
UGCG_chr9_111891814_111940369	111911905	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02040.hp1 HG02145.hp1 others(10): Show HG00673.hp1 HG02040.hp1 HG02145.hp1 HG02559.hp1 HG02886.hp1 HG02896.hp2 HG02970.hp2 HG03540.hp1 NA18947.hp1 NA18968.hp2 NA18970.hp1 NA19060.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0016 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0016 a0001c0001t0019 a0001c0001t0054	a0001c0001t0004g0258 a0001c0001t0004g0275 a0001c0001t0004g0276 others(10): Show a0001c0001t0004g0258 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0016g0189 a0001c0001t0016g0330 a0001c0001t0019g0175 a0001c0001t0054g0190	13	163	0.0798	-30	c.99- others(45): Show c.99-2677_99-2648delATATATATATATATATATATATATATATAT		UGCG	ENSG00000148154.10	transcript	ENST00000374279.4	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr9	TogoVar
UGDH_chr4_39493755_39532439	39531983	ACCCAGGC others(23): Show ACCCAGGCTGGAATGCATTGGCATGAACACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	1	414	0.0024	-30	c.-47 others(41): Show c.-4738_-4709delCGTGTTCATGCCAATGCATTCCAGCCTGGG		UGDH	ENSG00000109814.12	transcript	ENST00000316423.11	protein_coding					4545		chr4	TogoVar

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