view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TYMS_chr18_652653_678578 | 667992 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00609.hp2 others(56): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(7): Show | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0016 others(42): Show |
59 | 209 | 0.2823 | 14 | c.455 others(31): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYRO3_chr15_41554212_41588589 | 41560393 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01358.hp1 HG01515.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006a0001c0002t0014others(1): Show | a0001c0002t0002g0015 a0001c0002t0002g0225 a0001c0002t0002g0228 others(4): Show |
8 | 155 | 0.0516 | 14 | c.125 others(29): Show |
TYRO3 | ENSG00000092445.12 | transcript | ENST00000263798.8 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TYRO3_chr15_41554212_41588589 | 41560428 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0156 | 1 | 205 | 0.0049 | 14 | c.125 others(29): Show |
TYRO3 | ENSG00000092445.12 | transcript | ENST00000263798.8 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TYRO3_chr15_41554212_41588589 | 41579508 | C | CCAGGTTT others(7): Show |
3_prime_UTR_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0025 | 1 | 322 | 0.0031 | 14 | c.*12 others(25): Show |
TYRO3 | ENSG00000092445.12 | transcript | ENST00000263798.8 | protein_coding | 19/19 | 1234 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
TYRO3_chr15_41554212_41588589 | 41582997 | G | GTTTTTTT others(7): Show |
3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00438.hp2 others(75): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0019others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(60): Show |
78 | 95 | 0.8211 | 14 | c.*47 others(25): Show |
TYRO3 | ENSG00000092445.12 | transcript | ENST00000263798.8 | protein_coding | 19/19 | 4737 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
TYRO3_chr15_41554212_41588589 | 41584334 | C | CAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0008 a0001c0001t0018g0236 |
2 | 10 | 0.2000 | 14 | c.*60 others(25): Show |
TYRO3 | ENSG00000092445.12 | transcript | ENST00000263798.8 | protein_coding | 746 | chr15 | TogoVar | |||||||
TYR_chr11_89172875_89300759 | 89198754 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 212 | 0.0047 | 14 | c.103 others(33): Show |
TYR | ENSG00000077498.9 | transcript | ENST00000263321.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TYR_chr11_89172875_89300759 | 89202622 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG01074.hp2 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0158 others(8): Show |
11 | 82 | 0.1341 | 14 | c.103 others(35): Show |
TYR | ENSG00000077498.9 | transcript | ENST00000263321.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TYR_chr11_89172875_89300759 | 89298200 | T | TAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 NA18522.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0284 a0001c0004t0001g0285 |
2 | 220 | 0.0091 | 14 | c.*28 others(25): Show |
TYR | ENSG00000077498.9 | transcript | ENST00000263321.6 | protein_coding | 2442 | chr11 | TogoVar | |||||||
TYSND1_chr10_70132981_70151700 | 70136527 | T | TTGTGTGT others(7): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 NA19088.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0005t0005 | a0001c0002t0002g0018 a0001c0005t0005g0011 |
2 | 25 | 0.0800 | 14 | c.*33 others(25): Show |
TYSND1 | ENSG00000156521.14 | transcript | ENST00000287078.7 | protein_coding | 1453 | chr10 | TogoVar | |||||||
TYSND1_chr10_70132981_70151700 | 70149547 | A | ATTTTTTT others(7): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 HG03041.hp2 HG03942.hp2 others(11): Show |
a0001a0002a0003 | a0001c0002a0001c0005a0002c0001others(1): Show | a0001c0002t0005a0001c0005t0005a0002c0001t0001others(2): Show | a0001c0002t0005g0027 a0001c0002t0005g0028 a0001c0002t0005g0030 others(5): Show |
14 | 38 | 0.3684 | 14 | c.-29 others(25): Show |
TYSND1 | ENSG00000156521.14 | transcript | ENST00000287078.7 | protein_coding | 2848 | chr10 | TogoVar | |||||||
TYSND1_chr10_70132981_70151700 | 70151259 | C | CAAAAAAA others(7): Show |
upstream_gene_variant | MODIFIER | HG01071.hp2 HG01361.hp1 HG02293.hp1 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0001 | 4 | 20 | 0.2000 | 14 | c.-46 others(25): Show |
TYSND1 | ENSG00000156521.14 | transcript | ENST00000287078.7 | protein_coding | 4560 | chr10 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72570242 | C | CAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG02735.hp1 HG02922.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0018a0002c0003others(2): Show | a0001c0002t0001a0001c0018t0001a0002c0003t0001others(3): Show | a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0230 others(8): Show |
11 | 100 | 0.1100 | 14 | c.*52 others(25): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 4270 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72602833 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18955.hp1 NA19065.hp2 |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0004 | a0001c0002t0001a0002c0003t0001a0003c0004t0001 | a0001c0002t0001g0224 a0002c0003t0001g0155 a0003c0004t0001g0102 |
3 | 26 | 0.1154 | 14 | c.178 others(35): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 13/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72672473 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01993.hp1 HG02165.hp1 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0006a0001c0007others(4): Show | a0001c0002t0001a0001c0006t0001a0001c0007t0001others(4): Show | a0001c0002t0001g0209 a0001c0002t0001g0249 a0001c0006t0001g0141 others(14): Show |
17 | 20 | 0.8500 | 14 | c.150 others(35): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 11/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72734257 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0010 | a0010c0013 | a0010c0013t0004 | a0010c0013t0004g0001 | 1 | 196 | 0.0051 | 14 | c.108 others(33): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72734268 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02155.hp2 NA18950.hp1 NA18971.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0022 others(1): Show |
4 | 169 | 0.0237 | 14 | c.108 others(33): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72830534 | A | AGGGCGGG others(7): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 HG02647.hp2 |
a0001 | a0001c0006a0001c0007 | a0001c0006t0001a0001c0007t0001 | a0001c0006t0001g0191 a0001c0007t0001g0188 |
2 | 268 | 0.0075 | 14 | c.-24 others(25): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 2335 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72830536 | G | GGCGGGGG others(7): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 HG03195.hp1 HG03195.hp2 |
a0002a0005 | a0002c0003a0005c0008 | a0002c0003t0001a0005c0008t0001a0005c0008t0006 | a0002c0003t0001g0124 a0005c0008t0001g0011 a0005c0008t0006g0010 |
3 | 220 | 0.0136 | 14 | c.-24 others(25): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 2337 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72830538 | C | CGGGGGGG others(7): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 NA19054.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0007t0001 | a0001c0002t0001g0237 a0001c0007t0001g0274 |
2 | 213 | 0.0094 | 14 | c.-24 others(25): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 2339 | chr7 | TogoVar | |||||||
TYW1_chr7_66991833_67244514 | 67029415 | G | GTGTATAT others(7): Show |
intron_variant | MODIFIER | NA18985.hp1 NA18990.hp1 |
a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0282 a0002c0004t0004g0300 |
2 | 247 | 0.0081 | 14 | c.984 others(31): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67079171 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 27 | 0.0370 | 14 | c.127 others(33): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67172430 | C | CCTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG03098.hp2 |
a0004 | a0004c0006a0004c0011 | a0004c0006t0005a0004c0011t0005 | a0004c0006t0005g0008 a0004c0006t0005g0364 a0004c0011t0005g0354 |
3 | 316 | 0.0095 | 14 | c.169 others(35): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 13/15 | chr7 | TogoVar | |||||||
TYW1_chr7_66991833_67244514 | 67207681 | C | CTTCTTTT others(7): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0235 | 1 | 128 | 0.0078 | 14 | c.197 others(35): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67211150 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01496.hp1 HG02698.hp2 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0013 | a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0228 others(5): Show |
8 | 91 | 0.0879 | 14 | c.197 others(35): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67243603 | C | CGGGGGGG others(7): Show |
downstream_gene_variant | MODIFIER | NA18981.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0298 | 1 | 126 | 0.0079 | 14 | c.*50 others(25): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 4090 | chr7 | TogoVar | |||||||
U2SURP_chr3_142996570_143065725 | 143004573 | A | ACCCCCCC others(7): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01169.hp1 HG01516.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 others(8): Show |
11 | 82 | 0.1341 | 14 | c.45+ others(29): Show |
U2SURP | ENSG00000163714.18 | transcript | ENST00000473835.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
U2SURP_chr3_142996570_143065725 | 143044289 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02615.hp2 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0015a0001c0001t0024 | a0001c0001t0004g0354 a0001c0001t0004g0355 a0001c0001t0015g0019 others(2): Show |
5 | 10 | 0.5000 | 14 | c.254 others(33): Show |
U2SURP | ENSG00000163714.18 | transcript | ENST00000473835.7 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UACA_chr15_70649554_70768558 | 70700318 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0302 | 1 | 264 | 0.0038 | 14 | c.79- others(27): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70718028 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02895.hp2 |
a0001a0005 | a0001c0003a0005c0009 | a0001c0003t0003a0005c0009t0004 | a0001c0003t0003g0296 a0005c0009t0004g0254 |
2 | 187 | 0.0107 | 14 | c.79- others(31): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70718324 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03139.hp2 HG03453.hp1 others(3): Show |
a0001a0006 | a0001c0001a0001c0004a0006c0010 | a0001c0001t0001a0001c0004t0001a0001c0004t0003others(1): Show | a0001c0001t0001g0185 a0001c0001t0001g0197 a0001c0001t0001g0199 others(3): Show |
6 | 22 | 0.2727 | 14 | c.79- others(31): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70749698 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0296 | 1 | 82 | 0.0122 | 14 | c.78+ others(31): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UBA2_chr19_34423381_34476251 | 34456100 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02040.hp2 HG02071.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0047 a0001c0001t0001g0059 others(7): Show |
10 | 166 | 0.0602 | 14 | c.124 others(33): Show |
UBA2 | ENSG00000126261.13 | transcript | ENST00000246548.9 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99232397 | G | GATATATA others(7): Show |
intron_variant | MODIFIER | HG01261.hp1 NA18946.hp2 NA18961.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0307 a0001c0001t0004g0283 a0001c0001t0004g0294 others(1): Show |
4 | 314 | 0.0127 | 14 | c.32- others(29): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99232399 | G | GAGATAGA others(7): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0105 a0001c0001t0002g0313 |
2 | 202 | 0.0099 | 14 | c.32- others(29): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99237271 | T | TATATACA others(7): Show |
intron_variant | MODIFIER | HG00280.hp1 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0064 |
2 | 118 | 0.0169 | 14 | c.32- others(29): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99262710 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01255.hp2 NA18954.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0047 |
2 | 40 | 0.0500 | 14 | c.389 others(33): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99330458 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 16 | 0.0625 | 14 | c.562 others(31): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99338039 | C | CTTTTTTC others(7): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0345 | 1 | 244 | 0.0041 | 14 | c.562 others(31): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99338039 | C | CTTTTTTC others(7): Show |
intron_variant | MODIFIER | HG01081.hp1 NA18974.hp1 NA18977.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0343 a0001c0001t0001g0349 a0001c0001t0001g0360 others(3): Show |
6 | 249 | 0.0241 | 14 | c.562 others(31): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99368688 | A | AGAGTGTG others(7): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 56 | 0.0179 | 14 | c.927 others(29): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99368688 | A | AGTGTGGG others(7): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0324 | 1 | 56 | 0.0179 | 14 | c.927 others(29): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99368688 | A | AGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01106.hp1 NA19054.hp1 NA19070.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0010 a0001c0001t0001g0043 a0001c0001t0001g0046 others(1): Show |
4 | 59 | 0.0678 | 14 | c.927 others(29): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99387368 | G | GACACACA others(7): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0179 a0001c0001t0002g0313 |
2 | 17 | 0.1176 | 14 | c.*20 others(25): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 865 | chr13 | TogoVar | |||||||
UBAP1_chr9_34174043_34257523 | 34182677 | T | TTCTCTCT others(7): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 248 | 0.0040 | 14 | c.-8+ others(29): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34202624 | C | CCTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02738.hp1 NA18984.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0090 a0001c0001t0001g0139 a0001c0001t0001g0146 others(1): Show |
4 | 23 | 0.1739 | 14 | c.-7- others(31): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
UBAP1_chr9_34174043_34257523 | 34202624 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0185 | 1 | 20 | 0.0500 | 14 | c.-7- others(31): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34212392 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00673.hp2 HG01074.hp1 others(12): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0011a0002c0002t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0094 a0001c0001t0001g0102 others(12): Show |
15 | 42 | 0.3571 | 14 | c.-7- others(29): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34219927 | T | TCCCTTCT others(7): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0241 | 1 | 339 | 0.0029 | 14 | c.-7- others(27): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34220056 | C | CCTCCCCT others(7): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(69): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0011a0004c0004t0003 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(69): Show |
72 | 274 | 0.2628 | 14 | c.-7- others(27): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |