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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TUBB4A_chr19_6489319_6507309 | 6497015 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0089 | 1 | 424 | 0.0024 | -17 | c.278 others(32): Show |
TUBB4A | ENSG00000104833.12 | transcript | ENST00000264071.7 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
TUBB4A_chr19_6489319_6507309 | 6497021 | AAAAATAT others(10): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0011a0001c0003t0003 | a0001c0001t0011g0113 a0001c0003t0003g0022 |
2 | 410 | 0.0049 | -17 | c.278 others(32): Show |
TUBB4A | ENSG00000104833.12 | transcript | ENST00000264071.7 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
TUBB4A_chr19_6489319_6507309 | 6497023 | AAATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02615.hp1 HG02630.hp1 others(4): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0003a0001c0003t0010 | a0001c0002t0002g0004 a0001c0003t0003g0022 a0001c0003t0003g0155 others(2): Show |
7 | 387 | 0.0181 | -17 | c.278 others(32): Show |
TUBB4A | ENSG00000104833.12 | transcript | ENST00000264071.7 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
TUBB4A_chr19_6489319_6507309 | 6497025 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG02818.hp1 HG02886.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0010 | a0001c0002t0002g0181 a0001c0003t0010g0013 a0001c0003t0010g0064 others(1): Show |
4 | 369 | 0.0108 | -17 | c.278 others(32): Show |
TUBB4A | ENSG00000104833.12 | transcript | ENST00000264071.7 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
TUBB4A_chr19_6489319_6507309 | 6503194 | AAGCGATT others(10): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00741.hp2 others(63): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(10): Show | a0001c0001t0001g0202 a0001c0001t0005g0212 a0001c0001t0007g0097 others(27): Show |
66 | 426 | 0.1549 | -17 | c.-99 others(26): Show |
TUBB4A | ENSG00000104833.12 | transcript | ENST00000264071.7 | protein_coding | 886 | chr19 | TogoVar | |||||||
TUBG1_chr17_42604683_42620238 | 42617227 | TTGTATTA others(10): Show |
T | downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 386 | 0.0026 | -17 | c.*21 others(28): Show |
TUBG1 | ENSG00000131462.9 | transcript | ENST00000251413.8 | protein_coding | 1990 | chr17 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291455 | CCCCGTGT others(10): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02622.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0027 a0001c0004t0002g0009 |
2 | 279 | 0.0072 | -17 | c.121 others(36): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291549 | CCCCGTGT others(10): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 282 | 0.0035 | -17 | c.121 others(34): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291643 | CCCCGTGT others(10): Show |
C | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 282 | 0.0035 | -17 | c.121 others(34): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133292458 | CCCCGTGT others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp2 others(82): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(12): Show | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0017 others(76): Show |
85 | 282 | 0.3014 | -17 | c.121 others(32): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133301700 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 117 | 0.0085 | -17 | c.150 others(34): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 2/17 | chr10 | TogoVar | |||||||
TULP3_chr12_2885891_2946138 | 2899902 | ACAAACAA others(10): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0097 | 1 | 365 | 0.0027 | -17 | c.41+ others(32): Show |
TULP3 | ENSG00000078246.17 | transcript | ENST00000448120.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
TULP3_chr12_2885891_2946138 | 2911664 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0348 | 1 | 6 | 0.1667 | -17 | c.93+ others(32): Show |
TULP3 | ENSG00000078246.17 | transcript | ENST00000448120.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TULP3_chr12_2885891_2946138 | 2937200 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00544.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 a0001c0001t0001g0297 |
2 | 7 | 0.2857 | -17 | c.925 others(32): Show |
TULP3 | ENSG00000078246.17 | transcript | ENST00000448120.7 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TULP4_chr6_158307465_158516828 | 158332185 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG03704.hp1 NA18966.hp1 others(4): Show |
a0001a0003a0007 | a0001c0001a0001c0002a0001c0040others(2): Show | a0001c0001t0007a0001c0002t0063a0001c0040t0060others(2): Show | a0001c0001t0007g0052 a0001c0001t0007g0053 a0001c0001t0007g0054 others(4): Show |
7 | 225 | 0.0311 | -17 | c.252 others(36): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TULP4_chr6_158307465_158516828 | 158332187 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 236 | 0.0042 | -17 | c.252 others(36): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TULP4_chr6_158307465_158516828 | 158427471 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01070.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0006a0001c0004t0009a0001c0004t0011others(7): Show | a0001c0001t0006g0194 a0001c0001t0006g0207 a0001c0004t0009g0153 others(9): Show |
12 | 27 | 0.4444 | -17 | c.382 others(34): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TUSC3_chr8_15535263_15771638 | 15536681 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0370 a0001c0001t0008g0155 |
2 | 27 | 0.0741 | -17 | c.-37 others(28): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 3581 | chr8 | TogoVar | |||||||
TUSC3_chr8_15535263_15771638 | 15719499 | ACACACAC others(10): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp2 HG02257.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(4): Show | a0001c0001t0001g0279 a0001c0001t0001g0284 a0001c0001t0008g0205 others(10): Show |
13 | 370 | 0.0351 | -17 | c.799 others(36): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TUT4_chr1_52418275_52558092 | 52458993 | TAATGGAA others(10): Show |
T | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0226 | 1 | 248 | 0.0040 | -17 | c.332 others(34): Show |
TUT4 | ENSG00000134744.14 | transcript | ENST00000257177.9 | protein_coding | 19/29 | chr1 | TogoVar | |||||||
TUT4_chr1_52418275_52558092 | 52498903 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 245 | 0.0041 | -17 | c.100 others(36): Show |
TUT4 | ENSG00000134744.14 | transcript | ENST00000257177.9 | protein_coding | 4/29 | chr1 | TogoVar | |||||||
TUT7_chr9_86282733_86359410 | 86311632 | ACGGTCTC others(10): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0193 | 1 | 203 | 0.0049 | -17 | c.327 others(34): Show |
TUT7 | ENSG00000083223.18 | transcript | ENST00000375963.8 | protein_coding | 17/26 | chr9 | TogoVar | |||||||
TXK_chr4_48061393_48139250 | 48104284 | TATATAAT others(10): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0190 | 1 | 357 | 0.0028 | -17 | c.501 others(32): Show |
TXK | ENSG00000074966.11 | transcript | ENST00000264316.9 | protein_coding | 6/14 | chr4 | TogoVar | |||||||
TXNDC11_chr16_11674083_11747857 | 11709414 | ATTTTTTG others(10): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG03098.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0031 a0001c0004t0001g0032 |
2 | 372 | 0.0054 | -17 | c.794 others(34): Show |
TXNDC11 | ENSG00000153066.13 | transcript | ENST00000283033.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
TXNDC8_chr9_110298476_110342863 | 110299965 | ATATATAT others(10): Show |
A | downstream_gene_variant | MODIFIER | NA18951.hp1 NA18997.hp2 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0080 a0001c0001t0001g0081 |
3 | 380 | 0.0079 | -17 | c.*37 others(28): Show |
TXNDC8 | ENSG00000204193.12 | transcript | ENST00000423740.7 | protein_coding | 3510 | chr9 | TogoVar | |||||||
TXNDC8_chr9_110298476_110342863 | 110299967 | ATATATAT others(10): Show |
A | downstream_gene_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 366 | 0.0027 | -17 | c.*36 others(28): Show |
TXNDC8 | ENSG00000204193.12 | transcript | ENST00000423740.7 | protein_coding | 3508 | chr9 | TogoVar | |||||||
TXNDC8_chr9_110298476_110342863 | 110299973 | ATATATAT others(10): Show |
A | downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 406 | 0.0025 | -17 | c.*36 others(28): Show |
TXNDC8 | ENSG00000204193.12 | transcript | ENST00000423740.7 | protein_coding | 3502 | chr9 | TogoVar | |||||||
TXNDC8_chr9_110298476_110342863 | 110299977 | ATATTTTT others(10): Show |
A | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0383 a0001c0001t0002g0385 |
2 | 391 | 0.0051 | -17 | c.*36 others(28): Show |
TXNDC8 | ENSG00000204193.12 | transcript | ENST00000423740.7 | protein_coding | 3498 | chr9 | TogoVar | |||||||
TXNL1_chr18_56592209_56643592 | 56594472 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02257.hp2 HG02258.hp2 others(16): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0006a0001c0002t0011a0001c0002t0023others(1): Show | a0001c0002t0006g0013 a0001c0002t0006g0144 a0001c0002t0006g0150 others(14): Show |
19 | 27 | 0.7037 | -17 | c.*85 others(28): Show |
TXNL1 | ENSG00000091164.13 | transcript | ENST00000217515.11 | protein_coding | 2736 | chr18 | TogoVar | |||||||
TXNRD1_chr12_104210779_104355307 | 104233934 | CTTTCTGA others(10): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02717.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 others(2): Show |
5 | 300 | 0.0167 | -17 | c.92- others(34): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TXNRD1_chr12_104210779_104355307 | 104267693 | CTTTCTTT others(10): Show |
C | intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 300 | 0.0033 | -17 | c.304 others(34): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TXN_chr9_110238810_110261507 | 110243117 | TATCCCAA others(10): Show |
T | downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0396 | 1 | 464 | 0.0022 | -17 | c.*10 others(28): Show |
TXN | ENSG00000136810.13 | transcript | ENST00000374517.6 | protein_coding | 692 | chr9 | TogoVar | |||||||
TXN_chr9_110238810_110261507 | 110245638 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02895.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0160 a0001c0001t0001g0253 |
4 | 464 | 0.0086 | -17 | c.190 others(32): Show |
TXN | ENSG00000136810.13 | transcript | ENST00000374517.6 | protein_coding | 3/4 | chr9 | TogoVar | |||||||
TXN_chr9_110238810_110261507 | 110245640 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG01884.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0113 a0001c0001t0001g0117 |
5 | 464 | 0.0108 | -17 | c.190 others(32): Show |
TXN | ENSG00000136810.13 | transcript | ENST00000374517.6 | protein_coding | 3/4 | chr9 | TogoVar | |||||||
TYMS_chr18_652653_678578 | 667261 | GGAGATGG others(10): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0250 a0001c0001t0003g0261 |
2 | 479 | 0.0042 | -17 | c.455 others(34): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 667275 | TGATGGGA others(10): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00558.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0001g0138 others(12): Show |
18 | 367 | 0.0490 | -17 | c.455 others(34): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TYRO3_chr15_41554212_41588589 | 41580504 | AAAATAAA others(10): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0027 | 1 | 322 | 0.0031 | -17 | c.*22 others(28): Show |
TYRO3 | ENSG00000092445.12 | transcript | ENST00000263798.8 | protein_coding | 19/19 | 2229 | chr15 | TogoVar | ||||||
TYW1B_chr7_72569513_72833200 | 72576065 | CTTTTGAT others(10): Show |
C | intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0222 | 1 | 284 | 0.0035 | -17 | c.178 others(34): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 13/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72700155 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0005 | a0005c0023 | a0005c0023t0007 | a0005c0023t0007g0178 | 1 | 44 | 0.0227 | -17 | c.137 others(36): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 10/13 | chr7 | TogoVar | |||||||
TYW3_chr1_74728152_74771677 | 74770041 | ATTATGTA others(10): Show |
A | downstream_gene_variant | MODIFIER | HG02040.hp2 NA18954.hp1 NA18962.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 a0002c0002t0001g0031 a0002c0002t0001g0072 others(1): Show |
7 | 330 | 0.0212 | -17 | c.*59 others(28): Show |
TYW3 | ENSG00000162623.16 | transcript | ENST00000370867.8 | protein_coding | 3365 | chr1 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55670065 | GAACAGTC others(10): Show |
G | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 392 | 0.0026 | -17 | c.129 others(34): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | chr19 | TogoVar | |||||||
UAP1_chr1_162556722_162606240 | 162589140 | ATTTATAT others(10): Show |
A | intron_variant | MODIFIER | HG02027.hp2 NA18966.hp2 NA18967.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 a0001c0001t0004g0047 a0001c0001t0004g0048 others(2): Show |
14 | 404 | 0.0347 | -17 | c.116 others(34): Show |
UAP1 | ENSG00000117143.14 | transcript | ENST00000367925.6 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
UBA1_chrX_47188829_47220128 | 47203572 | TCAAGAAC others(10): Show |
T | frameshift_variant | HIGH | NA19003.hp2 | a0011 | a0011c0017 | a0011c0017t0001 | a0011c0017t0001g0041 | 1 | 279 | 0.0036 | -17 | c.145 others(26): Show |
p.Lys others(5): Show |
UBA1 | ENSG00000130985.17 | transcript | ENST00000335972.11 | protein_coding | 14/26 | 1648/3572 | 1452/3177 | 484/1058 | chrX | TogoVar | |||
UBAC2_chr13_99195854_99391504 | 99292206 | GCTCACTG others(10): Show |
G | intron_variant | MODIFIER | HG02698.hp2 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0084 a0001c0001t0008g0085 |
2 | 378 | 0.0053 | -17 | c.390 others(36): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBALD1_chr16_4603884_4619888 | 4607215 | ACTTTGGG others(10): Show |
A | downstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 338 | 0.0030 | -17 | c.*24 others(28): Show |
UBALD1 | ENSG00000153443.13 | transcript | ENST00000283474.12 | protein_coding | 1668 | chr16 | TogoVar | |||||||
UBAP1_chr9_34174043_34257523 | 34184926 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 94 | 0.0106 | -17 | c.-8+ others(32): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34195927 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0055 a0001c0001t0005g0269 |
2 | 38 | 0.0526 | -17 | c.-8+ others(34): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34218250 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02559.hp1 HG02559.hp2 others(7): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0005a0006c0008t0005 | a0001c0001t0005g0003 a0001c0001t0005g0014 a0001c0001t0005g0259 others(7): Show |
10 | 14 | 0.7143 | -17 | c.-7- others(32): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP2_chr9_33916693_34053887 | 33939856 | GGGGGAGG others(10): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(77): Show |
a0001a0003a0004others(4): Show | a0001c0002a0001c0003a0001c0023others(6): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(11): Show | a0001c0002t0001g0141 a0001c0002t0001g0258 a0001c0002t0001g0264 others(77): Show |
80 | 354 | 0.2260 | -17 | c.192 others(36): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 16/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33981146 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0299 | 1 | 315 | 0.0032 | -17 | c.520 others(34): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 6/28 | chr9 | TogoVar |