regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UBE2K_chr4_39693136_39787792 | 39714550 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0124 | 1 | 336 | 0.0030 | 42 | c.63+ others(59): Show |
UBE2K | ENSG00000078140.14 | transcript | ENST00000261427.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
UBE2K_chr4_39693136_39787792 | 39714550 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0125 | 1 | 336 | 0.0030 | 42 | c.63+ others(59): Show |
UBE2K | ENSG00000078140.14 | transcript | ENST00000261427.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
UBE2K_chr4_39693136_39787792 | 39714550 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0160 | 1 | 336 | 0.0030 | 42 | c.63+ others(59): Show |
UBE2K | ENSG00000078140.14 | transcript | ENST00000261427.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
UBE2R2_chr9_33812160_33925399 | 33877823 | G | GTCTGTCT others(35): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0013 | 1 | 366 | 0.0027 | 42 | c.178 others(59): Show |
UBE2R2 | ENSG00000107341.5 | transcript | ENST00000263228.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
UBE2R2_chr9_33812160_33925399 | 33877823 | G | GTCTGTCT others(35): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0012a0001c0001t0007g0045 | 2 | 366 | 0.0055 | 42 | c.178 others(59): Show |
UBE2R2 | ENSG00000107341.5 | transcript | ENST00000263228.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
UBE2W_chr8_73781219_73883862 | 73845056 | C | CCAGCCCC others(35): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(223): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0084a0001c0001t0001g0091a0001c0001t0001g0093others(223): Show | 226 | 266 | 0.8496 | 42 | c.16- others(59): Show |
UBE2W | ENSG00000104343.21 | transcript | ENST00000602593.6 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
UBE2W_chr8_73781219_73883862 | 73845056 | C | CCAGCCCC others(35): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 266 | 0.0038 | 42 | c.16- others(59): Show |
UBE2W | ENSG00000104343.21 | transcript | ENST00000602593.6 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
UBE2W_chr8_73781219_73883862 | 73851284 | T | TTAGGAGA others(35): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0150 | 1 | 266 | 0.0038 | 42 | c.16- others(59): Show |
UBE2W | ENSG00000104343.21 | transcript | ENST00000602593.6 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
UBE4A_chr11_118354600_118404211 | 118355530 | T | TACACATA others(35): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01069.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013a0001c0001t0022others(1): Show | a0001c0001t0003g0118a0001c0001t0003g0119a0001c0001t0003g0122others(14): Show | 17 | 320 | 0.0531 | 42 | c.-41 others(53): Show |
UBE4A | ENSG00000110344.10 | transcript | ENST00000252108.8 | protein_coding | 4069 | chr11 | TogoVar | ||||||
UBL4B_chr1_110107443_110118947 | 110115264 | A | ATGGTCTT others(35): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 396 | 0.0025 | 42 | c.*22 others(53): Show |
UBL4B | ENSG00000186150.5 | transcript | ENST00000334179.5 | protein_coding | 1318 | chr1 | TogoVar | ||||||
UBR3_chr2_169822454_170089131 | 169890539 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0297 | 1 | 324 | 0.0031 | 42 | c.103 others(59): Show |
UBR3 | ENSG00000144357.18 | transcript | ENST00000272793.11 | protein_coding | 5/38 | chr2 | TogoVar | ||||||
UBR3_chr2_169822454_170089131 | 169890553 | A | ACATATAT others(35): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0003 | a0001c0003t0031 | a0001c0003t0031g0319 | 1 | 324 | 0.0031 | 42 | c.103 others(59): Show |
UBR3 | ENSG00000144357.18 | transcript | ENST00000272793.11 | protein_coding | 5/38 | chr2 | TogoVar | ||||||
UBR3_chr2_169822454_170089131 | 169890555 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG01069.hp1 others(14): Show |
a0001a0004 | a0001c0002a0001c0009a0004c0017 | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(2): Show | a0001c0002t0001g0145a0001c0002t0002g0120a0001c0002t0002g0123others(14): Show | 17 | 324 | 0.0525 | 42 | c.103 others(59): Show |
UBR3 | ENSG00000144357.18 | transcript | ENST00000272793.11 | protein_coding | 5/38 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UBR3_chr2_169822454_170089131 | 169890557 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03471.hp1 HG03516.hp2 |
a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0272a0001c0007t0007g0274a0001c0007t0007g0276 | 3 | 324 | 0.0093 | 42 | c.103 others(59): Show |
UBR3 | ENSG00000144357.18 | transcript | ENST00000272793.11 | protein_coding | 5/38 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UBR3_chr2_169822454_170089131 | 169890581 | G | GTGTATAT others(35): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0275 | 1 | 324 | 0.0031 | 42 | c.103 others(59): Show |
UBR3 | ENSG00000144357.18 | transcript | ENST00000272793.11 | protein_coding | 5/38 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UBR5_chr8_102247273_102417700 | 102387719 | A | AAAATGGA others(35): Show |
intron_variant | MODIFIER | HG01099.hp1 HG03491.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239a0001c0001t0001g0247 | 2 | 328 | 0.0061 | 42 | c.62+ others(59): Show |
UBR5 | ENSG00000104517.13 | transcript | ENST00000520539.6 | protein_coding | 1/58 | chr8 | TogoVar | ||||||
UBTFL1_chr11_90080950_90092131 | 90082775 | C | CCTTTCTT others(35): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 | a0004 | a0004c0004 | a0004c0004t0000 | a0004c0004t0000g0000 | 1 | 276 | 0.0036 | 42 | c.-31 others(53): Show |
UBTFL1 | ENSG00000255009.4 | transcript | ENST00000530464.2 | protein_coding | 3174 | chr11 | TogoVar | ||||||
UBXN11_chr1_26277282_26311636 | 26282344 | A | ACCGGGAC others(35): Show |
disruptive_inframe_insertion | MODERATE | HG02040.hp2 | a0023 | a0023c0025 | a0023c0025t0001 | a0023c0025t0001g0053 | 1 | 370 | 0.0027 | 42 | c.147 others(51): Show |
p.Gly others(55): Show |
UBXN11 | ENSG00000158062.21 | transcript | ENST00000374222.6 | protein_coding | 15/15 | 1597/1660 | 1517/1563 | 506/520 | chr1 | TogoVar | ||
UBXN11_chr1_26277282_26311636 | 26282358 | T | TGGGGCCG others(35): Show |
conservative_inframe_insertion | MODERATE | HG01433.hp2 | a0022 | a0022c0027 | a0022c0027t0001 | a0022c0027t0001g0096 | 1 | 370 | 0.0027 | 42 | c.146 others(51): Show |
p.Pro others(55): Show |
UBXN11 | ENSG00000158062.21 | transcript | ENST00000374222.6 | protein_coding | 15/15 | 1583/1660 | 1503/1563 | 501/520 | chr1 | TogoVar | ||
UCHL3_chr13_75544791_75611020 | 75561788 | T | TGTATATA others(35): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 326 | 0.0031 | 42 | c.183 others(57): Show |
UCHL3 | ENSG00000118939.19 | transcript | ENST00000377595.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
UCHL3_chr13_75544791_75611020 | 75561796 | T | TGTATACG others(35): Show |
intron_variant | MODIFIER | HG03491.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 2 | 326 | 0.0061 | 42 | c.183 others(57): Show |
UCHL3 | ENSG00000118939.19 | transcript | ENST00000377595.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
UCKL1_chr20_63934829_63961416 | 63951657 | A | AGCACAGG others(35): Show |
intron_variant | MODIFIER | HG02559.hp1 NA19088.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0040a0001c0002t0001g0257 | 2 | 356 | 0.0056 | 42 | c.113 others(59): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63951766 | C | CGCCCAGG others(35): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01891.hp1 HG02109.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0258a0001c0001t0001g0259a0001c0001t0001g0261others(2): Show | 5 | 356 | 0.0140 | 42 | c.113 others(59): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63960468 | G | GGGGCTGG others(35): Show |
upstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 356 | 0.0028 | 42 | c.-41 others(53): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 4053 | chr20 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63960507 | C | CGCAGGGC others(35): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 356 | 0.0028 | 42 | c.-41 others(53): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 4092 | chr20 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63960613 | A | AGGACCAG others(35): Show |
upstream_gene_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 356 | 0.0028 | 42 | c.-42 others(53): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 4198 | chr20 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63960721 | G | GGGGCTGG others(35): Show |
upstream_gene_variant | MODIFIER | HG03927.hp2 NA18943.hp1 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050a0001c0001t0001g0103a0001c0001t0001g0127 | 3 | 356 | 0.0084 | 42 | c.-43 others(53): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 4306 | chr20 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63960975 | G | GGGGCTGG others(35): Show |
upstream_gene_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0343 | 1 | 356 | 0.0028 | 42 | c.-46 others(53): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 4560 | chr20 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370225 | G | GTGTGTAT others(35): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0184 | 1 | 468 | 0.0021 | 42 | c.-6- others(57): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | chr10 | TogoVar | ||||||
UEVLD_chr11_18524609_18593734 | 18560138 | C | CACACACA others(35): Show |
intron_variant | MODIFIER | HG01496.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226a0001c0001t0001g0320 | 2 | 400 | 0.0050 | 42 | c.613 others(59): Show |
UEVLD | ENSG00000151116.17 | transcript | ENST00000396197.8 | protein_coding | 6/11 | chr11 | TogoVar | ||||||
UGGT1_chr2_128086200_128200677 | 128112454 | T | TTATATAT others(35): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01884.hp2 HG02559.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0051a0001c0003t0002others(5): Show | a0001c0001t0001g0031a0001c0001t0051g0044a0001c0003t0002g0173others(12): Show | 15 | 332 | 0.0452 | 42 | c.522 others(57): Show |
UGGT1 | ENSG00000136731.13 | transcript | ENST00000259253.11 | protein_coding | 5/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UGT1A10_chr2_233631448_233778300 | 233757535 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 302 | 0.0033 | 42 | c.856 others(59): Show |
UGT1A10 | ENSG00000242515.6 | transcript | ENST00000344644.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UGT1A1_chr2_233755270_233778300 | 233757535 | A | AATATATA others(35): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 412 | 0.0024 | 42 | c.-27 others(53): Show |
UGT1A1 | ENSG00000241635.8 | transcript | ENST00000305208.10 | protein_coding | 2734 | chr2 | TogoVar | ||||||
UGT1A3_chr2_233724042_233778300 | 233757535 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0162 | 1 | 350 | 0.0029 | 42 | c.868 others(59): Show |
UGT1A3 | ENSG00000288702.1 | transcript | ENST00000482026.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UGT1A4_chr2_233713736_233778300 | 233757535 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 332 | 0.0030 | 42 | c.868 others(59): Show |
UGT1A4 | ENSG00000244474.6 | transcript | ENST00000373409.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UGT1A5_chr2_233707907_233778300 | 233757535 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 330 | 0.0030 | 42 | c.868 others(59): Show |
UGT1A5 | ENSG00000288705.1 | transcript | ENST00000373414.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UGT1A6_chr2_233687890_233778300 | 233757535 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0039 | 1 | 332 | 0.0030 | 42 | c.862 others(59): Show |
UGT1A6 | ENSG00000167165.19 | transcript | ENST00000305139.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UGT1A7_chr2_233676901_233778300 | 233757535 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0067 | 1 | 320 | 0.0031 | 42 | c.856 others(59): Show |
UGT1A7 | ENSG00000244122.3 | transcript | ENST00000373426.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UGT1A8_chr2_233612633_233778300 | 233757535 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 290 | 0.0035 | 42 | c.856 others(59): Show |
UGT1A8 | ENSG00000242366.4 | transcript | ENST00000373450.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UGT1A9_chr2_233666898_233778300 | 233757535 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 318 | 0.0031 | 42 | c.856 others(59): Show |
UGT1A9 | ENSG00000241119.2 | transcript | ENST00000354728.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UGT3A2_chr5_36030021_36071882 | 36067822 | G | GGAGAGAG others(35): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0004a0001c0001t0004g0005 | 2 | 410 | 0.0049 | 42 | c.-10 others(53): Show |
UGT3A2 | ENSG00000168671.10 | transcript | ENST00000282507.8 | protein_coding | 941 | chr5 | TogoVar | ||||||
UGT3A2_chr5_36030021_36071882 | 36067865 | G | GAGAGAGA others(35): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0119 | 1 | 410 | 0.0024 | 42 | c.-10 others(53): Show |
UGT3A2 | ENSG00000168671.10 | transcript | ENST00000282507.8 | protein_coding | 984 | chr5 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917190 | G | GTTCGGCT others(35): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0225 | 1 | 344 | 0.0029 | 42 | c.218 others(59): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ULK1_chr12_131889622_131928150 | 131917245 | C | CGGCTCGG others(35): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0083 | 1 | 344 | 0.0029 | 42 | c.218 others(59): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ULK4_chr3_41241599_41967103 | 41856524 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 72 | 0.0139 | 42 | c.165 others(63): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 17/36 | chr3 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7777574 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0228 | 1 | 250 | 0.0040 | 42 | c.83- others(59): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
UNC13C_chr15_53973441_54633605 | 53979353 | G | GTGTTTTT others(35): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01192.hp2 HG01884.hp2 others(18): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0019others(12): Show | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0012g0056others(18): Show | 21 | 158 | 0.1329 | 42 | c.-25 others(59): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
UNC13C_chr15_53973441_54633605 | 54186836 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0068 | 1 | 158 | 0.0063 | 42 | c.307 others(63): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
UNC13C_chr15_53973441_54633605 | 54455205 | C | CTCTCTCT others(35): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18989.hp1 |
a0001a0005 | a0001c0001a0005c0027 | a0001c0001t0006a0005c0027t0008 | a0001c0001t0006g0137a0005c0027t0008g0072 | 2 | 158 | 0.0127 | 42 | c.493 others(63): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 19/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
UNC13C_chr15_53973441_54633605 | 54455205 | C | CTCTCTCT others(35): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0114 | 1 | 158 | 0.0063 | 42 | c.493 others(63): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 19/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |