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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TYSND1_chr10_70132981_70151700 | 70133098 | A | AAGAGAGA others(9): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0003 | 1 | 49 | 0.0204 | 16 | c.*68 others(27): Show |
TYSND1 | ENSG00000156521.14 | transcript | ENST00000287078.7 | protein_coding | 4882 | chr10 | TogoVar | |||||||
TYSND1_chr10_70132981_70151700 | 70136527 | T | TTGTGTGT others(9): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 HG04199.hp1 NA18999.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0003a0001c0003t0013a0001c0005t0005 | a0001c0003t0003g0073 a0001c0003t0013g0071 a0001c0005t0005g0011 |
3 | 26 | 0.1154 | 16 | c.*33 others(27): Show |
TYSND1 | ENSG00000156521.14 | transcript | ENST00000287078.7 | protein_coding | 1453 | chr10 | TogoVar | |||||||
TYSND1_chr10_70132981_70151700 | 70149547 | A | ATTTTTTT others(9): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 | a0007 | a0007c0009 | a0007c0009t0017 | a0007c0009t0017g0101 | 1 | 25 | 0.0400 | 16 | c.-29 others(27): Show |
TYSND1 | ENSG00000156521.14 | transcript | ENST00000287078.7 | protein_coding | 2848 | chr10 | TogoVar | |||||||
TYSND1_chr10_70132981_70151700 | 70151259 | C | CAAAAAAA others(9): Show |
upstream_gene_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0032 | 1 | 17 | 0.0588 | 16 | c.-46 others(27): Show |
TYSND1 | ENSG00000156521.14 | transcript | ENST00000287078.7 | protein_coding | 4560 | chr10 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72570242 | C | CAAAAAAA others(9): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG02027.hp1 others(18): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0006a0002c0003others(2): Show | a0001c0002t0001a0001c0006t0001a0002c0003t0001others(2): Show | a0001c0002t0001g0205 a0001c0002t0001g0236 a0001c0002t0001g0247 others(18): Show |
21 | 110 | 0.1909 | 16 | c.*52 others(27): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 4270 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72602833 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0105 | 1 | 24 | 0.0417 | 16 | c.178 others(37): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 13/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72672473 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00673.hp2 HG01934.hp2 others(9): Show |
a0002a0003a0005others(1): Show | a0002c0003a0003c0004a0005c0008others(1): Show | a0002c0003t0001a0003c0004t0001a0005c0008t0001others(1): Show | a0002c0003t0001g0026 a0002c0003t0001g0034 a0002c0003t0001g0064 others(9): Show |
12 | 15 | 0.8000 | 16 | c.150 others(37): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 11/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72734268 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00738.hp2 HG01884.hp1 others(17): Show |
a0001a0004a0007 | a0001c0001a0001c0007a0004c0005others(2): Show | a0001c0001t0001a0001c0007t0001a0004c0005t0001others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0031 others(17): Show |
20 | 185 | 0.1081 | 16 | c.108 others(35): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72806301 | T | TCTCAGAT others(9): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0188 | 1 | 284 | 0.0035 | 16 | c.723 others(31): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72830536 | G | GGCGGGGG others(9): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(30): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(4): Show | a0001c0001t0001g0277 a0001c0002t0001g0224 a0001c0002t0001g0262 others(30): Show |
33 | 250 | 0.1320 | 16 | c.-24 others(27): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 2337 | chr7 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72830538 | C | CGGGGGGG others(9): Show |
upstream_gene_variant | MODIFIER | HG03540.hp2 NA18995.hp2 |
a0001a0006 | a0001c0002a0006c0009 | a0001c0002t0001a0006c0009t0001 | a0001c0002t0001g0266 a0006c0009t0001g0202 |
2 | 213 | 0.0094 | 16 | c.-24 others(27): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 2339 | chr7 | TogoVar | |||||||
TYW1_chr7_66991833_67244514 | 67062577 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01943.hp2 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0302 a0002c0004t0002g0308 |
2 | 353 | 0.0057 | 16 | c.115 others(35): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67112100 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01074.hp1 others(7): Show |
a0002a0003 | a0002c0004a0003c0005 | a0002c0004t0002a0003c0005t0002 | a0002c0004t0002g0283 a0002c0004t0002g0306 a0002c0004t0002g0309 others(7): Show |
10 | 97 | 0.1031 | 16 | c.156 others(35): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67149722 | A | ATATCTAT others(9): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01074.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0003a0002c0004t0002 | a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0047 others(3): Show |
6 | 74 | 0.0811 | 16 | c.169 others(37): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67159799 | A | ATTTTATT others(9): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG01975.hp1 others(9): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0003a0001c0002t0003a0003c0005t0002 | a0001c0001t0003g0149 a0001c0002t0003g0286 a0001c0002t0003g0311 others(9): Show |
12 | 313 | 0.0383 | 16 | c.169 others(37): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67172430 | C | CCTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG01074.hp1 others(12): Show |
a0002a0004a0005 | a0002c0003a0002c0004a0004c0006others(1): Show | a0002c0003t0002a0002c0003t0013a0002c0004t0002others(2): Show | a0002c0003t0002g0005 a0002c0003t0002g0242 a0002c0003t0002g0243 others(12): Show |
15 | 328 | 0.0457 | 16 | c.169 others(37): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 13/15 | chr7 | TogoVar | |||||||
TYW1_chr7_66991833_67244514 | 67180424 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01358.hp1 HG02155.hp1 others(5): Show |
a0001a0006 | a0001c0001a0006c0019 | a0001c0001t0001a0001c0001t0011a0006c0019t0006 | a0001c0001t0001g0256 a0001c0001t0001g0266 a0001c0001t0001g0270 others(5): Show |
8 | 286 | 0.0280 | 16 | c.169 others(35): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 13/15 | chr7 | TogoVar | |||||||
TYW1_chr7_66991833_67244514 | 67180632 | C | CATTTATT others(9): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp2 others(21): Show |
a0002a0004a0005others(1): Show | a0002c0003a0002c0004a0004c0006others(3): Show | a0002c0003t0002a0002c0003t0004a0002c0004t0004others(4): Show | a0002c0003t0002g0215 a0002c0003t0004g0205 a0002c0003t0004g0206 others(21): Show |
24 | 295 | 0.0814 | 16 | c.169 others(35): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67211150 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01243.hp1 HG02257.hp2 others(6): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0002a0002c0004t0002 | a0002c0003t0002g0215 a0002c0003t0002g0226 a0002c0003t0002g0229 others(6): Show |
9 | 92 | 0.0978 | 16 | c.197 others(37): 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(9): Show |
downstream_gene_variant | MODIFIER | NA19087.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0291 | 1 | 126 | 0.0079 | 16 | c.*50 others(27): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 4090 | chr7 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55670043 | G | GTGGAGTG others(9): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 392 | 0.0026 | 16 | c.129 others(33): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCCGTGCA others(9): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0319 | 1 | 277 | 0.0036 | 16 | c.129 others(33): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2SURP_chr3_142996570_143065725 | 143004573 | A | ACCCCCCC others(9): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG01256.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0116 a0001c0001t0001g0133 a0001c0001t0001g0152 others(10): Show |
13 | 84 | 0.1548 | 16 | c.45+ others(31): 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(9): Show |
intron_variant | MODIFIER | HG03579.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0262 a0001c0001t0014g0359 |
2 | 7 | 0.2857 | 16 | c.254 others(35): Show |
U2SURP | ENSG00000163714.18 | transcript | ENST00000473835.7 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UACA_chr15_70649554_70768558 | 70679402 | C | CTAAATAA others(9): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01109.hp2 HG03017.hp1 others(2): Show |
a0001a0010 | a0001c0001a0001c0003a0010c0018 | a0001c0001t0001a0001c0003t0002a0010c0018t0002 | a0001c0001t0001g0164 a0001c0001t0001g0186 a0001c0003t0002g0033 others(2): Show |
5 | 17 | 0.2941 | 16 | c.891 others(31): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 10/18 | chr15 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70712051 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0026 | 1 | 245 | 0.0041 | 16 | c.79- others(33): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70712064 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0005 | a0005c0009 | a0005c0009t0004 | a0005c0009t0004g0253 | 1 | 300 | 0.0033 | 16 | c.79- others(33): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70718028 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0302 | 1 | 186 | 0.0054 | 16 | c.79- others(33): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70718324 | A | ATGTATGT others(9): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0168 | 1 | 17 | 0.0588 | 16 | c.79- others(33): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70718324 | A | ATGTGTGT others(9): Show |
intron_variant | MODIFIER | HG03195.hp1 NA18980.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0003 | a0001c0001t0001g0149 a0001c0004t0003g0265 |
2 | 18 | 0.1111 | 16 | c.79- others(33): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UBA2_chr19_34423381_34476251 | 34456100 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00733.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0014 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0028 others(22): Show |
25 | 181 | 0.1381 | 16 | c.124 others(35): Show |
UBA2 | ENSG00000126261.13 | transcript | ENST00000246548.9 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UBA2_chr19_34423381_34476251 | 34457179 | A | AAAATATA others(9): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0224 | 1 | 90 | 0.0111 | 16 | c.124 others(35): Show |
UBA2 | ENSG00000126261.13 | transcript | ENST00000246548.9 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UBA6_chr4_67607652_67706155 | 67637935 | T | TATAAATA others(9): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02809.hp1 HG02970.hp2 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0038a0002c0004t0012a0002c0004t0046 | a0001c0002t0038g0021 a0002c0004t0012g0224 a0002c0004t0046g0230 |
3 | 58 | 0.0517 | 16 | c.173 others(34): Show |
UBA6 | ENSG00000033178.13 | transcript | ENST00000322244.10 | protein_coding | 19/32 | chr4 | TogoVar | |||||||
UBAC2_chr13_99195854_99391504 | 99232397 | G | GATATATA others(9): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01346.hp1 HG02015.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0004 | a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0305 others(1): Show |
4 | 314 | 0.0127 | 16 | c.32- others(31): 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(9): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02622.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 others(1): Show |
4 | 204 | 0.0196 | 16 | c.32- others(31): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99232399 | G | GATATATA others(9): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01257.hp2 HG01928.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0081 |
3 | 203 | 0.0148 | 16 | c.32- others(31): 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(9): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 39 | 0.0256 | 16 | c.389 others(35): 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(9): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0104 | 1 | 16 | 0.0625 | 16 | c.562 others(33): 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(9): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02080.hp1 HG02630.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0083 a0001c0001t0001g0260 a0001c0001t0001g0265 others(1): Show |
4 | 247 | 0.0162 | 16 | c.562 others(33): 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(9): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02083.hp2 HG02698.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0351 a0001c0001t0001g0357 a0001c0001t0001g0364 others(2): Show |
5 | 248 | 0.0202 | 16 | c.562 others(33): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99338045 | T | TCTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02622.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 |
3 | 373 | 0.0080 | 16 | c.562 others(33): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 6/8 | chr13 | TogoVar | |||||||
UBAC2_chr13_99195854_99391504 | 99368688 | A | AGTGTGTG others(9): Show |
intron_variant | MODIFIER | NA18972.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0049 |
2 | 57 | 0.0351 | 16 | c.927 others(31): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34182160 | G | GTTTGTTT others(9): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0198 | 1 | 230 | 0.0043 | 16 | c.-8+ others(31): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34182616 | C | CTTCTTTC others(9): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0274 | 1 | 256 | 0.0039 | 16 | c.-8+ others(31): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34182681 | T | TTCTTTCT others(9): Show |
intron_variant | MODIFIER | HG03669.hp1 NA19005.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0111 a0002c0002t0001g0110 |
2 | 129 | 0.0155 | 16 | c.-8+ others(31): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34182681 | T | TTCTTTCT others(9): Show |
intron_variant | MODIFIER | NA18960.hp2 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0244 a0001c0001t0002g0245 |
2 | 129 | 0.0155 | 16 | c.-8+ others(31): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBAP1_chr9_34174043_34257523 | 34202624 | C | CCTCTGTG others(9): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0014 | 1 | 20 | 0.0500 | 16 | c.-7- others(33): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
UBAP1_chr9_34174043_34257523 | 34202624 | C | CCTGTGTG others(9): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01515.hp2 HG01517.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0032 a0001c0001t0001g0088 a0001c0001t0001g0094 others(5): Show |
8 | 27 | 0.2963 | 16 | c.-7- others(33): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
UBAP1_chr9_34174043_34257523 | 34212392 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02055.hp2 HG02135.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0001t0001g0104 others(6): Show |
9 | 36 | 0.2500 | 16 | 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 | 34220072 | T | TCCCCCTC others(9): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 334 | 0.0030 | 16 | c.-7- others(29): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |