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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TYW1_chr7_66991833_67244514 | 67143054 | C | CAAA | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01069.hp1 others(68): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0003a0002c0004others(6): Show | a0001c0001t0001a0002c0003t0002a0002c0003t0004others(9): Show | a0001c0001t0001g0125 a0001c0001t0001g0233 a0002c0003t0002g0123 others(68): Show |
71 | 358 | 0.1983 | 3 | c.169 others(24): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67148425 | A | ATTT | intron_variant | MODIFIER | HG01175.hp1 HG01358.hp2 HG01884.hp2 others(14): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0002t0003a0002c0003t0002others(6): Show | a0001c0001t0001g0130 a0001c0001t0001g0233 a0001c0002t0003g0353 others(14): Show |
17 | 194 | 0.0876 | 3 | c.169 others(24): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67151042 | A | ATTC | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01069.hp1 others(58): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0003a0002c0004others(2): Show | a0001c0001t0001a0002c0003t0002a0002c0003t0004others(5): Show | a0001c0001t0001g0125 a0001c0001t0001g0233 a0002c0003t0002g0123 others(58): Show |
61 | 361 | 0.1690 | 3 | c.169 others(24): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67158082 | A | ATTT | intron_variant | MODIFIER | HG00609.hp2 HG01257.hp2 HG01515.hp1 others(15): Show |
a0001a0004a0006 | a0001c0001a0004c0006a0006c0019 | a0001c0001t0001a0001c0001t0006a0004c0006t0005others(1): Show | a0001c0001t0001g0080 a0001c0001t0001g0256 a0001c0001t0001g0258 others(15): Show |
18 | 224 | 0.0804 | 3 | c.169 others(24): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67162313 | C | CAAA | intron_variant | MODIFIER | HG04204.hp1 NA18953.hp1 NA19005.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0126 a0001c0001t0001g0148 others(3): Show |
6 | 110 | 0.0545 | 3 | c.169 others(24): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67163668 | A | ATTT | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01069.hp1 others(56): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0003a0002c0004others(2): Show | a0001c0001t0001a0002c0003t0002a0002c0003t0004others(5): Show | a0001c0001t0001g0233 a0002c0003t0002g0123 a0002c0003t0002g0124 others(56): Show |
59 | 340 | 0.1735 | 3 | c.169 others(24): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67167468 | C | CAAA | intron_variant | MODIFIER | HG01993.hp2 HG02622.hp1 HG02922.hp1 others(4): Show |
a0003a0004 | a0003c0005a0004c0006 | a0003c0005t0002a0004c0006t0005 | a0003c0005t0002g0195 a0003c0005t0002g0197 a0003c0005t0002g0200 others(4): Show |
7 | 63 | 0.1111 | 3 | c.169 others(24): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67186265 | T | TCCC | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00609.hp1 others(49): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0002t0001others(4): Show | a0001c0001t0001g0009 a0001c0001t0001g0081 a0001c0001t0001g0083 others(49): Show |
52 | 274 | 0.1898 | 3 | c.180 others(22): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67186265 | T | TCGC | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02257.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(13): Show |
16 | 238 | 0.0672 | 3 | c.180 others(22): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67194630 | G | GATA | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00738.hp2 others(79): Show |
a0002a0004a0005others(3): Show | a0002c0003a0002c0004a0002c0007others(8): Show | a0002c0003t0002a0002c0003t0004a0002c0003t0013others(11): Show | a0002c0003t0002g0005 a0002c0003t0002g0123 a0002c0003t0002g0124 others(79): Show |
82 | 362 | 0.2265 | 3 | c.181 others(20): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67208689 | C | CAAA | intron_variant | MODIFIER | HG02080.hp2 HG02257.hp2 HG02486.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0001a0002c0003t0002a0002c0004t0002 | a0001c0001t0001g0120 a0001c0001t0001g0264 a0001c0001t0001g0268 others(10): Show |
13 | 260 | 0.0500 | 3 | c.197 others(24): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67217113 | T | TTTG | intron_variant | MODIFIER | HG00609.hp2 HG00642.hp2 HG00738.hp2 others(30): Show |
a0001a0002a0006 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(3): Show | a0001c0001t0001g0120 a0001c0001t0001g0256 a0001c0001t0001g0257 others(30): Show |
33 | 357 | 0.0924 | 3 | c.197 others(24): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67220201 | A | ATTT | intron_variant | MODIFIER | HG01074.hp1 HG01255.hp2 HG01361.hp2 others(4): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0002a0002c0003t0004a0002c0004t0002 | a0002c0003t0002g0005 a0002c0003t0004g0207 a0002c0004t0002g0302 others(4): Show |
7 | 112 | 0.0625 | 3 | c.197 others(24): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67222867 | T | TTTC | intron_variant | MODIFIER | HG00323.hp1 HG01106.hp1 HG01168.hp1 others(29): Show |
a0002a0007 | a0002c0003a0002c0004a0007c0012 | a0002c0003t0002a0002c0003t0013a0002c0004t0002others(2): Show | a0002c0003t0002g0124 a0002c0003t0002g0210 a0002c0003t0002g0211 others(29): Show |
32 | 362 | 0.0884 | 3 | c.197 others(24): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67229654 | C | CAAA | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01070.hp2 others(22): Show |
a0002a0011 | a0002c0003a0002c0004a0011c0009 | a0002c0003t0002a0002c0003t0004a0002c0004t0004others(1): Show | a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0004g0172 others(22): Show |
25 | 305 | 0.0820 | 3 | c.197 others(22): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TYW3_chr1_74728152_74771677 | 74738348 | A | AAAT | intron_variant | MODIFIER | HG02083.hp1 NA18943.hp1 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 3 | 330 | 0.0091 | 3 | c.256 others(18): Show |
TYW3 | ENSG00000162623.16 | transcript | ENST00000370867.8 | protein_coding | 2/5 | chr1 | TogoVar | |||||||
TYW3_chr1_74728152_74771677 | 74759374 | C | CTTT | intron_variant | MODIFIER | HG00597.hp2 HG02040.hp1 NA18942.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0009 a0001c0001t0006g0016 a0001c0001t0006g0137 others(7): Show |
20 | 321 | 0.0623 | 3 | c.561 others(20): Show |
TYW3 | ENSG00000162623.16 | transcript | ENST00000370867.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TYW3_chr1_74728152_74771677 | 74766000 | T | TAAC | 3_prime_UTR_variant | MODIFIER | HG00597.hp2 HG02040.hp1 NA18942.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0009 a0001c0001t0006g0016 a0001c0001t0006g0137 others(7): Show |
20 | 330 | 0.0606 | 3 | c.*18 others(14): Show |
TYW3 | ENSG00000162623.16 | transcript | ENST00000370867.8 | protein_coding | 6/6 | 1892 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
U2AF1L4_chr19_35737527_35750418 | 35741657 | C | CAAA | downstream_gene_variant | MODIFIER | HG01175.hp2 HG02109.hp2 HG02258.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(9): Show |
26 | 70 | 0.3714 | 3 | c.*10 others(14): Show |
U2AF1L4 | ENSG00000161265.15 | transcript | ENST00000378975.8 | protein_coding | 869 | chr19 | TogoVar | |||||||
U2AF1L4_chr19_35737527_35750418 | 35749816 | A | AAAG | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG00733.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0015 others(9): Show |
46 | 312 | 0.1474 | 3 | c.-44 others(14): Show |
U2AF1L4 | ENSG00000161265.15 | transcript | ENST00000378975.8 | protein_coding | 4399 | chr19 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55664317 | G | GCCT | intron_variant | MODIFIER | HG02083.hp1 NA18970.hp1 NA18970.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0111 a0001c0001t0001g0112 others(3): Show |
7 | 392 | 0.0179 | 3 | c.742 others(18): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2SURP_chr3_142996570_143065725 | 142997011 | A | AATT | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01071.hp2 others(25): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0134 a0001c0001t0001g0142 others(23): Show |
28 | 366 | 0.0765 | 3 | c.-46 others(14): Show |
U2SURP | ENSG00000163714.18 | transcript | ENST00000473835.7 | protein_coding | 4558 | chr3 | TogoVar | |||||||
U2SURP_chr3_142996570_143065725 | 143003677 | C | CTTT | intron_variant | MODIFIER | HG00639.hp1 HG01070.hp2 HG01243.hp1 others(15): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0002a0001c0001t0011a0001c0001t0020others(2): Show | a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 others(15): Show |
18 | 83 | 0.2169 | 3 | c.45+ others(18): Show |
U2SURP | ENSG00000163714.18 | transcript | ENST00000473835.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
U2SURP_chr3_142996570_143065725 | 143004573 | A | ACCC | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01169.hp2 others(25): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 others(24): Show |
28 | 99 | 0.2828 | 3 | c.45+ others(18): Show |
U2SURP | ENSG00000163714.18 | transcript | ENST00000473835.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
U2SURP_chr3_142996570_143065725 | 143007444 | A | ATTT | intron_variant | MODIFIER | HG01175.hp1 HG01243.hp2 HG01358.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0144 a0001c0001t0001g0223 a0001c0001t0001g0224 others(15): Show |
19 | 112 | 0.1696 | 3 | c.46- others(18): Show |
U2SURP | ENSG00000163714.18 | transcript | ENST00000473835.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
U2SURP_chr3_142996570_143065725 | 143051602 | C | CAAA | intron_variant | MODIFIER | HG01243.hp1 HG01358.hp2 HG01433.hp1 others(14): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0144 a0001c0001t0001g0173 a0001c0001t0001g0204 others(14): Show |
17 | 111 | 0.1532 | 3 | c.265 others(20): Show |
U2SURP | ENSG00000163714.18 | transcript | ENST00000473835.7 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
U2SURP_chr3_142996570_143065725 | 143052950 | G | GTTT | intron_variant | MODIFIER | HG00609.hp2 HG00735.hp2 HG01243.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0136 a0001c0001t0001g0148 a0001c0001t0001g0156 others(20): Show |
23 | 105 | 0.2190 | 3 | c.265 others(20): Show |
U2SURP | ENSG00000163714.18 | transcript | ENST00000473835.7 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UACA_chr15_70649554_70768558 | 70653140 | C | CAAA | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01243.hp1 others(10): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0007others(3): Show | a0001c0001t0001g0139 a0001c0001t0001g0214 a0001c0002t0001g0004 others(10): Show |
13 | 72 | 0.1806 | 3 | c.*39 others(14): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1413 | chr15 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70659395 | G | GTTT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00609.hp1 others(80): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(12): Show | a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0115 others(78): Show |
83 | 145 | 0.5724 | 3 | c.417 others(20): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 18/18 | chr15 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70744248 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00609.hp2 others(43): Show |
a0001a0003a0010others(1): Show | a0001c0001a0001c0003a0003c0006others(2): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0003others(8): Show | a0001c0001t0001g0036 a0001c0001t0001g0213 a0001c0001t0001g0214 others(43): Show |
46 | 282 | 0.1631 | 3 | c.78+ others(20): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70755676 | T | TAAA | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG00621.hp1 others(77): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0003others(17): Show | a0001c0001t0001g0036 a0001c0001t0001g0060 a0001c0001t0001g0117 others(77): Show |
80 | 305 | 0.2623 | 3 | c.78+ others(18): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UAP1L1_chr9_137072517_137089538 | 137075988 | G | GTTT | upstream_gene_variant | MODIFIER | HG01243.hp2 HG03710.hp1 HG04115.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0017a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0017g0001 others(1): Show |
7 | 53 | 0.1321 | 3 | c.-15 others(14): Show |
UAP1L1 | ENSG00000197355.11 | transcript | ENST00000409858.8 | protein_coding | 1528 | chr9 | TogoVar | |||||||
UAP1_chr1_162556722_162606240 | 162558895 | G | GTTT | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01255.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0085 others(8): Show |
12 | 175 | 0.0686 | 3 | c.-29 others(14): Show |
UAP1 | ENSG00000117143.14 | transcript | ENST00000367925.6 | protein_coding | 2826 | chr1 | TogoVar | |||||||
UBA2_chr19_34423381_34476251 | 34424745 | A | ATTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(77): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(69): Show |
80 | 199 | 0.4020 | 3 | c.-36 others(14): Show |
UBA2 | ENSG00000126261.13 | transcript | ENST00000246548.9 | protein_coding | 3635 | chr19 | TogoVar | |||||||
UBA2_chr19_34423381_34476251 | 34431244 | C | CTTT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00621.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0032 others(31): Show |
36 | 100 | 0.3600 | 3 | c.223 others(18): Show |
UBA2 | ENSG00000126261.13 | transcript | ENST00000246548.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UBA2_chr19_34423381_34476251 | 34443441 | C | CTTT | intron_variant | MODIFIER | HG02258.hp1 HG02630.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 others(3): Show |
6 | 192 | 0.0313 | 3 | c.582 others(18): Show |
UBA2 | ENSG00000126261.13 | transcript | ENST00000246548.9 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UBA2_chr19_34423381_34476251 | 34450742 | C | CTTT | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01071.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0110 a0001c0001t0003g0012 a0001c0001t0003g0209 others(6): Show |
10 | 177 | 0.0565 | 3 | c.871 others(18): Show |
UBA2 | ENSG00000126261.13 | transcript | ENST00000246548.9 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UBA2_chr19_34423381_34476251 | 34456100 | C | CTTT | intron_variant | MODIFIER | HG00609.hp2 HG02027.hp1 HG03516.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(1): Show | a0001c0001t0001g0063 a0001c0001t0001g0092 a0001c0001t0001g0099 others(4): Show |
7 | 163 | 0.0429 | 3 | c.124 others(22): Show |
UBA2 | ENSG00000126261.13 | transcript | ENST00000246548.9 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UBA2_chr19_34423381_34476251 | 34457177 | A | ATAT | intron_variant | MODIFIER | HG02129.hp1 NA18945.hp2 NA18961.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0054 a0001c0001t0001g0071 others(2): Show |
5 | 290 | 0.0172 | 3 | c.124 others(22): Show |
UBA2 | ENSG00000126261.13 | transcript | ENST00000246548.9 | protein_coding | 12/16 | chr19 | TogoVar | |||||||
UBA2_chr19_34423381_34476251 | 34457179 | A | AAAT | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01123.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0021 others(13): Show |
16 | 105 | 0.1524 | 3 | c.124 others(22): Show |
UBA2 | ENSG00000126261.13 | transcript | ENST00000246548.9 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UBA2_chr19_34423381_34476251 | 34457179 | A | ATAT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0025 others(27): Show |
30 | 119 | 0.2521 | 3 | c.124 others(22): Show |
UBA2 | ENSG00000126261.13 | transcript | ENST00000246548.9 | protein_coding | 12/16 | chr19 | TogoVar | |||||||
UBA3_chr3_69049730_69085365 | 69054527 | C | CAAA | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01123.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(6): Show |
12 | 235 | 0.0511 | 3 | c.*90 others(12): Show |
UBA3 | ENSG00000144744.18 | transcript | ENST00000361055.9 | protein_coding | 202 | chr3 | TogoVar | |||||||
UBA3_chr3_69049730_69085365 | 69057924 | C | CTTT | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01943.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0023 others(6): Show |
20 | 127 | 0.1575 | 3 | c.911 others(18): Show |
UBA3 | ENSG00000144744.18 | transcript | ENST00000361055.9 | protein_coding | 11/17 | chr3 | TogoVar | |||||||
UBA52_chr19_18566857_18582550 | 18571310 | C | CAAA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG01123.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0011others(9): Show | a0001c0001t0004g0003 a0001c0001t0004g0007 a0001c0001t0004g0016 others(12): Show |
43 | 177 | 0.2429 | 3 | c.-60 others(12): Show |
UBA52 | ENSG00000221983.8 | transcript | ENST00000442744.7 | protein_coding | 546 | chr19 | TogoVar | |||||||
UBA52_chr19_18566857_18582550 | 18576975 | A | ATTT | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00597.hp1 others(80): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0016others(6): Show | a0001c0001t0003g0001 a0001c0001t0003g0013 a0001c0001t0003g0015 others(14): Show |
83 | 258 | 0.3217 | 3 | c.*18 others(14): Show |
UBA52 | ENSG00000221983.8 | transcript | ENST00000442744.7 | protein_coding | 5/5 | 1849 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
UBA6_chr4_67607652_67706155 | 67682091 | A | ATAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0007a0001c0008others(7): Show | a0001c0002t0003a0001c0002t0007a0001c0002t0008others(34): Show | a0001c0002t0003g0004 a0001c0002t0003g0006 a0001c0002t0003g0024 others(136): Show |
154 | 322 | 0.4783 | 3 | c.229 others(16): Show |
UBA6 | ENSG00000033178.13 | transcript | ENST00000322244.10 | protein_coding | 3/32 | chr4 | TogoVar | |||||||
UBA6_chr4_67607652_67706155 | 67686952 | T | TAAA | intron_variant | MODIFIER | HG00609.hp1 HG01071.hp1 HG01496.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0004a0002c0011 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0123 others(13): Show |
19 | 42 | 0.4524 | 3 | c.135 others(20): Show |
UBA6 | ENSG00000033178.13 | transcript | ENST00000322244.10 | protein_coding | 2/32 | chr4 | TogoVar | |||||||
UBA6_chr4_67607652_67706155 | 67687034 | G | GTTT | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01175.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0008a0001c0002t0016others(2): Show | a0001c0002t0003g0028 a0001c0002t0003g0029 a0001c0002t0003g0030 others(6): Show |
10 | 221 | 0.0452 | 3 | c.135 others(20): Show |
UBA6 | ENSG00000033178.13 | transcript | ENST00000322244.10 | protein_coding | 2/32 | chr4 | TogoVar | |||||||
UBA6_chr4_67607652_67706155 | 67694283 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(49): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0003a0001c0002t0008a0001c0002t0016others(7): Show | a0001c0002t0003g0004 a0001c0002t0003g0006 a0001c0002t0003g0024 others(45): Show |
52 | 319 | 0.1630 | 3 | c.134 others(20): Show |
UBA6 | ENSG00000033178.13 | transcript | ENST00000322244.10 | protein_coding | 2/32 | chr4 | TogoVar | |||||||
UBA6_chr4_67607652_67706155 | 67696148 | A | AATC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0007a0001c0008others(7): Show | a0001c0002t0003a0001c0002t0007a0001c0002t0008others(34): Show | a0001c0002t0003g0004 a0001c0002t0003g0006 a0001c0002t0003g0024 others(136): Show |
154 | 322 | 0.4783 | 3 | c.134 others(18): Show |
UBA6 | ENSG00000033178.13 | transcript | ENST00000322244.10 | protein_coding | 2/32 | chr4 | TogoVar |