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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERC2_chr3_55503311_56473467 | 56348923 | GGAAGGAA others(37): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 | 1 | 71 | 0.0141 | -44 | c.658 others(63): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 2/17 | chr3 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 659519 | GGGAGGGG others(37): Show |
G | downstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 376 | 0.0027 | -44 | c.*50 others(55): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4680 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 696553 | TCTCCTTC others(37): Show |
T | intron_variant | MODIFIER | HG02165.hp2 HG02809.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0173 a0001c0001t0001g0186 a0001c0001t0002g0358 others(1): Show |
4 | 376 | 0.0106 | -44 | c.170 others(61): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 700101 | CCGCACAC others(37): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00609.hp1 others(92): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 others(89): Show |
95 | 375 | 0.2533 | -44 | c.170 others(61): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH5_chr8_98059568_98098609 | 98073432 | CTATATAT others(37): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01952.hp2 HG02273.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0004 | a0001c0001t0001g0130 a0001c0001t0001g0228 a0001c0001t0002g0255 others(1): Show |
4 | 335 | 0.0119 | -44 | c.58+ others(59): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98073472 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG01515.hp1 HG02818.hp1 NA19074.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0004c0004t0001 | a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0002g0245 others(2): Show |
5 | 429 | 0.0117 | -44 | c.58+ others(59): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ESF1_chr20_13709325_13789919 | 13748517 | CACATATA others(37): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG01109.hp1 others(5): Show |
a0002a0009 | a0002c0003a0009c0018 | a0002c0003t0003a0009c0018t0003 | a0002c0003t0003g0133 a0002c0003t0003g0134 a0002c0003t0003g0135 others(5): Show |
8 | 325 | 0.0246 | -44 | c.182 others(65): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 9/13 | chr20 | TogoVar | |||||||
ESYT2_chr7_158725997_158834509 | 158814303 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01071.hp2 HG01993.hp2 others(4): Show |
a0001 | a0001c0001a0001c0024 | a0001c0001t0001a0001c0024t0001 | a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 others(4): Show |
7 | 368 | 0.0190 | -44 | c.330 others(63): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1/22 | chr7 | TogoVar | |||||||
ETS2_chr21_38800929_38829955 | 38815998 | GGAAGGAA others(37): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00639.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(24): Show |
32 | 424 | 0.0755 | -44 | c.506 others(60): Show |
ETS2 | ENSG00000157557.13 | transcript | ENST00000360938.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ETS2_chr21_38800929_38829955 | 38816001 | AGGAAGGA others(37): Show |
A | intron_variant | MODIFIER | HG03669.hp2 HG04184.hp2 NA20805.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0002 a0001c0001t0001g0132 a0001c0002t0002g0007 |
3 | 244 | 0.0123 | -44 | c.506 others(60): Show |
ETS2 | ENSG00000157557.13 | transcript | ENST00000360938.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
EVI5L_chr19_7825218_7869976 | 7867857 | TCTCTACT others(37): Show |
T | downstream_gene_variant | MODIFIER | HG00423.hp2 HG02738.hp2 NA18943.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0094 others(4): Show |
11 | 394 | 0.0279 | -44 | c.*41 others(55): Show |
EVI5L | ENSG00000142459.9 | transcript | ENST00000538904.7 | protein_coding | 2882 | chr19 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137342148 | TCAGGAGC others(37): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0065 | 1 | 73 | 0.0137 | -44 | c.199 others(63): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 601650 | CCACACAC others(37): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 | 1 | 266 | 0.0038 | -44 | c.743 others(61): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 601810 | CCACACAC others(37): Show |
C | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0214 | 1 | 270 | 0.0037 | -44 | c.743 others(61): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 602330 | CCACACAC others(37): Show |
C | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0259 | 1 | 268 | 0.0037 | -44 | c.743 others(61): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar | |||||||
EXOC3L4_chr14_103089725_103115559 | 103109645 | TCTCCCTC others(37): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG02647.hp1 |
a0003a0008 | a0003c0011a0008c0012 | a0003c0011t0001a0008c0012t0001 | a0003c0011t0001g0064 a0008c0012t0001g0133 |
2 | 398 | 0.0050 | -44 | c.197 others(61): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133823868 | TATATTAT others(37): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG01261.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0042 a0001c0001t0001g0068 a0001c0001t0002g0050 others(4): Show |
7 | 94 | 0.0745 | -44 | c.173 others(63): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72512323 | GGAAGGAA others(37): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG01169.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0019a0001c0002t0001others(4): Show | a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0019g0035 others(7): Show |
10 | 102 | 0.0980 | -44 | c.116 others(61): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 11/21 | chr2 | TogoVar | |||||||
EXOG_chr3_38491340_38531303 | 38492731 | TACACACA others(37): Show |
T | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01516.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 3 | 137 | 0.0219 | -44 | c.-36 others(55): Show |
EXOG | ENSG00000157036.13 | transcript | ENST00000287675.10 | protein_coding | 3608 | chr3 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117858712 | AGAAGGAA others(37): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02280.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0014a0001c0001t0018a0001c0001t0019others(4): Show | a0001c0001t0014g0007 a0001c0001t0014g0009 a0001c0001t0018g0078 others(6): Show |
9 | 40 | 0.2250 | -44 | c.963 others(63): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117858840 | GGAAGGAA others(37): Show |
G | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0016 | 1 | 185 | 0.0054 | -44 | c.963 others(63): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117858844 | GGAAAGAA others(37): Show |
G | intron_variant | MODIFIER | HG02886.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0027 | a0001c0001t0015g0091 a0001c0001t0027g0003 |
2 | 125 | 0.0160 | -44 | c.963 others(63): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118073614 | GGAAGAGA others(37): Show |
G | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0182 | 1 | 181 | 0.0055 | -44 | c.962 others(63): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EYA1_chr8_71192433_71367069 | 71207808 | AAAAGGAT others(37): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(74): Show |
a0001a0004 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0006others(11): Show | a0001c0002t0001g0015 a0001c0002t0001g0043 a0001c0002t0001g0047 others(74): Show |
77 | 230 | 0.3348 | -44 | c.169 others(63): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 17/17 | chr8 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 64442843 | GGAGTTTG others(37): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02630.hp2 HG02809.hp1 others(5): Show |
a0003a0006a0012others(4): Show | a0003c0008a0003c0021a0006c0017others(5): Show | a0003c0008t0002a0003c0021t0001a0006c0017t0001others(5): Show | a0003c0008t0002g0020 a0003c0021t0001g0008 a0006c0017t0001g0002 others(5): Show |
8 | 24 | 0.3333 | -44 | c.564 others(63): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 26/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 65317825 | CCTTTCTT others(37): Show |
C | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0006 | 1 | 12 | 0.0833 | -44 | c.176 others(65): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 11/42 | chr6 | TogoVar | |||||||
EZR_chr6_158760748_158824368 | 158803538 | TATATATG others(37): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG02040.hp2 HG03704.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0066 others(4): Show |
7 | 292 | 0.0240 | -44 | c.13- others(61): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
EZR_chr6_158760748_158824368 | 158803588 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 | 1 | 304 | 0.0033 | -44 | c.13- others(61): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
F11R_chr1_160990211_161026152 | 161017534 | AAGACCTT others(37): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0174 | 1 | 390 | 0.0026 | -44 | c.64+ others(59): Show |
F11R | ENSG00000158769.19 | transcript | ENST00000368026.11 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
FAF2_chr5_176443385_176515074 | 176451803 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0013 | a0001c0001t0004g0022 a0001c0001t0010g0006 a0001c0001t0013g0026 |
3 | 370 | 0.0081 | -44 | c.63+ others(59): Show |
FAF2 | ENSG00000113194.13 | transcript | ENST00000261942.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FAM114A1_chr4_38862806_38950739 | 38880111 | AATAGAAT others(37): Show |
A | intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0058 | 1 | 370 | 0.0027 | -44 | c.348 others(61): Show |
FAM114A1 | ENSG00000197712.12 | transcript | ENST00000358869.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAM135B_chr8_138125023_138502261 | 138425972 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00738.hp1 others(33): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0004a0001c0005others(9): Show | a0001c0003t0003a0001c0004t0001a0001c0004t0008others(18): Show | a0001c0003t0003g0033 a0001c0004t0001g0020 a0001c0004t0001g0030 others(33): Show |
36 | 210 | 0.1714 | -44 | c.-19 others(63): Show |
FAM135B | ENSG00000147724.12 | transcript | ENST00000395297.6 | protein_coding | 1/19 | chr8 | TogoVar | |||||||
FAM151B_chr5_80483100_80547563 | 80538480 | TTCTTTCC others(37): Show |
T | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 353 | 0.0028 | -44 | c.672 others(61): Show |
FAM151B | ENSG00000152380.10 | transcript | ENST00000282226.5 | protein_coding | 5/5 | chr5 | TogoVar | |||||||
FAM204A_chr10_118292925_118347324 | 118332492 | TCCTCCCT others(37): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(88): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(21): Show | a0001c0001t0003g0027 a0001c0001t0003g0097 a0001c0001t0003g0106 others(48): Show |
91 | 391 | 0.2327 | -44 | c.453 others(61): Show |
FAM204A | ENSG00000165669.14 | transcript | ENST00000369183.9 | protein_coding | 6/8 | chr10 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38613066 | AATATATT others(37): Show |
A | intron_variant | MODIFIER | HG01928.hp1 HG01975.hp1 HG01993.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0098 others(1): Show |
4 | 326 | 0.0123 | -44 | c.103 others(63): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 11/16 | chr22 | TogoVar | |||||||
FAM78B_chr1_166064299_166172001 | 166109822 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG01069.hp1 HG02148.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0218 a0001c0001t0001g0232 a0001c0001t0002g0009 others(3): Show |
6 | 315 | 0.0190 | -44 | c.264 others(63): Show |
FAM78B | ENSG00000188859.7 | transcript | ENST00000354422.4 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
FAM98A_chr2_33578660_33604299 | 33594636 | TACACATA others(37): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 403 | 0.0025 | -44 | c.202 others(59): Show |
FAM98A | ENSG00000119812.20 | transcript | ENST00000238823.13 | protein_coding | 2/7 | chr2 | TogoVar | |||||||
FAM9B_chrX_9019232_9039127 | 9021432 | ATATATAT others(37): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01891.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 a0001c0001t0002g0042 |
8 | 256 | 0.0313 | -44 | c.*39 others(55): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 2799 | chrX | TogoVar | |||||||
FAM9B_chrX_9019232_9039127 | 9022042 | ATTACATT others(37): Show |
A | downstream_gene_variant | MODIFIER | HG03225.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 2 | 256 | 0.0078 | -44 | c.*33 others(55): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 2189 | chrX | TogoVar | |||||||
FASTKD1_chr2_169523508_169578865 | 169561748 | ATAAATTA others(37): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01891.hp2 HG02055.hp1 others(10): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0044 a0002c0003t0001g0045 a0002c0003t0001g0046 others(10): Show |
13 | 125 | 0.1040 | -44 | c.573 others(60): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 4/14 | chr2 | TogoVar | |||||||
FAT1_chr4_186582794_186728856 | 186610642 | ATAATTTA others(37): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00544.hp2 others(67): Show |
a0004a0010a0011others(19): Show | a0004c0003a0004c0065a0004c0086others(27): Show | a0004c0003t0001a0004c0003t0013a0004c0003t0018others(35): Show | a0004c0003t0001g0205 a0004c0003t0001g0211 a0004c0003t0001g0214 others(67): Show |
70 | 333 | 0.2102 | -44 | c.985 others(61): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 14/26 | chr4 | TogoVar | |||||||
FAT1_chr4_186582794_186728856 | 186624156 | AAAGGTCT others(37): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02886.hp1 HG02895.hp1 others(10): Show |
a0038a0046a0077others(8): Show | a0038c0046a0046c0052a0077c0077others(8): Show | a0038c0046t0001a0038c0046t0003a0046c0052t0051others(10): Show | a0038c0046t0001g0134 a0038c0046t0003g0092 a0046c0052t0051g0137 others(10): Show |
13 | 336 | 0.0387 | -44 | c.481 others(63): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 9/26 | chr4 | TogoVar | |||||||
FAT2_chr5_151499092_151596331 | 151540345 | TTTCTCCT others(37): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0044 | a0001c0044t0005 | a0001c0044t0005g0090 | 1 | 395 | 0.0025 | -44 | c.903 others(61): Show |
FAT2 | ENSG00000086570.13 | transcript | ENST00000261800.6 | protein_coding | 11/23 | chr5 | TogoVar | |||||||
FBLN7_chr2_112133385_112193218 | 112138817 | CGTCCCTC others(37): Show |
C | intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 102 | 0.0098 | -44 | c.75+ others(57): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128539813 | TCATATAT others(37): Show |
T | upstream_gene_variant | MODIFIER | HG02280.hp2 | a0003 | a0003c0023 | a0003c0023t0038 | a0003c0023t0038g0234 | 1 | 232 | 0.0043 | -44 | c.-22 others(55): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1569 | chr5 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128539874 | ATATGATA others(37): Show |
A | upstream_gene_variant | MODIFIER | HG01516.hp2 HG02257.hp1 |
a0007 | a0007c0026 | a0007c0026t0002 | a0007c0026t0002g0105 a0007c0026t0002g0107 |
2 | 234 | 0.0085 | -44 | c.-23 others(55): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1630 | chr5 | TogoVar | |||||||
FBXO34_chr14_55266421_55358611 | 55318333 | CATATATA others(37): Show |
C | intron_variant | MODIFIER | HG02630.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0311 a0001c0001t0004g0119 |
2 | 72 | 0.0278 | -44 | c.-10 others(63): Show |
FBXO34 | ENSG00000178974.11 | transcript | ENST00000313833.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FBXW10_chr17_18739054_18784349 | 18774040 | GGTTGCTT others(37): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01074.hp1 others(11): Show |
a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0040 a0009c0009t0001g0294 a0009c0009t0001g0295 others(10): Show |
14 | 384 | 0.0365 | -44 | c.227 others(63): Show |
FBXW10 | ENSG00000171931.13 | transcript | ENST00000395665.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FBXW10_chr17_18739054_18784349 | 18774049 | GCATTCTG others(37): Show |
G | intron_variant | MODIFIER | HG02630.hp2 NA19043.hp1 |
a0008a0023 | a0008c0008a0023c0025 | a0008c0008t0004a0023c0025t0001 | a0008c0008t0004g0194 a0023c0025t0001g0074 |
2 | 384 | 0.0052 | -44 | c.227 others(63): Show |
FBXW10 | ENSG00000171931.13 | transcript | ENST00000395665.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FBXW10_chr17_18739054_18784349 | 18774075 | TACAAGGG others(37): Show |
T | intron_variant | MODIFIER | HG02717.hp2 HG03669.hp2 |
a0003a0004 | a0003c0019a0004c0004 | a0003c0019t0001a0004c0004t0001 | a0003c0019t0001g0008 a0004c0004t0001g0225 |
2 | 379 | 0.0053 | -44 | c.227 others(62): Show |
FBXW10 | ENSG00000171931.13 | transcript | ENST00000395665.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |