| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FAM47A_chrX_34124752_34137314 | 34131061 | AG | A | frameshift_variant | HIGH | NA19067.hp1 | a0017 | a0017c0020 | a0017c0020t0001 | a0017c0020t0001g0000 | 1 | 324 | 0.0031 | -1 | c.121 others(5): Show |
p.Thr others(5): Show |
FAM47A | ENSG00000185448.12 | transcript | ENST00000346193.5 | protein_coding | 1/1 | 1253/2563 | 1217/2376 | 406/791 | chrX | TogoVar | ||
| FAM47A_chrX_34124752_34137314 | 34131622 | C | CG | frameshift_variant | HIGH | NA19067.hp1 | a0017 | a0017c0020 | a0017c0020t0001 | a0017c0020t0001g0000 | 1 | 324 | 0.0031 | 1 | c.656 others(4): Show |
p.Val others(5): Show |
FAM47A | ENSG00000185448.12 | transcript | ENST00000346193.5 | protein_coding | 1/1 | 692/2563 | 656/2376 | 219/791 | chrX | TogoVar | ||
| FAM47A_chrX_34124752_34137314 | 34131797 | TC | T | frameshift_variant | HIGH | NA19067.hp1 | a0017 | a0017c0020 | a0017c0020t0001 | a0017c0020t0001g0000 | 1 | 324 | 0.0031 | -1 | c.481 others(4): Show |
p.Asp others(5): Show |
FAM47A | ENSG00000185448.12 | transcript | ENST00000346193.5 | protein_coding | 1/1 | 517/2563 | 481/2376 | 161/791 | chrX | TogoVar | ||
| FAM47A_chrX_34124752_34137314 | 34131974 | G | GC | frameshift_variant | HIGH | NA19067.hp1 | a0017 | a0017c0020 | a0017c0020t0001 | a0017c0020t0001g0000 | 1 | 324 | 0.0031 | 1 | c.304 others(4): Show |
p.Ala others(5): Show |
FAM47A | ENSG00000185448.12 | transcript | ENST00000346193.5 | protein_coding | 1/1 | 340/2563 | 304/2376 | 102/791 | chrX | TogoVar | ||
| FAM47B_chrX_34937796_34949915 | 34943476 | T | TC | frameshift_variant | HIGH | NA19054.hp2 | a0017 | a0017c0020 | a0017c0020t0001 | a0017c0020t0001g0000 | 1 | 331 | 0.0030 | 1 | c.648 others(4): Show |
p.Lys others(5): Show |
FAM47B | ENSG00000189132.6 | transcript | ENST00000329357.6 | protein_coding | 1/1 | 685/2120 | 649/1938 | 217/645 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| FAM47B_chrX_34937796_34949915 | 34943584 | TC | T | frameshift_variant | HIGH | NA18988.hp1 | a0016 | a0016c0019 | a0016c0019t0002 | a0016c0019t0002g0000 | 1 | 331 | 0.0030 | -1 | c.756 others(4): Show |
p.Glu others(5): Show |
FAM47B | ENSG00000189132.6 | transcript | ENST00000329357.6 | protein_coding | 1/1 | 792/2120 | 756/1938 | 252/645 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| FAM47B_chrX_34937796_34949915 | 34943989 | TC | T | frameshift_variant | HIGH | NA18988.hp1 | a0016 | a0016c0019 | a0016c0019t0002 | a0016c0019t0002g0000 | 1 | 331 | 0.0030 | -1 | c.116 others(5): Show |
p.Pro others(5): Show |
FAM47B | ENSG00000189132.6 | transcript | ENST00000329357.6 | protein_coding | 1/1 | 1196/2120 | 1160/1938 | 387/645 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| FAM47B_chrX_34937796_34949915 | 34944092 | T | TC | frameshift_variant | HIGH | NA18974.hp1 | a0013 | a0013c0018 | a0013c0018t0001 | a0013c0018t0001g0000 | 1 | 331 | 0.0030 | 1 | c.126 others(5): Show |
p.Ser others(5): Show |
FAM47B | ENSG00000189132.6 | transcript | ENST00000329357.6 | protein_coding | 1/1 | 1300/2120 | 1264/1938 | 422/645 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| FAM47C_chrX_37003366_37016664 | 37010215 | GA | G | frameshift_variant | HIGH | HG02922.hp2 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0000 | 1 | 308 | 0.0033 | -1 | c.180 others(5): Show |
p.Val others(5): Show |
FAM47C | ENSG00000198173.5 | transcript | ENST00000358047.5 | protein_coding | 1/1 | 1851/3299 | 1806/3108 | 602/1035 | chrX | TogoVar | ||
| FAM47C_chrX_37003366_37016664 | 37011235 | A | AC | frameshift_variant | HIGH | NA19083.hp1 | a0016 | a0016c0017 | a0016c0017t0001 | a0016c0017t0001g0000 | 1 | 308 | 0.0033 | 1 | c.282 others(5): Show |
p.Leu others(5): Show |
FAM47C | ENSG00000198173.5 | transcript | ENST00000358047.5 | protein_coding | 1/1 | 2873/3299 | 2828/3108 | 943/1035 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| FAM50A_chrX_154439141_154455654 | 154445899 | AG | A | frameshift_variant | HIGH | NA19006.hp1 | a0004 | a0004c0002 | a0004c0002t0006 | a0004c0002t0006g0046 | 1 | 275 | 0.0036 | -1 | c.286 others(4): Show |
p.Glu others(4): Show |
FAM50A | ENSG00000071859.15 | transcript | ENST00000393600.8 | protein_coding | 3/13 | 381/1337 | 286/1020 | 96/339 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| FAM50A_chrX_154439141_154455654 | 154446506 | G | GA | frameshift_variant | HIGH | NA19083.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0027 | 1 | 275 | 0.0036 | 1 | c.388 others(8): Show |
p.Gly others(5): Show |
FAM50A | ENSG00000071859.15 | transcript | ENST00000393600.8 | protein_coding | 4/13 | 484/1337 | 389/1020 | 130/339 | chrX | TogoVar | ||
| FAM50A_chrX_154439141_154455654 | 154448551 | A | AG | frameshift_variant | HIGH | NA18965.hp1 | a0003 | a0003c0004 | a0003c0004t0009 | a0003c0004t0009g0049 | 1 | 275 | 0.0036 | 1 | c.511 others(4): Show |
p.Asp others(5): Show |
FAM50A | ENSG00000071859.15 | transcript | ENST00000393600.8 | protein_coding | 5/13 | 607/1337 | 512/1020 | 171/339 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| FAM50A_chrX_154439141_154455654 | 154450054 | T | TG | frameshift_variant | HIGH | NA18965.hp1 | a0003 | a0003c0004 | a0003c0004t0009 | a0003c0004t0009g0049 | 1 | 275 | 0.0036 | 1 | c.856 others(4): Show |
p.Asp others(5): Show |
FAM50A | ENSG00000071859.15 | transcript | ENST00000393600.8 | protein_coding | 11/13 | 952/1337 | 857/1020 | 286/339 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| FAM50B_chr6_3844373_3856317 | 3849973 | CGCCGTGG others(58): Show |
C | frameshift_variant | HIGH | HG02300.hp1 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0001 | 1 | 480 | 0.0021 | -65 | c.165 others(72): Show |
p.Val others(4): Show |
FAM50B | ENSG00000145945.7 | transcript | ENST00000648326.1 | protein_coding | 2/2 | 302/1643 | 165/978 | 55/325 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| FAM83D_chr20_38921417_38958106 | 38952371 | G | GGTATCAG others(3): Show |
frameshift_variant | HIGH | NA18959.hp1 | a0014 | a0014c0016 | a0014c0016t0002 | a0014c0016t0002g0074 | 1 | 342 | 0.0029 | 10 | c.161 others(19): Show |
p.Arg others(5): Show |
FAM83D | ENSG00000101447.15 | transcript | ENST00000619850.2 | protein_coding | 4/4 | 1646/2370 | 1620/1758 | 540/585 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
| FAM83E_chr19_48594961_48620076 | 48603881 | T | TCGGTGCA others(6): Show |
frameshift_variant | HIGH | NA19058.hp1 | a0010 | a0010c0025 | a0010c0025t0054 | a0010c0025t0054g0192 | 1 | 414 | 0.0024 | 13 | c.776 others(20): Show |
p.Gly others(5): Show |
FAM83E | ENSG00000105523.4 | transcript | ENST00000263266.4 | protein_coding | 6/7 | 2315/4112 | 788/1437 | 263/478 | chr19 | TogoVar | ||
| FAM90A18_chr8_7718091_7731101 | 7726079 | A | ACAGCGAT others(6): Show |
frameshift_variant others(1): Show |
HIGH | HG03486.hp2 | a0019 | a0019c0019 | a0019c0019t0000 | a0019c0019t0000g0008 | 1 | 44 | 0.0227 | 13 | c.137 others(22): Show |
p.Leu others(5): Show |
FAM90A18 | ENSG00000285913.1 | transcript | ENST00000647769.1 | protein_coding | 4/4 | 1388/1395 | 1388/1395 | 463/464 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |
| FAM90A1_chr12_8216260_8232618 | 8224731 | C | CGGGGGAG others(29440): Show |
frameshift_variant others(1): Show |
HIGH | NA18983.hp2 | a0031 | a0031c0016 | a0031c0016t0011 | a0031c0016t0011g0260 | 1 | 466 | 0.0022 | 29447 | c.101 others(29454): Show |
p.Leu others(4): Show |
FAM90A1 | ENSG00000171847.11 | transcript | ENST00000538603.6 | protein_coding | 4/7 | 660/2516 | 101/1395 | 34/464 | chr12 | TogoVar | ||
| FAM90A22_chr8_7566995_7580006 | 7572944 | G | GGCCCGCT others(11614): Show |
frameshift_variant others(1): Show |
HIGH | HG00438.hp1 | a0009 | a0009c0028 | a0009c0028t0000 | a0009c0028t0000g0027 | 1 | 88 | 0.0114 | 11621 | c.445 others(11628): Show |
p.Pro others(5): Show |
FAM90A22 | ENSG00000285687.1 | transcript | ENST00000648590.1 | protein_coding | 4/4 | 445/1395 | 445/1395 | 149/464 | chr8 | TogoVar | ||
| FAM90A23_chr8_7574644_7587653 | 7579760 | T | TCTGAGCG others(5437): Show |
frameshift_variant others(1): Show |
HIGH | NA18949.hp1 | a0023 | a0023c0028 | a0023c0028t0000 | a0023c0028t0000g0032 | 1 | 142 | 0.0070 | 5444 | c.127 others(5453): Show |
p.Ser others(5): Show |
FAM90A23 | ENSG00000285765.1 | transcript | ENST00000648435.1 | protein_coding | 4/4 | 1278/1395 | 1278/1395 | 426/464 | chr8 | TogoVar | ||
| FAM9A_chrX_8785795_8806383 | 8795223 | TC | T | frameshift_variant | HIGH | NA18985.hp1 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0044 | 1 | 303 | 0.0033 | -1 | c.685 others(4): Show |
p.Glu others(5): Show |
FAM9A | ENSG00000183304.10 | transcript | ENST00000381003.7 | protein_coding | 7/10 | 796/1519 | 685/999 | 229/332 | chrX | TogoVar | ||
| FAM9A_chrX_8785795_8806383 | 8795235 | TC | T | frameshift_variant | HIGH | NA18985.hp1 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0044 | 1 | 303 | 0.0033 | -1 | c.673 others(4): Show |
p.Glu others(5): Show |
FAM9A | ENSG00000183304.10 | transcript | ENST00000381003.7 | protein_coding | 7/10 | 784/1519 | 673/999 | 225/332 | chrX | TogoVar | ||
| FAM9A_chrX_8785795_8806383 | 8798395 | TC | T | frameshift_variant | HIGH | HG01168.hp2 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0036 | 1 | 303 | 0.0033 | -1 | c.304 others(4): Show |
p.Glu others(5): Show |
FAM9A | ENSG00000183304.10 | transcript | ENST00000381003.7 | protein_coding | 4/10 | 415/1519 | 304/999 | 102/332 | chrX | TogoVar | ||
| FAM9B_chrX_9019232_9039127 | 9025543 | G | GA | frameshift_variant | HIGH | NA19075.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0056 | 1 | 258 | 0.0039 | 1 | c.532 others(4): Show |
p.Ser others(5): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 8/9 | 897/2103 | 532/561 | 178/186 | chrX | TogoVar | ||
| FAM9B_chrX_9019232_9039127 | 9032971 | T | TC | frameshift_variant | HIGH | NA19075.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0056 | 1 | 258 | 0.0039 | 1 | c.15d others(3): Show |
p.Lys others(3): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 2/9 | 380/2103 | 15/561 | 5/186 | chrX | TogoVar | ||
| FANCA_chr16_89732549_89821647 | 89784963 | GCCTGTGT others(58): Show |
G | frameshift_variant others(3): Show |
HIGH | NA18950.hp1 | a0033 | a0033c0025 | a0033c0025t0003 | a0033c0025t0003g0180 | 1 | 334 | 0.0030 | -65 | c.136 others(77): Show |
p.Ala others(5): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 15/43 | 1392/5452 | 1360/4368 | 454/1455 | chr16 | TogoVar | ||
| FANCB_chrX_14838405_14878069 | 14865145 | CA | C | frameshift_variant | HIGH | NA18955.hp1 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0045 | 1 | 274 | 0.0037 | -1 | c.365 others(4): Show |
p.Leu others(5): Show |
FANCB | ENSG00000181544.16 | transcript | ENST00000650831.1 | protein_coding | 3/10 | 640/3017 | 365/2580 | 122/859 | chrX | TogoVar | ||
| FASLG_chr1_172654103_172671876 | 172665679 | TGCTTTCT others(28): Show |
T | frameshift_variant | HIGH | NA18957.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0006 | 1 | 426 | 0.0024 | -35 | c.510 others(42): Show |
p.Leu others(5): Show |
FASLG | ENSG00000117560.8 | transcript | ENST00000367721.3 | protein_coding | 4/4 | 609/1805 | 510/846 | 170/281 | chr1 | TogoVar | ||
| FBN3_chr19_8060402_8154592 | 8144961 | G | GAGTGTTT others(40): Show |
frameshift_variant | HIGH | NA18522.hp1 | a0057 | a0057c0059 | a0057c0059t0001 | a0057c0059t0001g0032 | 1 | 380 | 0.0026 | 47 | c.456 others(54): Show |
p.Arg others(5): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 6/64 | 617/9108 | 456/8430 | 152/2809 | chr19 | TogoVar | ||
| FBRSL1_chr12_132485151_132590188 | 132490633 | GGAGGCCG others(21): Show |
G | frameshift_variant | HIGH | NA18994.hp2 | a0034 | a0034c0088 | a0034c0088t0028 | a0034c0088t0028g0341 | 1 | 348 | 0.0029 | -28 | c.65_ others(33): Show |
p.Glu others(4): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 1/19 | 485/4839 | 65/3009 | 22/1002 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
| FBRSL1_chr12_132485151_132590188 | 132570140 | A | AC | frameshift_variant | HIGH | HG00423.hp2 HG01175.hp1 HG01978.hp1 others(8): Show |
a0005a0016a0021 | a0005c0031a0005c0032a0005c0051others(5): Show | a0005c0031t0001a0005c0031t0029a0005c0032t0002others(7): Show | a0005c0031t0001g0258a0005c0031t0029g0061a0005c0032t0002g0017others(8): Show | 11 | 348 | 0.0316 | 1 | c.911 others(4): Show |
p.Gln others(5): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 7/19 | 1332/4839 | 912/3009 | 304/1002 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
| FBRSL1_chr12_132485151_132590188 | 132583017 | A | AC | frameshift_variant | HIGH | HG00438.hp2 HG01261.hp2 HG01361.hp2 others(7): Show |
a0000a0005a0013others(3): Show | a0000c0042a0000c0057a0000c0058others(6): Show | a0000c0042t0001a0000c0057t0011a0000c0058t0009others(7): Show | a0000c0042t0001g0219a0000c0057t0011g0066a0000c0058t0009g0110others(7): Show | 10 | 348 | 0.0287 | 1 | c.225 others(5): Show |
p.Ala others(5): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 19/19 | 2674/4839 | 2254/3009 | 752/1002 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
| FBRSL1_chr12_132485151_132590188 | 132583374 | G | GC | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp2 HG01109.hp2 others(30): Show |
a0000a0005a0010others(6): Show | a0000c0014a0000c0019a0000c0022others(17): Show | a0000c0014t0001a0000c0014t0003a0000c0014t0033others(24): Show | a0000c0014t0001g0148a0000c0014t0001g0208a0000c0014t0003g0191others(30): Show | 33 | 348 | 0.0948 | 1 | c.261 others(5): Show |
p.Ala others(5): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 19/19 | 3031/4839 | 2611/3009 | 871/1002 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
| FBRSL1_chr12_132485151_132590188 | 132583509 | G | GC | frameshift_variant | HIGH | HG00408.hp2 HG00597.hp2 HG00642.hp1 others(41): Show |
a0000a0005a0010others(5): Show | a0000c0009a0000c0015a0000c0020others(20): Show | a0000c0009t0001a0000c0009t0003a0000c0009t0008others(31): Show | a0000c0009t0001g0161a0000c0009t0001g0224a0000c0009t0001g0227others(41): Show | 44 | 348 | 0.1264 | 1 | c.274 others(5): Show |
p.Ala others(5): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 19/19 | 3166/4839 | 2746/3009 | 916/1002 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
| FBXL18_chr7_5470797_5518809 | 5500960 | C | CG | frameshift_variant | HIGH | HG00544.hp2 HG00735.hp1 HG00738.hp1 others(36): Show |
a0002a0004a0005others(1): Show | a0002c0004a0002c0006a0002c0017others(3): Show | a0002c0004t0001a0002c0004t0002a0002c0004t0005others(26): Show | a0002c0004t0001g0007a0002c0004t0001g0144a0002c0004t0001g0148others(36): Show | 39 | 338 | 0.1154 | 1 | c.130 others(5): Show |
p.Ala others(5): Show |
FBXL18 | ENSG00000155034.21 | transcript | ENST00000382368.8 | protein_coding | 3/5 | 1443/8270 | 1308/2157 | 436/718 | chr7 | TogoVar | ||
| FBXO24_chr7_100581328_100606117 | 100600861 | G | GATCTCTC others(15): Show |
frameshift_variant | HIGH | NA18964.hp2 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0123 | 1 | 340 | 0.0029 | 22 | c.170 others(31): Show |
p.Gly others(5): Show |
FBXO24 | ENSG00000106336.13 | transcript | ENST00000241071.11 | protein_coding | 10/10 | 2004/2259 | 1706/1743 | 569/580 | chr7 | TogoVar | ||
| FBXO24_chr7_100581328_100606117 | 100600878 | GCCCCCAG others(4): Show |
G | frameshift_variant | HIGH | NA18964.hp2 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0123 | 1 | 340 | 0.0029 | -11 | c.172 others(20): Show |
p.Pro others(5): Show |
FBXO24 | ENSG00000106336.13 | transcript | ENST00000241071.11 | protein_coding | 10/10 | 2021/2259 | 1723/1743 | 575/580 | chr7 | TogoVar | ||
| FBXW8_chr12_116905950_117036148 | 116911140 | CGGGCTCG others(12): Show |
C | frameshift_variant | HIGH | HG02055.hp2 | a0007 | a0007c0012 | a0007c0012t0018 | a0007c0012t0018g0005 | 1 | 290 | 0.0035 | -19 | c.110 others(26): Show |
p.Arg others(4): Show |
FBXW8 | ENSG00000174989.13 | transcript | ENST00000652555.1 | protein_coding | 1/11 | 198/4861 | 110/1797 | 37/598 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
| FCHO2_chr5_72951041_73095522 | 73081754 | A | AACAATTG others(36): Show |
frameshift_variant | HIGH | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0193 | 1 | 286 | 0.0035 | 43 | c.198 others(55): Show |
p.Ile others(5): Show |
FCHO2 | ENSG00000157107.14 | transcript | ENST00000430046.7 | protein_coding | 23/26 | 2053/4921 | 1997/2433 | 666/810 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
| FCHSD1_chr5_141634302_141656418 | 141649275 | CCTCAGCC others(16): Show |
C | frameshift_variant | HIGH | HG00323.hp2 | a0017 | a0017c0026 | a0017c0026t0010 | a0017c0026t0010g0105 | 1 | 428 | 0.0023 | -23 | c.386 others(30): Show |
p.Asn others(5): Show |
FCHSD1 | ENSG00000197948.11 | transcript | ENST00000435817.7 | protein_coding | 6/20 | 458/4319 | 386/2073 | 129/690 | chr5 | TogoVar | ||
| FCN1_chr9_134898232_134922912 | 134916452 | A | ACCTTCAC others(48): Show |
frameshift_variant | HIGH | NA18942.hp1 | a0006 | a0006c0009 | a0006c0009t0009 | a0006c0009t0009g0145 | 1 | 434 | 0.0023 | 55 | c.104 others(65): Show |
p.Val others(4): Show |
FCN1 | ENSG00000085265.12 | transcript | ENST00000371806.4 | protein_coding | 2/9 | 153/7588 | 112/981 | 38/326 | chr9 | TogoVar | ||
| FCN3_chr1_27364110_27379824 | 27373179 | AG | A | frameshift_variant | HIGH | HG01074.hp1 HG01192.hp1 HG02109.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0046a0002c0002t0001g0100a0002c0002t0001g0101others(2): Show | 6 | 404 | 0.0149 | -1 | c.349 others(4): Show |
p.Leu others(5): Show |
FCN3 | ENSG00000142748.14 | transcript | ENST00000270879.9 | protein_coding | 5/8 | 355/1032 | 349/900 | 117/299 | chr1 | TogoVar | ||
| FCSK_chr16_70449595_70485274 | 70474622 | ACAGAGCA others(15): Show |
A | frameshift_variant | HIGH | HG00597.hp1 | a0012 | a0012c0019 | a0012c0019t0001 | a0012c0019t0001g0001 | 1 | 356 | 0.0028 | -22 | c.208 others(31): Show |
p.Thr others(5): Show |
FCSK | ENSG00000157353.17 | transcript | ENST00000288078.11 | protein_coding | 17/24 | 2142/3907 | 2084/3255 | 695/1084 | chr16 | TogoVar | ||
| FER1L5_chr2_96637764_96709883 | 96661717 | TCAAGTCA others(4): Show |
T | frameshift_variant | HIGH | HG00099.hp1 | a0010 | a0010c0025 | a0010c0025t0001 | a0010c0025t0001g0154 | 1 | 226 | 0.0044 | -11 | c.945 others(18): Show |
p.Lys others(5): Show |
FER1L5 | ENSG00000249715.13 | transcript | ENST00000624922.6 | protein_coding | 12/53 | 1018/6438 | 945/6174 | 315/2057 | chr2 | TogoVar | ||
| FEZF2_chr3_62364681_62378550 | 62372516 | G | GC | frameshift_variant | HIGH | HG00597.hp1 HG00642.hp1 HG01261.hp1 others(22): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0002c0002t0001g0004a0002c0002t0001g0010a0002c0002t0002g0005others(3): Show | 25 | 420 | 0.0595 | 1 | c.352 others(4): Show |
p.Ala others(5): Show |
FEZF2 | ENSG00000153266.13 | transcript | ENST00000283268.8 | protein_coding | 2/5 | 682/2112 | 352/1380 | 118/459 | chr3 | TogoVar | ||
| FEZF2_chr3_62364681_62378550 | 62372522 | CCGCCGCC others(7): Show |
C | frameshift_variant | HIGH | HG04199.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0021 | 1 | 420 | 0.0024 | -14 | c.333 others(21): Show |
p.Gly others(5): Show |
FEZF2 | ENSG00000153266.13 | transcript | ENST00000283268.8 | protein_coding | 2/5 | 676/2112 | 333/1380 | 111/459 | chr3 | TogoVar | ||
| FFAR3_chr19_35353460_35365489 | 35359023 | CGCCGCCC others(6459): Show |
C | frameshift_variant others(4): Show |
HIGH | HG02602.hp2 | a0000 | a0000c0013 | a0000c0013t0015 | a0000c0013t0015g0001 | 1 | 415 | 0.0024 | -6466 | c.134 others(9): Show |
p.Arg others(4): Show |
FFAR3 | ENSG00000185897.7 | transcript | ENST00000327809.5 | protein_coding | 2/2 | 335/1800 | 134/1041 | 45/346 | chr19 | TogoVar | ||
| FFAR3_chr19_35353460_35365489 | 35359914 | G | GCCTGTGC others(60): Show |
frameshift_variant others(1): Show |
HIGH | HG02280.hp1 HG03471.hp2 |
a0011 | a0011c0011 | a0011c0011t0006 | a0011c0011t0006g0001 | 2 | 415 | 0.0048 | 67 | c.103 others(76): Show |
p.Ser others(5): Show |
FFAR3 | ENSG00000185897.7 | transcript | ENST00000327809.5 | protein_coding | 2/2 | 1238/1800 | 1037/1041 | 346/346 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| FGD1_chrX_54440454_54501234 | 54448851 | TG | T | frameshift_variant | HIGH | NA19075.hp1 | a0004 | a0004c0007 | a0004c0007t0011 | a0004c0007t0011g0013 | 1 | 264 | 0.0038 | -1 | c.239 others(5): Show |
p.Pro others(5): Show |
FGD1 | ENSG00000102302.8 | transcript | ENST00000375135.4 | protein_coding | 16/18 | 3192/4343 | 2390/2886 | 797/961 | chrX | TogoVar |