MutSpliceDB: a database of Splice Sites Variants
Gene Symbol | Entrez Gene ID | Mutation | Allele registry ID | Splicing effect | Sample | Sample link | Genome version | Source | Source link | Locus |
---|---|---|---|---|---|---|---|---|---|---|
TP53 | 7157 | NM_000546.5:c.375+5G>A | CA645589233 | Intron inclusion between exons 4 & 5 | PK-45H | https://depmap.org/portal/cell_line/ACH-000468 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7579207-7579407 |
RB1 | 5925 | NM_000321.2:c.2211+5G>T | CA658760346 | Exon 21 skipping | NCI-H1436 | https://depmap.org/portal/cell_line/ACH-000830 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr13:49037876-49038076 |
RB1 | 5925 | NM_000321.2:c.1389+5G>C | CA658655602 | Exon 14 skipping | COR-L24 | https://depmap.org/portal/cell_line/ACH-000382 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr13:48953691-48953891 |
APC | 324 | NM_001127511.2:c.250+2T>C | CA360617468 | Intron inclusion between exons 2 & 3 | SNU-1040 | https://depmap.org/portal/cell_line/ACH-000999 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr5:112102009-112102209 |
ARID1A | 8289 | NM_006015.4:c.4101+1G>T | CA339172557 | Intron inclusion between exons 17 & 18 | MHH-NB-11 | https://depmap.org/portal/cell_line/ACH-000078 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr1:27100290-27100490 |
ARID1B | 57492 | NM_020732.3:c.3025G>T | CA366389648 | Intron inclusion between exons 10 & 11, or exon 10 skipping | NCI-H322 | https://depmap.org/portal/cell_line/ACH-000837 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr6:157488219-157488419 |
ATM | 472 | NM_000051.3:c.2922-2A>T | CA382547055 | Intron inclusion between exons 19 & 20 | GRANTA-519 | https://depmap.org/portal/cell_line/ACH-000073 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr11:108141876-108142076 |
BRCA1 | 672 | NM_007297.3:c.5266-2A>G | CA003572 | Intron inclusion between exons 20 & 21 | Ishikawa (Heraklio) 02 ER- | https://depmap.org/portal/cell_line/ACH-000961 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:41199622-41199822 |
BRCA1 | 672 | NM_007297.3:c.5136+1G>A | CA003419 | Intron inclusion between exons 18 & 19 | MDA-MB-436 | https://depmap.org/portal/cell_line/ACH-000573 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:41208968-41209168 |
CDKN1B | 1027 | NM_004064.4:c.475+1G>A | CA383971039 | Intron inclusion between exons 1 & 2 | TCCSUP | https://depmap.org/portal/cell_line/ACH-000720 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr12:12871149-12871349 |
CDKN2A | 1029 | NM_000077.4:c.457+2T>C | CA373085801 | Intron inclusion between exons 2 & 3, or skipping end of exon 2 | Hs 766T | https://depmap.org/portal/cell_line/ACH-000178 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr9:21970799-21970999 |
CDKN2A | 1029 | NM_000077.4:c.457+2T>C | CA373085801 | Intron inclusion between exons 2 & 3, or skipping end of exon 2 | HSC-2 | https://depmap.org/portal/cell_line/ACH-000472 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr9:21970799-21970999 |
CDKN2A | 1029 | NM_000077.4:c.457+1G>T | CA373085804 | Intron inclusion between exons 2 & 3, or skipping end of exon 2 | NCI-H661 | https://depmap.org/portal/cell_line/ACH-000853 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr9:21970800-21971000 |
CDKN2A | 1029 | NM_000077.4:c.457+1G>A | CA373085806 | Intron inclusion between exons 2 & 3, or skipping end of exon 2 | KNS-62 | https://depmap.org/portal/cell_line/ACH-000858 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr9:21970800-21971000 |
CDKN2A | 1029 | NM_000077.4:c.151-1G>T | CA16618833 | Intron inclusion between exons 1 & 2 | FaDu | https://depmap.org/portal/cell_line/ACH-000846 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr9:21971108-21971308 |
CDKN2A | 1029 | NM_000077.4:c.151-1G>A | CA373086462 | Intron inclusion between exons 1 & 2 | MHH-ES-1 | https://depmap.org/portal/cell_line/ACH-000391 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr9:21971108-21971308 |
CDKN2A | 1029 | NM_000077.4:c.151-2A>C | CA373086465 | Intron inclusion between exons 1 & 2 | SW 1353 | https://depmap.org/portal/cell_line/ACH-000418 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr9:21971109-21971309 |
CDKN2C | 1031 | NM_001262.2:c.129+1G>T | CA340560868 | Intron inclusion between exons 2 & 3 | SNU-201 | https://depmap.org/portal/cell_line/ACH-000623 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr1:51436070-51436270 |
FANCA | 2175 | NM_000135.2:c.709+2T>C | CA397477632 | Intron inclusion between exons 7 & 8 | CML-T1 | https://depmap.org/portal/cell_line/ACH-000920 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr16:89871586-89871786 |
MSH2 | 4436 | NM_000251.2:c.1276+1G>A | CA017744 | Intron inclusion between exons 7 & 8 | EFO-27 | https://depmap.org/portal/cell_line/ACH-000936 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr2:47656981-47657181 |
MSH2 | 4436 | NM_000251.2:c.2211-1G>A | CA346729646 | Intron inclusion between exons 13 & 14 | JHUEM-1 | https://depmap.org/portal/cell_line/ACH-000928 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr2:47705310-47705510 |
NF1 | 4763 | NM_000267.3:c.1641+1G>A | CA399002191 | Intron inclusion between exons 14 & 15 | MKN74 | https://depmap.org/portal/cell_line/ACH-000758 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:29546037-29546237 |
NF1 | 4763 | NM_000267.3:c.4269+2T>C | CA334574 | Intron inclusion between exons 31 & 32 | EN | https://depmap.org/portal/cell_line/ACH-000978 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:29585422-29585622 |
NF2 | 4771 | NM_000268.3:c.363+1G>A | CA411153403 | Intron inclusion between exons 3 & 4 | NCI-H2286 | https://depmap.org/portal/cell_line/ACH-000912 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr22:30035102-30035302 |
PALB2 | 79728 | NM_024675.3:c.2514+2T>C | CA395123908 | Intron inclusion between exons 5 & 6 | Reh | https://depmap.org/portal/cell_line/ACH-000960 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr16:23640859-23641059 |
PMS2 | 5395 | NM_000535.5:c.2174+1G>A | CA010965 | Intron inclusion between exons 12 & 13 | MOLT-3 | https://depmap.org/portal/cell_line/ACH-000964 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr7:6022354-6022554 |
POLD1 | 5424 | NM_002691.3:c.2389-2A>T | CA406984490 | Intron inclusion between exons 19 & 20 | SK-OV-3 | https://depmap.org/portal/cell_line/ACH-000811 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr19:50917970-50918170 |
PTCH1 | 5727 | NM_000264.3:c.2561-1G>A | CA374113600 | Intron inclusion between exons 15 & 16 | NCI-H2029 | https://depmap.org/portal/cell_line/ACH-000298 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr9:98224181-98224381 |
PTEN | 5728 | NM_000314.6:c.635-2A>C | CA377484744 | Intron inclusion between exons 6 & 7 | JHUEM-2 | https://depmap.org/portal/cell_line/ACH-000909 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr10:89717508-89717708 |
PTEN | 5728 | NM_000314.6:c.1026+1G>T | CA377486187 | Intron inclusion between exons 8 & 9, and loss of exon 9 expression | U-118 MG | https://depmap.org/portal/cell_line/ACH-000040 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr10:89720776-89720976 |
PTEN | 5728 | NM_000314.6:c.1027-2A>T | CA377487089 | Intron inclusion between exons 8 & 9 | HSC-4 | https://depmap.org/portal/cell_line/ACH-000546 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr10:89724942-89725142 |
SMARCA4 | 6597 | NM_001128844.1:c.2617-1G>A | CA404055473 | Intron inclusion between exons 19 & 20 | NCI-H838 | https://depmap.org/portal/cell_line/ACH-000416 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr19:11132300-11132500 |
SMARCA4 | 6597 | NM_001128844.1:c.3952-1G>C | CA404067977 | Intron inclusion between exons 29 & 30 | COV434 | https://depmap.org/portal/cell_line/ACH-000123 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr19:11145489-11145689 |
SMARCB1 | 6598 | NM_003073.3:c.362+1G>C | CA410934142 | Intron inclusion between exons 3 & 4 | SW 1573 | https://depmap.org/portal/cell_line/ACH-000677 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr22:24135776-24135976 |
SMARCC1 | 6599 | NM_003074.3:c.2376+2T>C | CA352574504 | Intron inclusion between exons 22 & 23 | KYSE-410 | https://depmap.org/portal/cell_line/ACH-000809 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr3:47680113-47680313 |
SMARCB1 | 6598 | NM_003073.3:c.500+1G>A | CA410934606 | Intron inclusion between exons 4 & 5 | 253J | https://depmap.org/portal/cell_line/ACH-000011 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr22:24143169-24143369 |
TP53 | 7157 | NM_000546.5:c.1101-2A>C | CA397830927 | Intron inclusion between exons 10 & 11 | HCT-15 | https://depmap.org/portal/cell_line/ACH-000997 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7572910-7573110 |
TP53 | 7157 | NM_000546.5:c.994-1G>A | CA000528 | Intron inclusion between exons 9 & 10 | SU-DHL-10 | https://depmap.org/portal/cell_line/ACH-000271 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7573934-7574134 |
TP53 | 7157 | NM_000546.5:c.994-1G>C | CA10580906 | Intron inclusion between exons 9 & 10 | SNU-489 | https://depmap.org/portal/cell_line/ACH-000543 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7573934-7574134 |
TP53 | 7157 | NM_000546.5:c.994-2A>G | CA287485766 | Intron inclusion between exons 9 & 10 | VMRC-RCW | https://depmap.org/portal/cell_line/ACH-000484 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7573935-7574135 |
TP53 | 7157 | NM_000546.5:c.993+2T>G | CA397835626 | Intron inclusion between exons 9 & 10 | AML-193 | https://depmap.org/portal/cell_line/ACH-000557 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7576751-7576951 |
TP53 | 7157 | NM_000546.5:c.993+1G>T | CA287486498 | Intron inclusion between exons 9 & 10 | NCI-H1693 | https://depmap.org/portal/cell_line/ACH-000021 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7576752-7576952 |
TP53 | 7157 | NM_000546.5:c.993+1G>A | CA397835645 | Intron inclusion between exons 9 & 10 | TCC-PAN2 | https://depmap.org/portal/cell_line/ACH-000502 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7576752-7576952 |
TP53 | 7157 | NM_000546.5:c.920-1G>A | CA000499 | Intron inclusion between exons 8 & 9 | COR-L311 | https://depmap.org/portal/cell_line/ACH-000187 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7576827-7577027 |
TP53 | 7157 | NM_000546.5:c.919+1G>T | CA397836242 | Intron inclusion between exons 8 & 9 | SNU-685 | https://depmap.org/portal/cell_line/ACH-000407 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7576918-7577118 |
TP53 | 7157 | NM_000546.5:c.919+1G>C | CA397836244 | Intron inclusion between exons 8 & 9 | MFE-280 | https://depmap.org/portal/cell_line/ACH-000192 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7576918-7577118 |
TP53 | 7157 | NM_000546.5:c.783-1G>T | CA397837291 | Intron inclusion between exons 7 & 8 | NCI-H1694 | https://depmap.org/portal/cell_line/ACH-000431 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7577056-7577256 |
TP53 | 7157 | NM_000546.5:c.783-2A>T | CA397837307 | Intron inclusion between exons 7 & 8 | KMS-27 | https://depmap.org/portal/cell_line/ACH-000576 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7577057-7577257 |
TP53 | 7157 | NM_000546.5:c.783-2A>C | CA397837324 | Intron inclusion between exons 7 & 8 | NCI-H2227 | https://depmap.org/portal/cell_line/ACH-000610 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7577057-7577257 |
TP53 | 7157 | NM_000546.5:c.782+1G>T | CA397837531 | Intron inclusion between exons 7 & 8 | NCI-H647 | https://depmap.org/portal/cell_line/ACH-000378 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7577398-7577598 |
TP53 | 7157 | NM_000546.5:c.782G>C | CA000415 | Intron inclusion between exons 7 & 8 | L-363 | https://depmap.org/portal/cell_line/ACH-000183 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7577399-7577599 |
TP53 | 7157 | NM_000546.5:c.673-1G>A | CA16607882 | Intron inclusion between exons 6 & 7 | FaDu | https://depmap.org/portal/cell_line/ACH-000846 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7577509-7577709 |
TP53 | 7157 | NM_000546.5:c.673-2A>G | CA397839547 | Intron inclusion between exons 6 & 7 | KYSE-30 | https://depmap.org/portal/cell_line/ACH-000777 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7577510-7577710 |
TP53 | 7157 | NM_000546.5:c.673-2A>C | CA397839549 | Intron inclusion between exons 6 & 7 | OCI-M1 | https://depmap.org/portal/cell_line/ACH-000751 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7577510-7577710 |
TP53 | 7157 | NM_000546.5:c.673-2A>T | CA397839553 | Intron inclusion between exons 6 & 7 | NCI-H209 | https://depmap.org/portal/cell_line/ACH-000290 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7577510-7577710 |
TP53 | 7157 | NM_000546.5:c.672+2T>G | CA397839766 | Intron inclusion between exons 6 & 7 | CAL-120 | https://depmap.org/portal/cell_line/ACH-000212 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7578075-7578275 |
TP53 | 7157 | NM_000546.5:c.672+1G>A | CA339249 | Intron inclusion between exons 6 & 7 | SCC-15 | https://depmap.org/portal/cell_line/ACH-000254 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7578076-7578276 |
TP53 | 7157 | NM_000546.5:c.672+1G>T | CA397839769 | Intron inclusion between exons 6 & 7 | KMRC-20 | https://depmap.org/portal/cell_line/ACH-000250 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7578076-7578276 |
TP53 | 7157 | NM_000546.5:c.672G>A | CA000328 | Intron inclusion between exons 6 & 7 | SNU-398 | https://depmap.org/portal/cell_line/ACH-000221 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7578077-7578277 |
TP53 | 7157 | NM_000546.5:c.672G>T | CA397839776 | Intron inclusion between exons 6 & 7 | RERF-LC-KJ | https://depmap.org/portal/cell_line/ACH-000482 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7578077-7578277 |
TP53 | 7157 | NM_000546.5:c.560-1G>A | CA397840949 | Intron inclusion between exons 5 & 6 | NCI-H3255 | https://depmap.org/portal/cell_line/ACH-000109 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7578190-7578390 |
TP53 | 7157 | NM_000546.5:c.559+2T>A | CA397841056 | Intron inclusion between exons 5 & 6 | Set-2 | https://depmap.org/portal/cell_line/ACH-000195 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7578269-7578469 |
TP53 | 7157 | NM_000546.5:c.559+1G>A | CA397841068 | Intron inclusion between exons 5 & 6, or skipping end of exon 5 | U-937 | https://depmap.org/portal/cell_line/ACH-000406 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7578270-7578470 |
TP53 | 7157 | NM_000546.5:c.559G>C | CA397841073 | Intron inclusion between exons 5 & 6, or skipping end of exon 5 | HPAC | https://depmap.org/portal/cell_line/ACH-000270 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7578271-7578471 |
TP53 | 7157 | NM_000546.5:c.376-1G>A | CA287488727 | Intron inclusion between exons 4 & 5, or skipping beginning of exon 5 | F-36P | https://depmap.org/portal/cell_line/ACH-000487 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7578455-7578655 |
TP53 | 7157 | NM_000546.5:c.376-2A>G | CA000146 | Intron inclusion between exons 4 & 5, or skipping beginning of exon 5 | SNU-423 | https://depmap.org/portal/cell_line/ACH-000493 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7578456-7578656 |
TP53 | 7157 | NM_000546.5:c.375+2T>G | CA397844129 | Intron inclusion between exons 4 & 5 | JHH-2 | https://depmap.org/portal/cell_line/ACH-000577 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7579210-7579410 |
TP53 | 7157 | NM_000546.5:c.375+2T>C | CA397844132 | Intron inclusion between exons 4 & 5 | Sq-1 | https://depmap.org/portal/cell_line/ACH-000553 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7579210-7579410 |
TP53 | 7157 | NM_000546.5:c.376-2A>T | CA397843977 | Intron inclusion between exons 4 & 5, or skipping beginning of exon 5 | KYSE-520 | https://depmap.org/portal/cell_line/ACH-000637 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7578456-7578656 |
TP53 | 7157 | NM_000546.5:c.375+1G>A | CA397844139 | Intron inclusion between exons 4 & 5 | BICR 18 | https://depmap.org/portal/cell_line/ACH-000992 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7579211-7579411 |
TP53 | 7157 | NM_000546.5:c.375+1G>T | CA397844143 | Intron inclusion between exons 4 & 5 | KMS-27 | https://depmap.org/portal/cell_line/ACH-000576 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7579211-7579411 |
TP53 | 7157 | NM_000546.5:c.375G>A | CA000144 | Intron inclusion between exons 4 & 5 | NCI-H2347 | https://depmap.org/portal/cell_line/ACH-000875 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7579212-7579412 |
TP53 | 7157 | NM_000546.5:c.375G>T | CA10575452 | Intron inclusion between exons 4 & 5 | NCI-H82 | https://depmap.org/portal/cell_line/ACH-000355 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7579212-7579412 |
TP53 | 7157 | NM_000546.5:c.374C>T | CA000140 | Does not affect splicing | SNU-626 | https://depmap.org/portal/cell_line/ACH-000370 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr17:7579213-7579413 |
TSC1 | 7248 | NM_000368.4:c.508+1G>T | CA375373089 | Intron inclusion between exons 6 & 7 | NCI-H1793 | https://depmap.org/portal/cell_line/ACH-000888 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr9:135798634-135798834 |
VHL | 7428 | NM_000551.3:c.340+2T>C | CA351751382 | Intron inclusion between exons 1 & 2 | KMRC-3 | https://depmap.org/portal/cell_line/ACH-000313 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr3:10183773-10183973 |
VHL | 7428 | NM_000551.3:c.463+2T>C | CA16621936 | Intron inclusion between exons 2 & 3 | VMRC-RCZ | https://depmap.org/portal/cell_line/ACH-000171 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr3:10188222-10188422 |
CDKN1A | 1026 | NM_000389.4:c.446-3C>G | CA913203373 | Intron inclusion between exons 2 & 3 | TCGA-FD-A5C0-01A | https://portal.gdc.cancer.gov/cases/0628e443-3d7f-4a38-9d2a-ebc7f4f7e11d | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/d35d860d-e689-4340-bfce-bd84486beb7b | chr6:36685648-36685848 |
PTEN | 5728 | NM_000314.5:c.635-3C>G | CA645294060 | Intron inclusion between exons 6 & 7 | TCGA-ER-A19M-06A | https://portal.gdc.cancer.gov/cases/7a918706-c697-4cef-9661-346c5a612ff8 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/4ecaf812-9935-43ab-8703-88908818c6ed | chr10:87957750-87957950 |
TSC2 | 7249 | NM_000548.3:c.3285-3C>G | CA913203375 | Intron inclusion between exons 28 & 29 | TCGA-PN-A8MA-01A | https://portal.gdc.cancer.gov/cases/55add854-e63f-4335-bea9-23c3eb1e766a | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/0e8119eb-0e98-4618-944f-f2ec20d614a5 | chr16:2079454-2079654 |
PTEN | 5728 | NM_000314.5:c.635-3C>A | CA913203442 | Intron inclusion between exons 6 & 7 | TCGA-28-2509-01A | https://portal.gdc.cancer.gov/cases/aa7ad106-eadc-489e-83b2-5698652434ea | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/2c5f7603-5858-4b49-adf6-755b17ab4106 | chr10:87957750-87957950 |
TSC1 | 7248 | NM_000368.4:c.1263+4C>T | CA658657921 | Intron inclusion between exons 12 & 13 | TCGA-BR-4256-01A | https://portal.gdc.cancer.gov/cases/7b0d69ca-13a6-46e0-839c-e433bbede3ad | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/38d9fd01-d1e8-4891-be59-ca711e159e65 | chr9:132910467-132910667 |
TP53 | 7157 | NM_000546.5:c.374C>T | CA000140 | Does not affect splicing | TCGA-CV-A6JD-01A | https://portal.gdc.cancer.gov/cases/432fbb6c-331f-4d2d-834d-f6378d88107a | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/99f14438-59af-42de-a099-750ae7089b9c | chr17:7675895-7676095 |
TP53 | 7157 | NM_000546.5:c.374C>T | CA000140 | Does not affect splicing | TCGA-AG-A02N-01A | https://portal.gdc.cancer.gov/cases/8ad1c98b-5395-477e-87a8-19dff3a59c26 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/8feb1df5-b77d-4f28-aedc-ff82f25f33bb | chr17:7675895-7676095 |
MET | 4233 | NM_000245.2:c.3028+1G>T | CA358887 | Exon 14 skipping | TCGA-49-6745-01A-11R | https://portal.gdc.cancer.gov/cases/9c7875ad-ab71-4d48-b2e3-e4c7a46393e9 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/ab62a7c8-6ed3-4996-836f-580c0b4dc71f | chr7:116771890-116772090 |
MET | 4233 | NM_000245.2:c.3028+1G>T | CA358887 | Exon 14 skipping | NCI-H596 | https://depmap.org/portal/cell_line/ACH-000628 | hg19 | GDC/CCLE | https://portal.gdc.cancer.gov/legacy-archive | chr7:116411944-116412144 |
MET | 4233 | NM_000245.2:c.3028+2T>C | CA368987540 | Exon 14 skipping | TCGA-75-5122-01 | https://portal.gdc.cancer.gov/cases/78ae716b-0ca5-4c01-a053-d41288385fcd | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/6d2d8cc2-4e19-4e74-97dc-45e6eeec5e1c | chr7:116771890-116772090 |
MET | 4233 | NM_000245.2:c.3028+1G>A | CA368987532 | Exon 14 skipping | TCGA-93-7348-01 | https://portal.gdc.cancer.gov/cases/e739b4f7-ae46-45c6-9013-9571cbadaf99 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/61366adb-bf35-4f12-a12b-b69736994e74 | chr7:116771890-116772090 |
MET | 4233 | NM_000245.2:c.3028+2T>G | CA368987541 | Exon 14 skipping | TCGA-44-A47G-01 | https://portal.gdc.cancer.gov/cases/da345947-498b-4272-a231-a987ed4fe151 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/7c8cde36-afef-49e3-a389-6aa07fdf0d88 | chr7:116771890-116772090 |
MET | 4233 | NM_000245.2:c.3028+1G>C | CA368987534 | Exon 14 skipping | TCGA-55-6978-01 | https://portal.gdc.cancer.gov/cases/5134c56f-8286-4ec8-8348-237cee7dad5e | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/b0157ada-d3cb-4cf3-aceb-40e6d4beb267 | chr7:116771890-116772090 |
TP53 | 7157 | NM_000546.5:c.782+2T>G | CA10580920 | Intron inclusion between exons 7 & 8 | TCGA-F1-6875-01A | https://portal.gdc.cancer.gov/cases/283776cd-32e8-4a79-bed1-1411c9d3a9e0 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/947950b1-2d14-4fef-992f-4d602ef9a19a | chr17:7674079-7674279 |
PTEN | 5728 | NM_000314.7:c.1026+1G>A | CA000103 | Intron inclusion between exons 8 & 9, and loss of exon 9 expression | TCGA-BG-A0MK-01A | https://portal.gdc.cancer.gov/cases/1f9b1b71-8753-4cd5-a585-708bea8ff1fa | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/bde709f0-851d-4f9c-bed0-6806dd68f1ae | chr10:87961019-87961219 |
PTEN | 5728 | NM_000314.7:c.1026+2T>G | CA377486192 | Intron inclusion between exons 8 & 9, and loss of exon 9 expression | TCGA-N5-A4RF-01A | https://portal.gdc.cancer.gov/cases/ee6083aa-9453-44ff-8cc5-79b71fea289d | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/1bdedbef-6a43-4917-8f14-86a567ceda82 | chr10:87961020-87961220 |
CDKN2A | 1029 | NM_000077.4:c.458-1G>A | CA373085086 | Intron inclusion between exons 2 & 3 | TCGA-C5-A8YQ-01A | https://portal.gdc.cancer.gov/cases/de3cfb81-25c3-4137-8f24-ad8aa607c158 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/188cc4a3-dcc3-48d8-8981-b8e53dc9e40c | chr9:21968143-21968343 |
TP53 | 7157 | NM_000546.6:c.994-2A>C | CA397832988 | Intron inclusion between exons 9 & 10 | TCGA-LN-A8HZ-01A | https://portal.gdc.cancer.gov/cases/b782c157-6b33-4247-83df-a82dc5e5d432 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/86cad580-c6a9-40ee-9a37-952dc2a03b6d | chr17:7670617-7670817 |
NF1 | 4763 | NM_001042492.3:c.1392+1G>T | CA398999963 | Intron inclusion between exons 12 & 13 | TCGA-34-8455-01A | https://portal.gdc.cancer.gov/cases/02ba8600-9d3d-489d-9f0b-f1c59085ecd6 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/6fd20de8-bad6-4d66-b4a4-5dd95932fcab | chr17:31206272-31206472 |
TP53 | 7157 | NM_000546.6:c.993+1G>C | CA16607519 | Intron inclusion between exons 9 & 10 | TCGA-22-5483-01A | https://portal.gdc.cancer.gov/cases/b162b3bf-8097-4466-b08f-6434f541038f | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/020200d6-a35a-4aa4-81f4-e828c4158d54 | chr17:7673434-7673634 |
TP53 | 7157 | NM_000546.6:c.782+1G>A | CA10575449 | Intron inclusion between exons 7 & 8 | TCGA-N8-A4PI-01A | https://portal.gdc.cancer.gov/cases/8c8d4495-1a1d-4942-b0f0-1445fd05dfce | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/2abdfc88-7d9c-4c15-9238-66da6fcebb6d | chr17:7674080-7674280 |
TP53 | 7157 | NM_000546.6:c.783-1G>A | CA397837303 | Intron inclusion between exons 7 & 8 | TCGA-BR-7723-01A | https://portal.gdc.cancer.gov/cases/bb3729fe-2fa2-47fc-afde-c14036cb84f5 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/f7030950-d61b-45e9-b15a-cd169b76eb42 | chr17:7673738-7673938 |
TP53 | 7157 | NM_000546.6:c.782+1G>A | CA10575449 | Intron inclusion between exons 7 & 8 | TCGA-3B-A9HU-01A | https://portal.gdc.cancer.gov/cases/9ef5cdda-8aba-4027-8cf0-e53b2f54704a | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/24527664-706e-4289-b48f-3bdaeba17c99 | chr17:7674080-7674280 |
CDKN2A | 1029 | NM_000077.5:c.150+1G>T | CA373086473 | Intron inclusion between exons 1 & 2 | TCGA-L7-A6VZ-01A | https://portal.gdc.cancer.gov/cases/dc4062d7-1c81-4b19-aabd-8307a0df5029 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/bc66b64c-d240-42e4-97ce-ce1d8e91a0c9 | chr9:21974577-21974777 |
CDKN2A | 1029 | NM_000077.5:c.151-2A>T | CA373086463 | Intron inclusion between exons 1 & 2 | TCGA-IG-A3I8-01A | https://portal.gdc.cancer.gov/cases/7bf3f18b-a013-48d2-a743-26a57fdbe4c4 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/93108f95-3e60-4e59-a074-0bdea7eddff9 | chr9:21971110-21971310 |
MSH2 | 4436 | NM_000251.3:c.1276+2T>C | CA027509 | Intron inclusion between exons 7 & 8 | TCGA-EO-A3AZ-01A | https://portal.gdc.cancer.gov/cases/38bf8476-fde7-423b-bbaa-15483207de39 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/29c1217b-faab-401b-87a5-1d97ef53ea11 | chr2:47429843-47430043 |
TSC2 | 7249 | NM_000548.5:c.3132-1G>C | CA018622 | Intron inclusion between exons 27 & 28 | TCGA-99-8033-01A | https://portal.gdc.cancer.gov/cases/9582b436-145b-4f84-8f7f-8b39b8254cc1 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/dad25a07-fb2a-42d0-95b6-b072afbdaa7c | chr16:2079175-2079375 |
TSC2 | 7249 | NM_000548.5:c.3610+1G>C | CA394289761 | Intron inclusion between exons 30 & 31 | TCGA-T7-A92I-01A | https://portal.gdc.cancer.gov/cases/df1e2e79-0126-4f3a-85e3-36f59be04622 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/3cb0499b-d7ab-462d-8c38-1e510fc7caab | chr16:2080278-2080478 |
NF1 | 4763 | NM_001042492.3:c.7615+1G>A | CA399017902 | Intron inclusion between exons 51 & 52 | TCGA-G4-6628-01A | https://portal.gdc.cancer.gov/cases/2c0a725a-e829-4d84-89d9-d0d47f6cfa37 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/9b8c5eb0-aa20-415e-877d-6514d341e72d | chr17:31352315-31352515 |
VHL | 7428 | NM_000551.4:c.464-2A>G | CA357046 | Intron inclusion between exons 2 & 3 | TCGA-XK-AAIW-01A | https://portal.gdc.cancer.gov/cases/2270d09e-a8be-4b7d-9520-a4bb1cd053c0 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/26ee7d41-63b4-40a5-a636-5384bb909d4c | chr3:10149685-10149885 |
TP53 | 7157 | NM_000546.6:c.919+2T>G | CA397836235 | Intron inclusion between exons 8 & 9 | TCGA-DM-A1D0-01A | https://portal.gdc.cancer.gov/cases/1b0b0533-7c4f-4edd-a75e-8b56f49d54ab | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/27b7dacc-19cb-4afc-87fb-3a1e6a324001 | chr17:7673599-7673799 |
PTEN | 5728 | NM_000314.8:c.210-2A>G | CA377481223 | Intron inclusion between exons 3 & 4 | TCGA-EB-A44P-01A | https://portal.gdc.cancer.gov/cases/6b02def4-04ca-4ba0-bc48-262c4d8a294c | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/2b5332b4-1f7c-417a-8077-3086d631013d | chr10:87930944-87931144 |
TP53 | 7157 | NM_000546.6:c.1101-2A>G | CA000038 | Intron inclusion between exons 10 & 11 | TCGA-G2-A2EL-01A | https://portal.gdc.cancer.gov/cases/30c7445e-d0c4-4a0f-96a4-27e4259ee10b | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/7e32b31e-0cc2-4a07-a4b0-1c1ff6e881f1 | chr17:7669592-7669792 |
TP53 | 7157 | NM_000546.6:c.75-2A>G | CA397848502 | Intron inclusion between exons 2 & 3 | TCGA-ZQ-A9CR-01A | https://portal.gdc.cancer.gov/cases/f76122f7-343a-4345-9fb6-e46ad0b75cb0 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/6cbba8b5-f988-442f-b5d9-e02cbe70459e | chr17:7676305-7676505 |
TP53 | 7157 | NM_000546.6:c.75-1G>T | CA397848485 | Intron inclusion between exons 2 & 3 | TCGA-OR-A5JA-01A | https://portal.gdc.cancer.gov/cases/48402d61-3a6b-4603-bfa0-b1a38a47d34d | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/afe378f3-268d-4924-957b-43d052a0ad71 | chr17:7676304-7676504 |
TP53 | 7157 | NM_000546.6:c.920-2A>G | CA000500 | Intron inclusion between exons 8 & 9 | TCGA-44-3918-01A | https://portal.gdc.cancer.gov/cases/6e3b6b72-142d-4b8d-a462-28a205796e41 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/b66b7858-7464-47fd-8c42-0fe2917fb6a4 | chr17:7673510-7673710 |
TP53 | 7157 | NM_000546.6:c.993+2T>C | CA397835629 | Intron inclusion between exons 9 & 10 | TCGA-VQ-A94R-01A | https://portal.gdc.cancer.gov/cases/95edfabe-0b35-4cdd-aed4-e2234d806f35 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/d7f382c8-f485-467f-9268-1183a7b95323 | chr17:7673433-7673633 |
CDKN1B | 1027 | NM_004064.5:c.476-1G>C | CA383972469 | Intron inclusion between exons 1 & 2 | TCGA-D8-A73U-01A | https://portal.gdc.cancer.gov/cases/96f02be7-f2df-483c-8968-a5bd2d887206 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/2f642cd6-58c1-45dd-8fb8-6592f69ae8a3 | chr12:12718724-12718924 |
PTEN | 5728 | NM_000314.8:c.801+1G>T | CA377485117 | Intron inclusion between exons 7 & 8 | TCGA-85-A50Z-01A | https://portal.gdc.cancer.gov/cases/8a0f8d00-86a0-4c63-a8d5-43bd2e13bd96 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/a0a9c113-2953-4595-b1c9-d55fc7a258d6 | chr10:87957920-87958120 |
NF1 | 4763 | NM_001042492.3:c.7063-1G>A | CA399015496 | Intron inclusion between exons 47 & 48 | TCGA-W3-AA1V-06B | https://portal.gdc.cancer.gov/cases/9817ec15-605a-40db-b848-2199e5ccbb7b | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/68ff9e50-a969-4389-95f0-4d23d5ede61a | chr17:31342908-31343108 |
TSC2 | 7249 | NM_000548.5:c.1716+1G>T | CA394270767 | Intron inclusion between exons 16 & 17 | TCGA-55-7907-01A | https://portal.gdc.cancer.gov/cases/bf755bc2-b7aa-4c3c-8b3c-58b089b5cab6 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/ec343407-2a9c-42fc-800f-26f9e0d94c7c | chr16:2065536-2065736 |
TP53 | 7157 | NM_000546.6:c.560-2A>C | CA397840962 | Intron inclusion between exons 5 & 6 | TCGA-N5-A4R8-01A | https://portal.gdc.cancer.gov/cases/8c113bc1-101b-405f-9eb1-8c9e8ebbe185 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/7fdc9538-9f4f-41c9-904c-fd2e13e40cda | chr17:7674873-7675073 |
RB1 | 5925 | NM_000321.3:c.2325+1G>A | CA388167737 | Intron inclusion between exons 22 & 23 | TCGA-ZF-AA5H-01A | https://portal.gdc.cancer.gov/cases/04477379-6c51-45d9-b9b9-d05d53b53945 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/a2140d85-0e86-40f0-925c-2706a85cebe7 | chr13:48465012-48465212 |
TSC2 | 7249 | NM_000548.5:c.1119+2T>C | CA394318502 | Intron inclusion between exons 11 & 12 | TCGA-XK-AAIW | https://portal.gdc.cancer.gov/cases/2270d09e-a8be-4b7d-9520-a4bb1cd053c0 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/26ee7d41-63b4-40a5-a636-5384bb909d4c | chr16:2060715-2060915 |
TP53 | 7157 | NM_000546.6:c.672+2T>C | CA397839763 | Intron inclusion between exons 6 & 7 | TCGA-FR-A729-06A | https://portal.gdc.cancer.gov/cases/f55914f3-f19a-4d93-b368-554ec1a9cf40 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/2ee276e3-00ed-4b74-a611-5be11abd6a99 | chr17:7674757-7674957 |
BRCA1 | 672 | NM_007294.4:c.5073A>C | CA500146299 | Intron inclusion between exons 16 & 17 | TCGA-CD-A4MG-01A | https://portal.gdc.cancer.gov/cases/028632ed-d75a-49bb-b579-41962ba502fe | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/63d9c96d-6777-4aaa-9da9-e272440d205b | chr17:43067509-43067709 |
TP53 | 7157 | NM_000546.6:c.919+1G>A | CA397836247 | Intron inclusion between exons 8 & 9 | TCGA-V5-A7RC-01B | https://portal.gdc.cancer.gov/cases/aac385c1-42f9-4d9e-b9bf-94ca13ebc5ae | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/3e321257-438d-434b-9905-cbeb41d32e26 | chr17:7673600-7673800 |
PTEN | 5728 | NM_000314.6:c.1026+1G>C | CA000253 | Intron inclusion between exons 8 & 9, and loss of exon 9 expression | TCGA-EE-A2GU-06A | https://portal.gdc.cancer.gov/cases/24faa36a-268d-4a13-b3ae-eacd431a2bcc | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/0ca21bd7-9ddc-478f-a156-1f262c25c6ce | chr10:87961019-87961219 |
RB1 | 5925 | NM_000321.3:c.2489+1G>C | CA10605763 | Intron inclusion between exons 23 & 24 | TCGA-O2-A5IB-01A | https://portal.gdc.cancer.gov/cases/8be10ce9-220d-4816-a575-8e8e7f041114 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/0f0b0f7a-0e16-4fb5-ad6c-0545b9fdd4fb | chr13:48465269-48465469 |
TP53 | 7157 | NM_000546.6:c.376-1G>T | CA397843969 | Intron inclusion between exons 4 & 5, or skipping beginning of exon 5 | TCGA-55-A4DF-01A | https://portal.gdc.cancer.gov/cases/362000e4-cf7c-48fc-93cc-8f5994b442ea | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/4a5e9e8a-8c48-48cf-8bf0-eb564611d382 | chr17:7675137-7675337 |
TP53 | 7157 | NM_000546.6:c.559+1G>T | CA397841061 | Intron inclusion between exons 5 & 6, or skipping end of exon 5 | TCGA-13-1492-01A | https://portal.gdc.cancer.gov/cases/63c6a89b-b28c-434a-a632-5de6545db731 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/dd313b28-378f-4d7c-a9f1-0cc0ff4f4151 | chr17:7674952-7675152 |
TSC2 | 7249 | NM_000548.5:c.1946+2T>C | CA016272 | Intron inclusion between exons 18 & 19 | TCGA-DI-A1BU-01A | https://portal.gdc.cancer.gov/cases/53245616-e095-4616-89bb-6062669122da | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/e30e653f-7d2d-4f3b-b90d-451970e9aa8e | chr16:2071518-2071718 |
TP53 | 7157 | NM_000546.6:c.994-2A>T | CA397832984 | Intron inclusion between exons 9 & 10 | TCGA-85-A53L-01A | https://portal.gdc.cancer.gov/cases/8a933b93-87b3-4f1f-8ef1-1d095cea032e | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/aa1718a4-451e-48fa-bd3d-aefa9b776f0d | chr17:7670617-7670817 |
TP53 | 7157 | NM_000546.6:c.672+2T>A | CA397839761 | Intron inclusion between exons 6 & 7 | TCGA-A8-A09Q-01A | https://portal.gdc.cancer.gov/cases/09c2bc35-c21f-4aa4-ac30-0d8db02ad811 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/3944cfdd-145f-4e75-b4a7-0ac53a47acee | chr17:7674757-7674957 |
TP53 | 7157 | NM_000546.6:c.673-1G>C | CA397839543 | Intron inclusion between exons 6 & 7 | TCGA-UF-A718-01A | https://portal.gdc.cancer.gov/cases/2135b007-b714-495b-9b30-92010179ec33 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/335dff0a-66ea-4f84-9180-d71e12406789 | chr17:7674191-7674391 |
TP53 | 7157 | NM_000546.6:c.673-1G>T | CA10583677 | Intron inclusion between exons 6 & 7 | TCGA-56-A4BW-01A | https://portal.gdc.cancer.gov/cases/b838706d-01e9-45aa-869d-a94168773bcd | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/431acc97-69d2-4cf9-9e56-d323d6abad5b | chr17:7674191-7674391 |
TP53 | 7157 | NM_000546.6:c.994-1G>T | CA397832981 | Intron inclusion between exons 9 & 10 | TCGA-44-6145-01A | https://portal.gdc.cancer.gov/cases/6144d666-8f77-4efe-95f1-f9e5c4e5e056 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/6f00af19-888a-4b18-bafc-571ce343fae5 | chr17:7670616-7670816 |
CDKN2A | 1029 | NM_000077.5:c.151-2A>G | CA373086464 | Intron inclusion between exons 1 & 2 | TCGA-33-A5GW-01A | https://portal.gdc.cancer.gov/cases/8d32bea5-51ef-4ab0-83ae-1de31e7d4b43 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/a27d0a25-a685-4cce-aec6-0fe8a48253fc | chr9:21971110-21971310 |
PTEN | 5728 | NM_000314.8:c.635-1G>C | CA10577419 | Intron inclusion between exons 6 & 7 | TCGA-77-8136-01A | https://portal.gdc.cancer.gov/cases/c4ca7861-2fcc-4ed7-a240-bea9c43d5fb1 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/b1eda4d7-a972-46ed-884a-21cce611c573 | chr10:87957752-87957952 |
TP53 | 7157 | NM_000546.6:c.1101-2A>T | CA397830922 | Intron inclusion between exons 10 & 11 | TCGA-IQ-A61E-01A | https://portal.gdc.cancer.gov/cases/d3f786a6-5d72-4d6e-85fd-0c6ade9f6e95 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/ded8dbac-18ed-4629-8d2d-a5e4b3b8045f | chr17:7669592-7669792 |
RB1 | 5925 | NM_000321.3:c.1814+2T>A | CA388165677 | Intron inclusion between exons 18 & 19 | TCGA-44-7660-01A | https://portal.gdc.cancer.gov/cases/a534b96b-1665-444a-9308-e610f2f0e510 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/d6140094-7640-48e5-8d0b-1622593cbbd8 | chr13:48453013-48453213 |
TP53 | 7157 | NM_000546.6:c.96+1G>A | CA397848261 | Intron inclusion between exons 3 & 4 | TCGA-43-A56V-01A | https://portal.gdc.cancer.gov/cases/bb2a7057-6df5-4eb9-ad0f-9ac47314889e | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/9d208065-0332-4b79-942f-50149a793c95 | chr17:7676281-7676481 |
TP53 | 7157 | NM_000546.6:c.920-1G>T | CA397836174 | Intron inclusion between exons 8 & 9 | TCGA-KK-A7AU-01A | https://portal.gdc.cancer.gov/cases/39303e7c-5baf-479d-a112-d8f03a18c621 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/74d92e29-13fd-4563-ac09-70fbb37543f8 | chr17:7673609-7673609 |
VHL | 7428 | NM_000551.4:c.464-1G>C | CA357081 | Intron inclusion between exons 2 & 3 | TCGA-B0-5095-01A | https://portal.gdc.cancer.gov/cases/616bc43c-34b9-48e8-8219-4ef4d052f91b | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/241089f8-afa4-486f-8af9-61232df7f1c8 | chr3:10149686-10149886 |
NF2 | 4771 | NM_000268.4:c.1575-1G>A | CA411149982 | Intron inclusion between exons 14 & 15 | TCGA-QK-A6II-01A | https://portal.gdc.cancer.gov/cases/3aea4cf5-ade6-4747-b1d1-c431564f5fa6 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/1b6c23d6-1fc8-4736-9160-bc14cbca39ec | chr22:29681338-29681538 |
PTEN | 5728 | NM_000314.8:c.492+1G>A | CA377482838 | Intron inclusion between exons 5 & 6 | TCGA-SJ-A6ZJ-01A | https://portal.gdc.cancer.gov/cases/fbfed398-2a44-44a9-83cf-657c29cb7d28 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/a92857dd-082b-495d-b078-f879a773e48d | chr10:87933152-87933352 |
PTEN | 5728 | NM_000314.8:c.493-2A>G | CA000478 | Intron inclusion between exons 5 & 6 | TCGA-63-A5MG-01A | https://portal.gdc.cancer.gov/cases/05d4d9c7-fb6f-439a-bb97-f0e2737a7773 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/afc11905-e967-447e-9d3d-a04d829cf41f | chr10:87952016-87952216 |
RB1 | 5925 | NM_000321.3:c.1215+1G>T | CA388161720 | Intron inclusion between exons 12 & 13 | TCGA-44-7669-01A | https://portal.gdc.cancer.gov/cases/4b22ad71-c585-4077-ad3c-c6e026d0c7fa | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/b3c414f8-454c-4a45-8d72-69ed5aafcc11 | chr13:48373393-48373593 |
TSC1 | 7248 | NM_000368.4:c.1264-1G>A | CA375366235 | Intron inclusion between exons 12 & 13 | TCGA-FD-A6TI-01A | https://portal.gdc.cancer.gov/cases/0f956645-35aa-4a68-98d3-ea589459be00 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/308af0f5-ff85-4f91-9627-515654738efa | chr9:132907271-132907471 |
TP53 | 7157 | NM_000546.6:c.376-2A>C | CA397843982 | Intron inclusion between exons 4 & 5, or skipping beginning of exon 5 | TCGA-E2-A1II-01A | https://portal.gdc.cancer.gov/cases/0fe1419e-a005-407c-8ae7-15c4c1579539 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/da028564-cb16-45cd-b6a4-be4e0ea04438 | chr17:7675138-7675338 |
TP53 | 7157 | NM_000546.6:c.97-1G>A | CA397848094 | Intron inclusion between exons 3 & 4, or skipping beginning of exon 4 | TCGA-NK-A7XE-01A | https://portal.gdc.cancer.gov/cases/0366c911-3267-41a0-af4b-5e74577ae16a | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/495d2a59-b011-4e2e-be72-2f8d99cf0dfa | chr17:7676173-7676373 |
CDH1 | 999 | NM_004360.5:c.1565+1G>A | CA288040 | Intron inclusion between exons 10 & 11 | TCGA-EW-A1IZ-01A | https://portal.gdc.cancer.gov/cases/c0f88fc5-56b0-4255-bbd1-9a21ced8b37b | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/5bd5563d-52f5-41b9-be70-17a8e312bd56 | chr16:68815660-68815860 |
RUNX1 | 861 | NM_001754.5:c.508+1G>C | CA410202462 | Intron inclusion between exons 5 & 6 | TCGA-D8-A141-01A | https://portal.gdc.cancer.gov/cases/42f6f503-4cf6-4a8e-b5fe-b44bccf6b38b | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/02bd6a20-b1f1-4e81-af99-6ad860e7aeff | chr21:34880456-34880656 |
KEAP1 | 9817 | NM_203500.2:c.1708+1G>T | CA403983764 | Intron inclusion between exons 5 & 6 | TCGA-55-A4DF-01A | https://portal.gdc.cancer.gov/cases/362000e4-cf7c-48fc-93cc-8f5994b442ea | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/4a5e9e8a-8c48-48cf-8bf0-eb564611d382 | chr19:10489091-10489291 |
ARID1A | 8289 | NM_006015.6:c.4101+1G>A | CA339172553 | Intron inclusion between exons 17 & 18 | TCGA-2F-A9KP-01A | https://portal.gdc.cancer.gov/cases/65d1eaec-28db-4a41-a4db-1a710fcb24ad | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/c2ac640d-3367-4299-b520-adf514f2d2e0 | chr1:26773799-26773999 |
ARID2 | 196528 | NM_152641.4:c.5364-1G>C | CA384452312 | Intron inclusion between exons 20 & 21 | TCGA-BR-7704-01A | https://portal.gdc.cancer.gov/cases/9ef7582b-d4c1-4036-a1ed-ef65aa46fc60 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/0a196ab7-8b8b-4c07-9e8a-360c2eac934c | chr12:45904833-45905033 |
KEAP1 | 9817 | NM_203500.2:c.1709-1G>T | CA403982510 | Intron inclusion between exons 5 & 6 | TCGA-44-7667-01A | https://portal.gdc.cancer.gov/cases/7f6455e8-fa3d-4452-acb2-8c9995073072 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/c9a5da35-0249-4422-aafa-65f8264c37d2 | chr19:10486719-10486919 |
KMT2D | 8085 | NM_003482.4:c.16521+1G>T | CA384675602 | Intron inclusion between exons 53 & 54 | TCGA-63-7021-01A | https://portal.gdc.cancer.gov/cases/08ce6fee-2e8b-4398-8c99-aa426d03f523 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/1ff362fc-de0a-42a8-8cdf-efc83a844b99 | chr12:49021942-49022142 |
PIK3R1 | 5295 | NM_181523.3:c.1300-2A>G | CA359880031 | Intron inclusion between exons 10 & 11 | TCGA-98-A53B-01A | https://portal.gdc.cancer.gov/cases/e88eb552-addc-4030-9c54-4bf7d381a703 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/dce0a3b2-7ac2-48bd-af13-2d939bc1414e | chr5:68293607-68293807 |
SETD2 | 29072 | NM_014159.7:c.4715+1G>C | CA352515763 | Intron inclusion between exons 5 & 6 | TCGA-IC-A6RF-01A | https://portal.gdc.cancer.gov/cases/9dfddc49-1e66-4e26-9d71-40d748cca0a6 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/8b0af5eb-d4bb-48f7-9977-f36716c89b0c | chr3:47113775-47113975 |
ATRX | 546 | NM_000489.6:c.4557+2T>G | CA413707632 | Intron inclusion between exons 15 & 16 | TCGA-D7-A6EX-01A | https://portal.gdc.cancer.gov/cases/1b391187-1d9a-4428-ba9a-ef1800f17d3e | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/d6cc5446-1118-4b00-88d9-8b40b467293c | chrX:77652012-77652212 |
KEAP1 | 9817 | NM_203500.2:c.1709-2A>C | CA403982536 | Intron inclusion between exons 5 & 6 | TCGA-EO-A22U-01A | https://portal.gdc.cancer.gov/cases/30bc72d5-07b5-48d2-b025-bba9bcf2f09f | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/2d0c8fc2-0cd4-41a4-8f55-85aa81b11eec | chr19:10486720-10486920 |
SMARCA4 | 6597 | NM_003072.5:c.2438+1G>T | CA404053370 | Intron inclusion between exons 16 & 17 | TCGA-78-8640-01A | https://portal.gdc.cancer.gov/cases/18478121-f1d1-4bdd-9511-8ab22f4a0660 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/0a50c26b-ee2c-4953-aacc-668589736fa6 | chr19:11013013-11013213 |
ARID1A | 8289 | NM_006015.6:c.4101+1G>C | CA339172554 | Intron inclusion between exons 17 & 18 | TCGA-D7-A4YU-01A | https://portal.gdc.cancer.gov/cases/32b44138-64e2-4bbf-aa2f-93a3b07ec670 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/0e95297c-d107-4f10-8d32-4f24ca81f2a0 | chr1:26773799-26773999 |
KMT2C | 58508 | NM_170606.3:c.9750+1G>A | CA370106459 | Intron inclusion between exons 42 & 43 | TCGA-G2-A2ES-01A | https://portal.gdc.cancer.gov/cases/72d8eae8-9efb-45b2-acbd-82c6b5732e38 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/7013e919-da01-45e3-8c2b-bef2bff71b31 | chr7:152167045-152167245 |
SMARCA4 | 6597 | NM_003072.5:c.4171-2A>G | CA404072660 | Intron inclusion between exons 29 & 30 | TCGA-QK-AA3J-01A | https://portal.gdc.cancer.gov/cases/677c9d22-e518-43ab-9668-a606c35a6eeb | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/441d031d-6fb7-473c-9ee5-750d22872418 | chr19:11041205-11041405 |
BCOR | 54880 | NM_001123385.2:c.4173+2T>C | CA412736320 | Intron inclusion between exons 9 & 10 | TCGA-HU-8608-01A | https://portal.gdc.cancer.gov/cases/c6316fb5-99a7-4adf-832f-dce44ddcd3aa | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/c74e8393-4e09-4c1a-a6c9-b27715aa293c | chrX:40062644-40062844 |
RECQL4 | 9401 | NM_004260.4:c.2201-2A>T | CA372679488 | Intron inclusion between exons 13 & 14 | TCGA-B5-A1MW-01A | https://portal.gdc.cancer.gov/cases/e2b48d0d-57ca-400b-8598-55ef132e350e | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/103dae8f-d787-4fa2-bd90-ccd93e851d07 | chr8:144513382-144513582 |
KEAP1 | 9817 | NM_203500.2:c.1708+2T>A | CA403983744 | Intron inclusion between exons 5 & 6 | TCGA-55-6972-01A | https://portal.gdc.cancer.gov/cases/c4d1e105-28b7-48df-abef-fbe09782fdb2 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/f591cea3-f2ba-42b1-8372-74bcd834fbef | chr19:10489090-10489290 |
STK11 | 6794 | NM_000455.5:c.291-1G>T | CA402947616 | Intron inclusion between exons 1 & 2 | TCGA-50-5072-01A | https://portal.gdc.cancer.gov/cases/1575148b-0f63-44ee-86fd-93ae1a02be0b | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/fe6ef453-e5bb-4929-838e-bb0cd2670211 | chr19:1218316-1218516 |
CTCF | 10664 | NM_006565.4:c.1999+1G>T | CA396324431 | Intron inclusion between exons 11 & 12 | TCGA-ZB-A96E-01A | https://portal.gdc.cancer.gov/cases/628ecfe9-9e29-4b51-a11e-96d4e9181d86 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/a3bce4b1-fb08-42b8-a380-ea3679efd24d | chr16:67636752-67636952 |
ACTB | 60 | NM_001101.5:c.803-2A>T | CA366700889 | Intron inclusion between exons 4 & 5 | TCGA-97-A4M0-01A | https://portal.gdc.cancer.gov/cases/dd63d0fd-e24b-40a5-88c5-7d3d4106631e | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/15a295ec-c4fa-4cda-8d74-4bc5fc6eb05d | chr7:5528087-5528287 |
XPC | 7508 | NM_004628.5:c.1872+2T>C | CA351538844 | Intron inclusion between exons 9 & 10 | TCGA-BF-AAP4-01A | https://portal.gdc.cancer.gov/cases/727a7579-bd82-4141-973f-794424f4d111 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/b9d61f86-5773-48e7-a85b-ebfe6e33d969 | chr3:14157909-14158109 |
PPP2R1A | 5518 | NM_014225.6:c.78+2T>C | CA407178686 | Intron inclusion between exons 1 & 2 | TCGA-FI-A3PX-01A | https://portal.gdc.cancer.gov/cases/3e8e34c8-766a-4514-97f4-8000b5350ab9 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/50c53515-1dc2-4074-850c-44e00d99d579 | chr19:52190076-52190276 |
SMARCA4 | 6597 | NM_003072.5:c.3547-2A>G | CA404065045 | Intron inclusion between exons 25 & 26 | TCGA-B0-5098-01A | https://portal.gdc.cancer.gov/cases/3be0bc1d-d81f-4769-b650-8cc8858e45db | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/3d0720e0-adcb-458c-be22-0044b6d43fc7 | chr19:11033188-11033388 |
PIK3R1 | 5295 | NM_181523.3:c.1746-1G>C | CA359883176 | Intron inclusion between exons 13 & 14 | TCGA-E1-A7YE-01A | https://portal.gdc.cancer.gov/cases/f842f756-ce78-4c99-bcf8-3bce18a4d9ef | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/89dad8cc-9f39-4ad5-92d5-be25c124265a | chr5:68295319-68295519 |
KLF6 | 1316 | NM_001300.6:c.677-2A>G | CA375872940 | Intron inclusion between exons 2 & 3 | TCGA-D3-A8GP-06A | https://portal.gdc.cancer.gov/cases/95f469b1-e109-4d0e-b9aa-2060207f8a03 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/1192634a-ecf7-4f92-895c-0c483a40a4fc | chr10:3780131-3780331 |
TGFBR2 | 7048 | NM_003242.6:c.1254+2T>G | CA351808864 | Intron inclusion between exons 4 & 5 | TCGA-CD-8531-01A | https://portal.gdc.cancer.gov/cases/efe8b105-b170-4679-8b97-c1142fefe069 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/cecc7a42-5f8f-49df-b2f8-7824bf54c8a2 | chr3:30672339-30672539 |
KDM6A | 7403 | NM_001291415.2:c.4332+1G>A | CA412777763 | Intron inclusion between exons 29 & 30 | TCGA-EJ-7331-01A | https://portal.gdc.cancer.gov/cases/b424b73a-2dfa-473f-ab56-ab382cd1cdef | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/f3d99183-836d-4111-a4c2-3a3be863a898 | chrX:45110150-45110350 |
CBL | 867 | NM_005188.4:c.1096-1G>C | CA135696 | Intron inclusion between exons 7 & 8 | TCGA-AB-2914-03A | https://portal.gdc.cancer.gov/cases/81769d23-74f4-4ca1-8fcf-3e03aa1bf3c9 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/86ef01a9-4b27-4e4c-935e-5a017436a71b | chr11:119278065-119278265 |
ARID1A | 8289 | NM_006015.6:c.1803+1G>C | CA339268869 | Intron inclusion between exons 3 & 4 | TCGA-51-6867-01A | https://portal.gdc.cancer.gov/cases/3b195845-0050-49cb-b639-1fe85a131ebe | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/6dc29c0d-31ec-4a59-b4e0-17adf46ebcfd | chr1:26731505-26731705 |
ASXL1 | 171023 | NM_015338.6:c.1720-1G>T | CA408557737 | Intron inclusion between exons 12 & 13 | TCGA-AB-2927-03A | https://portal.gdc.cancer.gov/cases/f3a80377-1d76-4754-8018-45cf49937cb8 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/d74c565f-a3f0-4dfd-95a3-11fdf69ff1e9 | chr20:32434331-32434531 |
ATRX | 546 | NM_000489.6:c.4809+2T>G | CA413704915 | Intron inclusion between exons 17 & 18 | TCGA-HT-7610-01A | https://portal.gdc.cancer.gov/cases/4839a058-fbca-44c7-bd61-81943b4d45d5 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/2f15a547-a90f-4ef0-9eae-ff923aaebf7a | chrX:77634492-77634692 |
TGFBR2 | 7048 | NM_003242.6:c.1396+1G>A | CA046428 | Intron inclusion between exons 5 & 6 | TCGA-VS-A9UR-01A | https://portal.gdc.cancer.gov/cases/adc60720-ac20-4e73-9c37-3ad3119c07d6 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/29d7bd3f-60ed-4bb9-aeb5-cbad52dcf0f4 | chr3:30674147-30674347 |
DDB2 | 1643 | NM_000107.3:c.1235-1G>A | CA380298564 | Intron inclusion between exons 9 & 10 | TCGA-D3-A8GQ-06A | https://portal.gdc.cancer.gov/cases/320a2dca-ee07-4d14-a7b8-178636636880 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/12b037ce-7d41-48f6-8b66-8a3d4c6bfb18 | chr11:47238699-47238899 |
ARID1A | 8289 | NM_006015.6:c.4994-2A>T | CA339181382 | Intron inclusion between exons 18 & 19 | TCGA-LG-A6GG-01A | https://portal.gdc.cancer.gov/cases/c618da6d-3c66-4a6a-8832-3526a3b75410 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/6386f38c-5249-4922-893e-01f4c3d4bae9 | chr1:26775475-26775675 |
ARID1A | 8289 | NM_006015.6:c.3539+1G>A | CA339166598 | Intron inclusion between exons 13 & 14 | TCGA-FP-8099-01A | https://portal.gdc.cancer.gov/cases/5956529e-f359-47c9-8222-0bd7f68c1e65 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/cfbfbde3-36ac-4476-9716-2a22b4836e55 | chr1:26772533-26772733 |
STK11 | 6794 | NM_000455.5:c.735-1G>T | CA402950309 | Intron inclusion between exons 5 & 6 | TCGA-78-7535-01A | https://portal.gdc.cancer.gov/cases/46592b7b-6968-42a6-83af-0917c9f4a9a5 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/9d211e37-9c7e-4773-b306-f08864bbc4d7 | chr19:1221112-1221312 |
STK11 | 6794 | NM_000455.5:c.863-2A>T | CA402951137 | Intron inclusion between exons 6 & 7 | TCGA-91-6849-01A | https://portal.gdc.cancer.gov/cases/953a908d-0993-42f6-853b-512611d19a2c | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/f5b61758-7ddc-4ec1-a503-c6d7c0f05b34 | chr19:1221847-1222047 |
CDH1 | 999 | NM_004360.5:c.1936+1G>T | CA396467291 | Intron inclusion between exons 12 & 13 | TCGA-D8-A1Y1-01A | https://portal.gdc.cancer.gov/cases/38a631a1-6875-4216-a335-ee93c90a86d6 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/9ade8f37-1fe0-491d-8c0f-4a0e9d24c4ee | chr16:68822126-68822326 |
CDH1 | 999 | NM_004360.5:c.1936+1G>A | CA396467289 | Intron inclusion between exons 12 & 13 | TCGA-CC-5260-01A | https://portal.gdc.cancer.gov/cases/ca8afb2c-be3d-41e8-8dbc-19fe7ab6154b | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/3e28e616-0a0c-4183-9dde-31c208733b69 | chr16:68822126-68822326 |
EP300 | 2033 | NM_001429.4:c.4453-2A>G | CA411702416 | Intron inclusion between exons 27 & 28 | TCGA-SW-A7EA-01A | https://portal.gdc.cancer.gov/cases/76c666e8-75c0-4e82-978c-1e346435b0fa | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/2082e499-f139-412c-8111-e1c2143d1668 | chr22:41172397-41172597 |
BAP1 | 8314 | NM_004656.4:c.1251-1G>C | CA353102566 | Intron inclusion between exons 12 & 13 | TCGA-4Z-AA89-01A | https://portal.gdc.cancer.gov/cases/604c0d60-6ba9-4d2f-98db-e310c58bc8ca | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/98972595-8a56-4d79-ba81-5f5745189f23 | chr3:52403795-52403995 |
CDC73 | 79577 | NM_024529.5:c.1316+1G>A | CA344078079 | Intron inclusion between exons 14 & 15 | TCGA-T9-A92H-01A | https://portal.gdc.cancer.gov/cases/81a7184e-f9f5-4e3f-9603-5f5642386c1e | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/69b936e8-5a99-4f15-bccc-1b3996f743db | chr1:193233055-193233255 |
DNMT3A | 1788 | NM_022552.5:c.1668-1G>A | CA346072048 | Intron inclusion between exons 14 & 15 | TCGA-AB-2822-03A | https://portal.gdc.cancer.gov/cases/15b2be7d-bd75-4236-b896-2ef25edd14b8 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/7d3edc45-e241-4691-9fdd-86a1234ac512 | chr2:25244239-25244439 |
SETD2 | 29072 | NM_014159.7:c.4715+1G>A | CA352515764 | Intron inclusion between exons 5 & 6 | TCGA-DD-AADK-01A | https://portal.gdc.cancer.gov/cases/40f30ffb-51de-4786-a88f-16c170aac207 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/594f7d95-5ced-4a62-bdbb-e42a3b80c5a7 | chr3:47113775-47113975 |
TP53BP1 | 7158 | NM_001141980.3:c.4100+1G>A | CA392158868 | Intron inclusion between exons 19 & 20 | TCGA-NH-A50T-01A | https://portal.gdc.cancer.gov/cases/490eabca-4575-4bd6-9604-6b6e23d069ce | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/9d841060-1fae-4e70-833f-2b676c4d3180 | chr15:43421754-43421954 |
CTCF | 10664 | NM_006565.4:c.781+2T>G | CA396308597 | Intron inclusion between exons 3 & 4 | TCGA-B6-A0RI-01A | https://portal.gdc.cancer.gov/cases/bfd55808-dddd-44c3-97d7-41600497b992 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/34796738-88a5-4076-b7dc-18f5e092c7ee | chr16:67611515-67611715 |
PIK3R1 | 5295 | NM_181523.3:c.1299+2T>C | CA359880010 | Intron inclusion between exons 10 & 11 | TCGA-DF-A2L0-01A | https://portal.gdc.cancer.gov/cases/7adaf608-19a5-4184-8b79-bbc6f9cf24ae | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/ce0374cf-bde7-4d3d-baa7-5d0ccc2b0a82 | chr5:68293385-68293585 |
SPOP | 8405 | NM_001007228.2:c.79-1G>T | CA400157459 | Intron inclusion between exons 2 & 3 | TCGA-GV-A3JX-01A | https://portal.gdc.cancer.gov/cases/d9dcbb57-f6c2-4465-8a60-afe876e113ca | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/12cd70a9-27a4-482c-86c0-8c8e9e90538d | chr17:49621968-49622168 |
NBN | 4683 | NM_002485.5:c.1845+1G>A | CA371654960 | Intron inclusion between exons 11 & 12 | TCGA-UZ-A9PK-01A | https://portal.gdc.cancer.gov/cases/92dec9c3-27c1-48c4-8184-5d8d12678992 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/1facbbcf-fb31-4206-9b90-e3bb8f89deee | chr8:89953143-89953343 |
SMARCE1 | 6605 | NM_003079.5:c.715-1G>A | CA399364518 | Intron inclusion between exons 8 & 9 | TCGA-D3-A2JN-06A | https://portal.gdc.cancer.gov/cases/20ae4c90-ea2e-42e8-bc0e-f0e6be0dadeb | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/949ab5b8-7f57-4c07-8138-b04ae85caff3 | chr17:40631594-40631794 |
BAP1 | 8314 | NM_004656.4:c.660-2A>G | CA353107671 | Intron inclusion between exons 8 & 9 | TCGA-UD-AAC4-01A | https://portal.gdc.cancer.gov/cases/2b740646-7cd4-4c7f-890a-7b3db6ebc1b8 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/4d5192a5-cc7e-4354-93da-b79abc388a35 | chr3:52406278-52406478 |
MAP2K4 | 6416 | NM_003010.4:c.1087-1G>C | CA398242403 | Intron inclusion between exons 10 & 11 | TCGA-BH-A1EY-01A | https://portal.gdc.cancer.gov/cases/0741b5db-4405-42ba-b63a-c6ee4f341480 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/68dce02c-1510-4259-891a-230bc42bab76 | chr17:12141046-12141246 |
POLE | 5426 | NM_006231.4:c.331-2A>G | CA387368436 | Intron inclusion between exons 4 & 5 | TCGA-CG-5721-01A | https://portal.gdc.cancer.gov/cases/588abaea-ab16-42f4-9457-5901ee791b5f | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/7beed40c-eb30-4544-8c08-685099bd746e | chr12:132679948-132680148 |
POLD1 | 5424 | NM_002691.4:c.2251-1G>T | CA406983918 | Intron inclusion between exons 18 & 19 | TCGA-HJ-7597-01A | https://portal.gdc.cancer.gov/cases/83d681f4-6c0e-45cc-a31d-0b1b31c8e073 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/1757cc62-53b9-4f32-af19-94343745f8ef | chr19:50413641-50413841 |
CDH1 | 999 | NM_004360.5:c.687+1G>T | CA396458161 | Intron inclusion between exons 5 & 6 | TCGA-3M-AB47-01A | https://portal.gdc.cancer.gov/cases/85c11b74-9e50-4da1-8c0b-d5677cc801b1 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/2534fc7a-22d7-45e9-b3ed-7d34f633aa00 | chr16:68808749-68808949 |
SPOP | 8405 | NM_001007228.2:c.79-1G>C | CA400157460 | Intron inclusion between exons 2 & 3 | TCGA-CR-7388-01A | https://portal.gdc.cancer.gov/cases/511b1de1-b855-47bb-a2f8-58dc5792be47 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/3881612a-3a1f-4871-9e80-1b1bf2152b72 | chr17:49621968-49622168 |
KMT2D | 8085 | NM_003482.4:c.14644-1G>A | CA384693632 | Intron inclusion between exons 47 & 48 | TCGA-85-7843-01A | https://portal.gdc.cancer.gov/cases/01417822-b608-4934-8fe0-594315212be5 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/cc39353d-336c-4810-9b78-9a135840fc68 | chr12:49027223-49027423 |
POLE | 5426 | NM_006231.4:c.3379-1G>T | CA387389561 | Intron inclusion between exons 27 & 28 | TCGA-55-8302-01A | https://portal.gdc.cancer.gov/cases/807cc7d2-6e3b-4f2d-9531-0da994eeeada | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/a897e18d-5dd8-4881-b887-da06dbd632fc | chr12:132657330-132657530 |
ATRX | 546 | NM_000489.6:c.663-2A>G | CA413720961 | Intron inclusion between exons 8 & 9 | TCGA-DU-8166-01A | https://portal.gdc.cancer.gov/cases/e488f613-f155-4e11-87d4-8c789ea81691 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/6bf17dec-b4e4-4860-bf02-217678780afc | chrX:77684495-77684695 |
ATRX | 546 | NM_000489.6:c.4317+1G>A | CA413709172 | Intron inclusion between exons 14 & 15 | TCGA-DX-A8BT-01A | https://portal.gdc.cancer.gov/cases/eea7d707-aeb9-4d00-ab5e-c1ea608517e9 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/ba2032d1-559f-492e-8d8c-0ba8b23eac54 | chrX:77653997-77654197 |
KMT2D | 8085 | NM_003482.4:c.5645-1G>A | CA384629466 | Intron inclusion between exons 25 & 26 | TCGA-4Z-AA80-01A | https://portal.gdc.cancer.gov/cases/5df620fa-44d9-4361-91d0-f242e3e5e595 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/f0623198-14d3-462f-99fe-9ea957ce5a6f | chr12:49042779-49042979 |
CYLD | 1540 | NM_015247.3:c.2686+1G>A | CA395882698 | Intron inclusion between exons 19 & 20 | TCGA-VQ-A8P2-01A | https://portal.gdc.cancer.gov/cases/a0d35a25-3500-46f3-874f-1a0820200473 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/02d4952f-6311-463f-8e8e-b32541b4e5b6 | chr16:50794329-50794529 |
SUFU | 51684 | NM_016169.4:c.1366-1G>A | CA377920366 | Intron inclusion between exons 11 & 12 | TCGA-CG-5721-01A | https://portal.gdc.cancer.gov/cases/588abaea-ab16-42f4-9457-5901ee791b5f | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/7beed40c-eb30-4544-8c08-685099bd746e | chr10:102629965-102630165 |
DNMT3A | 1788 | NM_022552.5:c.1851+2T>C | CA1555858 | Intron inclusion between exons 15 & 16 | TCGA-AB-2891-03A | https://portal.gdc.cancer.gov/cases/79378590-e28e-403b-bbde-c76c0195a980 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/e73ea261-0449-4634-aafa-b4b498cc1e11 | chr2:25244053-25244253 |
FANCA | 2175 | NM_000135.4:c.3828+2T>A | CA397485122 | Intron inclusion between exons 38 & 39 | TCGA-CQ-A4CI-01A | https://portal.gdc.cancer.gov/cases/26cb1330-ce48-4006-8155-f6d52d3ab9b6 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/dfb273a2-bf3a-4d96-a8c3-424986d70313 | chr16:89740702-89740902 |
WT1 | 7490 | NM_024426.6:c.887+2T>C | CA379962760 | Intron inclusion between exons 3 & 4 | TCGA-DD-AAVV-01A | https://portal.gdc.cancer.gov/cases/915f531b-8448-41c7-9dfb-9c83062b906e | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/366a2e5a-4f1d-4014-b3e5-047c428a215e | chr11:32427854-32428054 |
ARID1B | 57492 | NM_020732.3:c.4894+1G>T | CA366243331 | Intron inclusion between exons 18 & 19 | TCGA-85-A4CL-01A | https://portal.gdc.cancer.gov/cases/86958f1d-f10b-403e-b204-061e1932a793 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/f3b8da21-810a-40e3-9b6d-879c8b4a3f20 | chr6:157201389-157201589 |
PIK3R1 | 5295 | NM_181523.3:c.1425+1G>A | CA16042620 | Intron inclusion between exons 11 & 12 | TCGA-D7-8572-01A | https://portal.gdc.cancer.gov/cases/8097fddc-c7b9-4192-89d7-6bcceb7465b5 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/b40c1a81-1650-4a98-a97d-fafdfb4f2306 | chr5:68293735-68293935 |
KMT2D | 8085 | NM_003482.4:c.5783-1G>C | CA384628522 | Intron inclusion between exons 26 & 27 | TCGA-4Z-AA80-01A | https://portal.gdc.cancer.gov/cases/5df620fa-44d9-4361-91d0-f242e3e5e595 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/f0623198-14d3-462f-99fe-9ea957ce5a6f | chr12:49042546-49042746 |
SDHA | 6389 | NM_004168.4:c.1064+1G>A | CA359013037 | Intron inclusion between exons 8 & 9 | TCGA-W3-A828-06A | https://portal.gdc.cancer.gov/cases/ba207d79-91c0-45dc-a784-4bcaec580eb4 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/d118061a-1667-4112-87cf-74f2dda24931 | chr5:233546-233746 |
TP53BP1 | 7158 | NM_001141980.3:c.5306-2A>G | CA392147617 | Intron inclusion between exons 24 & 25 | TCGA-D7-6525-01A | https://portal.gdc.cancer.gov/cases/82f9a197-040d-4c5e-89d9-d87a7aa0168d | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/7326f7ff-a4d7-4c56-869c-66478a36f2c0 | chr15:43409643-43409843 |
KDM6A | 7403 | NM_001291415.2:c.4332+1G>C | CA412777765 | Intron inclusion between exons 29 & 30 | TCGA-AR-A24Q-01A | https://portal.gdc.cancer.gov/cases/28e9048a-e540-42de-a1f4-4ef894fccc4c | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/59d2c6a3-6ccf-410b-b8b0-ea26f9d7bf50 | chrX:45110150-45110350 |
ATRX | 546 | NM_000489.6:c.4700-1G>C | CA413705515 | Intron inclusion between exons 16 & 17 | TCGA-HT-8563-01A | https://portal.gdc.cancer.gov/cases/dd7b23a7-b41b-4670-9fc8-78895fb00cff | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/69a7a164-d512-4e25-9411-8b9df590b2a5 | chrX:77634604-77634804 |
KMT2D | 8085 | NM_003482.4:c.14383-1G>A | CA384695526 | Intron inclusion between exons 45 & 46 | TCGA-Q1-A73O-01A | https://portal.gdc.cancer.gov/cases/d0cbe668-5c95-4261-a1e8-cef55093a0f7 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/b5085263-246c-44bf-b4af-da1f58a9d747 | chr12:49028042-49028242 |
CREBBP | 1387 | NM_004380.3:c.4395-2A>T | CA394564056 | Intron inclusion between exons 26 & 27 | TCGA-85-8276-01A | https://portal.gdc.cancer.gov/cases/aef2cf2f-2067-4d77-9bbe-0f6801826c31 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/ca5a56cc-64e0-4b52-aec7-18d35e4f8b42 | chr16:3736717-3736917 |
SMAD4 | 4089 | NM_005359.6:c.1447+2T>C | CA16616086 | Intron inclusion between exons 11 & 12 | TCGA-56-8201-01A | https://portal.gdc.cancer.gov/cases/2f39441b-e69f-488c-b5d0-cbd88447ad60 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/a27e4176-476e-42e7-a56a-afcad0dc0dee | chr18:51076678-51076878 |
KDM6A | 7403 | NM_001291415.2:c.4035-1G>A | CA412774219 | Intron inclusion between exons 27 & 28 | TCGA-GD-A2C5-01A | https://portal.gdc.cancer.gov/cases/5d54c742-5a8e-4c40-8d62-95e75e210ab8 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/ebc1f1c7-effa-418f-8e3f-ed27899204c8 | chrX:45107309-45107509 |
BRIP1 | 83990 | NM_032043.3:c.379+2T>G | CA400485254 | Intron inclusion between exons 4 & 5 | TCGA-FU-A3HZ-01A | https://portal.gdc.cancer.gov/cases/6ff12a54-10da-4941-bfea-7b66e19b4be9 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/8ff6dc4f-957a-47e0-bda6-e16ddb0e74ae | chr17:61856956-61857156 |
MEN1 | 4221 | NM_001370259.2:c.784-1G>T | CA381184024 | Intron inclusion between exons 4 & 5 | TCGA-OR-A5JA-01A | https://portal.gdc.cancer.gov/cases/48402d61-3a6b-4603-bfa0-b1a38a47d34d | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/afe378f3-268d-4924-957b-43d052a0ad71 | chr11:64807120-64807320 |
RAD51B | 5890 | NM_133510.4:c.452+2T>C | CA390170639 | Intron inclusion between exons 5 & 6 | TCGA-NC-A5HR-01A | https://portal.gdc.cancer.gov/cases/169b32f1-4371-464c-ac94-22b7d7389403 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/4bb0e99f-99a0-4791-a988-f5f7b2d24fb7 | chr14:67865041-67865241 |
DNMT3A | 1788 | NM_022552.5:c.2478+2T>G | CA346068876 | Intron inclusion between exons 21 & 22 | TCGA-AB-2898-03A | https://portal.gdc.cancer.gov/cases/a85837e6-f98d-4a80-b7c1-49b0a6313dd7 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/2f8f097f-24bc-438a-8db5-388ff3766691 | chr2:25236834-25237034 |
PTCH1 | 5727 | NM_000264.5:c.2703+1G>C | CA374113274 | Intron inclusion between exons 16 & 17 | TCGA-K1-A6RV-01A | https://portal.gdc.cancer.gov/cases/78c0d30c-0905-49de-be7f-afc1337f59b7 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/680c599e-09d7-4320-afbb-3fe22440947e | chr9:95461755-95461955 |
ERCC2 | 2068 | NM_000400.4:c.1758+1G>A | CA9513120 | Intron inclusion between exons 18 & 19 | TCGA-OL-A66J-01A | https://portal.gdc.cancer.gov/cases/96e1fc6d-693f-4f4f-b5f7-8d6e1c6c43f8 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/910713c6-ba91-4e16-973c-9f4b4717f275 | chr19:45353141-45353341 |
KLF6 | 1316 | NM_001300.6:c.103-1G>C | CA375870696 | Intron inclusion between exons 1 & 2 | TCGA-KQ-A41P-01A | https://portal.gdc.cancer.gov/cases/d7af7e2c-f742-46ed-814b-1967d7e8c2d2 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/f6ff2293-b8e4-4004-adaf-5850b9c99e84 | chr10:3782115-3782315 |
EP300 | 2033 | NM_001429.4:c.1528+2T>C | CA411686319 | Intron inclusion between exons 6 & 7 | TCGA-BR-4256-01A | https://portal.gdc.cancer.gov/cases/7b0d69ca-13a6-46e0-839c-e433bbede3ad | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/38d9fd01-d1e8-4891-be59-ca711e159e65 | chr22:41131535-41131735 |
CDH1 | 999 | NM_004360.5:c.688-2A>G | CA396458344 | Intron inclusion between exons 5 & 6 | TCGA-A2-A0EW-01A | https://portal.gdc.cancer.gov/cases/8d5fe6e8-d2cc-481f-a6a1-9cb6e7982cde | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/58a7bbc6-0897-4947-aace-abe8310fa5f6 | chr16:68810095-68810295 |
CREBBP | 1387 | NM_004380.3:c.4134-1G>A | CA394565005 | Intron inclusion between exons 24 & 25 | TCGA-CI-6620-01A | https://portal.gdc.cancer.gov/cases/b26143d3-d458-4d5c-8446-fd2f05707352 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/46be22dd-6f82-47f1-b719-495d193e8cf7 | chr16:3739625-3739825 |
SMAD4 | 4089 | NM_005359.6:c.1447+1G>C | CA402465397 | Intron inclusion between exons 11 & 12 | TCGA-DM-A1D9-01A | https://portal.gdc.cancer.gov/cases/e3b6018c-ab2c-47c5-b183-a295d0110835 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/3349f7a3-f2c1-4b9b-bc54-6a31077cb69d | chr18:51076677-51076877 |
KDM6A | 7403 | NM_001291415.2:c.3095-1G>C | CA412800622 | Intron inclusion between exons 20 & 21 | TCGA-CV-6935-01A | https://portal.gdc.cancer.gov/cases/0871333c-1088-4af1-a365-12256643c5bd | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/e707e469-7b99-4c86-a2df-0a15cd1ca1b4 | chrX:45079045-45079245 |
KMT2C | 58508 | NM_170606.3:c.11812+1G>A | CA370097867 | Intron inclusion between exons 45 & 46 | TCGA-UZ-A9Q1-01A | https://portal.gdc.cancer.gov/cases/0b83c47f-246c-4af1-b4c0-2b880edbf2d4 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/46b5e5fc-ae58-44cd-bc5c-13a5c9446a2a | chr7:152156104-152156304 |
FAS | 355 | NM_000043.6:c.444-1G>C | CA377508901 | Intron inclusion between exons 4 & 5 | TCGA-T2-A6X2-01A | https://portal.gdc.cancer.gov/cases/731f6967-5a01-40b7-9f88-64d980214bb2 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/8510b7c8-686c-4ea2-b0c9-5b00f77f0812 | chr10:89010438-89010638 |
HPS4 | 89781 | NM_022081.6:c.502-1G>A | CA411030575 | Intron inclusion between exons 6 & 7 | TCGA-D3-A1QA-07A | https://portal.gdc.cancer.gov/cases/fbee9fe7-8bed-41a6-bcfe-de9f1bc80d01 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/441a4167-3a1d-4722-aabb-78ebaffe464c | chr22:26470714-26470914 |
CC2D1A | 54862 | NM_017721.5:c.2125+1G>T | CA404395415 | Intron inclusion between exons 20 & 21 | TCGA-DM-A1D9-01A | https://portal.gdc.cancer.gov/cases/e3b6018c-ab2c-47c5-b183-a295d0110835 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/3349f7a3-f2c1-4b9b-bc54-6a31077cb69d | chr19:13926773-13926973 |
GPSM2 | 29899 | NM_013296.5:c.1815+2T>C | CA341451957 | Intron inclusion between exons 14 & 15 | TCGA-D8-A1XK-01A | https://portal.gdc.cancer.gov/cases/97943d87-fed7-4f14-a0a7-c5bfee64c392 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/f734fdc8-6dc1-4525-9d51-94afeffc5462 | chr1:108924116-108924316 |
TNNT1 | 7138 | NM_003283.6:c.388-1G>A | CA407434160 | Intron inclusion between exons 9 & 10 | TCGA-DA-A95Z-06A | https://portal.gdc.cancer.gov/cases/668701cf-9c73-4caf-8482-3f478235909a | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/d2cb39ac-c6fe-4455-b287-da2d7d52ca54 | chr19:55137975-55138175 |
BCAT2 | 587 | NM_001190.4:c.531+1G>A | CA406725165 | Intron inclusion between exons 5 & 6 | TCGA-XK-AAIW-01A | https://portal.gdc.cancer.gov/cases/2270d09e-a8be-4b7d-9520-a4bb1cd053c0 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/26ee7d41-63b4-40a5-a636-5384bb909d4c | chr19:48799880-48800080 |
CLPP | 8192 | NM_006012.4:c.556-2A>T | CA403590073 | Intron inclusion between exons 4 & 5 | TCGA-GN-A268-06A | https://portal.gdc.cancer.gov/cases/c6be76d4-a1ba-4dd6-84bf-3b30cabe144e | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/ee0f1dd6-01b5-4602-b1ad-1f943d3bb74c | chr19:6366156-6366356 |
GAA | 2548 | NM_000152.5:c.1754+2T>G | CA401369204 | Intron inclusion between exons 12 & 13 | TCGA-SX-A71W-01A | https://portal.gdc.cancer.gov/cases/68642658-7996-4423-bb25-d3beb9a414f1 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/3e971135-419a-4453-a349-00a788702f98 | chr17:80112002-80112202 |
ACADVL | 37 | NM_000018.4:c.343-1G>A | CA312290 | Intron inclusion between exons 5 & 6 | TCGA-04-1341-01A | https://portal.gdc.cancer.gov/cases/92badeb5-a50e-4a62-a67e-6a8a59c948ab | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/4996011e-ed45-4acb-af55-05ff8d792394 | chr17:7220823-7221023 |
ECHS1 | 1892 | NM_004092.4:c.515-1G>T | CA378819706 | Intron inclusion between exons 4 & 5 | TCGA-86-8281-01A | https://portal.gdc.cancer.gov/cases/5d7ec32a-049f-4997-9882-1b3ac157e02d | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/4ea72757-c15b-4c9d-9279-35fe484ad03d | chr10:133366894-133367094 |
GSS | 2937 | NM_000178.4:c.1302-1G>A | CA408700085 | Intron inclusion between exons 12 & 13 | TCGA-EE-A2GI-06A | https://portal.gdc.cancer.gov/cases/b4079a49-bb11-430a-9a1e-19bd46d87fbe | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/87dc47b3-200b-4d90-98b2-4ee9019d2563 | chr20:34928852-34929052 |
ACADVL | 37 | NM_000018.4:c.277+2T>C | CA397722483 | Intron inclusion between exons 4 & 5 | TCGA-G4-6586-01A | https://portal.gdc.cancer.gov/cases/7570761b-c333-40df-ac8c-9b7f94c58ef9 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/b45f2a68-58fb-4b06-a48d-230501e040af | chr17:7220578-7220778 |
INPP5E | 56623 | NM_019892.6:c.1665+1G>A | CA375561522 | Intron inclusion between exons 8 & 9 | TCGA-VQ-A8P2-01A | https://portal.gdc.cancer.gov/cases/a0d35a25-3500-46f3-874f-1a0820200473 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/02d4952f-6311-463f-8e8e-b32541b4e5b6 | chr9:136430901-136431101 |
TTC21B | 79809 | NM_024753.5:c.3805+2T>A | CA349045620 | Intron inclusion between exons 27 & 28 | TCGA-UZ-A9PX-01A | https://portal.gdc.cancer.gov/cases/f085f014-2690-4ff0-910a-89176c78cfc9 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/fe5ca030-50c0-4690-834a-882647ba9f8b | chr2:165880577-165880777 |
VPS13B | 157680 | NM_152564.5:c.1651+1G>A | CA4822695 | Intron inclusion between exons 12 & 13 | TCGA-EO-A22X-01A | https://portal.gdc.cancer.gov/cases/10eb7dfa-d43d-479f-8c46-c0424207f958 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/cd872045-615d-4008-affd-2be9124383f7 | chr8:99136653-99136853 |
DNAJC19 | 131118 | NM_145261.4:c.129+1G>A | CA89106660 | Intron inclusion between exons 3 & 4 | TCGA-L5-A43J-01A | https://portal.gdc.cancer.gov/cases/209e2e16-cb88-4a8f-9cdb-10e152caa26c | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/dc94e446-e7dc-4da9-89fb-ac18d4d2839a | chr3:180987922-180988122 |
USH1C | 10083 | NM_153676.4:c.819+2T>G | CA379789318 | Intron inclusion between exons 10 & 11 | TCGA-B0-5695-01A | https://portal.gdc.cancer.gov/cases/fb9bafa5-7133-4955-8156-4eb6763dc8e1 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/2092966e-5353-40ab-9da5-b638e7a29fbd | chr11:17523317-17523517 |
NBEAL2 | 23218 | NM_015175.3:c.4485-1G>T | CA2361263 | Intron inclusion between exons 28 & 29 | TCGA-IB-7651-01A | https://portal.gdc.cancer.gov/cases/3559f697-8fec-4f36-962c-632272fe9c9c | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/42e3cbc4-4cab-4dc1-87b4-97c2cdbce271 | chr3:47001178-47001378 |
NDUFS2 | 4720 | NM_004550.4:c.96-2A>G | CA343376749 | Intron inclusion between exons 2 & 3 | TCGA-A6-6781-01A | https://portal.gdc.cancer.gov/cases/b54865b6-824e-4163-b759-21a6eacc98ce | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/853f586e-17f5-414c-af01-c9586e551d4d | chr1:161203335-161203535 |
ACADM | 34 | NM_000016.6:c.119-2A>G | CA340809054 | Intron inclusion between exons 2 & 3 | TCGA-94-8491-01A | https://portal.gdc.cancer.gov/cases/aeb67cc2-1573-4782-a6f8-baef7c2c5c47 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/9f9c0a94-000a-4153-a972-359b163c1ec9 | chr1:75732542-75732742 |
CC2D1A | 54862 | NM_017721.5:c.2074-1G>T | CA404394847 | Intron inclusion between exons 19 & 20 | TCGA-HF-7132-01A | https://portal.gdc.cancer.gov/cases/6c3687fd-0761-477d-95ab-73e11d66dbd6 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/37318241-0375-4608-9580-cb0ba21c07e1 | chr19:13926720-13926920 |
VPS33B | 26276 | NM_018668.5:c.1658-1G>T | CA393884838 | Intron inclusion between exons 21 & 22 | TCGA-B5-A0JR-01A | https://portal.gdc.cancer.gov/cases/a766d113-bc3f-4448-a4e5-f391fb0c0e22 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/ae20dc4c-7496-4921-8366-7fc996ce02f2 | chr15:90999694-90999894 |
DLD | 1738 | NM_000108.5:c.1236+1G>A | CA368858670 | Intron inclusion between exons 11 & 12 | TCGA-KB-A93G-01A | https://portal.gdc.cancer.gov/cases/e52396d1-acd6-44f4-99c5-1a367128008d | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/c390855f-7343-468d-b584-73002408d207 | chr7:107917363-107917563 |
HADHA | 3030 | NM_000182.5:c.677-1G>A | CA346091704 | Intron inclusion between exons 7 & 8 | TCGA-CN-6023-01A | https://portal.gdc.cancer.gov/cases/69efde94-a9f9-49ff-9c82-028c35940eda | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/69f92cd7-3f01-46e8-8cf2-dfac09768171 | chr2:26215076-26215276 |
HEXA | 3073 | NM_000520.6:c.412+1G>T | CA393066579 | Intron inclusion between exons 3 & 4 | TCGA-UF-A71E-01A | https://portal.gdc.cancer.gov/cases/119ea204-792b-49ec-8fd4-eb88c4f91042 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/d2cb6001-a662-4eee-ae90-522bf60d801c | chr15:72355458-72355658 |
NDUFS4 | 4724 | NM_002495.4:c.350+1G>A | CA359719915 | Intron inclusion between exons 3 & 4 | TCGA-AZ-6598-01A | https://portal.gdc.cancer.gov/cases/a8b4284d-cbbb-43e3-897b-d04af4bfba74 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/73f91a0c-fe24-466a-8ef8-9b156863343f | chr5:53646306-53646506 |
CSPP1 | 79848 | NM_024790.6:c.3455-2A>G | CA371203855 | Intron inclusion between exons 28 & 29 | TCGA-BP-5202-01A | https://portal.gdc.cancer.gov/cases/b6d4e2d5-5739-4be3-8a4c-6e7a17d1d40f | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/2fb7233c-7a54-4783-a4ae-c8e7c09081fe | chr8:67195280-67195480 |
MTHFR | 4524 | NM_005957.5:c.236+1G>A | CA16044134 | Intron inclusion between exons 2 & 3 | TCGA-B8-A54K-01A | https://portal.gdc.cancer.gov/cases/a2663a86-a006-4867-9e88-2b523df48303 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/1739c1b0-b60b-4b48-8bb7-74a9bd220624 | chr1:11802780-11802980 |
BCKDK | 10295 | NM_005881.4:c.424-1G>T | CA395657630 | Intron inclusion between exons 5 & 6 | TCGA-5P-A9JU-01A-11R | https://portal.gdc.cancer.gov/cases/295004c6-d52e-4971-82ff-84595850f548 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/310c6db3-e0f7-44a7-b1da-31cc8083b10d | chr16:31110104-31110304 |
ACADVL | 39 | NM_000018.3:c.1270-1G>A | CA397724740 | Intron inclusion between exons 12 & 13 | TCGA-CR-7368-01A | https://portal.gdc.cancer.gov/cases/27c28c89-f4e7-4aec-a806-c0da7756e47f | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/34bb8e2f-7577-461c-92a1-af9eca07d55a | chr17:7223712-7223912 |
LPIN1 | 23175 | NM_001349206.2:c.1714-1G>T | CA345850009 | Intron inclusion between exons 12 & 13 | TCGA-EI-6882-01A | https://portal.gdc.cancer.gov/cases/e3a80e41-2e46-4b04-86c6-fd444d616ab5 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/5e9ae2d1-948b-40e1-b085-2117ebd239c1 | chr2:11791813-11792013 |
ASS1 | 445 | NM_054012.4:c.175-1G>T | CA375224765 | Intron inclusion between exons 3 & 4 | TCGA-39-5040-01A | https://portal.gdc.cancer.gov/cases/eca4bfa2-5ba5-4708-959a-d901c1b61edd | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/7c3abe45-1292-44c7-9b24-eae3414abda4 | chr9:130458300-130458500 |
MMAB | 326625 | NM_052845.4:c.290+2T>C | CA386639400 | Intron inclusion between exons 3 & 4 | TCGA-HF-7132-01A | https://portal.gdc.cancer.gov/cases/6c3687fd-0761-477d-95ab-73e11d66dbd6 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/37318241-0375-4608-9580-cb0ba21c07e1 | chr12:109568668-109568868 |
WDR62 | 284403 | NM_001083961.2:c.2034+1G>A | CA405442267 | Intron inclusion between exons 16 & 17 | TCGA-P6-A5OG-01A | https://portal.gdc.cancer.gov/cases/0824b246-9fa2-4a8b-ad4c-1ffc7731bf7d | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/0aed7635-efac-4426-8b27-04dc2a0b88ee | chr19:36090421-36090621 |
DHTKD1 | 55526 | NM_018706.7:c.987+1G>T | CA376018924 | Intron inclusion between exons 5 & 6 | TCGA-95-7567-01A | https://portal.gdc.cancer.gov/cases/3bc7026f-73f2-418b-bd62-f4768582b790 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/fd97c225-cc46-47cf-9f5c-f92d14dc3fcf | chr10:12089156-12089356 |
TTC21B | 79809 | NM_024753.5:c.894+1G>A | CA349048604 | Intron inclusion between exons 8 & 9 | TCGA-44-8120-01A | https://portal.gdc.cancer.gov/cases/83e38dbd-edab-47f2-b19f-6ea38fc6bece | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/98a3ce8c-390c-4b97-ad78-75df8ba027ad | chr2:165931657-165931857 |
DNAH5 | 1767 | NM_001369.3:c.6579+2T>C | CA359197017 | Intron inclusion between exons 39 & 40 | TCGA-XK-AAIW-01A | https://portal.gdc.cancer.gov/cases/2270d09e-a8be-4b7d-9520-a4bb1cd053c0 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/26ee7d41-63b4-40a5-a636-5384bb909d4c | chr5:13824097-13824297 |
MCCC2 | 64087 | NM_022132.5:c.804-1G>C | CA359986017 | Intron inclusion between exons 8 & 9 | TCGA-AA-3685-01A | https://portal.gdc.cancer.gov/cases/dca004bf-9c14-45a1-b186-ab3759f6c7fe | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/4ff4eaf5-8ce6-433d-8443-07ebc5848ab7 | chr5:71634842-71635042 |
VPS13B | 157680 | NM_152564.5:c.7247+2T>C | CA371874664 | Intron inclusion between exons 40 & 41 | TCGA-AA-3713-01A | https://portal.gdc.cancer.gov/cases/57a2044d-20cc-4d02-b268-ce570a0fabe3 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/20590d52-b942-4ab4-b86d-00a5068438e1 | chr8:99766872-99767072 |
POMT1 | 10585 | NM_001077365.2:c.1082+2T>C | CA375308966 | Intron inclusion between exons 11 & 12 | TCGA-VQ-A8PP-01A | https://portal.gdc.cancer.gov/cases/e181474c-1585-4aed-ba90-bae5324569d5 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/901526f6-a982-49b0-8075-e57311a3bb8c | chr9:131512038-131512238 |
ECHS1 | 1892 | NM_004092.4:c.287-2A>G | CA378822093 | Intron inclusion between exons 2 & 3 | TCGA-52-7811-01A | https://portal.gdc.cancer.gov/cases/0f5cebb3-a37b-471f-bbd3-b03ce171812a | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/62f01f8e-5497-41b0-ab7a-1be37040d80d | chr10:133369933-133370133 |
TTC7A | 57217 | NM_020458.4:c.518-2A>T | CA346722756 | Intron inclusion between exons 3 & 4 | TCGA-56-8307-01A | https://portal.gdc.cancer.gov/cases/b9817e22-ec5f-4a66-bf24-0f9fd9d3231e | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/08698df7-a159-4217-906c-ea528c75bf1b | chr2:46974871-46975071 |
CPT1A | 1374 | NM_001876.4:c.2236-1G>T | CA381624957 | Intron inclusion between exons 18 & 19 | TCGA-HF-7132-01A | https://portal.gdc.cancer.gov/cases/6c3687fd-0761-477d-95ab-73e11d66dbd6 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/37318241-0375-4608-9580-cb0ba21c07e1 | chr11:68757631-68757831 |
CSPP1 | 79848 | NM_024790.6:c.1683-2A>G | CA371203404 | Intron inclusion between exons 13 & 14 | TCGA-L5-A8NW-01A | https://portal.gdc.cancer.gov/cases/d30ab67a-a40c-49b4-8fbc-d7dd5442277d | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/ebcd0e08-410b-485f-847f-8762e76309f3 | chr8:67131849-67132049 |
PNKP | 11284 | NM_007254.4:c.637-1G>T | CA406886505 | Intron inclusion between exons 6 & 7 | TCGA-EB-A550-01A | https://portal.gdc.cancer.gov/cases/c757c326-6803-4451-a2d3-4368812855a7 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/bc5b54c5-ec74-418e-82ea-d19710c4ccfc | chr19:49863972-49864172 |
DNAH5 | 1767 | NM_001369.3:c.8448+1G>A | CA359218685 | Intron inclusion between exons 50 & 51 | TCGA-EO-A3KX-01A | https://portal.gdc.cancer.gov/cases/fe2e89f7-8f4d-420a-a551-4877cf0fd1d3 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/516f801d-92b1-4b27-a709-56c0d1809618 | chr5:13791893-13792093 |
SERPINB6 | 5269 | NM_004568.6:c.730-1G>T | CA362580253 | Intron inclusion between exons 6 & 7 | TCGA-AA-3713-01A | https://portal.gdc.cancer.gov/cases/57a2044d-20cc-4d02-b268-ce570a0fabe3 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/20590d52-b942-4ab4-b86d-00a5068438e1 | chr6:2948600-2948800 |
ABCC4 | 10257 | NM_005845.5:c.2034+1G>T | CA388398781 | Intron inclusion between exons 15 & 16 | TCGA-55-A4DG-01A | https://portal.gdc.cancer.gov/cases/3e34c7d9-90fa-41e2-ba6b-4bbc332adc4e | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/6979c494-8d2b-4279-bcdc-125001241a1f | chr13:95166057-95166257 |
KYNU | 8942 | NM_003937.3:c.374-2A>G | CA57515842 | Intron inclusion between exons 4 & 5 | TCGA-CR-7371-01A | https://portal.gdc.cancer.gov/cases/f8acc36b-1e7f-44b8-83b7-f894ad201833 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/f8f7f96f-622b-45e1-99f6-e6876771da61 | chr2:142954708-142954908 |
LAMB1 | 3912 | NM_002291.3:c.4746-2A>C | CA368862349 | Intron inclusion between exons 30 & 31 | TCGA-2H-A9GN-01A | https://portal.gdc.cancer.gov/cases/078dc5f1-d2dc-4408-b785-27703c7813f1 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/c165f4c0-36a9-4bcc-927b-6937ce7070f3 | chr7:107929107-107929307 |
EPS8L2 | 64787 | NM_022772.4:c.769-2A>T | CA216939698 | Intron inclusion between exons 9 & 10 | TCGA-DD-AAW2-01A | https://portal.gdc.cancer.gov/cases/03df105e-a005-4577-bfdb-9644758d778e | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/bd21a8b1-238e-43cb-a627-51a8d0f7e599 | chr11:721463-721663 |
GLUL | 2752 | NM_001033044.4:c.329-2A>G | CA343641250 | Intron inclusion between exons 3 & 4 | TCGA-KK-A8I9-01A | https://portal.gdc.cancer.gov/cases/261c3d74-706e-4751-bd15-8f3c1a402ff0 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/fda9e016-b727-47c7-a2a6-0d4dd09d21da | chr1:182386304-182386504 |
GLUL | 2752 | NM_001033044.4:c.604-2A>G | CA343640218 | Intron inclusion between exons 5 & 6, or skipping beginning of exon 6 | TCGA-CR-7402-01A | https://portal.gdc.cancer.gov/cases/91e30123-2265-4cf1-8389-f6462897837c | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/b2d53520-da97-479d-9203-376bf46880b6 | chr1:182385458-182385658 |
MED23 | 9439 | NM_004830.4:c.3472-1G>T | CA365659049 | Intron inclusion between exons 25 & 26 | TCGA-44-2659-01A | https://portal.gdc.cancer.gov/cases/bf15f7ad-9d92-473b-91d1-f24aa373ab97 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/704d42ab-3e11-4c3b-a74c-b1e6a30e27c5 | chr6:131591428-131591628 |
MED23 | 9439 | NM_004830.4:c.2427-1G>A | CA365668344 | Intron inclusion between exons 19 & 20 | TCGA-VQ-A8PB-01A | https://portal.gdc.cancer.gov/cases/02661985-d13f-4007-9a42-5e08d1a6ca10 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/73ece30d-bc26-4900-9db2-7c47feb98116 | chr6:131598368-131598568 |
NGLY1 | 55768 | NM_018297.4:c.659-1G>A | CA351904711 | Intron inclusion between exons 4 & 5 | TCGA-2W-A8YY-01A | https://portal.gdc.cancer.gov/cases/5aeac31a-176a-4f93-a376-a93a670821bb | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/b0d5caf5-b49d-444d-a79b-d7d159129567 | chr3:25739700-25739900 |
PRKDC | 5591 | NM_006904.7:c.10458+2T>C | CA371134752 | Intron inclusion between exons 73 & 74 | TCGA-W5-AA2Z-01A | https://portal.gdc.cancer.gov/cases/20ec1cd9-7bdb-4eb9-9d20-65795580f1f5 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/b3121dba-9901-496e-8b65-492b58c677c2 | chr8:47798135-47798335 |
ETFDH | 2110 | NM_004453.4:c.684+1G>T | CA358560066 | Intron inclusion between exons 6 & 7 | TCGA-ZQ-A9CR-01A | https://portal.gdc.cancer.gov/cases/f76122f7-343a-4345-9fb6-e46ad0b75cb0 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/6cbba8b5-f988-442f-b5d9-e02cbe70459e | chr4:158690326-158690526 |
POMGNT1 | 55624 | NM_017739.4:c.354+1G>A | CA16040755 | Intron inclusion between exons 4 & 5 | TCGA-44-7660-01A | https://portal.gdc.cancer.gov/cases/a534b96b-1665-444a-9308-e610f2f0e510 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/d6140094-7640-48e5-8d0b-1622593cbbd8 | chr1:46196630-46196830 |
ADA | 100 | NM_000022.4:c.679-1G>A | CA409120361 | Intron inclusion between exons 7 & 8 | TCGA-EE-A2MC-06A | https://portal.gdc.cancer.gov/cases/3791bd88-c61e-46c3-aaa4-942c2169887c | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/76becbfe-b62a-409c-9a73-5a8b275920bd | chr20:44622831-44623031 |
POLH | 5429 | NM_006502.3:c.1244+1G>T | CA364262449 | Intron inclusion between exons 10 & 11 | TCGA-A2-A04R-01A | https://portal.gdc.cancer.gov/cases/f3a058b9-fb7f-4098-8f0e-83c2acfa1ed5 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/e83d3101-df1c-4f2a-accc-b35a94c5d42d | chr6:43610624-43610824 |
SLC1A4 | 6509 | NM_003038.5:c.1034+2T>C | CA347008975 | Intron inclusion between exons 5 & 6 | TCGA-AN-A0XP-01A | https://portal.gdc.cancer.gov/cases/cf0e7e4e-b857-4db5-9ae2-551a899f77be | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/0cf02279-9709-4ebb-a908-eb6f486fd486 | chr2:65016575-65016775 |
FNIP1 | 96459 | NM_133372.3:c.3423-1G>T | CA360794924 | Intron inclusion between exons 17 & 18 | TCGA-G2-A2ES-01A | https://portal.gdc.cancer.gov/cases/72d8eae8-9efb-45b2-acbd-82c6b5732e38 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/7013e919-da01-45e3-8c2b-bef2bff71b31 | chr5:131644664-131644864 |
LRPPRC | 10128 | NM_133259.4:c.2505-1G>T | CA346671864 | Intron inclusion between exons 23 & 24 | TCGA-CV-6948-01A | https://portal.gdc.cancer.gov/cases/fcf0dc48-b889-4593-a15b-aa715aae7bf5 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/7c301f2d-98c7-4b1b-812b-5f95ced21db8 | chr2:43934779-43934979 |
ACOX1 | 51 | NM_004035.7:c.1728+2T>G | CA401059684 | Intron inclusion between exons 12 & 13 | TCGA-AZ-6607-01A | https://portal.gdc.cancer.gov/cases/64dcf1a5-c78c-4d3f-852c-15865b3b6189 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/7b1f19e0-6ff0-402b-ad40-44c2fc44ef13 | chr17:75949115-75949315 |
HEXA | 3073 | NM_000520.6:c.1073+1G>A | CA221064 | Intron inclusion between exons 9 & 10 | TCGA-J8-A3O0-01A | https://portal.gdc.cancer.gov/cases/5832c002-e5a4-45bc-b8f9-dbb841fd22f3 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/e70661f6-5e05-4d39-ac51-d6a2739e268c | chr15:72347947-72348147 |
PEX6 | 5190 | NM_000287.4:c.2667-1G>T | CA364150525 | Intron inclusion between exons 15 & 16 | TCGA-BK-A6W3-01A | https://portal.gdc.cancer.gov/cases/119b1761-a5b4-42b6-9971-ece11fb0e0f6 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/847cbc2c-79af-4798-bc70-da6f0e42ed7d | chr6:42964830-42965030 |
AHI1 | 54806 | NM_001134831.2:c.1441-1G>C | CA365745709 | Intron inclusion between exons 11 & 12 | TCGA-JW-A5VL-01A | https://portal.gdc.cancer.gov/cases/d1a5b028-ec79-456b-81a1-69838e2922df | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/5b5c592a-e2e0-4862-8c41-6fd6d1f7d6cf | chr6:135448376-135448576 |
ABCC4 | 10257 | NM_005845.5:c.3735+2T>C | CA388397283 | Intron inclusion between exons 29 & 30 | TCGA-06-5416-01A | https://portal.gdc.cancer.gov/cases/3a3fc890-1985-4353-861b-dc3abfb364b1 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/29037dc4-36ea-46de-96a1-d564ea4c77ff | chr13:95043580-95043780 |
MED23 | 9439 | NM_004830.4:c.2779-1G>C | CA365664888 | Intron inclusion between exons 21 & 22 | TCGA-24-1423-01A | https://portal.gdc.cancer.gov/cases/f64ebc7f-0e5a-42b4-af57-6cdb90d24f90 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/9fe39646-e51a-4490-a805-add2c4dd90e4 | chr6:131596064-131596264 |
LARS2 | 23395 | NM_015340.4:c.1761-2A>C | CA352427214 | Intron inclusion between exons 15 & 16 | TCGA-BR-8372-01A | https://portal.gdc.cancer.gov/cases/5b52f882-df12-42ec-a000-ff3b428ba05b | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/76e5c2ff-f7f7-437f-b76f-68c28c29e0cf | chr3:45513033-45513233 |
ACADM | 34 | NM_000016.6:c.388-2A>G | CA340812778 | Intron inclusion between exons 5 & 6 | TCGA-HJ-7597-01A | https://portal.gdc.cancer.gov/cases/83d681f4-6c0e-45cc-a31d-0b1b31c8e073 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/1757cc62-53b9-4f32-af19-94343745f8ef | chr1:75734689-75734889 |
PLG | 5340 | NM_000301.5:c.1801A>C | CA453029002 | Intron inclusion between exons 14 & 15 | TCGA-G3-A3CG-01A | https://portal.gdc.cancer.gov/cases/8a14d153-bbf7-4512-a067-976edfb65f91 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/1de735b4-a156-4f2d-a090-b9b5f463c7a0 | chr6:160736906-160737106 |
SERPINE1 | 5054 | NM_000602.5:c.1172-3C>G | CA2573320819 | Intron inclusion between exons 8 & 9 | TCGA-T2-A6X2-01A | https://portal.gdc.cancer.gov/cases/731f6967-5a01-40b7-9f88-64d980214bb2 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/8510b7c8-686c-4ea2-b0c9-5b00f77f0812 | chr7:101137302-101137502 |
HEXA | 3073 | NM_000520.6:c.1421+5G>T | CA491115360 | Intron inclusion between exons 12 & 13 | TCGA-DF-A2KN-01A | https://portal.gdc.cancer.gov/cases/d438c58e-f038-47a3-8e62-485a5aca9695 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/adb8db81-0889-473b-81a1-6305eba86747 | chr15:72346130-72346330 |
SBF1 | 6305 | NM_002972.4:c.5583+3G>C | CA2573331822 | Intron inclusion between exons 40 & 41 | TCGA-4Z-AA81-01A | https://portal.gdc.cancer.gov/cases/35c7bb8a-7b5c-488d-9d3a-725b24d14478 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/e56274f7-6ae7-4fa3-be17-312c58ca2d91 | chr22:50447219-50447419 |
NDUFS2 | 4720 | NM_004550.4:c.1354+5G>A | CA292498 | Probable decrease in frequency of NM_004550.4 isoform | TCGA-VQ-A8P2-01A | https://portal.gdc.cancer.gov/cases/a0d35a25-3500-46f3-874f-1a0820200473 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/02d4952f-6311-463f-8e8e-b32541b4e5b6 | chr1:161213826-161214026 |
CNNM4 | 26504 | NM_020184.4:c.1680A>G | CA427517881 | Intron inclusion between exons 3 & 4 | TCGA-FP-A4BF-01A | https://portal.gdc.cancer.gov/cases/0ae2b51d-aade-4d24-8d0b-6990123d9074 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/a964e868-4571-4540-8765-b92545880b86 | chr2:96797546-96797746 |
ADAMTS13 | 11093 | NM_139027.6:c.3401-3C>A | CA2573331851 | Intron inclusion between exons 25 & 26 | TCGA-FJ-A3ZE-01A | https://portal.gdc.cancer.gov/cases/917961e2-78ad-4182-9cdb-5efb09808111 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/03ed0ccf-4abf-4e7d-8b7e-6028b07a03ac | chr9:133455966-133456166 |
RECQL4 | 9401 | NM_004260.4:c.1258+3G>C | CA2573331893 | Intron inclusion between exons 6 & 7 | TCGA-G2-A2EL-01A | https://portal.gdc.cancer.gov/cases/30c7445e-d0c4-4a0f-96a4-27e4259ee10b | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/7e32b31e-0cc2-4a07-a4b0-1c1ff6e881f1 | chr8:144515661-144515861 |
ERCC3 | 2071 | NM_000122.2:c.657+6T>C | CA536067622 | Intron inclusion between exons 5 & 6 | TCGA-VS-A9UJ-01A | https://portal.gdc.cancer.gov/cases/78c62970-4b48-4dc4-9042-5f48f42818ec | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/7f7c31d5-70c2-48e9-b4e7-0cf1f6b8b898 | chr2:127289583-127289783 |
TIMM50 | 92609 | NM_001001563.5:c.291G>A | CA405786427 | Intron inclusion between exons 3 & 4 | TCGA-BH-A1FU-01A | https://portal.gdc.cancer.gov/cases/c348a9b3-c901-4384-a222-144387bac0c5 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/76e50095-cc24-4fcd-bf67-cd3f1cdaaacc | chr19:39482816-39483016 |
MFSD8 | 256471 | NM_001371596.2:c.1350G>A | CA315945 | Intron inclusion between exons 11 & 12 | TCGA-DR-A0ZM-01A | https://portal.gdc.cancer.gov/cases/748aada0-448f-4523-9893-3d9618fdbe18 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/3540bc91-4697-40aa-b30c-de722e9bbe4b | chr4:127921424-127921624 |
SBF2 | 81846 | NM_030962.4:c.513G>A | CA473081533 | Intron inclusion between exons 5 & 6 | TCGA-5N-A9KI-01A | https://portal.gdc.cancer.gov/cases/4fece3d0-649c-4771-b9c4-a3397cea0feb | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/7e164d0d-842d-41bc-868d-7709651607e5 | chr11:10029665-10029865 |
MOGS | 7841 | NM_006302.3:c.580-3C>T | CA1261438742 | Intron inclusion between exons 2 & 3 | TCGA-AD-6889-01A | https://portal.gdc.cancer.gov/cases/955464c8-9c62-430c-87b8-107db5c980a8 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/b69c1e4a-45e1-4328-b561-0372c6759559 | chr2:74463289-74463489 |
GPT2 | 84706 | NM_133443.4:c.1213-3C>G | CA2573331979 | Intron inclusion between exons 9 & 10 | TCGA-BT-A20R-01A | https://portal.gdc.cancer.gov/cases/f8780a4b-7f55-41d1-bf92-8513955d150e | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/431b2321-540b-4624-9fe2-e58f0e9ae769 | chr16:46924286-46924486 |
SLC39A7 | 7922 | NM_006979.3:c.635-3C>A | CA1087652285 | Intron inclusion between exons 3 & 4 | TCGA-44-3918-01A | https://portal.gdc.cancer.gov/cases/6e3b6b72-142d-4b8d-a462-28a205796e41 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/b66b7858-7464-47fd-8c42-0fe2917fb6a4 | chr6:33202160-33202360 |
FAH | 2184 | NM_000137.4:c.455+5G>A | CA2573332024 | Intron inclusion between exons 5 & 6 | TCGA-DA-A95Z-06A | https://portal.gdc.cancer.gov/cases/668701cf-9c73-4caf-8482-3f478235909a | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/d2cb39ac-c6fe-4455-b287-da2d7d52ca54 | chr15:80162241-80162441 |
ABHD12 | 26090 | NM_001042472.3:c.1157+3G>C | CA2573332047 | Intron inclusion between exons 12 & 13 | TCGA-CV-7427-01A | https://portal.gdc.cancer.gov/cases/c2bbb6f9-6f88-4a58-a15a-b887dfad34b4 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/0b773f83-cf0c-4fd5-aad6-25319e9c2e8e | chr20:25302116-25302316 |
ARPC1B | 10095 | NM_005720.4:c.708-3C>T | CA4364109 | Intron inclusion between exons 6 & 7 | TCGA-AD-6895-01A | https://portal.gdc.cancer.gov/cases/4f601d7b-8db1-4c6d-9374-21dcd804980d | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/d0f82c6c-9df4-4da6-9ea4-9b0096f8b786 | chr7:99391075-99391275 |
HEXA | 3073 | NM_000520.6:c.1073+3G>C | CA2186744415 | Intron inclusion between exons 9 & 10 | TCGA-IR-A3LK-01A | https://portal.gdc.cancer.gov/cases/b79558c5-1db2-4b1e-a7b8-efbd19aa855e | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/666c9843-129c-43f2-95dc-9360422b8ad2 | chr15:72347945-72348145 |
FGD4 | 121512 | NM_001370298.3:c.501C>T | CA479213665 | Intron inclusion between exons 3 & 4 | TCGA-L5-A4OT-01A | https://portal.gdc.cancer.gov/cases/9559f579-5d9a-4c96-9836-8a039d394795 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/76ba9922-505c-4ad4-94f9-dbf6431ccef0 | chr12:32576347-32576547 |
FLAD1 | 80308 | NM_025207.5:c.1628+4A>G | CA1007966009 | Probable decrease in frequency of NM_025207.5 isoform | TCGA-B0-5098-01A | https://portal.gdc.cancer.gov/cases/3be0bc1d-d81f-4769-b650-8cc8858e45db | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/3d0720e0-adcb-458c-be22-0044b6d43fc7 | chr1:154992690-154992890 |
NDUFS2 | 4720 | NM_004550.4:c.1116G>A | CA421417318 | Intron inclusion between exons 11 & 12 | TCGA-DF-A2KU-01A | https://portal.gdc.cancer.gov/cases/95eefb47-3f96-4a6d-8773-4d22843f0a6a | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/f50ef3ff-bd07-43ef-80b7-e83330b0b9c0 | chr1:161212380-161212580 |
FLAD1 | 80308 | NM_025207.5:c.1552C>T | CA421237025 | Intron inclusion between exons 5 & 6 | TCGA-EO-A22U-01A | https://portal.gdc.cancer.gov/cases/30bc72d5-07b5-48d2-b025-bba9bcf2f09f | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/2d0c8fc2-0cd4-41a4-8f55-85aa81b11eec | chr1:154990426-154990626 |
PNKP | 11284 | NM_007254.4:c.152-8A>G | CA9587032 | Potential intron inclusion between exons 2 & 3 | TCGA-ND-A4WC-01A | https://portal.gdc.cancer.gov/cases/6385194a-d75b-4bd3-9e70-9aa36250d5b9 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/14785df9-3452-4626-9152-e0f0364b992e | chr19:49866353-49866553 |
PTEN | 5728 | NM_000314.8:c.1026G>A | CA470973807 | Intron inclusion between exons 8 & 9, and loss of exon 9 expression | TCGA-DU-A7TD-01A | https://portal.gdc.cancer.gov/cases/e349d8aa-bb82-4ce8-b14c-61216289f25b | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/e91537bb-1085-40d1-b575-e0a0964cc9e2 | chr10:87961018-87961218 |
DNMT3A | 1788 | NM_022552.5:c.1935A>T | CA425182088 | Intron inclusion between exons 16 & 17 | TCGA-ED-A8O5-01A | https://portal.gdc.cancer.gov/cases/2bea076b-c923-4a91-a37b-c6615fec021c | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/488cd67c-036c-482d-a524-f7434ca5a47a | chr2:25243799-25243999 |
TP53 | 7157 | NM_000546.6:c.375G>C | CA497926317 | Intron inclusion between exons 4 & 5 | TCGA-BH-A0BW-01A | https://portal.gdc.cancer.gov/cases/5d1d00c6-fcae-479e-ae1e-de76efd41d98 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/1a946ce5-5a48-42b3-a502-c99ab6ff4afe | chr17:7675894-7676094 |
EP300 | 2033 | NM_001429.4:c.2241G>A | CA10252784 | Intron inclusion between exons 12 & 13 | TCGA-BR-8591-01A | https://portal.gdc.cancer.gov/cases/0f3e2f16-1c06-4128-af45-ee73de19ea69 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/801caa5f-bee3-495a-97d6-a7c5fbc595de | chr22:41147846-41148046 |
ASXL1 | 171023 | NM_015338.6:c.1719G>A | CA510201294 | Intron inclusion between exons 12 & 13 | TCGA-CM-6170-01A | https://portal.gdc.cancer.gov/cases/9d8c4693-8e36-473b-bb34-a7cdc04dd223 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/8bd0f598-a3db-4bae-a9ec-05d93b071540 | chr20:32433817-32434017 |
BCL7C | 9274 | NM_004765.4:c.528+3G>C | CA2573332812 | Intron inclusion between exons 5 & 6 | TCGA-85-7843-01A | https://portal.gdc.cancer.gov/cases/01417822-b608-4934-8fe0-594315212be5 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/cc39353d-336c-4810-9b78-9a135840fc68 | chr16:30888757-30888957 |
TP53 | 7157 | NM_000546.6:c.993G>A | CA10590137 | Intron inclusion between exons 9 & 10 | TCGA-MP-A4T9-01A | https://portal.gdc.cancer.gov/cases/70081320-540f-41d2-8687-ee6d011f8eb0 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/995183b8-de28-4e1b-a06e-d5e0e448d851 | chr17:7673435-7673635 |
KMT2C | 58508 | NM_170606.3:c.3840A>G | CA458693316 | Intron inclusion between exons 24 & 25 | TCGA-A8-A06P-01A | https://portal.gdc.cancer.gov/cases/5f90d955-bbb0-4b44-a5ac-ba6fda9ca0fb | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/a3d1ecd0-d295-4e5e-95c7-313a65253ba7 | chr7:152207201-152207401 |
ARID1A | 8289 | NM_006015.6:c.2989-3C>G | CA2573332857 | Intron inclusion between exons 10 & 11 | TCGA-EW-A1IX-01A | https://portal.gdc.cancer.gov/cases/e8614b7d-132e-4b4e-b1ae-df8bb4f2d4d4 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/23f3fa86-7a7d-4399-a06e-623742be1062 | chr1:26767687-26767887 |
ARID2 | 196528 | NM_152641.4:c.1911A>T | CA479401163 | Intron inclusion between exons 14 & 15 | TCGA-55-8089-01A | https://portal.gdc.cancer.gov/cases/1070ff27-17c9-43dd-a4f6-daa643eb9123 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/1336795f-b302-4d41-83f0-ce7a26a0d6c9 | chr12:45849675-45849875 |
POLD1 | 5424 | NM_002691.4:c.1243-3C>G | CA915951932 | Potential intron inclusion between exons 10 & 11 | TCGA-ZF-A9RL-01A | https://portal.gdc.cancer.gov/cases/386f51e4-d03a-4606-bf2e-6168f2122c5f | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/48956779-f7d8-4759-aef4-72ab9850bc5b | chr19:50406079-50406279 |
RAD51B | 5890 | NM_133510.4:c.957G>A | CA486946548 | Potential intron inclusion between exons 9 & 10 | TCGA-55-7570-01A | https://portal.gdc.cancer.gov/cases/ff07ea4b-4e50-410d-99d6-96a351dad7b1 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/cc47fcb4-905b-48b6-b89b-eecbac7f7f8f | chr14:68411427-68411627 |
TP53 | 7157 | NM_000546.6:c.375+1del | CA497926316 | Intron inclusion between exons 4 & 5 | TCGA-B6-A1KF-01A | https://portal.gdc.cancer.gov/cases/f30eb65f-fb44-4062-ac39-a38d072f655f | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/8c711b76-aadc-4c62-95c5-f2eb7fddf5c7 | chr17:7675894-7676094 |
TP53 | 7157 | NM_000546.6:c.376-1G>C | CA397843972 | Potential intron inclusion between exons 4 & 5 | TCGA-85-8355-01A | https://portal.gdc.cancer.gov/cases/cf3cdd9e-43fc-44c7-90c8-e4e13deed9c6 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/90919982-a05b-4ba2-9f83-823a2d943d25 | chr17:7675137-7675337 |
TP53 | 7157 | NM_000546.6:c.560-1G>C | CA397840948 | Potential intron inclusion between exons 5 & 6 | TCGA-LN-A9FR-01A | https://portal.gdc.cancer.gov/cases/cfdc8f4d-a25b-4c63-9832-58444581a505 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/2b072d2c-bc4e-4e07-a730-257b330f60f6 | chr17:7674872-7675072 |
TP53 | 7157 | NM_000546.6:c.96+1G>T | CA397848251 | Potential intron inclusion between exons 3 & 4 | TCGA-CV-A45X-01A | https://portal.gdc.cancer.gov/cases/3101785d-1cc2-4bd9-9fce-02205d0548c6 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/1988357b-18aa-46e0-ad48-50ccc5678d3c | chr17:7676281-7676481 |
EP300 | 2033 | NM_001429.4:c.4617+1G>A | CA411703776 | Intron inclusion between exons 28 & 29 | TCGA-LN-A49V-01A | https://portal.gdc.cancer.gov/cases/0ab29de2-eb9e-4a25-99de-5f543cfbdb53 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/afc706e5-296a-4cd1-9f82-3fa748c46d10 | chr22:41172564-41172764 |
KDM5C | 8242 | NM_004187.5:c.3120+2T>C | CA413111014 | Intron inclusion between exons 20 & 21 | TCGA-CD-A4MI-01A | https://portal.gdc.cancer.gov/cases/cda6d95c-be6a-485e-ba9a-c57f3eb3f99a | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/b7052c39-c57a-4483-8338-a11309d8200d | chrX:53195814-53196014 |
ERCC4 | 2072 | NM_005236.3:c.1811+2C>A | CA394812929 | Potential intron inclusion between exons 8 & 9 | TCGA-LN-A4MR-01A | https://portal.gdc.cancer.gov/cases/cc14603b-e32c-43f3-8218-b6ed7ee2ec18 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/123270b7-5fae-49ff-95ad-9f1b7844c2a4 | chr16:13935645-13935845 |
CACNA1D | 776 | NM_001128840.3:c.2621+1G>A | CA353241728 | Intron inclusion between exons 19 & 20 | TCGA-L5-A4OR-01A | https://portal.gdc.cancer.gov/cases/09eacbfd-3f4a-4d2b-b7a7-c021535e2981 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/ea031a50-6116-4d2f-aba1-c7bb505a8384 | chr3:53732863-53733063 |
TRMU | 55687 | NM_018006.5:c.1017A>G | CA514925893 | Potential intron inclusion between exons 9 & 10 | TCGA-L5-A43I-01A | https://portal.gdc.cancer.gov/cases/22ee75e0-5d61-41f4-aacd-b4e09c70d2c3 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/39e1feed-e795-4f02-9925-9616369f51df | chr22:46355487-46355687 |
FKTN | 2218 | NM_001079802.2:c.165+1G>A | CA197430741 | Intron inclusion between exons 4 & 5 | TCGA-BR-A452-01A | https://portal.gdc.cancer.gov/cases/722a3067-2b68-442f-a333-540ab085af32 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/db2d8f61-9d4d-4b93-8390-41a92f266516 | chr9:105596558-105596758 |
ACADM | 34 | NM_000016.6:c.850-1G>A | CA340816900 | Potential intron inclusion between exons 9 & 10 | TCGA-29-1699-01A | https://portal.gdc.cancer.gov/cases/fe0e3851-d8cb-4533-9536-b4826cd25f87 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/9732e34d-01ff-4230-b44b-970d99548ee9 | chr1:75750350-75750550 |
PRKDC | 5591 | NM_006904.7:c.8577G>A | CA460602606 | Intron inclusion between exons 62 & 63 | TCGA-GC-A3YS-01A | https://portal.gdc.cancer.gov/cases/4d323b18-ce5a-4516-862d-7ed1fdf1f008 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/5dbb2177-8ba2-4331-8aa3-58f8d9de79bc | chr8:47828068-47828268 |
PRKDC | 5591 | NM_006904.7:c.11853G>A | CA460601542 | Intron inclusion between exons 83 & 84 | TCGA-YF-AA3M-01A | https://portal.gdc.cancer.gov/cases/30ad8081-daa7-4e2b-96f8-07f5ad12e774 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/1e9b98e1-484d-420a-96a8-06aa1750d72d | chr8:47778359-47778559 |
BAP1 | 8314 | NM_004656.4:c.932-1G>T | CA353106396 | Potential intron inclusion between exons 10 & 11, or exon 11 skipping | TCGA-CZ-5985-01A | https://portal.gdc.cancer.gov/cases/4c474c70-1d72-49e8-a8cc-a4145c5ab607 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/b6ea1968-0589-4c38-ac2e-c0f3b2697513 | chr3:52405195-52405395 |
KDM6A | 7403 | NM_001291415.2:c.4035-2A>T | CA412774216 | Potential intron inclusion between exons 27 & 28 or skipping beginning of exon 28 | TCGA-E7-A6MD-01A | https://portal.gdc.cancer.gov/cases/92d27fec-30c2-4496-965d-df509d869eaa | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/71d542e1-939c-4e72-ac81-693f49f50704 | chrX:45107308-45107508 |
SMARCD1 | 6602 | NM_003076.5:c.1134-1G>A | CA384793796 | Intron inclusion between exons 9 & 10 | TCGA-GN-A8LK-06A | https://portal.gdc.cancer.gov/cases/962ff090-16c0-438b-8213-86b2bd306e4c | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/e18096ba-5427-4f03-a824-f2738437c64f | chr12:50094336-50094536 |
FH | 2271 | NM_000143.4:c.904+2_904+3delinsGG | CA2580617570 | Potential intron inclusion between exons 6 & 7 | TCGA-EE-A181-06A | https://portal.gdc.cancer.gov/cases/dde0b2be-ea43-4de7-8feb-ccdc073c6978 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/83e60181-7426-4388-8e7b-f72b276f8f58 | chr1:241505901-241506101 |
RECQL4 | 9401 | NM_004260.4:c.355-1G>C | CA372691804 | Potential intron inclusion between exons 4 & 5 | TCGA-CV-A45Z-01A | https://portal.gdc.cancer.gov/cases/e7174299-3ca7-4d51-9048-3ef3efde4e5c | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/d979c261-731e-4894-ac4e-0a1aa8b2b263 | chr8:144516665-144516865 |
VHL | 7428 | NM_000551.4:c.340+1G>C | CA020282 | Potential intron inclusion between exons 1 & 2 | TCGA-A3-3376-01A | https://portal.gdc.cancer.gov/cases/46240f32-116b-470c-9846-3616a6db4f2e | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/4173237a-e3dd-4ecf-aa3d-eb13ece6783b | chr3:10142088-10142288 |
VHL | 7428 | NM_000551.4:c.464-1G>T | CA357144 | Potential intron inclusion between exons 2 & 3 | TCGA-B0-5113-01A | https://portal.gdc.cancer.gov/cases/439794a8-51bd-4c70-968c-34cf26b90148 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/9aa457b9-7bd7-4b05-a4fc-c2fa4b520c91 | chr3:10149686-10149886 |
NF1 | 4763 | NM_001042492.3:c.7063-2A>G | CA399015494 | Intron inclusion between exons 47 & 48 | TCGA-22-5472-01A | https://portal.gdc.cancer.gov/cases/bd3bf142-7c14-4538-8a76-3c6e140fa01a | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/17f96521-c9ba-40e9-9f37-b719e9a54284 | chr17:31342907-31343107 |
EZH2 | 2146 | NM_004456.5:c.2195+1G>A | CA369711878 | Intron inclusion between exons 19 & 20 | TCGA-AB-2865 | https://portal.gdc.cancer.gov/cases/380a053f-03e4-4773-9e59-5e0af8edd9a5 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/f67b7891-a501-47a1-9781-48012a14f850 | chr7:148808970-148809170 |
HLA-B | 3106 | NM_005514.8:c.343+1G>A | CA363892418 | Intron inclusion between exons 2 & 3 | TCGA-CK-6751-01A | https://portal.gdc.cancer.gov/cases/7a70f061-9a6f-408e-a416-7f5295ceba3b | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/efa6c3a6-96e3-457e-9dba-d83ad2c55474 | chr6:31356587-31356787 |
HLA-B | 3106 | NM_005514.8:c.343+1_343+2delinsTC | CA2838139393 | Intron inclusion between exons 2 & 3 | TCGA-Z6-AAPN-01A | https://portal.gdc.cancer.gov/cases/2659bb79-95f9-4476-a516-f3800536422d | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/4597ed80-1459-4b4e-9f76-d69988de587d | chr6:31356587-31356787 |
HLA-A | 3105 | NM_002116.8:c.1013-1G>C | CA363048355 | Intron inclusion between exons 5 & 6 | TCGA-IR-A3LH-01A | https://portal.gdc.cancer.gov/cases/f24ed9c0-92bb-4003-86d2-42ab26617a05 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/5ba6cd75-6e27-40e6-aa98-3d02b7cfd05c | chr6:29944958-29945158 |
QKI | 9444 | NM_006775.3:c.634+2T>C | CA366480861 | Intron inclusion between exons 5 & 6 | TCGA-06-5416-01A | https://portal.gdc.cancer.gov/cases/3a3fc890-1985-4353-861b-dc3abfb364b1 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/29037dc4-36ea-46de-96a1-d564ea4c77ff | chr6:163561971-163562171 |
HLA-B | 3106 | NM_005514.8:c.619+3A>T | CA136833468 | Intron inclusion between exons 3 & 4 | TCGA-CZ-5468-01A | https://portal.gdc.cancer.gov/cases/878d1caa-c4d8-4864-888c-310a0c1ee898 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/eb410bcd-945a-42da-911c-f3f946a5f135 | chr6:31356064-31356264 |
HLA-A | 3105 | NM_002116.8:c.620-1G>A | CA363045865 | Intron inclusion between exons 3 & 4 | TCGA-EX-A69L-01A | https://portal.gdc.cancer.gov/cases/6dca2a6f-7f2c-4524-b528-396a889b2a3f | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/be2f6d16-ada3-44c6-b7f5-726078332c75 | chr6:29944021-29944221 |
HLA-C | 3107 | NM_002117.6:c.1048+2T>G | CA363319411 | Intron inclusion between exons 6 & 7 | TCGA-G2-A3VY-01A | https://portal.gdc.cancer.gov/cases/cd50c69f-0f45-4c57-b61a-8c6b41ab4f7e | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/2d9e76c4-d979-4275-9de6-9361ce5b9a27 | chr6:31269391-31269591 |
HLA-C | 3107 | NM_002117.6:c.1016-1G>T | CA363319482 | Intron inclusion between exons 5 & 6 | TCGA-D8-A1XQ-01A | https://portal.gdc.cancer.gov/cases/3886b4fb-ba22-4a50-b11a-a6893951f170 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/a6d07900-6fc0-495b-90d0-14675d414cb3 | chr6:31269526-31269626 |
B2M | 567 | NM_004048.4:c.346+1G>C | CA392233911 | Intron inclusion between exons 2 & 3 | TCGA-QG-A5YW-01A | https://portal.gdc.cancer.gov/cases/9f45a227-1fd5-478c-a194-4a5c61b68cc3 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/19a34c33-0285-4c24-8f15-4f5d9eb33a26 | chr15:44715602-44715802 |
KLF3 | 51274 | NM_016531.6:c.856+2T>C | CA356598393 | Intron inclusion between exons 5 & 6 | TCGA-BR-8289-01A | https://portal.gdc.cancer.gov/cases/889cb779-36a5-4ac6-b2cf-ea7be0cc387d | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/dfef4066-b89c-4ee6-a3ad-d0a4d70a4910 | chr4:38694808-38695008 |
HLA-A | 3105 | NM_002116.8:c.895+2T>C | CA363047688 | Intron inclusion between exons 4 & 5 | TCGA-CQ-7071-01A | https://portal.gdc.cancer.gov/cases/6ecccbf9-bfda-4f5e-9618-3bffaebf4660 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/2d230144-4b2d-4178-ba1c-4b5ad4345468 | chr6:29944299-29944499 |
B2M | 567 | NM_004048.4:c.68-2A>G | CA270116941 | Intron inclusion between exons 1 & 2 | TCGA-A6-6780-01A | https://portal.gdc.cancer.gov/cases/88832340-46ad-449c-8f81-6a8e5b495510 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/48095c99-ade3-4984-b816-3ae459669722 | chr15:44715321-44715521 |
HLA-B | 3106 | NM_005514.8:c.896-1G>C | CA363309222 | Intron inclusion between exons 4 & 5 | TCGA-VS-A94Z-01A | https://portal.gdc.cancer.gov/cases/69baba9f-19c2-4947-95dc-0dd3412929ba | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/d8487fb4-fbc7-4752-89f7-49eba6605f33 | chr6:31355124-31355324 |
RPL5 | 6125 | NM_000969.3:c.74-6T>G | CA2844606229 | Intron inclusion between exons 2 & 3 | TCGA-02-0047-01A | https://portal.gdc.cancer.gov/cases/3caf009f-d9e0-4c57-b1d9-8eb59fc833bd | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/c1873f41-6bb8-4edb-b8f2-a392ad7bebf3 | chr1:92833439-92833639 |
IFNGR1 | 3459 | NM_000416.3:c.547-1G>C | CA365775167 | Intron inclusion between exons 4 & 5 | TCGA-80-5607-01A | https://portal.gdc.cancer.gov/cases/645903b5-ba37-48a1-985b-a019b8db3236 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/f581a769-6ef2-4d00-985c-3f0d140132aa | chr6:137203586-137203786 |
CUL3 | 8452 | NM_003590.5:c.1485+2T>C | CA350826515 | Intron inclusion between exons 10 & 11 | TCGA-AX-A3FV-01A | https://portal.gdc.cancer.gov/cases/a033fbea-7cd0-4e65-94c4-b54f2f80b895 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/470be7a3-cde1-4931-a5bb-fd776e5273f8 | chr2:224502863-224503063 |
B2M | 567 | NM_004048.4:c.68-1G>T | CA392232570 | Intron inclusion between exons 1 & 2 | TCGA-AZ-6601-01A | https://portal.gdc.cancer.gov/cases/7ad0617e-bc4a-4869-8419-744f04d9b7a3 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/d0a01deb-187c-4fd0-9e4c-c9149ac7f1b4 | chr15:44715322-44715522 |
HLA-B | 3106 | NM_005514.8:c.620-3C>G | CA2677955357 | Intron inclusion between exons 3 & 4 | TCGA-NJ-A4YP-01A | https://portal.gdc.cancer.gov/cases/42259aa6-c9f5-4309-a956-dbf930312f44 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/c4334889-91a2-421a-8e17-c834fc6f62de | chr6:31355495-31355695 |
HLA-B | 3106 | NM_005514.8:c.896-1G>A | CA363309225 | Intron inclusion between exons 4 & 5 | TCGA-IR-A3LL-01A | https://portal.gdc.cancer.gov/cases/7c4ab1ca-4bdd-4ef7-9a42-f6c0c7136d26 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/885a54cc-6d2e-44da-87dd-efc4cf935cf0 | chr6:31355124-31355324 |
CUL3 | 8452 | NM_003590.5:c.1485+1G>T | CA350826518 | Intron inclusion between exons 10 & 11 | TCGA-77-7463-01A | https://portal.gdc.cancer.gov/cases/2f4c473d-7a1a-4004-936c-8d4a7a24e212 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/72116bc8-3a29-4ea7-a381-a56f0434dfc5 | chr2:224502864-224503064 |
NCOR1 | 9611 | NM_006311.4:c.3016+2T>C | CA398449053 | Intron inclusion between exons 22 & 23 | TCGA-EW-A1IZ-01A | https://portal.gdc.cancer.gov/cases/c0f88fc5-56b0-4255-bbd1-9a21ced8b37b | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/5bd5563d-52f5-41b9-be70-17a8e312bd56 | chr17:16091761-16091961 |
DDX3X | 1654 | NM_001356.5:c.1910-1G>T | CA412780704 | Intron inclusion between exons 16 & 17 | TCGA-85-A4JB-01A | https://portal.gdc.cancer.gov/cases/264b3066-b77b-4375-9847-adcf22dbc438 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/71239174-1b94-403c-9e67-57523e554885 | chrX:41347539-41347739 |
FAT1 | 2195 | NM_005245.4:c.8878+1G>T | CA358959810 | Intron inclusion between exons 10 & 11 | TCGA-56-7222-01A | https://portal.gdc.cancer.gov/cases/3768cf73-e389-449a-bde3-29eb20c9e249 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/51d076a0-8717-4012-b62a-3ccf7f71806d | chr4:186617607-186617807 |
HLA-A | 3105 | NM_002116.8:c.895+1G>T | CA136025051 | Intron inclusion between exons 4 & 5 | TCGA-CV-6943-01A | https://portal.gdc.cancer.gov/cases/8b574abc-646b-4252-8eb7-b9c737d034d9 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/4b96007c-1ca8-4aec-a920-ae039212d4bf | chr6:29944298-29944498 |
IRF2 | 3660 | NM_002199.4:c.363A>G | CA442580600 | Intron inclusion between exons 4 & 5 | TCGA-BR-4292-01A | https://portal.gdc.cancer.gov/cases/703d3e86-32f4-44ae-bd88-c02378fc2269 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/f5b2f186-7cce-4084-af30-aab46cfef2fe | chr4:184418433-184418633 |
CTNNA1 | 1495 | NM_001903.5:c.1900-1G>T | CA361132666 | Intron inclusion between exons 13 & 14 | TCGA-A2-A1FX-01A | https://portal.gdc.cancer.gov/cases/ac6d3ba9-f84f-4657-aa85-4d66fb7c09da | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/7abf638e-597d-4a40-8945-2d47a2502071 | chr5:138929145-138929345 |
KMT2B | 9757 | NM_014727.3:c.7872+1G>T | CA405439832 | Intron inclusion between exons 36 & 37 | TCGA-EP-A2KA-01A | https://portal.gdc.cancer.gov/cases/440375d7-cdcd-418a-8992-0a8ca42d290d | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/f1f80687-cede-4f69-8f82-266998c84af7 | chr19:35738092-35738292 |
KMT2B | 9757 | NM_014727.3:c.7551-3C>G | CA2850447411 | Potential intron inclusion between exons 33 & 34 | TCGA-OR-A5KV-01A | https://portal.gdc.cancer.gov/cases/202f7a77-9e5a-4f12-8ffe-78ae5527a746 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/f9484da1-b7b5-45ca-af75-f7966944456b | chr19:35737533-35737733 |
IRF1 | 3659 | NM_002198.3:c.718-2A>G | CA360814405 | Intron inclusion between exons 8 & 9 | TCGA-AA-3713-01A | https://portal.gdc.cancer.gov/cases/57a2044d-20cc-4d02-b268-ce570a0fabe3 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/20590d52-b942-4ab4-b86d-00a5068438e1 | chr5:132484399-132484599 |
FAT1 | 2195 | NM_005245.4:c.13138+1G>T | CA358963604 | Intron inclusion between exons 26 & 27 | TCGA-85-8666-01A | https://portal.gdc.cancer.gov/cases/34f7b63b-7a49-4b29-ab72-d880d87fb7b3 | hg38 | GDC/TCGA | https://portal.gdc.cancer.gov/files/57aba888-bc59-43ab-bea5-bf386ce67585 | chr4:186595588-186595788 |