422 KiB
422 KiB
1 | sampleId | variantType | gene | driverStatus | variantClass | proteinEffect | codon | transcript | position | variantInfo | study | gender | disease | diseaseSubType | assayVersion | age |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
2 | 2 | CN | RICTOR | likely | amplification | amplification | NM_152756 | chr5:38960567.0 | CN:7 | PEDIATRIC | M | CARCINOMA | Lung | v1 | 18 | |
3 | 3 | SV | CTNNB1 | likely | point | S45F | 45 | NM_001904 | chr3:41266137 | AF:0.36; DP:2151 | PEDIATRIC | F | CARCINOMA | Adrenal | v1 | 10 |
4 | 3 | SV | APC | likely | truncation | S1315fs*3 | 1315 | none | chr5:112175234 | AF:0.37; DP:1650 | PEDIATRIC | F | CARCINOMA | Adrenal | v1 | 10 |
5 | 3 | SV | NF1 | likely | truncation | G638* | 638 | NM_001042492 | chr17:29552179 | AF:0.6; DP:971 | PEDIATRIC | F | CARCINOMA | Adrenal | v1 | 10 |
6 | 3 | SV | TP53 | likely | truncation | C135fs*14 | 135 | NM_000546 | chr17:7578530 | AF:0.75; DP:956 | PEDIATRIC | F | CARCINOMA | Adrenal | v1 | 10 |
7 | 4 | RE | EWSR1 | likely | rearrangement | EWSR1-FLI1 fusion | none | chr22:29688419 | SR:341 | PEDIATRIC | M | SARCOMA | Ewing | v1 | 15 | |
8 | 5 | RE | CDKN2A | likely | truncation | CDKN2A truncation | none | chr9:21988840 | SR:142 | PEDIATRIC | M | SARCOMA | Soft tissue (NOS) | v1 | 18 | |
9 | 5 | SV | NRAS | likely | point | Q61K | 61 | NM_002524 | chr1:115256530 | AF:0.13; DP:324 | PEDIATRIC | M | SARCOMA | Soft tissue (NOS) | v1 | 18 |
10 | 5 | SV | ATM | likely | truncation | C384* | 384 | NM_000051 | chr11:108119746 | AF:0.06; DP:424 | PEDIATRIC | M | SARCOMA | Soft tissue (NOS) | v1 | 18 |
11 | 5 | SV | NRAS | likely | point | T50I | 50 | NM_002524 | chr1:115256562 | AF:0.17; DP:323 | PEDIATRIC | M | SARCOMA | Soft tissue (NOS) | v1 | 18 |
12 | 6 | SV | EPHA5 | likely | point | R417Q | 417 | NM_004439 | chr4:66356247 | AF:0.5; DP:1440 | PEDIATRIC | F | HEME | Lymphoma | v1 | 4 |
13 | 7 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | HEME | Leukemia (NOS) | v1 | 18 | |
14 | 8 | SV | BCL6 | likely | point | R459H | 459 | NM_001706 | chr3:187446312 | AF:0.47; DP:1038 | PEDIATRIC | F | HEME | Leukemia (NOS) | v1 | 14 |
15 | 10 | CN | RB1 | likely | deletion | deletion | NM_000321 | chr13:48953758.0 | CN:0 | PEDIATRIC | M | SARCOMA | Soft tissue (NOS) | v1 | 17 | |
16 | 10 | SV | TP53 | likely | truncation | R306* | 306 | NM_000546 | chr17:7577022 | AF:0.77; DP:976 | PEDIATRIC | M | SARCOMA | Soft tissue (NOS) | v1 | 17 |
17 | 11 | CN | RB1 | likely | deletion | deletion | NM_000321 | chr13:48953758.0 | CN:0 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v1 | 13 | |
18 | 13 | CN | KDR | likely | amplification | amplification | NM_002253 | chr4:55966522.0 | CN:30 | PEDIATRIC | M | BRAIN | Glioblastoma | v1 | 11 | |
19 | 13 | CN | KIT | likely | amplification | amplification | NM_000222 | chr4:55593645.0 | CN:16 | PEDIATRIC | M | BRAIN | Glioblastoma | v1 | 11 | |
20 | 13 | CN | PDGFRA | likely | amplification | amplification | NM_006206 | chr4:55139897.0 | CN:40 | PEDIATRIC | M | BRAIN | Glioblastoma | v1 | 11 | |
21 | 13 | SV | TP53 | likely | point | R280K | 280 | NM_000546 | chr17:7577099 | AF:0.55; DP:1563 | PEDIATRIC | M | BRAIN | Glioblastoma | v1 | 11 |
22 | 15 | CN | CDK4 | likely | amplification | amplification | NM_000075 | chr12:58144493.0 | CN:7 | PEDIATRIC | M | SARCOMA | MPNST | v1 | 17 | |
23 | 15 | CN | KDR | likely | amplification | amplification | NM_002253 | chr4:55966522.0 | CN:8 | PEDIATRIC | M | SARCOMA | MPNST | v1 | 17 | |
24 | 15 | CN | KIT | likely | amplification | amplification | NM_000222 | chr4:55593645.0 | CN:8 | PEDIATRIC | M | SARCOMA | MPNST | v1 | 17 | |
25 | 15 | CN | MDM2 | likely | amplification | amplification | NM_002392 | chr12:69218176.0 | CN:7 | PEDIATRIC | M | SARCOMA | MPNST | v1 | 17 | |
26 | 15 | CN | PDGFRA | likely | amplification | amplification | NM_006206 | chr4:55139897.0 | CN:8 | PEDIATRIC | M | SARCOMA | MPNST | v1 | 17 | |
27 | 16 | SV | RB1 | likely | truncation | splice site 1215+1G>A | NM_000321 | chr13:48947629 | AF:0.98; DP:620 | PEDIATRIC | F | BRAIN | PNET | v1 | 4 | |
28 | 18 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v1 | 10 | |
29 | 18 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v1 | 10 | |
30 | 18 | CN | MCL1 | likely | amplification | amplification | NM_182763 | chr1:150550843.0 | CN:7 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v1 | 10 | |
31 | 19 | SV | CDKN2A | likely | point | G101W | 101 | NM_000077 | chr9:21971057 | AF:0.53; DP:860 | PEDIATRIC | F | SARCOMA | RMS | v1 | 16 |
32 | 20 | SV | FGFR1 | likely | point | N546K | 546 | NM_023110 | chr8:38274849 | AF:0.52; DP:699 | PEDIATRIC | F | BRAIN | Glioblastoma | v1 | 17 |
33 | 21 | RE | EWSR1 | likely | truncation | EWSR1 truncation | none | chr22:29694153 | SR:129 | PEDIATRIC | M | SARCOMA | Ewing | v1 | 13 | |
34 | 22 | CN | CCND1 | likely | amplification | amplification | NM_053056 | chr11:69458679.0 | CN:13 | PEDIATRIC | F | SARCOMA | ASPS | v1 | 16 | |
35 | 23 | CN | SMARCB1 | likely | deletion | deletion | NM_003073 | chr22:24152283.0 | CN:0 | PEDIATRIC | F | BRAIN | Atypical Teratoid Rhaboid Tumor (ATRT) | v1 | 0 | |
36 | 24 | RE | TP53 | likely | truncation | TP53 truncation | none | chr17:7577044 | SR:13 | PEDIATRIC | M | SARCOMA | Soft tissue (NOS) | v1 | 16 | |
37 | 26 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | HEME | ALL | v1 | 14 | |
38 | 26 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | HEME | ALL | v1 | 14 | |
39 | 26 | RE | MLL | likely | truncation | MLL truncation | none | chr11:118366995 | SR:129 | PEDIATRIC | M | HEME | ALL | v1 | 14 | |
40 | 26 | SV | NRAS | likely | point | G12C | 12 | NM_002524 | chr1:115258748 | AF:0.49; DP:1639 | PEDIATRIC | M | HEME | ALL | v1 | 14 |
41 | 26 | SV | TP53 | likely | truncation | R196* | 196 | NM_000546 | chr17:7578263 | AF:0.49; DP:2705 | PEDIATRIC | M | HEME | ALL | v1 | 14 |
42 | 26 | SV | TP53 | likely | point | G244S | 244 | NM_000546 | chr17:7577551 | AF:0.47; DP:2213 | PEDIATRIC | M | HEME | ALL | v1 | 14 |
43 | 27 | RE | EWSR1 | likely | rearrangement | EWSR1-FLI1 fusion | none | chr22:29685256 | SR:259 | PEDIATRIC | M | SARCOMA | Ewing | v1 | 7 | |
44 | 28 | SV | SMARCB1 | likely | truncation | Y47* | 47 | NM_003073 | chr22:24133990 | AF:0.86; DP:712 | PEDIATRIC | F | BRAIN | Atypical Teratoid Rhaboid Tumor (ATRT) | v1 | 5 |
45 | 30 | SV | FBXW7 | likely | truncation | T628fs*7 | 628 | NM_033632 | chr4:153244263 | AF:0.18; DP:1367 | PEDIATRIC | F | HEME | ALL | v1 | 14 |
46 | 32 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | BRAIN | Glioblastoma | v1 | 13 | |
47 | 32 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | BRAIN | Glioblastoma | v1 | 13 | |
48 | 32 | SV | PTPRD | likely | truncation | S1845fs*2 | 1845 | NM_002839 | chr9:8331582 | AF:0.7; DP:1504 | PEDIATRIC | F | BRAIN | Glioblastoma | v1 | 13 |
49 | 32 | SV | BRAF | likely | point | V600E | 600 | NM_004333 | chr7:140453136 | AF:0.64; DP:2838 | PEDIATRIC | F | BRAIN | Glioblastoma | v1 | 13 |
50 | 33 | SV | PTPRD | likely | truncation | S1845fs*2 | 1845 | NM_002839 | chr9:8331582 | AF:0.71; DP:1143 | PEDIATRIC | M | SARCOMA | Synovial | v1 | 7 |
51 | 34 | SV | BRAF | likely | point | V600E | 600 | NM_004333 | chr7:140453136 | AF:0.38; DP:1561 | PEDIATRIC | M | BRAIN | Glioblastoma | v1 | 12 |
52 | 34 | SV | TP53 | likely | point | R342P | 342 | NM_000546 | chr17:7574002 | AF:0.4; DP:1999 | PEDIATRIC | M | BRAIN | Glioblastoma | v1 | 12 |
53 | 34 | SV | PTEN | likely | point | G36R | 36 | NM_000314 | chr10:89653808 | AF:0.1; DP:669 | PEDIATRIC | M | BRAIN | Glioblastoma | v1 | 12 |
54 | 34 | SV | TP53 | likely | truncation | Q192* | 192 | NM_000546 | chr17:7578275 | AF:0.4; DP:2975 | PEDIATRIC | M | BRAIN | Glioblastoma | v1 | 12 |
55 | 36 | SV | PTCH1 | likely | truncation | F88fs*28 | 88 | NM_000264 | chr9:98268820 | AF:0.85; DP:855 | PEDIATRIC | F | BRAIN | Medulloblastoma | v1 | 3 |
56 | 37 | CN | CCNE1 | likely | amplification | amplification | NM_001238 | chr19:30312185.0 | CN:9 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v1 | 18 | |
57 | 37 | CN | MET | likely | amplification | amplification | NM_000245 | chr7:116406510.0 | CN:7 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v1 | 18 | |
58 | 37 | SV | PIK3CA | likely | point | V344G | 344 | NM_006218 | chr3:178921549 | AF:0.21; DP:1633 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v1 | 18 |
59 | 37 | SV | PTPRD | likely | truncation | S1845fs*2 | 1845 | NM_002839 | chr9:8331582 | AF:0.32; DP:1353 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v1 | 18 |
60 | 38 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | HEME | AML | v1 | 0 | |
61 | 38 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | HEME | AML | v1 | 0 | |
62 | 38 | SV | NRAS | likely | point | Q61H | 61 | NM_002524 | chr1:115256528 | AF:0.39; DP:2576 | PEDIATRIC | F | HEME | AML | v1 | 0 |
63 | 39 | CN | MCL1 | likely | amplification | amplification | NM_182763 | chr1:150550843.0 | CN:6 | PEDIATRIC | F | SARCOMA | RMS | v1 | 6 | |
64 | 40 | SV | PTPRD | likely | truncation | S1845fs*2 | 1845 | NM_002839 | chr9:8331582 | AF:0.51; DP:892 | PEDIATRIC | M | BRAIN | Ependymoma | v1 | 14 |
65 | 43 | CN | SMARCB1 | likely | deletion | deletion | NM_003073 | chr22:24152283.0 | CN:0 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v1 | 1 | |
66 | 44 | CN | GATA1 | likely | deletion | deletion | NM_002049 | chrX:48650802.0 | CN:0 | PEDIATRIC | M | BRAIN | Astrocytoma | v1 | 9 | |
67 | 44 | SV | TP53 | likely | truncation | splice site 376-1G>A | NM_000546 | chr17:7578555 | AF:0.65; DP:1056 | PEDIATRIC | M | BRAIN | Astrocytoma | v1 | 9 | |
68 | 46 | SV | TP53 | likely | truncation | M340fs*6 | 340 | NM_000546 | chr17:7574008 | AF:0.51; DP:1148 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v1 | 5 |
69 | 47 | CN | FANCA | likely | deletion | deletion | NM_000135 | chr16:89839735.0 | CN:0 | PEDIATRIC | F | CARCINOMA | Upper GI | v1 | 16 | |
70 | 47 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:20 | PEDIATRIC | F | CARCINOMA | Upper GI | v1 | 16 | |
71 | 47 | SV | TP53 | likely | point | D259V | 259 | NM_000546 | chr17:7577505 | AF:0.36; DP:1786 | PEDIATRIC | F | CARCINOMA | Upper GI | v1 | 16 |
72 | 48 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:10 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v1 | 9 | |
73 | 48 | SV | ALK | likely | point | F1174L | 1174 | NM_004304 | chr2:29443695 | AF:0.42; DP:2754 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v1 | 9 |
74 | 49 | SV | PIK3CA | likely | point | N345K | 345 | NM_006218 | chr3:178921553 | AF:0.05; DP:1658 | PEDIATRIC | M | SARCOMA | RMS | v1 | 14 |
75 | 50 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:8 | PEDIATRIC | F | BRAIN | PNET | v1 | 14 | |
76 | 50 | SV | CTNNB1 | likely | point | D32N | 32 | NM_001904 | chr3:41266097 | AF:0.2; DP:2161 | PEDIATRIC | F | BRAIN | PNET | v1 | 14 |
77 | 50 | SV | CTNNB1 | likely | point | G34R | 34 | NM_001904 | chr3:41266103 | AF:0.02; DP:2197 | PEDIATRIC | F | BRAIN | PNET | v1 | 14 |
78 | 52 | CN | CDK4 | likely | amplification | amplification | NM_000075 | chr12:58144493.0 | CN:7 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v1 | 2 | |
79 | 52 | SV | ALK | likely | point | R1275Q | 1275 | NM_004304 | chr2:29432664 | AF:0.63; DP:2162 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v1 | 2 |
80 | 53 | RE | ALK | likely | rearrangement | ALK-PPM1B rearrangement | none | chr2:29446639 | SR:94 | PEDIATRIC | M | CARCINOMA | Lung | v2 | 15 | |
81 | 54 | CN | ATRX | likely | deletion | deletion | NM_000489 | chrX:76889127.0 | CN:None | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 5 | |
82 | 54 | CN | BRAF | likely | amplification | amplification | NM_004333 | chr7:140485129.0 | CN:6 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 5 | |
83 | 54 | SV | STK11 | likely | truncation | W308* | 308 | NM_000455 | chr19:1222986 | AF:0.26; DP:447 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 5 |
84 | 55 | RE | ETV6 | likely | rearrangement | ETV6-EP300 fusion | none | chr12:12023071 | SR:532 | PEDIATRIC | M | HEME | AML | v2 | 7 | |
85 | 55 | SV | TP53 | likely | point | R273C | 273 | NM_000546 | chr17:7577121 | AF:0.04; DP:1609 | PEDIATRIC | M | HEME | AML | v2 | 7 |
86 | 55 | SV | NOTCH1 | likely | truncation | P2514fs*4 | 2514 | NM_017617 | chr9:139390648 | AF:0.26; DP:1667 | PEDIATRIC | M | HEME | AML | v2 | 7 |
87 | 56 | SV | CTNNB1 | likely | point | S37F | 37 | NM_001904 | chr3:41266113 | AF:0.11; DP:1500 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v2 | 7 |
88 | 56 | SV | MSH6 | likely | truncation | P55fs*26 | 55 | NM_000179 | chr2:48010533 | AF:0.05; DP:875 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v2 | 7 |
89 | 56 | SV | ARID1A | likely | truncation | Q372fs*28 | 372 | NM_006015 | chr1:27024001 | AF:0.08; DP:388 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v2 | 7 |
90 | 57 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:30 | PEDIATRIC | F | SARCOMA | RMS | v2 | 4 | |
91 | 58 | SV | TP53 | likely | point | R282W | 282 | NM_000546 | chr17:7577094 | AF:0.78; DP:708 | PEDIATRIC | F | BRAIN | Astrocytoma | v2 | 14 |
92 | 59 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:16 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 3 | |
93 | 60 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | BRAIN | Meningioma | v2 | 5 | |
94 | 60 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | BRAIN | Meningioma | v2 | 5 | |
95 | 60 | SV | APC | likely | point | I1307K | 1307 | NM_000038 | chr5:112175211 | AF:0.48; DP:1167 | PEDIATRIC | F | BRAIN | Meningioma | v2 | 5 |
96 | 60 | SV | BRAF | likely | point | V600E | 600 | NM_004333 | chr7:140453136 | AF:0.52; DP:1434 | PEDIATRIC | F | BRAIN | Meningioma | v2 | 5 |
97 | 61 | SV | NF1 | likely | truncation | N1054fs*4 | 1054 | NM_001042492 | chr17:29557906 | AF:0.47; DP:1106 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 2 |
98 | 61 | SV | TSC2 | likely | point | A607T | 607 | NM_000548 | chr16:2120559 | AF:0.48; DP:624 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 2 |
99 | 62 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | BRAIN | Astrocytoma | v2 | 15 | |
100 | 62 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | BRAIN | Astrocytoma | v2 | 15 | |
101 | 62 | SV | ATRX | likely | truncation | R1504* | 1504 | NM_000489 | chrX:76907651 | AF:0.33; DP:548 | PEDIATRIC | M | BRAIN | Astrocytoma | v2 | 15 |
102 | 62 | SV | NF1 | likely | truncation | F1708fs*9 | 1708 | NM_001042492 | chr17:29653123 | AF:0.68; DP:939 | PEDIATRIC | M | BRAIN | Astrocytoma | v2 | 15 |
103 | 63 | SV | FBXW7 | likely | point | R479Q | 479 | NM_033632 | chr4:153247366 | AF:0.05; DP:876 | PEDIATRIC | M | HEME | Leukemia (NOS) | v2 | 7 |
104 | 63 | SV | TP53 | likely | point | Y220H | 220 | NM_000546 | chr17:7578191 | AF:0.04; DP:893 | PEDIATRIC | M | HEME | Leukemia (NOS) | v2 | 7 |
105 | 63 | SV | NRAS | likely | point | G13V | 13 | NM_002524 | chr1:115258744 | AF:0.04; DP:797 | PEDIATRIC | M | HEME | Leukemia (NOS) | v2 | 7 |
106 | 65 | CN | CCND1 | likely | amplification | amplification | NM_053056 | chr11:69458679.0 | CN:40 | PEDIATRIC | M | CARCINOMA | Neuroendocrine | v2 | 17 | |
107 | 65 | CN | FGF19 | likely | amplification | amplification | NM_005117 | chr11:69518080.0 | CN:40 | PEDIATRIC | M | CARCINOMA | Neuroendocrine | v2 | 17 | |
108 | 65 | CN | FGF3 | likely | amplification | amplification | NM_005247 | chr11:69631139.0 | CN:30 | PEDIATRIC | M | CARCINOMA | Neuroendocrine | v2 | 17 | |
109 | 65 | CN | FGF4 | likely | amplification | amplification | NM_002007 | chr11:69588843.0 | CN:28 | PEDIATRIC | M | CARCINOMA | Neuroendocrine | v2 | 17 | |
110 | 65 | CN | MDM4 | likely | amplification | amplification | NM_002393 | chr1:204506988.0 | CN:14 | PEDIATRIC | M | CARCINOMA | Neuroendocrine | v2 | 17 | |
111 | 65 | CN | MYCL1 | likely | amplification | amplification | NM_005376 | chr1:40365126.0 | CN:24 | PEDIATRIC | M | CARCINOMA | Neuroendocrine | v2 | 17 | |
112 | 65 | SV | MLL2 | likely | truncation | R4904* | 4904 | NM_003482 | chr12:49421039 | AF:0.42; DP:640 | PEDIATRIC | M | CARCINOMA | Neuroendocrine | v2 | 17 |
113 | 66 | SV | LRP1B | likely | point | G1055R | 1055 | NM_018557 | chr2:141680690 | AF:0.47; DP:1346 | PEDIATRIC | F | BRAIN | Atypical Teratoid Rhaboid Tumor (ATRT) | v2 | 2 |
114 | 66 | SV | SMARCB1 | likely | truncation | A382fs*5+ | 382 | NM_003073 | chr22:24176352 | AF:0.69; DP:288 | PEDIATRIC | F | BRAIN | Atypical Teratoid Rhaboid Tumor (ATRT) | v2 | 2 |
115 | 67 | CN | TP53 | likely | deletion | deletion | NM_000546 | chr17:7577322.0 | CN:0 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v2 | 16 | |
116 | 68 | CN | CCNE1 | likely | amplification | amplification | NM_001238 | chr19:30312185.0 | CN:14 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v2 | 18 | |
117 | 68 | CN | NFKBIA | likely | amplification | amplification | NM_020529 | chr14:35872220.0 | CN:7 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v2 | 18 | |
118 | 68 | CN | NKX2-1 | likely | amplification | amplification | NM_003317 | chr14:36988546.0 | CN:7 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v2 | 18 | |
119 | 68 | CN | PTEN | likely | deletion | deletion | NM_000314 | chr10:89692889.0 | CN:0 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v2 | 18 | |
120 | 68 | SV | TP53 | likely | point | R248W | 248 | NM_000546 | chr17:7577539 | AF:0.81; DP:1182 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v2 | 18 |
121 | 69 | SV | NF2 | likely | point | V146I | 146 | NM_000268 | chr22:30038263 | AF:0.01; DP:1082 | PEDIATRIC | F | BRAIN | Glioblastoma | v2 | 14 |
122 | 69 | SV | ATRX | likely | truncation | Q883fs*21 | 883 | NM_000489 | chrX:76938096 | AF:0.45; DP:1322 | PEDIATRIC | F | BRAIN | Glioblastoma | v2 | 14 |
123 | 69 | SV | TP53 | likely | point | G245D | 245 | NM_000546 | chr17:7577547 | AF:0.94; DP:918 | PEDIATRIC | F | BRAIN | Glioblastoma | v2 | 14 |
124 | 70 | RE | ALK | likely | rearrangement | ALK-NPM1 fusion | none | chr2:29447125 | SR:250 | PEDIATRIC | F | HEME | Lymphoma | v2 | 17 | |
125 | 70 | SV | TP53 | likely | point | R248Q | 248 | NM_000546 | chr17:7577538 | AF:0.9; DP:414 | PEDIATRIC | F | HEME | Lymphoma | v2 | 17 |
126 | 71 | SV | ALK | likely | point | F1174L | 1174 | NM_004304 | chr2:29443695 | AF:0.13; DP:807 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 1 |
127 | 72 | RE | BRAF | likely | rearrangement | BRAF-KIAA1549 fusion | none | chr7:140489335 | SR:70 | PEDIATRIC | F | BRAIN | Glioma | v2 | 1 | |
128 | 73 | SV | TP53 | likely | truncation | Y103* | 103 | NM_000546 | chr17:7579378 | AF:0.36; DP:1311 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 2 |
129 | 74 | RE | ATRX | likely | truncation | ATRX deletion | none | chrX:76909592 | SR:195 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 17 | |
130 | 74 | SV | ALK | likely | point | F1174L | 1174 | NM_004304 | chr2:29443695 | AF:0.54; DP:621 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 17 |
131 | 75 | SV | LRP1B | likely | point | D3472N | 3472 | NM_018557 | chr2:141200073 | AF:0.49; DP:828 | PEDIATRIC | F | HEME | AML | v2 | 3 |
132 | 75 | SV | PTPN11 | likely | point | D61V | 61 | NM_002834 | chr12:112888166 | AF:0.21; DP:991 | PEDIATRIC | F | HEME | AML | v2 | 3 |
133 | 77 | RE | ATRX | likely | truncation | ATRX deletion | none | chrX:76909611 | SR:111 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 10 | |
134 | 78 | RE | EWSR1 | likely | rearrangement | EWSR1-FLI1 fusion | none | chr22:29688364 | SR:126 | PEDIATRIC | F | SARCOMA | Ewing | v2 | 15 | |
135 | 78 | SV | MSH6 | likely | truncation | Q415fs*38 | 415 | NM_000179 | chr2:48026364 | AF:0.44; DP:672 | PEDIATRIC | F | SARCOMA | Ewing | v2 | 15 |
136 | 79 | SV | ALK | likely | point | F1174L | 1174 | NM_004304 | chr2:29443695 | AF:0.42; DP:817 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 1 |
137 | 80 | SV | SMARCB1 | likely | truncation | R201* | 201 | NM_003073 | chr22:24145582 | AF:0.73; DP:1127 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v2 | 0 |
138 | 81 | RE | NPM1 | likely | truncation | NPM1 truncation | none | chr5:170837599 | SR:13 | PEDIATRIC | F | HEME | AML | v2 | 2 | |
139 | 81 | SV | NRAS | likely | point | Q61H | 61 | NM_002524 | chr1:115256528 | AF:0.16; DP:1143 | PEDIATRIC | F | HEME | AML | v2 | 2 |
140 | 82 | SV | RB1 | likely | truncation | A74fs*4 | 74 | NM_000321 | chr13:48881488 | AF:0.34; DP:980 | PEDIATRIC | M | HEME | ALL | v2 | 8 |
141 | 82 | SV | TP53 | likely | truncation | V274fs*30 | 274 | NM_000546 | chr17:7577114 | AF:0.38; DP:1002 | PEDIATRIC | M | HEME | ALL | v2 | 8 |
142 | 83 | CN | C17orf39 | likely | amplification | amplification | NM_024052 | chr17:17959863.0 | CN:16 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v2 | 12 | |
143 | 83 | CN | FGF10 | likely | amplification | amplification | NM_004465 | chr5:44310580.0 | CN:7 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v2 | 12 | |
144 | 83 | CN | MCL1 | likely | amplification | amplification | NM_182763 | chr1:150550843.0 | CN:8 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v2 | 12 | |
145 | 83 | CN | RICTOR | likely | amplification | amplification | NM_152756 | chr5:38960567.0 | CN:7 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v2 | 12 | |
146 | 85 | CN | CCND3 | likely | amplification | amplification | NM_001136017 | chr6:41905052.0 | CN:13 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v2 | 8 | |
147 | 85 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v2 | 8 | |
148 | 85 | CN | KDR | likely | amplification | amplification | NM_002253 | chr4:55966522.0 | CN:7 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v2 | 8 | |
149 | 85 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v2 | 8 | |
150 | 85 | CN | KIT | likely | amplification | amplification | NM_000222 | chr4:55593645.0 | CN:7 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v2 | 8 | |
151 | 85 | CN | TP53 | likely | deletion | deletion | NM_000546 | chr17:7577322.0 | CN:0 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v2 | 8 | |
152 | 85 | CN | PDGFRA | likely | amplification | amplification | NM_006206 | chr4:55139897.0 | CN:7 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v2 | 8 | |
153 | 85 | SV | TP53 | likely | point | R283C | 283 | NM_000546 | chr17:7577091 | AF:0.52; DP:460 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v2 | 8 |
154 | 87 | CN | MCL1 | likely | amplification | amplification | NM_182763 | chr1:150550843.0 | CN:7 | PEDIATRIC | M | CARCINOMA | Lower GI | v2 | 16 | |
155 | 87 | CN | NFKBIA | likely | amplification | amplification | NM_020529 | chr14:35872220.0 | CN:8 | PEDIATRIC | M | CARCINOMA | Lower GI | v2 | 16 | |
156 | 87 | SV | APC | likely | truncation | R876* | 876 | NM_000038 | chr5:112173917 | AF:0.07; DP:1144 | PEDIATRIC | M | CARCINOMA | Lower GI | v2 | 16 |
157 | 87 | SV | CTNNB1 | likely | point | A43T | 43 | NM_001904 | chr3:41266130 | AF:0.05; DP:1158 | PEDIATRIC | M | CARCINOMA | Lower GI | v2 | 16 |
158 | 87 | SV | CREBBP | likely | point | R1446C | 1446 | NM_004380 | chr16:3788618 | AF:0.06; DP:940 | PEDIATRIC | M | CARCINOMA | Lower GI | v2 | 16 |
159 | 87 | SV | ERBB4 | likely | point | P800S | 800 | NM_005235 | chr2:212426717 | AF:0.05; DP:914 | PEDIATRIC | M | CARCINOMA | Lower GI | v2 | 16 |
160 | 87 | SV | KRAS | likely | point | A146T | 146 | NM_004985 | chr12:25378562 | AF:0.06; DP:1131 | PEDIATRIC | M | CARCINOMA | Lower GI | v2 | 16 |
161 | 87 | SV | PTEN | likely | truncation | N63fs*36 | 63 | NM_000314 | chr10:89685292 | AF:0.05; DP:1350 | PEDIATRIC | M | CARCINOMA | Lower GI | v2 | 16 |
162 | 87 | SV | ATR | likely | truncation | G2611* | 2611 | NM_001184 | chr3:142168375 | AF:0.06; DP:1158 | PEDIATRIC | M | CARCINOMA | Lower GI | v2 | 16 |
163 | 87 | SV | CREBBP | likely | truncation | splice site 3914+1G>A | NM_004380 | chr16:3795277 | AF:0.07; DP:813 | PEDIATRIC | M | CARCINOMA | Lower GI | v2 | 16 | |
164 | 87 | SV | DAXX | likely | truncation | K631fs*14 | 631 | NM_001350 | chr6:33287208 | AF:0.05; DP:1240 | PEDIATRIC | M | CARCINOMA | Lower GI | v2 | 16 |
165 | 87 | SV | MLH1 | likely | truncation | K57* | 57 | NM_000249 | chr3:37038162 | AF:0.57; DP:1330 | PEDIATRIC | M | CARCINOMA | Lower GI | v2 | 16 |
166 | 87 | SV | NCOR1 | likely | truncation | E255fs*1 | 255 | NM_006311 | chr17:16056679 | AF:0.05; DP:1231 | PEDIATRIC | M | CARCINOMA | Lower GI | v2 | 16 |
167 | 87 | SV | PTCH1 | likely | truncation | F611fs*12 | 611 | NM_000264 | chr9:98232112 | AF:0.05; DP:974 | PEDIATRIC | M | CARCINOMA | Lower GI | v2 | 16 |
168 | 87 | SV | SMARCB1 | likely | truncation | A93fs*50 | 93 | NM_003073 | chr22:24135788 | AF:0.07; DP:1052 | PEDIATRIC | M | CARCINOMA | Lower GI | v2 | 16 |
169 | 87 | SV | DDR2 | likely | point | R478H | 478 | NM_006182 | chr1:162740231 | AF:0.05; DP:959 | PEDIATRIC | M | CARCINOMA | Lower GI | v2 | 16 |
170 | 87 | SV | RUNX1 | likely | point | G165S | 165 | NM_001754 | chr21:36252869 | AF:0.06; DP:1349 | PEDIATRIC | M | CARCINOMA | Lower GI | v2 | 16 |
171 | 89 | SV | MAP3K1 | likely | truncation | Q61* | 61 | NM_005921 | chr5:56111581 | AF:0.36; DP:245 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 16 |
172 | 90 | SV | NRAS | likely | point | Q61R | 61 | NM_002524 | chr1:115256529 | AF:0.23; DP:514 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 11 |
173 | 92 | SV | ASXL1 | likely | truncation | R965* | 965 | NM_015338 | chr20:31023408 | AF:0.07; DP:605 | PEDIATRIC | M | HEME | AML | v2 | 16 |
174 | 92 | SV | MLH1 | likely | point | E13K | 13 | NM_000249 | chr3:37035075 | AF:0.08; DP:610 | PEDIATRIC | M | HEME | AML | v2 | 16 |
175 | 92 | SV | KIT | likely | point | D816H | 816 | NM_000222 | chr4:55599320 | AF:0.49; DP:943 | PEDIATRIC | M | HEME | AML | v2 | 16 |
176 | 92 | SV | NF1 | likely | truncation | R1534* | 1534 | NM_001042492 | chr17:29588751 | AF:0.02; DP:651 | PEDIATRIC | M | HEME | AML | v2 | 16 |
177 | 92 | SV | MLL2 | likely | truncation | L4463fs*56 | 4463 | NM_003482 | chr12:49425098 | AF:0.18; DP:561 | PEDIATRIC | M | HEME | AML | v2 | 16 |
178 | 93 | RE | CREBBP | likely | truncation | CREBBP deletion | none | chr16:3807853 | SR:89 | PEDIATRIC | F | HEME | ALL | v2 | 10 | |
179 | 93 | SV | CREBBP | likely | point | R1446C | 1446 | NM_004380 | chr16:3788618 | AF:0.06; DP:1051 | PEDIATRIC | F | HEME | ALL | v2 | 10 |
180 | 93 | SV | NRAS | likely | point | G12V | 12 | NM_002524 | chr1:115258747 | AF:0.05; DP:1252 | PEDIATRIC | F | HEME | ALL | v2 | 10 |
181 | 93 | SV | FGFR1 | likely | point | K656E | 656 | NM_023110 | chr8:38272308 | AF:0.02; DP:1702 | PEDIATRIC | F | HEME | ALL | v2 | 10 |
182 | 96 | RE | RET | likely | rearrangement | RET-NCOA4 fusion | none | chr10:43610530 | SR:381 | PEDIATRIC | F | CARCINOMA | Thyroid | v2 | 11 | |
183 | 97 | SV | CTNNB1 | likely | point | W383R | 383 | NM_001904 | chr3:41274897 | AF:0.08; DP:1264 | PEDIATRIC | M | CARCINOMA | HCC | v2 | 7 |
184 | 98 | SV | MSH6 | likely | point | V509A | 509 | NM_000179 | chr2:48026648 | AF:0.54; DP:293 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 3 |
185 | 99 | SV | ALK | likely | point | R1275Q | 1275 | NM_004304 | chr2:29432664 | AF:0.09; DP:984 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 2 |
186 | 100 | SV | PIK3CA | likely | point | E545K | 545 | NM_006218 | chr3:178936091 | AF:0.23; DP:442 | PEDIATRIC | F | SARCOMA | Hemangioma | v2 | 0 |
187 | 102 | CN | NF2 | likely | deletion | deletion | NM_000268 | chr22:30061016.0 | CN:0 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v2 | 11 | |
188 | 102 | RE | EWSR1 | likely | rearrangement | EWSR1-PATZ1 fusion | none | chr22:29685543 | SR:97 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v2 | 11 | |
189 | 102 | SV | DAXX | likely | truncation | R180fs*36 | 180 | NM_001350 | chr6:33289009 | AF:0.69; DP:501 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v2 | 11 |
190 | 102 | SV | DAXX | likely | truncation | P168fs*3 | 168 | NM_001350 | chr6:33289047 | AF:0.76; DP:459 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v2 | 11 |
191 | 102 | SV | DAXX | likely | truncation | E172fs*44 | 172 | NM_001350 | chr6:33289033 | AF:0.67; DP:516 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v2 | 11 |
192 | 103 | SV | MYCN | likely | point | P44L | 44 | NM_005378 | chr2:16082317 | AF:0.44; DP:297 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v2 | 5 |
193 | 109 | CN | ERBB4 | likely | amplification | amplification | NM_005235 | chr2:212534036.0 | CN:6 | PEDIATRIC | M | SARCOMA | DSRC | v2 | 16 | |
194 | 109 | SV | MLL2 | likely | truncation | V1374fs*58 | 1374 | NM_003482 | chr12:49442453 | AF:0.37; DP:729 | PEDIATRIC | M | SARCOMA | DSRC | v2 | 16 |
195 | 109 | SV | BRCA2 | likely | truncation | T1679fs*3 | 1679 | NM_000059 | chr13:32913526 | AF:0.43; DP:1128 | PEDIATRIC | M | SARCOMA | DSRC | v2 | 16 |
196 | 110 | SV | NRAS | likely | point | G13D | 13 | NM_002524 | chr1:115258744 | AF:0.07; DP:815 | PEDIATRIC | M | SARCOMA | Unknown | v2 | 3 |
197 | 111 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:32 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 13 | |
198 | 112 | RE | MLL | likely | rearrangement | MLL-MLLT3 fusion | none | chr11:118355489 | SR:134 | PEDIATRIC | F | HEME | AML | v3 | 4 | |
199 | 113 | CN | ARFRP1 | likely | amplification | amplification | NM_003224 | chr20:62335639.0 | CN:6 | PEDIATRIC | F | GONADAL TUMORS | Ovarian/Testis | v2 | 4 | |
200 | 113 | CN | ARID1A | likely | deletion | deletion | NM_006015 | chr1:27093674.0 | CN:0 | PEDIATRIC | F | GONADAL TUMORS | Ovarian/Testis | v2 | 4 | |
201 | 113 | SV | CBL | likely | point | W408C | 408 | NM_005188 | chr11:119149004 | AF:0.02; DP:567 | PEDIATRIC | F | GONADAL TUMORS | Ovarian/Testis | v2 | 4 |
202 | 114 | RE | LRP1B | likely | truncation | LRP1B truncation | none | chr2:141113906 | SR:180 | PEDIATRIC | M | SARCOMA | RMS | v2 | 1 | |
203 | 115 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | SARCOMA | RMS | v2 | 12 | |
204 | 115 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | SARCOMA | RMS | v2 | 12 | |
205 | 115 | SV | BRAF | likely | point | V600E | 600 | NM_004333 | chr7:140453136 | AF:0.43; DP:716 | PEDIATRIC | M | SARCOMA | RMS | v2 | 12 |
206 | 115 | SV | ATR | likely | truncation | splice | NM_001184 | chr3:142285103 | AF:0.45; DP:466 | PEDIATRIC | M | SARCOMA | RMS | v2 | 12 | |
207 | 116 | RE | BRAF | likely | rearrangement | BRAF-KIAA1549 fusion | none | chr7:140488312 | SR:89 | PEDIATRIC | M | BRAIN | Astrocytoma | v2 | 17 | |
208 | 117 | SV | TSC2 | likely | point | A1141T | 1141 | NM_000548 | chr16:2130189 | AF:0.45; DP:292 | PEDIATRIC | F | SARCOMA | ASPS | v2 | 14 |
209 | 119 | SV | EZH2 | likely | point | R690H | 690 | NM_004456 | chr7:148506443 | AF:0.08; DP:421 | PEDIATRIC | M | HEME | ALL | v3 | 16 |
210 | 119 | SV | PHF6 | likely | truncation | splice | NM_032458 | chrX:133551334 | AF:0.08; DP:385 | PEDIATRIC | M | HEME | ALL | v3 | 16 | |
211 | 119 | SV | NOTCH1 | likely | truncation | Q2184fs*63 | 2184 | NM_017617 | chr9:139391637 | AF:0.07; DP:391 | PEDIATRIC | M | HEME | ALL | v3 | 16 |
212 | 121 | CN | ATRX | likely | deletion | deletion | NM_000489 | chrX:76889127.0 | CN:None | PEDIATRIC | M | SARCOMA | Bone sarcoma | v2 | 16 | |
213 | 121 | CN | CCND3 | likely | amplification | amplification | NM_001136017 | chr6:41905052.0 | CN:7 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v2 | 16 | |
214 | 121 | CN | MCL1 | likely | amplification | amplification | NM_182763 | chr1:150550843.0 | CN:8 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v2 | 16 | |
215 | 121 | CN | TP53 | likely | deletion | deletion | NM_000546 | chr17:7577322.0 | CN:0 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v2 | 16 | |
216 | 121 | RE | NF1 | likely | rearrangement | NF1-NF1 duplication | none | chr17:29533444 | SR:34 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v2 | 16 | |
217 | 121 | SV | RB1 | likely | truncation | splice | NM_000321 | chr13:48954219 | AF:0.5; DP:548 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v2 | 16 | |
218 | 122 | SV | WT1 | likely | truncation | T231fs*55 | 231 | NM_024426 | chr11:32450119 | AF:0.46; DP:259 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Wilms tumor | v2 | 14 |
219 | 123 | CN | PTEN | likely | deletion | deletion | NM_000314 | chr10:89692889.0 | CN:0 | PEDIATRIC | F | BRAIN | Medulloblastoma | v2 | 7 | |
220 | 123 | CN | SUFU | likely | deletion | deletion | NM_016169 | chr10:104355373.0 | CN:0 | PEDIATRIC | F | BRAIN | Medulloblastoma | v2 | 7 | |
221 | 123 | CN | KIT | likely | amplification | amplification | NM_000222 | chr4:55593645.0 | CN:7 | PEDIATRIC | F | BRAIN | Medulloblastoma | v2 | 7 | |
222 | 123 | SV | TP53 | likely | truncation | R213* | 213 | NM_000546 | chr17:7578212 | AF:0.83; DP:422 | PEDIATRIC | F | BRAIN | Medulloblastoma | v2 | 7 |
223 | 124 | SV | VHL | likely | point | M1I | 1 | NM_000551 | chr3:10183534 | AF:0.51; DP:380 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Wilms tumor | v2 | 7 |
224 | 127 | RE | BRAF | likely | rearrangement | BRAF-KIAA1549 fusion | none | chr7:140481496 | SR:189 | PEDIATRIC | M | SARCOMA | Unknown | v2 | 2 | |
225 | 128 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:16 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 3 | |
226 | 128 | SV | ALK | likely | point | F1174S | 1174 | NM_004304 | chr2:29443696 | AF:0.07; DP:508 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 3 |
227 | 129 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:40 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 4 | |
228 | 129 | SV | FGFR1 | likely | point | N546K | 546 | NM_023110 | chr8:38274849 | AF:0.18; DP:673 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 4 |
229 | 129 | SV | MET | likely | point | L1112F | 1112 | NM_000245 | chr7:116417519 | AF:0.17; DP:743 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 4 |
230 | 130 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:9 | PEDIATRIC | F | GONADAL TUMORS | Ovarian/Testis | v2 | 15 | |
231 | 130 | CN | RICTOR | likely | amplification | amplification | NM_152756 | chr5:38960567.0 | CN:8 | PEDIATRIC | F | GONADAL TUMORS | Ovarian/Testis | v2 | 15 | |
232 | 130 | SV | TP53 | likely | point | A138V | 138 | NM_000546 | chr17:7578517 | AF:0.24; DP:493 | PEDIATRIC | F | GONADAL TUMORS | Ovarian/Testis | v2 | 15 |
233 | 131 | CN | CDK6 | likely | amplification | amplification | NM_001259 | chr7:92300794.0 | CN:6 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 4 | |
234 | 131 | CN | RPTOR | likely | amplification | amplification | NM_020761 | chr17:78862231.0 | CN:7 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 4 | |
235 | 133 | SV | FBXW7 | likely | truncation | V424fs*69 | 424 | NM_033632 | chr4:153249491 | AF:0.43; DP:594 | PEDIATRIC | M | HEME | Leukemia (NOS) | v2 | 4 |
236 | 133 | SV | PTPN11 | likely | point | G60V | 60 | NM_002834 | chr12:112888163 | AF:0.2; DP:722 | PEDIATRIC | M | HEME | Leukemia (NOS) | v2 | 4 |
237 | 133 | SV | NOTCH1 | likely | point | R1586C | 1586 | NM_017617 | chr9:139399387 | AF:0.53; DP:568 | PEDIATRIC | M | HEME | Leukemia (NOS) | v2 | 4 |
238 | 134 | CN | CDK4 | likely | amplification | amplification | NM_000075 | chr12:58144493.0 | CN:16 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 6 | |
239 | 134 | CN | MDM2 | likely | amplification | amplification | NM_002392 | chr12:69218176.0 | CN:16 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 6 | |
240 | 135 | SV | ALK | likely | point | F1245C | 1245 | NM_004304 | chr2:29436859 | AF:0.15; DP:1365 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 3 |
241 | 136 | CN | FGF3 | likely | amplification | amplification | NM_005247 | chr11:69631139.0 | CN:8 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v2 | 16 | |
242 | 136 | CN | FGF4 | likely | amplification | amplification | NM_002007 | chr11:69588843.0 | CN:8 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v2 | 16 | |
243 | 136 | CN | FGF19 | likely | amplification | amplification | NM_005117 | chr11:69518080.0 | CN:8 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v2 | 16 | |
244 | 136 | CN | CCND1 | likely | amplification | amplification | NM_053056 | chr11:69458679.0 | CN:8 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v2 | 16 | |
245 | 136 | CN | CCNE1 | likely | amplification | amplification | NM_001238 | chr19:30312185.0 | CN:10 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v2 | 16 | |
246 | 136 | CN | KDR | likely | amplification | amplification | NM_002253 | chr4:55966522.0 | CN:9 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v2 | 16 | |
247 | 136 | CN | NFKBIA | likely | amplification | amplification | NM_020529 | chr14:35872220.0 | CN:8 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v2 | 16 | |
248 | 136 | CN | PDGFRA | likely | amplification | amplification | NM_006206 | chr4:55139897.0 | CN:8 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v2 | 16 | |
249 | 136 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:10 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v2 | 16 | |
250 | 136 | CN | KIT | likely | amplification | amplification | NM_000222 | chr4:55593645.0 | CN:9 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v2 | 16 | |
251 | 136 | SV | CDKN2A | likely | truncation | Y44fs*1 | 44 | NM_000077 | chr9:21974694 | AF:0.98; DP:324 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v2 | 16 |
252 | 136 | SV | TP53 | likely | point | H193R | 193 | NM_000546 | chr17:7578271 | AF:0.96; DP:517 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v2 | 16 |
253 | 137 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:100 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 1 | |
254 | 137 | SV | TP53 | likely | truncation | splice site 993+1G>A | NM_000546 | chr17:7576852 | AF:0.37; DP:685 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 1 | |
255 | 138 | CN | MDM4 | likely | amplification | amplification | NM_002393 | chr1:204506988.0 | CN:8 | PEDIATRIC | F | SARCOMA | RMS | v2 | 13 | |
256 | 139 | CN | ERBB4 | likely | amplification | amplification | NM_005235 | chr2:212534036.0 | CN:6 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v2 | 2 | |
257 | 139 | SV | CTNNB1 | likely | point | W25_H36del | 25 | NM_001904 | chr3:41266074 | AF:0.13; DP:581 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v2 | 2 |
258 | 139 | SV | MLL2 | likely | point | R466C | 466 | NM_003482 | chr12:49446070 | AF:0.49; DP:559 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v2 | 2 |
259 | 140 | SV | KRAS | likely | point | Q61P | 61 | NM_004985 | chr12:25380276 | AF:0.94; DP:720 | PEDIATRIC | F | GONADAL TUMORS | Ovarian/Testis | v2 | 18 |
260 | 140 | SV | CTNNB1 | likely | point | W383S | 383 | NM_001904 | chr3:41274898 | AF:0.5; DP:737 | PEDIATRIC | F | GONADAL TUMORS | Ovarian/Testis | v2 | 18 |
261 | 143 | CN | AKT3 | likely | amplification | amplification | NM_005465 | chr1:243756648.0 | CN:6 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Wilms tumor | v2 | 6 | |
262 | 143 | CN | MCL1 | likely | amplification | amplification | NM_182763 | chr1:150550843.0 | CN:6 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Wilms tumor | v2 | 6 | |
263 | 144 | SV | KRAS | likely | point | G12D | 12 | NM_004985 | chr12:25398284 | AF:0.41; DP:598 | PEDIATRIC | M | HEME | Leukemia (NOS) | v3 | 8 |
264 | 144 | SV | TP53 | likely | point | K132E | 132 | NM_000546 | chr17:7578536 | AF:0.86; DP:595 | PEDIATRIC | M | HEME | Leukemia (NOS) | v3 | 8 |
265 | 145 | CN | MET | likely | amplification | amplification | NM_000245 | chr7:116406510.0 | CN:6 | PEDIATRIC | M | BRAIN | Glioblastoma | v2 | 15 | |
266 | 145 | CN | EGFR | likely | amplification | amplification | NM_005228 | chr7:55234642.0 | CN:30 | PEDIATRIC | M | BRAIN | Glioblastoma | v2 | 15 | |
267 | 145 | RE | EGFR | likely | truncation | EGFR deletion | none | chr7:55222843 | SR:1253 | PEDIATRIC | M | BRAIN | Glioblastoma | v2 | 15 | |
268 | 145 | SV | CRBN | likely | point | T425M | 425 | NM_016302 | chr3:3192604 | AF:0.46; DP:596 | PEDIATRIC | M | BRAIN | Glioblastoma | v2 | 15 |
269 | 145 | SV | RB1 | likely | truncation | splice site 607+1G>A | NM_000321 | chr13:48923160 | AF:0.59; DP:289 | PEDIATRIC | M | BRAIN | Glioblastoma | v2 | 15 | |
270 | 145 | SV | TP53 | likely | point | G334W | 334 | NM_000546 | chr17:7574027 | AF:0.93; DP:607 | PEDIATRIC | M | BRAIN | Glioblastoma | v2 | 15 |
271 | 146 | SV | NRAS | likely | point | Q61K | 61 | NM_002524 | chr1:115256530 | AF:0.5; DP:953 | PEDIATRIC | F | SARCOMA | RMS | v2 | 1 |
272 | 147 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 8 | |
273 | 147 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 8 | |
274 | 147 | SV | ATRX | likely | truncation | R907* | 907 | NM_000489 | chrX:76938029 | AF:0.89; DP:351 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 8 |
275 | 147 | SV | SMARCA4 | likely | truncation | E663* | 663 | NM_003072 | chr19:11114059 | AF:0.46; DP:675 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 8 |
276 | 149 | SV | RB1 | likely | truncation | N290fs*11 | 290 | NM_000321 | chr13:48939036 | AF:0.15; DP:537 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 17 |
277 | 150 | CN | SUFU | likely | deletion | deletion | NM_016169 | chr10:104355373.0 | CN:0 | PEDIATRIC | M | BRAIN | Medulloblastoma | v2 | 1 | |
278 | 150 | SV | PIK3CA | likely | point | E545K | 545 | NM_006218 | chr3:178936091 | AF:0.46; DP:681 | PEDIATRIC | M | BRAIN | Medulloblastoma | v2 | 1 |
279 | 150 | SV | MLL2 | likely | truncation | S4456fs*66 | 4456 | NM_003482 | chr12:49425123 | AF:0.45; DP:394 | PEDIATRIC | M | BRAIN | Medulloblastoma | v2 | 1 |
280 | 151 | SV | MTOR | likely | point | A1124V | 1124 | NM_004958 | chr1:11272880 | AF:0.02; DP:587 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 5 |
281 | 151 | SV | SMARCA4 | likely | truncation | R1415* | 1415 | NM_003072 | chr19:11152055 | AF:0.76; DP:382 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 5 |
282 | 152 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:16 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 3 | |
283 | 152 | CN | ALK | likely | amplification | amplification | NM_004304 | chr2:29455242.0 | CN:16 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 3 | |
284 | 154 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:16 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 7 | |
285 | 154 | SV | ALK | likely | point | R1275Q | 1275 | NM_004304 | chr2:29432664 | AF:0.42; DP:798 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 7 |
286 | 155 | CN | ERBB4 | likely | amplification | amplification | NM_005235 | chr2:212534036.0 | CN:8 | PEDIATRIC | F | CARCINOMA | Panc/biliary | v2 | 17 | |
287 | 155 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | CARCINOMA | Panc/biliary | v2 | 17 | |
288 | 155 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | CARCINOMA | Panc/biliary | v2 | 17 | |
289 | 156 | SV | KDM5C | likely | point | R179H | 179 | NM_004187 | chrX:53246446 | AF:1; DP:442 | PEDIATRIC | M | GONADAL TUMORS | Ovarian/Testis | v2 | 17 |
290 | 156 | SV | TP53 | likely | point | R273C | 273 | NM_000546 | chr17:7577121 | AF:0.85; DP:847 | PEDIATRIC | M | GONADAL TUMORS | Ovarian/Testis | v2 | 17 |
291 | 157 | SV | ALK | likely | point | F1174V | 1174 | NM_004304 | chr2:29443697 | AF:0.05; DP:587 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 2 |
292 | 157 | SV | ALK | likely | point | F1245L | 1245 | NM_004304 | chr2:29436858 | AF:0.02; DP:701 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 2 |
293 | 157 | SV | TP53 | likely | point | R156H | 156 | NM_000546 | chr17:7578463 | AF:0.49; DP:833 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 2 |
294 | 158 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:10 | PEDIATRIC | M | HEME | AML | v3 | 18 | |
295 | 158 | CN | HGF | likely | amplification | amplification | NM_000601 | chr7:81355269.0 | CN:9 | PEDIATRIC | M | HEME | AML | v3 | 18 | |
296 | 158 | SV | TP53 | likely | truncation | F212fs*3 | 212 | NM_000546 | chr17:7578214 | AF:0.7; DP:508 | PEDIATRIC | M | HEME | AML | v3 | 18 |
297 | 158 | SV | NF1 | likely | truncation | splice | NM_001042492 | chr17:29556993 | AF:0.74; DP:286 | PEDIATRIC | M | HEME | AML | v3 | 18 | |
298 | 159 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:11 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 1 | |
299 | 160 | SV | CDH1 | likely | point | T379M | 379 | NM_004360 | chr16:68846165 | AF:0.02; DP:685 | PEDIATRIC | F | HEME | Leukemia (NOS) | v3 | 8 |
300 | 160 | SV | CREBBP | likely | point | Q1491K | 1491 | NM_004380 | chr16:3786740 | AF:0.66; DP:1232 | PEDIATRIC | F | HEME | Leukemia (NOS) | v3 | 8 |
301 | 160 | SV | CDKN2A | likely | truncation | R80* | 80 | NM_000077 | chr9:21971120 | AF:0.09; DP:528 | PEDIATRIC | F | HEME | Leukemia (NOS) | v3 | 8 |
302 | 160 | SV | CREBBP | likely | point | A259T | 259 | NM_004380 | chr16:3900321 | AF:0.01; DP:852 | PEDIATRIC | F | HEME | Leukemia (NOS) | v3 | 8 |
303 | 160 | SV | KDM5C | likely | point | R1166H | 1166 | NM_004187 | chrX:53223862 | AF:0.04; DP:1020 | PEDIATRIC | F | HEME | Leukemia (NOS) | v3 | 8 |
304 | 160 | SV | PDGFRA | likely | point | R151H | 151 | NM_006206 | chr4:55129918 | AF:0.01; DP:1183 | PEDIATRIC | F | HEME | Leukemia (NOS) | v3 | 8 |
305 | 160 | SV | RNF43 | likely | point | R286W | 286 | NM_017763 | chr17:56437606 | AF:0.05; DP:905 | PEDIATRIC | F | HEME | Leukemia (NOS) | v3 | 8 |
306 | 160 | SV | RUNX1T1 | likely | point | R458C | 458 | NM_001198631 | chr8:92983053 | AF:0.02; DP:681 | PEDIATRIC | F | HEME | Leukemia (NOS) | v3 | 8 |
307 | 160 | SV | TP53 | likely | point | R248Q | 248 | NM_000546 | chr17:7577538 | AF:0.27; DP:1128 | PEDIATRIC | F | HEME | Leukemia (NOS) | v3 | 8 |
308 | 160 | SV | TP53 | likely | point | R175H | 175 | NM_000546 | chr17:7578406 | AF:0.02; DP:1033 | PEDIATRIC | F | HEME | Leukemia (NOS) | v3 | 8 |
309 | 160 | SV | TP53 | likely | point | R158H | 158 | NM_000546 | chr17:7578457 | AF:0.04; DP:1249 | PEDIATRIC | F | HEME | Leukemia (NOS) | v3 | 8 |
310 | 160 | SV | TRRAP | likely | point | G896S | 896 | NM_003496 | chr7:98519439 | AF:0.05; DP:690 | PEDIATRIC | F | HEME | Leukemia (NOS) | v3 | 8 |
311 | 160 | SV | TRRAP | likely | point | E1228K | 1228 | NM_003496 | chr7:98529118 | AF:0.26; DP:743 | PEDIATRIC | F | HEME | Leukemia (NOS) | v3 | 8 |
312 | 160 | SV | PTPN11 | likely | truncation | S502fs*25 | 502 | NM_002834 | chr12:112926885 | AF:1; DP:447 | PEDIATRIC | F | HEME | Leukemia (NOS) | v3 | 8 |
313 | 160 | SV | LRRK2 | likely | point | V2150I | 2150 | NM_198578 | chr12:40745407 | AF:0.02; DP:732 | PEDIATRIC | F | HEME | Leukemia (NOS) | v3 | 8 |
314 | 161 | RE | EWSR1 | likely | rearrangement | EWSR1-ERG fusion | none | chr22:29684749 | SR:62 | PEDIATRIC | M | SARCOMA | Ewing | v3 | 16 | |
315 | 161 | SV | ASXL1 | likely | truncation | G646fs*12 | 646 | NM_015338 | chr20:31022441 | AF:0.27; DP:614 | PEDIATRIC | M | SARCOMA | Ewing | v3 | 16 |
316 | 162 | SV | PALB2 | likely | truncation | splice site 3351-2A>G | NM_024675 | chr16:23614992 | AF:0.53; DP:357 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 7 | |
317 | 163 | CN | RPTOR | likely | amplification | amplification | NM_020761 | chr17:78862231.0 | CN:11 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 3 | |
318 | 164 | CN | ATRX | likely | deletion | deletion | NM_000489 | chrX:76889127.0 | CN:0 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 5 | |
319 | 164 | SV | CDKN2A | likely | truncation | R58* | 58 | NM_000077 | chr9:21971186 | AF:0.3; DP:374 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 5 |
320 | 164 | SV | JAK1 | likely | point | Y1034N | 1034 | NM_002227 | chr1:65303655 | AF:0.29; DP:801 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 5 |
321 | 166 | SV | PTEN | likely | point | A79T | 79 | NM_000314 | chr10:89690828 | AF:0.43; DP:569 | PEDIATRIC | F | SARCOMA | Fibromatosis | v2 | 16 |
322 | 166 | SV | CTNNB1 | likely | point | T41A | 41 | NM_001904 | chr3:41266124 | AF:0.03; DP:661 | PEDIATRIC | F | SARCOMA | Fibromatosis | v2 | 16 |
323 | 167 | SV | NF1 | likely | truncation | R1534* | 1534 | NM_001042492 | chr17:29588751 | AF:0.28; DP:543 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 4 |
324 | 167 | SV | ATR | likely | truncation | Q1108* | 1108 | NM_001184 | chr3:142266602 | AF:0.49; DP:757 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 4 |
325 | 168 | CN | NF1 | likely | deletion | deletion | NM_001042492 | chr17:29576069.0 | CN:0 | PEDIATRIC | F | SARCOMA | RMS | v2 | 15 | |
326 | 168 | CN | MDM2 | likely | amplification | amplification | NM_002392 | chr12:69218176.0 | CN:7 | PEDIATRIC | F | SARCOMA | RMS | v2 | 15 | |
327 | 168 | SV | BCOR | likely | truncation | Q1272fs*20 | 1272 | NM_017745 | chrX:39922257 | AF:0.56; DP:553 | PEDIATRIC | F | SARCOMA | RMS | v2 | 15 |
328 | 168 | SV | ERBB2 | likely | point | T862A | 862 | NM_004448 | chr17:37881392 | AF:0.31; DP:627 | PEDIATRIC | F | SARCOMA | RMS | v2 | 15 |
329 | 168 | SV | TP53 | likely | point | R248W | 248 | NM_000546 | chr17:7577539 | AF:0.04; DP:590 | PEDIATRIC | F | SARCOMA | RMS | v2 | 15 |
330 | 168 | SV | NOTCH3 | likely | truncation | D2171fs*65 | 2171 | NM_000435 | chr19:15271905 | AF:0.35; DP:284 | PEDIATRIC | F | SARCOMA | RMS | v2 | 15 |
331 | 169 | SV | PIK3CA | likely | point | G1007R | 1007 | NM_006218 | chr3:178951964 | AF:0.16; DP:883 | PEDIATRIC | M | SARCOMA | DSRC | v2 | 10 |
332 | 170 | CN | CDK4 | likely | amplification | amplification | NM_000075 | chr12:58144493.0 | CN:9 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 10 | |
333 | 170 | CN | MDM2 | likely | amplification | amplification | NM_002392 | chr12:69218176.0 | CN:9 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 10 | |
334 | 171 | CN | NF1 | likely | deletion | deletion | NM_001042492 | chr17:29576069.0 | CN:0 | PEDIATRIC | M | BRAIN | Glioblastoma | v3 | 8 | |
335 | 171 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:16 | PEDIATRIC | M | BRAIN | Glioblastoma | v3 | 8 | |
336 | 171 | SV | TP53 | likely | point | R248Q | 248 | NM_000546 | chr17:7577538 | AF:0.77; DP:388 | PEDIATRIC | M | BRAIN | Glioblastoma | v3 | 8 |
337 | 174 | CN | RB1 | likely | deletion | deletion | NM_000321 | chr13:48953758.0 | CN:0 | PEDIATRIC | F | CARCINOMA | Neuroendocrine | v2 | 18 | |
338 | 175 | CN | IGF1R | likely | amplification | amplification | NM_000875 | chr15:99465518.0 | CN:8 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v3 | 17 | |
339 | 175 | CN | AURKB | likely | amplification | amplification | NM_004217 | chr17:8110350.0 | CN:7 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v3 | 17 | |
340 | 175 | CN | JUN | likely | amplification | amplification | NM_002228 | chr1:59248244.0 | CN:8 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v3 | 17 | |
341 | 175 | CN | CCND3 | likely | amplification | amplification | NM_001136017 | chr6:41905052.0 | CN:16 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v3 | 17 | |
342 | 175 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:7 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v3 | 17 | |
343 | 175 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v3 | 17 | |
344 | 175 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v3 | 17 | |
345 | 175 | SV | TBX3 | likely | point | S615A | 615 | NM_016569 | chr12:115110035 | AF:0.22; DP:444 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v3 | 17 |
346 | 175 | SV | MLH1 | likely | truncation | L639fs*4 | 639 | NM_000249 | chr3:37090026 | AF:0.28; DP:487 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v3 | 17 |
347 | 176 | SV | TP53 | likely | point | C135F | 135 | NM_000546 | chr17:7578526 | AF:0.03; DP:550 | PEDIATRIC | M | SARCOMA | RMS | v3 | 4 |
348 | 177 | SV | CTNNB1 | likely | point | T41A | 41 | NM_001904 | chr3:41266124 | AF:0.17; DP:654 | PEDIATRIC | F | SARCOMA | Unknown | v3 | 11 |
349 | 177 | SV | PIK3CA | likely | point | E453K | 453 | NM_006218 | chr3:178928079 | AF:0.16; DP:576 | PEDIATRIC | F | SARCOMA | Unknown | v3 | 11 |
350 | 179 | SV | LRRK2 | likely | point | Q1823K | 1823 | NM_198578 | chr12:40716270 | AF:0.48; DP:620 | PEDIATRIC | M | SARCOMA | Fibromatosis | v3 | 8 |
351 | 179 | SV | CTNNB1 | likely | point | S45F | 45 | NM_001904 | chr3:41266137 | AF:0.32; DP:696 | PEDIATRIC | M | SARCOMA | Fibromatosis | v3 | 8 |
352 | 180 | CN | EED | likely | deletion | deletion | NM_003797 | chr11:85975259.0 | CN:0 | PEDIATRIC | M | SARCOMA | RMS | v3 | 12 | |
353 | 180 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | SARCOMA | RMS | v3 | 12 | |
354 | 180 | SV | LRP1B | likely | truncation | W2722* | 2722 | NM_018557 | chr2:141272326 | AF:0.24; DP:652 | PEDIATRIC | M | SARCOMA | RMS | v3 | 12 |
355 | 183 | CN | CCND1 | likely | amplification | amplification | NM_053056 | chr11:69458679.0 | CN:6 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 3 | |
356 | 183 | SV | DAXX | likely | truncation | H711fs*30 | 711 | NM_001350 | chr6:33286811 | AF:0.82; DP:728 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 3 |
357 | 184 | CN | MDM2 | likely | amplification | amplification | NM_002392 | chr12:69218176.0 | CN:68 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 3 | |
358 | 184 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:267 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 3 | |
359 | 185 | RE | MYC | likely | rearrangement | MYC-IGH fusion | none | chr8:128748969 | SR:29 | PEDIATRIC | M | HEME | Lymphoma | v3 | 4 | |
360 | 185 | SV | RUNX1 | likely | point | R162S | 162 | NM_001754 | chr21:36252876 | AF:0.02; DP:763 | PEDIATRIC | M | HEME | Lymphoma | v3 | 4 |
361 | 185 | SV | TP53 | likely | point | R175H | 175 | NM_000546 | chr17:7578406 | AF:0.92; DP:377 | PEDIATRIC | M | HEME | Lymphoma | v3 | 4 |
362 | 185 | SV | CDKN2A | likely | truncation | W110* | 110 | NM_000077 | chr9:21971028 | AF:0.52; DP:588 | PEDIATRIC | M | HEME | Lymphoma | v3 | 4 |
363 | 185 | SV | HIST1H2BK | likely | truncation | splice | NM_080593 | chr6:27114166 | AF:0.1; DP:282 | PEDIATRIC | M | HEME | Lymphoma | v3 | 4 | |
364 | 186 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 8 | |
365 | 186 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 8 | |
366 | 186 | SV | NRAS | likely | point | Q61K | 61 | NM_002524 | chr1:115256530 | AF:0.42; DP:754 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 8 |
367 | 187 | CN | FGF14 | likely | amplification | amplification | NM_175929 | chr13:102524359.0 | CN:6 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Wilms tumor | v3 | 5 | |
368 | 187 | CN | IRS2 | likely | amplification | amplification | NM_003749 | chr13:110421551.0 | CN:6 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Wilms tumor | v3 | 5 | |
369 | 188 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:16 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 2 | |
370 | 189 | SV | BRCA1 | likely | truncation | L1553fs*6 | 1553 | NM_007294 | chr17:41226365 | AF:0.5; DP:590 | PEDIATRIC | F | HEME | Histiocytic neoplasm | v2 | 3 |
371 | 191 | CN | SUFU | likely | deletion | deletion | NM_016169 | chr10:104355373.0 | CN:0 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v3 | 8 | |
372 | 191 | CN | PTEN | likely | deletion | deletion | NM_000314 | chr10:89692889.0 | CN:0 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v3 | 8 | |
373 | 191 | CN | TP53 | likely | deletion | deletion | NM_000546 | chr17:7577322.0 | CN:0 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v3 | 8 | |
374 | 191 | CN | NF2 | likely | deletion | deletion | NM_000268 | chr22:30061016.0 | CN:0 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v3 | 8 | |
375 | 191 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v3 | 8 | |
376 | 191 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v3 | 8 | |
377 | 192 | RE | ALK | likely | rearrangement | ALK-TRMT61B rearrangement | none | chr2:29448385 | SR:9 | PEDIATRIC | F | CARCINOMA | Unknown | v3 | 18 | |
378 | 194 | CN | NF1 | likely | deletion | deletion | NM_001042492 | chr17:29576069.0 | CN:0 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v3 | 18 | |
379 | 194 | CN | RPTOR | likely | amplification | amplification | NM_020761 | chr17:78862231.0 | CN:6 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v3 | 18 | |
380 | 194 | SV | PIK3CA | likely | point | H1047R | 1047 | NM_006218 | chr3:178952085 | AF:0.37; DP:551 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v3 | 18 |
381 | 195 | RE | IGF1R | likely | rearrangement | IGF1R-RASGRF1 fusion | none | chr15:99472824 | SR:37 | PEDIATRIC | F | SARCOMA | Hemangioma | v3 | 0 | |
382 | 196 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:311 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 3 | |
383 | 198 | SV | ATR | likely | point | E2479K | 2479 | NM_001184 | chr3:142177868 | AF:0.32; DP:728 | PEDIATRIC | F | HEME | Lymphoma | v2 | 11 |
384 | 198 | SV | BRCA2 | likely | truncation | H1932fs*12 | 1932 | NM_000059 | chr13:32914287 | AF:0.28; DP:1073 | PEDIATRIC | F | HEME | Lymphoma | v2 | 11 |
385 | 200 | CN | CDK6 | likely | amplification | amplification | NM_001259 | chr7:92300794.0 | CN:8 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 2 | |
386 | 200 | CN | HGF | likely | amplification | amplification | NM_000601 | chr7:81355269.0 | CN:8 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 2 | |
387 | 200 | CN | RPTOR | likely | amplification | amplification | NM_020761 | chr17:78862231.0 | CN:9 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 2 | |
388 | 200 | SV | NOTCH1 | likely | point | V1599M | 1599 | NM_017617 | chr9:139399348 | AF:0.64; DP:279 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 2 |
389 | 201 | RE | BCOR | likely | truncation | BCOR truncation | none | chrX:39932871 | SR:114 | PEDIATRIC | M | BRAIN | Astrocytoma | v2 | 13 | |
390 | 202 | CN | CDK4 | likely | amplification | amplification | NM_000075 | chr12:58144493.0 | CN:82 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 12 | |
391 | 202 | CN | ATRX | likely | deletion | deletion | NM_000489 | chrX:76889127.0 | CN:0 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 12 | |
392 | 202 | SV | ARID1A | likely | point | R1950Q | 1950 | NM_006015 | chr1:27106238 | AF:0.5; DP:648 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 12 |
393 | 202 | SV | FGFR1 | likely | point | N546K | 546 | NM_023110 | chr8:38274849 | AF:0.25; DP:754 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 12 |
394 | 203 | CN | MCL1 | likely | amplification | amplification | NM_182763 | chr1:150550843.0 | CN:6 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 1 | |
395 | 205 | SV | ASXL1 | likely | truncation | G646fs*12 | 646 | NM_015338 | chr20:31022449 | AF:0.2; DP:549 | PEDIATRIC | M | HEME | AML | v3 | 8 |
396 | 205 | SV | NF1 | likely | truncation | I679fs*21 | 679 | NM_001042492 | chr17:29553484 | AF:0.37; DP:467 | PEDIATRIC | M | HEME | AML | v3 | 8 |
397 | 205 | SV | RUNX1 | likely | truncation | R201* | 201 | NM_001754 | chr21:36231783 | AF:0.6; DP:724 | PEDIATRIC | M | HEME | AML | v3 | 8 |
398 | 205 | SV | NF1 | likely | truncation | D946fs*1 | 946 | NM_001042492 | chr17:29556468 | AF:0.38; DP:357 | PEDIATRIC | M | HEME | AML | v3 | 8 |
399 | 206 | CN | MDM4 | likely | amplification | amplification | NM_002393 | chr1:204506988.0 | CN:7 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v3 | 3 | |
400 | 206 | SV | CTNNB1 | likely | point | D32V | 32 | NM_001904 | chr3:41266098 | AF:0.27; DP:655 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v3 | 3 |
401 | 206 | SV | CTNNB1 | likely | point | S29F | 29 | NM_001904 | chr3:41266089 | AF:0.27; DP:649 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v3 | 3 |
402 | 207 | SV | ALK | likely | point | F1174V | 1174 | NM_004304 | chr2:29443697 | AF:0.01; DP:447 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 1 |
403 | 208 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:491 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 10 | |
404 | 209 | CN | HGF | likely | amplification | amplification | NM_000601 | chr7:81355269.0 | CN:10 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 3 | |
405 | 210 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:13 | PEDIATRIC | M | CARCINOMA | HCC | v3 | 2 | |
406 | 210 | SV | APC | likely | point | I1307K | 1307 | NM_000038 | chr5:112175211 | AF:0.49; DP:663 | PEDIATRIC | M | CARCINOMA | HCC | v3 | 2 |
407 | 210 | SV | MPL | likely | point | P106L | 106 | NM_005373 | chr1:43804317 | AF:0.52; DP:560 | PEDIATRIC | M | CARCINOMA | HCC | v3 | 2 |
408 | 210 | SV | CTNNB1 | likely | point | I35S | 35 | NM_001904 | chr3:41266107 | AF:0.16; DP:783 | PEDIATRIC | M | CARCINOMA | HCC | v3 | 2 |
409 | 211 | CN | FGFR2 | likely | amplification | amplification | NM_000141 | chr10:123263379.0 | CN:7 | PEDIATRIC | M | SARCOMA | DSRC | v2 | 17 | |
410 | 213 | CN | MAP3K14 | likely | amplification | amplification | NM_003954 | chr17:43350922.0 | CN:11 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 6 | |
411 | 213 | CN | RPTOR | likely | amplification | amplification | NM_020761 | chr17:78862231.0 | CN:11 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 6 | |
412 | 214 | SV | TP53 | likely | point | R248Q | 248 | NM_000546 | chr17:7577538 | AF:0.76; DP:539 | PEDIATRIC | M | BRAIN | Glioma | v3 | 0 |
413 | 215 | SV | CTNNB1 | likely | point | S45F | 45 | NM_001904 | chr3:41266137 | AF:0.43; DP:851 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v3 | 0 |
414 | 216 | SV | PTCH1 | likely | truncation | R459fs*38 | 459 | NM_000264 | chr9:98239956 | AF:0.92; DP:523 | PEDIATRIC | F | BRAIN | Medulloblastoma | v3 | 2 |
415 | 217 | SV | ATRX | likely | truncation | K1227* | 1227 | NM_000489 | chrX:76937069 | AF:0.58; DP:488 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 5 |
416 | 217 | SV | EPHA5 | likely | point | G420S | 420 | NM_004439 | chr4:66356239 | AF:0.49; DP:828 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 5 |
417 | 217 | SV | CIC | likely | truncation | A938fs*8 | 938 | NM_015125 | chr19:42795822 | AF:0.26; DP:184 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 5 |
418 | 217 | SV | CIC | likely | truncation | splice | NM_015125 | chr19:42795708 | AF:0.11; DP:286 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 5 | |
419 | 218 | SV | FBXW7 | likely | truncation | Y519* | 519 | NM_033632 | chr4:153247245 | AF:0.47; DP:875 | PEDIATRIC | F | HEME | AML | v3 | 12 |
420 | 218 | SV | FLT3 | likely | point | V581_T582insTGSSDNEYFYVDFREYEYALSG | 581 | NM_004119 | chr13:28608313 | AF:0.37; DP:1482 | PEDIATRIC | F | HEME | AML | v3 | 12 |
421 | 218 | SV | NPM1 | likely | truncation | W288fs*10+ | 288 | NM_002520 | chr5:170837547 | AF:0.36; DP:402 | PEDIATRIC | F | HEME | AML | v3 | 12 |
422 | 219 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | BRAIN | Astrocytoma | v3 | 6 | |
423 | 219 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | BRAIN | Astrocytoma | v3 | 6 | |
424 | 219 | RE | RAF1 | likely | rearrangement | RAF1-ATG7 fusion | none | chr3:12645590 | SR:41 | PEDIATRIC | M | BRAIN | Astrocytoma | v3 | 6 | |
425 | 220 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | SARCOMA | Soft tissue assorted | v3 | 1 | |
426 | 220 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | SARCOMA | Soft tissue assorted | v3 | 1 | |
427 | 220 | SV | ARID1A | likely | point | A343_A348>A | 343 | NM_006015 | chr1:27023922 | AF:0.43; DP:368 | PEDIATRIC | M | SARCOMA | Soft tissue assorted | v3 | 1 |
428 | 220 | SV | MAP2K1 | likely | point | F53_Q58>L | 53 | NM_002755 | chr15:66727442 | AF:0.17; DP:1232 | PEDIATRIC | M | SARCOMA | Soft tissue assorted | v3 | 1 |
429 | 221 | RE | EWSR1 | likely | rearrangement | EWSR1-CREB3L1 fusion | none | chr22:29684747 | SR:17 | PEDIATRIC | M | SARCOMA | RMS | v3 | 15 | |
430 | 222 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:10 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v3 | 5 | |
431 | 222 | SV | TP53 | likely | point | R342P | 342 | NM_000546 | chr17:7574002 | AF:0.91; DP:726 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v3 | 5 |
432 | 222 | SV | TSC2 | likely | point | A607T | 607 | NM_000548 | chr16:2120559 | AF:0.95; DP:533 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v3 | 5 |
433 | 222 | SV | CTNNB1 | likely | point | W383R | 383 | NM_001904 | chr3:41274897 | AF:0.59; DP:2058 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v3 | 5 |
434 | 223 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:124 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 6 | |
435 | 223 | CN | STAG2 | likely | deletion | deletion | NM_006603 | chrX:123197010.0 | CN:0 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 6 | |
436 | 224 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:164 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 1 | |
437 | 224 | SV | BRIP1 | likely | truncation | R798* | 798 | NM_032043 | chr17:59793412 | AF:0.33; DP:908 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 1 |
438 | 225 | CN | HGF | likely | amplification | amplification | NM_000601 | chr7:81355269.0 | CN:8 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 3 | |
439 | 225 | SV | APC | likely | truncation | S2088* | 2088 | NM_000038 | chr5:112177554 | AF:0.47; DP:783 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 3 |
440 | 226 | CN | BRAF | likely | amplification | amplification | NM_004333 | chr7:140485129.0 | CN:10 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 11 | |
441 | 226 | CN | HGF | likely | amplification | amplification | NM_000601 | chr7:81355269.0 | CN:13 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 11 | |
442 | 226 | CN | CDK6 | likely | amplification | amplification | NM_001259 | chr7:92300794.0 | CN:10 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 11 | |
443 | 229 | SV | APC | likely | point | I1307K | 1307 | NM_000038 | chr5:112175211 | AF:0.35; DP:1207 | PEDIATRIC | M | BRAIN | Medulloblastoma | v2 | 5 |
444 | 229 | SV | PTEN | likely | truncation | splice | NM_000314 | chr10:89690801 | AF:0.12; DP:743 | PEDIATRIC | M | BRAIN | Medulloblastoma | v2 | 5 | |
445 | 229 | SV | SMARCA4 | likely | point | T910M | 910 | NM_003072 | chr19:11132513 | AF:0.47; DP:803 | PEDIATRIC | M | BRAIN | Medulloblastoma | v2 | 5 |
446 | 230 | SV | CIC | likely | truncation | V27fs*11 | 27 | NM_015125 | chr19:42790934 | AF:0.31; DP:329 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 8 |
447 | 231 | SV | CTNNB1 | likely | point | T41A | 41 | NM_001904 | chr3:41266124 | AF:0.37; DP:967 | PEDIATRIC | F | SARCOMA | Fibromatosis | v2 | 11 |
448 | 234 | SV | ALK | likely | point | R1275Q | 1275 | NM_004304 | chr2:29432664 | AF:0.02; DP:606 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 13 |
449 | 234 | SV | FANCM | likely | truncation | R658* | 658 | NM_020937 | chr14:45636336 | AF:0.48; DP:534 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v3 | 13 |
450 | 236 | RE | CAMTA1 | likely | rearrangement | CAMTA1-WWTR1 fusion | none | chr1:7723436 | SR:303 | PEDIATRIC | M | SARCOMA | Hemangioendothelioma | v4 | 17 | |
451 | 236 | SV | LRRK2 | likely | point | V2495I | 2495 | NM_198578 | chr12:40761466 | AF:0.48; DP:686 | PEDIATRIC | M | SARCOMA | Hemangioendothelioma | v4 | 17 |
452 | 237 | RE | BRAF | likely | rearrangement | BRAF-BCAS1 fusion | none | chr7:140482826 | SR:64 | PEDIATRIC | F | BRAIN | Astrocytoma | v3 | 18 | |
453 | 237 | SV | SETD2 | likely | truncation | S1390* | 1390 | NM_014159 | chr3:47161957 | AF:0.14; DP:568 | PEDIATRIC | F | BRAIN | Astrocytoma | v3 | 18 |
454 | 238 | CN | CDK4 | likely | amplification | amplification | NM_000075 | chr12:58144493.0 | CN:29 | PEDIATRIC | F | BRAIN | Glioblastoma | v2 | 10 | |
455 | 238 | CN | SOX2 | likely | amplification | amplification | NM_003106 | chr3:181430625.0 | CN:7 | PEDIATRIC | F | BRAIN | Glioblastoma | v2 | 10 | |
456 | 238 | SV | TP53 | likely | point | R175H | 175 | NM_000546 | chr17:7578406 | AF:0.39; DP:753 | PEDIATRIC | F | BRAIN | Glioblastoma | v2 | 10 |
457 | 238 | SV | BRCA1 | likely | truncation | N1355fs*10 | 1355 | NM_007294 | chr17:41243481 | AF:0.26; DP:817 | PEDIATRIC | F | BRAIN | Glioblastoma | v2 | 10 |
458 | 238 | SV | NF1 | likely | truncation | R1968* | 1968 | NM_001042492 | chr17:29661945 | AF:0.69; DP:740 | PEDIATRIC | F | BRAIN | Glioblastoma | v2 | 10 |
459 | 239 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | BRAIN | Astrocytoma | v2 | 11 | |
460 | 239 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | BRAIN | Astrocytoma | v2 | 11 | |
461 | 239 | SV | EGFR | likely | point | N771_P772>SVDNP | 771 | NM_005228 | chr7:55249013 | AF:0.34; DP:590 | PEDIATRIC | M | BRAIN | Astrocytoma | v2 | 11 |
462 | 239 | SV | TP53 | likely | point | I195T | 195 | NM_000546 | chr17:7578265 | AF:0.92; DP:827 | PEDIATRIC | M | BRAIN | Astrocytoma | v2 | 11 |
463 | 240 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | BRAIN | Ependymoma | v4 | 16 | |
464 | 241 | SV | MUTYH | likely | point | Y165C | 165 | NM_001048171 | chr1:45798475 | AF:0.49; DP:573 | PEDIATRIC | M | CARCINOMA | Head and neck | v4 | 13 |
465 | 242 | CN | HGF | likely | amplification | amplification | NM_000601 | chr7:81355269.0 | CN:6 | PEDIATRIC | M | BRAIN | Medulloblastoma | v4 | 14 | |
466 | 242 | SV | CREBBP | likely | truncation | Y1417* | 1417 | NM_004380 | chr16:3789608 | AF:0.47; DP:222 | PEDIATRIC | M | BRAIN | Medulloblastoma | v4 | 14 |
467 | 243 | SV | NF1 | likely | truncation | D1217fs*1 | 1217 | NM_001042492 | chr17:29560170 | AF:0.8; DP:394 | PEDIATRIC | F | SARCOMA | Soft tissue assorted | v4 | 0 |
468 | 244 | SV | MAP3K1 | likely | point | R306H | 306 | NM_005921 | chr5:56160643 | AF:0.5; DP:662 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 2 |
469 | 246 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 15 | |
470 | 246 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 15 | |
471 | 246 | SV | BRAF | likely | point | V600E | 600 | NM_004333 | chr7:140453136 | AF:0.02; DP:460 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 15 |
472 | 246 | SV | TP53 | likely | point | R175H | 175 | NM_000546 | chr17:7578406 | AF:0.64; DP:469 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 15 |
473 | 246 | SV | BRAF | likely | point | D594G | 594 | NM_004333 | chr7:140453154 | AF:0.03; DP:431 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 15 |
474 | 248 | RE | FOXO1 | likely | rearrangement | FOXO1-PAX3 fusion | none | chr13:41134903 | SR:105 | PEDIATRIC | M | SARCOMA | RMS | v4 | 1 | |
475 | 249 | SV | NOD1 | likely | truncation | Q341* | 341 | NM_006092 | chr7:30492012 | AF:0.49; DP:559 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 11 |
476 | 250 | CN | ATRX | likely | deletion | deletion | NM_000489 | chrX:76889127.0 | CN:0 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 4 | |
477 | 251 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:267 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 2 | |
478 | 251 | SV | FGFR1 | likely | point | N546K | 546 | NM_023110 | chr8:38274849 | AF:0.49; DP:368 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 2 |
479 | 251 | SV | EGFR | likely | truncation | C187fs*2 | 187 | NM_005228 | chr7:55218986 | AF:0.41; DP:384 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 2 |
480 | 252 | CN | ERBB4 | likely | amplification | amplification | NM_005235 | chr2:212534036.0 | CN:8 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v4 | 12 | |
481 | 253 | SV | NRAS | likely | point | Q61R | 61 | NM_002524 | chr1:115256529 | AF:0.83; DP:639 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 7 |
482 | 254 | CN | NFKBIA | likely | amplification | amplification | NM_020529 | chr14:35872220.0 | CN:9 | PEDIATRIC | F | SARCOMA | MPNST | v4 | 3 | |
483 | 254 | CN | MCL1 | likely | amplification | amplification | NM_182763 | chr1:150550843.0 | CN:12 | PEDIATRIC | F | SARCOMA | MPNST | v4 | 3 | |
484 | 256 | SV | NCOR2 | likely | truncation | P2484fs*40+ | 2484 | NM_006312 | chr12:124810069 | AF:0.08; DP:366 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v4 | 14 |
485 | 256 | SV | WT1 | likely | truncation | F391fs*6 | 391 | NM_024426 | chr11:32417881 | AF:0.33; DP:538 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v4 | 14 |
486 | 256 | SV | CD36 | likely | truncation | splice | NM_000072 | chr7:80299265 | AF:0.27; DP:844 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v4 | 14 | |
487 | 257 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | BRAIN | Astrocytoma | v4 | 1 | |
488 | 257 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | BRAIN | Astrocytoma | v4 | 1 | |
489 | 257 | RE | BRAF | likely | rearrangement | BRAF-CCDC6 fusion | none | chr7:140482910 | SR:184 | PEDIATRIC | M | BRAIN | Astrocytoma | v4 | 1 | |
490 | 258 | SV | MAP3K7 | likely | point | N463S | 463 | NM_003188 | chr6:91229032 | AF:0.55; DP:302 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v4 | 17 |
491 | 259 | RE | CREBBP | likely | truncation | CREBBP deletion | none | chr16:3823731 | SR:31 | PEDIATRIC | M | HEME | AML | v4 | 15 | |
492 | 259 | SV | PHF6 | likely | point | H329R | 329 | NM_032458 | chrX:133559248 | AF:0.85; DP:311 | PEDIATRIC | M | HEME | AML | v4 | 15 |
493 | 259 | SV | ASXL1 | likely | truncation | G646fs*12 | 646 | NM_015338 | chr20:31022449 | AF:0.26; DP:281 | PEDIATRIC | M | HEME | AML | v4 | 15 |
494 | 261 | CN | MCL1 | likely | amplification | amplification | NM_182763 | chr1:150550843.0 | CN:6 | PEDIATRIC | F | SARCOMA | ASPS | v4 | 15 | |
495 | 261 | CN | CKS1B | likely | amplification | amplification | NM_001826 | chr1:154950877.0 | CN:6 | PEDIATRIC | F | SARCOMA | ASPS | v4 | 15 | |
496 | 262 | CN | CDK6 | likely | amplification | amplification | NM_001259 | chr7:92300794.0 | CN:6 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 2 | |
497 | 264 | CN | FGFR2 | likely | amplification | amplification | NM_000141 | chr10:123263379.0 | CN:103 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v4 | 7 | |
498 | 264 | SV | IDH2 | likely | point | A47V | 47 | NM_002168 | chr15:90634852 | AF:0.47; DP:511 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v4 | 7 |
499 | 264 | SV | TP53 | likely | point | S240R | 240 | NM_000546 | chr17:7577561 | AF:0.83; DP:315 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v4 | 7 |
500 | 265 | CN | KRAS | likely | amplification | amplification | NM_004985 | chr12:25378627.0 | CN:8 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 17 | |
501 | 265 | SV | SUZ12 | likely | truncation | splice | NM_015355 | chr17:30264540 | AF:0.69; DP:177 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 17 | |
502 | 265 | SV | TP53 | likely | point | T256K | 256 | NM_000546 | chr17:7577514 | AF:0.56; DP:550 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 17 |
503 | 266 | SV | NRAS | likely | point | P185S | 185 | NM_002524 | chr1:115251173 | AF:0.63; DP:848 | PEDIATRIC | F | CARCINOMA | HCC | v2 | 13 |
504 | 267 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | HEME | ALL | v4 | 9 | |
505 | 267 | CN | MSH2 | likely | deletion | deletion | NM_000251 | chr2:47693872.0 | CN:0 | PEDIATRIC | F | HEME | ALL | v4 | 9 | |
506 | 267 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | HEME | ALL | v4 | 9 | |
507 | 267 | RE | ETV6 | likely | rearrangement | ETV6-RUNX1 fusion | none | chr12:12022630 | SR:651 | PEDIATRIC | F | HEME | ALL | v4 | 9 | |
508 | 267 | SV | TP53 | likely | point | R175H | 175 | NM_000546 | chr17:7578406 | AF:0.04; DP:496 | PEDIATRIC | F | HEME | ALL | v4 | 9 |
509 | 267 | SV | TP53 | likely | point | R248Q | 248 | NM_000546 | chr17:7577538 | AF:0.03; DP:558 | PEDIATRIC | F | HEME | ALL | v4 | 9 |
510 | 267 | SV | TP53 | likely | point | G245A | 245 | NM_000546 | chr17:7577547 | AF:0.07; DP:547 | PEDIATRIC | F | HEME | ALL | v4 | 9 |
511 | 267 | SV | TP53 | likely | point | R267Q | 267 | NM_000546 | chr17:7577138 | AF:0.03; DP:660 | PEDIATRIC | F | HEME | ALL | v4 | 9 |
512 | 267 | SV | FLT4 | likely | point | G781S | 781 | NM_002020 | chr5:180047674 | AF:0.03; DP:468 | PEDIATRIC | F | HEME | ALL | v4 | 9 |
513 | 267 | SV | KRAS | likely | point | V14I | 14 | NM_004985 | chr12:25398279 | AF:0.06; DP:439 | PEDIATRIC | F | HEME | ALL | v4 | 9 |
514 | 267 | SV | ARHGAP26 | likely | point | E565K | 565 | NM_015071 | chr5:142500707 | AF:0.02; DP:463 | PEDIATRIC | F | HEME | ALL | v4 | 9 |
515 | 267 | SV | FGF6 | likely | point | V127M | 127 | NM_020996 | chr12:4553370 | AF:0.02; DP:499 | PEDIATRIC | F | HEME | ALL | v4 | 9 |
516 | 268 | SV | CUX1 | likely | point | L652V | 652 | NM_001202543 | chr7:101842108 | AF:0.54; DP:646 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 3 |
517 | 269 | SV | CDKN2A | likely | truncation | K85fs*13 | 85 | NM_058197 | chr9:21974571 | AF:0.34; DP:532 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 0 |
518 | 272 | CN | BRAF | likely | amplification | amplification | NM_004333 | chr7:140485129.0 | CN:6 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v2 | 0 | |
519 | 272 | SV | TP53 | likely | truncation | R342* | 342 | NM_000546 | chr17:7574003 | AF:0.75; DP:637 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v2 | 0 |
520 | 272 | SV | CIC | likely | truncation | Q1281fs*59 | 1281 | NM_015125 | chr19:42797787 | AF:0.06; DP:741 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v2 | 0 |
521 | 272 | SV | MLL2 | likely | truncation | W315fs*1 | 315 | NM_003482 | chr12:49446999 | AF:0.49; DP:728 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v2 | 0 |
522 | 272 | SV | TSC2 | likely | truncation | W358* | 358 | NM_000548 | chr16:2110768 | AF:0.5; DP:647 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v2 | 0 |
523 | 273 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:330 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 3 | |
524 | 273 | SV | FLT1 | likely | point | R238C | 238 | NM_002019 | chr13:29008057 | AF:0.5; DP:444 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 3 |
525 | 273 | SV | ALK | likely | point | F1245C | 1245 | NM_004304 | chr2:29436859 | AF:0.37; DP:924 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 3 |
526 | 274 | SV | CD36 | likely | truncation | N53fs*24 | 53 | NM_000072 | chr7:80285892 | AF:0.44; DP:612 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 11 |
527 | 275 | CN | IGF1 | likely | amplification | amplification | NM_001111283 | chr12:102841444.0 | CN:10 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v4 | 6 | |
528 | 275 | CN | MDM2 | likely | amplification | amplification | NM_002392 | chr12:69218176.0 | CN:18 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v4 | 6 | |
529 | 275 | CN | NF1 | likely | deletion | deletion | NM_001042492 | chr17:29576069.0 | CN:0 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v4 | 6 | |
530 | 275 | SV | ATM | likely | truncation | splice | NM_000051 | chr11:108119830 | AF:0.26; DP:418 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v4 | 6 | |
531 | 275 | SV | RAF1 | likely | point | S257L | 257 | NM_002880 | chr3:12645699 | AF:0.35; DP:467 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v4 | 6 |
532 | 276 | RE | FOXO1 | likely | rearrangement | FOXO1-PAX3 fusion | none | chr13:41134892 | SR:83 | PEDIATRIC | F | SARCOMA | RMS | v4 | 3 | |
533 | 277 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:72 | PEDIATRIC | F | SARCOMA | RMS | v2 | 15 | |
534 | 277 | CN | FGFR4 | likely | amplification | amplification | NM_002011 | chr5:176520601.0 | CN:6 | PEDIATRIC | F | SARCOMA | RMS | v2 | 15 | |
535 | 278 | SV | SETBP1 | likely | point | S869N | 869 | NM_015559 | chr18:42531911 | AF:0.11; DP:743 | PEDIATRIC | F | BRAIN | Ependymoma | v4 | 4 |
536 | 278 | SV | PASK | likely | point | R298K | 298 | NM_015148 | chr2:242076663 | AF:0.51; DP:408 | PEDIATRIC | F | BRAIN | Ependymoma | v4 | 4 |
537 | 281 | SV | IDH1 | likely | point | R132C | 132 | NM_005896 | chr2:209113113 | AF:0.45; DP:422 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 17 |
538 | 281 | SV | ATRX | likely | truncation | F2113fs*9 | 2113 | NM_000489 | chrX:76814306 | AF:0.39; DP:202 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 17 |
539 | 281 | SV | TP53 | likely | point | R273C | 273 | NM_000546 | chr17:7577121 | AF:0.93; DP:442 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 17 |
540 | 282 | CN | CCNE1 | likely | amplification | amplification | NM_001238 | chr19:30312185.0 | CN:11 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 16 | |
541 | 282 | CN | CCND3 | likely | amplification | amplification | NM_001136017 | chr6:41905052.0 | CN:26 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 16 | |
542 | 282 | RE | NOD1 | likely | rearrangement | NOD1-MARCH1 rearrangement | none | chr7:30490850 | SR:39 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 16 | |
543 | 283 | SV | NRAS | likely | point | Q61R | 61 | NM_002524 | chr1:115256529 | AF:0.65; DP:668 | PEDIATRIC | F | SARCOMA | Fibrosarcoma | v4 | 16 |
544 | 283 | SV | ARID1A | likely | truncation | I1625fs*6 | 1625 | NM_006015 | chr1:27101592 | AF:0.27; DP:477 | PEDIATRIC | F | SARCOMA | Fibrosarcoma | v4 | 16 |
545 | 285 | CN | MDM4 | likely | amplification | amplification | NM_002393 | chr1:204506988.0 | CN:12 | PEDIATRIC | F | CARCINOMA | Other | v4 | 9 | |
546 | 285 | RE | TRG | likely | rearrangement | TRG-CELF4 rearrangement | none | chr7:38297117 | SR:82 | PEDIATRIC | F | CARCINOMA | Other | v4 | 9 | |
547 | 285 | RE | TRG | likely | rearrangement | TRG-MYL12B rearrangement | none | chr7:38297646 | SR:54 | PEDIATRIC | F | CARCINOMA | Other | v4 | 9 | |
548 | 285 | RE | TRG | likely | rearrangement | TRG-ELMO1 rearrangement | none | chr7:38297987 | SR:102 | PEDIATRIC | F | CARCINOMA | Other | v4 | 9 | |
549 | 286 | CN | MYST3 | likely | amplification | amplification | NM_006766 | chr8:41809844.0 | CN:13 | PEDIATRIC | F | CARCINOMA | Gyn carcinoma | v2 | 16 | |
550 | 287 | CN | JUN | likely | amplification | amplification | NM_002228 | chr1:59248244.0 | CN:6 | PEDIATRIC | M | BRAIN | Glioblastoma | v4 | 5 | |
551 | 287 | CN | SOX2 | likely | amplification | amplification | NM_003106 | chr3:181430625.0 | CN:6 | PEDIATRIC | M | BRAIN | Glioblastoma | v4 | 5 | |
552 | 287 | SV | ATM | likely | point | R3008C | 3008 | NM_000051 | chr11:108236086 | AF:0.07; DP:286 | PEDIATRIC | M | BRAIN | Glioblastoma | v4 | 5 |
553 | 287 | SV | BCORL1 | likely | truncation | R1420* | 1420 | NM_021946 | chrX:129162789 | AF:0.76; DP:128 | PEDIATRIC | M | BRAIN | Glioblastoma | v4 | 5 |
554 | 289 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:77 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 2 | |
555 | 289 | CN | ALK | likely | amplification | amplification | NM_004304 | chr2:29455242.0 | CN:20 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 2 | |
556 | 290 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | HEME | AML | v4 | 11 | |
557 | 290 | RE | MLL | likely | rearrangement | MLL-MLLT3 fusion | none | chr11:118355633 | SR:65 | PEDIATRIC | F | HEME | AML | v4 | 11 | |
558 | 290 | SV | KRAS | likely | point | Q61H | 61 | NM_004985 | chr12:25380275 | AF:0.5; DP:541 | PEDIATRIC | F | HEME | AML | v4 | 11 |
559 | 290 | SV | CREBBP | likely | truncation | R1810fs*156 | 1810 | NM_004380 | chr16:3779623 | AF:0.45; DP:532 | PEDIATRIC | F | HEME | AML | v4 | 11 |
560 | 291 | RE | MLL | likely | rearrangement | MLL-AFF1 fusion | none | chr11:118355616 | SR:1919 | PEDIATRIC | M | HEME | ALL | v4 | 1 | |
561 | 291 | SV | BRCA2 | likely | point | R2787H | 2787 | NM_000059 | chr13:32944567 | AF:0.25; DP:450 | PEDIATRIC | M | HEME | ALL | v4 | 1 |
562 | 291 | SV | NRAS | likely | point | Q61R | 61 | NM_002524 | chr1:115256529 | AF:0.38; DP:448 | PEDIATRIC | M | HEME | ALL | v4 | 1 |
563 | 291 | SV | CDKN2A | likely | truncation | R80* | 80 | NM_000077 | chr9:21971120 | AF:0.05; DP:334 | PEDIATRIC | M | HEME | ALL | v4 | 1 |
564 | 291 | SV | TP53 | likely | point | R248Q | 248 | NM_000546 | chr17:7577538 | AF:0.78; DP:521 | PEDIATRIC | M | HEME | ALL | v4 | 1 |
565 | 291 | SV | EGFR | likely | truncation | K479fs*13 | 479 | NM_005228 | chr7:55227969 | AF:0.1; DP:467 | PEDIATRIC | M | HEME | ALL | v4 | 1 |
566 | 291 | SV | MLH1 | likely | truncation | splice site 790+1G>A | NM_000249 | chr3:37056036 | AF:0.38; DP:324 | PEDIATRIC | M | HEME | ALL | v4 | 1 | |
567 | 291 | SV | NCOR1 | likely | truncation | R1028* | 1028 | NM_006311 | chr17:15989691 | AF:0.35; DP:445 | PEDIATRIC | M | HEME | ALL | v4 | 1 |
568 | 291 | SV | PTPN6 | likely | truncation | R286* | 286 | NM_080549 | chr12:7065316 | AF:0.36; DP:555 | PEDIATRIC | M | HEME | ALL | v4 | 1 |
569 | 292 | CN | CCND3 | likely | amplification | amplification | NM_001136017 | chr6:41905052.0 | CN:17 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 | |
570 | 292 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:9 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 | |
571 | 292 | CN | TNFRSF11A | likely | amplification | amplification | NM_003839 | chr18:60027235.0 | CN:8 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 | |
572 | 292 | CN | FGF10 | likely | amplification | amplification | NM_004465 | chr5:44310580.0 | CN:8 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 | |
573 | 292 | CN | RICTOR | likely | amplification | amplification | NM_152756 | chr5:38960567.0 | CN:8 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 | |
574 | 292 | CN | MDM2 | likely | amplification | amplification | NM_002392 | chr12:69218176.0 | CN:8 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 | |
575 | 292 | CN | IGF1R | likely | amplification | amplification | NM_000875 | chr15:99465518.0 | CN:19 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 | |
576 | 292 | CN | C17orf39 | likely | amplification | amplification | NM_024052 | chr17:17959863.0 | CN:13 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 | |
577 | 292 | CN | KRAS | likely | amplification | amplification | NM_004985 | chr12:25378627.0 | CN:10 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 | |
578 | 292 | CN | CDK4 | likely | amplification | amplification | NM_000075 | chr12:58144493.0 | CN:65 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 | |
579 | 292 | CN | ERBB3 | likely | amplification | amplification | NM_001982 | chr12:56488089.0 | CN:31 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 | |
580 | 293 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | HEME | ALL | v4 | 3 | |
581 | 293 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | HEME | ALL | v4 | 3 | |
582 | 293 | RE | IGH | likely | rearrangement | IGH-N/A rearrangement | none | chr14:106330377 | SR:101 | PEDIATRIC | F | HEME | ALL | v4 | 3 | |
583 | 293 | SV | MLL | likely | point | Q3042H | 3042 | NM_005933 | chr11:118375742 | AF:0.3; DP:740 | PEDIATRIC | F | HEME | ALL | v4 | 3 |
584 | 293 | SV | MED12 | likely | point | V1588M | 1588 | NM_005120 | chrX:70354597 | AF:0.05; DP:571 | PEDIATRIC | F | HEME | ALL | v4 | 3 |
585 | 293 | SV | CREBBP | likely | point | R1446H | 1446 | NM_004380 | chr16:3788617 | AF:0.44; DP:435 | PEDIATRIC | F | HEME | ALL | v4 | 3 |
586 | 293 | SV | NRAS | likely | point | G12S | 12 | NM_002524 | chr1:115258748 | AF:0.43; DP:507 | PEDIATRIC | F | HEME | ALL | v4 | 3 |
587 | 293 | SV | TP53 | likely | point | R267P | 267 | NM_000546 | chr17:7577138 | AF:0.02; DP:672 | PEDIATRIC | F | HEME | ALL | v4 | 3 |
588 | 293 | SV | TP53 | likely | truncation | T284fs*62 | 284 | NM_000546 | chr17:7577092 | AF:0.06; DP:705 | PEDIATRIC | F | HEME | ALL | v4 | 3 |
589 | 294 | RE | EWSR1 | likely | rearrangement | EWSR1-KLF15 fusion | none | chr22:29684684 | SR:191 | PEDIATRIC | M | SARCOMA | Soft tissue (NOS) | v4 | 0 | |
590 | 294 | SV | ICK | likely | point | P369_L372del | 369 | NM_016513 | chr6:52878496 | AF:0.45; DP:610 | PEDIATRIC | M | SARCOMA | Soft tissue (NOS) | v4 | 0 |
591 | 294 | SV | MAP3K6 | likely | truncation | splice site 480+1G>A | NM_004672 | chr1:27691263 | AF:0.48; DP:495 | PEDIATRIC | M | SARCOMA | Soft tissue (NOS) | v4 | 0 | |
592 | 295 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | SARCOMA | IMTs | v2 | 18 | |
593 | 295 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | SARCOMA | IMTs | v2 | 18 | |
594 | 296 | SV | EPHB1 | likely | point | A922T | 922 | NM_004441 | chr3:134968251 | AF:0.49; DP:323 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 5 |
595 | 298 | CN | CCND1 | likely | amplification | amplification | NM_053056 | chr11:69458679.0 | CN:6 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 10 | |
596 | 298 | CN | FGF19 | likely | amplification | amplification | NM_005117 | chr11:69518080.0 | CN:6 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 10 | |
597 | 298 | CN | FGF3 | likely | amplification | amplification | NM_005247 | chr11:69631139.0 | CN:6 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 10 | |
598 | 298 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:8 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 10 | |
599 | 298 | CN | ALK | likely | amplification | amplification | NM_004304 | chr2:29455242.0 | CN:6 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 10 | |
600 | 298 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 10 | |
601 | 298 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 10 | |
602 | 299 | SV | ZRSR2 | likely | point | R448_R449insSR | 448 | NM_005089 | chrX:15841259 | AF:0.46; DP:298 | PEDIATRIC | M | SARCOMA | Soft tissue assorted | v4 | 17 |
603 | 299 | SV | CD36 | likely | truncation | splice site 430-2A>G | NM_000072 | chr7:80292304 | AF:0.49; DP:535 | PEDIATRIC | M | SARCOMA | Soft tissue assorted | v4 | 17 | |
604 | 300 | RE | FOXO1 | likely | rearrangement | FOXO1-PAX3 fusion | none | chr13:41134892 | SR:460 | PEDIATRIC | M | SARCOMA | RMS | v4 | 0 | |
605 | 301 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:6 | PEDIATRIC | M | SARCOMA | RMS | v4 | 7 | |
606 | 301 | SV | FGFR4 | likely | point | V510M | 510 | NM_022963 | chr5:176522551 | AF:0.9; DP:329 | PEDIATRIC | M | SARCOMA | RMS | v4 | 7 |
607 | 301 | SV | MSH3 | likely | truncation | Y921fs*36 | 921 | NM_002439 | chr5:80109506 | AF:0.5; DP:492 | PEDIATRIC | M | SARCOMA | RMS | v4 | 7 |
608 | 301 | SV | CD22 | likely | point | D619N | 619 | NM_001771 | chr19:35832688 | AF:0.08; DP:515 | PEDIATRIC | M | SARCOMA | RMS | v4 | 7 |
609 | 303 | SV | KRAS | likely | point | A146T | 146 | NM_004985 | chr12:25378562 | AF:0.49; DP:774 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 8 |
610 | 303 | SV | SETD2 | likely | point | D1179H | 1179 | NM_014159 | chr3:47162591 | AF:0.02; DP:378 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 8 |
611 | 303 | SV | MAP2K4 | likely | truncation | M1fs*46 | 1 | NM_003010 | chr17:11924205 | AF:0.13; DP:253 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 8 |
612 | 303 | SV | NOTCH2 | likely | truncation | E366* | 366 | NM_024408 | chr1:120512146 | AF:0.21; DP:487 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 8 |
613 | 305 | SV | MSH6 | likely | point | V509A | 509 | NM_000179 | chr2:48026648 | AF:0.52; DP:735 | PEDIATRIC | F | BRAIN | Medulloblastoma | v4 | 2 |
614 | 307 | SV | KDM6A | likely | truncation | splice site 3878+2T>C | NM_021140 | chrX:44950111 | AF:0.19; DP:306 | PEDIATRIC | M | BRAIN | Medulloblastoma | v4 | 6 | |
615 | 307 | SV | KDM6A | likely | truncation | A243fs*20 | 243 | NM_021140 | chrX:44911025 | AF:0.07; DP:374 | PEDIATRIC | M | BRAIN | Medulloblastoma | v4 | 6 |
616 | 307 | SV | ERBB2 | likely | point | V773M | 773 | NM_004448 | chr17:37880988 | AF:0.63; DP:900 | PEDIATRIC | M | BRAIN | Medulloblastoma | v4 | 6 |
617 | 308 | SV | PTPN11 | likely | point | D61Y | 61 | NM_002834 | chr12:112888165 | AF:0.43; DP:562 | PEDIATRIC | M | HEME | MDS and/or MPN | v4 | 1 |
618 | 308 | SV | NOTCH4 | likely | point | P1397L | 1397 | NM_004557 | chr6:32168733 | AF:0.48; DP:614 | PEDIATRIC | M | HEME | MDS and/or MPN | v4 | 1 |
619 | 309 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | CARCINOMA | Panc/biliary | v2 | 17 | |
620 | 309 | CN | KRAS | likely | amplification | amplification | NM_004985 | chr12:25378627.0 | CN:44 | PEDIATRIC | F | CARCINOMA | Panc/biliary | v2 | 17 | |
621 | 309 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | CARCINOMA | Panc/biliary | v2 | 17 | |
622 | 309 | SV | STK11 | likely | truncation | splice site 598-2A>C | NM_000455 | chr19:1220578 | AF:0.19; DP:418 | PEDIATRIC | F | CARCINOMA | Panc/biliary | v2 | 17 | |
623 | 309 | SV | ATM | likely | truncation | S1905* | 1905 | NM_000051 | chr11:108178663 | AF:0.16; DP:856 | PEDIATRIC | F | CARCINOMA | Panc/biliary | v2 | 17 |
624 | 310 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | HEME | Leukemia (NOS) | v4 | 6 | |
625 | 310 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | HEME | Leukemia (NOS) | v4 | 6 | |
626 | 310 | RE | ETV6 | likely | rearrangement | ETV6-RUNX1 fusion | none | chr12:12035845 | SR:82 | PEDIATRIC | M | HEME | Leukemia (NOS) | v4 | 6 | |
627 | 310 | RE | STAG2 | likely | rearrangement | STAG2-STAG2 duplication | none | chrX:123224672 | SR:38 | PEDIATRIC | M | HEME | Leukemia (NOS) | v4 | 6 | |
628 | 310 | SV | TP53 | likely | point | R248Q | 248 | NM_000546 | chr17:7577538 | AF:0.19; DP:652 | PEDIATRIC | M | HEME | Leukemia (NOS) | v4 | 6 |
629 | 310 | SV | BCORL1 | likely | truncation | T477fs*58 | 477 | NM_021946 | chrX:129148176 | AF:0.22; DP:446 | PEDIATRIC | M | HEME | Leukemia (NOS) | v4 | 6 |
630 | 310 | SV | TP53 | likely | point | R175H | 175 | NM_000546 | chr17:7578406 | AF:0.18; DP:631 | PEDIATRIC | M | HEME | Leukemia (NOS) | v4 | 6 |
631 | 311 | SV | RB1 | likely | truncation | Q395* | 395 | NM_000321 | chr13:48947596 | AF:0.09; DP:570 | PEDIATRIC | M | CARCINOMA | Head and neck | v4 | 18 |
632 | 311 | SV | CD36 | likely | truncation | I317fs*36 | 317 | NM_000072 | chr7:80300423 | AF:0.41; DP:828 | PEDIATRIC | M | CARCINOMA | Head and neck | v4 | 18 |
633 | 311 | SV | APC | likely | truncation | K2386fs*16 | 2386 | NM_000038 | chr5:112178445 | AF:0.12; DP:657 | PEDIATRIC | M | CARCINOMA | Head and neck | v4 | 18 |
634 | 311 | SV | RAD51 | likely | truncation | M1fs*8 | 1 | NM_133487 | chr15:40990957 | AF:0.51; DP:573 | PEDIATRIC | M | CARCINOMA | Head and neck | v4 | 18 |
635 | 312 | SV | CD36 | likely | truncation | V401fs*4 | 401 | NM_000072 | chr7:80302672 | AF:0.48; DP:274 | PEDIATRIC | M | SARCOMA | Unknown | v4 | 2 |
636 | 313 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:131 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 4 | |
637 | 313 | SV | CPS1 | likely | truncation | G975* | 975 | NM_001875 | chr2:211504747 | AF:0.42; DP:771 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 4 |
638 | 314 | SV | NRAS | likely | point | Q61K | 61 | NM_002524 | chr1:115256530 | AF:0.59; DP:660 | PEDIATRIC | M | SARCOMA | RMS | v4 | 4 |
639 | 315 | RE | LRP1B | likely | truncation | LRP1B deletion | none | chr2:141747052 | SR:15 | PEDIATRIC | F | SARCOMA | Unknown | v4 | 17 | |
640 | 316 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | BRAIN | Glioma | v2 | 15 | |
641 | 316 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | BRAIN | Glioma | v2 | 15 | |
642 | 316 | SV | PDGFRA | likely | point | Y849C | 849 | NM_006206 | chr4:55152114 | AF:0.06; DP:589 | PEDIATRIC | M | BRAIN | Glioma | v2 | 15 |
643 | 316 | SV | TP53 | likely | truncation | R333fs*12 | 333 | NM_000546 | chr17:7574030 | AF:0.34; DP:625 | PEDIATRIC | M | BRAIN | Glioma | v2 | 15 |
644 | 316 | SV | TP53 | likely | truncation | R342* | 342 | NM_000546 | chr17:7574003 | AF:0.7; DP:619 | PEDIATRIC | M | BRAIN | Glioma | v2 | 15 |
645 | 316 | SV | ATRX | likely | truncation | Q1785* | 1785 | NM_000489 | chrX:76874369 | AF:0.64; DP:346 | PEDIATRIC | M | BRAIN | Glioma | v2 | 15 |
646 | 316 | SV | PIK3R1 | likely | point | H450_R461del | 450 | NM_181523 | chr5:67589584 | AF:0.22; DP:686 | PEDIATRIC | M | BRAIN | Glioma | v2 | 15 |
647 | 317 | RE | SS18 | likely | rearrangement | SS18-SSX2 fusion | none | chr18:23612423 | SR:17 | PEDIATRIC | F | SARCOMA | Synovial | v4 | 17 | |
648 | 318 | RE | BRAF | likely | rearrangement | BRAF-KIAA1549 fusion | none | chr7:140488233 | SR:58 | PEDIATRIC | M | BRAIN | Glioma | v4 | 8 | |
649 | 319 | SV | CTNNB1 | likely | point | T41A | 41 | NM_001904 | chr3:41266124 | AF:0.39; DP:593 | PEDIATRIC | F | SARCOMA | Fibromatosis | v4 | 16 |
650 | 319 | SV | ZRSR2 | likely | point | R449del | 449 | NM_005089 | chrX:15841259 | AF:0.16; DP:496 | PEDIATRIC | F | SARCOMA | Fibromatosis | v4 | 16 |
651 | 321 | RE | MLL | likely | rearrangement | MLL-AFF1 fusion | none | chr11:118358987 | SR:42 | PEDIATRIC | M | HEME | AML | v4 | 0 | |
652 | 323 | SV | STK11 | likely | point | F298L | 298 | NM_000455 | chr19:1221979 | AF:0.53; DP:568 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 6 |
653 | 324 | RE | BRAF | likely | rearrangement | BRAF-KIAA1549 fusion | none | chr7:140482919 | SR:42 | PEDIATRIC | M | BRAIN | Astrocytoma | v4 | 3 | |
654 | 325 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:164 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 5 | |
655 | 325 | SV | CCT6B | likely | point | V235I | 235 | NM_006584 | chr17:33269837 | AF:0.47; DP:654 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 5 |
656 | 327 | CN | CDK6 | likely | amplification | amplification | NM_001259 | chr7:92300794.0 | CN:16 | PEDIATRIC | M | BRAIN | Astrocytoma | v2 | 10 | |
657 | 327 | SV | TP53 | likely | point | R196P | 196 | NM_000546 | chr17:7578262 | AF:0.84; DP:707 | PEDIATRIC | M | BRAIN | Astrocytoma | v2 | 10 |
658 | 327 | SV | KRAS | likely | point | G13D | 13 | NM_004985 | chr12:25398281 | AF:0.03; DP:812 | PEDIATRIC | M | BRAIN | Astrocytoma | v2 | 10 |
659 | 327 | SV | SETD2 | likely | truncation | R506* | 506 | NM_014159 | chr3:47164610 | AF:0.56; DP:981 | PEDIATRIC | M | BRAIN | Astrocytoma | v2 | 10 |
660 | 327 | SV | BRAF | likely | point | G596R | 596 | NM_004333 | chr7:140453149 | AF:0.28; DP:718 | PEDIATRIC | M | BRAIN | Astrocytoma | v2 | 10 |
661 | 329 | CN | MYST3 | likely | amplification | amplification | NM_006766 | chr8:41809844.0 | CN:9 | PEDIATRIC | F | SARCOMA | RMS | v4 | 8 | |
662 | 329 | RE | NF2 | likely | truncation | NF2 deletion | none | chr22:30032742 | SR:53 | PEDIATRIC | F | SARCOMA | RMS | v4 | 8 | |
663 | 329 | SV | BCOR | likely | truncation | S569fs*53 | 569 | NM_017745 | chrX:39932893 | AF:0.25; DP:522 | PEDIATRIC | F | SARCOMA | RMS | v4 | 8 |
664 | 329 | SV | TP53 | likely | point | R249S | 249 | NM_000546 | chr17:7577534 | AF:0.5; DP:414 | PEDIATRIC | F | SARCOMA | RMS | v4 | 8 |
665 | 330 | CN | CDK4 | likely | amplification | amplification | NM_000075 | chr12:58144493.0 | CN:27 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 12 | |
666 | 330 | CN | MCL1 | likely | amplification | amplification | NM_182763 | chr1:150550843.0 | CN:8 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 12 | |
667 | 330 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:18 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 12 | |
668 | 330 | SV | MLL2 | likely | truncation | S627fs*303 | 627 | NM_003482 | chr12:49445586 | AF:0.18; DP:479 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 12 |
669 | 330 | SV | HIST1H1D | likely | truncation | K118* | 118 | NM_005320 | chr6:26234810 | AF:0.46; DP:739 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 12 |
670 | 330 | SV | CD36 | likely | truncation | splice site 609+1G>A | NM_000072 | chr7:80292486 | AF:0.46; DP:283 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 12 | |
671 | 330 | SV | TP53 | likely | truncation | splice site 993+1G>A | NM_000546 | chr17:7576852 | AF:0.29; DP:631 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 12 | |
672 | 331 | CN | MYCL1 | likely | amplification | amplification | NM_005376 | chr1:40365126.0 | CN:62 | PEDIATRIC | M | SARCOMA | RMS | v2 | 17 | |
673 | 332 | RE | KDM5A | likely | rearrangement | KDM5A-NUP98 fusion | none | chr12:402254 | SR:333 | PEDIATRIC | M | HEME | AML | v4 | 1 | |
674 | 332 | SV | CTCF | likely | point | H17R | 17 | NM_001191022 | chr16:67650729 | AF:0.29; DP:494 | PEDIATRIC | M | HEME | AML | v4 | 1 |
675 | 333 | SV | GRIN2A | likely | point | R1022H | 1022 | NM_000833 | chr16:9858336 | AF:0.1; DP:641 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 |
676 | 334 | SV | SETD2 | likely | truncation | Q7* | 7 | NM_014159 | chr3:47205396 | AF:0.58; DP:502 | PEDIATRIC | F | BRAIN | Meningioma | v2 | 4 |
677 | 337 | SV | TSC2 | likely | truncation | R458* | 458 | NM_000548 | chr16:2112983 | AF:0.79; DP:307 | PEDIATRIC | M | BRAIN | Astrocytoma | v4 | 3 |
678 | 337 | SV | TP53 | likely | point | Y107H | 107 | NM_000546 | chr17:7579368 | AF:0.51; DP:517 | PEDIATRIC | M | BRAIN | Astrocytoma | v4 | 3 |
679 | 338 | SV | ALK | likely | point | F1245V | 1245 | NM_004304 | chr2:29436860 | AF:0.38; DP:616 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 0 |
680 | 339 | CN | KRAS | likely | amplification | amplification | NM_004985 | chr12:25378627.0 | CN:6 | PEDIATRIC | F | HEME | AML | v4 | 3 | |
681 | 339 | RE | RARA | likely | rearrangement | RARA-PML fusion | none | chr17:38494436 | SR:188 | PEDIATRIC | F | HEME | AML | v4 | 3 | |
682 | 339 | SV | CD36 | likely | truncation | N53fs*24 | 53 | NM_000072 | chr7:80285892 | AF:0.27; DP:681 | PEDIATRIC | F | HEME | AML | v4 | 3 |
683 | 339 | SV | TP53 | likely | point | G245S | 245 | NM_000546 | chr17:7577548 | AF:0.38; DP:471 | PEDIATRIC | F | HEME | AML | v4 | 3 |
684 | 339 | SV | STAG2 | likely | point | R184W | 184 | NM_006603 | chrX:123179101 | AF:0.28; DP:531 | PEDIATRIC | F | HEME | AML | v4 | 3 |
685 | 340 | RE | TMPRSS2 | likely | rearrangement | TMPRSS2-DYRK1A fusion | none | chr21:42879344 | SR:447 | PEDIATRIC | F | HEME | MDS and/or MPN | v4 | 18 | |
686 | 340 | SV | CHEK2 | likely | truncation | T367fs*15 | 367 | NM_007194 | chr22:29091856 | AF:0.38; DP:253 | PEDIATRIC | F | HEME | MDS and/or MPN | v4 | 18 |
687 | 340 | SV | WT1 | likely | truncation | W146* | 146 | NM_024426 | chr11:32456454 | AF:0.06; DP:313 | PEDIATRIC | F | HEME | MDS and/or MPN | v4 | 18 |
688 | 341 | CN | ATRX | likely | deletion | deletion | NM_000489 | chrX:76889127.0 | CN:0 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 6 | |
689 | 342 | RE | EWSR1 | likely | rearrangement | EWSR1-WT1 fusion | none | chr22:29684349 | SR:78 | PEDIATRIC | F | CARCINOMA | Neuroendocrine | v4 | 7 | |
690 | 343 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:90 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 4 | |
691 | 343 | SV | ALK | likely | point | F1174L | 1174 | NM_004304 | chr2:29443695 | AF:0.4; DP:349 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 4 |
692 | 344 | CN | BAP1 | likely | deletion | deletion | NM_004656 | chr3:52440330.0 | CN:0 | PEDIATRIC | F | CARCINOMA | Upper GI | v2 | 12 | |
693 | 344 | CN | MET | likely | amplification | amplification | NM_000245 | chr7:116406510.0 | CN:10 | PEDIATRIC | F | CARCINOMA | Upper GI | v2 | 12 | |
694 | 344 | CN | CDK6 | likely | amplification | amplification | NM_001259 | chr7:92300794.0 | CN:26 | PEDIATRIC | F | CARCINOMA | Upper GI | v2 | 12 | |
695 | 344 | SV | TP53 | likely | point | R282W | 282 | NM_000546 | chr17:7577094 | AF:0.34; DP:951 | PEDIATRIC | F | CARCINOMA | Upper GI | v2 | 12 |
696 | 345 | SV | CTNNB1 | likely | point | S37F | 37 | NM_001904 | chr3:41266113 | AF:0.37; DP:989 | PEDIATRIC | F | CARCINOMA | Panc/biliary | v2 | 15 |
697 | 345 | SV | LRP1B | likely | truncation | splice | NM_018557 | chr2:142567846 | AF:0.53; DP:1150 | PEDIATRIC | F | CARCINOMA | Panc/biliary | v2 | 15 | |
698 | 345 | SV | LRP1B | likely | point | G1055R | 1055 | NM_018557 | chr2:141680690 | AF:0.48; DP:1224 | PEDIATRIC | F | CARCINOMA | Panc/biliary | v2 | 15 |
699 | 345 | SV | RAD50 | likely | truncation | D840fs*5 | 840 | NM_005732 | chr5:131939731 | AF:0.44; DP:711 | PEDIATRIC | F | CARCINOMA | Panc/biliary | v2 | 15 |
700 | 347 | CN | ALK | likely | amplification | amplification | NM_004304 | chr2:29455242.0 | CN:8 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 1 | |
701 | 347 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:7 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 1 | |
702 | 347 | SV | PTPN11 | likely | point | Q510K | 510 | NM_002834 | chr12:112926908 | AF:0.05; DP:636 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 1 |
703 | 347 | SV | PTPN11 | likely | point | A72D | 72 | NM_002834 | chr12:112888199 | AF:0.13; DP:764 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 1 |
704 | 349 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | HEME | ALL | v4 | 16 | |
705 | 349 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | HEME | ALL | v4 | 16 | |
706 | 349 | SV | KRAS | likely | point | G12V | 12 | NM_004985 | chr12:25398284 | AF:0.09; DP:414 | PEDIATRIC | M | HEME | ALL | v4 | 16 |
707 | 349 | SV | MLL2 | likely | truncation | Q3932* | 3932 | NM_003482 | chr12:49426694 | AF:0.45; DP:455 | PEDIATRIC | M | HEME | ALL | v4 | 16 |
708 | 350 | CN | HGF | likely | amplification | amplification | NM_000601 | chr7:81355269.0 | CN:8 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 8 | |
709 | 350 | CN | CDK6 | likely | amplification | amplification | NM_001259 | chr7:92300794.0 | CN:8 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 8 | |
710 | 351 | SV | POT1 | likely | truncation | splice site 1164-1G>A | NM_015450 | chr7:124481233 | AF:0.5; DP:438 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 17 | |
711 | 352 | CN | ERBB2 | likely | amplification | amplification | NM_004448 | chr17:37872813.0 | CN:5 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 4 | |
712 | 352 | SV | MUTYH | likely | point | R460C | 460 | NM_001048171 | chr1:45796910 | AF:0.45; DP:382 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 4 |
713 | 353 | CN | CCND2 | likely | amplification | amplification | NM_001759 | chr12:4388005.0 | CN:7 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 14 | |
714 | 353 | CN | FGF23 | likely | amplification | amplification | NM_020638 | chr12:4481811.0 | CN:7 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 14 | |
715 | 353 | CN | FGF6 | likely | amplification | amplification | NM_020996 | chr12:4553350.0 | CN:7 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 14 | |
716 | 353 | CN | MAPK1 | likely | amplification | amplification | NM_002745 | chr22:22148199.0 | CN:7 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 14 | |
717 | 353 | RE | BCL6 | likely | rearrangement | BCL6-LINGO2 fusion | none | chr3:187457335 | SR:15 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 14 | |
718 | 353 | RE | IGH | likely | rearrangement | IGH rearrangement | none | chr14:106326705 | SR:26 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 14 | |
719 | 353 | SV | RB1 | likely | truncation | T510fs*9 | 510 | NM_000321 | chr13:48955412 | AF:0.44; DP:399 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 14 |
720 | 353 | SV | ZRSR2 | likely | point | R449del | 449 | NM_005089 | chrX:15841259 | AF:0.25; DP:267 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 14 |
721 | 354 | RE | BRAF | likely | rearrangement | BRAF-KIAA1549 fusion | none | chr7:140492584 | SR:22 | PEDIATRIC | M | BRAIN | Astrocytoma | v2 | 1 | |
722 | 355 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:68 | PEDIATRIC | F | SARCOMA | RMS | v4 | 15 | |
723 | 355 | RE | FOXO1 | likely | rearrangement | FOXO1-PAX3 fusion | none | chr13:41134892 | SR:269 | PEDIATRIC | F | SARCOMA | RMS | v4 | 15 | |
724 | 356 | SV | SMARCA4 | likely | truncation | Q300* | 300 | NM_003072 | chr19:11098380 | AF:0.49; DP:266 | PEDIATRIC | F | CARCINOMA | Gyn carcinoma | v4 | 12 |
725 | 356 | SV | SMARCA4 | likely | truncation | splice site 3215+1G>A | NM_003072 | chr19:11137023 | AF:0.46; DP:349 | PEDIATRIC | F | CARCINOMA | Gyn carcinoma | v4 | 12 | |
726 | 357 | RE | NTRK1 | likely | rearrangement | NTRK1-SQSTM1 fusion | none | chr1:156844404 | SR:2088 | PEDIATRIC | F | SARCOMA | Fibrosarcoma | v4 | 0 | |
727 | 358 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:116 | PEDIATRIC | M | SARCOMA | RMS | v4 | 11 | |
728 | 358 | SV | TP53 | likely | point | R248Q | 248 | NM_000546 | chr17:7577538 | AF:0.58; DP:352 | PEDIATRIC | M | SARCOMA | RMS | v4 | 11 |
729 | 359 | SV | PASK | likely | truncation | E1138* | 1138 | NM_015148 | chr2:242051776 | AF:0.48; DP:440 | PEDIATRIC | F | HEME | Histiocytic neoplasm | v4 | 18 |
730 | 360 | CN | CDK4 | likely | amplification | amplification | NM_000075 | chr12:58144493.0 | CN:16 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 18 | |
731 | 361 | RE | EWSR1 | likely | rearrangement | EWSR1-ATF1 fusion | none | chr22:29683783 | SR:29 | PEDIATRIC | F | SARCOMA | Soft tissue assorted | v4 | 15 | |
732 | 361 | SV | POT1 | likely | truncation | D617fs*9 | 617 | NM_015450 | chr7:124464069 | AF:0.51; DP:419 | PEDIATRIC | F | SARCOMA | Soft tissue assorted | v4 | 15 |
733 | 362 | CN | EGFR | likely | amplification | amplification | NM_005228 | chr7:55234642.0 | CN:15 | PEDIATRIC | F | CARCINOMA | Head and neck | v2 | 18 | |
734 | 362 | SV | TP53 | likely | point | R280G | 280 | NM_000546 | chr17:7577100 | AF:0.39; DP:739 | PEDIATRIC | F | CARCINOMA | Head and neck | v2 | 18 |
735 | 363 | RE | FOXO1 | likely | rearrangement | FOXO1-PAX3 fusion | none | chr13:41134891 | SR:1067 | PEDIATRIC | M | SARCOMA | RMS | v4 | 18 | |
736 | 364 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:39 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 3 | |
737 | 365 | CN | ATRX | likely | deletion | deletion | NM_000489 | chrX:76889127.0 | CN:None | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 17 | |
738 | 366 | CN | MDM2 | likely | amplification | amplification | NM_002392 | chr12:69218176.0 | CN:47 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 3 | |
739 | 366 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:118 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 3 | |
740 | 366 | CN | ALK | likely | amplification | amplification | NM_004304 | chr2:29455242.0 | CN:96 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 3 | |
741 | 367 | SV | NOTCH1 | likely | point | V1575del | 1575 | NM_017617 | chr9:139399419 | AF:0.03; DP:278 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 6 |
742 | 368 | CN | C17orf39 | likely | amplification | amplification | NM_024052 | chr17:17959863.0 | CN:7 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 17 | |
743 | 368 | CN | CCND3 | likely | amplification | amplification | NM_001136017 | chr6:41905052.0 | CN:8 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 17 | |
744 | 369 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:51 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 2 | |
745 | 369 | SV | ALK | likely | point | F1174C | 1174 | NM_004304 | chr2:29443696 | AF:0.46; DP:353 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 2 |
746 | 371 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | HEME | ALL | v4 | 14 | |
747 | 371 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | HEME | ALL | v4 | 14 | |
748 | 371 | RE | ETV6 | likely | rearrangement | ETV6-RUNX1 fusion | none | chr12:12035963 | SR:137 | PEDIATRIC | M | HEME | ALL | v4 | 14 | |
749 | 372 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:43 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 6 | |
750 | 372 | CN | ALK | likely | amplification | amplification | NM_004304 | chr2:29455242.0 | CN:6 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 6 | |
751 | 373 | CN | PDGFRA | likely | amplification | amplification | NM_006206 | chr4:55139897.0 | CN:29 | PEDIATRIC | M | SARCOMA | RMS | v4 | 4 | |
752 | 373 | CN | KIT | likely | amplification | amplification | NM_000222 | chr4:55593645.0 | CN:29 | PEDIATRIC | M | SARCOMA | RMS | v4 | 4 | |
753 | 373 | CN | KDR | likely | amplification | amplification | NM_002253 | chr4:55966522.0 | CN:27 | PEDIATRIC | M | SARCOMA | RMS | v4 | 4 | |
754 | 373 | CN | CDK6 | likely | amplification | amplification | NM_001259 | chr7:92300794.0 | CN:9 | PEDIATRIC | M | SARCOMA | RMS | v4 | 4 | |
755 | 373 | SV | NF1 | likely | truncation | R1968* | 1968 | NM_001042492 | chr17:29661945 | AF:0.27; DP:405 | PEDIATRIC | M | SARCOMA | RMS | v4 | 4 |
756 | 373 | SV | TP53 | likely | point | R175H | 175 | NM_000546 | chr17:7578406 | AF:0.76; DP:385 | PEDIATRIC | M | SARCOMA | RMS | v4 | 4 |
757 | 374 | SV | FLT3 | likely | point | L576_Q580>G | 576 | NM_004119 | chr13:28608322 | AF:0.09; DP:647 | PEDIATRIC | M | HEME | ALL | v4 | 14 |
758 | 374 | SV | CREBBP | likely | point | R1446C | 1446 | NM_004380 | chr16:3788618 | AF:0.13; DP:436 | PEDIATRIC | M | HEME | ALL | v4 | 14 |
759 | 376 | RE | MLLT10 | likely | rearrangement | MLLT10-PICALM fusion | none | chr10:21875249 | SR:1252 | PEDIATRIC | M | HEME | ALL | v4 | 18 | |
760 | 376 | SV | JAK3 | likely | point | R657Q | 657 | NM_000215 | chr19:17945969 | AF:0.06; DP:506 | PEDIATRIC | M | HEME | ALL | v4 | 18 |
761 | 376 | SV | NOTCH1 | likely | truncation | Q2487* | 2487 | NM_017617 | chr9:139390732 | AF:0.26; DP:775 | PEDIATRIC | M | HEME | ALL | v4 | 18 |
762 | 376 | SV | NRAS | likely | point | G12D | 12 | NM_002524 | chr1:115258747 | AF:0.33; DP:463 | PEDIATRIC | M | HEME | ALL | v4 | 18 |
763 | 376 | SV | WHSC1 | likely | point | E1099K | 1099 | NM_133335 | chr4:1962801 | AF:0.27; DP:600 | PEDIATRIC | M | HEME | ALL | v4 | 18 |
764 | 377 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | HEME | AML | v4 | 5 | |
765 | 377 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | HEME | AML | v4 | 5 | |
766 | 377 | SV | WT1 | likely | truncation | T231fs*16 | 231 | NM_024426 | chr11:32450122 | AF:0.61; DP:371 | PEDIATRIC | F | HEME | AML | v4 | 5 |
767 | 377 | SV | VHL | likely | point | M1I | 1 | NM_000551 | chr3:10183534 | AF:0.5; DP:394 | PEDIATRIC | F | HEME | AML | v4 | 5 |
768 | 377 | SV | CEBPA | likely | truncation | Q41fs*67 | 41 | NM_004364 | chr19:33793202 | AF:0.36; DP:234 | PEDIATRIC | F | HEME | AML | v4 | 5 |
769 | 378 | SV | TSHR | likely | point | D633Y | 633 | NM_000369 | chr14:81610299 | AF:0.29; DP:605 | PEDIATRIC | F | CARCINOMA | Thyroid | v4 | 11 |
770 | 379 | RE | EWSR1 | likely | rearrangement | EWSR1-FLI1 fusion | none | chr22:29685067 | SR:61 | PEDIATRIC | F | SARCOMA | Ewing | v4 | 8 | |
771 | 380 | RE | ALK | likely | rearrangement | ALK-SEC31A fusion | none | chr2:29446293 | SR:2205 | PEDIATRIC | M | HEME | Lymphoma | v4 | 16 | |
772 | 380 | RE | RB1 | likely | rearrangement | RB1-ALK rearrangement | none | chr13:48924460 | SR:86 | PEDIATRIC | M | HEME | Lymphoma | v4 | 16 | |
773 | 383 | CN | MAP2K1 | likely | amplification | amplification | NM_002755 | chr15:66774155.0 | CN:7 | PEDIATRIC | F | HEME | ALL | v4 | 10 | |
774 | 383 | RE | ASXL1 | likely | truncation | ASXL1 truncation | none | chr20:31021669 | SR:22 | PEDIATRIC | F | HEME | ALL | v4 | 10 | |
775 | 383 | SV | NRAS | likely | point | G12A | 12 | NM_002524 | chr1:115258747 | AF:0.33; DP:603 | PEDIATRIC | F | HEME | ALL | v4 | 10 |
776 | 384 | SV | PIK3CA | likely | point | E545K | 545 | NM_006218 | chr3:178936091 | AF:0.42; DP:366 | PEDIATRIC | M | SARCOMA | RMS | v4 | 5 |
777 | 384 | SV | FGFR4 | likely | point | V510L | 510 | NM_022963 | chr5:176522551 | AF:0.65; DP:547 | PEDIATRIC | M | SARCOMA | RMS | v4 | 5 |
778 | 385 | SV | KRAS | likely | point | L19F | 19 | NM_004985 | chr12:25398262 | AF:0.26; DP:461 | PEDIATRIC | M | BRAIN | Astrocytoma | v2 | 17 |
779 | 385 | SV | KRAS | likely | point | Q22K | 22 | NM_004985 | chr12:25398255 | AF:0.27; DP:489 | PEDIATRIC | M | BRAIN | Astrocytoma | v2 | 17 |
780 | 386 | CN | IKZF2 | likely | deletion | deletion | NM_016260 | chr2:213914520.0 | CN:0 | PEDIATRIC | M | HEME | ALL | v4 | 13 | |
781 | 386 | SV | TP53 | likely | point | R337L | 337 | NM_000546 | chr17:7574017 | AF:0.86; DP:317 | PEDIATRIC | M | HEME | ALL | v4 | 13 |
782 | 387 | SV | RAD51 | likely | truncation | R83fs*6 | 83 | NM_133487 | chr15:40994024 | AF:0.09; DP:192 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v4 | 1 |
783 | 387 | SV | PTPRO | likely | truncation | splice | NM_030667 | chr12:15669695 | AF:0.06; DP:312 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v4 | 1 | |
784 | 387 | SV | CTNNB1 | likely | point | G34V | 34 | NM_001904 | chr3:41266104 | AF:0.39; DP:435 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v4 | 1 |
785 | 388 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:19 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 3 | |
786 | 389 | RE | CREBBP | likely | rearrangement | CREBBP-SLX4 fusion | none | chr16:3929864 | SR:81 | PEDIATRIC | F | SARCOMA | RMS | v4 | 2 | |
787 | 389 | SV | NRAS | likely | point | Q61K | 61 | NM_002524 | chr1:115256530 | AF:0.31; DP:542 | PEDIATRIC | F | SARCOMA | RMS | v4 | 2 |
788 | 390 | CN | BAP1 | likely | deletion | deletion | NM_004656 | chr3:52440330.0 | CN:0 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 18 | |
789 | 390 | CN | PBRM1 | likely | deletion | deletion | NM_018313 | chr3:52646663.0 | CN:0 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 18 | |
790 | 391 | CN | KDR | likely | amplification | amplification | NM_002253 | chr4:55966522.0 | CN:8 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 7 | |
791 | 391 | CN | PDGFRA | likely | amplification | amplification | NM_006206 | chr4:55139897.0 | CN:8 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 7 | |
792 | 391 | CN | KIT | likely | amplification | amplification | NM_000222 | chr4:55593645.0 | CN:8 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 7 | |
793 | 391 | SV | TLL2 | likely | point | R333W | 333 | NM_012465 | chr10:98173000 | AF:0.1; DP:328 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 7 |
794 | 391 | SV | NF1 | likely | truncation | Q1086* | 1086 | NM_001042492 | chr17:29559149 | AF:0.41; DP:384 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 7 |
795 | 391 | SV | TP53 | likely | point | G245V | 245 | NM_000546 | chr17:7577547 | AF:0.73; DP:301 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 7 |
796 | 393 | CN | ARID2 | likely | deletion | deletion | NM_152641 | chr12:46233195.0 | CN:0 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 17 | |
797 | 393 | CN | RPTOR | likely | amplification | amplification | NM_020761 | chr17:78862231.0 | CN:6 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 17 | |
798 | 393 | SV | EED | likely | truncation | splice | NM_003797 | chr11:85988181 | AF:0.3; DP:274 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 17 | |
799 | 393 | SV | EP300 | likely | truncation | Y1421fs*2 | 1421 | NM_001429 | chr22:41565594 | AF:0.1; DP:294 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 17 |
800 | 394 | SV | PARP4 | likely | point | P1329L | 1329 | NM_006437 | chr13:25009293 | AF:0.49; DP:488 | PEDIATRIC | M | HEME | Histiocytic neoplasm | v4 | 4 |
801 | 394 | SV | MAP2K1 | likely | point | Q58_E62del | 58 | NM_002755 | chr15:66727456 | AF:0.21; DP:745 | PEDIATRIC | M | HEME | Histiocytic neoplasm | v4 | 4 |
802 | 394 | SV | MAP3K14 | likely | truncation | Q707* | 707 | NM_003954 | chr17:43344979 | AF:0.51; DP:556 | PEDIATRIC | M | HEME | Histiocytic neoplasm | v4 | 4 |
803 | 395 | CN | MCL1 | likely | amplification | amplification | NM_182763 | chr1:150550843.0 | CN:11 | PEDIATRIC | M | CARCINOMA | Head and neck | v4 | 8 | |
804 | 396 | SV | ALK | likely | point | R1275Q | 1275 | NM_004304 | chr2:29432664 | AF:0.49; DP:377 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 1 |
805 | 397 | SV | TP53 | likely | point | R273H | 273 | NM_000546 | chr17:7577120 | AF:0.01; DP:542 | PEDIATRIC | F | CARCINOMA | Other | v4 | 14 |
806 | 397 | SV | TP53 | likely | point | R282W | 282 | NM_000546 | chr17:7577094 | AF:0.04; DP:563 | PEDIATRIC | F | CARCINOMA | Other | v4 | 14 |
807 | 397 | SV | TP53 | likely | point | E285K | 285 | NM_000546 | chr17:7577085 | AF:0.02; DP:556 | PEDIATRIC | F | CARCINOMA | Other | v4 | 14 |
808 | 397 | SV | TP53 | likely | point | E271K | 271 | NM_000546 | chr17:7577127 | AF:0.02; DP:540 | PEDIATRIC | F | CARCINOMA | Other | v4 | 14 |
809 | 397 | SV | TP53 | likely | point | R213Q | 213 | NM_000546 | chr17:7578211 | AF:0.04; DP:411 | PEDIATRIC | F | CARCINOMA | Other | v4 | 14 |
810 | 397 | SV | TP53 | likely | point | P190L | 190 | NM_000546 | chr17:7578280 | AF:0.3; DP:452 | PEDIATRIC | F | CARCINOMA | Other | v4 | 14 |
811 | 397 | SV | TP53 | likely | point | V143M | 143 | NM_000546 | chr17:7578503 | AF:0.02; DP:416 | PEDIATRIC | F | CARCINOMA | Other | v4 | 14 |
812 | 397 | SV | SMAD2 | likely | truncation | Q407* | 407 | NM_005901 | chr18:45371772 | AF:0.26; DP:548 | PEDIATRIC | F | CARCINOMA | Other | v4 | 14 |
813 | 398 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | SARCOMA | Fibrosarcoma | v4 | 18 | |
814 | 398 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | SARCOMA | Fibrosarcoma | v4 | 18 | |
815 | 399 | RE | ALK | likely | rearrangement | ALK-CLTC fusion | none | chr2:29446305 | SR:313 | PEDIATRIC | M | HEME | Lymphoma | v4 | 17 | |
816 | 400 | SV | BRAF | likely | point | A598_T599insT | 598 | NM_004333 | chr7:140453142 | AF:0.2; DP:477 | PEDIATRIC | F | BRAIN | Astrocytoma | v4 | 16 |
817 | 401 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:44 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 1 | |
818 | 402 | RE | PTEN | likely | rearrangement | PTEN-CBL fusion | none | chr10:89685296 | SR:508 | PEDIATRIC | M | HEME | ALL | v4 | 9 | |
819 | 402 | SV | CHD2 | likely | point | S1407Y | 1407 | NM_001271 | chr15:93545489 | AF:0.49; DP:596 | PEDIATRIC | M | HEME | ALL | v4 | 9 |
820 | 402 | SV | ARID1A | likely | truncation | M1504fs*4 | 1504 | NM_006015 | chr1:27101229 | AF:0.14; DP:714 | PEDIATRIC | M | HEME | ALL | v4 | 9 |
821 | 402 | SV | CDKN2A | likely | point | A127_R128insA*K | 127 | NM_000077 | chr9:21970977 | AF:0.41; DP:604 | PEDIATRIC | M | HEME | ALL | v4 | 9 |
822 | 404 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | CARCINOMA | Other | v4 | 10 | |
823 | 404 | RE | FUS | likely | rearrangement | FUS-KLF17 rearrangement | none | chr16:31195256 | SR:72 | PEDIATRIC | F | CARCINOMA | Other | v4 | 10 | |
824 | 407 | CN | CDK4 | likely | amplification | amplification | NM_000075 | chr12:58144493.0 | CN:17 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 8 | |
825 | 407 | CN | C17orf39 | likely | amplification | amplification | NM_024052 | chr17:17959863.0 | CN:8 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 8 | |
826 | 407 | CN | RPTOR | likely | amplification | amplification | NM_020761 | chr17:78862231.0 | CN:9 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 8 | |
827 | 407 | CN | MCL1 | likely | amplification | amplification | NM_182763 | chr1:150550843.0 | CN:23 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 8 | |
828 | 407 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:34 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 8 | |
829 | 407 | CN | MYST3 | likely | amplification | amplification | NM_006766 | chr8:41809844.0 | CN:23 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 8 | |
830 | 407 | SV | NOTCH2 | likely | truncation | P6fs*27 | 6 | NM_024408 | chr1:120612002 | AF:0.57; DP:555 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 8 |
831 | 408 | SV | NOD1 | likely | truncation | L563fs*50 | 563 | NM_006092 | chr7:30491343 | AF:0.44; DP:594 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 4 |
832 | 409 | SV | CASP8 | likely | truncation | Q482* | 482 | NM_001228 | chr2:202151270 | AF:0.14; DP:413 | PEDIATRIC | F | CARCINOMA | Other | v4 | 17 |
833 | 409 | SV | SMARCA4 | likely | truncation | splice | NM_003072 | chr19:11169040 | AF:0.08; DP:269 | PEDIATRIC | F | CARCINOMA | Other | v4 | 17 | |
834 | 409 | SV | NOTCH1 | likely | truncation | Q1978* | 1978 | NM_017617 | chr9:139395006 | AF:0.07; DP:174 | PEDIATRIC | F | CARCINOMA | Other | v4 | 17 |
835 | 410 | RE | EWSR1 | likely | rearrangement | EWSR1-WT1 fusion | none | chr22:29683051 | SR:347 | PEDIATRIC | F | SARCOMA | DSRC | v4 | 14 | |
836 | 410 | SV | BRCA2 | likely | truncation | S1982fs*22 | 1982 | NM_000059 | chr13:32914437 | AF:0.48; DP:526 | PEDIATRIC | F | SARCOMA | DSRC | v4 | 14 |
837 | 410 | SV | TP53 | likely | point | R342Q | 342 | NM_000546 | chr17:7574002 | AF:0.6; DP:266 | PEDIATRIC | F | SARCOMA | DSRC | v4 | 14 |
838 | 411 | SV | PIK3CA | likely | point | Q546P | 546 | NM_006218 | chr3:178936095 | AF:0.45; DP:397 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 3 |
839 | 411 | SV | NF1 | likely | truncation | R1250fs*14 | 1250 | NM_001042492 | chr17:29562668 | AF:0.58; DP:267 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 3 |
840 | 411 | SV | PTPN11 | likely | point | A72T | 72 | NM_002834 | chr12:112888198 | AF:0.47; DP:511 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 3 |
841 | 411 | SV | NF1 | likely | truncation | W2494* | 2494 | NM_001042492 | chr17:29679298 | AF:0.05; DP:239 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 3 |
842 | 412 | SV | CDC73 | likely | truncation | E168* | 168 | NM_024529 | chr1:193107293 | AF:0.1; DP:644 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 9 |
843 | 413 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | HEME | Leukemia (NOS) | v4 | 6 | |
844 | 413 | SV | MLL2 | likely | truncation | R1702* | 1702 | NM_003482 | chr12:49438067 | AF:0.39; DP:446 | PEDIATRIC | F | HEME | Leukemia (NOS) | v4 | 6 |
845 | 413 | SV | NOTCH1 | likely | point | R1598P | 1598 | NM_017617 | chr9:139399350 | AF:0.11; DP:331 | PEDIATRIC | F | HEME | Leukemia (NOS) | v4 | 6 |
846 | 414 | RE | BRAF | likely | rearrangement | BRAF-KIAA1549 fusion | none | chr7:140481399 | SR:61 | PEDIATRIC | F | BRAIN | Astrocytoma | v4 | 1 | |
847 | 415 | CN | CCNE1 | likely | amplification | amplification | NM_001238 | chr19:30312185.0 | CN:15 | PEDIATRIC | F | CARCINOMA | Adrenal | v4 | 15 | |
848 | 415 | RE | SMARCA4 | likely | rearrangement | SMARCA4-N/A rearrangement | none | chr19:11098489 | SR:12 | PEDIATRIC | F | CARCINOMA | Adrenal | v4 | 15 | |
849 | 416 | SV | GRIN2A | likely | point | F183I | 183 | NM_000833 | chr16:10032276 | AF:0.52; DP:190 | PEDIATRIC | F | SARCOMA | Hemangioendothelioma | v2 | 16 |
850 | 418 | SV | GATA1 | likely | truncation | V32fs*7 | 32 | NM_002049 | chrX:48649605 | AF:0.3; DP:193 | PEDIATRIC | M | HEME | AML | v4 | 1 |
851 | 418 | SV | SRSF2 | likely | point | P95R | 95 | NM_003016 | chr17:74732959 | AF:0.08; DP:366 | PEDIATRIC | M | HEME | AML | v4 | 1 |
852 | 418 | SV | NRAS | likely | point | G12D | 12 | NM_002524 | chr1:115258747 | AF:0.1; DP:576 | PEDIATRIC | M | HEME | AML | v4 | 1 |
853 | 420 | SV | JAK1 | likely | point | S632_L633insW | 632 | NM_002227 | chr1:65313217 | AF:0.09; DP:516 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v2 | 15 |
854 | 421 | RE | EWSR1 | likely | rearrangement | EWSR1-ATF1 fusion | none | chr22:29687095 | SR:212 | PEDIATRIC | M | SARCOMA | Soft tissue assorted | v4 | 13 | |
855 | 421 | SV | TP53 | likely | point | R175H | 175 | NM_000546 | chr17:7578406 | AF:0.77; DP:427 | PEDIATRIC | M | SARCOMA | Soft tissue assorted | v4 | 13 |
856 | 422 | SV | MLH1 | likely | point | R325Q | 325 | NM_000249 | chr3:37061890 | AF:0.51; DP:464 | PEDIATRIC | F | HEME | MDS and/or MPN | v4 | 12 |
857 | 422 | SV | FANCA | likely | truncation | G972fs*17 | 972 | NM_000135 | chr16:89825055 | AF:0.96; DP:444 | PEDIATRIC | F | HEME | MDS and/or MPN | v4 | 12 |
858 | 423 | SV | CAD | likely | truncation | Q408* | 408 | NM_004341 | chr2:27447326 | AF:0.48; DP:512 | PEDIATRIC | F | CARCINOMA | Other | v4 | 9 |
859 | 423 | SV | CTNNB1 | likely | point | S37P | 37 | NM_001904 | chr3:41266112 | AF:0.09; DP:606 | PEDIATRIC | F | CARCINOMA | Other | v4 | 9 |
860 | 424 | SV | TSC1 | likely | truncation | S331fs*10 | 331 | NM_000368 | chr9:135786880 | AF:0.53; DP:421 | PEDIATRIC | M | CARCINOMA | Neuroendocrine | v4 | 4 |
861 | 425 | RE | EWSR1 | likely | rearrangement | EWSR1-CREB1 fusion | none | chr22:29683066 | SR:539 | PEDIATRIC | M | SARCOMA | Soft tissue assorted | v4 | 17 | |
862 | 426 | SV | IGF1R | likely | point | P898Q | 898 | NM_000875 | chr15:99467824 | AF:0.45; DP:388 | PEDIATRIC | M | SARCOMA | Soft tissue (NOS) | v4 | 8 |
863 | 427 | RE | RET | likely | rearrangement | RET-NCOA4 fusion | none | chr10:43610818 | SR:43 | PEDIATRIC | F | CARCINOMA | Thyroid | v2 | 9 | |
864 | 428 | RE | ETV6 | likely | truncation | ETV6 truncation | none | chr12:12038872 | SR:1807 | PEDIATRIC | M | HEME | ALL | v4 | 1 | |
865 | 428 | SV | PTPN11 | likely | point | G503A | 503 | NM_002834 | chr12:112926888 | AF:0.12; DP:392 | PEDIATRIC | M | HEME | ALL | v4 | 1 |
866 | 428 | SV | KRAS | likely | point | Q61P | 61 | NM_004985 | chr12:25380276 | AF:0.12; DP:514 | PEDIATRIC | M | HEME | ALL | v4 | 1 |
867 | 429 | RE | ALK | likely | rearrangement | ALK-BEND5 fusion | none | chr2:29446273 | SR:66 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 3 | |
868 | 429 | SV | PTPN11 | likely | point | G60V | 60 | NM_002834 | chr12:112888163 | AF:0.16; DP:241 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 3 |
869 | 429 | SV | CDKN2A | likely | point | H83Q | 83 | NM_000077 | chr9:21971109 | AF:0.17; DP:215 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 3 |
870 | 429 | SV | SMARCA4 | likely | point | E821K | 821 | NM_003072 | chr19:11129655 | AF:0.16; DP:238 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 3 |
871 | 430 | RE | POLE | likely | rearrangement | POLE-FUS fusion | none | chr12:133263868 | SR:66 | PEDIATRIC | M | HEME | MDS and/or MPN | v4 | 2 | |
872 | 431 | RE | EWSR1 | likely | rearrangement | EWSR1-FLI1 fusion | none | chr22:29688141 | SR:309 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 16 | |
873 | 431 | SV | TP53 | likely | point | R248Q | 248 | NM_000546 | chr17:7577538 | AF:0.2; DP:257 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 16 |
874 | 431 | SV | TP53 | likely | truncation | P72fs*77 | 72 | NM_000546 | chr17:7579472 | AF:0.54; DP:277 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 16 |
875 | 432 | SV | BCOR | likely | truncation | E1348fs*27 | 1348 | NM_017745 | chrX:39922031 | AF:0.23; DP:169 | PEDIATRIC | M | SARCOMA | RMS | v4 | 17 |
876 | 433 | CN | SMARCB1 | likely | deletion | deletion | NM_003073 | chr22:24152283.0 | CN:0 | PEDIATRIC | M | SARCOMA | Soft tissue (NOS) | v4 | 15 | |
877 | 434 | RE | EWSR1 | likely | rearrangement | EWSR1-ERG fusion | none | chr22:29688355 | SR:9 | PEDIATRIC | F | SARCOMA | Ewing | v4 | 8 | |
878 | 435 | CN | RB1 | likely | deletion | deletion | NM_000321 | chr13:48953758.0 | CN:0 | PEDIATRIC | M | HEME | ALL | v4 | 16 | |
879 | 435 | SV | TP53 | likely | truncation | splice site 97-1G>A | NM_000546 | chr17:7579591 | AF:0.68; DP:416 | PEDIATRIC | M | HEME | ALL | v4 | 16 | |
880 | 435 | SV | NRAS | likely | point | G12S | 12 | NM_002524 | chr1:115258748 | AF:0.69; DP:382 | PEDIATRIC | M | HEME | ALL | v4 | 16 |
881 | 437 | SV | CREBBP | likely | point | R1446C | 1446 | NM_004380 | chr16:3788618 | AF:0.54; DP:325 | PEDIATRIC | F | HEME | ALL | v4 | 3 |
882 | 437 | SV | TP53 | likely | point | G245S | 245 | NM_000546 | chr17:7577548 | AF:0.34; DP:297 | PEDIATRIC | F | HEME | ALL | v4 | 3 |
883 | 437 | SV | KRAS | likely | point | G12V | 12 | NM_004985 | chr12:25398284 | AF:0.25; DP:357 | PEDIATRIC | F | HEME | ALL | v4 | 3 |
884 | 438 | SV | BRAF | likely | point | V600E | 600 | NM_004333 | chr7:140453136 | AF:0.36; DP:428 | PEDIATRIC | M | HEME | Histiocytic neoplasm | v4 | 0 |
885 | 439 | CN | CDK4 | likely | amplification | amplification | NM_000075 | chr12:58144493.0 | CN:94 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 5 | |
886 | 439 | CN | MDM2 | likely | amplification | amplification | NM_002392 | chr12:69218176.0 | CN:68 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 5 | |
887 | 439 | CN | ATRX | likely | deletion | deletion | NM_000489 | chrX:76889127.0 | CN:0 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 5 | |
888 | 441 | SV | NF1 | likely | truncation | R2258* | 2258 | NM_001042492 | chr17:29665110 | AF:0.71; DP:219 | PEDIATRIC | M | SARCOMA | MPNST | v4 | 12 |
889 | 441 | SV | NF1 | likely | truncation | R2517* | 2517 | NM_001042492 | chr17:29679366 | AF:0.19; DP:196 | PEDIATRIC | M | SARCOMA | MPNST | v4 | 12 |
890 | 442 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | HEME | Lymphoma | v4 | 11 | |
891 | 442 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | HEME | Lymphoma | v4 | 11 | |
892 | 442 | SV | NOTCH1 | likely | point | L1678P | 1678 | NM_017617 | chr9:139397768 | AF:0.44; DP:216 | PEDIATRIC | M | HEME | Lymphoma | v4 | 11 |
893 | 442 | SV | CTCF | likely | truncation | L99fs*21 | 99 | NM_001191022 | chr16:67655414 | AF:0.42; DP:441 | PEDIATRIC | M | HEME | Lymphoma | v4 | 11 |
894 | 442 | SV | PHF6 | likely | truncation | R116* | 116 | NM_032458 | chrX:133527636 | AF:0.93; DP:247 | PEDIATRIC | M | HEME | Lymphoma | v4 | 11 |
895 | 442 | SV | NOTCH1 | likely | truncation | A2424fs*1 | 2424 | NM_017617 | chr9:139390929 | AF:0.38; DP:350 | PEDIATRIC | M | HEME | Lymphoma | v4 | 11 |
896 | 443 | RE | KDM5A | likely | rearrangement | KDM5A-NUP98 fusion | none | chr12:402244 | SR:419 | PEDIATRIC | M | HEME | AML | v4 | 3 | |
897 | 444 | SV | SUZ12 | likely | truncation | D725fs*15+ | 725 | NM_015355 | chr17:30325975 | AF:0.48; DP:448 | PEDIATRIC | M | HEME | Histiocytic neoplasm | v4 | 9 |
898 | 445 | SV | EGFR | likely | point | R108K | 108 | NM_005228 | chr7:55211080 | AF:0.62; DP:1124 | PEDIATRIC | F | BRAIN | Astrocytoma | v4 | 7 |
899 | 445 | SV | PIK3CA | likely | point | Q546K | 546 | NM_006218 | chr3:178936094 | AF:0.47; DP:545 | PEDIATRIC | F | BRAIN | Astrocytoma | v4 | 7 |
900 | 445 | SV | MYCN | likely | point | P44L | 44 | NM_005378 | chr2:16082317 | AF:0.36; DP:542 | PEDIATRIC | F | BRAIN | Astrocytoma | v4 | 7 |
901 | 445 | SV | PIK3CA | likely | point | E545G | 545 | NM_006218 | chr3:178936092 | AF:0.01; DP:536 | PEDIATRIC | F | BRAIN | Astrocytoma | v4 | 7 |
902 | 447 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:15 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 13 | |
903 | 447 | SV | TSC2 | likely | truncation | G1074* | 1074 | NM_000548 | chr16:2129365 | AF:0.8; DP:376 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 13 |
904 | 448 | SV | CDKN2A | likely | point | A100P | 100 | NM_000077 | chr9:21971060 | AF:0.06; DP:523 | PEDIATRIC | M | CARCINOMA | Lung | v2 | 6 |
905 | 448 | SV | ARID1A | likely | truncation | splice | NM_006015 | chr1:27094280 | AF:0.06; DP:624 | PEDIATRIC | M | CARCINOMA | Lung | v2 | 6 | |
906 | 448 | SV | TP53 | likely | point | K132N | 132 | NM_000546 | chr17:7578534 | AF:0.06; DP:514 | PEDIATRIC | M | CARCINOMA | Lung | v2 | 6 |
907 | 448 | SV | KDM6A | likely | truncation | splice | NM_021140 | chrX:44941886 | AF:0.1; DP:439 | PEDIATRIC | M | CARCINOMA | Lung | v2 | 6 | |
908 | 449 | CN | TP53 | likely | deletion | deletion | NM_000546 | chr17:7577322.0 | CN:0 | PEDIATRIC | M | BRAIN | Medulloblastoma | v2 | 2 | |
909 | 449 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:170 | PEDIATRIC | M | BRAIN | Medulloblastoma | v2 | 2 | |
910 | 449 | SV | BRCA2 | likely | truncation | S1848fs*15 | 1848 | NM_000059 | chr13:32914033 | AF:0.43; DP:504 | PEDIATRIC | M | BRAIN | Medulloblastoma | v2 | 2 |
911 | 449 | SV | PTEN | likely | truncation | L182* | 182 | NM_000314 | chr10:89711927 | AF:0.67; DP:250 | PEDIATRIC | M | BRAIN | Medulloblastoma | v2 | 2 |
912 | 450 | SV | BRIP1 | likely | truncation | E515fs*11 | 515 | NM_032043 | chr17:59861715 | AF:0.47; DP:773 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v2 | 5 |
913 | 451 | CN | GNAS | likely | amplification | amplification | NM_001077490 | chr20:57480486.0 | CN:7 | PEDIATRIC | M | CARCINOMA | Neuroendocrine | v4 | 10 | |
914 | 452 | CN | SOX2 | likely | amplification | amplification | NM_003106 | chr3:181430625.0 | CN:16 | PEDIATRIC | M | BRAIN | Glioblastoma | v4 | 7 | |
915 | 452 | SV | FANCA | likely | truncation | D1427fs*6 | 1427 | NM_000135 | chr16:89805101 | AF:0.43; DP:299 | PEDIATRIC | M | BRAIN | Glioblastoma | v4 | 7 |
916 | 452 | SV | ATRX | likely | truncation | R808* | 808 | NM_000489 | chrX:76938326 | AF:0.86; DP:305 | PEDIATRIC | M | BRAIN | Glioblastoma | v4 | 7 |
917 | 452 | SV | PIK3CA | likely | point | H1047R | 1047 | NM_006218 | chr3:178952085 | AF:0.58; DP:914 | PEDIATRIC | M | BRAIN | Glioblastoma | v4 | 7 |
918 | 453 | CN | PTEN | likely | deletion | deletion | NM_000314 | chr10:89692889.0 | CN:0 | PEDIATRIC | F | BRAIN | Glioma | v4 | 16 | |
919 | 453 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | BRAIN | Glioma | v4 | 16 | |
920 | 453 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | BRAIN | Glioma | v4 | 16 | |
921 | 453 | SV | NF1 | likely | truncation | E800fs*21 | 800 | NM_001042492 | chr17:29554612 | AF:0.68; DP:253 | PEDIATRIC | F | BRAIN | Glioma | v4 | 16 |
922 | 453 | SV | PTPN11 | likely | point | S502T | 502 | NM_002834 | chr12:112926884 | AF:0.17; DP:448 | PEDIATRIC | F | BRAIN | Glioma | v4 | 16 |
923 | 454 | RE | EWSR1 | likely | rearrangement | EWSR1-CREB1 fusion | none | chr22:29683067 | SR:255 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 11 | |
924 | 454 | SV | SMARCA4 | likely | point | R1192C | 1192 | NM_003072 | chr19:11143993 | AF:0.17; DP:419 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 11 |
925 | 455 | RE | EWSR1 | likely | rearrangement | EWSR1-WT1 fusion | none | chr22:29683049 | SR:1600 | PEDIATRIC | M | SARCOMA | DSRC | v4 | 8 | |
926 | 457 | RE | ATR | likely | rearrangement | ATR-EIF2AK1 fusion | none | chr3:142168299 | SR:55 | PEDIATRIC | M | HEME | Leukemia (NOS) | v4 | 14 | |
927 | 457 | SV | CREBBP | likely | truncation | L115fs*21 | 115 | NM_004380 | chr16:3900754 | AF:0.17; DP:428 | PEDIATRIC | M | HEME | Leukemia (NOS) | v4 | 14 |
928 | 457 | SV | WT1 | likely | truncation | R434fs*20 | 434 | NM_024426 | chr11:32414260 | AF:0.14; DP:469 | PEDIATRIC | M | HEME | Leukemia (NOS) | v4 | 14 |
929 | 457 | SV | WT1 | likely | truncation | P372fs*4 | 372 | NM_024426 | chr11:32417943 | AF:0.19; DP:339 | PEDIATRIC | M | HEME | Leukemia (NOS) | v4 | 14 |
930 | 459 | CN | NF1 | likely | deletion | deletion | NM_001042492 | chr17:29576069.0 | CN:0 | PEDIATRIC | M | SARCOMA | RMS | v4 | 10 | |
931 | 459 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:6 | PEDIATRIC | M | SARCOMA | RMS | v4 | 10 | |
932 | 460 | RE | TP53 | likely | truncation | TP53 truncation | none | chr17:7590733 | SR:50 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 10 | |
933 | 461 | CN | TNFRSF11A | likely | amplification | amplification | NM_003839 | chr18:60027235.0 | CN:8 | PEDIATRIC | M | SARCOMA | MPNST | v4 | 16 | |
934 | 461 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | SARCOMA | MPNST | v4 | 16 | |
935 | 461 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | SARCOMA | MPNST | v4 | 16 | |
936 | 461 | CN | ATRX | likely | deletion | deletion | NM_000489 | chrX:76889127.0 | CN:0 | PEDIATRIC | M | SARCOMA | MPNST | v4 | 16 | |
937 | 461 | RE | BCL11B | likely | rearrangement | BCL11B-KDSR fusion | none | chr14:99642433 | SR:128 | PEDIATRIC | M | SARCOMA | MPNST | v4 | 16 | |
938 | 461 | SV | NOTCH2 | likely | point | R1410H | 1410 | NM_024408 | chr1:120468210 | AF:0.52; DP:822 | PEDIATRIC | M | SARCOMA | MPNST | v4 | 16 |
939 | 461 | SV | NF1 | likely | truncation | Q1835* | 1835 | NM_001042492 | chr17:29654751 | AF:0.91; DP:464 | PEDIATRIC | M | SARCOMA | MPNST | v4 | 16 |
940 | 462 | RE | BCOR | likely | truncation | BCOR truncation | none | chrX:39931670 | SR:216 | PEDIATRIC | M | BRAIN | Ependymoma | v4 | 11 | |
941 | 462 | RE | EP300 | likely | rearrangement | EP300-RBMS3 rearrangement | none | chr22:41575013 | SR:27 | PEDIATRIC | M | BRAIN | Ependymoma | v4 | 11 | |
942 | 462 | RE | EP300 | likely | rearrangement | EP300-BCOR fusion | none | chr22:41573738 | SR:477 | PEDIATRIC | M | BRAIN | Ependymoma | v4 | 11 | |
943 | 462 | SV | SETD2 | likely | truncation | D2096fs*51 | 2096 | NM_014159 | chr3:47103659 | AF:0.11; DP:428 | PEDIATRIC | M | BRAIN | Ependymoma | v4 | 11 |
944 | 463 | CN | CDK6 | likely | amplification | amplification | NM_001259 | chr7:92300794.0 | CN:32 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 5 | |
945 | 463 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:7 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 5 | |
946 | 463 | SV | FLT3 | likely | point | G613E | 613 | NM_004119 | chr13:28608128 | AF:0.46; DP:554 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 5 |
947 | 464 | SV | FBXW7 | likely | point | R505C | 505 | NM_033632 | chr4:153247289 | AF:0.31; DP:582 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v4 | 5 |
948 | 464 | SV | FBXW7 | likely | truncation | G619fs*9 | 619 | NM_033632 | chr4:153245335 | AF:0.44; DP:384 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v4 | 5 |
949 | 465 | CN | C17orf39 | likely | amplification | amplification | NM_024052 | chr17:17959863.0 | CN:8 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 7 | |
950 | 465 | CN | RPTOR | likely | amplification | amplification | NM_020761 | chr17:78862231.0 | CN:8 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 7 | |
951 | 465 | CN | EGFR | likely | amplification | amplification | NM_005228 | chr7:55234642.0 | CN:13 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 7 | |
952 | 465 | CN | TSC1 | likely | deletion | deletion | NM_000368 | chr9:135782722.0 | CN:0 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 7 | |
953 | 465 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 7 | |
954 | 465 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 7 | |
955 | 465 | SV | TP53 | likely | point | R273C | 273 | NM_000546 | chr17:7577121 | AF:0.66; DP:384 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 7 |
956 | 465 | SV | MUTYH | likely | point | Y165C | 165 | NM_001048171 | chr1:45798475 | AF:0.54; DP:581 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 7 |
957 | 466 | SV | HLA | likely | truncation | W228* | 228 | NM_002116 | chr6:29911963 | AF:0.11; DP:57 | PEDIATRIC | M | BRAIN | Astrocytoma | v4 | 5 |
958 | 466 | SV | PIK3CA | likely | point | E545K | 545 | NM_006218 | chr3:178936091 | AF:0.42; DP:364 | PEDIATRIC | M | BRAIN | Astrocytoma | v4 | 5 |
959 | 467 | RE | ALK | likely | rearrangement | ALK-EML4 fusion | none | chr2:29446717 | SR:40 | PEDIATRIC | F | HEME | Histiocytic neoplasm | v2 | 13 | |
960 | 468 | CN | AURKB | likely | amplification | amplification | NM_004217 | chr17:8110350.0 | CN:6 | PEDIATRIC | M | BRAIN | Astrocytoma | v2 | 12 | |
961 | 468 | SV | EGFR | likely | point | N771_P772>SVDNP | 771 | NM_005228 | chr7:55249013 | AF:0.37; DP:721 | PEDIATRIC | M | BRAIN | Astrocytoma | v2 | 12 |
962 | 468 | SV | PPP2R1A | likely | point | V201I | 201 | NM_014225 | chr19:52716036 | AF:0.51; DP:636 | PEDIATRIC | M | BRAIN | Astrocytoma | v2 | 12 |
963 | 468 | SV | TP53 | likely | point | R248W | 248 | NM_000546 | chr17:7577539 | AF:0.78; DP:430 | PEDIATRIC | M | BRAIN | Astrocytoma | v2 | 12 |
964 | 469 | RE | MLL | likely | rearrangement | MLL-AFF1 fusion | none | chr11:118360523 | SR:4628 | PEDIATRIC | F | HEME | Leukemia (NOS) | v4 | 1 | |
965 | 469 | SV | NRAS | likely | point | G12D | 12 | NM_002524 | chr1:115258747 | AF:0.25; DP:367 | PEDIATRIC | F | HEME | Leukemia (NOS) | v4 | 1 |
966 | 470 | SV | NRAS | likely | point | Q61K | 61 | NM_002524 | chr1:115256530 | AF:0.5; DP:488 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 3 |
967 | 472 | RE | MLL | likely | rearrangement | MLL-AFF1 fusion | none | chr11:118353199 | SR:2660 | PEDIATRIC | M | HEME | ALL | v4 | 11 | |
968 | 472 | SV | TP53 | likely | point | R282P | 282 | NM_000546 | chr17:7577093 | AF:0.97; DP:503 | PEDIATRIC | M | HEME | ALL | v4 | 11 |
969 | 473 | CN | SMARCB1 | likely | deletion | deletion | NM_003073 | chr22:24152283.0 | CN:0 | PEDIATRIC | F | BRAIN | Atypical Teratoid Rhaboid Tumor (ATRT) | v4 | 10 | |
970 | 473 | SV | RET | likely | point | E511K | 511 | NM_020975 | chr10:43607555 | AF:0.64; DP:400 | PEDIATRIC | F | BRAIN | Atypical Teratoid Rhaboid Tumor (ATRT) | v4 | 10 |
971 | 474 | CN | JAK2 | likely | amplification | amplification | NM_004972 | chr9:5073741.0 | CN:7 | PEDIATRIC | F | CARCINOMA | Gyn carcinoma | v2 | 16 | |
972 | 474 | CN | EGFR | likely | amplification | amplification | NM_005228 | chr7:55234642.0 | CN:32 | PEDIATRIC | F | CARCINOMA | Gyn carcinoma | v2 | 16 | |
973 | 475 | SV | BRAF | likely | point | V600E | 600 | NM_004333 | chr7:140453136 | AF:0.23; DP:449 | PEDIATRIC | M | BRAIN | Glioblastoma | v4 | 1 |
974 | 475 | SV | PIK3CA | likely | point | H1047L | 1047 | NM_006218 | chr3:178952085 | AF:0.2; DP:638 | PEDIATRIC | M | BRAIN | Glioblastoma | v4 | 1 |
975 | 476 | CN | TP53 | likely | deletion | deletion | NM_000546 | chr17:7577322.0 | CN:0 | PEDIATRIC | M | SARCOMA | Soft tissue (NOS) | v4 | 13 | |
976 | 476 | CN | SMARCB1 | likely | deletion | deletion | NM_003073 | chr22:24152283.0 | CN:0 | PEDIATRIC | M | SARCOMA | Soft tissue (NOS) | v4 | 13 | |
977 | 477 | RE | EWSR1 | likely | rearrangement | EWSR1-FLI1 fusion | none | chr22:29688141 | SR:125 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 12 | |
978 | 478 | RE | MLLT10 | likely | rearrangement | MLLT10-PICALM fusion | none | chr10:21875249 | SR:1319 | PEDIATRIC | M | HEME | ALL | v4 | 12 | |
979 | 478 | RE | ATR | likely | truncation | ATR truncation | none | chr3:142168264 | SR:60 | PEDIATRIC | M | HEME | ALL | v4 | 12 | |
980 | 478 | SV | BCORL1 | likely | point | F390_T391>*DT | NM_021946 | chrX:129147917 | AF:0.39; DP:280 | PEDIATRIC | M | HEME | ALL | v4 | 12 | |
981 | 478 | SV | U2AF1 | likely | point | S34F | 34 | NM_006758 | chr21:44524456 | AF:0.18; DP:495 | PEDIATRIC | M | HEME | ALL | v4 | 12 |
982 | 478 | SV | NRAS | likely | point | G12D | 12 | NM_002524 | chr1:115258747 | AF:0.2; DP:499 | PEDIATRIC | M | HEME | ALL | v4 | 12 |
983 | 478 | SV | PTEN | likely | truncation | R234fs*1 | 234 | NM_000314 | chr10:89717673 | AF:0.22; DP:541 | PEDIATRIC | M | HEME | ALL | v4 | 12 |
984 | 479 | CN | TP53 | likely | deletion | deletion | NM_000546 | chr17:7577322.0 | CN:0 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 | |
985 | 479 | SV | TP53 | likely | point | R110S | 110 | NM_000546 | chr17:7579359 | AF:0.45; DP:190 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 |
986 | 479 | SV | SMARCA4 | likely | point | R1243W | 1243 | NM_003072 | chr19:11144146 | AF:0.1; DP:310 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 |
987 | 479 | SV | ATRX | likely | truncation | I1049fs*1 | 1049 | NM_000489 | chrX:76937608 | AF:0.46; DP:320 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 |
988 | 479 | SV | PTEN | likely | point | M134del | 134 | NM_000314 | chr10:89692917 | AF:0.31; DP:430 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 |
989 | 479 | SV | RB1 | likely | truncation | N505fs*2 | 505 | NM_000321 | chr13:48955395 | AF:0.32; DP:419 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 |
990 | 482 | RE | EWSR1 | likely | rearrangement | EWSR1-FLI1 fusion | none | chr22:29685366 | SR:104 | PEDIATRIC | F | SARCOMA | Ewing | v4 | 18 | |
991 | 482 | SV | EP300 | likely | truncation | T594fs*16 | 594 | NM_001429 | chr22:41536163 | AF:0.19; DP:384 | PEDIATRIC | F | SARCOMA | Ewing | v4 | 18 |
992 | 483 | CN | RPTOR | likely | amplification | amplification | NM_020761 | chr17:78862231.0 | CN:6 | PEDIATRIC | F | BRAIN | Astrocytoma | v2 | 18 | |
993 | 483 | CN | JAK2 | likely | amplification | amplification | NM_004972 | chr9:5073741.0 | CN:6 | PEDIATRIC | F | BRAIN | Astrocytoma | v2 | 18 | |
994 | 483 | SV | NF1 | likely | truncation | Q948* | 948 | NM_001042492 | chr17:29556475 | AF:0.37; DP:248 | PEDIATRIC | F | BRAIN | Astrocytoma | v2 | 18 |
995 | 483 | SV | NF1 | likely | truncation | M2569fs*1 | 2569 | NM_001042492 | chr17:29683562 | AF:0.36; DP:251 | PEDIATRIC | F | BRAIN | Astrocytoma | v2 | 18 |
996 | 484 | RE | BRAF | likely | rearrangement | BRAF-KIAA1549 fusion | none | chr7:140491114 | SR:71 | PEDIATRIC | M | BRAIN | Astrocytoma | v4 | 0 | |
997 | 485 | RE | EWSR1 | likely | rearrangement | EWSR1-FLI1 fusion | none | chr22:29683047 | SR:1304 | PEDIATRIC | F | SARCOMA | Ewing | v4 | 13 | |
998 | 485 | SV | PTEN | likely | truncation | Y336* | 336 | NM_000314 | chr10:89720857 | AF:0.69; DP:75 | PEDIATRIC | F | SARCOMA | Ewing | v4 | 13 |
999 | 486 | CN | TP53 | likely | deletion | deletion | NM_000546 | chr17:7577322.0 | CN:0 | PEDIATRIC | F | HEME | ALL | v4 | 1 | |
1000 | 486 | RE | MLL | likely | rearrangement | MLL-AFF1 fusion | none | chr11:118354908 | SR:832 | PEDIATRIC | F | HEME | ALL | v4 | 1 | |
1001 | 486 | SV | BRAF | likely | point | D594E | 594 | NM_004333 | chr7:140453153 | AF:0.41; DP:282 | PEDIATRIC | F | HEME | ALL | v4 | 1 |
1002 | 486 | SV | FAT3 | likely | point | A2925T | 2925 | NM_001008781 | chr11:92534952 | AF:0.5; DP:354 | PEDIATRIC | F | HEME | ALL | v4 | 1 |
1003 | 487 | SV | TP53 | likely | truncation | E56* | 56 | NM_000546 | chr17:7579521 | AF:0.57; DP:460 | PEDIATRIC | M | BRAIN | Glioblastoma | v4 | 15 |
1004 | 487 | SV | NCOR1 | likely | truncation | T525fs*11 | 525 | NM_006311 | chr17:16029462 | AF:0.41; DP:466 | PEDIATRIC | M | BRAIN | Glioblastoma | v4 | 15 |
1005 | 487 | SV | MLH1 | likely | truncation | E199* | 199 | NM_000249 | chr3:37053508 | AF:0.55; DP:441 | PEDIATRIC | M | BRAIN | Glioblastoma | v4 | 15 |
1006 | 487 | SV | RB1 | likely | truncation | splice site 1961-1G>C | NM_000321 | chr13:49033823 | AF:0.59; DP:384 | PEDIATRIC | M | BRAIN | Glioblastoma | v4 | 15 | |
1007 | 487 | SV | TSC1 | likely | truncation | Q743* | 743 | NM_000368 | chr9:135778156 | AF:0.48; DP:383 | PEDIATRIC | M | BRAIN | Glioblastoma | v4 | 15 |
1008 | 488 | SV | KRAS | likely | point | K117N | 117 | NM_004985 | chr12:25378647 | AF:0.44; DP:280 | PEDIATRIC | M | HEME | AML | v4 | 16 |
1009 | 489 | SV | ASXL1 | likely | truncation | S1028fs*19 | 1028 | NM_015338 | chr20:31023597 | AF:0.17; DP:286 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 13 |
1010 | 490 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:9 | PEDIATRIC | F | SARCOMA | RMS | v2 | 14 | |
1011 | 490 | SV | TP53 | likely | point | R273G | 273 | NM_000546 | chr17:7577121 | AF:0.57; DP:482 | PEDIATRIC | F | SARCOMA | RMS | v2 | 14 |
1012 | 491 | RE | EWSR1 | likely | rearrangement | EWSR1-FLI1 fusion | none | chr22:29684991 | SR:79 | PEDIATRIC | F | SARCOMA | Ewing | v4 | 5 | |
1013 | 492 | SV | ATRX | likely | truncation | F2113fs*9 | 2113 | NM_000489 | chrX:76814306 | AF:0.23; DP:147 | PEDIATRIC | M | BRAIN | Glioblastoma | v4 | 17 |
1014 | 492 | SV | ATRX | likely | truncation | Q883fs*21 | 883 | NM_000489 | chrX:76938096 | AF:0.08; DP:278 | PEDIATRIC | M | BRAIN | Glioblastoma | v4 | 17 |
1015 | 492 | SV | TP53 | likely | point | T284P | 284 | NM_000546 | chr17:7577088 | AF:0.62; DP:576 | PEDIATRIC | M | BRAIN | Glioblastoma | v4 | 17 |
1016 | 492 | SV | ATRX | likely | truncation | G859fs*10 | 859 | NM_000489 | chrX:76938172 | AF:0.36; DP:273 | PEDIATRIC | M | BRAIN | Glioblastoma | v4 | 17 |
1017 | 492 | SV | TP53 | likely | truncation | splice site 672+1G>T | NM_000546 | chr17:7578176 | AF:0.17; DP:462 | PEDIATRIC | M | BRAIN | Glioblastoma | v4 | 17 | |
1018 | 492 | SV | IDH1 | likely | point | R132C | 132 | NM_005896 | chr2:209113113 | AF:0.4; DP:509 | PEDIATRIC | M | BRAIN | Glioblastoma | v4 | 17 |
1019 | 493 | RE | ETV6 | likely | rearrangement | ETV6-RUNX1 fusion | none | chr12:12022630 | SR:359 | PEDIATRIC | M | HEME | ALL | v4 | 5 | |
1020 | 493 | SV | TP53 | likely | point | G244A | 244 | NM_000546 | chr17:7577550 | AF:0.41; DP:359 | PEDIATRIC | M | HEME | ALL | v4 | 5 |
1021 | 493 | SV | CREBBP | likely | truncation | T1006fs*48 | 1006 | NM_004380 | chr16:3819219 | AF:0.1; DP:524 | PEDIATRIC | M | HEME | ALL | v4 | 5 |
1022 | 493 | SV | PASK | likely | truncation | V781fs*9 | 781 | NM_015148 | chr2:242065975 | AF:0.19; DP:647 | PEDIATRIC | M | HEME | ALL | v4 | 5 |
1023 | 493 | SV | STK11 | likely | point | F354L | 354 | NM_000455 | chr19:1223125 | AF:0.27; DP:509 | PEDIATRIC | M | HEME | ALL | v4 | 5 |
1024 | 494 | CN | CDK4 | likely | amplification | amplification | NM_000075 | chr12:58144493.0 | CN:30 | PEDIATRIC | M | SARCOMA | RMS | v4 | 13 | |
1025 | 494 | SV | ATM | likely | point | Y2954C | 2954 | NM_000051 | chr11:108235819 | AF:0.53; DP:300 | PEDIATRIC | M | SARCOMA | RMS | v4 | 13 |
1026 | 494 | SV | TP53 | likely | point | M246V | 246 | NM_000546 | chr17:7577545 | AF:0.05; DP:252 | PEDIATRIC | M | SARCOMA | RMS | v4 | 13 |
1027 | 495 | RE | EWSR1 | likely | rearrangement | EWSR1-FLI1 fusion | none | chr22:29684771 | SR:53 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 15 | |
1028 | 495 | SV | TP53 | likely | point | R273C | 273 | NM_000546 | chr17:7577121 | AF:0.18; DP:771 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 15 |
1029 | 498 | CN | MYCL1 | likely | amplification | amplification | NM_005376 | chr1:40365126.0 | CN:6 | PEDIATRIC | M | CARCINOMA | Head and neck | v2 | 18 | |
1030 | 498 | SV | BARD1 | likely | truncation | R150* | 150 | NM_000465 | chr2:215646150 | AF:0.49; DP:784 | PEDIATRIC | M | CARCINOMA | Head and neck | v2 | 18 |
1031 | 499 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:29 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 1 | |
1032 | 499 | SV | AXIN1 | likely | point | R533_H534insQVHH | 533 | NM_003502 | chr16:347906 | AF:0.45; DP:305 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 1 |
1033 | 499 | SV | NF1 | likely | truncation | E337* | 337 | NM_001042492 | chr17:29527560 | AF:0.48; DP:148 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 1 |
1034 | 500 | SV | FGFR1 | likely | point | K656E | 656 | NM_023110 | chr8:38272308 | AF:0.38; DP:644 | PEDIATRIC | M | BRAIN | Glioblastoma | v2 | 15 |
1035 | 500 | SV | ATRX | likely | truncation | T429fs*5 | 429 | NM_000489 | chrX:76939464 | AF:0.75; DP:459 | PEDIATRIC | M | BRAIN | Glioblastoma | v2 | 15 |
1036 | 500 | SV | TP53 | likely | point | R273C | 273 | NM_000546 | chr17:7577121 | AF:0.73; DP:398 | PEDIATRIC | M | BRAIN | Glioblastoma | v2 | 15 |
1037 | 501 | RE | EWSR1 | likely | rearrangement | EWSR1-FLI1 fusion | none | chr22:29683056 | SR:729 | PEDIATRIC | F | SARCOMA | Ewing | v4 | 11 | |
1038 | 502 | RE | EWSR1 | likely | rearrangement | EWSR1-FLI1 fusion | none | chr22:29683060 | SR:1382 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 12 | |
1039 | 502 | SV | LRRK2 | likely | point | V2495I | 2495 | NM_198578 | chr12:40761466 | AF:0.46; DP:549 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 12 |
1040 | 503 | RE | FOXO1 | likely | rearrangement | FOXO1-PAX3 fusion | none | chr13:41134892 | SR:365 | PEDIATRIC | M | SARCOMA | RMS | v4 | 16 | |
1041 | 505 | SV | ARID1A | likely | truncation | M1634fs*1 | 1634 | NM_006015 | chr1:27101616 | AF:0.4; DP:463 | PEDIATRIC | F | SARCOMA | RMS | v4 | 10 |
1042 | 505 | SV | BCOR | likely | truncation | R546fs*16 | 546 | NM_017745 | chrX:39932978 | AF:0.33; DP:542 | PEDIATRIC | F | SARCOMA | RMS | v4 | 10 |
1043 | 505 | SV | ARID1A | likely | truncation | D1850fs*4 | 1850 | NM_006015 | chr1:27105937 | AF:0.2; DP:555 | PEDIATRIC | F | SARCOMA | RMS | v4 | 10 |
1044 | 505 | SV | SETD2 | likely | truncation | T2513fs*4 | 2513 | NM_014159 | chr3:47058687 | AF:0.25; DP:474 | PEDIATRIC | F | SARCOMA | RMS | v4 | 10 |
1045 | 505 | SV | SETD2 | likely | truncation | S2382fs*47 | 2382 | NM_014159 | chr3:47084151 | AF:0.3; DP:533 | PEDIATRIC | F | SARCOMA | RMS | v4 | 10 |
1046 | 506 | SV | CREBBP | likely | point | R1446H | 1446 | NM_004380 | chr16:3788617 | AF:0.83; DP:338 | PEDIATRIC | F | HEME | ALL | v4 | 7 |
1047 | 506 | SV | KRAS | likely | point | G12D | 12 | NM_004985 | chr12:25398284 | AF:0.43; DP:389 | PEDIATRIC | F | HEME | ALL | v4 | 7 |
1048 | 507 | SV | RAD51C | likely | truncation | splice site 706-2A>G | NM_058216 | chr17:56787218 | AF:0.34; DP:876 | PEDIATRIC | M | SARCOMA | Soft tissue assorted | v2 | 5 | |
1049 | 508 | SV | CTNNB1 | likely | point | W383R | 383 | NM_001904 | chr3:41274897 | AF:0.5; DP:397 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Wilms tumor | v2 | 8 |
1050 | 509 | SV | BRAF | likely | point | V600E | 600 | NM_004333 | chr7:140453136 | AF:0.09; DP:568 | PEDIATRIC | M | BRAIN | Ganglioglioma | v2 | 3 |
1051 | 510 | CN | PDGFRA | likely | amplification | amplification | NM_006206 | chr4:55139897.0 | CN:6 | PEDIATRIC | M | BRAIN | Glioma | v2 | 17 | |
1052 | 510 | CN | KIT | likely | amplification | amplification | NM_000222 | chr4:55593645.0 | CN:6 | PEDIATRIC | M | BRAIN | Glioma | v2 | 17 | |
1053 | 510 | CN | KDR | likely | amplification | amplification | NM_002253 | chr4:55966522.0 | CN:6 | PEDIATRIC | M | BRAIN | Glioma | v2 | 17 | |
1054 | 510 | SV | TP53 | likely | point | F270S | 270 | NM_000546 | chr17:7577129 | AF:0.07; DP:533 | PEDIATRIC | M | BRAIN | Glioma | v2 | 17 |
1055 | 511 | CN | PTEN | likely | deletion | deletion | NM_000314 | chr10:89692889.0 | CN:0 | PEDIATRIC | M | HEME | AML | v4 | 5 | |
1056 | 511 | RE | HOXA9 | likely | rearrangement | HOXA9-MED14 rearrangement | none | chr7:27204506 | SR:195 | PEDIATRIC | M | HEME | AML | v4 | 5 | |
1057 | 511 | SV | NRAS | likely | point | G13D | 13 | NM_002524 | chr1:115258744 | AF:0.39; DP:487 | PEDIATRIC | M | HEME | AML | v4 | 5 |
1058 | 511 | SV | SRC | likely | truncation | splice site 704-1G>A | NM_005417 | chr20:36026101 | AF:0.51; DP:391 | PEDIATRIC | M | HEME | AML | v4 | 5 | |
1059 | 512 | CN | MET | likely | amplification | amplification | NM_000245 | chr7:116406510.0 | CN:24 | PEDIATRIC | F | CARCINOMA | Lower GI | v2 | 13 | |
1060 | 512 | SV | TP53 | likely | point | R248Q | 248 | NM_000546 | chr17:7577538 | AF:0.09; DP:552 | PEDIATRIC | F | CARCINOMA | Lower GI | v2 | 13 |
1061 | 512 | SV | RNF43 | likely | truncation | R371* | 371 | NM_017763 | chr17:56436026 | AF:0.13; DP:455 | PEDIATRIC | F | CARCINOMA | Lower GI | v2 | 13 |
1062 | 514 | CN | MDM2 | likely | amplification | amplification | NM_002392 | chr12:69218176.0 | CN:7 | PEDIATRIC | F | SARCOMA | RMS | v4 | 6 | |
1063 | 514 | CN | TBL1XR1 | likely | amplification | amplification | NM_024665 | chr3:176764541.0 | CN:8 | PEDIATRIC | F | SARCOMA | RMS | v4 | 6 | |
1064 | 514 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | SARCOMA | RMS | v4 | 6 | |
1065 | 514 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | SARCOMA | RMS | v4 | 6 | |
1066 | 514 | SV | CPS1 | likely | truncation | P1302fs*17 | 1302 | NM_001875 | chr2:211525354 | AF:0.48; DP:507 | PEDIATRIC | F | SARCOMA | RMS | v4 | 6 |
1067 | 515 | CN | MALT1 | likely | amplification | amplification | NM_173844 | chr18:56383183.0 | CN:28 | PEDIATRIC | F | SARCOMA | RMS | v4 | 9 | |
1068 | 515 | CN | MCL1 | likely | amplification | amplification | NM_182763 | chr1:150550843.0 | CN:10 | PEDIATRIC | F | SARCOMA | RMS | v4 | 9 | |
1069 | 515 | RE | BCL7A | likely | rearrangement | BCL7A-SETD1B fusion | none | chr12:122468611 | SR:57 | PEDIATRIC | F | SARCOMA | RMS | v4 | 9 | |
1070 | 516 | CN | ZNF217 | likely | amplification | amplification | NM_006526 | chr20:52194343.0 | CN:16 | PEDIATRIC | M | SARCOMA | Soft tissue (NOS) | v4 | 16 | |
1071 | 517 | SV | PHF6 | likely | truncation | K38fs*44 | 38 | NM_032458 | chrX:133511758 | AF:0.62; DP:301 | PEDIATRIC | M | HEME | ALL | v4 | 9 |
1072 | 517 | SV | PHF6 | likely | truncation | K241fs*39 | 241 | NM_032458 | chrX:133547988 | AF:0.05; DP:295 | PEDIATRIC | M | HEME | ALL | v4 | 9 |
1073 | 517 | SV | RUNX1 | likely | point | R166Q | 166 | NM_001754 | chr21:36252865 | AF:0.3; DP:519 | PEDIATRIC | M | HEME | ALL | v4 | 9 |
1074 | 518 | CN | CIC | likely | deletion | deletion | NM_015125 | chr19:42795664.0 | CN:0 | PEDIATRIC | F | HEME | AML | v4 | 11 | |
1075 | 518 | SV | PBRM1 | likely | truncation | splice 1444-39_1449del45 | NM_018313 | chr3:52661380 | AF:0.67; DP:227 | PEDIATRIC | F | HEME | AML | v4 | 11 | |
1076 | 518 | SV | CHUK | likely | point | R563C | 563 | NM_001278 | chr10:101959770 | AF:0.48; DP:545 | PEDIATRIC | F | HEME | AML | v4 | 11 |
1077 | 519 | SV | BCORL1 | likely | truncation | V523fs*1 | 523 | NM_021946 | chrX:129148314 | AF:0.75; DP:388 | PEDIATRIC | M | HEME | ALL | v4 | 15 |
1078 | 519 | SV | PHF6 | likely | truncation | Y301* | 301 | NM_032458 | chrX:133551267 | AF:0.54; DP:270 | PEDIATRIC | M | HEME | ALL | v4 | 15 |
1079 | 519 | SV | ETV6 | likely | truncation | S131fs*23 | 131 | NM_001987 | chr12:12006423 | AF:0.38; DP:642 | PEDIATRIC | M | HEME | ALL | v4 | 15 |
1080 | 519 | SV | AXIN1 | likely | point | A740T | 740 | NM_003502 | chr16:341266 | AF:0.47; DP:452 | PEDIATRIC | M | HEME | ALL | v4 | 15 |
1081 | 520 | RE | TFE3 | likely | rearrangement | TFE3-SFPQ fusion | none | chrX:48895568 | SR:364 | PEDIATRIC | F | CARCINOMA | Kidney | v4 | 15 | |
1082 | 521 | RE | HEY1 | likely | rearrangement | HEY1-NCOA2 fusion | none | chr8:80678911 | SR:1238 | PEDIATRIC | F | SARCOMA | Soft tissue assorted | v4 | 12 | |
1083 | 522 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:105 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 8 | |
1084 | 523 | CN | CDK4 | likely | amplification | amplification | NM_000075 | chr12:58144493.0 | CN:51 | PEDIATRIC | M | BRAIN | Glioblastoma | v4 | 3 | |
1085 | 523 | CN | MDM2 | likely | amplification | amplification | NM_002392 | chr12:69218176.0 | CN:210 | PEDIATRIC | M | BRAIN | Glioblastoma | v4 | 3 | |
1086 | 523 | CN | CCND2 | likely | amplification | amplification | NM_001759 | chr12:4388005.0 | CN:213 | PEDIATRIC | M | BRAIN | Glioblastoma | v4 | 3 | |
1087 | 524 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | BRAIN | Astrocytoma | v4 | 6 | |
1088 | 524 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | BRAIN | Astrocytoma | v4 | 6 | |
1089 | 524 | SV | BRAF | likely | point | V600E | 600 | NM_004333 | chr7:140453136 | AF:0.56; DP:526 | PEDIATRIC | M | BRAIN | Astrocytoma | v4 | 6 |
1090 | 526 | RE | RNF213 | likely | rearrangement | RNF213-SLC26A11 fusion | none | chr17:78247117 | SR:25 | PEDIATRIC | M | HEME | AML | v4 | 18 | |
1091 | 526 | SV | U2AF1 | likely | point | R156H | 156 | NM_006758 | chr21:44514780 | AF:0.11; DP:512 | PEDIATRIC | M | HEME | AML | v4 | 18 |
1092 | 526 | SV | WT1 | likely | point | R462W | 462 | NM_024426 | chr11:32413566 | AF:0.13; DP:314 | PEDIATRIC | M | HEME | AML | v4 | 18 |
1093 | 528 | SV | SMARCB1 | likely | truncation | A384fs*3+ | 384 | NM_003073 | chr22:24176358 | AF:0.62; DP:177 | PEDIATRIC | M | BRAIN | Atypical Teratoid Rhaboid Tumor (ATRT) | v4 | 1 |
1094 | 529 | RE | CAMTA1 | likely | rearrangement | CAMTA1-WWTR1 fusion | none | chr1:7723436 | SR:218 | PEDIATRIC | F | SARCOMA | Hemangioendothelioma | v4 | 11 | |
1095 | 529 | SV | FANCA | likely | truncation | splice site 3828+1G>C | NM_000135 | chr16:89807211 | AF:0.52; DP:495 | PEDIATRIC | F | SARCOMA | Hemangioendothelioma | v4 | 11 | |
1096 | 530 | SV | CUX1 | likely | truncation | Q662* | 662 | NM_001202544 | chr7:101926377 | AF:0.55; DP:352 | PEDIATRIC | M | SARCOMA | Fibrosarcoma | v4 | 0 |
1097 | 531 | RE | EWSR1 | likely | rearrangement | EWSR1-WT1 fusion | none | chr22:29683032 | SR:1867 | PEDIATRIC | M | SARCOMA | DSRC | v4 | 9 | |
1098 | 531 | SV | DDX3X | likely | point | R528C | 528 | NM_001356 | chrX:41205842 | AF:0.03; DP:244 | PEDIATRIC | M | SARCOMA | DSRC | v4 | 9 |
1099 | 532 | SV | FGFR1 | likely | point | N546K | 546 | NM_023110 | chr8:38274849 | AF:0.33; DP:482 | PEDIATRIC | M | BRAIN | Glioblastoma | v2 | 18 |
1100 | 532 | SV | ATRX | likely | truncation | E1330* | 1330 | NM_000489 | chrX:76919003 | AF:0.65; DP:325 | PEDIATRIC | M | BRAIN | Glioblastoma | v2 | 18 |
1101 | 532 | SV | NF1 | likely | truncation | Y2285fs*5 | 2285 | NM_001042492 | chr17:29665753 | AF:0.33; DP:599 | PEDIATRIC | M | BRAIN | Glioblastoma | v2 | 18 |
1102 | 532 | SV | NF1 | likely | truncation | N1652fs*46 | 1652 | NM_001042492 | chr17:29652956 | AF:0.36; DP:803 | PEDIATRIC | M | BRAIN | Glioblastoma | v2 | 18 |
1103 | 534 | CN | PTEN | likely | deletion | deletion | NM_000314 | chr10:89692889.0 | CN:0 | PEDIATRIC | M | SARCOMA | DSRC | v4 | 13 | |
1104 | 534 | RE | EWSR1 | likely | rearrangement | EWSR1-WT1 fusion | none | chr22:29683993 | SR:119 | PEDIATRIC | M | SARCOMA | DSRC | v4 | 13 | |
1105 | 534 | SV | ZRSR2 | likely | point | R448_R449insSR | 448 | NM_005089 | chrX:15841259 | AF:0.46; DP:306 | PEDIATRIC | M | SARCOMA | DSRC | v4 | 13 |
1106 | 535 | SV | BRAF | likely | point | V600E | 600 | NM_004333 | chr7:140453136 | AF:0.2; DP:109 | PEDIATRIC | F | BRAIN | Glioma | v4 | 2 |
1107 | 536 | CN | C17orf39 | likely | amplification | amplification | NM_024052 | chr17:17959863.0 | CN:12 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 13 | |
1108 | 536 | CN | CCNE1 | likely | amplification | amplification | NM_001238 | chr19:30312185.0 | CN:7 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 13 | |
1109 | 536 | CN | MCL1 | likely | amplification | amplification | NM_182763 | chr1:150550843.0 | CN:7 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 13 | |
1110 | 536 | CN | AURKA | likely | amplification | amplification | NM_003600 | chr20:54957334.0 | CN:7 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 13 | |
1111 | 536 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:7 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 13 | |
1112 | 537 | CN | FOXP1 | likely | amplification | amplification | NM_032682 | chr3:71050166.0 | CN:7 | PEDIATRIC | F | SARCOMA | Fibromatosis | v4 | 8 | |
1113 | 537 | SV | CTNNB1 | likely | point | T41A | 41 | NM_001904 | chr3:41266124 | AF:0.29; DP:467 | PEDIATRIC | F | SARCOMA | Fibromatosis | v4 | 8 |
1114 | 538 | RE | BRCA1 | likely | truncation | BRCA1 truncation | none | chr17:41267804 | SR:84 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 0 | |
1115 | 539 | CN | MDM2 | likely | amplification | amplification | NM_002392 | chr12:69218176.0 | CN:18 | PEDIATRIC | F | SARCOMA | RMS | v4 | 8 | |
1116 | 539 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:242 | PEDIATRIC | F | SARCOMA | RMS | v4 | 8 | |
1117 | 539 | RE | HDAC4 | likely | truncation | HDAC4 truncation | none | chr2:240274394 | SR:3699 | PEDIATRIC | F | SARCOMA | RMS | v4 | 8 | |
1118 | 539 | SV | NOTCH1 | likely | point | V1575del | 1575 | NM_017617 | chr9:139399419 | AF:0.03; DP:234 | PEDIATRIC | F | SARCOMA | RMS | v4 | 8 |
1119 | 539 | SV | BRCA2 | likely | truncation | K3408* | 3408 | NM_000059 | chr13:32972872 | AF:0.49; DP:432 | PEDIATRIC | F | SARCOMA | RMS | v4 | 8 |
1120 | 540 | SV | FAM123B | likely | truncation | R353* | 353 | NM_152424 | chrX:63412110 | AF:0.96; DP:249 | PEDIATRIC | M | CARCINOMA | Kidney | v4 | 16 |
1121 | 540 | SV | BRAF | likely | point | D594G | 594 | NM_004333 | chr7:140453154 | AF:0.44; DP:463 | PEDIATRIC | M | CARCINOMA | Kidney | v4 | 16 |
1122 | 541 | SV | IRF8 | likely | point | A197T | 197 | NM_002163 | chr16:85948114 | AF:0.53; DP:429 | PEDIATRIC | M | BRAIN | Ependymoma | v4 | 11 |
1123 | 541 | SV | BCOR | likely | truncation | E919fs*17 | 919 | NM_017745 | chrX:39931843 | AF:0.89; DP:270 | PEDIATRIC | M | BRAIN | Ependymoma | v4 | 11 |
1124 | 542 | SV | APC | likely | truncation | R348* | 348 | NM_000038 | chr5:112154771 | AF:0.42; DP:382 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 |
1125 | 542 | SV | ELP2 | likely | point | R636Q | 636 | NM_018255 | chr18:33744583 | AF:0.44; DP:391 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 |
1126 | 542 | SV | DNMT3A | likely | point | R635W | 635 | NM_022552 | chr2:25466800 | AF:0.41; DP:415 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 |
1127 | 542 | SV | FGFR3 | likely | point | E627D | 627 | NM_000142 | chr4:1807822 | AF:0.26; DP:419 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 |
1128 | 542 | SV | MEF2C | likely | truncation | R189* | 189 | NM_002397 | chr5:88047698 | AF:0.43; DP:416 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 |
1129 | 542 | SV | NOTCH1 | likely | point | V1599M | 1599 | NM_017617 | chr9:139399348 | AF:0.35; DP:255 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 |
1130 | 542 | SV | PDGFRA | likely | point | S1042L | 1042 | NM_006206 | chr4:55161294 | AF:0.43; DP:397 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 |
1131 | 542 | SV | PIK3C2G | likely | point | R781H | 781 | NM_004570 | chr12:18576934 | AF:0.4; DP:374 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 |
1132 | 542 | SV | PIK3CA | likely | point | R88Q | 88 | NM_006218 | chr3:178916876 | AF:0.44; DP:638 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 |
1133 | 542 | SV | PMS2 | likely | truncation | R211* | 211 | NM_000535 | chr7:6038813 | AF:0.42; DP:446 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 |
1134 | 542 | SV | REL | likely | point | R22C | 22 | NM_002908 | chr2:61118871 | AF:0.41; DP:440 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 |
1135 | 542 | SV | TP53 | likely | point | R273C | 273 | NM_000546 | chr17:7577121 | AF:0.41; DP:633 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 |
1136 | 542 | SV | TP53 | likely | truncation | R175* | 175 | NM_000546 | chr17:7578407 | AF:0.43; DP:417 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 |
1137 | 542 | SV | TYK2 | likely | point | R243W | 243 | NM_003331 | chr19:10476477 | AF:0.38; DP:297 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 |
1138 | 542 | SV | ATM | likely | truncation | splice site 8151+1G>A | NM_000051 | chr11:108205837 | AF:0.41; DP:322 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 | |
1139 | 542 | SV | CDH1 | likely | truncation | splice site 687+2T>C | NM_004360 | chr16:68842753 | AF:0.41; DP:231 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 | |
1140 | 542 | SV | ERBB2 | likely | truncation | R677* | 677 | NM_004448 | chr17:37879654 | AF:0.44; DP:472 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 |
1141 | 542 | SV | FOXP1 | likely | truncation | R525* | 525 | NM_032682 | chr3:71021785 | AF:0.39; DP:390 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 |
1142 | 542 | SV | HIST1H2AM | likely | truncation | T77fs*24 | 77 | NM_003514 | chr6:27860705 | AF:0.4; DP:685 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 |
1143 | 542 | SV | LRP1B | likely | truncation | C881* | 881 | NM_018557 | chr2:141751565 | AF:0.39; DP:532 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 |
1144 | 542 | SV | MLL2 | likely | truncation | R5021* | 5021 | NM_003482 | chr12:49420688 | AF:0.46; DP:441 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 |
1145 | 542 | SV | MSH6 | likely | truncation | R841fs*3 | 841 | NM_000179 | chr2:48027642 | AF:0.97; DP:472 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 |
1146 | 542 | SV | NCOR2 | likely | truncation | R1590* | 1590 | NM_006312 | chr12:124827740 | AF:0.4; DP:334 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 |
1147 | 542 | SV | RAD50 | likely | truncation | R656* | 656 | NM_005732 | chr5:131930733 | AF:0.44; DP:275 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 |
1148 | 542 | SV | RAD51C | likely | truncation | R370* | 370 | NM_058216 | chr17:56811560 | AF:0.41; DP:405 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 |
1149 | 542 | SV | SETD2 | likely | truncation | R2024* | 2024 | NM_014159 | chr3:47108599 | AF:0.42; DP:377 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 |
1150 | 542 | SV | TMEM30A | likely | truncation | Q42* | 42 | NM_018247 | chr6:75994231 | AF:0.39; DP:355 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 |
1151 | 542 | SV | ZMYM3 | likely | truncation | splice site 711+2T>C | NM_005096 | chrX:70471406 | AF:0.49; DP:365 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 | |
1152 | 542 | SV | RUNX1T1 | likely | point | R520H | 520 | NM_001198631 | chr8:92972726 | AF:0.44; DP:359 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 9 |
1153 | 543 | SV | JAK3 | likely | point | R887C | 887 | NM_000215 | chr19:17943349 | AF:0.49; DP:411 | PEDIATRIC | F | SARCOMA | Hemangioendothelioma | v4 | 14 |
1154 | 543 | SV | TSC2 | likely | point | V241I | 241 | NM_000548 | chr16:2106717 | AF:0.53; DP:388 | PEDIATRIC | F | SARCOMA | Hemangioendothelioma | v4 | 14 |
1155 | 544 | SV | MUTYH | likely | point | Y165C | 165 | NM_001048171 | chr1:45798475 | AF:0.44; DP:518 | PEDIATRIC | F | BRAIN | Astrocytoma | v4 | 0 |
1156 | 545 | RE | FGFR1 | likely | rearrangement | FGFR1-FGFR1 duplication | none | chr8:38271368 | SR:43 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 4 | |
1157 | 545 | SV | PIK3CA | likely | point | R38H | 38 | NM_006218 | chr3:178916726 | AF:0.03; DP:454 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 4 |
1158 | 545 | SV | APC | likely | point | P2761L | 2761 | NM_000038 | chr5:112179573 | AF:0.52; DP:565 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 4 |
1159 | 546 | CN | RB1 | likely | deletion | deletion | NM_000321 | chr13:48953758.0 | CN:0 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 12 | |
1160 | 546 | CN | HGF | likely | amplification | amplification | NM_000601 | chr7:81355269.0 | CN:6 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 12 | |
1161 | 547 | RE | ATRX | likely | truncation | ATRX deletion | none | chrX:76907705 | SR:17 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 12 | |
1162 | 547 | RE | ATR | likely | rearrangement | ATR-TBC1D19 rearrangement | none | chr3:142257283 | SR:24 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 12 | |
1163 | 547 | SV | TP53 | likely | point | C238Y | 238 | NM_000546 | chr17:7577568 | AF:0.12; DP:336 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 12 |
1164 | 548 | CN | CCND3 | likely | amplification | amplification | NM_001136017 | chr6:41905052.0 | CN:11 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 18 | |
1165 | 548 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 18 | |
1166 | 548 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 18 | |
1167 | 548 | RE | TP53 | likely | truncation | TP53 truncation | none | chr17:7576893 | SR:699 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 18 | |
1168 | 548 | SV | ATRX | likely | truncation | H1831fs*5 | 1831 | NM_000489 | chrX:76872155 | AF:0.7; DP:315 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 18 |
1169 | 548 | SV | SMARCA4 | likely | truncation | V493fs*3 | 493 | NM_003072 | chr19:11105560 | AF:0.16; DP:580 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 18 |
1170 | 549 | RE | EWSR1 | likely | rearrangement | EWSR1-WT1 fusion | none | chr22:29683055 | SR:150 | PEDIATRIC | M | SARCOMA | DSRC | v4 | 18 | |
1171 | 550 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | SARCOMA | Soft tissue assorted | v4 | 17 | |
1172 | 550 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | SARCOMA | Soft tissue assorted | v4 | 17 | |
1173 | 550 | CN | KDM4C | likely | amplification | amplification | NM_001146696 | chr9:6990470.0 | CN:11 | PEDIATRIC | M | SARCOMA | Soft tissue assorted | v4 | 17 | |
1174 | 550 | RE | NTRK3 | likely | rearrangement | NTRK3-TFG fusion | none | chr15:88576210 | SR:101 | PEDIATRIC | M | SARCOMA | Soft tissue assorted | v4 | 17 | |
1175 | 551 | CN | MAP3K14 | likely | amplification | amplification | NM_003954 | chr17:43350922.0 | CN:6 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 4 | |
1176 | 551 | CN | RPTOR | likely | amplification | amplification | NM_020761 | chr17:78862231.0 | CN:6 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 4 | |
1177 | 551 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:32 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 4 | |
1178 | 553 | CN | SMARCB1 | likely | deletion | deletion | NM_003073 | chr22:24152283.0 | CN:0 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v4 | 12 | |
1179 | 553 | SV | JAK1 | likely | point | S512L | 512 | NM_002227 | chr1:65321305 | AF:0.46; DP:482 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v4 | 12 |
1180 | 554 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:293 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 7 | |
1181 | 554 | SV | CHD2 | likely | truncation | S168fs*1 | 168 | NM_001271 | chr15:93480805 | AF:0.29; DP:291 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 7 |
1182 | 554 | SV | ARID1A | likely | truncation | Q479* | 479 | NM_006015 | chr1:27057727 | AF:0.09; DP:309 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 7 |
1183 | 555 | RE | FOXO1 | likely | rearrangement | FOXO1-PAX3 fusion | none | chr13:41134893 | SR:90 | PEDIATRIC | M | SARCOMA | RMS | v4 | 2 | |
1184 | 555 | RE | PAX3 | likely | rearrangement | PAX3-FARSB rearrangement | none | chr2:223158905 | SR:58 | PEDIATRIC | M | SARCOMA | RMS | v4 | 2 | |
1185 | 556 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | HEME | ALL | v4 | 13 | |
1186 | 556 | RE | TAL1 | likely | rearrangement | TAL1-STIL fusion | none | chr1:47693228 | SR:50 | PEDIATRIC | M | HEME | ALL | v4 | 13 | |
1187 | 556 | SV | PIK3CA | likely | point | L452_I459>PLWARL | 452 | NM_006218 | chr3:178928075 | AF:0.48; DP:181 | PEDIATRIC | M | HEME | ALL | v4 | 13 |
1188 | 557 | RE | FUS | likely | rearrangement | FUS-PTMA rearrangement | none | chr16:31191488 | SR:69 | PEDIATRIC | F | HEME | AML | v4 | 5 | |
1189 | 557 | RE | NOTCH1 | likely | truncation | NOTCH1 truncation | none | chr9:139418328 | SR:59 | PEDIATRIC | F | HEME | AML | v4 | 5 | |
1190 | 557 | SV | RUNX1 | likely | truncation | R207fs*6 | 207 | NM_001754 | chr21:36206892 | AF:0.4; DP:465 | PEDIATRIC | F | HEME | AML | v4 | 5 |
1191 | 558 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v4 | 11 | |
1192 | 559 | SV | CTNNB1 | likely | point | S45F | 45 | NM_001904 | chr3:41266137 | AF:0.32; DP:551 | PEDIATRIC | M | SARCOMA | Soft tissue assorted | v4 | 13 |
1193 | 560 | SV | DNMT3A | likely | point | R792H | 792 | NM_022552 | chr2:25462032 | AF:0.1; DP:396 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 18 |
1194 | 560 | SV | KDM5C | likely | truncation | F1376fs*5+ | 1376 | NM_001146702 | chrX:53221939 | AF:0.09; DP:165 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 18 |
1195 | 560 | SV | DNMT3A | likely | point | R736H | 736 | NM_022552 | chr2:25463286 | AF:0.08; DP:365 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 18 |
1196 | 561 | RE | BRAF | likely | rearrangement | BRAF-KIAA1549 fusion | none | chr7:140487593 | SR:4 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 2 | |
1197 | 562 | SV | FAT1 | likely | point | V1373I | 1373 | NM_005245 | chr4:187557245 | AF:0.51; DP:531 | PEDIATRIC | F | CARCINOMA | Upper GI | v5 | 12 |
1198 | 563 | SV | CCT6B | likely | point | V235I | 235 | NM_006584 | chr17:33269837 | AF:0.57; DP:591 | PEDIATRIC | M | SARCOMA | Angiosarcoma | v4 | 10 |
1199 | 564 | SV | AR | likely | point | Q58L | 58 | NM_000044 | chrX:66765161 | AF:0.41; DP:261 | PEDIATRIC | F | GONADAL TUMORS | Ovarian/Testis | v4 | 10 |
1200 | 564 | SV | ARID1A | likely | truncation | R1528* | 1528 | NM_006015 | chr1:27101300 | AF:0.39; DP:337 | PEDIATRIC | F | GONADAL TUMORS | Ovarian/Testis | v4 | 10 |
1201 | 564 | SV | MLL3 | likely | truncation | K2797fs*26 | 2797 | NM_170606 | chr7:151874147 | AF:0.67; DP:506 | PEDIATRIC | F | GONADAL TUMORS | Ovarian/Testis | v4 | 10 |
1202 | 564 | SV | CHD2 | likely | truncation | K337fs*2 | 337 | NM_001271 | chr15:93486256 | AF:0.32; DP:472 | PEDIATRIC | F | GONADAL TUMORS | Ovarian/Testis | v4 | 10 |
1203 | 564 | SV | PAX5 | likely | truncation | A322fs*11 | 322 | NM_016734 | chr9:36882055 | AF:0.39; DP:273 | PEDIATRIC | F | GONADAL TUMORS | Ovarian/Testis | v4 | 10 |
1204 | 564 | SV | RAD50 | likely | truncation | K722fs*14 | 722 | NM_005732 | chr5:131931451 | AF:0.4; DP:399 | PEDIATRIC | F | GONADAL TUMORS | Ovarian/Testis | v4 | 10 |
1205 | 565 | RE | ALK | likely | rearrangement | ALK-TPM4 fusion | none | chr2:29446301 | SR:1894 | PEDIATRIC | M | SARCOMA | IMTs | v4 | 6 | |
1206 | 566 | RE | EWSR1 | likely | rearrangement | EWSR1-ERG fusion | none | chr22:29683062 | SR:1406 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 15 | |
1207 | 566 | SV | STAG2 | likely | truncation | splice site 3053+1G>A | NM_006603 | chrX:123217400 | AF:0.86; DP:65 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 15 | |
1208 | 566 | SV | CRBN | likely | point | T425M | 425 | NM_016302 | chr3:3192604 | AF:0.47; DP:423 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 15 |
1209 | 567 | CN | NFKBIA | likely | amplification | amplification | NM_020529 | chr14:35872220.0 | CN:20 | PEDIATRIC | M | CARCINOMA | Upper GI | v5 | 18 | |
1210 | 567 | CN | NKX2-1 | likely | amplification | amplification | NM_003317 | chr14:36988546.0 | CN:33 | PEDIATRIC | M | CARCINOMA | Upper GI | v5 | 18 | |
1211 | 567 | CN | STK11 | likely | deletion | deletion | NM_000455 | chr19:1220648.0 | CN:0 | PEDIATRIC | M | CARCINOMA | Upper GI | v5 | 18 | |
1212 | 567 | CN | CCNE1 | likely | amplification | amplification | NM_001238 | chr19:30312185.0 | CN:20 | PEDIATRIC | M | CARCINOMA | Upper GI | v5 | 18 | |
1213 | 567 | SV | TP53 | likely | truncation | F328fs*9 | 328 | NM_000546 | chr17:7576864 | AF:0.39; DP:609 | PEDIATRIC | M | CARCINOMA | Upper GI | v5 | 18 |
1214 | 568 | CN | CHEK2 | likely | deletion | deletion | NM_007194 | chr22:29099523.0 | CN:0 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 7 | |
1215 | 568 | SV | MYCN | likely | point | P44L | 44 | NM_005378 | chr2:16082317 | AF:0.41; DP:552 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 7 |
1216 | 570 | SV | ASXL1 | likely | truncation | G646fs*12 | 646 | NM_015338 | chr20:31022449 | AF:0.29; DP:448 | PEDIATRIC | M | HEME | Lymphoma | v4 | 6 |
1217 | 570 | SV | PTEN | likely | truncation | K267fs*9 | 267 | NM_000314 | chr10:89717774 | AF:0.42; DP:768 | PEDIATRIC | M | HEME | Lymphoma | v4 | 6 |
1218 | 570 | SV | MLL2 | likely | truncation | R2771* | 2771 | NM_003482 | chr12:49433060 | AF:0.37; DP:379 | PEDIATRIC | M | HEME | Lymphoma | v4 | 6 |
1219 | 570 | SV | PTEN | likely | truncation | D268fs*30 | 268 | NM_000314 | chr10:89717775 | AF:0.42; DP:771 | PEDIATRIC | M | HEME | Lymphoma | v4 | 6 |
1220 | 570 | SV | TP53 | likely | truncation | P128fs*42 | 128 | NM_000546 | chr17:7578549 | AF:0.33; DP:426 | PEDIATRIC | M | HEME | Lymphoma | v4 | 6 |
1221 | 570 | SV | APC | likely | truncation | K2413fs*2 | 2413 | NM_000038 | chr5:112178528 | AF:0.46; DP:655 | PEDIATRIC | M | HEME | Lymphoma | v4 | 6 |
1222 | 570 | SV | BCOR | likely | truncation | G943* | 943 | NM_017745 | chrX:39931772 | AF:0.98; DP:316 | PEDIATRIC | M | HEME | Lymphoma | v4 | 6 |
1223 | 570 | SV | CREBBP | likely | truncation | P1946fs*30 | 1946 | NM_004380 | chr16:3779216 | AF:0.44; DP:281 | PEDIATRIC | M | HEME | Lymphoma | v4 | 6 |
1224 | 570 | SV | CREBBP | likely | truncation | S132fs*20 | 132 | NM_004380 | chr16:3900706 | AF:0.47; DP:519 | PEDIATRIC | M | HEME | Lymphoma | v4 | 6 |
1225 | 570 | SV | DNMT3A | likely | truncation | L859fs*5 | 859 | NM_022552 | chr2:25458598 | AF:0.07; DP:565 | PEDIATRIC | M | HEME | Lymphoma | v4 | 6 |
1226 | 570 | SV | IKZF1 | likely | truncation | D285fs*21 | 285 | NM_006060 | chr7:50467617 | AF:0.46; DP:378 | PEDIATRIC | M | HEME | Lymphoma | v4 | 6 |
1227 | 570 | SV | MLH1 | likely | truncation | I740fs*6 | 740 | NM_000249 | chr3:37092091 | AF:0.93; DP:485 | PEDIATRIC | M | HEME | Lymphoma | v4 | 6 |
1228 | 570 | SV | NCOR2 | likely | truncation | Q913fs*51 | 913 | NM_006312 | chr12:124856642 | AF:0.52; DP:304 | PEDIATRIC | M | HEME | Lymphoma | v4 | 6 |
1229 | 570 | SV | NF1 | likely | truncation | Y628fs*3 | 628 | NM_001042492 | chr17:29552148 | AF:0.45; DP:453 | PEDIATRIC | M | HEME | Lymphoma | v4 | 6 |
1230 | 570 | SV | RAD50 | likely | truncation | R1077* | 1077 | NM_005732 | chr5:131953826 | AF:0.36; DP:574 | PEDIATRIC | M | HEME | Lymphoma | v4 | 6 |
1231 | 570 | SV | SUZ12 | likely | truncation | N706fs*8 | 706 | NM_015355 | chr17:30325919 | AF:0.06; DP:751 | PEDIATRIC | M | HEME | Lymphoma | v4 | 6 |
1232 | 570 | SV | TRAF3 | likely | truncation | H221fs*12 | 221 | NM_003300 | chr14:103355906 | AF:0.48; DP:499 | PEDIATRIC | M | HEME | Lymphoma | v4 | 6 |
1233 | 571 | RE | NSD1 | likely | rearrangement | NSD1-NUP98 fusion | none | chr5:176639190 | SR:200 | PEDIATRIC | M | HEME | AML | v4 | 12 | |
1234 | 571 | SV | WT1 | likely | truncation | R370fs*15 | 370 | NM_024426 | chr11:32417945 | AF:0.08; DP:281 | PEDIATRIC | M | HEME | AML | v4 | 12 |
1235 | 571 | SV | WT1 | likely | truncation | A382fs*67 | 382 | NM_024426 | chr11:32417908 | AF:0.09; DP:351 | PEDIATRIC | M | HEME | AML | v4 | 12 |
1236 | 573 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:333 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 8 | |
1237 | 573 | SV | IDH2 | likely | point | R140Q | 140 | NM_002168 | chr15:90631934 | AF:0.17; DP:351 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 8 |
1238 | 574 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:42 | PEDIATRIC | F | SARCOMA | RMS | v4 | 14 | |
1239 | 574 | RE | FOXO1 | likely | rearrangement | FOXO1-PAX7 fusion | none | chr13:41134891 | SR:2020 | PEDIATRIC | F | SARCOMA | RMS | v4 | 14 | |
1240 | 576 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | BRAIN | Astrocytoma | v4 | 4 | |
1241 | 576 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | BRAIN | Astrocytoma | v4 | 4 | |
1242 | 576 | SV | BRAF | likely | point | V600E | 600 | NM_004333 | chr7:140453136 | AF:0.39; DP:581 | PEDIATRIC | M | BRAIN | Astrocytoma | v4 | 4 |
1243 | 576 | SV | TSC1 | likely | truncation | V831fs*22 | 831 | NM_000368 | chr9:135776994 | AF:0.15; DP:352 | PEDIATRIC | M | BRAIN | Astrocytoma | v4 | 4 |
1244 | 577 | CN | FGFR2 | likely | amplification | amplification | NM_000141 | chr10:123263379.0 | CN:11 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 5 | |
1245 | 577 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:323 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 5 | |
1246 | 578 | SV | FLT3 | likely | point | Y589H | 589 | NM_004119 | chr13:28608291 | AF:0.09; DP:467 | PEDIATRIC | F | HEME | ALL | v4 | 3 |
1247 | 579 | RE | NUP214 | likely | rearrangement | NUP214-SET fusion | none | chr9:134034821 | SR:3421 | PEDIATRIC | M | HEME | AML | v4 | 17 | |
1248 | 579 | RE | CRLF2 | likely | rearrangement | CRLF2-P2RY8 fusion | none | chrX:1327739 | SR:77 | PEDIATRIC | M | HEME | AML | v4 | 17 | |
1249 | 580 | SV | SPTA1 | likely | point | R1694H | 1694 | NM_003126 | chr1:158607931 | AF:0.48; DP:476 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v5 | 17 |
1250 | 581 | CN | HRAS | likely | amplification | amplification | NM_005343 | chr11:533532.0 | CN:22 | PEDIATRIC | F | SARCOMA | RMS | v4 | 10 | |
1251 | 581 | SV | TP53 | likely | point | H179D | 179 | NM_000546 | chr17:7578395 | AF:0.88; DP:373 | PEDIATRIC | F | SARCOMA | RMS | v4 | 10 |
1252 | 581 | SV | HRAS | likely | point | G12C | 12 | NM_005343 | chr11:534289 | AF:0.83; DP:1808 | PEDIATRIC | F | SARCOMA | RMS | v4 | 10 |
1253 | 582 | CN | EGFR | likely | amplification | amplification | NM_005228 | chr7:55234642.0 | CN:20 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 7 | |
1254 | 582 | SV | NF1 | likely | truncation | Y2285fs*5 | 2285 | NM_001042492 | chr17:29665753 | AF:0.15; DP:293 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 7 |
1255 | 582 | SV | TP53 | likely | truncation | Y107* | 107 | NM_000546 | chr17:7579366 | AF:0.46; DP:361 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 7 |
1256 | 582 | SV | PIK3CA | likely | point | G1049R | 1049 | NM_006218 | chr3:178952090 | AF:0.06; DP:693 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 7 |
1257 | 582 | SV | CD36 | likely | truncation | N53fs*24 | 53 | NM_000072 | chr7:80285892 | AF:0.74; DP:387 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 7 |
1258 | 582 | SV | CD36 | likely | truncation | Q74* | 74 | NM_000072 | chr7:80285955 | AF:0.24; DP:401 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 7 |
1259 | 582 | SV | PTEN | likely | truncation | splice site 492+2T>G | NM_000314 | chr10:89693010 | AF:0.1; DP:377 | PEDIATRIC | F | BRAIN | Glioblastoma | v4 | 7 | |
1260 | 583 | CN | SMARCB1 | likely | deletion | deletion | NM_003073 | chr22:24152283.0 | CN:0 | PEDIATRIC | M | BRAIN | Atypical Teratoid Rhaboid Tumor (ATRT) | v4 | 1 | |
1261 | 583 | SV | MUTYH | likely | point | Y165C | 165 | NM_001048171 | chr1:45798475 | AF:0.47; DP:531 | PEDIATRIC | M | BRAIN | Atypical Teratoid Rhaboid Tumor (ATRT) | v4 | 1 |
1262 | 584 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:166 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 3 | |
1263 | 585 | SV | STAG2 | likely | truncation | splice site 819+2T>C | NM_006603 | chrX:123181357 | AF:0.82; DP:314 | PEDIATRIC | M | HEME | AML | v4 | 11 | |
1264 | 585 | SV | U2AF1 | likely | point | Q157R | 157 | NM_006758 | chr21:44514777 | AF:0.44; DP:923 | PEDIATRIC | M | HEME | AML | v4 | 11 |
1265 | 585 | SV | PHF6 | likely | truncation | splice site 969-2A>G | NM_032458 | chrX:133559229 | AF:0.78; DP:440 | PEDIATRIC | M | HEME | AML | v4 | 11 | |
1266 | 585 | SV | SETBP1 | likely | point | S869G | 869 | NM_015559 | chr18:42531910 | AF:0.42; DP:950 | PEDIATRIC | M | HEME | AML | v4 | 11 |
1267 | 585 | SV | NRAS | likely | point | Q61R | 61 | NM_002524 | chr1:115256529 | AF:0.4; DP:549 | PEDIATRIC | M | HEME | AML | v4 | 11 |
1268 | 585 | SV | ASXL1 | likely | truncation | G646fs*12 | 646 | NM_015338 | chr20:31022449 | AF:0.29; DP:594 | PEDIATRIC | M | HEME | AML | v4 | 11 |
1269 | 585 | SV | GRIN2A | likely | point | D1035N | 1035 | NM_000833 | chr16:9858298 | AF:0.46; DP:888 | PEDIATRIC | M | HEME | AML | v4 | 11 |
1270 | 586 | CN | IRS2 | likely | amplification | amplification | NM_003749 | chr13:110421551.0 | CN:81 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 | |
1271 | 586 | CN | CDK6 | likely | amplification | amplification | NM_001259 | chr7:92300794.0 | CN:276 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 | |
1272 | 586 | SV | TP53 | likely | truncation | F54fs*1 | 54 | NM_000546 | chr17:7579504 | AF:0.7; DP:198 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
1273 | 586 | SV | PTPN11 | likely | point | A461G | 461 | NM_002834 | chr12:112926249 | AF:0.79; DP:256 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
1274 | 587 | SV | EGFR | likely | point | H773_V774insNPH | 773 | NM_005228 | chr7:55249021 | AF:0.07; DP:269 | PEDIATRIC | M | CARCINOMA | Lung | v5 | 14 |
1275 | 588 | SV | PIK3CA | likely | point | E542K | 542 | NM_006218 | chr3:178936082 | AF:0.06; DP:302 | PEDIATRIC | M | HEME | ALL | v4 | 15 |
1276 | 589 | RE | JAK2 | likely | rearrangement | JAK2-PCM1 fusion | none | chr9:5055718 | SR:778 | PEDIATRIC | M | HEME | ALL | v4 | 17 | |
1277 | 589 | SV | CD36 | likely | truncation | N53fs*24 | 53 | NM_000072 | chr7:80285892 | AF:0.45; DP:497 | PEDIATRIC | M | HEME | ALL | v4 | 17 |
1278 | 589 | SV | FBXO11 | likely | truncation | P62fs*22 | 62 | NM_001190274 | chr2:48132677 | AF:0.19; DP:166 | PEDIATRIC | M | HEME | ALL | v4 | 17 |
1279 | 590 | RE | FGFR3 | likely | rearrangement | FGFR3-TACC3 fusion | none | chr4:1808611 | SR:100 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 3 | |
1280 | 590 | SV | PIK3CG | likely | point | D238N | 238 | NM_002649 | chr7:106508718 | AF:0.52; DP:800 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 3 |
1281 | 591 | SV | STK11 | likely | point | F298L | 298 | NM_000455 | chr19:1221979 | AF:0.55; DP:332 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v5 | 15 |
1282 | 593 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 18 | |
1283 | 593 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 18 | |
1284 | 594 | SV | BRAF | likely | point | V600E | 600 | NM_004333 | chr7:140453136 | AF:0.13; DP:511 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 17 |
1285 | 595 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:114 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 2 | |
1286 | 595 | SV | ALK | likely | point | F1174L | 1174 | NM_004304 | chr2:29443695 | AF:0.05; DP:397 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 2 |
1287 | 595 | SV | HRAS | likely | point | G13V | 13 | NM_005343 | chr11:534285 | AF:0.5; DP:907 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 2 |
1288 | 595 | SV | AR | likely | point | Q58L | 58 | NM_000044 | chrX:66765161 | AF:0.43; DP:249 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 2 |
1289 | 596 | SV | ALK | likely | point | F1245C | 1245 | NM_004304 | chr2:29436859 | AF:0.1; DP:462 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 1 |
1290 | 596 | SV | FBXW7 | likely | point | E113del | 113 | NM_033632 | chr4:153332616 | AF:0.33; DP:602 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 1 |
1291 | 596 | SV | EPHB6 | likely | point | R826C | 826 | NM_004445 | chr7:142567588 | AF:0.48; DP:477 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 1 |
1292 | 597 | RE | BRAF | likely | rearrangement | BRAF-KIAA1549 fusion | none | chr7:140491331 | SR:17 | PEDIATRIC | M | BRAIN | Astrocytoma | v4 | 3 | |
1293 | 598 | CN | ATRX | likely | deletion | deletion | NM_000489 | chrX:76889127.0 | CN:0 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 4 | |
1294 | 599 | SV | SLIT2 | likely | point | P926L | 926 | NM_004787 | chr4:20568936 | AF:0.51; DP:418 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 1 |
1295 | 600 | CN | AKT1 | likely | amplification | amplification | NM_001014431 | chr14:105240283.0 | CN:11 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 17 | |
1296 | 600 | CN | C17orf39 | likely | amplification | amplification | NM_024052 | chr17:17959863.0 | CN:8 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 17 | |
1297 | 600 | CN | AURKB | likely | amplification | amplification | NM_004217 | chr17:8110350.0 | CN:9 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 17 | |
1298 | 600 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:7 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 17 | |
1299 | 601 | SV | CTNNB1 | likely | point | S45C | 45 | NM_001904 | chr3:41266137 | AF:0.48; DP:588 | PEDIATRIC | F | CARCINOMA | Adrenal | v5 | 14 |
1300 | 601 | SV | FLT3 | likely | point | A953V | 953 | NM_004119 | chr13:28588590 | AF:0.58; DP:566 | PEDIATRIC | F | CARCINOMA | Adrenal | v5 | 14 |
1301 | 601 | SV | EPHB6 | likely | point | S842C | 842 | NM_004445 | chr7:142567636 | AF:0.1; DP:616 | PEDIATRIC | F | CARCINOMA | Adrenal | v5 | 14 |
1302 | 601 | SV | RANBP2 | likely | point | L811R | 811 | NM_006267 | chr2:109371681 | AF:0.01; DP:421 | PEDIATRIC | F | CARCINOMA | Adrenal | v5 | 14 |
1303 | 601 | SV | TP53 | likely | truncation | G105fs*18 | 105 | NM_000546 | chr17:7579374 | AF:0.49; DP:486 | PEDIATRIC | F | CARCINOMA | Adrenal | v5 | 14 |
1304 | 601 | SV | BARD1 | likely | truncation | E19* | 19 | NM_000465 | chr2:215674239 | AF:0.51; DP:284 | PEDIATRIC | F | CARCINOMA | Adrenal | v5 | 14 |
1305 | 602 | CN | KRAS | likely | amplification | amplification | NM_004985 | chr12:25378627.0 | CN:9 | PEDIATRIC | M | CARCINOMA | Upper GI | v5 | 15 | |
1306 | 602 | SV | STK11 | likely | point | F354L | 354 | NM_000455 | chr19:1223125 | AF:0.5; DP:525 | PEDIATRIC | M | CARCINOMA | Upper GI | v5 | 15 |
1307 | 602 | SV | PIK3CA | likely | point | E542K | 542 | NM_006218 | chr3:178936082 | AF:0.02; DP:366 | PEDIATRIC | M | CARCINOMA | Upper GI | v5 | 15 |
1308 | 602 | SV | CDKN2A | likely | point | V126D | 126 | NM_000077 | chr9:21970981 | AF:0.54; DP:464 | PEDIATRIC | M | CARCINOMA | Upper GI | v5 | 15 |
1309 | 603 | SV | PIK3CA | likely | point | E545K | 545 | NM_006218 | chr3:178936091 | AF:0.02; DP:557 | PEDIATRIC | F | CARCINOMA | Gyn carcinoma | v5 | 17 |
1310 | 603 | SV | SMAD4 | likely | point | E330Q | 330 | NM_005359 | chr18:48591825 | AF:0.01; DP:541 | PEDIATRIC | F | CARCINOMA | Gyn carcinoma | v5 | 17 |
1311 | 603 | SV | SMAD4 | likely | point | R361C | 361 | NM_005359 | chr18:48591918 | AF:0.02; DP:626 | PEDIATRIC | F | CARCINOMA | Gyn carcinoma | v5 | 17 |
1312 | 605 | CN | ERBB2 | likely | amplification | amplification | NM_004448 | chr17:37872813.0 | CN:6 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 5 | |
1313 | 605 | SV | REL | likely | point | R421C | 421 | NM_002908 | chr2:61149071 | AF:0.49; DP:725 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 5 |
1314 | 606 | SV | PTPN11 | likely | point | D61V | 61 | NM_002834 | chr12:112888166 | AF:0.07; DP:404 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 8 |
1315 | 608 | CN | NUP98 | likely | deletion | deletion | NM_016320 | chr11:3741357.0 | CN:0 | PEDIATRIC | M | HEME | AML | v4 | 18 | |
1316 | 608 | RE | NSD1 | likely | rearrangement | NSD1-NUP98 fusion | none | chr5:176662859 | SR:495 | PEDIATRIC | M | HEME | AML | v4 | 18 | |
1317 | 608 | SV | RUNX1 | likely | point | T92_P95del | 92 | NM_001754 | chr21:36259206 | AF:0.44; DP:252 | PEDIATRIC | M | HEME | AML | v4 | 18 |
1318 | 608 | SV | NRAS | likely | point | G12S | 12 | NM_002524 | chr1:115258748 | AF:0.4; DP:405 | PEDIATRIC | M | HEME | AML | v4 | 18 |
1319 | 608 | SV | FLT3 | likely | point | E604_F605>DLFYVDFREYEYDLKW | 604 | NM_004119 | chr13:28608214 | AF:0.04; DP:427 | PEDIATRIC | M | HEME | AML | v4 | 18 |
1320 | 608 | SV | CCND2 | likely | point | P281R | 281 | NM_001759 | chr12:4409147 | AF:0.05; DP:405 | PEDIATRIC | M | HEME | AML | v4 | 18 |
1321 | 609 | CN | PDGFRA | likely | amplification | amplification | NM_006206 | chr4:55139897.0 | CN:49 | PEDIATRIC | F | BRAIN | Glioma | v5 | 7 | |
1322 | 609 | SV | TP53 | likely | point | R273C | 273 | NM_000546 | chr17:7577121 | AF:0.88; DP:511 | PEDIATRIC | F | BRAIN | Glioma | v5 | 7 |
1323 | 609 | SV | H3F3A | likely | point | K28M | 28 | NM_002107 | chr1:226252135 | AF:0.44; DP:311 | PEDIATRIC | F | BRAIN | Glioma | v5 | 7 |
1324 | 610 | RE | MLL | likely | rearrangement | MLL-MLL rearrangement | none | chr11:118352618 | SR:60 | PEDIATRIC | M | HEME | MDS and/or MPN | v4 | 16 | |
1325 | 610 | SV | WT1 | likely | truncation | A382fs*5 | 382 | NM_024426 | chr11:32417916 | AF:0.45; DP:154 | PEDIATRIC | M | HEME | MDS and/or MPN | v4 | 16 |
1326 | 610 | SV | RUNX1 | likely | truncation | H378fs*105+ | 378 | NM_001754 | chr21:36164745 | AF:0.41; DP:173 | PEDIATRIC | M | HEME | MDS and/or MPN | v4 | 16 |
1327 | 611 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | HEME | AML | v4 | 15 | |
1328 | 611 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | HEME | AML | v4 | 15 | |
1329 | 611 | CN | KDM6A | likely | deletion | deletion | NM_021140 | chrX:44921942.0 | CN:0 | PEDIATRIC | M | HEME | AML | v4 | 15 | |
1330 | 611 | RE | MLLT10 | likely | rearrangement | MLLT10-DDX3Y fusion | none | chr10:21940626 | SR:155 | PEDIATRIC | M | HEME | AML | v4 | 15 | |
1331 | 611 | SV | JAK1 | likely | point | A634D | 634 | NM_002227 | chr1:65312418 | AF:0.46; DP:340 | PEDIATRIC | M | HEME | AML | v4 | 15 |
1332 | 611 | SV | JAK1 | likely | point | V658L | 658 | NM_002227 | chr1:65312347 | AF:0.44; DP:402 | PEDIATRIC | M | HEME | AML | v4 | 15 |
1333 | 612 | CN | TSC1 | likely | deletion | deletion | NM_000368 | chr9:135782722.0 | CN:0 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 6 | |
1334 | 613 | SV | ARID1A | likely | point | A343_A348>A | 343 | NM_006015 | chr1:27023922 | AF:0.42; DP:171 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 3 |
1335 | 613 | SV | PRKDC | likely | truncation | R1155* | 1155 | NM_006904 | chr8:48811031 | AF:0.2; DP:635 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 3 |
1336 | 614 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | HEME | ALL | v4 | 8 | |
1337 | 614 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | HEME | ALL | v4 | 8 | |
1338 | 614 | RE | ETV6 | likely | rearrangement | ETV6-RUNX1 fusion | none | chr12:12022630 | SR:678 | PEDIATRIC | M | HEME | ALL | v4 | 8 | |
1339 | 614 | SV | CDKN2B | likely | truncation | G47fs*40 | 47 | NM_004936 | chr9:22008818 | AF:0.33; DP:269 | PEDIATRIC | M | HEME | ALL | v4 | 8 |
1340 | 615 | RE | EWSR1 | likely | rearrangement | EWSR1-FLI1 fusion | none | chr22:29683076 | SR:155 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 14 | |
1341 | 616 | CN | SMARCB1 | likely | deletion | deletion | NM_003073 | chr22:24152283.0 | CN:0 | PEDIATRIC | F | BRAIN | Atypical Teratoid Rhaboid Tumor (ATRT) | v4 | 4 | |
1342 | 616 | SV | NF2 | likely | truncation | Q407fs*21 | 407 | NM_000268 | chr22:30069354 | AF:0.77; DP:504 | PEDIATRIC | F | BRAIN | Atypical Teratoid Rhaboid Tumor (ATRT) | v4 | 4 |
1343 | 617 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | SARCOMA | Fibrosarcoma | v4 | 1 | |
1344 | 617 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | SARCOMA | Fibrosarcoma | v4 | 1 | |
1345 | 617 | RE | NTRK1 | likely | rearrangement | NTRK1-LMNA fusion | none | chr1:156845350 | SR:367 | PEDIATRIC | M | SARCOMA | Fibrosarcoma | v4 | 1 | |
1346 | 619 | CN | CCND3 | likely | amplification | amplification | NM_001136017 | chr6:41905052.0 | CN:11 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 13 | |
1347 | 619 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 13 | |
1348 | 619 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 13 | |
1349 | 620 | RE | PALB2 | likely | truncation | PALB2 truncation | none | chr16:23646485 | SR:141 | PEDIATRIC | M | SARCOMA | Synovial | v5 | 17 | |
1350 | 621 | SV | CTNNB1 | likely | point | S45F | 45 | NM_001904 | chr3:41266137 | AF:0.48; DP:510 | PEDIATRIC | F | SARCOMA | Fibromatosis | v5 | 15 |
1351 | 622 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | HEME | AML | v4 | 7 | |
1352 | 622 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | HEME | AML | v4 | 7 | |
1353 | 622 | RE | MLLT10 | likely | rearrangement | MLLT10-MLL fusion | none | chr10:22015215 | SR:405 | PEDIATRIC | M | HEME | AML | v4 | 7 | |
1354 | 622 | SV | PTPN11 | likely | point | T507K | 507 | NM_002834 | chr12:112926900 | AF:0.25; DP:375 | PEDIATRIC | M | HEME | AML | v4 | 7 |
1355 | 622 | SV | PTPN11 | likely | point | A72T | 72 | NM_002834 | chr12:112888198 | AF:0.24; DP:533 | PEDIATRIC | M | HEME | AML | v4 | 7 |
1356 | 623 | RE | SS18 | likely | rearrangement | SS18-SSX1 fusion | none | chr18:23612393 | SR:255 | PEDIATRIC | F | SARCOMA | Synovial | v4 | 16 | |
1357 | 623 | SV | PIK3CA | likely | point | E542K | 542 | NM_006218 | chr3:178936082 | AF:0.2; DP:340 | PEDIATRIC | F | SARCOMA | Synovial | v4 | 16 |
1358 | 625 | RE | PBX1 | likely | rearrangement | PBX1-TCF3 fusion | none | chr1:164761786 | SR:4269 | PEDIATRIC | F | HEME | ALL | v4 | 13 | |
1359 | 625 | SV | XPO1 | likely | point | E571K | 571 | NM_003400 | chr2:61719472 | AF:0.11; DP:360 | PEDIATRIC | F | HEME | ALL | v4 | 13 |
1360 | 625 | SV | TP53 | likely | point | R248Q | 248 | NM_000546 | chr17:7577538 | AF:0.02; DP:397 | PEDIATRIC | F | HEME | ALL | v4 | 13 |
1361 | 626 | SV | MAP2K1 | likely | point | Q58_E62del | 58 | NM_002755 | chr15:66727456 | AF:0.09; DP:901 | PEDIATRIC | M | HEME | Histiocytic neoplasm | v4 | 16 |
1362 | 627 | CN | IRS2 | likely | amplification | amplification | NM_003749 | chr13:110421551.0 | CN:12 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 18 | |
1363 | 627 | CN | RB1 | likely | deletion | deletion | NM_000321 | chr13:48953758.0 | CN:0 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 18 | |
1364 | 627 | CN | MAP2K1 | likely | amplification | amplification | NM_002755 | chr15:66774155.0 | CN:9 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 18 | |
1365 | 627 | CN | IGF1R | likely | amplification | amplification | NM_000875 | chr15:99465518.0 | CN:16 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 18 | |
1366 | 627 | CN | C17orf39 | likely | amplification | amplification | NM_024052 | chr17:17959863.0 | CN:10 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 18 | |
1367 | 627 | CN | MCL1 | likely | amplification | amplification | NM_182763 | chr1:150550843.0 | CN:9 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 18 | |
1368 | 627 | CN | CKS1B | likely | amplification | amplification | NM_001826 | chr1:154950877.0 | CN:9 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 18 | |
1369 | 627 | CN | CCND3 | likely | amplification | amplification | NM_001136017 | chr6:41905052.0 | CN:7 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 18 | |
1370 | 627 | CN | BRAF | likely | amplification | amplification | NM_004333 | chr7:140485129.0 | CN:8 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 18 | |
1371 | 627 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:13 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 18 | |
1372 | 627 | CN | STAG2 | likely | deletion | deletion | NM_006603 | chrX:123197010.0 | CN:0 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 18 | |
1373 | 627 | RE | TP53 | likely | truncation | TP53 truncation | none | chr17:7576860 | SR:50 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 18 | |
1374 | 627 | SV | ATM | likely | truncation | S2812fs*3 | 2812 | NM_000051 | chr11:108216483 | AF:0.23; DP:318 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 18 |
1375 | 627 | SV | SPEN | likely | truncation | splice site 84-2A>T | NM_015001 | chr1:16199309 | AF:0.12; DP:661 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 18 | |
1376 | 628 | SV | NRAS | likely | point | Q61H | 61 | NM_002524 | chr1:115256528 | AF:0.05; DP:506 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 |
1377 | 628 | SV | SMAD4 | likely | point | P295L | 295 | NM_005359 | chr18:48584806 | AF:0.48; DP:656 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 |
1378 | 629 | CN | CIC | likely | deletion | deletion | NM_015125 | chr19:42795664.0 | CN:0 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 8 | |
1379 | 630 | SV | CTNNB1 | likely | point | S45F | 45 | NM_001904 | chr3:41266137 | AF:0.08; DP:570 | PEDIATRIC | F | SARCOMA | Fibromatosis | v5 | 4 |
1380 | 631 | SV | PIK3CA | likely | point | C604R | 604 | NM_006218 | chr3:178937422 | AF:0.4; DP:199 | PEDIATRIC | F | BRAIN | PNET | v5 | 10 |
1381 | 631 | SV | DIS3 | likely | point | D458N | 458 | NM_001128226 | chr13:73346338 | AF:0.44; DP:481 | PEDIATRIC | F | BRAIN | PNET | v5 | 10 |
1382 | 632 | RE | ALK | likely | rearrangement | ALK-CLTC fusion | none | chr2:29448094 | SR:10 | PEDIATRIC | M | SARCOMA | IMTs | v4 | 13 | |
1383 | 633 | SV | BRAF | likely | point | V600E | 600 | NM_004333 | chr7:140453136 | AF:0.37; DP:470 | PEDIATRIC | M | BRAIN | Astrocytoma | v4 | 13 |
1384 | 634 | SV | NRAS | likely | point | G12S | 12 | NM_002524 | chr1:115258748 | AF:0.16; DP:398 | PEDIATRIC | M | HEME | ALL | v4 | 18 |
1385 | 634 | SV | NRAS | likely | point | G12A | 12 | NM_002524 | chr1:115258747 | AF:0.21; DP:396 | PEDIATRIC | M | HEME | ALL | v4 | 18 |
1386 | 635 | CN | MDM4 | likely | amplification | amplification | NM_002393 | chr1:204506988.0 | CN:12 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v4 | 3 | |
1387 | 635 | SV | ZRSR2 | likely | point | R449del | 449 | NM_005089 | chrX:15841259 | AF:0.09; DP:472 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v4 | 3 |
1388 | 635 | SV | CTNNB1 | likely | point | D32Y | 32 | NM_001904 | chr3:41266097 | AF:0.21; DP:632 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v4 | 3 |
1389 | 636 | RE | BRAF | likely | rearrangement | BRAF-KIAA1549 fusion | none | chr7:140490889 | SR:30 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 7 | |
1390 | 637 | CN | SMARCB1 | likely | deletion | deletion | NM_003073 | chr22:24152283.0 | CN:0 | PEDIATRIC | M | BRAIN | Atypical Teratoid Rhaboid Tumor (ATRT) | v4 | 13 | |
1391 | 638 | RE | BRAF | likely | rearrangement | BRAF-KIAA1549 fusion | none | chr7:140487878 | SR:29 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 7 | |
1392 | 638 | SV | MDM4 | likely | point | S367L | 367 | NM_002393 | chr1:204518437 | AF:0.5; DP:808 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 7 |
1393 | 639 | SV | SMARCA4 | likely | truncation | R1618* | 1618 | NM_003072 | chr19:11170804 | AF:0.88; DP:203 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 9 |
1394 | 639 | SV | TP53 | likely | point | R337C | 337 | NM_000546 | chr17:7574018 | AF:0.07; DP:375 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 9 |
1395 | 640 | SV | BRAF | likely | point | V600E | 600 | NM_004333 | chr7:140453136 | AF:0.14; DP:443 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 17 |
1396 | 640 | SV | FAS | likely | truncation | K61fs*53 | 61 | NM_000043 | chr10:90762936 | AF:0.47; DP:485 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 17 |
1397 | 640 | SV | ASXL1 | likely | point | V1367I | 1367 | NM_015338 | chr20:31024614 | AF:0.49; DP:617 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 17 |
1398 | 641 | RE | RET | likely | rearrangement | RET-NCOA4 fusion | none | chr10:43611791 | SR:31 | PEDIATRIC | M | CARCINOMA | Thyroid | v5 | 10 | |
1399 | 642 | SV | CTNNB1 | likely | point | G34V | 34 | NM_001904 | chr3:41266104 | AF:0.26; DP:646 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v4 | 2 |
1400 | 642 | SV | POT1 | likely | truncation | splice site 1164-1G>A | NM_015450 | chr7:124481233 | AF:0.52; DP:406 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v4 | 2 | |
1401 | 643 | CN | TP53 | likely | deletion | deletion | NM_000546 | chr17:7577322.0 | CN:0 | PEDIATRIC | F | HEME | AML | v4 | 3 | |
1402 | 644 | CN | PDGFRB | likely | amplification | amplification | NM_002609 | chr5:149504707.0 | CN:11 | PEDIATRIC | M | CARCINOMA | Lower GI | v5 | 14 | |
1403 | 644 | CN | SMAD4 | likely | deletion | deletion | NM_005359 | chr18:48584768.0 | CN:0 | PEDIATRIC | M | CARCINOMA | Lower GI | v5 | 14 | |
1404 | 644 | CN | CDH1 | likely | deletion | deletion | NM_004360 | chr16:68846691.0 | CN:0 | PEDIATRIC | M | CARCINOMA | Lower GI | v5 | 14 | |
1405 | 644 | CN | KRAS | likely | amplification | amplification | NM_004985 | chr12:25378627.0 | CN:29 | PEDIATRIC | M | CARCINOMA | Lower GI | v5 | 14 | |
1406 | 644 | SV | SMAD4 | likely | point | R361H | 361 | NM_005359 | chr18:48591919 | AF:0.07; DP:221 | PEDIATRIC | M | CARCINOMA | Lower GI | v5 | 14 |
1407 | 644 | SV | ATM | likely | truncation | W2638* | 2638 | NM_000051 | chr11:108203613 | AF:0.68; DP:242 | PEDIATRIC | M | CARCINOMA | Lower GI | v5 | 14 |
1408 | 644 | SV | ATM | likely | truncation | H183fs*6 | 183 | NM_000051 | chr11:108114731 | AF:0.7; DP:244 | PEDIATRIC | M | CARCINOMA | Lower GI | v5 | 14 |
1409 | 644 | SV | RNF43 | likely | truncation | Q153* | 153 | NM_017763 | chr17:56440761 | AF:0.74; DP:519 | PEDIATRIC | M | CARCINOMA | Lower GI | v5 | 14 |
1410 | 646 | SV | TP53 | likely | point | R248W | 248 | NM_000546 | chr17:7577539 | AF:0.27; DP:442 | PEDIATRIC | M | CARCINOMA | Head and neck | v5 | 17 |
1411 | 647 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:301 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 4 | |
1412 | 647 | SV | ALK | likely | point | R1275Q | 1275 | NM_004304 | chr2:29432664 | AF:0.5; DP:555 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 4 |
1413 | 647 | SV | BRIP1 | likely | truncation | R798* | 798 | NM_032043 | chr17:59793412 | AF:0.29; DP:715 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 4 |
1414 | 648 | CN | SOX2 | likely | amplification | amplification | NM_003106 | chr3:181430625.0 | CN:12 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 15 | |
1415 | 648 | CN | MET | likely | amplification | amplification | NM_000245 | chr7:116406510.0 | CN:22 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 15 | |
1416 | 648 | SV | TP53 | likely | point | R175H | 175 | NM_000546 | chr17:7578406 | AF:0.88; DP:621 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 15 |
1417 | 648 | SV | H3F3A | likely | point | G35V | 35 | NM_002107 | chr1:226252156 | AF:0.4; DP:392 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 15 |
1418 | 648 | SV | ATRX | likely | truncation | R1514* | 1514 | NM_000489 | chrX:76907621 | AF:0.87; DP:393 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 15 |
1419 | 648 | SV | MET | likely | truncation | splice site 2888-88_2930del131 | NM_000245 | chr7:116411814 | AF:0.11; DP:1925 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 15 | |
1420 | 649 | CN | CDK4 | likely | amplification | amplification | NM_000075 | chr12:58144493.0 | CN:20 | PEDIATRIC | M | SARCOMA | RMS | v4 | 13 | |
1421 | 649 | SV | EP300 | likely | truncation | Q1991fs*82 | 1991 | NM_001429 | chr22:41573687 | AF:0.25; DP:467 | PEDIATRIC | M | SARCOMA | RMS | v4 | 13 |
1422 | 650 | SV | AKT1 | likely | point | E17K | 17 | NM_001014431 | chr14:105246551 | AF:0.63; DP:305 | PEDIATRIC | F | GONADAL TUMORS | Ovarian/Testis | v5 | 15 |
1423 | 650 | SV | KRAS | likely | point | G12V | 12 | NM_004985 | chr12:25398284 | AF:0.5; DP:931 | PEDIATRIC | F | GONADAL TUMORS | Ovarian/Testis | v5 | 15 |
1424 | 651 | SV | CEBPA | likely | point | Q311_Q312insQKVLELTSE | 311 | NM_004364 | chr19:33792389 | AF:0.13; DP:469 | PEDIATRIC | M | HEME | AML | v4 | 15 |
1425 | 651 | SV | CEBPA | likely | truncation | T98fs*10 | 98 | NM_004364 | chr19:33793033 | AF:0.16; DP:225 | PEDIATRIC | M | HEME | AML | v4 | 15 |
1426 | 651 | SV | EED | likely | truncation | H295fs*21 | 295 | NM_003797 | chr11:85979519 | AF:0.11; DP:478 | PEDIATRIC | M | HEME | AML | v4 | 15 |
1427 | 652 | SV | NOTCH4 | likely | truncation | splice site 2320+1G>A | NM_004557 | chr6:32181464 | AF:0.68; DP:522 | PEDIATRIC | M | CARCINOMA | Lung | v5 | 16 | |
1428 | 654 | RE | BRAF | likely | rearrangement | BRAF-KIAA1549 fusion | none | chr7:140481432 | SR:58 | PEDIATRIC | F | BRAIN | Astrocytoma | v4 | 2 | |
1429 | 656 | SV | GATA1 | likely | point | Y62_Y63>*LAYY | NM_002049 | chrX:48649701 | AF:0.35; DP:341 | PEDIATRIC | F | HEME | MDS and/or MPN | v4 | 0 | |
1430 | 657 | RE | MYH11 | likely | rearrangement | MYH11-CBFB fusion | none | chr16:15814823 | SR:577 | PEDIATRIC | M | HEME | AML | v4 | 4 | |
1431 | 657 | SV | KIT | likely | point | Y418_D419>S | 418 | NM_000222 | chr4:55589772 | AF:0.25; DP:562 | PEDIATRIC | M | HEME | AML | v4 | 4 |
1432 | 657 | SV | WT1 | likely | truncation | A382fs*69 | 382 | NM_024426 | chr11:32417914 | AF:0.08; DP:389 | PEDIATRIC | M | HEME | AML | v4 | 4 |
1433 | 657 | SV | NRAS | likely | point | Q61K | 61 | NM_002524 | chr1:115256530 | AF:0.16; DP:336 | PEDIATRIC | M | HEME | AML | v4 | 4 |
1434 | 658 | SV | CTNNB1 | likely | point | S45F | 45 | NM_001904 | chr3:41266137 | AF:0.34; DP:611 | PEDIATRIC | F | SARCOMA | Fibromatosis | v5 | 13 |
1435 | 659 | CN | RB1 | likely | deletion | deletion | NM_000321 | chr13:48953758.0 | CN:0 | PEDIATRIC | F | HEME | ALL | v4 | 15 | |
1436 | 659 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | HEME | ALL | v4 | 15 | |
1437 | 659 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | HEME | ALL | v4 | 15 | |
1438 | 659 | RE | RUNX1 | likely | truncation | RUNX1 truncation | none | chr21:36421247 | SR:169 | PEDIATRIC | F | HEME | ALL | v4 | 15 | |
1439 | 661 | RE | CTNNB1 | likely | truncation | CTNNB1 deletion | none | chr3:41266686 | SR:12 | PEDIATRIC | F | BRAIN | PNET | v4 | 2 | |
1440 | 661 | SV | PRDM1 | likely | truncation | R25fs*13 | 25 | NM_001198 | chr6:106536107 | AF:0.47; DP:535 | PEDIATRIC | F | BRAIN | PNET | v4 | 2 |
1441 | 662 | SV | ATM | likely | truncation | E688* | 688 | NM_000051 | chr11:108124704 | AF:0.05; DP:668 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v4 | 13 |
1442 | 662 | SV | NCOR1 | likely | truncation | S1959fs*17 | 1959 | NM_006311 | chr17:15964718 | AF:0.1; DP:463 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v4 | 13 |
1443 | 663 | SV | KRAS | likely | point | Q61H | 61 | NM_004985 | chr12:25380275 | AF:0.2; DP:491 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 17 |
1444 | 663 | SV | PIK3R2 | likely | truncation | Q494* | 494 | NM_005027 | chr19:18277033 | AF:0.54; DP:394 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 17 |
1445 | 664 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | BRAIN | Glioma | v5 | 12 | |
1446 | 664 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | BRAIN | Glioma | v5 | 12 | |
1447 | 664 | SV | BRAF | likely | point | V600E | 600 | NM_004333 | chr7:140453136 | AF:0.17; DP:354 | PEDIATRIC | F | BRAIN | Glioma | v5 | 12 |
1448 | 665 | SV | WT1 | likely | truncation | A382fs*4 | 382 | NM_024426 | chr11:32417914 | AF:0.54; DP:257 | PEDIATRIC | F | HEME | AML | v4 | 17 |
1449 | 665 | SV | WT1 | likely | truncation | A382fs*11 | 382 | NM_024426 | chr11:32417887 | AF:0.4; DP:353 | PEDIATRIC | F | HEME | AML | v4 | 17 |
1450 | 665 | SV | FLT3 | likely | point | L576_Q577ins17 | NM_004119 | chr13:28608327 | AF:0.35; DP:803 | PEDIATRIC | F | HEME | AML | v4 | 17 | |
1451 | 665 | SV | NPM1 | likely | truncation | W288fs*10+ | 288 | NM_002520 | chr5:170837547 | AF:0.41; DP:217 | PEDIATRIC | F | HEME | AML | v4 | 17 |
1452 | 665 | SV | PTPN11 | likely | point | D61Y | 61 | NM_002834 | chr12:112888165 | AF:0.48; DP:430 | PEDIATRIC | F | HEME | AML | v4 | 17 |
1453 | 665 | SV | DNMT3A | likely | point | R882C | 882 | NM_022552 | chr2:25457243 | AF:0.55; DP:464 | PEDIATRIC | F | HEME | AML | v4 | 17 |
1454 | 666 | CN | C17orf39 | likely | amplification | amplification | NM_024052 | chr17:17959863.0 | CN:6 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 | |
1455 | 666 | SV | H3F3A | likely | point | K28M | 28 | NM_002107 | chr1:226252135 | AF:0.21; DP:385 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
1456 | 666 | SV | TP53 | likely | point | H168P | 168 | NM_000546 | chr17:7578427 | AF:0.31; DP:575 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
1457 | 666 | SV | PIK3CA | likely | point | H1047R | 1047 | NM_006218 | chr3:178952085 | AF:0.09; DP:925 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
1458 | 667 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:11 | PEDIATRIC | M | BRAIN | Glioma | v5 | 9 | |
1459 | 668 | RE | PBX1 | likely | rearrangement | PBX1-TCF3 fusion | none | chr1:164761787 | SR:5761 | PEDIATRIC | M | HEME | ALL | v4 | 15 | |
1460 | 669 | SV | NF1 | likely | truncation | R1306* | 1306 | NM_001042492 | chr17:29562981 | AF:0.17; DP:351 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 11 |
1461 | 669 | SV | H3F3A | likely | point | K28M | 28 | NM_002107 | chr1:226252135 | AF:0.08; DP:234 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 11 |
1462 | 669 | SV | TP53 | likely | point | R248Q | 248 | NM_000546 | chr17:7577538 | AF:0.15; DP:437 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 11 |
1463 | 669 | SV | APC | likely | point | A2122_C2123insA | 2122 | NM_000038 | chr5:112177656 | AF:0.35; DP:438 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 11 |
1464 | 669 | SV | ATRX | likely | truncation | V1002fs*1 | 1002 | NM_000489 | chrX:76937750 | AF:0.06; DP:468 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 11 |
1465 | 670 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 17 | |
1466 | 670 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 17 | |
1467 | 670 | SV | MUTYH | likely | point | Y165C | 165 | NM_001048171 | chr1:45798475 | AF:0.45; DP:668 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 17 |
1468 | 671 | RE | SS18 | likely | rearrangement | SS18-SSX2 fusion | none | chr18:23612372 | SR:36 | PEDIATRIC | F | SARCOMA | Synovial | v4 | 1 | |
1469 | 672 | SV | BRAF | likely | point | V600E | 600 | NM_004333 | chr7:140453136 | AF:0.14; DP:232 | PEDIATRIC | M | HEME | Histiocytic neoplasm | v4 | 1 |
1470 | 673 | RE | ALK | likely | rearrangement | ALK-EML4 fusion | none | chr2:29447252 | SR:58 | PEDIATRIC | F | CARCINOMA | Thyroid | v5 | 7 | |
1471 | 674 | SV | BRAF | likely | point | V600E | 600 | NM_004333 | chr7:140453136 | AF:0.24; DP:527 | PEDIATRIC | F | BRAIN | Ganglioglioma | v5 | 4 |
1472 | 675 | CN | PDGFRA | likely | amplification | amplification | NM_006206 | chr4:55139897.0 | CN:84 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 15 | |
1473 | 675 | CN | KIT | likely | amplification | amplification | NM_000222 | chr4:55593645.0 | CN:22 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 15 | |
1474 | 675 | CN | KDR | likely | amplification | amplification | NM_002253 | chr4:55966522.0 | CN:64 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 15 | |
1475 | 675 | SV | TP53 | likely | point | R273C | 273 | NM_000546 | chr17:7577121 | AF:0.95; DP:647 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 15 |
1476 | 675 | SV | H3F3A | likely | point | K28M | 28 | NM_002107 | chr1:226252135 | AF:0.52; DP:372 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 15 |
1477 | 676 | RE | ALK | likely | rearrangement | ALK-PPP1CB fusion | none | chr2:29446298 | SR:1467 | PEDIATRIC | F | BRAIN | Astrocytoma | v4 | 0 | |
1478 | 677 | RE | RUNX1 | likely | rearrangement | RUNX1-RUNX1T1 fusion | none | chr21:36231833 | SR:3269 | PEDIATRIC | M | HEME | AML | v4 | 17 | |
1479 | 677 | SV | FAT3 | likely | point | R4186C | 4186 | NM_001008781 | chr11:92616178 | AF:0.49; DP:317 | PEDIATRIC | M | HEME | AML | v4 | 17 |
1480 | 677 | SV | NRAS | likely | point | Q61R | 61 | NM_002524 | chr1:115256529 | AF:0.33; DP:290 | PEDIATRIC | M | HEME | AML | v4 | 17 |
1481 | 677 | SV | NRAS | likely | point | Q61H | 61 | NM_002524 | chr1:115256528 | AF:0.04; DP:292 | PEDIATRIC | M | HEME | AML | v4 | 17 |
1482 | 677 | SV | TP53 | likely | point | R283C | 283 | NM_000546 | chr17:7577091 | AF:0.5; DP:637 | PEDIATRIC | M | HEME | AML | v4 | 17 |
1483 | 677 | SV | EZH2 | likely | truncation | G743fs*13+ | 743 | NM_004456 | chr7:148504767 | AF:0.38; DP:374 | PEDIATRIC | M | HEME | AML | v4 | 17 |
1484 | 677 | SV | EZH2 | likely | truncation | G5fs*7 | 5 | NM_004456 | chr7:148544380 | AF:0.43; DP:362 | PEDIATRIC | M | HEME | AML | v4 | 17 |
1485 | 677 | SV | FLT3 | likely | point | D835F | 835 | NM_004119 | chr13:28592642 | AF:0.05; DP:371 | PEDIATRIC | M | HEME | AML | v4 | 17 |
1486 | 678 | CN | MDM2 | likely | amplification | amplification | NM_002392 | chr12:69218176.0 | CN:100 | PEDIATRIC | F | SARCOMA | RMS | v4 | 4 | |
1487 | 678 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:6 | PEDIATRIC | F | SARCOMA | RMS | v4 | 4 | |
1488 | 680 | RE | BRAF | likely | rearrangement | BRAF-BRAF duplication | none | chr7:140434442 | SR:11 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 6 | |
1489 | 680 | SV | ALK | likely | point | R1275Q | 1275 | NM_004304 | chr2:29432664 | AF:0.05; DP:450 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 6 |
1490 | 680 | SV | ALK | likely | point | F1174L | 1174 | NM_004304 | chr2:29443695 | AF:0.02; DP:424 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 6 |
1491 | 680 | SV | NRAS | likely | point | Q61K | 61 | NM_002524 | chr1:115256530 | AF:0.02; DP:520 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 6 |
1492 | 681 | SV | IL7R | likely | point | L243_T244insGESGPCL | 243 | NM_002185 | chr5:35874572 | AF:0.29; DP:952 | PEDIATRIC | M | HEME | Leukemia (NOS) | v4 | 3 |
1493 | 681 | SV | PHF6 | likely | truncation | Y105fs*38 | 105 | NM_032458 | chrX:133527601 | AF:0.86; DP:323 | PEDIATRIC | M | HEME | Leukemia (NOS) | v4 | 3 |
1494 | 681 | SV | IKZF1 | likely | truncation | K91fs*3 | 91 | NM_006060 | chr7:50444342 | AF:0.44; DP:812 | PEDIATRIC | M | HEME | Leukemia (NOS) | v4 | 3 |
1495 | 682 | CN | RPTOR | likely | amplification | amplification | NM_020761 | chr17:78862231.0 | CN:11 | PEDIATRIC | F | SARCOMA | MPNST | v4 | 15 | |
1496 | 682 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | SARCOMA | MPNST | v4 | 15 | |
1497 | 682 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | SARCOMA | MPNST | v4 | 15 | |
1498 | 682 | SV | PIK3CA | likely | point | E545K | 545 | NM_006218 | chr3:178936091 | AF:0.24; DP:351 | PEDIATRIC | F | SARCOMA | MPNST | v4 | 15 |
1499 | 683 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | HEME | ALL | v4 | 18 | |
1500 | 683 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | HEME | ALL | v4 | 18 | |
1501 | 683 | RE | BCL2 | likely | rearrangement | BCL2-IGL fusion | none | chr18:60986451 | SR:269 | PEDIATRIC | F | HEME | ALL | v4 | 18 | |
1502 | 683 | SV | KRAS | likely | point | G13D | 13 | NM_004985 | chr12:25398281 | AF:0.47; DP:415 | PEDIATRIC | F | HEME | ALL | v4 | 18 |
1503 | 683 | SV | TP53 | likely | point | R248Q | 248 | NM_000546 | chr17:7577538 | AF:0.89; DP:312 | PEDIATRIC | F | HEME | ALL | v4 | 18 |
1504 | 683 | SV | SMARCA4 | likely | point | R1157W | 1157 | NM_003072 | chr19:11141492 | AF:0.53; DP:481 | PEDIATRIC | F | HEME | ALL | v4 | 18 |
1505 | 683 | SV | BCL7A | likely | point | G3_R11>RQ | 3 | NM_020993 | chr12:122460003 | AF:0.41; DP:290 | PEDIATRIC | F | HEME | ALL | v4 | 18 |
1506 | 683 | SV | PHF6 | likely | truncation | splice site 730-1G>A | NM_032458 | chrX:133549045 | AF:0.55; DP:388 | PEDIATRIC | F | HEME | ALL | v4 | 18 | |
1507 | 683 | SV | SMARCA4 | likely | truncation | K867fs*78 | 867 | NM_003072 | chr19:11130360 | AF:0.47; DP:471 | PEDIATRIC | F | HEME | ALL | v4 | 18 |
1508 | 684 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | HEME | ALL | v4 | 4 | |
1509 | 684 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | HEME | ALL | v4 | 4 | |
1510 | 684 | SV | NRAS | likely | point | G12V | 12 | NM_002524 | chr1:115258747 | AF:0.22; DP:408 | PEDIATRIC | F | HEME | ALL | v4 | 4 |
1511 | 684 | SV | WT1 | likely | truncation | S381fs*8 | 381 | NM_024426 | chr11:32417911 | AF:0.17; DP:329 | PEDIATRIC | F | HEME | ALL | v4 | 4 |
1512 | 684 | SV | NOTCH1 | likely | point | L1678P | 1678 | NM_017617 | chr9:139397768 | AF:0.23; DP:329 | PEDIATRIC | F | HEME | ALL | v4 | 4 |
1513 | 685 | CN | NF1 | likely | deletion | deletion | NM_001042492 | chr17:29576069.0 | CN:0 | PEDIATRIC | M | BRAIN | Ependymoma | v5 | 11 | |
1514 | 685 | SV | TP53 | likely | point | R175H | 175 | NM_000546 | chr17:7578406 | AF:0.94; DP:629 | PEDIATRIC | M | BRAIN | Ependymoma | v5 | 11 |
1515 | 685 | SV | H3F3A | likely | point | K28M | 28 | NM_002107 | chr1:226252135 | AF:0.54; DP:368 | PEDIATRIC | M | BRAIN | Ependymoma | v5 | 11 |
1516 | 685 | SV | ASXL1 | likely | truncation | G646fs*12 | 646 | NM_015338 | chr20:31022449 | AF:0.32; DP:466 | PEDIATRIC | M | BRAIN | Ependymoma | v5 | 11 |
1517 | 686 | RE | MLL | likely | rearrangement | MLL-MLLT1 fusion | none | chr11:118355594 | SR:1249 | PEDIATRIC | F | HEME | ALL | v4 | 2 | |
1518 | 686 | RE | IGH | likely | rearrangement | IGH-N/A rearrangement | none | chr14:106376058 | SR:183 | PEDIATRIC | F | HEME | ALL | v4 | 2 | |
1519 | 687 | RE | KDM5A | likely | rearrangement | KDM5A-NUP98 fusion | none | chr12:402334 | SR:135 | PEDIATRIC | F | HEME | AML | v4 | 0 | |
1520 | 687 | SV | TP53 | likely | point | R282W | 282 | NM_000546 | chr17:7577094 | AF:0.05; DP:711 | PEDIATRIC | F | HEME | AML | v4 | 0 |
1521 | 688 | SV | CTNNB1 | likely | point | V22_S37del | 22 | NM_001904 | chr3:41266067 | AF:0.2; DP:1242 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v4 | 4 |
1522 | 689 | CN | CCNE1 | likely | amplification | amplification | NM_001238 | chr19:30312185.0 | CN:6 | PEDIATRIC | M | SARCOMA | RMS | v4 | 11 | |
1523 | 689 | CN | AKT2 | likely | amplification | amplification | NM_001626 | chr19:40744846.0 | CN:10 | PEDIATRIC | M | SARCOMA | RMS | v4 | 11 | |
1524 | 689 | RE | BRD4 | likely | rearrangement | BRD4-N/A rearrangement | none | chr19:15367734 | SR:210 | PEDIATRIC | M | SARCOMA | RMS | v4 | 11 | |
1525 | 689 | SV | ICK | likely | truncation | splice site 831+2delT | NM_016513 | chr6:52880878 | AF:0.48; DP:376 | PEDIATRIC | M | SARCOMA | RMS | v4 | 11 | |
1526 | 690 | CN | RB1 | likely | deletion | deletion | NM_000321 | chr13:48953758.0 | CN:0 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 | |
1527 | 690 | CN | C17orf39 | likely | amplification | amplification | NM_024052 | chr17:17959863.0 | CN:15 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 | |
1528 | 690 | CN | TP53 | likely | deletion | deletion | NM_000546 | chr17:7577322.0 | CN:0 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 | |
1529 | 690 | CN | NF2 | likely | deletion | deletion | NM_000268 | chr22:30061016.0 | CN:0 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 | |
1530 | 690 | CN | PDGFRA | likely | amplification | amplification | NM_006206 | chr4:55139897.0 | CN:15 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 | |
1531 | 692 | RE | FGFR1 | likely | rearrangement | FGFR1-USP6 fusion | none | chr8:38314932 | SR:1909 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 6 | |
1532 | 694 | RE | FOXO1 | likely | rearrangement | FOXO1-PAX3 fusion | none | chr13:41134891 | SR:228 | PEDIATRIC | F | SARCOMA | RMS | v4 | 1 | |
1533 | 694 | SV | ARID1A | likely | truncation | S1149* | 1149 | NM_006015 | chr1:27099030 | AF:0.38; DP:539 | PEDIATRIC | F | SARCOMA | RMS | v4 | 1 |
1534 | 695 | SV | PREX2 | likely | point | S565L | 565 | NM_024870 | chr8:68992729 | AF:0.32; DP:481 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 8 |
1535 | 695 | SV | CDKN2A | likely | truncation | splice site 457+2T>G | NM_000077 | chr9:21970899 | AF:0.32; DP:402 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 8 | |
1536 | 696 | SV | MAP2K1 | likely | point | L98_K104>Q | 98 | NM_002755 | chr15:66729084 | AF:0.18; DP:723 | PEDIATRIC | M | HEME | Histiocytic neoplasm | v5 | 17 |
1537 | 698 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:170 | PEDIATRIC | F | BRAIN | Medulloblastoma | v5 | 8 | |
1538 | 698 | CN | CDK6 | likely | amplification | amplification | NM_001259 | chr7:92300794.0 | CN:41 | PEDIATRIC | F | BRAIN | Medulloblastoma | v5 | 8 | |
1539 | 698 | SV | TP53 | likely | point | R282W | 282 | NM_000546 | chr17:7577094 | AF:0.95; DP:377 | PEDIATRIC | F | BRAIN | Medulloblastoma | v5 | 8 |
1540 | 698 | SV | PTPRD | likely | truncation | P824fs*7 | 824 | NM_002839 | chr9:8486346 | AF:0.43; DP:449 | PEDIATRIC | F | BRAIN | Medulloblastoma | v5 | 8 |
1541 | 699 | SV | NCOR1 | likely | truncation | D1971fs*4 | 1971 | NM_006311 | chr17:15961904 | AF:0.35; DP:681 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 4 |
1542 | 700 | CN | IGF1 | likely | amplification | amplification | NM_001111283 | chr12:102841444.0 | CN:55 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 3 | |
1543 | 700 | CN | GLI1 | likely | amplification | amplification | NM_005269 | chr12:57859639.0 | CN:49 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 3 | |
1544 | 700 | CN | CDK4 | likely | amplification | amplification | NM_000075 | chr12:58144493.0 | CN:53 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 3 | |
1545 | 700 | CN | MDM2 | likely | amplification | amplification | NM_002392 | chr12:69218176.0 | CN:58 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 3 | |
1546 | 700 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:8 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 3 | |
1547 | 701 | CN | RB1 | likely | deletion | deletion | NM_000321 | chr13:48953758.0 | CN:0 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 | |
1548 | 701 | SV | RET | likely | point | A373V | 373 | NM_020975 | chr10:43604533 | AF:0.51; DP:641 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
1549 | 702 | SV | TSC2 | likely | truncation | Y1033fs*1 | 1033 | NM_000548 | chr16:2129164 | AF:0.39; DP:288 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 8 |
1550 | 702 | SV | TP53 | likely | truncation | S183* | 183 | NM_000546 | chr17:7578382 | AF:0.7; DP:387 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 8 |
1551 | 703 | SV | FAT1 | likely | truncation | R628* | 628 | NM_005245 | chr4:187629100 | AF:0.5; DP:689 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 3 |
1552 | 703 | SV | PBRM1 | likely | truncation | G626fs*5 | 626 | NM_018313 | chr3:52649384 | AF:0.14; DP:530 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 3 |
1553 | 703 | SV | PBRM1 | likely | truncation | Q719* | 719 | NM_018313 | chr3:52643741 | AF:0.07; DP:753 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 3 |
1554 | 704 | CN | PTEN | likely | deletion | deletion | NM_000314 | chr10:89692889.0 | CN:0 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 14 | |
1555 | 704 | RE | TP53 | likely | rearrangement | TP53-LUC7L3 rearrangement | none | chr17:7590737 | SR:147 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 14 | |
1556 | 705 | CN | PDGFRB | likely | amplification | amplification | NM_002609 | chr5:149504707.0 | CN:9 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 13 | |
1557 | 705 | CN | CCND3 | likely | amplification | amplification | NM_001136017 | chr6:41905052.0 | CN:7 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 13 | |
1558 | 705 | RE | NF2 | likely | truncation | NF2 truncation | none | chr22:30000062 | SR:1752 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 13 | |
1559 | 705 | SV | ATRX | likely | truncation | Q219* | 219 | NM_000489 | chrX:76940438 | AF:0.52; DP:485 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 13 |
1560 | 707 | SV | KRAS | likely | point | G12A | 12 | NM_004985 | chr12:25398284 | AF:0.4; DP:307 | PEDIATRIC | M | HEME | ALL | v4 | 12 |
1561 | 707 | SV | CREBBP | likely | truncation | Y659* | 659 | NM_004380 | chr16:3828148 | AF:0.24; DP:349 | PEDIATRIC | M | HEME | ALL | v4 | 12 |
1562 | 707 | SV | ETV6 | likely | truncation | E115* | 115 | NM_001987 | chr12:12006375 | AF:0.38; DP:366 | PEDIATRIC | M | HEME | ALL | v4 | 12 |
1563 | 708 | SV | NRAS | likely | point | G12D | 12 | NM_002524 | chr1:115258747 | AF:0.48; DP:420 | PEDIATRIC | M | HEME | ALL | v4 | 2 |
1564 | 708 | SV | PTPN11 | likely | point | P491S | 491 | NM_002834 | chr12:112926851 | AF:0.45; DP:349 | PEDIATRIC | M | HEME | ALL | v4 | 2 |
1565 | 709 | CN | ZNF703 | likely | amplification | amplification | NM_025069 | chr8:37554201.0 | CN:11 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 14 | |
1566 | 709 | CN | FGFR1 | likely | amplification | amplification | NM_023110 | chr8:38276471.0 | CN:10 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 14 | |
1567 | 709 | CN | MYST3 | likely | amplification | amplification | NM_006766 | chr8:41809844.0 | CN:10 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 14 | |
1568 | 709 | SV | TP53 | likely | truncation | R342* | 342 | NM_000546 | chr17:7574003 | AF:0.43; DP:430 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 14 |
1569 | 710 | SV | BRIP1 | likely | point | A453T | 453 | NM_032043 | chr17:59871074 | AF:0.53; DP:301 | PEDIATRIC | M | BRAIN | Glioma | v5 | 9 |
1570 | 710 | SV | PIK3CA | likely | point | H1047R | 1047 | NM_006218 | chr3:178952085 | AF:0.39; DP:598 | PEDIATRIC | M | BRAIN | Glioma | v5 | 9 |
1571 | 710 | SV | FGFR1 | likely | point | N546K | 546 | NM_023110 | chr8:38274849 | AF:0.38; DP:506 | PEDIATRIC | M | BRAIN | Glioma | v5 | 9 |
1572 | 711 | SV | ALK | likely | point | R1275Q | 1275 | NM_004304 | chr2:29432664 | AF:0.45; DP:431 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 2 |
1573 | 712 | SV | RUNX1 | likely | point | W106L | 106 | NM_001754 | chr21:36259174 | AF:0.21; DP:390 | PEDIATRIC | M | HEME | AML | v4 | 17 |
1574 | 712 | SV | NOTCH1 | likely | point | A1418T | 1418 | NM_017617 | chr9:139400096 | AF:0.24; DP:639 | PEDIATRIC | M | HEME | AML | v4 | 17 |
1575 | 712 | SV | GRIN2A | likely | point | L246I | 246 | NM_000833 | chr16:10032087 | AF:0.26; DP:764 | PEDIATRIC | M | HEME | AML | v4 | 17 |
1576 | 712 | SV | GATA2 | likely | point | R308P | 308 | NM_032638 | chr3:128202797 | AF:0.22; DP:551 | PEDIATRIC | M | HEME | AML | v4 | 17 |
1577 | 712 | SV | LRP1B | likely | truncation | splice site 13247+1G>T | NM_018557 | chr2:141027810 | AF:0.22; DP:548 | PEDIATRIC | M | HEME | AML | v4 | 17 | |
1578 | 713 | SV | KDM5C | likely | truncation | splice site 1398_1401+6del10 | NM_004187 | chrX:53240672 | AF:0.37; DP:223 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 5 | |
1579 | 714 | SV | ASXL1 | likely | truncation | G646fs*12 | 646 | NM_015338 | chr20:31022449 | AF:0.33; DP:386 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 17 |
1580 | 714 | SV | FAM123B | likely | truncation | L311fs*6 | 311 | NM_152424 | chrX:63412236 | AF:0.9; DP:266 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 17 |
1581 | 714 | SV | MYCN | likely | point | P44L | 44 | NM_005378 | chr2:16082317 | AF:0.5; DP:472 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 17 |
1582 | 715 | SV | CDKN2A | likely | point | V126D | 126 | NM_000077 | chr9:21970981 | AF:0.54; DP:425 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 |
1583 | 716 | SV | KIT | likely | point | D816V | 816 | NM_000222 | chr4:55599321 | AF:0.22; DP:496 | PEDIATRIC | F | GONADAL TUMORS | Ovarian/Testis | v5 | 12 |
1584 | 716 | SV | TP53 | likely | truncation | Q38* | 38 | NM_000546 | chr17:7579575 | AF:0.04; DP:592 | PEDIATRIC | F | GONADAL TUMORS | Ovarian/Testis | v5 | 12 |
1585 | 716 | SV | TP53 | likely | point | R110L | 110 | NM_000546 | chr17:7579358 | AF:0.18; DP:714 | PEDIATRIC | F | GONADAL TUMORS | Ovarian/Testis | v5 | 12 |
1586 | 716 | SV | CHD2 | likely | truncation | R1137* | 1137 | NM_001271 | chr15:93528899 | AF:0.07; DP:444 | PEDIATRIC | F | GONADAL TUMORS | Ovarian/Testis | v5 | 12 |
1587 | 717 | SV | CTNNB1 | likely | truncation | splice site 64_241+17del195 | NM_001904 | chr3:41266066 | AF:0.35; DP:823 | PEDIATRIC | M | CARCINOMA | Kidney | v5 | 4 | |
1588 | 717 | SV | ARID1A | likely | truncation | G95fs*1 | 95 | NM_006015 | chr1:27023176 | AF:0.41; DP:219 | PEDIATRIC | M | CARCINOMA | Kidney | v5 | 4 |
1589 | 717 | SV | MEN1 | likely | truncation | E341* | 341 | NM_130801 | chr11:64573747 | AF:0.9; DP:243 | PEDIATRIC | M | CARCINOMA | Kidney | v5 | 4 |
1590 | 718 | RE | PAX3 | likely | rearrangement | PAX3-NCOA1 fusion | none | chr2:223084991 | SR:54 | PEDIATRIC | F | SARCOMA | RMS | v4 | 0 | |
1591 | 719 | SV | ICK | likely | truncation | splice site 831+2delT | NM_016513 | chr6:52880878 | AF:0.39; DP:332 | PEDIATRIC | M | SARCOMA | MPNST | v4 | 9 | |
1592 | 719 | SV | CREBBP | likely | truncation | K1837fs*128 | 1837 | NM_004380 | chr16:3779537 | AF:0.43; DP:603 | PEDIATRIC | M | SARCOMA | MPNST | v4 | 9 |
1593 | 719 | SV | SMARCA4 | likely | point | R1601W | 1601 | NM_003072 | chr19:11170753 | AF:0.51; DP:370 | PEDIATRIC | M | SARCOMA | MPNST | v4 | 9 |
1594 | 720 | SV | MAP3K6 | likely | truncation | A67fs*71 | 67 | NM_004672 | chr1:27692892 | AF:0.62; DP:53 | PEDIATRIC | M | SARCOMA | Soft tissue (NOS) | v4 | 14 |
1595 | 721 | SV | PTCH1 | likely | point | V1042_C1043insCAVFLLNPWT | 1042 | NM_000264 | chr9:98220337 | AF:0.5; DP:524 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 1 |
1596 | 722 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:8 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v5 | 15 | |
1597 | 722 | SV | TP53 | likely | point | G245S | 245 | NM_000546 | chr17:7577548 | AF:0.89; DP:358 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v5 | 15 |
1598 | 724 | RE | ROS1 | likely | rearrangement | ROS1-TFG rearrangement | none | chr6:117642443 | SR:100 | PEDIATRIC | F | SARCOMA | IMTs | v4 | 12 | |
1599 | 725 | RE | ETV6 | likely | rearrangement | ETV6-RUNX1 fusion | none | chr12:12022630 | SR:452 | PEDIATRIC | F | HEME | MLL | v4 | 12 | |
1600 | 725 | SV | KRAS | likely | point | A59E | 59 | NM_004985 | chr12:25380282 | AF:0.73; DP:412 | PEDIATRIC | F | HEME | MLL | v4 | 12 |
1601 | 726 | RE | FGFR2 | likely | rearrangement | FGFR2-INA fusion | none | chr10:123242194 | SR:119 | PEDIATRIC | F | BRAIN | Ependymoma | v5 | 18 | |
1602 | 727 | SV | TP53 | likely | point | I251T | 251 | NM_000546 | chr17:7577529 | AF:0.04; DP:474 | PEDIATRIC | M | CARCINOMA | FLO | v5 | 15 |
1603 | 728 | CN | MCL1 | likely | amplification | amplification | NM_182763 | chr1:150550843.0 | CN:10 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v4 | 4 | |
1604 | 728 | RE | CHUK | likely | truncation | CHUK truncation | none | chr10:101979096 | SR:18 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v4 | 4 | |
1605 | 729 | SV | NRAS | likely | point | G13D | 13 | NM_002524 | chr1:115258744 | AF:0.33; DP:450 | PEDIATRIC | M | HEME | AML | v4 | 11 |
1606 | 730 | SV | NF2 | likely | point | E463K | 463 | NM_000268 | chr22:30070871 | AF:0.46; DP:571 | PEDIATRIC | F | HEME | Histiocytic neoplasm | v4 | 13 |
1607 | 731 | SV | KRAS | likely | point | G12D | 12 | NM_004985 | chr12:25398284 | AF:0.44; DP:857 | PEDIATRIC | M | GONADAL TUMORS | Ovarian/Testis | v4 | 16 |
1608 | 731 | SV | PTEN | likely | truncation | splice site 209+2T>C | NM_000314 | chr10:89685316 | AF:0.4; DP:871 | PEDIATRIC | M | GONADAL TUMORS | Ovarian/Testis | v4 | 16 | |
1609 | 731 | SV | TP53 | likely | point | C124R | 124 | NM_000546 | chr17:7579317 | AF:0.18; DP:458 | PEDIATRIC | M | GONADAL TUMORS | Ovarian/Testis | v4 | 16 |
1610 | 731 | SV | TP53 | likely | truncation | L35fs*8 | 35 | NM_000546 | chr17:7579584 | AF:0.13; DP:543 | PEDIATRIC | M | GONADAL TUMORS | Ovarian/Testis | v4 | 16 |
1611 | 733 | CN | SMARCB1 | likely | deletion | deletion | NM_003073 | chr22:24152283.0 | CN:0 | PEDIATRIC | F | BRAIN | Atypical Teratoid Rhaboid Tumor (ATRT) | v4 | 4 | |
1612 | 734 | RE | ETV6 | likely | rearrangement | ETV6-RUNX1 fusion | none | chr12:12022630 | SR:583 | PEDIATRIC | F | HEME | ALL | v4 | 2 | |
1613 | 735 | CN | FGFR2 | likely | amplification | amplification | NM_000141 | chr10:123263379.0 | CN:107 | PEDIATRIC | F | CARCINOMA | Lower GI | v5 | 15 | |
1614 | 735 | CN | RICTOR | likely | amplification | amplification | NM_152756 | chr5:38960567.0 | CN:7 | PEDIATRIC | F | CARCINOMA | Lower GI | v5 | 15 | |
1615 | 735 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:24 | PEDIATRIC | F | CARCINOMA | Lower GI | v5 | 15 | |
1616 | 735 | CN | FGFR1 | likely | amplification | amplification | NM_023110 | chr8:38276471.0 | CN:12 | PEDIATRIC | F | CARCINOMA | Lower GI | v5 | 15 | |
1617 | 735 | SV | TP53 | likely | truncation | D228fs*1 | 228 | NM_000546 | chr17:7577600 | AF:0.35; DP:324 | PEDIATRIC | F | CARCINOMA | Lower GI | v5 | 15 |
1618 | 735 | SV | SMAD4 | likely | truncation | splice site 1309-1G>C | NM_005359 | chr18:48603007 | AF:0.31; DP:272 | PEDIATRIC | F | CARCINOMA | Lower GI | v5 | 15 | |
1619 | 737 | SV | RB1 | likely | truncation | Y91fs*9 | 91 | NM_000321 | chr13:48916739 | AF:0.22; DP:226 | PEDIATRIC | M | HEME | ALL | v4 | 4 |
1620 | 737 | SV | TP53 | likely | point | G245S | 245 | NM_000546 | chr17:7577548 | AF:0.72; DP:553 | PEDIATRIC | M | HEME | ALL | v4 | 4 |
1621 | 738 | RE | KDM5C | likely | truncation | KDM5C truncation | none | chrX:53228303 | SR:99 | PEDIATRIC | F | SARCOMA | Unknown | v5 | 15 | |
1622 | 738 | RE | KDM6A | likely | rearrangement | KDM6A-STARD8 rearrangement | none | chrX:44928981 | SR:69 | PEDIATRIC | F | SARCOMA | Unknown | v5 | 15 | |
1623 | 739 | CN | MCL1 | likely | amplification | amplification | NM_182763 | chr1:150550843.0 | CN:8 | PEDIATRIC | M | SARCOMA | Soft tissue (NOS) | v4 | 15 | |
1624 | 739 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | SARCOMA | Soft tissue (NOS) | v4 | 15 | |
1625 | 739 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | SARCOMA | Soft tissue (NOS) | v4 | 15 | |
1626 | 739 | SV | TP53 | likely | point | R249S | 249 | NM_000546 | chr17:7577534 | AF:0.2; DP:419 | PEDIATRIC | M | SARCOMA | Soft tissue (NOS) | v4 | 15 |
1627 | 740 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:107 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 2 | |
1628 | 741 | SV | EGFR | likely | point | H773_V774insNPH | 773 | NM_005228 | chr7:55249021 | AF:0.26; DP:405 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 11 |
1629 | 741 | SV | H3F3A | likely | point | K28M | 28 | NM_002107 | chr1:226252135 | AF:0.62; DP:389 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 11 |
1630 | 741 | SV | NF1 | likely | truncation | R416* | 416 | NM_001042492 | chr17:29528489 | AF:0.43; DP:337 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 11 |
1631 | 741 | SV | NF1 | likely | truncation | R461* | 461 | NM_001042492 | chr17:29533378 | AF:0.42; DP:325 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 11 |
1632 | 742 | SV | SPTA1 | likely | point | R1793Q | 1793 | NM_003126 | chr1:158605757 | AF:0.39; DP:694 | PEDIATRIC | M | BRAIN | Ependymoma | v5 | 11 |
1633 | 744 | CN | HGF | likely | amplification | amplification | NM_000601 | chr7:81355269.0 | CN:8 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 | |
1634 | 744 | RE | NTRK1 | likely | truncation | NTRK1 truncation | none | chr1:156843905 | SR:119 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 | |
1635 | 744 | SV | EPHA7 | likely | point | I90V | 90 | NM_004440 | chr6:94120783 | AF:0.5; DP:690 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
1636 | 745 | SV | SMARCA4 | likely | truncation | L1161fs*15 | 1161 | NM_003072 | chr19:11141503 | AF:0.74; DP:312 | PEDIATRIC | F | CARCINOMA | Gyn carcinoma | v4 | 8 |
1637 | 748 | CN | KRAS | likely | amplification | amplification | NM_004985 | chr12:25378627.0 | CN:81 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 2 | |
1638 | 748 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:174 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 2 | |
1639 | 748 | CN | EGFR | likely | amplification | amplification | NM_005228 | chr7:55234642.0 | CN:38 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 2 | |
1640 | 748 | SV | TP53 | likely | truncation | C135fs*14 | 135 | NM_000546 | chr17:7578530 | AF:0.9; DP:411 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 2 |
1641 | 748 | SV | LZTR1 | likely | truncation | splice site 993+1G>T | NM_006767 | chr22:21346119 | AF:0.32; DP:390 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 2 | |
1642 | 749 | CN | SMARCB1 | likely | deletion | deletion | NM_003073 | chr22:24152283.0 | CN:0 | PEDIATRIC | M | SARCOMA | Soft tissue (NOS) | v4 | 13 | |
1643 | 750 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:25 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 10 | |
1644 | 750 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 10 | |
1645 | 750 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 10 | |
1646 | 750 | SV | BRCA2 | likely | point | T1354M | 1354 | NM_000059 | chr13:32912553 | AF:0.12; DP:389 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 10 |
1647 | 750 | SV | TP53 | likely | point | R273C | 273 | NM_000546 | chr17:7577121 | AF:0.84; DP:420 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 10 |
1648 | 750 | SV | NF2 | likely | truncation | R341* | 341 | NM_000268 | chr22:30067836 | AF:0.71; DP:335 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 10 |
1649 | 751 | RE | SS18 | likely | rearrangement | SS18-SSX1 fusion | none | chr18:23612393 | SR:930 | PEDIATRIC | F | SARCOMA | Ewing | v4 | 13 | |
1650 | 752 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | HEME | ALL | v4 | 4 | |
1651 | 752 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | HEME | ALL | v4 | 4 | |
1652 | 752 | RE | JAK2 | likely | rearrangement | JAK2-KIAA1432 fusion | none | chr9:5022023 | SR:65 | PEDIATRIC | M | HEME | ALL | v4 | 4 | |
1653 | 752 | RE | PAX5 | likely | rearrangement | PAX5-DNAJA1 fusion | none | chr9:36846910 | SR:387 | PEDIATRIC | M | HEME | ALL | v4 | 4 | |
1654 | 752 | SV | KRAS | likely | point | G12D | 12 | NM_004985 | chr12:25398284 | AF:0.14; DP:188 | PEDIATRIC | M | HEME | ALL | v4 | 4 |
1655 | 753 | CN | NFKBIA | likely | amplification | amplification | NM_020529 | chr14:35872220.0 | CN:6 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 4 | |
1656 | 753 | SV | PTEN | likely | truncation | K6* | 6 | NM_000314 | chr10:89624242 | AF:0.16; DP:404 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 4 |
1657 | 753 | SV | SDHA | likely | truncation | R31* | 31 | NM_004168 | chr5:223624 | AF:0.66; DP:333 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 4 |
1658 | 754 | SV | HIST1H1D | likely | truncation | K86fs*44 | 86 | NM_005320 | chr6:26234904 | AF:0.41; DP:832 | PEDIATRIC | F | HEME | Leukemia (NOS) | v4 | 14 |
1659 | 755 | SV | KDM6A | likely | truncation | W1012* | 1012 | NM_021140 | chrX:44938487 | AF:0.1; DP:368 | PEDIATRIC | F | HEME | Lymphoma | v4 | 12 |
1660 | 755 | SV | NOTCH1 | likely | point | P2438L | 2438 | NM_017617 | chr9:139390878 | AF:0.5; DP:466 | PEDIATRIC | F | HEME | Lymphoma | v4 | 12 |
1661 | 756 | RE | ALK | likely | rearrangement | ALK-CLTC fusion | none | chr2:29446290 | SR:187 | PEDIATRIC | M | SARCOMA | IMTs | v4 | 8 | |
1662 | 756 | SV | TP53 | likely | point | M237L | 237 | NM_000546 | chr17:7577572 | AF:0.47; DP:443 | PEDIATRIC | M | SARCOMA | IMTs | v4 | 8 |
1663 | 757 | CN | BCL2L2 | likely | amplification | amplification | NM_004050 | chr14:23777716.0 | CN:7 | PEDIATRIC | M | BRAIN | Glioblastoma | v4 | 17 | |
1664 | 757 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:225 | PEDIATRIC | M | BRAIN | Glioblastoma | v4 | 17 | |
1665 | 757 | CN | CDK4 | likely | amplification | amplification | NM_000075 | chr12:58144493.0 | CN:96 | PEDIATRIC | M | BRAIN | Glioblastoma | v4 | 17 | |
1666 | 758 | CN | CDK4 | likely | amplification | amplification | NM_000075 | chr12:58144493.0 | CN:15 | PEDIATRIC | F | SARCOMA | RMS | v4 | 16 | |
1667 | 758 | CN | MDM2 | likely | amplification | amplification | NM_002392 | chr12:69218176.0 | CN:68 | PEDIATRIC | F | SARCOMA | RMS | v4 | 16 | |
1668 | 758 | CN | IGF1R | likely | amplification | amplification | NM_000875 | chr15:99465518.0 | CN:65 | PEDIATRIC | F | SARCOMA | RMS | v4 | 16 | |
1669 | 758 | RE | FOXO1 | likely | rearrangement | FOXO1-PAX3 fusion | none | chr13:41134891 | SR:169 | PEDIATRIC | F | SARCOMA | RMS | v4 | 16 | |
1670 | 759 | RE | ERG | likely | rearrangement | ERG-FUS fusion | none | chr21:39755767 | SR:5450 | PEDIATRIC | M | HEME | AML | v4 | 5 | |
1671 | 760 | SV | BRAF | likely | point | V600E | 600 | NM_004333 | chr7:140453136 | AF:0.18; DP:459 | PEDIATRIC | M | CARCINOMA | Thyroid | v5 | 18 |
1672 | 761 | CN | ERBB4 | likely | amplification | amplification | NM_005235 | chr2:212534036.0 | CN:7 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v5 | 10 | |
1673 | 761 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v5 | 10 | |
1674 | 761 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v5 | 10 | |
1675 | 761 | RE | FGFR1 | likely | rearrangement | FGFR1-HOMER3 fusion | none | chr8:38271500 | SR:150 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v5 | 10 | |
1676 | 762 | SV | BCOR | likely | point | S1705_S1706insLVEFTNEIQTLLGSSVEWLHPSDLASDNYW | 1705 | NM_017745 | chrX:39911413 | AF:0.15; DP:764 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v4 | 1 |
1677 | 763 | RE | ETV6 | likely | rearrangement | ETV6-PAX5 fusion | none | chr12:11992126 | SR:169 | PEDIATRIC | M | HEME | ALL | v4 | 13 | |
1678 | 763 | SV | NRAS | likely | point | G12V | 12 | NM_002524 | chr1:115258747 | AF:0.43; DP:437 | PEDIATRIC | M | HEME | ALL | v4 | 13 |
1679 | 764 | RE | SS18 | likely | rearrangement | SS18-SSX1 fusion | none | chr18:23612394 | SR:639 | PEDIATRIC | F | SARCOMA | Synovial | v4 | 7 | |
1680 | 764 | SV | CD36 | likely | truncation | I317fs*36 | 317 | NM_000072 | chr7:80300423 | AF:0.51; DP:653 | PEDIATRIC | F | SARCOMA | Synovial | v4 | 7 |
1681 | 765 | RE | ALK | likely | rearrangement | ALK-NPM1 fusion | none | chr2:29446300 | SR:337 | PEDIATRIC | M | HEME | Lymphoma | v4 | 17 | |
1682 | 765 | SV | STAG2 | likely | truncation | Y578* | 578 | NM_006603 | chrX:123196968 | AF:0.27; DP:206 | PEDIATRIC | M | HEME | Lymphoma | v4 | 17 |
1683 | 766 | RE | RAF1 | likely | rearrangement | RAF1-QKI fusion | none | chr3:12643727 | SR:6 | PEDIATRIC | M | BRAIN | Glioma | v5 | 5 | |
1684 | 767 | RE | EWSR1 | likely | rearrangement | EWSR1-ERG fusion | none | chr22:29684753 | SR:2081 | PEDIATRIC | F | SARCOMA | Ewing | v4 | 15 | |
1685 | 767 | SV | STAG2 | likely | truncation | D1136fs*2 | 1136 | NM_006603 | chrX:123224553 | AF:0.38; DP:527 | PEDIATRIC | F | SARCOMA | Ewing | v4 | 15 |
1686 | 768 | SV | CTNNB1 | likely | point | T41A | 41 | NM_001904 | chr3:41266124 | AF:0.19; DP:759 | PEDIATRIC | M | SARCOMA | Fibromatosis | v4 | 14 |
1687 | 768 | SV | SDHA | likely | truncation | splice site 312+1G>T | NM_004168 | chr5:224637 | AF:0.11; DP:206 | PEDIATRIC | M | SARCOMA | Fibromatosis | v4 | 14 | |
1688 | 769 | CN | SOX2 | likely | amplification | amplification | NM_003106 | chr3:181430625.0 | CN:6 | PEDIATRIC | F | SARCOMA | Unknown | v5 | 14 | |
1689 | 769 | RE | NF1 | likely | truncation | NF1 deletion | none | chr17:29654894 | SR:73 | PEDIATRIC | F | SARCOMA | Unknown | v5 | 14 | |
1690 | 769 | SV | PIK3CA | likely | point | G118D | 118 | NM_006218 | chr3:178917478 | AF:0.27; DP:589 | PEDIATRIC | F | SARCOMA | Unknown | v5 | 14 |
1691 | 769 | SV | CBL | likely | point | T402P | 402 | NM_005188 | chr11:119148984 | AF:0.92; DP:248 | PEDIATRIC | F | SARCOMA | Unknown | v5 | 14 |
1692 | 769 | SV | ATM | likely | truncation | splice site 2922-50_2940del69 | NM_000051 | chr11:108141927 | AF:0.95; DP:351 | PEDIATRIC | F | SARCOMA | Unknown | v5 | 14 | |
1693 | 770 | CN | TP53 | likely | deletion | deletion | NM_000546 | chr17:7577322.0 | CN:0 | PEDIATRIC | M | HEME | MLL | v4 | 13 | |
1694 | 770 | RE | MLL2 | likely | rearrangement | MLL2-MLL2 rearrangement | none | chr12:49439597 | SR:106 | PEDIATRIC | M | HEME | MLL | v4 | 13 | |
1695 | 770 | RE | MLL | likely | rearrangement | MLL-AFF1 fusion | none | chr11:118353167 | SR:2081 | PEDIATRIC | M | HEME | MLL | v4 | 13 | |
1696 | 770 | SV | CIC | likely | point | R213P | 213 | NM_015125 | chr19:42791752 | AF:0.17; DP:732 | PEDIATRIC | M | HEME | MLL | v4 | 13 |
1697 | 771 | SV | RUNX1 | likely | point | G165S | 165 | NM_001754 | chr21:36252869 | AF:0.33; DP:544 | PEDIATRIC | M | HEME | AML | v4 | 7 |
1698 | 771 | SV | EZH2 | likely | point | G159R | 159 | NM_004456 | chr7:148526829 | AF:0.37; DP:332 | PEDIATRIC | M | HEME | AML | v4 | 7 |
1699 | 771 | SV | PDCD11 | likely | point | R1737W | 1737 | NM_014976 | chr10:105203756 | AF:0.47; DP:428 | PEDIATRIC | M | HEME | AML | v4 | 7 |
1700 | 771 | SV | MEN1 | likely | truncation | R521fs*15 | 521 | NM_130801 | chr11:64572092 | AF:0.09; DP:597 | PEDIATRIC | M | HEME | AML | v4 | 7 |
1701 | 771 | SV | NF1 | likely | truncation | I679fs*21 | 679 | NM_001042492 | chr17:29553484 | AF:0.57; DP:545 | PEDIATRIC | M | HEME | AML | v4 | 7 |
1702 | 772 | SV | ASXL1 | likely | truncation | G646fs*12 | 646 | NM_015338 | chr20:31022449 | AF:0.26; DP:350 | PEDIATRIC | M | BRAIN | Ependymoma | v4 | 7 |
1703 | 773 | RE | RUNX1 | likely | rearrangement | RUNX1-RUNX1T1 fusion | none | chr21:36231817 | SR:5443 | PEDIATRIC | F | HEME | AML | v4 | 6 | |
1704 | 773 | SV | KIT | likely | point | N822K | 822 | NM_000222 | chr4:55599340 | AF:0.07; DP:321 | PEDIATRIC | F | HEME | AML | v4 | 6 |
1705 | 773 | SV | KIT | likely | point | Y418_D419>S | 418 | NM_000222 | chr4:55589772 | AF:0.05; DP:482 | PEDIATRIC | F | HEME | AML | v4 | 6 |
1706 | 773 | SV | CREBBP | likely | truncation | Q1079fs*21 | 1079 | NM_004380 | chr16:3817736 | AF:0.39; DP:383 | PEDIATRIC | F | HEME | AML | v4 | 6 |
1707 | 773 | SV | ETV6 | likely | truncation | A67fs*2 | 67 | NM_001987 | chr12:11992107 | AF:0.4; DP:369 | PEDIATRIC | F | HEME | AML | v4 | 6 |
1708 | 773 | SV | KIT | likely | point | S590_F591insVDHKWEFPRNPLS | 590 | NM_000222 | chr4:55593664 | AF:0.14; DP:458 | PEDIATRIC | F | HEME | AML | v4 | 6 |
1709 | 775 | RE | EWSR1 | likely | rearrangement | EWSR1-FLI1 fusion | none | chr22:29684754 | SR:516 | PEDIATRIC | F | SARCOMA | Ewing | v4 | 8 | |
1710 | 776 | SV | CDKN2A | likely | truncation | V59fs*54 | 59 | NM_000077 | chr9:21971164 | AF:0.8; DP:160 | PEDIATRIC | M | HEME | MLL | v4 | 11 |
1711 | 777 | RE | NTRK3 | likely | rearrangement | NTRK3-ETV6 fusion | none | chr15:88483918 | SR:59 | PEDIATRIC | F | SARCOMA | Hemangioma | v4 | 0 | |
1712 | 777 | SV | MAP3K14 | likely | truncation | R218fs*731 | 218 | NM_003954 | chr17:43364296 | AF:0.57; DP:717 | PEDIATRIC | F | SARCOMA | Hemangioma | v4 | 0 |
1713 | 778 | CN | IRF2 | likely | deletion | deletion | NM_002199 | chr4:185334357.0 | CN:0 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 11 | |
1714 | 778 | CN | FAT1 | likely | deletion | deletion | NM_005245 | chr4:187531854.0 | CN:0 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 11 | |
1715 | 778 | CN | PDGFRA | likely | amplification | amplification | NM_006206 | chr4:55139897.0 | CN:56 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 11 | |
1716 | 778 | CN | KIT | likely | amplification | amplification | NM_000222 | chr4:55593645.0 | CN:74 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 11 | |
1717 | 778 | RE | PDGFRA | likely | truncation | PDGFRA deletion | none | chr4:55135583 | SR:5816 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 11 | |
1718 | 778 | RE | KIT | likely | truncation | KIT truncation | none | chr4:55592193 | SR:17 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 11 | |
1719 | 778 | SV | CDKN2A | likely | truncation | R80* | 80 | NM_000077 | chr9:21971120 | AF:0.96; DP:538 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 11 |
1720 | 778 | SV | TP53 | likely | point | R282W | 282 | NM_000546 | chr17:7577094 | AF:0.47; DP:696 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 11 |
1721 | 778 | SV | TERT | likely | point | promoter -124C>T | NM_198253 | chr5:1295228 | AF:0.48; DP:42 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 11 | |
1722 | 778 | SV | BCOR | likely | truncation | G1429fs*11 | 1429 | NM_017745 | chrX:39921424 | AF:0.94; DP:229 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 11 |
1723 | 778 | SV | KDM6A | likely | truncation | splice site 3284+1G>C | NM_021140 | chrX:44942035 | AF:0.93; DP:255 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 11 | |
1724 | 779 | SV | XRCC2 | likely | point | R258H | 258 | NM_005431 | chr7:152345797 | AF:0.41; DP:199 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 1 |
1725 | 779 | SV | GLI1 | likely | point | P535S | 535 | NM_005269 | chr12:57864126 | AF:0.54; DP:415 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 1 |
1726 | 780 | SV | STK11 | likely | point | F354L | 354 | NM_000455 | chr19:1223125 | AF:0.53; DP:399 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 7 |
1727 | 781 | CN | SMARCB1 | likely | deletion | deletion | NM_003073 | chr22:24152283.0 | CN:0 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v4 | 16 | |
1728 | 781 | SV | TP53 | likely | truncation | splice site 920-12_934del27 | NM_000546 | chr17:7576911 | AF:0.23; DP:669 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v4 | 16 | |
1729 | 781 | SV | APC | likely | point | I1307K | 1307 | NM_000038 | chr5:112175211 | AF:0.45; DP:611 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v4 | 16 |
1730 | 782 | CN | MET | likely | amplification | amplification | NM_000245 | chr7:116406510.0 | CN:31 | PEDIATRIC | M | CARCINOMA | Upper GI | v5 | 15 | |
1731 | 782 | SV | CDKN1B | likely | truncation | G97fs*22 | 97 | NM_004064 | chr12:12871060 | AF:0.14; DP:353 | PEDIATRIC | M | CARCINOMA | Upper GI | v5 | 15 |
1732 | 782 | SV | TP53 | likely | point | R273H | 273 | NM_000546 | chr17:7577120 | AF:0.16; DP:364 | PEDIATRIC | M | CARCINOMA | Upper GI | v5 | 15 |
1733 | 783 | CN | KEL | likely | amplification | amplification | NM_000420 | chr7:142649660.0 | CN:11 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 7 | |
1734 | 783 | CN | CDK6 | likely | amplification | amplification | NM_001259 | chr7:92300794.0 | CN:8 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 7 | |
1735 | 783 | CN | MET | likely | amplification | amplification | NM_000245 | chr7:116406510.0 | CN:15 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 7 | |
1736 | 783 | CN | BRAF | likely | amplification | amplification | NM_004333 | chr7:140485129.0 | CN:12 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 7 | |
1737 | 783 | CN | PIK3CG | likely | amplification | amplification | NM_002649 | chr7:106521326.0 | CN:9 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 7 | |
1738 | 783 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:42 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 7 | |
1739 | 783 | SV | TP53 | likely | point | R342P | 342 | NM_000546 | chr17:7574002 | AF:0.95; DP:422 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 7 |
1740 | 784 | SV | WT1 | likely | truncation | V371fs*5 | 371 | NM_024426 | chr11:32417942 | AF:0.39; DP:420 | PEDIATRIC | F | HEME | AML | v4 | 9 |
1741 | 784 | SV | WT1 | likely | truncation | R370fs*15 | 370 | NM_024426 | chr11:32417944 | AF:0.36; DP:420 | PEDIATRIC | F | HEME | AML | v4 | 9 |
1742 | 786 | SV | TERT | likely | point | promoter -124C>T | NM_198253 | chr5:1295228 | AF:0.37; DP:52 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 6 | |
1743 | 787 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | HEME | ALL | v4 | 10 | |
1744 | 787 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | HEME | ALL | v4 | 10 | |
1745 | 787 | RE | CRLF2 | likely | rearrangement | CRLF2-P2RY8 fusion | none | chrX:1333566 | SR:22 | PEDIATRIC | F | HEME | ALL | v4 | 10 | |
1746 | 787 | SV | SH2B3 | likely | truncation | L416fs*4 | 416 | NM_005475 | chr12:111885469 | AF:0.27; DP:365 | PEDIATRIC | F | HEME | ALL | v4 | 10 |
1747 | 787 | SV | SH2B3 | likely | truncation | E523fs*23 | 523 | NM_005475 | chr12:111885944 | AF:0.25; DP:412 | PEDIATRIC | F | HEME | ALL | v4 | 10 |
1748 | 788 | RE | ETV6 | likely | rearrangement | ETV6-RUNX1 fusion | none | chr12:12033213 | SR:95 | PEDIATRIC | F | HEME | ALL | v4 | 9 | |
1749 | 789 | SV | TP53 | likely | point | R248Q | 248 | NM_000546 | chr17:7577538 | AF:0.45; DP:465 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 9 |
1750 | 790 | RE | MYST3 | likely | rearrangement | MYST3-NCOA2 fusion | none | chr8:41794821 | SR:273 | PEDIATRIC | F | HEME | AML | v4 | 0 | |
1751 | 790 | RE | RUNX1 | likely | truncation | RUNX1 truncation | none | chr21:36252922 | SR:332 | PEDIATRIC | F | HEME | AML | v4 | 0 | |
1752 | 790 | SV | FLT3 | likely | point | D835H | 835 | NM_004119 | chr13:28592642 | AF:0.02; DP:377 | PEDIATRIC | F | HEME | AML | v4 | 0 |
1753 | 791 | SV | MLL3 | likely | point | N3347S | 3347 | NM_170606 | chr7:151860622 | AF:0.46; DP:768 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 2 |
1754 | 792 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | CARCINOMA | Panc/biliary | v5 | 17 | |
1755 | 792 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | CARCINOMA | Panc/biliary | v5 | 17 | |
1756 | 792 | SV | TP53 | likely | point | E285K | 285 | NM_000546 | chr17:7577085 | AF:0.6; DP:545 | PEDIATRIC | M | CARCINOMA | Panc/biliary | v5 | 17 |
1757 | 792 | SV | SMARCA4 | likely | truncation | E1057* | 1057 | NM_003072 | chr19:11136976 | AF:0.6; DP:391 | PEDIATRIC | M | CARCINOMA | Panc/biliary | v5 | 17 |
1758 | 792 | SV | NF1 | likely | truncation | C2426fs*1 | 2426 | NM_001042492 | chr17:29676225 | AF:0.66; DP:558 | PEDIATRIC | M | CARCINOMA | Panc/biliary | v5 | 17 |
1759 | 793 | RE | CIITA | likely | rearrangement | CIITA-HGF fusion | none | chr16:10989175 | SR:56 | PEDIATRIC | M | HEME | ALL | v4 | 5 | |
1760 | 793 | SV | KRAS | likely | point | G12D | 12 | NM_004985 | chr12:25398284 | AF:0.33; DP:340 | PEDIATRIC | M | HEME | ALL | v4 | 5 |
1761 | 794 | RE | CDKN2B | likely | truncation | CDKN2B truncation | none | chr9:22003372 | SR:64 | PEDIATRIC | M | HEME | Lymphoma | v4 | 14 | |
1762 | 795 | CN | SUFU | likely | deletion | deletion | NM_016169 | chr10:104355373.0 | CN:0 | PEDIATRIC | M | SARCOMA | DSRC | v4 | 13 | |
1763 | 795 | CN | AKT3 | likely | amplification | amplification | NM_005465 | chr1:243756648.0 | CN:9 | PEDIATRIC | M | SARCOMA | DSRC | v4 | 13 | |
1764 | 795 | RE | EWSR1 | likely | rearrangement | EWSR1-WT1 fusion | none | chr22:29683057 | SR:102 | PEDIATRIC | M | SARCOMA | DSRC | v4 | 13 | |
1765 | 796 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | HEME | ALL | v4 | 9 | |
1766 | 796 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | HEME | ALL | v4 | 9 | |
1767 | 796 | SV | PHF6 | likely | truncation | F146fs*72 | 146 | NM_032458 | chrX:133547539 | AF:0.8; DP:227 | PEDIATRIC | M | HEME | ALL | v4 | 9 |
1768 | 796 | SV | NOTCH1 | likely | point | S2471_L2472ins* | NM_017617 | chr9:139390778 | AF:0.28; DP:1012 | PEDIATRIC | M | HEME | ALL | v4 | 9 | |
1769 | 797 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | HEME | Lymphoma | v4 | 18 | |
1770 | 797 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | HEME | Lymphoma | v4 | 18 | |
1771 | 797 | RE | NUP214 | likely | rearrangement | NUP214-SET fusion | none | chr9:134034821 | SR:1641 | PEDIATRIC | F | HEME | Lymphoma | v4 | 18 | |
1772 | 797 | SV | CDKN1B | likely | truncation | T157fs*44+ | 157 | NM_004064 | chr12:12871242 | AF:0.45; DP:320 | PEDIATRIC | F | HEME | Lymphoma | v4 | 18 |
1773 | 797 | SV | NOTCH1 | likely | truncation | T2511fs*8 | 2511 | NM_017617 | chr9:139390661 | AF:0.45; DP:526 | PEDIATRIC | F | HEME | Lymphoma | v4 | 18 |
1774 | 797 | SV | MLL2 | likely | truncation | C874fs*5 | 874 | NM_003482 | chr12:49444846 | AF:0.48; DP:519 | PEDIATRIC | F | HEME | Lymphoma | v4 | 18 |
1775 | 797 | SV | CDH1 | likely | point | S838G | 838 | NM_004360 | chr16:68867265 | AF:0.5; DP:438 | PEDIATRIC | F | HEME | Lymphoma | v4 | 18 |
1776 | 797 | SV | CDKN1B | likely | truncation | N61fs*66 | 61 | NM_004064 | chr12:12870955 | AF:0.46; DP:592 | PEDIATRIC | F | HEME | Lymphoma | v4 | 18 |
1777 | 799 | CN | MDM4 | likely | amplification | amplification | NM_002393 | chr1:204506988.0 | CN:17 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v4 | 2 | |
1778 | 799 | SV | NFE2L2 | likely | point | G65S | 65 | NM_001145412 | chr2:178098804 | AF:0.45; DP:622 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v4 | 2 |
1779 | 799 | SV | ARID1A | likely | truncation | L2281fs*7+ | 2281 | NM_006015 | chr1:27107231 | AF:0.29; DP:318 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v4 | 2 |
1780 | 800 | RE | PDGFB | likely | rearrangement | PDGFB-COL1A1 fusion | none | chr22:39631816 | SR:337 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v4 | 14 | |
1781 | 801 | SV | STAT4 | likely | truncation | T287fs*15 | 287 | NM_003151 | chr2:191927568 | AF:0.48; DP:381 | PEDIATRIC | F | CARCINOMA | Head and neck | v5 | 18 |
1782 | 801 | SV | BCOR | likely | truncation | G400fs*42 | 400 | NM_017745 | chrX:39933405 | AF:0.32; DP:783 | PEDIATRIC | F | CARCINOMA | Head and neck | v5 | 18 |
1783 | 802 | RE | MLL | likely | rearrangement | MLL-CBL fusion | none | chr11:118354332 | SR:122 | PEDIATRIC | M | HEME | Leukemia (NOS) | v4 | 5 | |
1784 | 802 | SV | JAK3 | likely | point | A573V | 573 | NM_000215 | chr19:17948006 | AF:0.38; DP:587 | PEDIATRIC | M | HEME | Leukemia (NOS) | v4 | 5 |
1785 | 802 | SV | RUNX1 | likely | truncation | A142fs*5 | 142 | NM_001754 | chr21:36252939 | AF:0.35; DP:711 | PEDIATRIC | M | HEME | Leukemia (NOS) | v4 | 5 |
1786 | 803 | SV | KRAS | likely | point | G12D | 12 | NM_004985 | chr12:25398284 | AF:0.27; DP:758 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 1 |
1787 | 803 | SV | BRCA2 | likely | truncation | T2766fs*11 | 2766 | NM_000059 | chr13:32937635 | AF:0.44; DP:698 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 1 |
1788 | 803 | SV | MAGI2 | likely | point | T328A | 328 | NM_012301 | chr7:78119141 | AF:0.51; DP:766 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 1 |
1789 | 804 | SV | NRAS | likely | point | G13D | 13 | NM_002524 | chr1:115258744 | AF:0.39; DP:256 | PEDIATRIC | F | HEME | ALL | v4 | 15 |
1790 | 805 | CN | ERBB3 | likely | amplification | amplification | NM_001982 | chr12:56488089.0 | CN:7 | PEDIATRIC | F | CARCINOMA | Gyn carcinoma | v5 | 14 | |
1791 | 805 | SV | SMARCA4 | likely | point | R1157W | 1157 | NM_003072 | chr19:11141492 | AF:0.82; DP:574 | PEDIATRIC | F | CARCINOMA | Gyn carcinoma | v5 | 14 |
1792 | 806 | SV | MLH1 | likely | point | R217C | 217 | NM_000249 | chr3:37053562 | AF:0.47; DP:590 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 3 |
1793 | 807 | SV | STAG2 | likely | truncation | splice site 2265+2T>C | NM_006603 | chrX:123200288 | AF:0.35; DP:576 | PEDIATRIC | F | SARCOMA | Ewing | v5 | 14 | |
1794 | 808 | RE | TET2 | likely | truncation | TET2 deletion | none | chr4:106196440 | SR:29 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 7 | |
1795 | 808 | SV | TP53 | likely | point | R248Q | 248 | NM_000546 | chr17:7577538 | AF:0.52; DP:524 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 7 |
1796 | 808 | SV | ATR | likely | truncation | splice site 2634-1G>A | NM_001184 | chr3:142272241 | AF:0.52; DP:366 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 7 | |
1797 | 809 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:87 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 3 | |
1798 | 809 | SV | SPTA1 | likely | truncation | splice site 1113-1G>T | NM_003126 | chr1:158644466 | AF:0.06; DP:551 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 3 | |
1799 | 810 | RE | EWSR1 | likely | rearrangement | EWSR1-FLI1 fusion | none | chr22:29683056 | SR:90 | PEDIATRIC | F | SARCOMA | Ewing | v4 | 16 | |
1800 | 811 | CN | MAP3K14 | likely | amplification | amplification | NM_003954 | chr17:43350922.0 | CN:8 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 0 | |
1801 | 811 | CN | RPTOR | likely | amplification | amplification | NM_020761 | chr17:78862231.0 | CN:8 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 0 | |
1802 | 812 | CN | CCND3 | likely | amplification | amplification | NM_001136017 | chr6:41905052.0 | CN:9 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 11 | |
1803 | 812 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 11 | |
1804 | 812 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 11 | |
1805 | 813 | SV | H3F3A | likely | point | K28M | 28 | NM_002107 | chr1:226252135 | AF:0.58; DP:537 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 10 |
1806 | 813 | SV | BRCA2 | likely | truncation | S3366fs*4 | 3366 | NM_000059 | chr13:32972746 | AF:0.4; DP:888 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 10 |
1807 | 813 | SV | PIK3R1 | likely | point | K567E | 567 | NM_181523 | chr5:67591106 | AF:0.41; DP:680 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 10 |
1808 | 814 | CN | PDGFRA | likely | amplification | amplification | NM_006206 | chr4:55139897.0 | CN:6 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 13 | |
1809 | 814 | SV | H3F3A | likely | point | G35R | 35 | NM_002107 | chr1:226252155 | AF:0.46; DP:355 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 13 |
1810 | 814 | SV | ATRX | likely | truncation | I1003fs*29 | 1003 | NM_000489 | chrX:76937739 | AF:0.88; DP:317 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 13 |
1811 | 816 | RE | PLAG1 | likely | rearrangement | PLAG1-HAS2 fusion | none | chr8:57080912 | SR:983 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v4 | 0 | |
1812 | 817 | SV | CTNNB1 | likely | point | S37F | 37 | NM_001904 | chr3:41266113 | AF:0.27; DP:682 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v4 | 4 |
1813 | 817 | SV | ASXL1 | likely | truncation | E602fs*101 | 602 | NM_015338 | chr20:31022318 | AF:0.13; DP:559 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v4 | 4 |
1814 | 818 | CN | NF2 | likely | deletion | deletion | NM_000268 | chr22:30061016.0 | CN:0 | PEDIATRIC | M | SARCOMA | RMS | v4 | 14 | |
1815 | 818 | CN | AURKB | likely | amplification | amplification | NM_004217 | chr17:8110350.0 | CN:10 | PEDIATRIC | M | SARCOMA | RMS | v4 | 14 | |
1816 | 819 | SV | JAK3 | likely | point | A573V | 573 | NM_000215 | chr19:17948006 | AF:0.18; DP:633 | PEDIATRIC | M | HEME | ALL | v4 | 18 |
1817 | 819 | SV | NOTCH1 | likely | truncation | S2467* | 2467 | NM_017617 | chr9:139390791 | AF:0.1; DP:876 | PEDIATRIC | M | HEME | ALL | v4 | 18 |
1818 | 820 | SV | DNMT3A | likely | point | G543C | 543 | NM_022552 | chr2:25467449 | AF:0.42; DP:498 | PEDIATRIC | M | HEME | MLL | v4 | 17 |
1819 | 820 | SV | KRAS | likely | point | K117N | 117 | NM_004985 | chr12:25378647 | AF:0.03; DP:443 | PEDIATRIC | M | HEME | MLL | v4 | 17 |
1820 | 820 | SV | GATA2 | likely | point | R362Q | 362 | NM_032638 | chr3:128200720 | AF:0.4; DP:536 | PEDIATRIC | M | HEME | MLL | v4 | 17 |
1821 | 820 | SV | NRAS | likely | point | G13V | 13 | NM_002524 | chr1:115258744 | AF:0.03; DP:584 | PEDIATRIC | M | HEME | MLL | v4 | 17 |
1822 | 821 | RE | EWSR1 | likely | rearrangement | EWSR1-FLI1 fusion | none | chr22:29683050 | SR:198 | PEDIATRIC | F | SARCOMA | Ewing | v4 | 15 | |
1823 | 821 | SV | TP53 | likely | truncation | R290fs*15 | 290 | NM_000546 | chr17:7577068 | AF:0.94; DP:308 | PEDIATRIC | F | SARCOMA | Ewing | v4 | 15 |
1824 | 821 | SV | STAG2 | likely | truncation | H637fs*14 | 637 | NM_006603 | chrX:123197784 | AF:0.46; DP:497 | PEDIATRIC | F | SARCOMA | Ewing | v4 | 15 |
1825 | 821 | SV | MKI67 | likely | point | R93C | 93 | NM_002417 | chr10:129921155 | AF:0.46; DP:378 | PEDIATRIC | F | SARCOMA | Ewing | v4 | 15 |
1826 | 823 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:193 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 1 | |
1827 | 823 | SV | MLL2 | likely | truncation | R5282* | 5282 | NM_003482 | chr12:49418670 | AF:0.06; DP:328 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 1 |
1828 | 824 | CN | RB1 | likely | deletion | deletion | NM_000321 | chr13:48953758.0 | CN:0 | PEDIATRIC | F | HEME | ALL | v4 | 13 | |
1829 | 824 | RE | IGH | likely | rearrangement | IGH-BCL2 fusion | none | chr14:106330209 | SR:248 | PEDIATRIC | F | HEME | ALL | v4 | 13 | |
1830 | 824 | RE | IGH | likely | rearrangement | IGH-N/A rearrangement | none | chr14:106329249 | SR:53 | PEDIATRIC | F | HEME | ALL | v4 | 13 | |
1831 | 825 | SV | PTPN11 | likely | point | E69K | 69 | NM_002834 | chr12:112888189 | AF:0.43; DP:499 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 5 |
1832 | 825 | SV | FGFR1 | likely | point | K656E | 656 | NM_023110 | chr8:38272308 | AF:0.45; DP:719 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 5 |
1833 | 826 | CN | FGF14 | likely | amplification | amplification | NM_175929 | chr13:102524359.0 | CN:8 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 13 | |
1834 | 826 | CN | IRS2 | likely | amplification | amplification | NM_003749 | chr13:110421551.0 | CN:8 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 13 | |
1835 | 826 | SV | FGFR1 | likely | point | K656E | 656 | NM_023110 | chr8:38272308 | AF:0.59; DP:655 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 13 |
1836 | 826 | SV | PTPN11 | likely | point | G60V | 60 | NM_002834 | chr12:112888163 | AF:0.61; DP:551 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 13 |
1837 | 826 | SV | H3F3A | likely | point | K28M | 28 | NM_002107 | chr1:226252135 | AF:0.32; DP:387 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 13 |
1838 | 826 | SV | ATRX | likely | truncation | K433* | 433 | NM_000489 | chrX:76939451 | AF:0.47; DP:441 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 13 |
1839 | 827 | SV | NF2 | likely | point | E463K | 463 | NM_000268 | chr22:30070871 | AF:0.5; DP:465 | PEDIATRIC | M | CARCINOMA | Kidney | v5 | 15 |
1840 | 828 | SV | TP53 | likely | truncation | Y103fs*40 | 103 | NM_000546 | chr17:7579363 | AF:0.41; DP:418 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 9 |
1841 | 829 | RE | EGFR | likely | rearrangement | EGFR-EGFR duplication | none | chr7:55241675 | SR:306 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 2 | |
1842 | 829 | SV | FBXW7 | likely | point | R465H | 465 | NM_033632 | chr4:153249384 | AF:0.22; DP:626 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 2 |
1843 | 830 | CN | CCND2 | likely | amplification | amplification | NM_001759 | chr12:4388005.0 | CN:77 | PEDIATRIC | F | SARCOMA | RMS | v4 | 4 | |
1844 | 830 | CN | FGF23 | likely | amplification | amplification | NM_020638 | chr12:4481811.0 | CN:77 | PEDIATRIC | F | SARCOMA | RMS | v4 | 4 | |
1845 | 830 | CN | FGF6 | likely | amplification | amplification | NM_020996 | chr12:4553350.0 | CN:77 | PEDIATRIC | F | SARCOMA | RMS | v4 | 4 | |
1846 | 830 | CN | MYCL1 | likely | amplification | amplification | NM_005376 | chr1:40365126.0 | CN:87 | PEDIATRIC | F | SARCOMA | RMS | v4 | 4 | |
1847 | 831 | RE | EWSR1 | likely | rearrangement | EWSR1-FLI1 fusion | none | chr22:29683063 | SR:689 | PEDIATRIC | F | BRAIN | PNET | v4 | 17 | |
1848 | 832 | SV | ASXL1 | likely | truncation | V751fs*21 | 751 | NM_015338 | chr20:31022764 | AF:0.03; DP:690 | PEDIATRIC | F | HEME | MDS and/or MPN | v4 | 16 |
1849 | 833 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | HEME | ALL | v4 | 16 | |
1850 | 833 | RE | PTEN | likely | truncation | PTEN truncation | none | chr10:89624296 | SR:78 | PEDIATRIC | M | HEME | ALL | v4 | 16 | |
1851 | 834 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | HEME | Lymphoma | v4 | 9 | |
1852 | 834 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | HEME | Lymphoma | v4 | 9 | |
1853 | 834 | RE | ABL1 | likely | rearrangement | ABL1-RCSD1 fusion | none | chr9:133738193 | SR:1499 | PEDIATRIC | F | HEME | Lymphoma | v4 | 9 | |
1854 | 835 | RE | EWSR1 | likely | rearrangement | EWSR1-CREB1 fusion | none | chr22:29684394 | SR:6 | PEDIATRIC | F | SARCOMA | Soft tissue assorted | v4 | 13 | |
1855 | 836 | SV | BRAF | likely | point | K601E | 601 | NM_004333 | chr7:140453134 | AF:0.32; DP:648 | PEDIATRIC | F | SARCOMA | RMS | v5 | 7 |
1856 | 836 | SV | NCOR1 | likely | point | G151D | 151 | NM_006311 | chr17:16068459 | AF:0.07; DP:543 | PEDIATRIC | F | SARCOMA | RMS | v5 | 7 |
1857 | 836 | SV | KRAS | likely | point | A146V | 146 | NM_004985 | chr12:25378561 | AF:0.3; DP:631 | PEDIATRIC | F | SARCOMA | RMS | v5 | 7 |
1858 | 836 | SV | CDKN2A | likely | truncation | splice site 151-2A>C | NM_000077 | chr9:21971209 | AF:0.52; DP:351 | PEDIATRIC | F | SARCOMA | RMS | v5 | 7 | |
1859 | 836 | SV | CREBBP | likely | truncation | S121fs*16 | 121 | NM_004380 | chr16:3900738 | AF:0.33; DP:717 | PEDIATRIC | F | SARCOMA | RMS | v5 | 7 |
1860 | 838 | CN | CDK4 | likely | amplification | amplification | NM_000075 | chr12:58144493.0 | CN:6 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 6 | |
1861 | 838 | RE | EWSR1 | likely | rearrangement | EWSR1-FLI1 fusion | none | chr22:29684383 | SR:103 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 6 | |
1862 | 839 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | HEME | ALL | v4 | 13 | |
1863 | 839 | SV | PAX5 | likely | point | V26G | 26 | NM_016734 | chr9:37020768 | AF:0.04; DP:628 | PEDIATRIC | M | HEME | ALL | v4 | 13 |
1864 | 839 | SV | MLL2 | likely | truncation | Q3724* | 3724 | NM_003482 | chr12:49427318 | AF:0.07; DP:764 | PEDIATRIC | M | HEME | ALL | v4 | 13 |
1865 | 839 | SV | JAK2 | likely | point | R683G | 683 | NM_004972 | chr9:5078360 | AF:0.31; DP:666 | PEDIATRIC | M | HEME | ALL | v4 | 13 |
1866 | 839 | SV | MPL | likely | point | P106L | 106 | NM_005373 | chr1:43804317 | AF:0.48; DP:643 | PEDIATRIC | M | HEME | ALL | v4 | 13 |
1867 | 839 | SV | JAK2 | likely | point | R683S | 683 | NM_004972 | chr9:5078362 | AF:0.02; DP:657 | PEDIATRIC | M | HEME | ALL | v4 | 13 |
1868 | 840 | RE | BRAF | likely | rearrangement | BRAF-KIAA1549 fusion | none | chr7:140491291 | SR:67 | PEDIATRIC | M | BRAIN | Glioma | v5 | 14 | |
1869 | 841 | RE | EWSR1 | likely | rearrangement | EWSR1-ERG fusion | none | chr22:29683048 | SR:1394 | PEDIATRIC | F | SARCOMA | Ewing | v4 | 6 | |
1870 | 841 | SV | FANCA | likely | point | M160I | 160 | NM_000135 | chr16:89877157 | AF:0.49; DP:653 | PEDIATRIC | F | SARCOMA | Ewing | v4 | 6 |
1871 | 841 | SV | STAG2 | likely | truncation | I729fs*12 | 729 | NM_006603 | chrX:123200207 | AF:0.84; DP:419 | PEDIATRIC | F | SARCOMA | Ewing | v4 | 6 |
1872 | 841 | SV | TP53 | likely | point | R273C | 273 | NM_000546 | chr17:7577121 | AF:0.88; DP:484 | PEDIATRIC | F | SARCOMA | Ewing | v4 | 6 |
1873 | 842 | RE | NF2 | likely | rearrangement | NF2-N/A rearrangement | none | chr22:30091282 | SR:107 | PEDIATRIC | F | HEME | AML | v4 | 15 | |
1874 | 842 | SV | CEBPA | likely | point | R327_V338ins20 | NM_004364 | chr19:33792334 | AF:0.26; DP:817 | PEDIATRIC | F | HEME | AML | v4 | 15 | |
1875 | 842 | SV | CSF3R | likely | point | T618I | 618 | NM_156039 | chr1:36933434 | AF:0.46; DP:764 | PEDIATRIC | F | HEME | AML | v4 | 15 |
1876 | 842 | SV | CEBPA | likely | truncation | P70fs*39 | 70 | NM_004364 | chr19:33793119 | AF:0.45; DP:409 | PEDIATRIC | F | HEME | AML | v4 | 15 |
1877 | 842 | SV | CHEK2 | likely | truncation | T367fs*15 | 367 | NM_007194 | chr22:29091856 | AF:0.49; DP:288 | PEDIATRIC | F | HEME | AML | v4 | 15 |
1878 | 843 | SV | SMARCB1 | likely | truncation | R201* | 201 | NM_003073 | chr22:24145582 | AF:0.85; DP:308 | PEDIATRIC | F | BRAIN | Atypical Teratoid Rhaboid Tumor (ATRT) | v5 | 0 |
1879 | 844 | SV | ALK | likely | point | F1245V | 1245 | NM_004304 | chr2:29436860 | AF:0.09; DP:472 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 1 |
1880 | 844 | SV | KRAS | likely | point | G12A | 12 | NM_004985 | chr12:25398284 | AF:0.02; DP:703 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 1 |
1881 | 844 | SV | KRAS | likely | point | K117N | 117 | NM_004985 | chr12:25378647 | AF:0.02; DP:708 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 1 |
1882 | 845 | RE | BRAF | likely | rearrangement | BRAF-KIAA1549 fusion | none | chr7:140493961 | SR:23 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 14 | |
1883 | 846 | SV | DNMT3A | likely | truncation | splice site 2322+1G>T | NM_022552 | chr2:25463170 | AF:0.23; DP:502 | PEDIATRIC | M | BRAIN | Glioma | v5 | 13 | |
1884 | 847 | SV | IGF1R | likely | point | R252H | 252 | NM_000875 | chr15:99434668 | AF:0.51; DP:626 | PEDIATRIC | M | CARCINOMA | Lung | v5 | 18 |
1885 | 847 | SV | TP53 | likely | point | C176F | 176 | NM_000546 | chr17:7578403 | AF:0.17; DP:501 | PEDIATRIC | M | CARCINOMA | Lung | v5 | 18 |
1886 | 847 | SV | RB1 | likely | truncation | R320* | 320 | NM_000321 | chr13:48941648 | AF:0.07; DP:430 | PEDIATRIC | M | CARCINOMA | Lung | v5 | 18 |
1887 | 848 | RE | EWSR1 | likely | rearrangement | EWSR1-FLI1 fusion | none | chr22:29683060 | SR:815 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 16 | |
1888 | 849 | RE | ALK | likely | rearrangement | ALK-CLTC fusion | none | chr2:29446301 | SR:71 | PEDIATRIC | M | HEME | Lymphoma | v4 | 17 | |
1889 | 850 | RE | MYH11 | likely | rearrangement | MYH11-CBFB fusion | none | chr16:15814823 | SR:231 | PEDIATRIC | M | HEME | AML | v4 | 9 | |
1890 | 850 | SV | FLT3 | likely | point | D835Y | 835 | NM_004119 | chr13:28592642 | AF:0.02; DP:484 | PEDIATRIC | M | HEME | AML | v4 | 9 |
1891 | 850 | SV | KRAS | likely | point | G12A | 12 | NM_004985 | chr12:25398284 | AF:0.06; DP:475 | PEDIATRIC | M | HEME | AML | v4 | 9 |
1892 | 850 | SV | IDH2 | likely | point | R140W | 140 | NM_002168 | chr15:90631935 | AF:0.06; DP:574 | PEDIATRIC | M | HEME | AML | v4 | 9 |
1893 | 850 | SV | NRAS | likely | point | G13R | 13 | NM_002524 | chr1:115258745 | AF:0.09; DP:558 | PEDIATRIC | M | HEME | AML | v4 | 9 |
1894 | 851 | SV | RET | likely | point | L633V | 633 | NM_020975 | chr10:43609945 | AF:0.52; DP:654 | PEDIATRIC | M | SARCOMA | Hemangioendothelioma | v4 | 15 |
1895 | 852 | RE | CRLF2 | likely | rearrangement | CRLF2-P2RY8 fusion | none | chrX:1327796 | SR:886 | PEDIATRIC | F | HEME | ALL | v4 | 14 | |
1896 | 852 | RE | BRD4 | likely | rearrangement | BRD4-CREBBP fusion | none | chr19:15383896 | SR:284 | PEDIATRIC | F | HEME | ALL | v4 | 14 | |
1897 | 852 | SV | HNF1A | likely | point | A174V | 174 | NM_000545 | chr12:121426830 | AF:0.85; DP:523 | PEDIATRIC | F | HEME | ALL | v4 | 14 |
1898 | 852 | SV | SETD2 | likely | truncation | splice site 6060+0insGA | NM_014159 | chr3:47125209 | AF:0.32; DP:400 | PEDIATRIC | F | HEME | ALL | v4 | 14 | |
1899 | 852 | SV | PTPN11 | likely | point | E76A | 76 | NM_002834 | chr12:112888211 | AF:0.31; DP:537 | PEDIATRIC | F | HEME | ALL | v4 | 14 |
1900 | 853 | CN | ERBB3 | likely | amplification | amplification | NM_001982 | chr12:56488089.0 | CN:7 | PEDIATRIC | M | SARCOMA | Unknown | v4 | 17 | |
1901 | 853 | CN | CDK4 | likely | amplification | amplification | NM_000075 | chr12:58144493.0 | CN:8 | PEDIATRIC | M | SARCOMA | Unknown | v4 | 17 | |
1902 | 853 | CN | C17orf39 | likely | amplification | amplification | NM_024052 | chr17:17959863.0 | CN:16 | PEDIATRIC | M | SARCOMA | Unknown | v4 | 17 | |
1903 | 853 | CN | TP53 | likely | deletion | deletion | NM_000546 | chr17:7577322.0 | CN:0 | PEDIATRIC | M | SARCOMA | Unknown | v4 | 17 | |
1904 | 853 | CN | MAP2K2 | likely | amplification | amplification | NM_030662 | chr19:4101079.0 | CN:6 | PEDIATRIC | M | SARCOMA | Unknown | v4 | 17 | |
1905 | 853 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:17 | PEDIATRIC | M | SARCOMA | Unknown | v4 | 17 | |
1906 | 853 | RE | ATRX | likely | truncation | ATRX truncation | none | chrX:76812952 | SR:36 | PEDIATRIC | M | SARCOMA | Unknown | v4 | 17 | |
1907 | 853 | RE | FLCN | likely | truncation | FLCN truncation | none | chr17:17120304 | SR:116 | PEDIATRIC | M | SARCOMA | Unknown | v4 | 17 | |
1908 | 853 | RE | BRD4 | likely | truncation | BRD4 truncation | none | chr19:15360097 | SR:84 | PEDIATRIC | M | SARCOMA | Unknown | v4 | 17 | |
1909 | 854 | RE | ETV6 | likely | truncation | ETV6 truncation | none | chr12:11905407 | SR:153 | PEDIATRIC | F | HEME | ALL | v4 | 13 | |
1910 | 854 | RE | RUNX1 | likely | truncation | RUNX1 truncation | none | chr21:36421252 | SR:453 | PEDIATRIC | F | HEME | ALL | v4 | 13 | |
1911 | 854 | SV | NOTCH1 | likely | point | N1603_V1604insK | 1603 | NM_017617 | chr9:139399333 | AF:0.42; DP:464 | PEDIATRIC | F | HEME | ALL | v4 | 13 |
1912 | 854 | SV | NRAS | likely | point | G13D | 13 | NM_002524 | chr1:115258744 | AF:0.48; DP:568 | PEDIATRIC | F | HEME | ALL | v4 | 13 |
1913 | 854 | SV | WT1 | likely | truncation | L378fs*8 | 378 | NM_024426 | chr11:32417921 | AF:0.45; DP:366 | PEDIATRIC | F | HEME | ALL | v4 | 13 |
1914 | 855 | RE | BRAF | likely | rearrangement | BRAF-KIAA1549 fusion | none | chr7:140487605 | SR:4 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 12 | |
1915 | 856 | SV | CTNNB1 | likely | point | S45F | 45 | NM_001904 | chr3:41266137 | AF:0.32; DP:662 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 3 |
1916 | 856 | SV | EPHB4 | likely | point | G40R | 40 | NM_004444 | chr7:100421830 | AF:0.36; DP:513 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 3 |
1917 | 857 | SV | SMARCA4 | likely | truncation | R1093* | 1093 | NM_003072 | chr19:11138521 | AF:0.75; DP:361 | PEDIATRIC | M | BRAIN | Atypical Teratoid Rhaboid Tumor (ATRT) | v5 | 0 |
1918 | 859 | RE | HEY1 | likely | rearrangement | HEY1-NCOA2 fusion | none | chr8:80678904 | SR:1370 | PEDIATRIC | M | SARCOMA | Soft tissue (NOS) | v4 | 14 | |
1919 | 860 | SV | FGFR1 | likely | point | K656E | 656 | NM_023110 | chr8:38272308 | AF:0.11; DP:853 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 17 |
1920 | 861 | CN | ZNF217 | likely | amplification | amplification | NM_006526 | chr20:52194343.0 | CN:6 | PEDIATRIC | F | BRAIN | PNET | v5 | 1 | |
1921 | 862 | SV | TP53 | likely | point | C238R | 238 | NM_000546 | chr17:7577569 | AF:0.92; DP:298 | PEDIATRIC | M | HEME | MDS and/or MPN | v4 | 3 |
1922 | 863 | CN | AKT2 | likely | amplification | amplification | NM_001626 | chr19:40744846.0 | CN:23 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 6 | |
1923 | 863 | CN | FGFR4 | likely | amplification | amplification | NM_002011 | chr5:176520601.0 | CN:6 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 6 | |
1924 | 863 | SV | GRIN2A | likely | point | R1169Q | 1169 | NM_000833 | chr16:9857895 | AF:0.19; DP:553 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 6 |
1925 | 863 | SV | ARID2 | likely | truncation | splice site 187-1G>A | NM_152641 | chr12:46124999 | AF:0.29; DP:574 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 6 | |
1926 | 863 | SV | TP53 | likely | point | R175H | 175 | NM_000546 | chr17:7578406 | AF:0.66; DP:441 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 6 |
1927 | 864 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:192 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 4 | |
1928 | 865 | SV | APC | likely | truncation | E1464fs*8 | 1464 | NM_000038 | chr5:112175681 | AF:0.56; DP:208 | PEDIATRIC | M | SARCOMA | Fibromatosis | v4 | 17 |
1929 | 865 | SV | MLH1 | likely | point | H543R | 543 | NM_000249 | chr3:37081746 | AF:0.53; DP:407 | PEDIATRIC | M | SARCOMA | Fibromatosis | v4 | 17 |
1930 | 866 | SV | LRP1B | likely | point | D432E | 432 | NM_018557 | chr2:141816564 | AF:0.5; DP:410 | PEDIATRIC | M | BRAIN | Ependymoma | v5 | 10 |
1931 | 867 | CN | MET | likely | amplification | amplification | NM_000245 | chr7:116406510.0 | CN:49 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 5 | |
1932 | 867 | RE | ETV6 | likely | rearrangement | ETV6-CLEC1B rearrangement | none | chr12:12023515 | SR:13 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 5 | |
1933 | 867 | SV | H3F3A | likely | point | K28M | 28 | NM_002107 | chr1:226252135 | AF:0.45; DP:350 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 5 |
1934 | 867 | SV | TP53 | likely | truncation | splice site 375+1G>A | NM_000546 | chr17:7579311 | AF:0.79; DP:236 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 5 | |
1935 | 868 | CN | CDK4 | likely | amplification | amplification | NM_000075 | chr12:58144493.0 | CN:43 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 13 | |
1936 | 868 | CN | C17orf39 | likely | amplification | amplification | NM_024052 | chr17:17959863.0 | CN:7 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 13 | |
1937 | 868 | CN | TP53 | likely | deletion | deletion | NM_000546 | chr17:7577322.0 | CN:0 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 13 | |
1938 | 868 | CN | CCND3 | likely | amplification | amplification | NM_001136017 | chr6:41905052.0 | CN:7 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 13 | |
1939 | 868 | SV | ATRX | likely | truncation | Q1848* | 1848 | NM_000489 | chrX:76872105 | AF:0.54; DP:181 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 13 |
1940 | 869 | CN | SMARCB1 | likely | deletion | deletion | NM_003073 | chr22:24152283.0 | CN:0 | PEDIATRIC | M | SARCOMA | Soft tissue (NOS) | v4 | 0 | |
1941 | 870 | SV | NF2 | likely | point | D45_L46insVL | 45 | NM_000268 | chr22:30032760 | AF:0.59; DP:535 | PEDIATRIC | F | BRAIN | Meningioma | v5 | 5 |
1942 | 871 | CN | SMARCB1 | likely | deletion | deletion | NM_003073 | chr22:24152283.0 | CN:0 | PEDIATRIC | M | SARCOMA | RMS | v4 | 0 | |
1943 | 871 | SV | PASK | likely | truncation | V781fs*9 | 781 | NM_015148 | chr2:242065975 | AF:0.44; DP:635 | PEDIATRIC | M | SARCOMA | RMS | v4 | 0 |
1944 | 872 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:7 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 8 | |
1945 | 872 | CN | EGFR | likely | amplification | amplification | NM_005228 | chr7:55234642.0 | CN:90 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 8 | |
1946 | 872 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:46 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 8 | |
1947 | 872 | SV | TP53 | likely | point | R282W | 282 | NM_000546 | chr17:7577094 | AF:0.8; DP:280 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 8 |
1948 | 875 | SV | ALK | likely | point | A421V | 421 | NM_004304 | chr2:29606618 | AF:0.02; DP:774 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 14 |
1949 | 875 | SV | FAT3 | likely | point | V3962M | 3962 | NM_001008781 | chr11:92600132 | AF:0.03; DP:549 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 14 |
1950 | 875 | SV | DOT1L | likely | point | V59I | 59 | NM_032482 | chr19:2185903 | AF:0.02; DP:945 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 14 |
1951 | 875 | SV | KRAS | likely | point | G12V | 12 | NM_004985 | chr12:25398284 | AF:0.1; DP:610 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 14 |
1952 | 875 | SV | LZTR1 | likely | point | G248R | 248 | NM_006767 | chr22:21344765 | AF:0.08; DP:743 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 14 |
1953 | 875 | SV | MAP2K1 | likely | point | E203K | 203 | NM_002755 | chr15:66774131 | AF:0.02; DP:998 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 14 |
1954 | 875 | SV | MSH6 | likely | point | E484K | 484 | NM_000179 | chr2:48026572 | AF:0.03; DP:920 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 14 |
1955 | 875 | SV | MSH6 | likely | point | T1219I | 1219 | NM_000179 | chr2:48033352 | AF:0.14; DP:505 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 14 |
1956 | 875 | SV | NF1 | likely | truncation | R416* | 416 | NM_001042492 | chr17:29528489 | AF:0.02; DP:419 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 14 |
1957 | 875 | SV | NRAS | likely | point | G12D | 12 | NM_002524 | chr1:115258747 | AF:0.22; DP:649 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 14 |
1958 | 875 | SV | PIK3CA | likely | point | G106V | 106 | NM_006218 | chr3:178916930 | AF:0.35; DP:644 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 14 |
1959 | 875 | SV | PIK3CA | likely | point | G364R | 364 | NM_006218 | chr3:178922321 | AF:0.04; DP:459 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 14 |
1960 | 875 | SV | PIK3CA | likely | point | P471L | 471 | NM_006218 | chr3:178928226 | AF:0.02; DP:522 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 14 |
1961 | 875 | SV | TP53 | likely | point | E294K | 294 | NM_000546 | chr17:7577058 | AF:0.09; DP:940 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 14 |
1962 | 875 | SV | NF1 | likely | truncation | splice site 7457+1G>A | NM_001042492 | chr17:29677337 | AF:0.09; DP:369 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 14 | |
1963 | 875 | SV | NF1 | likely | truncation | splice site 7458-1G>A | NM_001042492 | chr17:29679274 | AF:0.06; DP:444 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 14 | |
1964 | 875 | SV | RAD50 | likely | truncation | Q233* | 233 | NM_005732 | chr5:131915699 | AF:0.11; DP:389 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 14 |
1965 | 876 | SV | NRAS | likely | point | G12C | 12 | NM_002524 | chr1:115258748 | AF:0.32; DP:434 | PEDIATRIC | M | HEME | ALL | v4 | 8 |
1966 | 876 | SV | WHSC1 | likely | point | T1150A | 1150 | NM_133335 | chr4:1976665 | AF:0.34; DP:526 | PEDIATRIC | M | HEME | ALL | v4 | 8 |
1967 | 877 | SV | ALK | likely | point | R1275Q | 1275 | NM_004304 | chr2:29432664 | AF:0.48; DP:529 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 7 |
1968 | 877 | SV | RICTOR | likely | point | L121V | 121 | NM_152756 | chr5:39002668 | AF:0.01; DP:633 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 7 |
1969 | 878 | CN | IRS2 | likely | amplification | amplification | NM_003749 | chr13:110421551.0 | CN:8 | PEDIATRIC | F | SARCOMA | RMS | v4 | 15 | |
1970 | 878 | CN | ALK | likely | amplification | amplification | NM_004304 | chr2:29455242.0 | CN:70 | PEDIATRIC | F | SARCOMA | RMS | v4 | 15 | |
1971 | 878 | RE | FOXO1 | likely | rearrangement | FOXO1-PAX3 fusion | none | chr13:41134894 | SR:298 | PEDIATRIC | F | SARCOMA | RMS | v4 | 15 | |
1972 | 879 | CN | PTEN | likely | deletion | deletion | NM_000314 | chr10:89692889.0 | CN:0 | PEDIATRIC | F | SARCOMA | MPNST | v4 | 5 | |
1973 | 879 | CN | FAS | likely | deletion | deletion | NM_000043 | chr10:90770476.0 | CN:0 | PEDIATRIC | F | SARCOMA | MPNST | v4 | 5 | |
1974 | 879 | SV | NF1 | likely | truncation | R1176fs*18 | 1176 | NM_001042492 | chr17:29560047 | AF:0.57; DP:454 | PEDIATRIC | F | SARCOMA | MPNST | v4 | 5 |
1975 | 881 | SV | PTEN | likely | truncation | R233* | 233 | NM_000314 | chr10:89717672 | AF:0.02; DP:385 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 5 |
1976 | 881 | SV | MLL2 | likely | truncation | L4450fs*34 | 4450 | NM_003482 | chr12:49425133 | AF:0.39; DP:574 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 5 |
1977 | 882 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:199 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 2 | |
1978 | 882 | SV | KRAS | likely | point | G12V | 12 | NM_004985 | chr12:25398284 | AF:0.36; DP:480 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 2 |
1979 | 882 | SV | NOTCH4 | likely | truncation | splice site 2320+1G>A | NM_004557 | chr6:32181464 | AF:0.47; DP:351 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 2 | |
1980 | 882 | SV | NRAS | likely | point | Q61R | 61 | NM_002524 | chr1:115256529 | AF:0.41; DP:477 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 2 |
1981 | 883 | CN | SOX2 | likely | amplification | amplification | NM_003106 | chr3:181430625.0 | CN:6 | PEDIATRIC | M | BRAIN | Glioma | v5 | 12 | |
1982 | 883 | SV | FGFR1 | likely | point | K656E | 656 | NM_023110 | chr8:38272308 | AF:0.65; DP:623 | PEDIATRIC | M | BRAIN | Glioma | v5 | 12 |
1983 | 884 | CN | C17orf39 | likely | amplification | amplification | NM_024052 | chr17:17959863.0 | CN:12 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 8 | |
1984 | 884 | RE | KEAP1 | likely | rearrangement | KEAP1-KCNN1 rearrangement | none | chr19:10600458 | SR:60 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 8 | |
1985 | 884 | SV | CD36 | likely | truncation | Y291fs*2 | 291 | NM_000072 | chr7:80300345 | AF:0.44; DP:861 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 8 |
1986 | 884 | SV | TP53 | likely | truncation | splice site 993+1G>A | NM_000546 | chr17:7576852 | AF:0.86; DP:641 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 8 | |
1987 | 884 | SV | RB1 | likely | truncation | Q471* | 471 | NM_000321 | chr13:48954210 | AF:0.79; DP:280 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 8 |
1988 | 885 | CN | PTEN | likely | deletion | deletion | NM_000314 | chr10:89692889.0 | CN:0 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 18 | |
1989 | 885 | SV | TP53 | likely | point | L145P | 145 | NM_000546 | chr17:7578496 | AF:0.34; DP:487 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 18 |
1990 | 887 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | BRAIN | Glioma | v5 | 14 | |
1991 | 887 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | BRAIN | Glioma | v5 | 14 | |
1992 | 887 | RE | NF2 | likely | rearrangement | NF2-N/A rearrangement | none | chr22:30064473 | SR:15 | PEDIATRIC | M | BRAIN | Glioma | v5 | 14 | |
1993 | 887 | SV | FANCA | likely | truncation | C846fs*20 | 846 | NM_000135 | chr16:89833619 | AF:0.42; DP:400 | PEDIATRIC | M | BRAIN | Glioma | v5 | 14 |
1994 | 887 | SV | BRAF | likely | point | V600E | 600 | NM_004333 | chr7:140453136 | AF:0.16; DP:367 | PEDIATRIC | M | BRAIN | Glioma | v5 | 14 |
1995 | 889 | SV | NRAS | likely | point | Q61R | 61 | NM_002524 | chr1:115256529 | AF:0.17; DP:514 | PEDIATRIC | F | SARCOMA | Hemangioma | v4 | 3 |
1996 | 890 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 12 | |
1997 | 890 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 12 | |
1998 | 890 | SV | APCDD1 | likely | point | R434C | 434 | NM_153000 | chr18:10487790 | AF:0.02; DP:833 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 12 |
1999 | 890 | SV | KRAS | likely | point | G13D | 13 | NM_004985 | chr12:25398281 | AF:0.02; DP:1058 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 12 |
2000 | 890 | SV | H3F3A | likely | point | G35R | 35 | NM_002107 | chr1:226252155 | AF:0.45; DP:456 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 12 |
2001 | 890 | SV | PIK3CA | likely | point | Q546E | 546 | NM_006218 | chr3:178936094 | AF:0.48; DP:463 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 12 |
2002 | 890 | SV | PTEN | likely | truncation | K267fs*9 | 267 | NM_000314 | chr10:89717774 | AF:0.77; DP:377 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 12 |
2003 | 890 | SV | ROS1 | likely | point | E2296K | 2296 | NM_002944 | chr6:117609813 | AF:0.02; DP:732 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 12 |
2004 | 890 | SV | TP53 | likely | point | H193Y | 193 | NM_000546 | chr17:7578272 | AF:0.48; DP:745 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 12 |
2005 | 890 | SV | ATRX | likely | truncation | E1279fs*66 | 1279 | NM_000489 | chrX:76920240 | AF:0.92; DP:254 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 12 |
2006 | 890 | SV | NF1 | likely | truncation | splice site 204+1G>A | NM_001042492 | chr17:29483145 | AF:0.83; DP:208 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 12 | |
2007 | 890 | SV | NOTCH2 | likely | truncation | S856fs*17 | 856 | NM_024408 | chr1:120491664 | AF:0.46; DP:621 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 12 |
2008 | 890 | SV | TP53 | likely | truncation | L93fs*30 | 93 | NM_000546 | chr17:7579408 | AF:0.47; DP:832 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 12 |
2009 | 891 | CN | JUN | likely | amplification | amplification | NM_002228 | chr1:59248244.0 | CN:6 | PEDIATRIC | M | CARCINOMA | Lower GI | v5 | 15 | |
2010 | 891 | CN | ZNF703 | likely | amplification | amplification | NM_025069 | chr8:37554201.0 | CN:11 | PEDIATRIC | M | CARCINOMA | Lower GI | v5 | 15 | |
2011 | 891 | CN | FGFR1 | likely | amplification | amplification | NM_023110 | chr8:38276471.0 | CN:11 | PEDIATRIC | M | CARCINOMA | Lower GI | v5 | 15 | |
2012 | 891 | SV | TP53 | likely | truncation | R213* | 213 | NM_000546 | chr17:7578212 | AF:0.16; DP:437 | PEDIATRIC | M | CARCINOMA | Lower GI | v5 | 15 |
2013 | 893 | RE | FGFR1 | likely | rearrangement | FGFR1-FGFR1 duplication | none | chr8:38271303 | SR:323 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 11 | |
2014 | 893 | SV | EPHA7 | likely | truncation | R426* | 426 | NM_004440 | chr6:94066483 | AF:0.02; DP:690 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 11 |
2015 | 894 | CN | RB1 | likely | deletion | deletion | NM_000321 | chr13:48953758.0 | CN:0 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 9 | |
2016 | 894 | CN | IGF1R | likely | amplification | amplification | NM_000875 | chr15:99465518.0 | CN:16 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 9 | |
2017 | 895 | SV | ETV6 | likely | truncation | S26fs*41 | 26 | NM_001987 | chr12:11905424 | AF:0.08; DP:319 | PEDIATRIC | M | HEME | ALL | v4 | 6 |
2018 | 895 | SV | ZRSR2 | likely | point | R448_R449insSR | 448 | NM_005089 | chrX:15841259 | AF:0.48; DP:188 | PEDIATRIC | M | HEME | ALL | v4 | 6 |
2019 | 895 | SV | IL7R | likely | point | L242_L243>CP | 242 | NM_002185 | chr5:35874569 | AF:0.18; DP:252 | PEDIATRIC | M | HEME | ALL | v4 | 6 |
2020 | 896 | CN | CDK4 | likely | amplification | amplification | NM_000075 | chr12:58144493.0 | CN:55 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 5 | |
2021 | 896 | CN | MDM2 | likely | amplification | amplification | NM_002392 | chr12:69218176.0 | CN:46 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 5 | |
2022 | 897 | SV | DICER1 | likely | point | E1813D | 1813 | NM_030621 | chr14:95557628 | AF:0.59; DP:889 | PEDIATRIC | F | GONADAL TUMORS | Ovarian/Testis | v5 | 13 |
2023 | 897 | SV | TP53 | likely | point | R273C | 273 | NM_000546 | chr17:7577121 | AF:0.8; DP:489 | PEDIATRIC | F | GONADAL TUMORS | Ovarian/Testis | v5 | 13 |
2024 | 898 | SV | ARID1A | likely | truncation | V161fs*66 | 161 | NM_006015 | chr1:27023375 | AF:0.45; DP:186 | PEDIATRIC | M | CARCINOMA | HCC | v5 | 16 |
2025 | 899 | CN | CDK4 | likely | amplification | amplification | NM_000075 | chr12:58144493.0 | CN:18 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 16 | |
2026 | 899 | CN | CCND3 | likely | amplification | amplification | NM_001136017 | chr6:41905052.0 | CN:8 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 16 | |
2027 | 899 | SV | TP53 | likely | truncation | splice site 376-1G>A | NM_000546 | chr17:7578555 | AF:0.56; DP:372 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 16 | |
2028 | 899 | SV | BCOR | likely | point | R1413H | 1413 | NM_017745 | chrX:39921480 | AF:0.38; DP:538 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 16 |
2029 | 900 | RE | SMARCB1 | likely | truncation | SMARCB1 truncation | none | chr22:24133959 | SR:98 | PEDIATRIC | M | BRAIN | Atypical Teratoid Rhaboid Tumor (ATRT) | v4 | 3 | |
2030 | 900 | SV | MAP3K7 | likely | point | N463S | 463 | NM_003188 | chr6:91229032 | AF:0.48; DP:526 | PEDIATRIC | M | BRAIN | Atypical Teratoid Rhaboid Tumor (ATRT) | v4 | 3 |
2031 | 901 | CN | C17orf39 | likely | amplification | amplification | NM_024052 | chr17:17959863.0 | CN:9 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 17 | |
2032 | 901 | CN | CD274 | likely | amplification | amplification | NM_014143 | chr9:5465552.0 | CN:8 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 17 | |
2033 | 901 | CN | KDM4C | likely | amplification | amplification | NM_001146696 | chr9:6990470.0 | CN:8 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 17 | |
2034 | 901 | SV | PTPRO | likely | truncation | V773fs*19 | 773 | NM_030667 | chr12:15702039 | AF:0.08; DP:892 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 17 |
2035 | 902 | SV | SETBP1 | likely | point | I871T | 871 | NM_015559 | chr18:42531917 | AF:0.38; DP:473 | PEDIATRIC | F | HEME | AML | v4 | 10 |
2036 | 902 | SV | PASK | likely | point | A602V | 602 | NM_015148 | chr2:242066525 | AF:0.45; DP:411 | PEDIATRIC | F | HEME | AML | v4 | 10 |
2037 | 902 | SV | NRAS | likely | point | G12D | 12 | NM_002524 | chr1:115258747 | AF:0.22; DP:343 | PEDIATRIC | F | HEME | AML | v4 | 10 |
2038 | 902 | SV | U2AF1 | likely | point | R35L | 35 | NM_006758 | chr21:44524453 | AF:0.32; DP:335 | PEDIATRIC | F | HEME | AML | v4 | 10 |
2039 | 902 | SV | U2AF1 | likely | point | S34F | 34 | NM_006758 | chr21:44524456 | AF:0.31; DP:335 | PEDIATRIC | F | HEME | AML | v4 | 10 |
2040 | 902 | SV | TET2 | likely | truncation | T1690fs*3 | 1690 | NM_001127208 | chr4:106196735 | AF:0.22; DP:544 | PEDIATRIC | F | HEME | AML | v4 | 10 |
2041 | 903 | CN | PTEN | likely | deletion | deletion | NM_000314 | chr10:89692889.0 | CN:0 | PEDIATRIC | F | SARCOMA | MPNST | v4 | 10 | |
2042 | 903 | CN | FAS | likely | deletion | deletion | NM_000043 | chr10:90770476.0 | CN:0 | PEDIATRIC | F | SARCOMA | MPNST | v4 | 10 | |
2043 | 905 | SV | CDKN2C | likely | truncation | H132fs*5 | 132 | NM_001262 | chr1:51439828 | AF:0.28; DP:544 | PEDIATRIC | F | BRAIN | Ependymoma | v5 | 10 |
2044 | 906 | SV | H3F3A | likely | point | K28M | 28 | NM_002107 | chr1:226252135 | AF:0.29; DP:370 | PEDIATRIC | M | BRAIN | Ganglioglioma | v5 | 8 |
2045 | 906 | SV | NF1 | likely | truncation | A2336fs*10 | 2336 | NM_001042492 | chr17:29667605 | AF:0.25; DP:580 | PEDIATRIC | M | BRAIN | Ganglioglioma | v5 | 8 |
2046 | 906 | SV | NF1 | likely | truncation | M1096fs*16 | 1096 | NM_001042492 | chr17:29559177 | AF:0.27; DP:432 | PEDIATRIC | M | BRAIN | Ganglioglioma | v5 | 8 |
2047 | 907 | CN | NFKBIA | likely | amplification | amplification | NM_020529 | chr14:35872220.0 | CN:8 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 14 | |
2048 | 907 | CN | CCNE1 | likely | amplification | amplification | NM_001238 | chr19:30312185.0 | CN:8 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 14 | |
2049 | 908 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:67 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 2 | |
2050 | 908 | SV | SUZ12 | likely | truncation | R535* | 535 | NM_015355 | chr17:30322590 | AF:0.77; DP:551 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 2 |
2051 | 909 | CN | SMARCB1 | likely | deletion | deletion | NM_003073 | chr22:24152283.0 | CN:0 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v4 | 14 | |
2052 | 910 | SV | PMS2 | likely | truncation | R563* | 563 | NM_000535 | chr7:6026709 | AF:0.87; DP:398 | PEDIATRIC | M | HEME | AML | v4 | 11 |
2053 | 910 | SV | NRAS | likely | point | Q61R | 61 | NM_002524 | chr1:115256529 | AF:0.47; DP:496 | PEDIATRIC | M | HEME | AML | v4 | 11 |
2054 | 910 | SV | NUP98 | likely | truncation | N1311fs*18 | 1311 | NM_016320 | chr11:3720395 | AF:0.33; DP:737 | PEDIATRIC | M | HEME | AML | v4 | 11 |
2055 | 910 | SV | ASXL1 | likely | truncation | G646fs*12 | 646 | NM_015338 | chr20:31022449 | AF:0.28; DP:557 | PEDIATRIC | M | HEME | AML | v4 | 11 |
2056 | 911 | RE | ABL1 | likely | rearrangement | ABL1-ETV6 fusion | none | chr9:133729527 | SR:74 | PEDIATRIC | M | HEME | ALL | v4 | 8 | |
2057 | 911 | RE | VHL | likely | truncation | VHL truncation | none | chr3:10188351 | SR:28 | PEDIATRIC | M | HEME | ALL | v4 | 8 | |
2058 | 911 | SV | NOTCH1 | likely | point | L1574P | 1574 | NM_017617 | chr9:139399422 | AF:0.1; DP:382 | PEDIATRIC | M | HEME | ALL | v4 | 8 |
2059 | 911 | SV | FBXW7 | likely | point | R465H | 465 | NM_033632 | chr4:153249384 | AF:0.07; DP:734 | PEDIATRIC | M | HEME | ALL | v4 | 8 |
2060 | 912 | SV | ARID1A | likely | point | R1223C | 1223 | NM_006015 | chr1:27099430 | AF:0.43; DP:480 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2061 | 912 | SV | BRCA2 | likely | truncation | I605fs*11 | 605 | NM_000059 | chr13:32907428 | AF:0.34; DP:559 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2062 | 912 | SV | ARID1B | likely | point | R1548C | 1548 | NM_017519 | chr6:157522409 | AF:0.23; DP:596 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2063 | 912 | SV | CTCF | likely | point | R275C | 275 | NM_001191022 | chr16:67663406 | AF:0.44; DP:452 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2064 | 912 | SV | DNMT3A | likely | point | R676W | 676 | NM_022552 | chr2:25464487 | AF:0.46; DP:448 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2065 | 912 | SV | EPHB1 | likely | truncation | E698* | 698 | NM_004441 | chr3:134911627 | AF:0.24; DP:565 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2066 | 912 | SV | FAM123B | likely | truncation | R631* | 631 | NM_152424 | chrX:63411276 | AF:0.13; DP:448 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2067 | 912 | SV | MAP3K1 | likely | point | R306H | 306 | NM_005921 | chr5:56160643 | AF:0.07; DP:629 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2068 | 912 | SV | MRE11A | likely | point | D20Y | 20 | NM_005590 | chr11:94224094 | AF:0.46; DP:485 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2069 | 912 | SV | MSH2 | likely | point | R406Q | 406 | NM_000251 | chr2:47657021 | AF:0.44; DP:583 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2070 | 912 | SV | PAX5 | likely | point | I301T | 301 | NM_016734 | chr9:36923360 | AF:0.53; DP:384 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2071 | 912 | SV | PDGFRA | likely | point | W349C | 349 | NM_006206 | chr4:55133834 | AF:0.12; DP:739 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2072 | 912 | SV | POLE | likely | point | L424I | 424 | NM_006231 | chr12:133250250 | AF:0.44; DP:395 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2073 | 912 | SV | PPP2R1A | likely | point | R418W | 418 | NM_014225 | chr19:52723067 | AF:0.54; DP:270 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2074 | 912 | SV | PRKCI | likely | point | R480C | 480 | NM_002740 | chr3:170013719 | AF:0.48; DP:592 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2075 | 912 | SV | RET | likely | point | R873W | 873 | NM_020975 | chr10:43615538 | AF:0.38; DP:536 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2076 | 912 | SV | ROS1 | likely | point | S524P | 524 | NM_002944 | chr6:117710702 | AF:0.46; DP:570 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2077 | 912 | SV | SLIT2 | likely | point | P926L | 926 | NM_004787 | chr4:20568936 | AF:0.22; DP:577 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2078 | 912 | SV | TNKS2 | likely | truncation | R112* | 112 | NM_025235 | chr10:93572874 | AF:0.48; DP:648 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2079 | 912 | SV | TP53 | likely | point | R273C | 273 | NM_000546 | chr17:7577121 | AF:0.48; DP:692 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2080 | 912 | SV | TP53 | likely | point | P250L | 250 | NM_000546 | chr17:7577532 | AF:0.48; DP:491 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2081 | 912 | SV | ACVR1B | likely | truncation | R515* | 515 | NM_020328 | chr12:52387796 | AF:0.48; DP:396 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2082 | 912 | SV | ATM | likely | truncation | E376* | 376 | NM_000051 | chr11:108119720 | AF:0.12; DP:504 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2083 | 912 | SV | ATR | likely | truncation | R2606* | 2606 | NM_001184 | chr3:142168390 | AF:0.46; DP:540 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2084 | 912 | SV | ATRX | likely | truncation | R2407* | 2407 | NM_000489 | chrX:76764089 | AF:0.13; DP:399 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2085 | 912 | SV | ATRX | likely | truncation | L359fs*3 | 359 | NM_000489 | chrX:76939680 | AF:0.35; DP:567 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2086 | 912 | SV | BARD1 | likely | truncation | R406* | 406 | NM_000465 | chr2:215645382 | AF:0.12; DP:513 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2087 | 912 | SV | CHD2 | likely | truncation | splice site 3885+1G>A | NM_001271 | chr15:93540634 | AF:0.43; DP:458 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 | |
2088 | 912 | SV | CTCF | likely | truncation | T204fs*26 | 204 | NM_006565 | chr16:67645345 | AF:0.35; DP:643 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2089 | 912 | SV | KDM5C | likely | truncation | R198* | 198 | NM_004187 | chrX:53246390 | AF:0.44; DP:509 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2090 | 912 | SV | KDM6A | likely | truncation | Y1173* | 1173 | NM_021140 | chrX:44945195 | AF:0.24; DP:554 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2091 | 912 | SV | MSH6 | likely | truncation | R1035* | 1035 | NM_000179 | chr2:48028225 | AF:0.42; DP:682 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2092 | 912 | SV | NF1 | likely | truncation | E1192* | 1192 | NM_001042492 | chr17:29560097 | AF:0.22; DP:579 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2093 | 912 | SV | PBRM1 | likely | truncation | Y834* | 834 | NM_018313 | chr3:52643394 | AF:0.07; DP:599 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2094 | 912 | SV | RB1 | likely | truncation | V654fs*14 | 654 | NM_000321 | chr13:49030484 | AF:0.35; DP:422 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2095 | 912 | SV | SMARCA4 | likely | truncation | R1005* | 1005 | NM_003072 | chr19:11135046 | AF:0.46; DP:345 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2096 | 912 | SV | STAG2 | likely | truncation | F468fs*5 | 468 | NM_006603 | chrX:123191811 | AF:0.4; DP:523 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2097 | 912 | SV | TAF1 | likely | truncation | M665fs*13 | 665 | NM_138923 | chrX:70603859 | AF:0.36; DP:605 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2098 | 912 | SV | FANCI | likely | point | A579T | 579 | NM_001113378 | chr15:89828363 | AF:0.46; DP:614 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 13 |
2099 | 913 | RE | STAT6 | likely | rearrangement | STAT6-NAB2 fusion | none | chr12:57489299 | SR:133 | PEDIATRIC | M | SARCOMA | Soft tissue assorted | v4 | 17 | |
2100 | 913 | SV | PIK3CA | likely | point | E545K | 545 | NM_006218 | chr3:178936091 | AF:0.37; DP:396 | PEDIATRIC | M | SARCOMA | Soft tissue assorted | v4 | 17 |
2101 | 913 | SV | MAP3K6 | likely | truncation | R1254* | 1254 | NM_004672 | chr1:27682188 | AF:0.5; DP:482 | PEDIATRIC | M | SARCOMA | Soft tissue assorted | v4 | 17 |
2102 | 914 | CN | RB1 | likely | deletion | deletion | NM_000321 | chr13:48953758.0 | CN:0 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 9 | |
2103 | 914 | CN | C17orf39 | likely | amplification | amplification | NM_024052 | chr17:17959863.0 | CN:6 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 9 | |
2104 | 914 | CN | MCL1 | likely | amplification | amplification | NM_182763 | chr1:150550843.0 | CN:8 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 9 | |
2105 | 914 | CN | JUN | likely | amplification | amplification | NM_002228 | chr1:59248244.0 | CN:8 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 9 | |
2106 | 914 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:7 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 9 | |
2107 | 914 | RE | TP53 | likely | truncation | TP53 truncation | none | chr17:7590736 | SR:224 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 9 | |
2108 | 914 | SV | NOTCH4 | likely | truncation | C249* | 249 | NM_004557 | chr6:32188807 | AF:0.26; DP:600 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 9 |
2109 | 915 | RE | EWSR1 | likely | rearrangement | EWSR1-WT1 fusion | none | chr22:29683050 | SR:1265 | PEDIATRIC | M | SARCOMA | DSRC | v4 | 18 | |
2110 | 915 | SV | ZRSR2 | likely | point | R448_R449insSR | 448 | NM_005089 | chrX:15841259 | AF:0.46; DP:301 | PEDIATRIC | M | SARCOMA | DSRC | v4 | 18 |
2111 | 915 | SV | TP53 | likely | point | R248W | 248 | NM_000546 | chr17:7577539 | AF:0.86; DP:336 | PEDIATRIC | M | SARCOMA | DSRC | v4 | 18 |
2112 | 916 | RE | EWSR1 | likely | rearrangement | EWSR1-FLI1 fusion | none | chr22:29684958 | SR:122 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 3 | |
2113 | 916 | RE | TSC1 | likely | truncation | TSC1 truncation | none | chr9:135796738 | SR:17 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 3 | |
2114 | 916 | SV | LRP1B | likely | point | V3125I | 3125 | NM_018557 | chr2:141242964 | AF:0.32; DP:646 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 3 |
2115 | 917 | CN | HGF | likely | amplification | amplification | NM_000601 | chr7:81355269.0 | CN:9 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 4 | |
2116 | 917 | CN | CDK6 | likely | amplification | amplification | NM_001259 | chr7:92300794.0 | CN:9 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 4 | |
2117 | 917 | SV | ARID1A | likely | truncation | Y471* | 471 | NM_006015 | chr1:27057705 | AF:0.42; DP:554 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 4 |
2118 | 918 | CN | CDK4 | likely | amplification | amplification | NM_000075 | chr12:58144493.0 | CN:49 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 | |
2119 | 918 | CN | IGF1R | likely | amplification | amplification | NM_000875 | chr15:99465518.0 | CN:17 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 | |
2120 | 918 | CN | MCL1 | likely | amplification | amplification | NM_182763 | chr1:150550843.0 | CN:11 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 | |
2121 | 918 | CN | PDGFRA | likely | amplification | amplification | NM_006206 | chr4:55139897.0 | CN:19 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 | |
2122 | 918 | CN | KIT | likely | amplification | amplification | NM_000222 | chr4:55593645.0 | CN:9 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 | |
2123 | 918 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:178 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 | |
2124 | 918 | RE | STAT6 | likely | rearrangement | STAT6-HLTF rearrangement | none | chr12:57492339 | SR:21 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 15 | |
2125 | 920 | CN | SH2B3 | likely | deletion | deletion | NM_005475 | chr12:111884976.0 | CN:0 | PEDIATRIC | F | HEME | ALL | v4 | 13 | |
2126 | 920 | SV | APC | likely | point | I1307K | 1307 | NM_000038 | chr5:112175211 | AF:0.46; DP:484 | PEDIATRIC | F | HEME | ALL | v4 | 13 |
2127 | 920 | SV | IL7R | likely | point | D239_P240>GLPCLDP | 239 | NM_002185 | chr5:35874559 | AF:0.4; DP:482 | PEDIATRIC | F | HEME | ALL | v4 | 13 |
2128 | 920 | SV | MLL2 | likely | truncation | L951fs*8 | 951 | NM_003482 | chr12:49444522 | AF:0.39; DP:518 | PEDIATRIC | F | HEME | ALL | v4 | 13 |
2129 | 921 | SV | APC | likely | point | I1307K | 1307 | NM_000038 | chr5:112175211 | AF:0.51; DP:574 | PEDIATRIC | M | HEME | MLL | v4 | 17 |
2130 | 921 | SV | TCF3 | likely | point | A8V | 8 | NM_003200 | chr19:1650225 | AF:0.5; DP:575 | PEDIATRIC | M | HEME | MLL | v4 | 17 |
2131 | 922 | SV | APC | likely | point | I2541V | 2541 | NM_000038 | chr5:112178912 | AF:0.49; DP:594 | PEDIATRIC | M | BRAIN | PNET | v4 | 2 |
2132 | 923 | SV | FGFR1 | likely | point | N546K | 546 | NM_023110 | chr8:38274849 | AF:0.37; DP:427 | PEDIATRIC | F | BRAIN | Glioma | v5 | 10 |
2133 | 923 | SV | NF1 | likely | truncation | W2317* | 2317 | NM_001042492 | chr17:29667552 | AF:0.45; DP:372 | PEDIATRIC | F | BRAIN | Glioma | v5 | 10 |
2134 | 923 | SV | H3F3A | likely | point | K28M | 28 | NM_002107 | chr1:226252135 | AF:0.42; DP:247 | PEDIATRIC | F | BRAIN | Glioma | v5 | 10 |
2135 | 923 | SV | NF1 | likely | truncation | E1436fs*4 | 1436 | NM_001042492 | chr17:29585493 | AF:0.4; DP:321 | PEDIATRIC | F | BRAIN | Glioma | v5 | 10 |
2136 | 924 | CN | SMARCB1 | likely | deletion | deletion | NM_003073 | chr22:24152283.0 | CN:0 | PEDIATRIC | M | BRAIN | Atypical Teratoid Rhaboid Tumor (ATRT) | v4 | 9 | |
2137 | 925 | RE | EWSR1 | likely | rearrangement | EWSR1-FLI1 fusion | none | chr22:29683061 | SR:482 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 4 | |
2138 | 925 | RE | EWSR1 | likely | rearrangement | EWSR1-TMEM136 rearrangement | none | chr22:29684565 | SR:68 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 4 | |
2139 | 925 | SV | TBX3 | likely | truncation | R256* | 256 | NM_016569 | chr12:115117408 | AF:0.15; DP:446 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 4 |
2140 | 925 | SV | STAG2 | likely | truncation | Q914* | 914 | NM_006603 | chrX:123211873 | AF:0.92; DP:220 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 4 |
2141 | 925 | SV | RET | likely | point | V804M | 804 | NM_020975 | chr10:43614996 | AF:0.49; DP:255 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 4 |
2142 | 928 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | CARCINOMA | Neuroendocrine | v5 | 13 | |
2143 | 928 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | CARCINOMA | Neuroendocrine | v5 | 13 | |
2144 | 928 | SV | PTEN | likely | truncation | splice site 164+1G>A | NM_000314 | chr10:89653867 | AF:0.36; DP:315 | PEDIATRIC | M | CARCINOMA | Neuroendocrine | v5 | 13 | |
2145 | 928 | SV | TP53 | likely | truncation | R196* | 196 | NM_000546 | chr17:7578263 | AF:0.55; DP:716 | PEDIATRIC | M | CARCINOMA | Neuroendocrine | v5 | 13 |
2146 | 929 | CN | ATRX | likely | deletion | deletion | NM_000489 | chrX:76889127.0 | CN:0 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 5 | |
2147 | 930 | SV | ALK | likely | point | F1245I | 1245 | NM_004304 | chr2:29436860 | AF:0.61; DP:943 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 0 |
2148 | 931 | CN | TSC1 | likely | deletion | deletion | NM_000368 | chr9:135782722.0 | CN:0 | PEDIATRIC | F | BRAIN | Medulloblastoma | v5 | 4 | |
2149 | 931 | SV | IGF2R | likely | point | R226W | 226 | NM_000876 | chr6:160448246 | AF:0.5; DP:378 | PEDIATRIC | F | BRAIN | Medulloblastoma | v5 | 4 |
2150 | 934 | RE | MLL | likely | rearrangement | MLL-MLL duplication | none | chr11:118354963 | SR:7 | PEDIATRIC | M | HEME | MLL | v4 | 0 | |
2151 | 936 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:18 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 3 | |
2152 | 936 | RE | EZH2 | likely | rearrangement | EZH2-EZH2 duplication | none | chr7:148506280 | SR:28 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 3 | |
2153 | 936 | SV | TP53 | likely | point | R175H | 175 | NM_000546 | chr17:7578406 | AF:0.18; DP:489 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 3 |
2154 | 936 | SV | NF1 | likely | truncation | C167fs*10 | 167 | NM_001042492 | chr17:29496927 | AF:0.21; DP:385 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 3 |
2155 | 937 | SV | NF1 | likely | truncation | E1787fs*7 | 1787 | NM_001042492 | chr17:29654606 | AF:0.3; DP:749 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 16 |
2156 | 937 | SV | NF1 | likely | truncation | L2290fs*17 | 2290 | NM_001042492 | chr17:29665769 | AF:0.46; DP:623 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 16 |
2157 | 938 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | HEME | ALL | v4 | 12 | |
2158 | 938 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | HEME | ALL | v4 | 12 | |
2159 | 938 | SV | WT1 | likely | truncation | splice site 1249+1G>T | NM_024426 | chr11:32417802 | AF:0.31; DP:249 | PEDIATRIC | M | HEME | ALL | v4 | 12 | |
2160 | 938 | SV | NOTCH1 | likely | point | F1693S | 1693 | NM_017617 | chr9:139397723 | AF:0.23; DP:330 | PEDIATRIC | M | HEME | ALL | v4 | 12 |
2161 | 938 | SV | FBXW7 | likely | point | R689W | 689 | NM_033632 | chr4:153244092 | AF:0.54; DP:409 | PEDIATRIC | M | HEME | ALL | v4 | 12 |
2162 | 938 | SV | NRAS | likely | point | T58I | 58 | NM_002524 | chr1:115256538 | AF:0.26; DP:370 | PEDIATRIC | M | HEME | ALL | v4 | 12 |
2163 | 938 | SV | CHEK2 | likely | truncation | T367fs*15 | 367 | NM_007194 | chr22:29091856 | AF:0.3; DP:193 | PEDIATRIC | M | HEME | ALL | v4 | 12 |
2164 | 939 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:20 | PEDIATRIC | F | HEME | Lymphoma | v4 | 17 | |
2165 | 939 | RE | IGH | likely | rearrangement | IGH-FOXP1 fusion | none | chr14:106328783 | SR:162 | PEDIATRIC | F | HEME | Lymphoma | v4 | 17 | |
2166 | 939 | SV | PIK3CG | likely | point | R477H | 477 | NM_002649 | chr7:106509436 | AF:0.5; DP:570 | PEDIATRIC | F | HEME | Lymphoma | v4 | 17 |
2167 | 939 | SV | TP53 | likely | truncation | L204* | 204 | NM_001126117 | chr17:7576571 | AF:0.37; DP:364 | PEDIATRIC | F | HEME | Lymphoma | v4 | 17 |
2168 | 939 | SV | IKZF3 | likely | truncation | splice site 592+1_592+4delGTAA | NM_012481 | chr17:37947664 | AF:0.35; DP:307 | PEDIATRIC | F | HEME | Lymphoma | v4 | 17 | |
2169 | 939 | SV | TNFRSF14 | likely | truncation | splice site 69+2T>G | NM_003820 | chr1:2488174 | AF:0.82; DP:256 | PEDIATRIC | F | HEME | Lymphoma | v4 | 17 | |
2170 | 939 | SV | ID3 | likely | truncation | splice site 263_300+53del91 | NM_002167 | chr1:23885564 | AF:0.86; DP:411 | PEDIATRIC | F | HEME | Lymphoma | v4 | 17 | |
2171 | 939 | SV | TP53 | likely | point | V173G | 173 | NM_000546 | chr17:7578412 | AF:0.4; DP:452 | PEDIATRIC | F | HEME | Lymphoma | v4 | 17 |
2172 | 939 | SV | TRAF3 | likely | truncation | R310* | 310 | NM_003300 | chr14:103363706 | AF:0.7; DP:204 | PEDIATRIC | F | HEME | Lymphoma | v4 | 17 |
2173 | 940 | RE | MLL | likely | rearrangement | MLL-MLL duplication | none | chr11:118339523 | SR:100 | PEDIATRIC | F | HEME | MDS and/or MPN | v4 | 16 | |
2174 | 940 | SV | DNMT3A | likely | point | R882C | 882 | NM_022552 | chr2:25457243 | AF:0.47; DP:433 | PEDIATRIC | F | HEME | MDS and/or MPN | v4 | 16 |
2175 | 940 | SV | RUNX1 | likely | truncation | G393fs*86+ | 393 | NM_001754 | chr21:36164687 | AF:0.47; DP:437 | PEDIATRIC | F | HEME | MDS and/or MPN | v4 | 16 |
2176 | 941 | SV | SLIT2 | likely | point | D1445H | 1445 | NM_004787 | chr4:20619258 | AF:0.47; DP:481 | PEDIATRIC | F | BRAIN | Glioma | v5 | 13 |
2177 | 942 | SV | SPEN | likely | point | P2516L | 2516 | NM_015001 | chr1:16260282 | AF:0.49; DP:435 | PEDIATRIC | M | BRAIN | Meningioma | v5 | 18 |
2178 | 943 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:16 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 1 | |
2179 | 944 | RE | BRAF | likely | rearrangement | BRAF-KIAA1549 fusion | none | chr7:140492904 | SR:90 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 1 | |
2180 | 944 | SV | BRCA1 | likely | truncation | Q1756fs*74 | 1756 | NM_007294 | chr17:41209082 | AF:0.47; DP:587 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 1 |
2181 | 945 | CN | CCNE1 | likely | amplification | amplification | NM_001238 | chr19:30312185.0 | CN:8 | PEDIATRIC | M | CARCINOMA | Adrenal | v5 | 9 | |
2182 | 945 | SV | TP53 | likely | point | P152L | 152 | NM_000546 | chr17:7578475 | AF:0.72; DP:401 | PEDIATRIC | M | CARCINOMA | Adrenal | v5 | 9 |
2183 | 945 | SV | CTNNB1 | likely | point | D32N | 32 | NM_001904 | chr3:41266097 | AF:0.43; DP:613 | PEDIATRIC | M | CARCINOMA | Adrenal | v5 | 9 |
2184 | 946 | SV | KRAS | likely | point | G12V | 12 | NM_004985 | chr12:25398284 | AF:0.45; DP:701 | PEDIATRIC | F | CARCINOMA | Gyn carcinoma | v5 | 16 |
2185 | 947 | RE | ALK | likely | rearrangement | ALK-EML4 fusion | none | chr2:29446634 | SR:113 | PEDIATRIC | M | BRAIN | Ganglioglioma | v5 | 0 | |
2186 | 948 | SV | HIST1H3B | likely | point | K28M | 28 | NM_003537 | chr6:26032206 | AF:0.15; DP:1132 | PEDIATRIC | M | HEME | Lymphoma | v4 | 12 |
2187 | 948 | SV | CD36 | likely | truncation | N53fs*24 | 53 | NM_000072 | chr7:80285892 | AF:0.12; DP:1828 | PEDIATRIC | M | HEME | Lymphoma | v4 | 12 |
2188 | 948 | SV | KRAS | likely | point | G12C | 12 | NM_004985 | chr12:25398285 | AF:0.13; DP:1403 | PEDIATRIC | M | HEME | Lymphoma | v4 | 12 |
2189 | 949 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 17 | |
2190 | 949 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 17 | |
2191 | 949 | RE | NF1 | likely | truncation | NF1 truncation | none | chr17:29584373 | SR:71 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 17 | |
2192 | 949 | SV | H3F3A | likely | point | K28M | 28 | NM_002107 | chr1:226252135 | AF:0.42; DP:439 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 17 |
2193 | 949 | SV | EGFR | likely | point | P596L | 596 | NM_005228 | chr7:55233037 | AF:0.02; DP:795 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 17 |
2194 | 949 | SV | NF1 | likely | truncation | Y2285fs*5 | 2285 | NM_001042492 | chr17:29665753 | AF:0.41; DP:598 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 17 |
2195 | 949 | SV | PIK3CA | likely | point | Q546H | 546 | NM_006218 | chr3:178936096 | AF:0.34; DP:620 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 17 |
2196 | 949 | SV | PIK3CA | likely | point | T1025A | 1025 | NM_006218 | chr3:178952018 | AF:0.32; DP:953 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 17 |
2197 | 949 | SV | PTPN11 | likely | point | A72T | 72 | NM_002834 | chr12:112888198 | AF:0.37; DP:635 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 17 |
2198 | 950 | SV | DICER1 | likely | point | E1813D | 1813 | NM_030621 | chr14:95557628 | AF:0.5; DP:726 | PEDIATRIC | F | SARCOMA | RMS | v5 | 8 |
2199 | 950 | SV | TP53 | likely | point | R213Q | 213 | NM_000546 | chr17:7578211 | AF:0.33; DP:485 | PEDIATRIC | F | SARCOMA | RMS | v5 | 8 |
2200 | 951 | CN | PDGFRA | likely | amplification | amplification | NM_006206 | chr4:55139897.0 | CN:38 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 9 | |
2201 | 951 | CN | KIT | likely | amplification | amplification | NM_000222 | chr4:55593645.0 | CN:34 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 9 | |
2202 | 951 | CN | KDR | likely | amplification | amplification | NM_002253 | chr4:55966522.0 | CN:33 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 9 | |
2203 | 951 | CN | MET | likely | amplification | amplification | NM_000245 | chr7:116406510.0 | CN:11 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 9 | |
2204 | 951 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 9 | |
2205 | 951 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 9 | |
2206 | 951 | RE | TP53 | likely | rearrangement | TP53-DNAH9 rearrangement | none | chr17:7589327 | SR:17 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 9 | |
2207 | 951 | SV | CDH20 | likely | point | R554Q | 554 | NM_031891 | chr18:59217223 | AF:0.49; DP:625 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 9 |
2208 | 952 | CN | PDGFRA | likely | amplification | amplification | NM_006206 | chr4:55139897.0 | CN:6 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 10 | |
2209 | 952 | CN | KIT | likely | amplification | amplification | NM_000222 | chr4:55593645.0 | CN:6 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 10 | |
2210 | 952 | CN | MET | likely | amplification | amplification | NM_000245 | chr7:116406510.0 | CN:14 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 10 | |
2211 | 952 | SV | TP53 | likely | truncation | R213* | 213 | NM_000546 | chr17:7578212 | AF:0.77; DP:542 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 10 |
2212 | 952 | SV | H3F3A | likely | point | K28M | 28 | NM_002107 | chr1:226252135 | AF:0.53; DP:392 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 10 |
2213 | 953 | SV | FGFR1 | likely | point | K656E | 656 | NM_023110 | chr8:38272308 | AF:0.41; DP:1203 | PEDIATRIC | F | BRAIN | Glioma | v5 | 18 |
2214 | 954 | CN | HGF | likely | amplification | amplification | NM_000601 | chr7:81355269.0 | CN:7 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 13 | |
2215 | 954 | CN | CDK6 | likely | amplification | amplification | NM_001259 | chr7:92300794.0 | CN:7 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 13 | |
2216 | 954 | SV | BRAF | likely | point | V600E | 600 | NM_004333 | chr7:140453136 | AF:0.2; DP:688 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 13 |
2217 | 954 | SV | PIK3C2B | likely | point | R347Q | 347 | NM_002646 | chr1:204433727 | AF:0.44; DP:360 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 13 |
2218 | 955 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 14 | |
2219 | 955 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 14 | |
2220 | 955 | RE | EWSR1 | likely | rearrangement | EWSR1-FLI1 fusion | none | chr22:29684459 | SR:45 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 14 | |
2221 | 956 | RE | ETV6 | likely | rearrangement | ETV6-RUNX1 fusion | none | chr12:12022630 | SR:570 | PEDIATRIC | F | HEME | ALL | v4 | 4 | |
2222 | 958 | SV | LRP1B | likely | point | A1912V | 1912 | NM_018557 | chr2:141526805 | AF:0.49; DP:411 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 6 |
2223 | 958 | SV | LZTR1 | likely | truncation | F258fs*93 | 258 | NM_006767 | chr22:21344796 | AF:0.54; DP:467 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 6 |
2224 | 959 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | BRAIN | Glioma | v5 | 18 | |
2225 | 959 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | BRAIN | Glioma | v5 | 18 | |
2226 | 959 | SV | ATRX | likely | truncation | L563* | 563 | NM_000489 | chrX:76939060 | AF:0.38; DP:1031 | PEDIATRIC | F | BRAIN | Glioma | v5 | 18 |
2227 | 959 | SV | NF1 | likely | truncation | L828* | 828 | NM_001042492 | chr17:29556116 | AF:0.63; DP:374 | PEDIATRIC | F | BRAIN | Glioma | v5 | 18 |
2228 | 959 | SV | PTEN | likely | truncation | splice site 254-1G>T | NM_000314 | chr10:89692769 | AF:0.68; DP:668 | PEDIATRIC | F | BRAIN | Glioma | v5 | 18 | |
2229 | 959 | SV | TP53 | likely | point | R248W | 248 | NM_000546 | chr17:7577539 | AF:0.6; DP:916 | PEDIATRIC | F | BRAIN | Glioma | v5 | 18 |
2230 | 959 | SV | H3F3A | likely | point | K28M | 28 | NM_002107 | chr1:226252135 | AF:0.36; DP:457 | PEDIATRIC | F | BRAIN | Glioma | v5 | 18 |
2231 | 959 | SV | TP53 | likely | point | G244D | 244 | NM_000546 | chr17:7577550 | AF:0.3; DP:856 | PEDIATRIC | F | BRAIN | Glioma | v5 | 18 |
2232 | 960 | SV | ARAF | likely | point | R188H | 188 | NM_001654 | chrX:47426043 | AF:0.39; DP:391 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2233 | 960 | SV | ATR | likely | point | R1082H | 1082 | NM_001184 | chr3:142266679 | AF:0.44; DP:675 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2234 | 960 | SV | ARID1B | likely | point | R1553C | 1553 | NM_017519 | chr6:157522424 | AF:0.25; DP:837 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2235 | 960 | SV | AXIN1 | likely | point | A615T | 615 | NM_003502 | chr16:347168 | AF:0.25; DP:442 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2236 | 960 | SV | BCOR | likely | truncation | R1513* | 1513 | NM_017745 | chrX:39914723 | AF:0.45; DP:526 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2237 | 960 | SV | CARD11 | likely | point | R423W | 423 | NM_032415 | chr7:2976745 | AF:0.42; DP:474 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2238 | 960 | SV | CBL | likely | point | K389N | 389 | NM_005188 | chr11:119148947 | AF:0.86; DP:312 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2239 | 960 | SV | CDC73 | likely | point | R139Q | 139 | NM_024529 | chr1:193104712 | AF:0.44; DP:578 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2240 | 960 | SV | CDH2 | likely | point | T590M | 590 | NM_001792 | chr18:25565698 | AF:0.19; DP:673 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2241 | 960 | SV | CDH20 | likely | point | T29M | 29 | NM_031891 | chr18:59157872 | AF:0.46; DP:924 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2242 | 960 | SV | CDKN2A | likely | point | R131C | 131 | NM_000077 | chr9:21970967 | AF:0.23; DP:506 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2243 | 960 | SV | DDR2 | likely | point | R478H | 478 | NM_006182 | chr1:162740231 | AF:0.45; DP:795 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2244 | 960 | SV | DNMT3A | likely | point | R882C | 882 | NM_022552 | chr2:25457243 | AF:0.47; DP:610 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2245 | 960 | SV | DNMT3A | likely | point | A741V | 741 | NM_022552 | chr2:25463271 | AF:0.06; DP:665 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2246 | 960 | SV | ERBB4 | likely | point | Y268C | 268 | NM_005235 | chr2:212587198 | AF:0.44; DP:741 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2247 | 960 | SV | FAM123B | likely | point | R857Q | 857 | NM_152424 | chrX:63410597 | AF:0.07; DP:664 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2248 | 960 | SV | GRIN2A | likely | point | G889E | 889 | NM_000833 | chr16:9858735 | AF:0.23; DP:746 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2249 | 960 | SV | GRM3 | likely | point | R644C | 644 | NM_000840 | chr7:86468760 | AF:0.44; DP:1032 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2250 | 960 | SV | KIT | likely | point | G498D | 498 | NM_000222 | chr4:55592169 | AF:0.2; DP:982 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2251 | 960 | SV | LRP1B | likely | point | R1619H | 1619 | NM_018557 | chr2:141607754 | AF:0.46; DP:879 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2252 | 960 | SV | MLL3 | likely | truncation | R2609* | 2609 | NM_170606 | chr7:151874713 | AF:0.45; DP:914 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2253 | 960 | SV | MLL3 | likely | point | R380C | 380 | NM_170606 | chr7:151962169 | AF:0.08; DP:375 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2254 | 960 | SV | NTRK1 | likely | point | S402I | 402 | NM_002529 | chr1:156844372 | AF:0.47; DP:762 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2255 | 960 | SV | PDGFRB | likely | point | A366T | 366 | NM_002609 | chr5:149512344 | AF:0.45; DP:512 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2256 | 960 | SV | PMS2 | likely | truncation | R421* | 421 | NM_000535 | chr7:6027135 | AF:0.2; DP:545 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2257 | 960 | SV | POLE | likely | point | V411L | 411 | NM_006231 | chr12:133250289 | AF:0.29; DP:411 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2258 | 960 | SV | PRKDC | likely | point | R1136H | 1136 | NM_006904 | chr8:48811087 | AF:0.47; DP:652 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2259 | 960 | SV | PTEN | likely | point | R335Q | 335 | NM_000314 | chr10:89720853 | AF:0.44; DP:239 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2260 | 960 | SV | RAD50 | likely | point | R385H | 385 | NM_005732 | chr5:131924481 | AF:0.43; DP:749 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2261 | 960 | SV | SDHA | likely | point | Q176H | 176 | NM_004168 | chr5:226069 | AF:0.25; DP:460 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2262 | 960 | SV | SETD2 | likely | point | D1388Y | 1388 | NM_014159 | chr3:47161964 | AF:0.21; DP:796 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2263 | 960 | SV | SETD2 | likely | point | P668L | 668 | NM_014159 | chr3:47164123 | AF:0.2; DP:705 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2264 | 960 | SV | TP53 | likely | point | R282W | 282 | NM_000546 | chr17:7577094 | AF:0.46; DP:885 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2265 | 960 | SV | TP53 | likely | point | R273C | 273 | NM_000546 | chr17:7577121 | AF:0.48; DP:887 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2266 | 960 | SV | ACVR1B | likely | truncation | splice site 91+1G>A | NM_020328 | chr12:52345619 | AF:0.2; DP:204 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 | |
2267 | 960 | SV | ARID2 | likely | truncation | C180* | 180 | NM_152641 | chr12:46211574 | AF:0.21; DP:788 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2268 | 960 | SV | ATM | likely | truncation | R457* | 457 | NM_000051 | chr11:108121561 | AF:0.45; DP:992 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2269 | 960 | SV | ATM | likely | truncation | R1618* | 1618 | NM_000051 | chr11:108165729 | AF:0.46; DP:811 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2270 | 960 | SV | ATR | likely | truncation | G2403* | 2403 | NM_001184 | chr3:142178211 | AF:0.25; DP:589 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2271 | 960 | SV | ATRX | likely | truncation | N867fs*2 | 867 | NM_000489 | chrX:76938151 | AF:0.41; DP:872 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2272 | 960 | SV | BCORL1 | likely | truncation | R1266* | 1266 | NM_021946 | chrX:129159072 | AF:0.51; DP:674 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2273 | 960 | SV | BCORL1 | likely | truncation | splice site 4079-1G>A | NM_021946 | chrX:129162609 | AF:0.49; DP:578 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 | |
2274 | 960 | SV | BRIP1 | likely | truncation | splice site 918+1G>A | NM_032043 | chr17:59885827 | AF:0.23; DP:642 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 | |
2275 | 960 | SV | CHUK | likely | truncation | Q226* | 226 | NM_001278 | chr10:101978778 | AF:0.19; DP:695 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2276 | 960 | SV | CREBBP | likely | truncation | Q517* | 517 | NM_004380 | chr16:3832709 | AF:0.24; DP:736 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2277 | 960 | SV | EGFR | likely | truncation | R1068* | 1068 | NM_005228 | chr7:55270249 | AF:0.44; DP:675 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2278 | 960 | SV | EZH2 | likely | truncation | splice site 1852-1G>A | NM_004456 | chr7:148508813 | AF:0.42; DP:570 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 | |
2279 | 960 | SV | FAT1 | likely | truncation | R3665* | 3665 | NM_005245 | chr4:187524687 | AF:0.25; DP:1085 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2280 | 960 | SV | FGFR3 | likely | point | R248H | 248 | NM_000142 | chr4:1803565 | AF:0.48; DP:382 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2281 | 960 | SV | FLCN | likely | truncation | splice site 250-1G>A | NM_144997 | chr17:17129637 | AF:0.22; DP:508 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 | |
2282 | 960 | SV | FUBP1 | likely | truncation | E253* | 253 | NM_003902 | chr1:78430411 | AF:0.45; DP:858 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2283 | 960 | SV | KDM6A | likely | truncation | W1239* | 1239 | NM_021140 | chrX:44949156 | AF:0.22; DP:700 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2284 | 960 | SV | KEAP1 | likely | truncation | splice site 1532-1G>T | NM_012289 | chr19:10600045 | AF:0.23; DP:394 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 | |
2285 | 960 | SV | MSH6 | likely | truncation | R248fs*8 | 248 | NM_000179 | chr2:48025863 | AF:0.21; DP:879 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2286 | 960 | SV | NCOR1 | likely | truncation | R2422* | 2422 | NM_006311 | chr17:15935669 | AF:0.49; DP:745 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2287 | 960 | SV | NF1 | likely | truncation | Q452* | 452 | NM_001042492 | chr17:29533351 | AF:0.44; DP:758 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2288 | 960 | SV | NF1 | likely | truncation | splice site 7321+2T>C | NM_001042492 | chr17:29676271 | AF:0.45; DP:573 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 | |
2289 | 960 | SV | PARK2 | likely | truncation | W462* | 462 | NM_004562 | chr6:161771143 | AF:0.07; DP:700 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2290 | 960 | SV | PAX5 | likely | truncation | splice site 1012+1G>A | NM_016734 | chr9:36882000 | AF:0.2; DP:475 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 | |
2291 | 960 | SV | PIK3R2 | likely | truncation | splice site 815+1G>A | NM_005027 | chr19:18272306 | AF:0.22; DP:107 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 | |
2292 | 960 | SV | RAD51C | likely | truncation | splice site 145+1G>A | NM_058216 | chr17:56770150 | AF:0.24; DP:343 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 | |
2293 | 960 | SV | RUNX1 | likely | truncation | W279* | 279 | NM_001754 | chr21:36171728 | AF:0.09; DP:697 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2294 | 960 | SV | SETD2 | likely | truncation | P2455fs*11 | 2455 | NM_014159 | chr3:47061324 | AF:0.41; DP:650 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2295 | 960 | SV | SMARCA4 | likely | truncation | splice site 2616+1G>A | NM_003072 | chr19:11130378 | AF:0.22; DP:388 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 | |
2296 | 960 | SV | SMARCD1 | likely | truncation | Q317* | 317 | NM_003076 | chr12:50484099 | AF:0.22; DP:646 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2297 | 960 | SV | SPTA1 | likely | truncation | W2017* | 2017 | NM_003126 | chr1:158592842 | AF:0.45; DP:787 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2298 | 960 | SV | TET2 | likely | truncation | R1404* | 1404 | NM_001127208 | chr4:106193748 | AF:0.46; DP:793 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2299 | 961 | SV | TP53 | likely | point | R273H | 273 | NM_000546 | chr17:7577120 | AF:0.94; DP:406 | PEDIATRIC | M | SARCOMA | RMS | v4 | 1 |
2300 | 962 | CN | PTEN | likely | deletion | deletion | NM_000314 | chr10:89692889.0 | CN:0 | PEDIATRIC | M | HEME | Lymphoma | v4 | 16 | |
2301 | 962 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | HEME | Lymphoma | v4 | 16 | |
2302 | 962 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | HEME | Lymphoma | v4 | 16 | |
2303 | 962 | RE | TAL1 | likely | rearrangement | TAL1-STIL fusion | none | chr1:47694909 | SR:48 | PEDIATRIC | M | HEME | Lymphoma | v4 | 16 | |
2304 | 962 | SV | TLL2 | likely | truncation | K900fs*18 | 900 | NM_012465 | chr10:98130031 | AF:0.1; DP:426 | PEDIATRIC | M | HEME | Lymphoma | v4 | 16 |
2305 | 962 | SV | CXCR4 | likely | truncation | S352fs*11+ | 352 | NM_001008540 | chr2:136872458 | AF:0.33; DP:553 | PEDIATRIC | M | HEME | Lymphoma | v4 | 16 |
2306 | 963 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | HEME | AML | v4 | 14 | |
2307 | 963 | RE | TP53 | likely | truncation | TP53 truncation | none | chr17:7590739 | SR:724 | PEDIATRIC | M | HEME | AML | v4 | 14 | |
2308 | 963 | SV | PTPN11 | likely | point | E76V | 76 | NM_002834 | chr12:112888211 | AF:0.03; DP:533 | PEDIATRIC | M | HEME | AML | v4 | 14 |
2309 | 963 | SV | FLT3 | likely | point | D835Y | 835 | NM_004119 | chr13:28592642 | AF:0.42; DP:426 | PEDIATRIC | M | HEME | AML | v4 | 14 |
2310 | 963 | SV | TP53 | likely | point | R282W | 282 | NM_000546 | chr17:7577094 | AF:0.47; DP:673 | PEDIATRIC | M | HEME | AML | v4 | 14 |
2311 | 963 | SV | EP300 | likely | truncation | Q1784* | 1784 | NM_001429 | chr22:41573065 | AF:0.5; DP:558 | PEDIATRIC | M | HEME | AML | v4 | 14 |
2312 | 963 | SV | GATA2 | likely | point | R362G | 362 | NM_032638 | chr3:128200721 | AF:0.48; DP:514 | PEDIATRIC | M | HEME | AML | v4 | 14 |
2313 | 963 | SV | GATA2 | likely | truncation | R330* | 330 | NM_032638 | chr3:128202732 | AF:0.48; DP:523 | PEDIATRIC | M | HEME | AML | v4 | 14 |
2314 | 963 | SV | MLL2 | likely | truncation | A1296fs*29 | 1296 | NM_003482 | chr12:49443490 | AF:0.08; DP:433 | PEDIATRIC | M | HEME | AML | v4 | 14 |
2315 | 964 | SV | CTNNB1 | likely | point | T41A | 41 | NM_001904 | chr3:41266124 | AF:0.22; DP:255 | PEDIATRIC | M | SARCOMA | Fibromatosis | v4 | 13 |
2316 | 965 | CN | IKZF1 | likely | deletion | deletion | NM_006060 | chr7:50450321.0 | CN:0 | PEDIATRIC | F | HEME | ALL | v4 | 17 | |
2317 | 965 | RE | IGH | likely | rearrangement | IGH-N/A rearrangement | none | chr14:106361703 | SR:72 | PEDIATRIC | F | HEME | ALL | v4 | 17 | |
2318 | 965 | SV | IKZF1 | likely | truncation | P113fs*4 | 113 | NM_006060 | chr7:50444406 | AF:0.39; DP:368 | PEDIATRIC | F | HEME | ALL | v4 | 17 |
2319 | 965 | SV | CREBBP | likely | point | S1679del | 1679 | NM_004380 | chr16:3781328 | AF:0.35; DP:761 | PEDIATRIC | F | HEME | ALL | v4 | 17 |
2320 | 965 | SV | IKZF1 | likely | truncation | C122fs*72 | 122 | NM_006060 | chr7:50444433 | AF:0.09; DP:357 | PEDIATRIC | F | HEME | ALL | v4 | 17 |
2321 | 965 | SV | JAK2 | likely | point | F694L | 694 | NM_004972 | chr9:5078393 | AF:0.39; DP:554 | PEDIATRIC | F | HEME | ALL | v4 | 17 |
2322 | 966 | SV | NOTCH1 | likely | truncation | Q2416* | 2416 | NM_017617 | chr9:139390945 | AF:0.15; DP:589 | PEDIATRIC | F | HEME | Lymphoma | v4 | 14 |
2323 | 966 | SV | CCND3 | likely | truncation | Q179* | 179 | NM_001136017 | chr6:41903779 | AF:0.4; DP:612 | PEDIATRIC | F | HEME | Lymphoma | v4 | 14 |
2324 | 966 | SV | SMARCA4 | likely | truncation | splice site 2438+1G>A | NM_003072 | chr19:11123789 | AF:0.3; DP:483 | PEDIATRIC | F | HEME | Lymphoma | v4 | 14 | |
2325 | 966 | SV | TP63 | likely | point | A139T | 139 | NM_003722 | chr3:189526151 | AF:0.25; DP:762 | PEDIATRIC | F | HEME | Lymphoma | v4 | 14 |
2326 | 966 | SV | TP53 | likely | point | P152L | 152 | NM_000546 | chr17:7578475 | AF:0.3; DP:586 | PEDIATRIC | F | HEME | Lymphoma | v4 | 14 |
2327 | 966 | SV | TP53 | likely | point | R248Q | 248 | NM_000546 | chr17:7577538 | AF:0.25; DP:604 | PEDIATRIC | F | HEME | Lymphoma | v4 | 14 |
2328 | 966 | SV | TNFAIP3 | likely | truncation | R271* | 271 | NM_006290 | chr6:138198218 | AF:0.44; DP:487 | PEDIATRIC | F | HEME | Lymphoma | v4 | 14 |
2329 | 966 | SV | PIK3R1 | likely | point | N564D | 564 | NM_181523 | chr5:67591097 | AF:0.27; DP:698 | PEDIATRIC | F | HEME | Lymphoma | v4 | 14 |
2330 | 967 | RE | RUNX1 | likely | rearrangement | RUNX1-RUNX1T1 fusion | none | chr21:36231807 | SR:270 | PEDIATRIC | M | HEME | AML | v4 | 14 | |
2331 | 968 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:10 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 3 | |
2332 | 968 | SV | TP53 | likely | point | G245S | 245 | NM_000546 | chr17:7577548 | AF:0.96; DP:711 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 3 |
2333 | 968 | SV | EGFR | likely | point | N771_P772>SVDNP | 771 | NM_005228 | chr7:55249013 | AF:0.38; DP:514 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 3 |
2334 | 969 | RE | MLL | likely | rearrangement | MLL-MLL duplication | none | chr11:118352618 | SR:76 | PEDIATRIC | M | HEME | AML | v4 | 15 | |
2335 | 969 | SV | FLT3 | likely | point | E598_Y599insYDLKWEFR | 598 | NM_004119 | chr13:28608261 | AF:0.33; DP:664 | PEDIATRIC | M | HEME | AML | v4 | 15 |
2336 | 969 | SV | CD36 | likely | truncation | N53fs*24 | 53 | NM_000072 | chr7:80285892 | AF:0.53; DP:546 | PEDIATRIC | M | HEME | AML | v4 | 15 |
2337 | 969 | SV | CREBBP | likely | point | G1069S | 1069 | NM_004380 | chr16:3817766 | AF:0.49; DP:455 | PEDIATRIC | M | HEME | AML | v4 | 15 |
2338 | 969 | SV | RUNX1 | likely | truncation | A142fs*4 | 142 | NM_001754 | chr21:36252939 | AF:0.45; DP:524 | PEDIATRIC | M | HEME | AML | v4 | 15 |
2339 | 969 | SV | WT1 | likely | truncation | R380fs*5 | 380 | NM_024426 | chr11:32417915 | AF:0.46; DP:391 | PEDIATRIC | M | HEME | AML | v4 | 15 |
2340 | 969 | SV | ZRSR2 | likely | point | R448_R449insSR | 448 | NM_005089 | chrX:15841259 | AF:0.47; DP:231 | PEDIATRIC | M | HEME | AML | v4 | 15 |
2341 | 970 | SV | EPHA3 | likely | point | W250R | 250 | NM_005233 | chr3:89259604 | AF:0.48; DP:757 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 17 |
2342 | 970 | SV | TERT | likely | point | promoter -124C>T | NM_198253 | chr5:1295228 | AF:0.36; DP:39 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 17 | |
2343 | 970 | SV | IDH1 | likely | point | R132C | 132 | NM_005896 | chr2:209113113 | AF:0.42; DP:634 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 17 |
2344 | 970 | SV | LZTR1 | likely | truncation | L651fs*5 | 651 | NM_006767 | chr22:21350043 | AF:0.41; DP:537 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 17 |
2345 | 970 | SV | PTCH1 | likely | truncation | E1120* | 1120 | NM_000264 | chr9:98215851 | AF:0.41; DP:622 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 17 |
2346 | 970 | SV | PTCH1 | likely | truncation | Y93fs*1 | 93 | NM_000264 | chr9:98268805 | AF:0.4; DP:646 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 17 |
2347 | 970 | SV | PTPRD | likely | truncation | Q1811fs*46 | 1811 | NM_002839 | chr9:8331689 | AF:0.36; DP:626 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 17 |
2348 | 971 | SV | NF1 | likely | truncation | R192* | 192 | NM_001042492 | chr17:29497003 | AF:0.48; DP:444 | PEDIATRIC | M | HEME | ALL | v4 | 10 |
2349 | 972 | RE | NUP214 | likely | rearrangement | NUP214-SET fusion | none | chr9:134034821 | SR:2399 | PEDIATRIC | F | HEME | ALL | v4 | 15 | |
2350 | 972 | SV | FBXW7 | likely | point | R479Q | 479 | NM_033632 | chr4:153247366 | AF:0.28; DP:349 | PEDIATRIC | F | HEME | ALL | v4 | 15 |
2351 | 972 | SV | ARID1A | likely | point | Q1334_R1335insQ | 1334 | NM_006015 | chr1:27100205 | AF:0.25; DP:624 | PEDIATRIC | F | HEME | ALL | v4 | 15 |
2352 | 972 | SV | JAK1 | likely | point | S646F | 646 | NM_002227 | chr1:65312382 | AF:0.21; DP:491 | PEDIATRIC | F | HEME | ALL | v4 | 15 |
2353 | 972 | SV | JAK3 | likely | point | R657Q | 657 | NM_000215 | chr19:17945969 | AF:0.22; DP:433 | PEDIATRIC | F | HEME | ALL | v4 | 15 |
2354 | 972 | SV | TP53 | likely | point | G244D | 244 | NM_000546 | chr17:7577550 | AF:0.23; DP:543 | PEDIATRIC | F | HEME | ALL | v4 | 15 |
2355 | 972 | SV | NOTCH1 | likely | point | L1593_R1594insP | 1593 | NM_017617 | chr9:139399364 | AF:0.24; DP:497 | PEDIATRIC | F | HEME | ALL | v4 | 15 |
2356 | 972 | SV | TP53 | likely | truncation | splice site 97-1G>C | NM_000546 | chr17:7579591 | AF:0.24; DP:599 | PEDIATRIC | F | HEME | ALL | v4 | 15 | |
2357 | 973 | CN | MET | likely | amplification | amplification | NM_000245 | chr7:116406510.0 | CN:17 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 15 | |
2358 | 973 | CN | KDR | likely | amplification | amplification | NM_002253 | chr4:55966522.0 | CN:11 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 15 | |
2359 | 973 | CN | KIT | likely | amplification | amplification | NM_000222 | chr4:55593645.0 | CN:10 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 15 | |
2360 | 973 | CN | KDM5A | likely | amplification | amplification | NM_001042603 | chr12:435474.0 | CN:8 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 15 | |
2361 | 973 | CN | PDGFRA | likely | amplification | amplification | NM_006206 | chr4:55139897.0 | CN:10 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 15 | |
2362 | 973 | RE | LRP1B | likely | truncation | LRP1B deletion | none | chr2:141201918 | SR:23 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 15 | |
2363 | 973 | SV | TP53 | likely | point | S241Y | 241 | NM_000546 | chr17:7577559 | AF:0.88; DP:658 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 15 |
2364 | 973 | SV | H3F3A | likely | point | K28M | 28 | NM_002107 | chr1:226252135 | AF:0.91; DP:478 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 15 |
2365 | 974 | SV | FGFR1 | likely | point | N546K | 546 | NM_023110 | chr8:38274849 | AF:0.3; DP:590 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 9 |
2366 | 974 | SV | PTPN11 | likely | point | T507K | 507 | NM_002834 | chr12:112926900 | AF:0.35; DP:471 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 9 |
2367 | 974 | SV | SETD2 | likely | truncation | S1390* | 1390 | NM_014159 | chr3:47161957 | AF:0.25; DP:856 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 9 |
2368 | 975 | CN | SDHD | likely | deletion | deletion | NM_003002 | chr11:111963797.0 | CN:0 | PEDIATRIC | F | SARCOMA | RMS | v4 | 4 | |
2369 | 975 | CN | KDM5A | likely | amplification | amplification | NM_001042603 | chr12:435474.0 | CN:7 | PEDIATRIC | F | SARCOMA | RMS | v4 | 4 | |
2370 | 975 | CN | MDM2 | likely | amplification | amplification | NM_002392 | chr12:69218176.0 | CN:9 | PEDIATRIC | F | SARCOMA | RMS | v4 | 4 | |
2371 | 975 | CN | FGF14 | likely | amplification | amplification | NM_175929 | chr13:102524359.0 | CN:7 | PEDIATRIC | F | SARCOMA | RMS | v4 | 4 | |
2372 | 975 | CN | NOTCH3 | likely | deletion | deletion | NM_000435 | chr19:15292499.0 | CN:0 | PEDIATRIC | F | SARCOMA | RMS | v4 | 4 | |
2373 | 975 | CN | BRD4 | likely | deletion | deletion | NM_014299 | chr19:15362557.0 | CN:0 | PEDIATRIC | F | SARCOMA | RMS | v4 | 4 | |
2374 | 975 | CN | MCL1 | likely | amplification | amplification | NM_182763 | chr1:150550843.0 | CN:7 | PEDIATRIC | F | SARCOMA | RMS | v4 | 4 | |
2375 | 975 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:6 | PEDIATRIC | F | SARCOMA | RMS | v4 | 4 | |
2376 | 975 | SV | KRAS | likely | point | G12V | 12 | NM_004985 | chr12:25398284 | AF:0.74; DP:1145 | PEDIATRIC | F | SARCOMA | RMS | v4 | 4 |
2377 | 975 | SV | HDAC4 | likely | truncation | Y1027fs*19 | 1027 | NM_006037 | chr2:239975291 | AF:0.44; DP:428 | PEDIATRIC | F | SARCOMA | RMS | v4 | 4 |
2378 | 976 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:25 | PEDIATRIC | F | BRAIN | Medulloblastoma | v5 | 9 | |
2379 | 976 | SV | CDKN2A | likely | point | D84H | 84 | NM_000077 | chr9:21971108 | AF:0.5; DP:474 | PEDIATRIC | F | BRAIN | Medulloblastoma | v5 | 9 |
2380 | 977 | RE | ABL1 | likely | rearrangement | ABL1-BCR fusion | none | chr9:133729508 | SR:1859 | PEDIATRIC | M | HEME | ALL | v4 | 2 | |
2381 | 978 | SV | RUNX1 | likely | truncation | S369* | 369 | NM_001754 | chr21:36164769 | AF:0.27; DP:485 | PEDIATRIC | M | HEME | AML | v4 | 16 |
2382 | 979 | SV | PTEN | likely | truncation | Y76fs*24 | 76 | NM_000314 | chr10:89690818 | AF:0.23; DP:815 | PEDIATRIC | M | SARCOMA | Angiosarcoma | v4 | 17 |
2383 | 979 | SV | TP53 | likely | point | L264del | 264 | NM_000546 | chr17:7577145 | AF:0.18; DP:612 | PEDIATRIC | M | SARCOMA | Angiosarcoma | v4 | 17 |
2384 | 980 | SV | APC | likely | point | I1307K | 1307 | NM_000038 | chr5:112175211 | AF:0.5; DP:760 | PEDIATRIC | F | SARCOMA | RMS | v4 | 4 |
2385 | 980 | SV | MLL2 | likely | point | R466C | 466 | NM_003482 | chr12:49446070 | AF:0.44; DP:599 | PEDIATRIC | F | SARCOMA | RMS | v4 | 4 |
2386 | 981 | RE | CBFB | likely | rearrangement | CBFB-LIFR fusion | none | chr16:67070560 | SR:86 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 13 | |
2387 | 982 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:343 | PEDIATRIC | M | BRAIN | PNET | v5 | 5 | |
2388 | 982 | SV | TP53 | likely | point | V157F | 157 | NM_000546 | chr17:7578461 | AF:0.9; DP:354 | PEDIATRIC | M | BRAIN | PNET | v5 | 5 |
2389 | 983 | CN | MET | likely | amplification | amplification | NM_000245 | chr7:116406510.0 | CN:18 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 18 | |
2390 | 983 | SV | TP53 | likely | point | R267W | 267 | NM_000546 | chr17:7577139 | AF:0.82; DP:526 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 18 |
2391 | 985 | SV | GABRA6 | likely | point | W437C | 437 | NM_000811 | chr5:161128728 | AF:0.47; DP:691 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
2392 | 985 | SV | PIK3CA | likely | point | R93Q | 93 | NM_006218 | chr3:178916891 | AF:0.45; DP:813 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
2393 | 985 | SV | MYCN | likely | point | H386R | 386 | NM_005378 | chr2:16085981 | AF:0.44; DP:627 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
2394 | 985 | SV | TP53 | likely | point | G279V | 279 | NM_000546 | chr17:7577102 | AF:0.45; DP:741 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
2395 | 985 | SV | ARID1A | likely | truncation | Q1327fs*11 | 1327 | NM_006015 | chr1:27100181 | AF:0.38; DP:605 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
2396 | 985 | SV | ATM | likely | truncation | L243fs*11 | 243 | NM_000051 | chr11:108115580 | AF:0.13; DP:773 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
2397 | 985 | SV | ATM | likely | truncation | I1581fs*5 | 1581 | NM_000051 | chr11:108164169 | AF:0.41; DP:607 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
2398 | 985 | SV | ATR | likely | truncation | R1402* | 1402 | NM_001184 | chr3:142241632 | AF:0.5; DP:484 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
2399 | 985 | SV | ATRX | likely | truncation | N1318fs*6 | 1318 | NM_000489 | chrX:76919043 | AF:0.75; DP:228 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
2400 | 985 | SV | BARD1 | likely | truncation | N306fs*6 | 306 | NM_000465 | chr2:215645685 | AF:0.4; DP:683 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
2401 | 985 | SV | BCORL1 | likely | truncation | S685* | 685 | NM_021946 | chrX:129148802 | AF:0.91; DP:317 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
2402 | 985 | SV | BRCA2 | likely | truncation | Q1429fs*9 | 1429 | NM_000059 | chr13:32912776 | AF:0.39; DP:815 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
2403 | 985 | SV | BRCA2 | likely | truncation | T3033fs*11 | 3033 | NM_000059 | chr13:32954030 | AF:0.34; DP:608 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
2404 | 985 | SV | CDKN2A | likely | truncation | T137fs*5 | 137 | NM_000077 | chr9:21970956 | AF:0.14; DP:547 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
2405 | 985 | SV | CHEK2 | likely | truncation | Y329fs*12 | 329 | NM_007194 | chr22:29095853 | AF:0.13; DP:621 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
2406 | 985 | SV | CIC | likely | truncation | S1117fs*34 | 1117 | NM_015125 | chr19:42796889 | AF:0.36; DP:521 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
2407 | 985 | SV | CTCF | likely | truncation | T204fs*26 | 204 | NM_006565 | chr16:67645345 | AF:0.44; DP:713 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
2408 | 985 | SV | CTCF | likely | truncation | G329fs*18 | 329 | NM_001191022 | chr16:67670722 | AF:0.42; DP:489 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
2409 | 985 | SV | FAT1 | likely | truncation | splice site 10206+1G>T | NM_005245 | chr4:187530336 | AF:0.44; DP:457 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 | |
2410 | 985 | SV | FLT3 | likely | truncation | N609fs*25 | 609 | NM_004119 | chr13:28608233 | AF:0.4; DP:668 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
2411 | 985 | SV | FUBP1 | likely | truncation | splice site 1345-1G>T | NM_003902 | chr1:78426181 | AF:0.45; DP:286 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 | |
2412 | 985 | SV | GATA3 | likely | truncation | S237fs*67 | 237 | NM_001002295 | chr10:8100734 | AF:0.74; DP:534 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
2413 | 985 | SV | MAGI2 | likely | truncation | A1422fs*19 | 1422 | NM_012301 | chr7:77648743 | AF:0.35; DP:26 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
2414 | 985 | SV | MAGI2 | likely | truncation | splice site 2404-1G>T | NM_012301 | chr7:77797426 | AF:0.42; DP:506 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 | |
2415 | 985 | SV | NF1 | likely | truncation | Q1987fs*22 | 1987 | NM_001042492 | chr17:29662001 | AF:0.39; DP:630 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
2416 | 985 | SV | NOTCH3 | likely | truncation | G2035fs*60 | 2035 | NM_000435 | chr19:15272343 | AF:0.32; DP:314 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
2417 | 985 | SV | PBRM1 | likely | truncation | R926fs*4 | 926 | NM_018313 | chr3:52637545 | AF:0.37; DP:530 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
2418 | 985 | SV | PBRM1 | likely | truncation | splice site 1087+1G>T | NM_018313 | chr3:52675969 | AF:0.05; DP:477 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 | |
2419 | 985 | SV | PBRM1 | likely | truncation | I279fs*8 | 279 | NM_018313 | chr3:52678790 | AF:0.39; DP:412 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
2420 | 985 | SV | PTCH1 | likely | truncation | splice site 2561-1G>T | NM_000264 | chr9:98224281 | AF:0.47; DP:449 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 | |
2421 | 985 | SV | SETD2 | likely | truncation | C2485* | 2485 | NM_014159 | chr3:47059206 | AF:0.49; DP:568 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
2422 | 985 | SV | SMAD4 | likely | truncation | N216fs*19 | 216 | NM_005359 | chr18:48581343 | AF:0.45; DP:631 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 |
2423 | 985 | SV | TP53 | likely | truncation | splice site 673-1G>T | NM_000546 | chr17:7577609 | AF:0.25; DP:393 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 | |
2424 | 985 | SV | TP53 | likely | truncation | splice site 97-2A>G | NM_000546 | chr17:7579592 | AF:0.42; DP:495 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 4 | |
2425 | 986 | SV | MYCN | likely | point | P44L | 44 | NM_005378 | chr2:16082317 | AF:0.63; DP:908 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 2 |
2426 | 986 | SV | ATRX | likely | truncation | R211fs*3 | 211 | NM_000489 | chrX:76940465 | AF:0.36; DP:694 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 2 |
2427 | 987 | SV | STK11 | likely | point | F354L | 354 | NM_000455 | chr19:1223125 | AF:0.47; DP:511 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 13 |
2428 | 987 | SV | PRDM1 | likely | point | S76L | 76 | NM_001198 | chr6:106536260 | AF:0.48; DP:768 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 13 |
2429 | 987 | SV | ALK | likely | point | F1174L | 1174 | NM_004304 | chr2:29443697 | AF:0.04; DP:436 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 13 |
2430 | 988 | SV | HIST1H1C | likely | point | K178N | 178 | NM_005319 | chr6:26056123 | AF:0.06; DP:878 | PEDIATRIC | F | CARCINOMA | Gyn carcinoma | v4 | 13 |
2431 | 988 | SV | SMARCA4 | likely | truncation | L1161fs*15 | 1161 | NM_003072 | chr19:11141503 | AF:0.76; DP:443 | PEDIATRIC | F | CARCINOMA | Gyn carcinoma | v4 | 13 |
2432 | 989 | CN | SMARCB1 | likely | deletion | deletion | NM_003073 | chr22:24152283.0 | CN:0 | PEDIATRIC | M | SARCOMA | Soft tissue (NOS) | v4 | 10 | |
2433 | 990 | SV | CTNNB1 | likely | truncation | G34fs*14 | 34 | NM_001904 | chr3:41266102 | AF:0.12; DP:757 | PEDIATRIC | M | CARCINOMA | HCC | v5 | 10 |
2434 | 991 | SV | CEBPA | likely | truncation | D107fs*1 | 107 | NM_004364 | chr19:33793005 | AF:0.48; DP:83 | PEDIATRIC | F | HEME | AML | v4 | 14 |
2435 | 991 | SV | CEBPA | likely | point | V314_L315insL | 314 | NM_004364 | chr19:33792380 | AF:0.38; DP:462 | PEDIATRIC | F | HEME | AML | v4 | 14 |
2436 | 992 | RE | NSD1 | likely | rearrangement | NSD1-NUP98 fusion | none | chr5:176662872 | SR:179 | PEDIATRIC | M | HEME | AML | v4 | 4 | |
2437 | 992 | SV | NRAS | likely | point | G12D | 12 | NM_002524 | chr1:115258747 | AF:0.48; DP:596 | PEDIATRIC | M | HEME | AML | v4 | 4 |
2438 | 992 | SV | WT1 | likely | truncation | S381* | 381 | NM_024426 | chr11:32417910 | AF:0.16; DP:391 | PEDIATRIC | M | HEME | AML | v4 | 4 |
2439 | 992 | SV | TRRAP | likely | point | R1651H | 1651 | NM_003496 | chr7:98547356 | AF:0.48; DP:493 | PEDIATRIC | M | HEME | AML | v4 | 4 |
2440 | 993 | SV | KRAS | likely | point | K117N | 117 | NM_004985 | chr12:25378647 | AF:0.04; DP:464 | PEDIATRIC | F | HEME | AML | v4 | 3 |
2441 | 993 | SV | NRAS | likely | point | G12D | 12 | NM_002524 | chr1:115258747 | AF:0.17; DP:487 | PEDIATRIC | F | HEME | AML | v4 | 3 |
2442 | 993 | SV | KRAS | likely | point | G12S | 12 | NM_004985 | chr12:25398285 | AF:0.06; DP:552 | PEDIATRIC | F | HEME | AML | v4 | 3 |
2443 | 994 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | HEME | AML | v4 | 17 | |
2444 | 994 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | HEME | AML | v4 | 17 | |
2445 | 994 | RE | CREBBP | likely | rearrangement | CREBBP-MYST3 fusion | none | chr16:3900936 | SR:449 | PEDIATRIC | M | HEME | AML | v4 | 17 | |
2446 | 994 | SV | FLT3 | likely | point | D835E | 835 | NM_004119 | chr13:28592640 | AF:0.01; DP:694 | PEDIATRIC | M | HEME | AML | v4 | 17 |
2447 | 994 | SV | FLT3 | likely | point | Y589_V592del | 589 | NM_004119 | chr13:28608279 | AF:0.15; DP:697 | PEDIATRIC | M | HEME | AML | v4 | 17 |
2448 | 994 | SV | MLL | likely | point | E1060D | 1060 | NM_005933 | chr11:118347543 | AF:0.53; DP:540 | PEDIATRIC | M | HEME | AML | v4 | 17 |
2449 | 994 | SV | PTPN11 | likely | point | E76A | 76 | NM_002834 | chr12:112888211 | AF:0.15; DP:508 | PEDIATRIC | M | HEME | AML | v4 | 17 |
2450 | 994 | SV | MLL2 | likely | truncation | F1952fs*5 | 1952 | NM_003482 | chr12:49436362 | AF:0.33; DP:510 | PEDIATRIC | M | HEME | AML | v4 | 17 |
2451 | 995 | SV | BRAF | likely | point | V600E | 600 | NM_004333 | chr7:140453136 | AF:0.61; DP:679 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 16 |
2452 | 995 | SV | PREX2 | likely | point | M377V | 377 | NM_024870 | chr8:68968100 | AF:0.32; DP:909 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 16 |
2453 | 995 | SV | H3F3A | likely | point | K28M | 28 | NM_002107 | chr1:226252135 | AF:0.44; DP:352 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 16 |
2454 | 996 | SV | ALK | likely | point | F1174L | 1174 | NM_004304 | chr2:29443695 | AF:0.14; DP:632 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 2 |
2455 | 998 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | BRAIN | Ganglioglioma | v5 | 10 | |
2456 | 998 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | BRAIN | Ganglioglioma | v5 | 10 | |
2457 | 998 | RE | BRAF | likely | rearrangement | BRAF-TMEM106B fusion | none | chr7:140496787 | SR:81 | PEDIATRIC | F | BRAIN | Ganglioglioma | v5 | 10 | |
2458 | 1001 | CN | ARID1A | likely | deletion | deletion | NM_006015 | chr1:27093674.0 | CN:0 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v4 | 17 | |
2459 | 1001 | SV | CD36 | likely | truncation | T111fs*22 | 111 | NM_000072 | chr7:80290428 | AF:0.41; DP:792 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v4 | 17 |
2460 | 1001 | SV | ROS1 | likely | point | N1495D | 1495 | NM_002944 | chr6:117665264 | AF:0.5; DP:767 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v4 | 17 |
2461 | 1002 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 14 | |
2462 | 1002 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 14 | |
2463 | 1002 | SV | MLL3 | likely | point | C310S | 310 | NM_170606 | chr7:151970873 | AF:0.05; DP:1093 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 14 |
2464 | 1003 | SV | PTCH1 | likely | truncation | G14fs*61 | 14 | NM_000264 | chr9:98270588 | AF:0.24; DP:177 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 8 |
2465 | 1003 | SV | TP53 | likely | truncation | Y234* | 234 | NM_000546 | chr17:7577579 | AF:0.76; DP:470 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 8 |
2466 | 1004 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:30 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 14 | |
2467 | 1004 | RE | BRCA2 | likely | rearrangement | BRCA2-L3MBTL1 rearrangement | none | chr13:32920764 | SR:17 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 14 | |
2468 | 1004 | SV | TSC2 | likely | truncation | A1146fs*45 | 1146 | NM_000548 | chr16:2130203 | AF:0.06; DP:286 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 14 |
2469 | 1004 | SV | NF2 | likely | truncation | K123* | 123 | NM_000268 | chr22:30038194 | AF:0.19; DP:551 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 14 |
2470 | 1005 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:198 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 3 | |
2471 | 1005 | SV | MLL2 | likely | truncation | R1903* | 1903 | NM_003482 | chr12:49436599 | AF:0.05; DP:493 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 3 |
2472 | 1006 | SV | TERT | likely | point | promoter -124C>T | NM_198253 | chr5:1295228 | AF:0.14; DP:37 | PEDIATRIC | M | CARCINOMA | HCC | v5 | 18 | |
2473 | 1007 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:16 | PEDIATRIC | M | SARCOMA | Soft tissue (NOS) | v4 | 9 | |
2474 | 1007 | RE | EWSR1 | likely | rearrangement | EWSR1-CREB3L1 rearrangement | none | chr22:29683073 | SR:392 | PEDIATRIC | M | SARCOMA | Soft tissue (NOS) | v4 | 9 | |
2475 | 1008 | SV | ALK | likely | point | F1245V | 1245 | NM_004304 | chr2:29436860 | AF:0.19; DP:575 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 1 |
2476 | 1009 | SV | DICER1 | likely | point | E1813D | 1813 | NM_030621 | chr14:95557628 | AF:0.09; DP:398 | PEDIATRIC | F | GONADAL TUMORS | Ovarian/Testis | v5 | 15 |
2477 | 1009 | SV | DICER1 | likely | truncation | I1102fs*40 | 1102 | NM_030621 | chr14:95570422 | AF:0.46; DP:529 | PEDIATRIC | F | GONADAL TUMORS | Ovarian/Testis | v5 | 15 |
2478 | 1010 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:61 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 1 | |
2479 | 1011 | SV | TP53 | likely | point | C135F | 135 | NM_000546 | chr17:7578526 | AF:0.16; DP:440 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 12 |
2480 | 1011 | SV | BCORL1 | likely | truncation | Y1692* | 1692 | NM_021946 | chrX:129190051 | AF:0.13; DP:487 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 12 |
2481 | 1011 | SV | BCOR | likely | truncation | A815fs*2 | 815 | NM_017745 | chrX:39932156 | AF:0.12; DP:709 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 12 |
2482 | 1012 | CN | FGF14 | likely | amplification | amplification | NM_175929 | chr13:102524359.0 | CN:9 | PEDIATRIC | F | BRAIN | PNET | v5 | 12 | |
2483 | 1012 | CN | IRS2 | likely | amplification | amplification | NM_003749 | chr13:110421551.0 | CN:9 | PEDIATRIC | F | BRAIN | PNET | v5 | 12 | |
2484 | 1012 | CN | MCL1 | likely | amplification | amplification | NM_182763 | chr1:150550843.0 | CN:10 | PEDIATRIC | F | BRAIN | PNET | v5 | 12 | |
2485 | 1012 | CN | PIK3C2B | likely | amplification | amplification | NM_002646 | chr1:204413374.0 | CN:10 | PEDIATRIC | F | BRAIN | PNET | v5 | 12 | |
2486 | 1012 | CN | MDM4 | likely | amplification | amplification | NM_002393 | chr1:204506988.0 | CN:10 | PEDIATRIC | F | BRAIN | PNET | v5 | 12 | |
2487 | 1012 | CN | IKBKE | likely | amplification | amplification | NM_014002 | chr1:206653621.0 | CN:10 | PEDIATRIC | F | BRAIN | PNET | v5 | 12 | |
2488 | 1012 | CN | AKT3 | likely | amplification | amplification | NM_005465 | chr1:243756648.0 | CN:10 | PEDIATRIC | F | BRAIN | PNET | v5 | 12 | |
2489 | 1012 | RE | BRAF | likely | rearrangement | BRAF-KIAA1549 fusion | none | chr7:140488198 | SR:28 | PEDIATRIC | F | BRAIN | PNET | v5 | 12 | |
2490 | 1012 | SV | GABRA6 | likely | point | T113M | 113 | NM_000811 | chr5:161116067 | AF:0.52; DP:623 | PEDIATRIC | F | BRAIN | PNET | v5 | 12 |
2491 | 1012 | SV | ATM | likely | truncation | R457* | 457 | NM_000051 | chr11:108121561 | AF:0.57; DP:519 | PEDIATRIC | F | BRAIN | PNET | v5 | 12 |
2492 | 1012 | SV | NOTCH2 | likely | truncation | P6fs*27 | 6 | NM_024408 | chr1:120612004 | AF:0.58; DP:641 | PEDIATRIC | F | BRAIN | PNET | v5 | 12 |
2493 | 1013 | RE | FGFR2 | likely | rearrangement | FGFR2-PASD1 fusion | none | chr10:123239902 | SR:36 | PEDIATRIC | F | BRAIN | Glioma | v5 | 17 | |
2494 | 1014 | SV | PASK | likely | truncation | P860fs*8 | 860 | NM_015148 | chr2:242065752 | AF:0.47; DP:593 | PEDIATRIC | M | HEME | Histiocytic neoplasm | v4 | 4 |
2495 | 1014 | SV | CDH1 | likely | point | S838G | 838 | NM_004360 | chr16:68867265 | AF:0.47; DP:542 | PEDIATRIC | M | HEME | Histiocytic neoplasm | v4 | 4 |
2496 | 1014 | SV | BRAF | likely | point | V600E | 600 | NM_004333 | chr7:140453136 | AF:0.12; DP:559 | PEDIATRIC | M | HEME | Histiocytic neoplasm | v4 | 4 |
2497 | 1015 | SV | SPEN | likely | truncation | Q592* | 592 | NM_015001 | chr1:16248768 | AF:0.64; DP:560 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 1 |
2498 | 1017 | RE | MLL | likely | rearrangement | MLL-AFF1 fusion | none | chr11:118360519 | SR:1541 | PEDIATRIC | M | HEME | AML | v4 | 15 | |
2499 | 1017 | SV | PTPN11 | likely | point | E76K | 76 | NM_002834 | chr12:112888210 | AF:0.42; DP:582 | PEDIATRIC | M | HEME | AML | v4 | 15 |
2500 | 1017 | SV | CDKN2A | likely | point | H83Y | 83 | NM_000077 | chr9:21971111 | AF:0.03; DP:457 | PEDIATRIC | M | HEME | AML | v4 | 15 |
2501 | 1017 | SV | CD36 | likely | truncation | N53fs*24 | 53 | NM_000072 | chr7:80285892 | AF:0.53; DP:674 | PEDIATRIC | M | HEME | AML | v4 | 15 |
2502 | 1017 | SV | ETV6 | likely | truncation | E392* | 392 | NM_001987 | chr12:12038881 | AF:0.42; DP:648 | PEDIATRIC | M | HEME | AML | v4 | 15 |
2503 | 1019 | SV | NRAS | likely | point | G12D | 12 | NM_002524 | chr1:115258747 | AF:0.98; DP:587 | PEDIATRIC | M | HEME | AML | v4 | 14 |
2504 | 1019 | SV | DNMT3A | likely | point | R882C | 882 | NM_022552 | chr2:25457243 | AF:0.47; DP:571 | PEDIATRIC | M | HEME | AML | v4 | 14 |
2505 | 1019 | SV | SETBP1 | likely | point | D868N | 868 | NM_015559 | chr18:42531907 | AF:0.5; DP:856 | PEDIATRIC | M | HEME | AML | v4 | 14 |
2506 | 1019 | SV | CSF3R | likely | point | T618I | 618 | NM_156039 | chr1:36933434 | AF:0.99; DP:811 | PEDIATRIC | M | HEME | AML | v4 | 14 |
2507 | 1019 | SV | ETV6 | likely | truncation | W380* | 380 | NM_001987 | chr12:12037509 | AF:0.45; DP:797 | PEDIATRIC | M | HEME | AML | v4 | 14 |
2508 | 1020 | SV | ATR | likely | point | R668W | 668 | NM_001184 | chr3:142275301 | AF:0.35; DP:485 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 14 |
2509 | 1021 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 16 | |
2510 | 1021 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 16 | |
2511 | 1021 | SV | H3F3A | likely | point | G35R | 35 | NM_002107 | chr1:226252155 | AF:0.36; DP:522 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 16 |
2512 | 1021 | SV | ATRX | likely | truncation | V1579fs*21 | 1579 | NM_000489 | chrX:76890158 | AF:0.84; DP:385 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 16 |
2513 | 1022 | SV | WT1 | likely | truncation | R430* | 430 | NM_024426 | chr11:32414263 | AF:0.79; DP:600 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 5 |
2514 | 1023 | SV | H3F3A | likely | point | K28M | 28 | NM_002107 | chr1:226252135 | AF:0.51; DP:379 | PEDIATRIC | F | BRAIN | Glioma | v5 | 14 |
2515 | 1023 | SV | BRAF | likely | point | V600E | 600 | NM_004333 | chr7:140453136 | AF:0.36; DP:407 | PEDIATRIC | F | BRAIN | Glioma | v5 | 14 |
2516 | 1023 | SV | TP53 | likely | point | D281H | 281 | NM_000546 | chr17:7577097 | AF:0.02; DP:606 | PEDIATRIC | F | BRAIN | Glioma | v5 | 14 |
2517 | 1023 | SV | ATRX | likely | truncation | K1938fs*15 | 1938 | NM_000489 | chrX:76855018 | AF:0.23; DP:488 | PEDIATRIC | F | BRAIN | Glioma | v5 | 14 |
2518 | 1024 | SV | TP53 | likely | point | Y234N | 234 | NM_000546 | chr17:7577581 | AF:0.02; DP:653 | PEDIATRIC | M | HEME | ALL | v4 | 15 |
2519 | 1024 | SV | PIK3CA | likely | point | E542K | 542 | NM_006218 | chr3:178936082 | AF:0.03; DP:360 | PEDIATRIC | M | HEME | ALL | v4 | 15 |
2520 | 1026 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | HEME | ALL | v4 | 3 | |
2521 | 1026 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | HEME | ALL | v4 | 3 | |
2522 | 1026 | SV | NOTCH1 | likely | point | F1592_L1593insP | 1592 | NM_017617 | chr9:139399367 | AF:0.27; DP:764 | PEDIATRIC | M | HEME | ALL | v4 | 3 |
2523 | 1027 | CN | MTOR | likely | amplification | amplification | NM_004958 | chr1:11217278.0 | CN:9 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 13 | |
2524 | 1027 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:7 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 13 | |
2525 | 1027 | SV | CUX1 | likely | truncation | Q662* | 662 | NM_001202544 | chr7:101926377 | AF:0.42; DP:392 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 13 |
2526 | 1027 | SV | TP53 | likely | point | R248W | 248 | NM_000546 | chr17:7577539 | AF:0.77; DP:341 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 13 |
2527 | 1028 | SV | EZH2 | likely | point | R684H | 684 | NM_004456 | chr7:148506461 | AF:0.07; DP:633 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2528 | 1028 | SV | FAM123B | likely | truncation | R626* | 626 | NM_152424 | chrX:63411291 | AF:0.93; DP:404 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2529 | 1028 | SV | FAM46C | likely | point | V52I | 52 | NM_017709 | chr1:118165644 | AF:0.47; DP:763 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2530 | 1028 | SV | LZTR1 | likely | point | R697Q | 697 | NM_006767 | chr22:21350272 | AF:0.45; DP:603 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2531 | 1028 | SV | MLH1 | likely | truncation | R100* | 100 | NM_000249 | chr3:37042536 | AF:0.33; DP:662 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2532 | 1028 | SV | MLL2 | likely | truncation | R4904* | 4904 | NM_003482 | chr12:49421039 | AF:0.04; DP:642 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2533 | 1028 | SV | MSH2 | likely | point | R406Q | 406 | NM_000251 | chr2:47657021 | AF:0.47; DP:788 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2534 | 1028 | SV | NCOR1 | likely | truncation | E560* | 560 | NM_006311 | chr17:16024540 | AF:0.31; DP:651 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2535 | 1028 | SV | NF1 | likely | point | A2617V | 2617 | NM_001042492 | chr17:29684089 | AF:0.02; DP:659 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2536 | 1028 | SV | NOTCH3 | likely | point | A1608T | 1608 | NM_000435 | chr19:15281551 | AF:0.02; DP:504 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2537 | 1028 | SV | NRAS | likely | point | G60E | 60 | NM_002524 | chr1:115256532 | AF:0.45; DP:701 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2538 | 1028 | SV | NTRK1 | likely | point | A5T | 5 | NM_001007792 | chr1:156811876 | AF:0.44; DP:598 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2539 | 1028 | SV | PALB2 | likely | point | R753Q | 753 | NM_024675 | chr16:23641217 | AF:0.09; DP:1048 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2540 | 1028 | SV | PIK3CA | likely | point | R88Q | 88 | NM_006218 | chr3:178916876 | AF:0.48; DP:954 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2541 | 1028 | SV | PIK3R1 | likely | truncation | R358* | 358 | NM_181523 | chr5:67588981 | AF:0.13; DP:839 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2542 | 1028 | SV | PPP2R1A | likely | point | E437K | 437 | NM_014225 | chr19:52723448 | AF:0.33; DP:699 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2543 | 1028 | SV | PTEN | likely | point | R173H | 173 | NM_000314 | chr10:89711900 | AF:0.32; DP:973 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2544 | 1028 | SV | PTEN | likely | truncation | R233* | 233 | NM_000314 | chr10:89717672 | AF:0.11; DP:1135 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2545 | 1028 | SV | PTEN | likely | truncation | R335* | 335 | NM_000314 | chr10:89720852 | AF:0.43; DP:291 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2546 | 1028 | SV | RAF1 | likely | point | S257L | 257 | NM_002880 | chr3:12645699 | AF:0.02; DP:926 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2547 | 1028 | SV | SPTA1 | likely | point | R137L | 137 | NM_003126 | chr1:158651438 | AF:0.33; DP:753 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2548 | 1028 | SV | TNKS | likely | point | R646H | 646 | NM_003747 | chr8:9584166 | AF:0.12; DP:864 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2549 | 1028 | SV | TP53 | likely | point | R282W | 282 | NM_000546 | chr17:7577094 | AF:0.47; DP:975 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2550 | 1028 | SV | TP53 | likely | truncation | R213* | 213 | NM_000546 | chr17:7578212 | AF:0.44; DP:790 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2551 | 1028 | SV | ARID1A | likely | truncation | splice site 4005-1G>A | NM_006015 | chr1:27100292 | AF:0.35; DP:805 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 | |
2552 | 1028 | SV | ATRX | likely | truncation | E892* | 892 | NM_000489 | chrX:76938074 | AF:0.91; DP:600 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2553 | 1028 | SV | CDKN2C | likely | truncation | splice site 130-2A>G | NM_001262 | chr1:51439563 | AF:0.28; DP:631 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 | |
2554 | 1028 | SV | CREBBP | likely | truncation | E1040* | 1040 | NM_004380 | chr16:3817853 | AF:0.46; DP:689 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2555 | 1028 | SV | CTNNA1 | likely | truncation | splice site 1144-1G>T | NM_001903 | chr5:138223178 | AF:0.42; DP:529 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 | |
2556 | 1028 | SV | CYLD | likely | truncation | L306fs*30 | 306 | NM_015247 | chr16:50788372 | AF:0.29; DP:627 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2557 | 1028 | SV | EGFR | likely | point | K739R | 739 | NM_005228 | chr7:55242446 | AF:0.05; DP:739 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2558 | 1028 | SV | EP300 | likely | truncation | E961* | 961 | NM_001429 | chr22:41547900 | AF:0.06; DP:783 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2559 | 1028 | SV | FLCN | likely | truncation | H429fs*39 | 429 | NM_144997 | chr17:17119715 | AF:0.38; DP:351 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2560 | 1028 | SV | MLL2 | likely | truncation | splice site 13840-1G>T | NM_003482 | chr12:49424223 | AF:0.31; DP:217 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 | |
2561 | 1028 | SV | MSH6 | likely | truncation | R298* | 298 | NM_000179 | chr2:48026014 | AF:0.46; DP:1039 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2562 | 1028 | SV | MSH6 | likely | point | 3647-6_3647-1delTAACAG | NM_000179 | chr2:48033336 | AF:0.43; DP:559 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 | |
2563 | 1028 | SV | NOTCH1 | likely | truncation | splice site 1904-1G>T | NM_017617 | chr9:139409853 | AF:0.34; DP:479 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 | |
2564 | 1028 | SV | NOTCH2 | likely | truncation | splice site 5929+1G>A | NM_024408 | chr1:120461028 | AF:0.35; DP:727 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 | |
2565 | 1028 | SV | NOTCH2 | likely | truncation | Q1792* | 1792 | NM_024408 | chr1:120462957 | AF:0.41; DP:607 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2566 | 1028 | SV | SETD2 | likely | truncation | Q1932* | 1932 | NM_014159 | chr3:47125476 | AF:0.49; DP:1097 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2567 | 1028 | SV | AXIN1 | likely | point | E134K | 134 | NM_003502 | chr16:396626 | AF:0.46; DP:657 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2568 | 1028 | SV | BRAF | likely | point | S605G | 605 | NM_004333 | chr7:140453122 | AF:0.41; DP:691 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2569 | 1028 | SV | BCL2 | likely | point | A2V | 2 | NM_000633 | chr18:60985895 | AF:0.46; DP:835 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2570 | 1028 | SV | CDKN2A | likely | point | D84N | 84 | NM_000077 | chr9:21971108 | AF:0.14; DP:644 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2571 | 1028 | SV | CTNNA1 | likely | point | R308H | 308 | NM_001903 | chr5:138163268 | AF:0.03; DP:855 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2572 | 1029 | CN | MDM4 | likely | amplification | amplification | NM_002393 | chr1:204506988.0 | CN:9 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 6 | |
2573 | 1029 | CN | PIK3C2B | likely | amplification | amplification | NM_002646 | chr1:204413374.0 | CN:9 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 6 | |
2574 | 1029 | SV | NF1 | likely | truncation | splice | NM_001042492 | chr17:29528504 | AF:0.41; DP:504 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 6 | |
2575 | 1029 | SV | SETD2 | likely | truncation | splice site 5398-1G>A | NM_014159 | chr3:47125873 | AF:0.45; DP:367 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 6 | |
2576 | 1029 | SV | PTEN | likely | point | D52_V53>V | 52 | NM_000314 | chr10:89653856 | AF:0.38; DP:538 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 6 |
2577 | 1029 | SV | RAD50 | likely | truncation | Y625* | 625 | NM_005732 | chr5:131930642 | AF:0.25; DP:502 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 6 |
2578 | 1029 | SV | TP53 | likely | point | T125R | 125 | NM_000546 | chr17:7579313 | AF:0.47; DP:281 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 6 |
2579 | 1030 | RE | APC | likely | truncation | APC truncation | none | chr5:112098857 | SR:45 | PEDIATRIC | M | CARCINOMA | Panc/biliary | v5 | 15 | |
2580 | 1030 | SV | SMAD4 | likely | point | G386R | 386 | NM_005359 | chr18:48593405 | AF:0.72; DP:463 | PEDIATRIC | M | CARCINOMA | Panc/biliary | v5 | 15 |
2581 | 1032 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 11 | |
2582 | 1032 | RE | EGFR | likely | truncation | EGFR deletion | none | chr7:55222229 | SR:13 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 11 | |
2583 | 1032 | RE | EGFR | likely | rearrangement | EGFR-EGFR duplication | none | chr7:55241603 | SR:65 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 11 | |
2584 | 1032 | SV | PIK3CA | likely | point | E545Q | 545 | NM_006218 | chr3:178936091 | AF:0.01; DP:625 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 11 |
2585 | 1032 | SV | TP53 | likely | point | M246V | 246 | NM_000546 | chr17:7577545 | AF:0.79; DP:377 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 11 |
2586 | 1032 | SV | PIK3CA | likely | point | Q546K | 546 | NM_006218 | chr3:178936094 | AF:0.04; DP:642 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 11 |
2587 | 1032 | SV | BCOR | likely | truncation | A603fs*66 | 603 | NM_017745 | chrX:39932792 | AF:0.16; DP:632 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 11 |
2588 | 1033 | SV | APC | likely | truncation | R1450fs*21 | 1450 | NM_000038 | chr5:112175639 | AF:0.71; DP:377 | PEDIATRIC | M | SARCOMA | Fibromatosis | v5 | 15 |
2589 | 1035 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:127 | PEDIATRIC | F | SARCOMA | RMS | v4 | 17 | |
2590 | 1035 | RE | FOXO1 | likely | rearrangement | FOXO1-PAX3 fusion | none | chr13:41134892 | SR:557 | PEDIATRIC | F | SARCOMA | RMS | v4 | 17 | |
2591 | 1035 | SV | NOTCH2 | likely | point | L1740I | 1740 | NM_024408 | chr1:120464428 | AF:0.37; DP:429 | PEDIATRIC | F | SARCOMA | RMS | v4 | 17 |
2592 | 1035 | SV | CHD2 | likely | truncation | R485* | 485 | NM_001271 | chr15:93492257 | AF:0.23; DP:515 | PEDIATRIC | F | SARCOMA | RMS | v4 | 17 |
2593 | 1036 | SV | VHL | likely | point | P81S | 81 | NM_000551 | chr3:10183772 | AF:0.5; DP:434 | PEDIATRIC | M | BRAIN | Ependymoma | v5 | 2 |
2594 | 1036 | SV | KRAS | likely | point | L19F | 19 | NM_004985 | chr12:25398262 | AF:0.02; DP:611 | PEDIATRIC | M | BRAIN | Ependymoma | v5 | 2 |
2595 | 1037 | RE | ALK | likely | rearrangement | ALK-KIF5B fusion | none | chr2:29446296 | SR:212 | PEDIATRIC | F | SARCOMA | Soft tissue assorted | v4 | 1 | |
2596 | 1037 | SV | IGF1R | likely | point | A1206T | 1206 | NM_000875 | chr15:99491831 | AF:0.5; DP:371 | PEDIATRIC | F | SARCOMA | Soft tissue assorted | v4 | 1 |
2597 | 1037 | SV | TCF3 | likely | point | A8V | 8 | NM_003200 | chr19:1650225 | AF:0.53; DP:369 | PEDIATRIC | F | SARCOMA | Soft tissue assorted | v4 | 1 |
2598 | 1038 | SV | CREBBP | likely | point | R1446C | 1446 | NM_004380 | chr16:3788618 | AF:0.24; DP:162 | PEDIATRIC | M | HEME | ALL | v4 | 13 |
2599 | 1038 | SV | KRAS | likely | point | G13C | 13 | NM_004985 | chr12:25398282 | AF:0.26; DP:201 | PEDIATRIC | M | HEME | ALL | v4 | 13 |
2600 | 1039 | RE | CIC | likely | rearrangement | CIC-NUTM1 fusion | none | chr19:42797909 | SR:285 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v4 | 13 | |
2601 | 1039 | SV | HLA-A | likely | point | Q78R | 78 | NM_002116 | chr6:29910693 | AF:0.49; DP:372 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v4 | 13 |
2602 | 1042 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 16 | |
2603 | 1042 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 16 | |
2604 | 1042 | SV | FGFR1 | likely | point | N546K | 546 | NM_023110 | chr8:38274849 | AF:0.21; DP:334 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 16 |
2605 | 1042 | SV | NF1 | likely | truncation | R816* | 816 | NM_001042492 | chr17:29556079 | AF:0.22; DP:290 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 16 |
2606 | 1043 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:46 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 6 | |
2607 | 1043 | CN | ALK | likely | amplification | amplification | NM_004304 | chr2:29455242.0 | CN:54 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 6 | |
2608 | 1043 | SV | DNMT3A | likely | truncation | C136* | 136 | NM_022552 | chr2:25505350 | AF:0.1; DP:287 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 6 |
2609 | 1044 | RE | BRAF | likely | rearrangement | BRAF-KIAA1549 fusion | none | chr7:140491232 | SR:43 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 3 | |
2610 | 1045 | SV | EGFR | likely | point | R222C | 222 | NM_005228 | chr7:55220274 | AF:0.06; DP:544 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 3 |
2611 | 1046 | SV | NPM1 | likely | truncation | L136* | 136 | NM_002520 | chr5:170819768 | AF:0.11; DP:235 | PEDIATRIC | F | CARCINOMA | Head and neck | v5 | 14 |
2612 | 1046 | SV | NF1 | likely | truncation | R758fs*2 | 758 | NM_001042492 | chr17:29554255 | AF:0.1; DP:416 | PEDIATRIC | F | CARCINOMA | Head and neck | v5 | 14 |
2613 | 1047 | CN | ESR1 | likely | amplification | amplification | NM_000125 | chr6:152299217.0 | CN:8 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 7 | |
2614 | 1047 | SV | RAD54L | likely | point | R154W | 154 | NM_003579 | chr1:46726266 | AF:0.97; DP:307 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 7 |
2615 | 1047 | SV | TP53 | likely | point | R273C | 273 | NM_000546 | chr17:7577121 | AF:0.93; DP:371 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 7 |
2616 | 1048 | CN | KRAS | likely | amplification | amplification | NM_004985 | chr12:25378627.0 | CN:8 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 5 | |
2617 | 1050 | RE | ARID2 | likely | rearrangement | ARID2-PLEKHA5 rearrangement | none | chr12:46125093 | SR:148 | PEDIATRIC | M | HEME | ALL | v4 | 10 | |
2618 | 1050 | RE | RUNX1 | likely | rearrangement | RUNX1-PLEKHA5 fusion | none | chr21:36421192 | SR:258 | PEDIATRIC | M | HEME | ALL | v4 | 10 | |
2619 | 1050 | RE | ETV6 | likely | rearrangement | ETV6-ARID2 rearrangement | none | chr12:12038913 | SR:186 | PEDIATRIC | M | HEME | ALL | v4 | 10 | |
2620 | 1050 | RE | ETV6 | likely | rearrangement | ETV6-RUNX1 fusion | none | chr12:12022630 | SR:978 | PEDIATRIC | M | HEME | ALL | v4 | 10 | |
2621 | 1050 | SV | NCOR1 | likely | truncation | S2358* | 2358 | NM_006311 | chr17:15938141 | AF:0.39; DP:339 | PEDIATRIC | M | HEME | ALL | v4 | 10 |
2622 | 1051 | CN | CCND2 | likely | amplification | amplification | NM_001759 | chr12:4388005.0 | CN:11 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 8 | |
2623 | 1051 | CN | RPTOR | likely | amplification | amplification | NM_020761 | chr17:78862231.0 | CN:8 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 8 | |
2624 | 1051 | CN | AURKB | likely | amplification | amplification | NM_004217 | chr17:8110350.0 | CN:8 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 8 | |
2625 | 1051 | CN | AKT3 | likely | amplification | amplification | NM_005465 | chr1:243756648.0 | CN:10 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 8 | |
2626 | 1051 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:8 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 8 | |
2627 | 1051 | CN | GATA4 | likely | deletion | deletion | NM_002052 | chr8:11610140.0 | CN:0 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 8 | |
2628 | 1051 | SV | ARID1A | likely | point | A343_A348>A | 343 | NM_006015 | chr1:27023922 | AF:0.32; DP:132 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 8 |
2629 | 1052 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | HEME | AML | v4 | 13 | |
2630 | 1052 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | HEME | AML | v4 | 13 | |
2631 | 1052 | CN | SUZ12 | likely | deletion | deletion | NM_015355 | chr17:30306828.0 | CN:0 | PEDIATRIC | M | HEME | AML | v4 | 13 | |
2632 | 1052 | SV | TAF1 | likely | truncation | R1357* | 1357 | NM_138923 | chrX:70626561 | AF:0.87; DP:278 | PEDIATRIC | M | HEME | AML | v4 | 13 |
2633 | 1052 | SV | NF1 | likely | truncation | E1333fs*11 | 1333 | NM_001042492 | chr17:29576024 | AF:0.76; DP:228 | PEDIATRIC | M | HEME | AML | v4 | 13 |
2634 | 1053 | CN | PDGFRA | likely | amplification | amplification | NM_006206 | chr4:55139897.0 | CN:23 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 | |
2635 | 1053 | CN | KIT | likely | amplification | amplification | NM_000222 | chr4:55593645.0 | CN:16 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 | |
2636 | 1053 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 | |
2637 | 1053 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 | |
2638 | 1053 | SV | TSC1 | likely | truncation | R500* | 500 | NM_000368 | chr9:135781467 | AF:0.45; DP:204 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2639 | 1053 | SV | NF1 | likely | truncation | N359fs*1 | 359 | NM_001042492 | chr17:29528066 | AF:0.59; DP:229 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2640 | 1053 | SV | TP53 | likely | point | A159P | 159 | NM_000546 | chr17:7578455 | AF:0.66; DP:191 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 16 |
2641 | 1054 | CN | GLI1 | likely | amplification | amplification | NM_005269 | chr12:57859639.0 | CN:7 | PEDIATRIC | F | BRAIN | Glioma | v5 | 14 | |
2642 | 1054 | CN | CDK4 | likely | amplification | amplification | NM_000075 | chr12:58144493.0 | CN:9 | PEDIATRIC | F | BRAIN | Glioma | v5 | 14 | |
2643 | 1054 | SV | CBL | likely | point | A848T | 848 | NM_005188 | chr11:119170312 | AF:0.46; DP:406 | PEDIATRIC | F | BRAIN | Glioma | v5 | 14 |
2644 | 1055 | RE | BCOR | likely | truncation | BCOR truncation | none | chrX:39911519 | SR:77 | PEDIATRIC | F | SARCOMA | Synovial | v4 | 11 | |
2645 | 1058 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:97 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 0 | |
2646 | 1058 | SV | ALK | likely | point | F1174L | 1174 | NM_004304 | chr2:29443695 | AF:0.28; DP:384 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 0 |
2647 | 1059 | RE | ROS1 | likely | rearrangement | ROS1-TFG fusion | none | chr6:117643400 | SR:8 | PEDIATRIC | F | SARCOMA | IMTs | v5 | 4 | |
2648 | 1060 | RE | ETV6 | likely | rearrangement | ETV6-RUNX1 fusion | none | chr12:12033097 | SR:47 | PEDIATRIC | M | HEME | ALL | v4 | 7 | |
2649 | 1061 | CN | PTEN | likely | deletion | deletion | NM_000314 | chr10:89692889.0 | CN:0 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 | |
2650 | 1061 | CN | RB1 | likely | deletion | deletion | NM_000321 | chr13:48953758.0 | CN:0 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 | |
2651 | 1061 | CN | PIK3CA | likely | amplification | amplification | NM_006218 | chr3:178937223.0 | CN:6 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 | |
2652 | 1061 | CN | SOX2 | likely | amplification | amplification | NM_003106 | chr3:181430625.0 | CN:6 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 | |
2653 | 1061 | SV | STAG2 | likely | truncation | K89fs*1 | 89 | NM_006603 | chrX:123164951 | AF:0.91; DP:298 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2654 | 1061 | SV | TP53 | likely | point | R175H | 175 | NM_000546 | chr17:7578406 | AF:0.95; DP:365 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
2655 | 1062 | SV | ALK | likely | point | R1275Q | 1275 | NM_004304 | chr2:29432664 | AF:0.49; DP:491 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 10 |
2656 | 1063 | SV | BRIP1 | likely | point | R798Q | 798 | NM_032043 | chr17:59793411 | AF:0.35; DP:707 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 3 |
2657 | 1064 | RE | MLL | likely | rearrangement | MLL-MLLT3 fusion | none | chr11:118353173 | SR:54 | PEDIATRIC | M | HEME | AML | v4 | 1 | |
2658 | 1064 | SV | NOTCH4 | likely | truncation | splice site 74-1G>T | NM_004557 | chr6:32190864 | AF:0.51; DP:375 | PEDIATRIC | M | HEME | AML | v4 | 1 | |
2659 | 1065 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:75 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 2 | |
2660 | 1066 | RE | IKZF1 | likely | truncation | IKZF1 truncation | none | chr7:50367275 | SR:231 | PEDIATRIC | F | HEME | ALL | v4 | 14 | |
2661 | 1066 | SV | IKZF1 | likely | point | M1_Q7>? | 1 | NM_006060 | chr7:50358590 | AF:0.09; DP:322 | PEDIATRIC | F | HEME | ALL | v4 | 14 |
2662 | 1066 | SV | BCORL1 | likely | truncation | E1172* | 1172 | NM_021946 | chrX:129155032 | AF:0.06; DP:493 | PEDIATRIC | F | HEME | ALL | v4 | 14 |
2663 | 1067 | RE | CRLF2 | likely | rearrangement | CRLF2-P2RY8 fusion | none | chrX:1327741 | SR:2715 | PEDIATRIC | F | HEME | ALL | v4 | 13 | |
2664 | 1067 | SV | PIK3CA | likely | point | R1023Q | 1023 | NM_006218 | chr3:178952013 | AF:0.03; DP:733 | PEDIATRIC | F | HEME | ALL | v4 | 13 |
2665 | 1067 | SV | IL7R | likely | point | E237_S246>CRG | 237 | NM_002185 | chr5:35874559 | AF:0.45; DP:526 | PEDIATRIC | F | HEME | ALL | v4 | 13 |
2666 | 1068 | RE | JAK2 | likely | rearrangement | JAK2-PAX5 fusion | none | chr9:5081784 | SR:1606 | PEDIATRIC | F | HEME | ALL | v4 | 1 | |
2667 | 1069 | RE | HDAC4 | likely | truncation | HDAC4 truncation | none | chr2:240274493 | SR:92 | PEDIATRIC | F | SARCOMA | RMS | v4 | 7 | |
2668 | 1069 | RE | PAX3 | likely | rearrangement | PAX3-GLI2 fusion | none | chr2:223084991 | SR:100 | PEDIATRIC | F | SARCOMA | RMS | v4 | 7 | |
2669 | 1069 | SV | CDKN2A | likely | point | P48L | 48 | NM_000077 | chr9:21974684 | AF:0.04; DP:369 | PEDIATRIC | F | SARCOMA | RMS | v4 | 7 |
2670 | 1070 | RE | MLL | likely | rearrangement | MLL-MLLT3 fusion | none | chr11:118356033 | SR:170 | PEDIATRIC | F | HEME | AML | v4 | 14 | |
2671 | 1070 | SV | KRAS | likely | point | G12D | 12 | NM_004985 | chr12:25398284 | AF:0.03; DP:506 | PEDIATRIC | F | HEME | AML | v4 | 14 |
2672 | 1070 | SV | KRAS | likely | point | Q61R | 61 | NM_004985 | chr12:25380276 | AF:0.36; DP:510 | PEDIATRIC | F | HEME | AML | v4 | 14 |
2673 | 1070 | SV | BRAF | likely | point | V600E | 600 | NM_004333 | chr7:140453136 | AF:0.02; DP:410 | PEDIATRIC | F | HEME | AML | v4 | 14 |
2674 | 1073 | SV | BRAF | likely | point | G469V | 469 | NM_004333 | chr7:140481402 | AF:0.12; DP:1133 | PEDIATRIC | M | HEME | ALL | v2 | 12 |
2675 | 1073 | SV | KRAS | likely | point | G12C | 12 | NM_004985 | chr12:25398285 | AF:0.3; DP:1098 | PEDIATRIC | M | HEME | ALL | v2 | 12 |
2676 | 1073 | SV | CCND2 | likely | point | G268R | 268 | NM_001759 | chr12:4409107 | AF:0.37; DP:1103 | PEDIATRIC | M | HEME | ALL | v2 | 12 |
2677 | 1073 | SV | NOTCH1 | likely | truncation | Q2440* | 2440 | NM_017617 | chr9:139390873 | AF:0.08; DP:972 | PEDIATRIC | M | HEME | ALL | v2 | 12 |
2678 | 1074 | SV | MSH6 | likely | truncation | K1358fs*2 | 1358 | NM_000179 | chr2:48033983 | AF:0.44; DP:774 | PEDIATRIC | M | BRAIN | PNET | v2 | 5 |
2679 | 1075 | SV | CTNNB1 | likely | point | S33C | 33 | NM_001904 | chr3:41266101 | AF:0.34; DP:671 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v2 | 0 |
2680 | 1076 | SV | KRAS | likely | point | L19F | 19 | NM_004985 | chr12:25398262 | AF:0.03; DP:659 | PEDIATRIC | M | SARCOMA | Angiosarcoma | v2 | 4 |
2681 | 1079 | SV | RB1 | likely | truncation | splice | NM_000321 | chr13:49050981 | AF:0.08; DP:418 | PEDIATRIC | F | CARCINOMA | Lung | v2 | 17 | |
2682 | 1080 | RE | EWSR1 | likely | rearrangement | EWSR1-FLI1 fusion | none | chr22:29688425 | SR:128 | PEDIATRIC | F | SARCOMA | Ewing | v4 | 3 | |
2683 | 1081 | SV | ASXL1 | likely | truncation | S663fs*9 | 663 | NM_015338 | chr20:31022500 | AF:0.14; DP:634 | PEDIATRIC | M | HEME | MDS and/or MPN | v4 | 17 |
2684 | 1081 | SV | FGF14 | likely | point | A236V | 236 | NM_175929 | chr13:102375233 | AF:0.52; DP:565 | PEDIATRIC | M | HEME | MDS and/or MPN | v4 | 17 |
2685 | 1083 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:216 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 2 | |
2686 | 1083 | SV | ARID1A | likely | truncation | R1989* | 1989 | NM_006015 | chr1:27106354 | AF:0.03; DP:349 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 2 |
2687 | 1083 | SV | ALK | likely | point | F1174L | 1174 | NM_004304 | chr2:29443695 | AF:0.23; DP:277 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 2 |
2688 | 1084 | SV | SF3B1 | likely | point | K700E | 700 | NM_012433 | chr2:198266834 | AF:0.38; DP:553 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 6 |
2689 | 1085 | CN | TSC2 | likely | deletion | deletion | NM_000548 | chr16:2124295.0 | CN:0 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 15 | |
2690 | 1085 | SV | KDM5C | likely | point | R179H | 179 | NM_004187 | chrX:53246446 | AF:1; DP:177 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 15 |
2691 | 1086 | RE | EWSR1 | likely | rearrangement | EWSR1-ERG fusion | none | chr22:29683056 | SR:428 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 17 | |
2692 | 1087 | SV | ALK | likely | point | R1275Q | 1275 | NM_004304 | chr2:29432664 | AF:0.25; DP:457 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 0 |
2693 | 1088 | SV | BRAF | likely | point | V600E | 600 | NM_004333 | chr7:140453136 | AF:0.17; DP:464 | PEDIATRIC | F | CARCINOMA | Thyroid | v5 | 17 |
2694 | 1088 | SV | TET2 | likely | truncation | Q591* | 591 | NM_001127208 | chr4:106156870 | AF:0.1; DP:590 | PEDIATRIC | F | CARCINOMA | Thyroid | v5 | 17 |
2695 | 1089 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:429 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 9 | |
2696 | 1090 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:159 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 6 | |
2697 | 1090 | CN | RPTOR | likely | amplification | amplification | NM_020761 | chr17:78862231.0 | CN:20 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 6 | |
2698 | 1090 | CN | C17orf39 | likely | amplification | amplification | NM_024052 | chr17:17959863.0 | CN:25 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 6 | |
2699 | 1090 | SV | TP53 | likely | truncation | C229fs*10 | 229 | NM_000546 | chr17:7577594 | AF:0.88; DP:203 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 6 |
2700 | 1090 | SV | LRP1B | likely | point | R4166C | 4166 | NM_018557 | chr2:141081480 | AF:0.02; DP:595 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 6 |
2701 | 1090 | SV | PTEN | likely | truncation | C211* | 211 | NM_000314 | chr10:89712015 | AF:0.22; DP:399 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 6 |
2702 | 1090 | SV | ERBB2 | likely | point | R970W | 970 | NM_004448 | chr17:37882850 | AF:0.96; DP:255 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 6 |
2703 | 1091 | CN | RB1 | likely | deletion | deletion | NM_000321 | chr13:48953758.0 | CN:0 | PEDIATRIC | F | CARCINOMA | Adrenal | v5 | 5 | |
2704 | 1091 | CN | KDM6A | likely | deletion | deletion | NM_021140 | chrX:44921942.0 | CN:0 | PEDIATRIC | F | CARCINOMA | Adrenal | v5 | 5 | |
2705 | 1091 | CN | ATRX | likely | deletion | deletion | NM_000489 | chrX:76889127.0 | CN:0 | PEDIATRIC | F | CARCINOMA | Adrenal | v5 | 5 | |
2706 | 1091 | SV | TP53 | likely | point | R248Q | 248 | NM_000546 | chr17:7577538 | AF:0.87; DP:517 | PEDIATRIC | F | CARCINOMA | Adrenal | v5 | 5 |
2707 | 1092 | SV | BRCA2 | likely | point | R1190W | 1190 | NM_000059 | chr13:32912060 | AF:0.48; DP:576 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 4 |
2708 | 1094 | SV | BCL10 | likely | point | T229S | 229 | NM_003921 | chr1:85733327 | AF:0.5; DP:490 | PEDIATRIC | F | HEME | ALL | v4 | 1 |
2709 | 1094 | SV | KRAS | likely | point | G12D | 12 | NM_004985 | chr12:25398284 | AF:0.06; DP:434 | PEDIATRIC | F | HEME | ALL | v4 | 1 |
2710 | 1094 | SV | FLT3 | likely | point | I836del | 836 | NM_004119 | chr13:28592636 | AF:0.09; DP:476 | PEDIATRIC | F | HEME | ALL | v4 | 1 |
2711 | 1094 | SV | NRAS | likely | point | G12D | 12 | NM_002524 | chr1:115258747 | AF:0.04; DP:552 | PEDIATRIC | F | HEME | ALL | v4 | 1 |
2712 | 1095 | SV | H3F3A | likely | point | K28M | 28 | NM_002107 | chr1:226252135 | AF:0.37; DP:402 | PEDIATRIC | F | BRAIN | Glioma | v5 | 7 |
2713 | 1095 | SV | ASXL1 | likely | truncation | G646fs*12 | 646 | NM_015338 | chr20:31022449 | AF:0.23; DP:441 | PEDIATRIC | F | BRAIN | Glioma | v5 | 7 |
2714 | 1095 | SV | PIK3CA | likely | point | H1047R | 1047 | NM_006218 | chr3:178952085 | AF:0.29; DP:440 | PEDIATRIC | F | BRAIN | Glioma | v5 | 7 |
2715 | 1095 | SV | TP53 | likely | point | R342P | 342 | NM_000546 | chr17:7574002 | AF:0.4; DP:445 | PEDIATRIC | F | BRAIN | Glioma | v5 | 7 |
2716 | 1095 | SV | TP53 | likely | point | Y220H | 220 | NM_000546 | chr17:7578191 | AF:0.21; DP:485 | PEDIATRIC | F | BRAIN | Glioma | v5 | 7 |
2717 | 1095 | SV | PDGFRA | likely | point | D842del | 842 | NM_006206 | chr4:55152091 | AF:0.39; DP:449 | PEDIATRIC | F | BRAIN | Glioma | v5 | 7 |
2718 | 1096 | SV | PDGFRA | likely | point | A491T | 491 | NM_006206 | chr4:55139810 | AF:0.55; DP:931 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 10 |
2719 | 1096 | SV | NF1 | likely | truncation | splice site 2251+1G>A | NM_001042492 | chr17:29553703 | AF:0.1; DP:471 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 10 | |
2720 | 1096 | SV | NF1 | likely | truncation | splice site 3708+1G>A | NM_001042492 | chr17:29560232 | AF:0.61; DP:525 | PEDIATRIC | M | BRAIN | Astrocytoma | v5 | 10 | |
2721 | 1097 | RE | CIC | likely | rearrangement | CIC-DUX4 fusion | none | chr19:42799220 | SR:40 | PEDIATRIC | F | SARCOMA | Ewing | v4 | 17 | |
2722 | 1099 | SV | BRAF | likely | point | V600E | 600 | NM_004333 | chr7:140453136 | AF:0.32; DP:649 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 12 |
2723 | 1100 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:82 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 2 | |
2724 | 1100 | SV | SRC | likely | truncation | Y530* | 530 | NM_005417 | chr20:36031761 | AF:0.43; DP:253 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 2 |
2725 | 1101 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:36 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 5 | |
2726 | 1102 | SV | CDKN1B | likely | truncation | P122fs*24 | 122 | NM_004064 | chr12:12871135 | AF:0.09; DP:580 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 14 |
2727 | 1102 | SV | MDM4 | likely | point | S367L | 367 | NM_002393 | chr1:204518437 | AF:0.43; DP:762 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 14 |
2728 | 1102 | SV | FAT3 | likely | point | A3348V | 3348 | NM_001008781 | chr11:92568207 | AF:0.37; DP:304 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 14 |
2729 | 1103 | SV | EZH2 | likely | point | G159R | 159 | NM_004456 | chr7:148526829 | AF:0.02; DP:479 | PEDIATRIC | M | HEME | ALL | v4 | 9 |
2730 | 1103 | SV | PHF6 | likely | truncation | L142* | 142 | NM_032458 | chrX:133547527 | AF:0.78; DP:287 | PEDIATRIC | M | HEME | ALL | v4 | 9 |
2731 | 1104 | RE | BCR | likely | rearrangement | BCR-ABL1 fusion | none | chr22:23634363 | SR:276 | PEDIATRIC | F | HEME | MDS and/or MPN | v4 | 10 | |
2732 | 1105 | RE | EWSR1 | likely | rearrangement | EWSR1-WT1 fusion | none | chr22:29684740 | SR:554 | PEDIATRIC | M | SARCOMA | DSRC | v4 | 6 | |
2733 | 1106 | SV | ICK | likely | truncation | splice site 831+2_831+2delT | NM_016513 | chr6:52880878 | AF:0.42; DP:500 | PEDIATRIC | M | HEME | Histiocytic neoplasm | v4 | 6 | |
2734 | 1107 | SV | ALK | likely | point | F1174V | 1174 | NM_004304 | chr2:29443697 | AF:0.34; DP:514 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 3 |
2735 | 1107 | SV | TSC2 | likely | point | A607T | 607 | NM_000548 | chr16:2120559 | AF:0.51; DP:418 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 3 |
2736 | 1108 | CN | AURKB | likely | amplification | amplification | NM_004217 | chr17:8110350.0 | CN:6 | PEDIATRIC | M | HEME | AML | v4 | 15 | |
2737 | 1108 | CN | AKT2 | likely | amplification | amplification | NM_001626 | chr19:40744846.0 | CN:6 | PEDIATRIC | M | HEME | AML | v4 | 15 | |
2738 | 1108 | SV | PASK | likely | truncation | P284fs*28 | 284 | NM_015148 | chr2:242077394 | AF:0.46; DP:495 | PEDIATRIC | M | HEME | AML | v4 | 15 |
2739 | 1108 | SV | TP53 | likely | truncation | F109fs*14 | 109 | NM_000546 | chr17:7579362 | AF:0.72; DP:344 | PEDIATRIC | M | HEME | AML | v4 | 15 |
2740 | 1109 | SV | CD36 | likely | truncation | N53fs*24 | 53 | NM_000072 | chr7:80285892 | AF:0.47; DP:637 | PEDIATRIC | F | SARCOMA | Soft tissue assorted | v4 | 17 |
2741 | 1109 | SV | MALT1 | likely | truncation | D511fs*27 | 511 | NM_173844 | chr18:56402523 | AF:0.3; DP:414 | PEDIATRIC | F | SARCOMA | Soft tissue assorted | v4 | 17 |
2742 | 1110 | CN | NF1 | likely | deletion | deletion | NM_001042492 | chr17:29576069.0 | CN:0 | PEDIATRIC | F | SARCOMA | RMS | v4 | 3 | |
2743 | 1110 | CN | TP53 | likely | deletion | deletion | NM_000546 | chr17:7577322.0 | CN:0 | PEDIATRIC | F | SARCOMA | RMS | v4 | 3 | |
2744 | 1110 | SV | ARID1A | likely | truncation | splice site 2879-2A>T | NM_006015 | chr1:27092946 | AF:0.26; DP:687 | PEDIATRIC | F | SARCOMA | RMS | v4 | 3 | |
2745 | 1110 | SV | TP53 | likely | point | A138P | 138 | NM_000546 | chr17:7578518 | AF:0.05; DP:398 | PEDIATRIC | F | SARCOMA | RMS | v4 | 3 |
2746 | 1110 | SV | TP53 | likely | point | C141S | 141 | NM_000546 | chr17:7578508 | AF:0.02; DP:420 | PEDIATRIC | F | SARCOMA | RMS | v4 | 3 |
2747 | 1111 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | HEME | Leukemia (NOS) | v4 | 4 | |
2748 | 1111 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | HEME | Leukemia (NOS) | v4 | 4 | |
2749 | 1111 | RE | PBX1 | likely | rearrangement | PBX1-TCF3 fusion | none | chr1:164761759 | SR:5014 | PEDIATRIC | F | HEME | Leukemia (NOS) | v4 | 4 | |
2750 | 1111 | SV | PLCG2 | likely | point | S16R | 16 | NM_002661 | chr16:81819642 | AF:0.56; DP:624 | PEDIATRIC | F | HEME | Leukemia (NOS) | v4 | 4 |
2751 | 1111 | SV | IKZF3 | likely | truncation | M134fs*124 | 134 | NM_012481 | chr17:37948943 | AF:0.32; DP:611 | PEDIATRIC | F | HEME | Leukemia (NOS) | v4 | 4 |
2752 | 1112 | RE | TP53 | likely | rearrangement | TP53-SLCO3A1 rearrangement | none | chr17:7578228 | SR:11 | PEDIATRIC | M | SARCOMA | Bone sarcoma | v4 | 16 | |
2753 | 1113 | SV | GNAS | likely | point | R246C | 246 | NM_001077490 | chr20:57429243 | AF:0.37; DP:559 | PEDIATRIC | M | CARCINOMA | FLO | v5 | 16 |
2754 | 1114 | SV | CD36 | likely | truncation | E101* | 101 | NM_000072 | chr7:80290398 | AF:0.49; DP:610 | PEDIATRIC | F | SARCOMA | Angiosarcoma | v4 | 13 |
2755 | 1115 | SV | ATM | likely | truncation | E1072* | 1072 | NM_000051 | chr11:108143509 | AF:0.68; DP:244 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v4 | 7 |
2756 | 1118 | SV | WT1 | likely | truncation | splice site 646+1G>C | NM_024426 | chr11:32456245 | AF:0.3; DP:829 | PEDIATRIC | M | HEME | AML | v4 | 17 | |
2757 | 1119 | SV | NF1 | likely | truncation | R1306* | 1306 | NM_001042492 | chr17:29562981 | AF:0.16; DP:681 | PEDIATRIC | M | BRAIN | Glioma | v5 | 12 |
2758 | 1119 | SV | TP53 | likely | truncation | K382fs*13+ | 382 | NM_000546 | chr17:7572967 | AF:0.15; DP:499 | PEDIATRIC | M | BRAIN | Glioma | v5 | 12 |
2759 | 1119 | SV | NF2 | likely | truncation | R341* | 341 | NM_000268 | chr22:30067836 | AF:0.03; DP:637 | PEDIATRIC | M | BRAIN | Glioma | v5 | 12 |
2760 | 1119 | SV | TP53 | likely | point | R273C | 273 | NM_000546 | chr17:7577121 | AF:0.15; DP:1004 | PEDIATRIC | M | BRAIN | Glioma | v5 | 12 |
2761 | 1119 | SV | WT1 | likely | point | R462Q | 462 | NM_024426 | chr11:32413565 | AF:0.02; DP:609 | PEDIATRIC | M | BRAIN | Glioma | v5 | 12 |
2762 | 1119 | SV | PTCH1 | likely | truncation | L39fs*41 | 39 | NM_000264 | chr9:98270535 | AF:0.19; DP:294 | PEDIATRIC | M | BRAIN | Glioma | v5 | 12 |
2763 | 1120 | RE | SS18 | likely | rearrangement | SS18-SSX1 fusion | none | chr18:23612382 | SR:1734 | PEDIATRIC | F | SARCOMA | Synovial | v4 | 18 | |
2764 | 1120 | SV | ARHGAP26 | likely | point | H723R | 723 | NM_015071 | chr5:142586942 | AF:0.5; DP:945 | PEDIATRIC | F | SARCOMA | Synovial | v4 | 18 |
2765 | 1121 | CN | C17orf39 | likely | amplification | amplification | NM_024052 | chr17:17959863.0 | CN:12 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 18 | |
2766 | 1121 | RE | PIK3R1 | likely | truncation | PIK3R1 truncation | none | chr5:67576788 | SR:34 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 18 | |
2767 | 1121 | SV | TP53 | likely | truncation | C229fs*17 | 229 | NM_000546 | chr17:7577592 | AF:0.39; DP:335 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 18 |
2768 | 1123 | RE | EWSR1 | likely | rearrangement | EWSR1-FLI1 fusion | none | chr22:29688124 | SR:94 | PEDIATRIC | F | SARCOMA | Ewing | v4 | 13 | |
2769 | 1123 | SV | STAG2 | likely | truncation | M1175fs*1 | 1175 | NM_006603 | chrX:123227922 | AF:0.4; DP:646 | PEDIATRIC | F | SARCOMA | Ewing | v4 | 13 |
2770 | 1124 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 16 | |
2771 | 1124 | RE | EWSR1 | likely | rearrangement | EWSR1-FLI1 fusion | none | chr22:29683045 | SR:1461 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 16 | |
2772 | 1124 | SV | TSC2 | likely | point | A607T | 607 | NM_000548 | chr16:2120559 | AF:0.54; DP:391 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 16 |
2773 | 1126 | SV | ATRX | likely | truncation | P663fs*10 | 663 | NM_000489 | chrX:76938765 | AF:0.66; DP:430 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 8 |
2774 | 1126 | SV | MYCN | likely | point | P44L | 44 | NM_005378 | chr2:16082317 | AF:0.68; DP:932 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 8 |
2775 | 1128 | SV | NOTCH2 | likely | point | S2222I | 2222 | NM_024408 | chr1:120458680 | AF:0.12; DP:793 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 3 |
2776 | 1129 | CN | KDM5A | likely | amplification | amplification | NM_001042603 | chr12:435474.0 | CN:7 | PEDIATRIC | M | CARCINOMA | Lower GI | v5 | 13 | |
2777 | 1129 | CN | CCND2 | likely | amplification | amplification | NM_001759 | chr12:4388005.0 | CN:7 | PEDIATRIC | M | CARCINOMA | Lower GI | v5 | 13 | |
2778 | 1129 | CN | FGF23 | likely | amplification | amplification | NM_020638 | chr12:4481811.0 | CN:7 | PEDIATRIC | M | CARCINOMA | Lower GI | v5 | 13 | |
2779 | 1129 | CN | FGF6 | likely | amplification | amplification | NM_020996 | chr12:4553350.0 | CN:7 | PEDIATRIC | M | CARCINOMA | Lower GI | v5 | 13 | |
2780 | 1129 | CN | RICTOR | likely | amplification | amplification | NM_152756 | chr5:38960567.0 | CN:10 | PEDIATRIC | M | CARCINOMA | Lower GI | v5 | 13 | |
2781 | 1129 | CN | HGF | likely | amplification | amplification | NM_000601 | chr7:81355269.0 | CN:7 | PEDIATRIC | M | CARCINOMA | Lower GI | v5 | 13 | |
2782 | 1129 | CN | CDK6 | likely | amplification | amplification | NM_001259 | chr7:92300794.0 | CN:10 | PEDIATRIC | M | CARCINOMA | Lower GI | v5 | 13 | |
2783 | 1129 | SV | NOTCH2 | likely | point | A3S | 3 | NM_024408 | chr1:120612014 | AF:0.26; DP:168 | PEDIATRIC | M | CARCINOMA | Lower GI | v5 | 13 |
2784 | 1129 | SV | ATM | likely | truncation | R1466* | 1466 | NM_000051 | chr11:108160488 | AF:0.39; DP:421 | PEDIATRIC | M | CARCINOMA | Lower GI | v5 | 13 |
2785 | 1130 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:6 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 15 | |
2786 | 1130 | RE | EWSR1 | likely | rearrangement | EWSR1-ERG fusion | none | chr22:29683055 | SR:392 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 15 | |
2787 | 1130 | SV | STAG2 | likely | truncation | splice site 2358+1G>C | NM_006603 | chrX:123202507 | AF:0.62; DP:144 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 15 | |
2788 | 1130 | SV | TP53 | likely | point | C275F | 275 | NM_000546 | chr17:7577114 | AF:0.55; DP:468 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 15 |
2789 | 1130 | SV | CCT6B | likely | point | V235I | 235 | NM_006584 | chr17:33269837 | AF:0.22; DP:273 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 15 |
2790 | 1132 | SV | SMAD4 | likely | point | R361C | 361 | NM_005359 | chr18:48591918 | AF:0.21; DP:567 | PEDIATRIC | M | CARCINOMA | Lower GI | v5 | 18 |
2791 | 1132 | SV | TP53 | likely | point | V272M | 272 | NM_000546 | chr17:7577124 | AF:0.2; DP:556 | PEDIATRIC | M | CARCINOMA | Lower GI | v5 | 18 |
2792 | 1133 | CN | PTEN | likely | deletion | deletion | NM_000314 | chr10:89692889.0 | CN:0 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 17 | |
2793 | 1133 | CN | C17orf39 | likely | amplification | amplification | NM_024052 | chr17:17959863.0 | CN:8 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 17 | |
2794 | 1133 | SV | RB1 | likely | truncation | splice site 539+1G>A | NM_000321 | chr13:48922000 | AF:0.62; DP:400 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 17 | |
2795 | 1133 | SV | TP53 | likely | truncation | R342* | 342 | NM_000546 | chr17:7574003 | AF:0.86; DP:257 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 17 |
2796 | 1134 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | HEME | ALL | v4 | 18 | |
2797 | 1134 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | HEME | ALL | v4 | 18 | |
2798 | 1134 | CN | ATRX | likely | deletion | deletion | NM_000489 | chrX:76889127.0 | CN:0 | PEDIATRIC | M | HEME | ALL | v4 | 18 | |
2799 | 1134 | RE | EP300 | likely | rearrangement | EP300-ZNF384 fusion | none | chr22:41527536 | SR:909 | PEDIATRIC | M | HEME | ALL | v4 | 18 | |
2800 | 1134 | SV | NF1 | likely | truncation | I679fs*21 | 679 | NM_001042492 | chr17:29553484 | AF:0.39; DP:250 | PEDIATRIC | M | HEME | ALL | v4 | 18 |
2801 | 1134 | SV | KDM6A | likely | truncation | V1113fs*40 | 1113 | NM_021140 | chrX:44942756 | AF:0.56; DP:273 | PEDIATRIC | M | HEME | ALL | v4 | 18 |
2802 | 1135 | SV | MLL | likely | point | G3550R | 3550 | NM_005933 | chr11:118377264 | AF:0.49; DP:680 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Wilms tumor | v4 | 4 |
2803 | 1136 | SV | SETBP1 | likely | point | G870C | 870 | NM_015559 | chr18:42531913 | AF:0.41; DP:774 | PEDIATRIC | F | HEME | AML | v4 | 4 |
2804 | 1136 | SV | NF1 | likely | truncation | I679fs*21 | 679 | NM_001042492 | chr17:29553484 | AF:0.63; DP:501 | PEDIATRIC | F | HEME | AML | v4 | 4 |
2805 | 1136 | SV | MSH3 | likely | truncation | Q74fs*9 | 74 | NM_002439 | chr5:79950764 | AF:0.72; DP:150 | PEDIATRIC | F | HEME | AML | v4 | 4 |
2806 | 1139 | CN | CDK4 | likely | amplification | amplification | NM_000075 | chr12:58144493.0 | CN:32 | PEDIATRIC | M | SARCOMA | MPNST | v4 | 10 | |
2807 | 1139 | CN | MDM2 | likely | amplification | amplification | NM_002392 | chr12:69218176.0 | CN:21 | PEDIATRIC | M | SARCOMA | MPNST | v4 | 10 | |
2808 | 1139 | CN | JAK2 | likely | amplification | amplification | NM_004972 | chr9:5073741.0 | CN:27 | PEDIATRIC | M | SARCOMA | MPNST | v4 | 10 | |
2809 | 1139 | CN | CD274 | likely | amplification | amplification | NM_014143 | chr9:5465552.0 | CN:29 | PEDIATRIC | M | SARCOMA | MPNST | v4 | 10 | |
2810 | 1139 | CN | PDCD1LG2 | likely | amplification | amplification | NM_025239 | chr9:5553611.0 | CN:28 | PEDIATRIC | M | SARCOMA | MPNST | v4 | 10 | |
2811 | 1139 | CN | KDM4C | likely | amplification | amplification | NM_001146696 | chr9:6990470.0 | CN:31 | PEDIATRIC | M | SARCOMA | MPNST | v4 | 10 | |
2812 | 1139 | SV | FBXW7 | likely | point | E113del | 113 | NM_033632 | chr4:153332616 | AF:0.35; DP:631 | PEDIATRIC | M | SARCOMA | MPNST | v4 | 10 |
2813 | 1140 | SV | EPHA6 | likely | point | R182C | 182 | NM_001080448 | chr3:96706267 | AF:0.04; DP:704 | PEDIATRIC | F | CARCINOMA | Head and neck | v5 | 12 |
2814 | 1140 | SV | NOTCH2 | likely | truncation | splice site 73+2T>G | NM_024408 | chr1:120611946 | AF:0.09; DP:177 | PEDIATRIC | F | CARCINOMA | Head and neck | v5 | 12 | |
2815 | 1141 | CN | CDK4 | likely | amplification | amplification | NM_000075 | chr12:58144493.0 | CN:32 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 11 | |
2816 | 1141 | CN | FGF19 | likely | amplification | amplification | NM_005117 | chr11:69518080.0 | CN:40 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 11 | |
2817 | 1141 | CN | CCND1 | likely | amplification | amplification | NM_053056 | chr11:69458679.0 | CN:72 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 11 | |
2818 | 1141 | SV | FGFR1 | likely | point | N546K | 546 | NM_023110 | chr8:38274849 | AF:0.11; DP:454 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 11 |
2819 | 1142 | CN | C17orf39 | likely | amplification | amplification | NM_024052 | chr17:17959863.0 | CN:35 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 14 | |
2820 | 1142 | CN | RPTOR | likely | amplification | amplification | NM_020761 | chr17:78862231.0 | CN:8 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 14 | |
2821 | 1142 | SV | TP53 | likely | truncation | C135* | 135 | NM_000546 | chr17:7578525 | AF:0.51; DP:287 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 14 |
2822 | 1143 | RE | NF1 | likely | truncation | NF1 truncation | none | chr17:29562725 | SR:15 | PEDIATRIC | F | SARCOMA | RMS | v4 | 16 | |
2823 | 1143 | RE | TP53 | likely | truncation | TP53 truncation | none | chr17:7578508 | SR:11 | PEDIATRIC | F | SARCOMA | RMS | v4 | 16 | |
2824 | 1143 | SV | RB1 | likely | truncation | N410fs*7 | 410 | NM_000321 | chr13:48951066 | AF:0.18; DP:453 | PEDIATRIC | F | SARCOMA | RMS | v4 | 16 |
2825 | 1144 | SV | MTOR | likely | point | C1483F | 1483 | NM_004958 | chr1:11217230 | AF:0.14; DP:382 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v4 | 13 |
2826 | 1144 | SV | ETS1 | likely | truncation | splice site 403+1G>T | NM_005238 | chr11:128359184 | AF:0.21; DP:372 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Liver hepatoblastoma | v4 | 13 | |
2827 | 1145 | CN | MDM2 | likely | amplification | amplification | NM_002392 | chr12:69218176.0 | CN:10 | PEDIATRIC | M | BRAIN | Glioma | v5 | 15 | |
2828 | 1145 | SV | PTPN11 | likely | point | T507K | 507 | NM_002834 | chr12:112926900 | AF:0.46; DP:371 | PEDIATRIC | M | BRAIN | Glioma | v5 | 15 |
2829 | 1145 | SV | ATRX | likely | truncation | K202* | 202 | NM_000489 | chrX:76940489 | AF:0.67; DP:203 | PEDIATRIC | M | BRAIN | Glioma | v5 | 15 |
2830 | 1145 | SV | H3F3A | likely | point | K28M | 28 | NM_002107 | chr1:226252135 | AF:0.3; DP:331 | PEDIATRIC | M | BRAIN | Glioma | v5 | 15 |
2831 | 1145 | SV | FGFR1 | likely | point | N546K | 546 | NM_023110 | chr8:38274849 | AF:0.28; DP:383 | PEDIATRIC | M | BRAIN | Glioma | v5 | 15 |
2832 | 1146 | CN | FGF19 | likely | amplification | amplification | NM_005117 | chr11:69518080.0 | CN:11 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 1 | |
2833 | 1146 | CN | FGF4 | likely | amplification | amplification | NM_002007 | chr11:69588843.0 | CN:11 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 1 | |
2834 | 1146 | CN | FGF3 | likely | amplification | amplification | NM_005247 | chr11:69631139.0 | CN:11 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 1 | |
2835 | 1146 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:260 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 1 | |
2836 | 1147 | SV | ARID1A | likely | point | Q1334_R1335insQ | 1334 | NM_006015 | chr1:27100205 | AF:0.25; DP:673 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 1 |
2837 | 1149 | SV | FGFR1 | likely | point | K656E | 656 | NM_023110 | chr8:38272308 | AF:0.38; DP:535 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 14 |
2838 | 1150 | RE | APC | likely | rearrangement | APC-N/A rearrangement | none | chr5:112177877 | SR:184 | PEDIATRIC | F | SARCOMA | Fibromatosis | v5 | 1 | |
2839 | 1150 | SV | APC | likely | truncation | K2157fs*12 | 2157 | NM_000038 | chr5:112177761 | AF:0.65; DP:238 | PEDIATRIC | F | SARCOMA | Fibromatosis | v5 | 1 |
2840 | 1152 | RE | MLL | likely | rearrangement | MLL-MLLT10 fusion | none | chr11:118356959 | SR:112 | PEDIATRIC | F | HEME | ALL | v4 | 1 | |
2841 | 1153 | RE | ROS1 | likely | rearrangement | ROS1-TFG fusion | none | chr6:117644517 | SR:8 | PEDIATRIC | F | SARCOMA | IMTs | v4 | 6 | |
2842 | 1154 | CN | PARK2 | likely | deletion | deletion | NM_004562 | chr6:162300633.0 | CN:0 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 7 | |
2843 | 1154 | CN | NF1 | likely | deletion | deletion | NM_001042492 | chr17:29576069.0 | CN:0 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 7 | |
2844 | 1154 | SV | MAP3K13 | likely | truncation | E910* | 910 | NM_004721 | chr3:185198246 | AF:0.48; DP:406 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Wilms tumor | v5 | 7 |
2845 | 1155 | SV | CDK12 | likely | truncation | G396* | 396 | NM_016507 | chr17:37627271 | AF:0.09; DP:759 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 7 |
2846 | 1156 | RE | TFE3 | likely | rearrangement | TFE3-ASPSCR1 fusion | none | chrX:48895586 | SR:80 | PEDIATRIC | M | SARCOMA | ASPS | v4 | 15 | |
2847 | 1157 | RE | MLL | likely | rearrangement | MLL-MLLT3 fusion | none | chr11:118352742 | SR:228 | PEDIATRIC | M | HEME | AML | v4 | 0 | |
2848 | 1157 | SV | MAP3K6 | likely | point | R160Q | 160 | NM_004672 | chr1:27691265 | AF:0.51; DP:492 | PEDIATRIC | M | HEME | AML | v4 | 0 |
2849 | 1158 | SV | NF1 | likely | truncation | R2637* | 2637 | NM_001042492 | chr17:29684326 | AF:0.66; DP:324 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 16 |
2850 | 1158 | SV | H3F3A | likely | point | K28M | 28 | NM_002107 | chr1:226252135 | AF:0.41; DP:310 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 16 |
2851 | 1159 | SV | BCOR | likely | point | D1678_L1679ins30 | NM_017745 | chrX:39911495 | AF:0.32; DP:1209 | PEDIATRIC | F | SARCOMA | Soft tissue (NOS) | v4 | 2 | |
2852 | 1160 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | HEME | ALL | v4 | 2 | |
2853 | 1160 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | HEME | ALL | v4 | 2 | |
2854 | 1160 | SV | KRAS | likely | point | G12A | 12 | NM_004985 | chr12:25398284 | AF:0.3; DP:448 | PEDIATRIC | M | HEME | ALL | v4 | 2 |
2855 | 1160 | SV | ZRSR2 | likely | point | R448_R449insSR | 448 | NM_005089 | chrX:15841259 | AF:0.46; DP:474 | PEDIATRIC | M | HEME | ALL | v4 | 2 |
2856 | 1161 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | HEME | ALL | v4 | 11 | |
2857 | 1161 | RE | DNMT3A | likely | truncation | DNMT3A deletion | none | chr2:25523059 | SR:12 | PEDIATRIC | M | HEME | ALL | v4 | 11 | |
2858 | 1161 | SV | NRAS | likely | point | G13D | 13 | NM_002524 | chr1:115258744 | AF:0.54; DP:464 | PEDIATRIC | M | HEME | ALL | v4 | 11 |
2859 | 1161 | SV | PTPN11 | likely | point | S502P | 502 | NM_002834 | chr12:112926884 | AF:0.02; DP:432 | PEDIATRIC | M | HEME | ALL | v4 | 11 |
2860 | 1161 | SV | PAX5 | likely | point | P80R | 80 | NM_016734 | chr9:37015165 | AF:0.85; DP:262 | PEDIATRIC | M | HEME | ALL | v4 | 11 |
2861 | 1161 | SV | VHL | likely | point | A207V | 207 | NM_000551 | chr3:10191627 | AF:0.45; DP:642 | PEDIATRIC | M | HEME | ALL | v4 | 11 |
2862 | 1161 | SV | CD36 | likely | truncation | N53fs*24 | 53 | NM_000072 | chr7:80285892 | AF:0.49; DP:507 | PEDIATRIC | M | HEME | ALL | v4 | 11 |
2863 | 1163 | CN | CRKL | likely | amplification | amplification | NM_005207 | chr22:21288299.0 | CN:11 | PEDIATRIC | F | SARCOMA | RMS | v4 | 0 | |
2864 | 1163 | CN | MAPK1 | likely | amplification | amplification | NM_002745 | chr22:22148199.0 | CN:13 | PEDIATRIC | F | SARCOMA | RMS | v4 | 0 | |
2865 | 1163 | SV | BRCA2 | likely | truncation | C3198fs*23 | 3198 | NM_000059 | chr13:32971125 | AF:0.05; DP:596 | PEDIATRIC | F | SARCOMA | RMS | v4 | 0 |
2866 | 1163 | SV | TP53 | likely | point | R337G | 337 | NM_000546 | chr17:7574018 | AF:0.92; DP:401 | PEDIATRIC | F | SARCOMA | RMS | v4 | 0 |
2867 | 1163 | SV | NF1 | likely | truncation | T586fs*18 | 586 | NM_001042492 | chr17:29550495 | AF:0.93; DP:361 | PEDIATRIC | F | SARCOMA | RMS | v4 | 0 |
2868 | 1164 | RE | STAG2 | likely | truncation | STAG2 deletion | none | chrX:123211908 | SR:11 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 6 | |
2869 | 1165 | CN | CDK6 | likely | amplification | amplification | NM_001259 | chr7:92300794.0 | CN:15 | PEDIATRIC | F | SARCOMA | RMS | v4 | 1 | |
2870 | 1165 | CN | NF1 | likely | deletion | deletion | NM_001042492 | chr17:29576069.0 | CN:0 | PEDIATRIC | F | SARCOMA | RMS | v4 | 1 | |
2871 | 1165 | SV | TP53 | likely | point | R337C | 337 | NM_000546 | chr17:7574018 | AF:0.91; DP:294 | PEDIATRIC | F | SARCOMA | RMS | v4 | 1 |
2872 | 1165 | SV | ATR | likely | truncation | splice site 3945+1_3945+2insT | NM_001184 | chr3:142253920 | AF:0.47; DP:329 | PEDIATRIC | F | SARCOMA | RMS | v4 | 1 | |
2873 | 1166 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | HEME | ALL | v4 | 14 | |
2874 | 1166 | SV | KRAS | likely | point | G13D | 13 | NM_004985 | chr12:25398281 | AF:0.09; DP:435 | PEDIATRIC | F | HEME | ALL | v4 | 14 |
2875 | 1166 | SV | FBXW7 | likely | point | R479Q | 479 | NM_033632 | chr4:153247366 | AF:0.13; DP:421 | PEDIATRIC | F | HEME | ALL | v4 | 14 |
2876 | 1166 | SV | NOTCH1 | likely | point | I1616N | 1616 | NM_017617 | chr9:139399296 | AF:0.02; DP:342 | PEDIATRIC | F | HEME | ALL | v4 | 14 |
2877 | 1166 | SV | PHF6 | likely | truncation | R274* | 274 | NM_032458 | chrX:133549136 | AF:0.1; DP:508 | PEDIATRIC | F | HEME | ALL | v4 | 14 |
2878 | 1166 | SV | RET | likely | point | A373V | 373 | NM_020975 | chr10:43604533 | AF:0.53; DP:429 | PEDIATRIC | F | HEME | ALL | v4 | 14 |
2879 | 1166 | SV | FBXW7 | likely | truncation | E452fs*48 | 452 | NM_033632 | chr4:153249422 | AF:0.09; DP:499 | PEDIATRIC | F | HEME | ALL | v4 | 14 |
2880 | 1167 | RE | PAX3 | likely | rearrangement | PAX3-FOXO1 fusion | none | chr2:223084965 | SR:758 | PEDIATRIC | F | SARCOMA | RMS | v4 | 16 | |
2881 | 1168 | RE | ETV6 | likely | rearrangement | ETV6-RUNX1 fusion | none | chr12:12030631 | SR:173 | PEDIATRIC | F | HEME | ALL | v4 | 3 | |
2882 | 1168 | RE | TCF3 | likely | rearrangement | TCF3-OAZ1 fusion | none | chr19:1646401 | SR:52 | PEDIATRIC | F | HEME | ALL | v4 | 3 | |
2883 | 1169 | RE | EWSR1 | likely | rearrangement | EWSR1-FLI1 fusion | none | chr22:29684878 | SR:14 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 17 | |
2884 | 1169 | RE | EWSR1 | likely | truncation | EWSR1 truncation | none | chr22:29685104 | SR:12 | PEDIATRIC | M | SARCOMA | Ewing | v4 | 17 | |
2885 | 1170 | RE | ERG | likely | rearrangement | ERG-HNRNPH1 fusion | none | chr21:39755724 | SR:636 | PEDIATRIC | M | HEME | AML | v4 | 15 | |
2886 | 1170 | SV | ICK | likely | truncation | splice site 831+2_831+2delT | NM_016513 | chr6:52880878 | AF:0.14; DP:351 | PEDIATRIC | M | HEME | AML | v4 | 15 | |
2887 | 1171 | RE | RUNX1 | likely | rearrangement | RUNX1-RUNX1T1 fusion | none | chr21:36231822 | SR:2839 | PEDIATRIC | M | HEME | AML | v4 | 14 | |
2888 | 1171 | SV | KIT | likely | point | D816Y | 816 | NM_000222 | chr4:55599320 | AF:0.43; DP:547 | PEDIATRIC | M | HEME | AML | v4 | 14 |
2889 | 1172 | SV | PIK3CA | likely | point | N345K | 345 | NM_006218 | chr3:178921553 | AF:0.02; DP:638 | PEDIATRIC | F | CARCINOMA | Upper GI | v5 | 16 |
2890 | 1172 | SV | PTPRD | likely | point | R1798Q | 1798 | NM_002839 | chr9:8331723 | AF:0.07; DP:470 | PEDIATRIC | F | CARCINOMA | Upper GI | v5 | 16 |
2891 | 1172 | SV | PIK3CA | likely | point | C420R | 420 | NM_006218 | chr3:178927980 | AF:0.02; DP:476 | PEDIATRIC | F | CARCINOMA | Upper GI | v5 | 16 |
2892 | 1172 | SV | APC | likely | truncation | R2166* | 2166 | NM_000038 | chr5:112177787 | AF:0.06; DP:765 | PEDIATRIC | F | CARCINOMA | Upper GI | v5 | 16 |
2893 | 1172 | SV | CDH1 | likely | truncation | splice site 687+2T>G | NM_004360 | chr16:68842753 | AF:0.07; DP:356 | PEDIATRIC | F | CARCINOMA | Upper GI | v5 | 16 | |
2894 | 1173 | CN | CCND2 | likely | amplification | amplification | NM_001759 | chr12:4388005.0 | CN:9 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 18 | |
2895 | 1173 | CN | FGF23 | likely | amplification | amplification | NM_020638 | chr12:4481811.0 | CN:8 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 18 | |
2896 | 1173 | CN | FGF6 | likely | amplification | amplification | NM_020996 | chr12:4553350.0 | CN:8 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 18 | |
2897 | 1173 | CN | CDK4 | likely | amplification | amplification | NM_000075 | chr12:58144493.0 | CN:64 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 18 | |
2898 | 1173 | CN | MDM2 | likely | amplification | amplification | NM_002392 | chr12:69218176.0 | CN:54 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 18 | |
2899 | 1173 | CN | ATRX | likely | deletion | deletion | NM_000489 | chrX:76889127.0 | CN:0 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 18 | |
2900 | 1173 | RE | MLL2 | likely | truncation | MLL2 truncation | none | chr12:49428236 | SR:32 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 18 | |
2901 | 1173 | SV | CCND2 | likely | point | P281R | 281 | NM_001759 | chr12:4409147 | AF:0.28; DP:1373 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 18 |
2902 | 1173 | SV | PIK3CA | likely | point | E542K | 542 | NM_006218 | chr3:178936082 | AF:0.21; DP:459 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 18 |
2903 | 1173 | SV | FGFR1 | likely | point | N546K | 546 | NM_023110 | chr8:38274849 | AF:0.44; DP:580 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 18 |
2904 | 1173 | SV | PIK3CA | likely | point | H1047R | 1047 | NM_006218 | chr3:178952085 | AF:0.01; DP:868 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 18 |
2905 | 1175 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | F | HEME | ALL | v4 | 3 | |
2906 | 1175 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | F | HEME | ALL | v4 | 3 | |
2907 | 1175 | RE | MLL | likely | rearrangement | MLL-MLLT1 fusion | none | chr11:118354981 | SR:3101 | PEDIATRIC | F | HEME | ALL | v4 | 3 | |
2908 | 1175 | SV | SOX10 | likely | point | V340M | 340 | NM_006941 | chr22:38369885 | AF:0.48; DP:448 | PEDIATRIC | F | HEME | ALL | v4 | 3 |
2909 | 1176 | SV | NF1 | likely | truncation | R1509fs*65 | 1509 | NM_001042492 | chr17:29587481 | AF:0.21; DP:403 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 6 |
2910 | 1176 | SV | BARD1 | likely | truncation | E287fs*5 | 287 | NM_000465 | chr2:215645738 | AF:0.38; DP:581 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 6 |
2911 | 1177 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:60 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 2 | |
2912 | 1177 | RE | GATA3 | likely | truncation | GATA3 truncation | none | chr10:8111633 | SR:1557 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 2 | |
2913 | 1178 | SV | EGFR | likely | point | R222C | 222 | NM_005228 | chr7:55220274 | AF:0.02; DP:703 | PEDIATRIC | F | BRAIN | Glioma | v5 | 10 |
2914 | 1178 | SV | KRAS | likely | point | G12V | 12 | NM_004985 | chr12:25398284 | AF:0.24; DP:855 | PEDIATRIC | F | BRAIN | Glioma | v5 | 10 |
2915 | 1178 | SV | FBXW7 | likely | point | R465H | 465 | NM_033632 | chr4:153249384 | AF:0.34; DP:769 | PEDIATRIC | F | BRAIN | Glioma | v5 | 10 |
2916 | 1178 | SV | TERT | likely | point | promoter -124C>T | NM_198253 | chr5:1295228 | AF:0.29; DP:49 | PEDIATRIC | F | BRAIN | Glioma | v5 | 10 | |
2917 | 1178 | SV | BCOR | likely | truncation | R810* | 810 | NM_017745 | chrX:39932171 | AF:0.38; DP:816 | PEDIATRIC | F | BRAIN | Glioma | v5 | 10 |
2918 | 1180 | SV | PIK3CA | likely | point | N345K | 345 | NM_006218 | chr3:178921553 | AF:0.03; DP:502 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 2 |
2919 | 1181 | SV | SMARCA4 | likely | point | P109L | 109 | NM_003072 | chr19:11096052 | AF:0.5; DP:345 | PEDIATRIC | M | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 7 |
2920 | 1182 | CN | RPTOR | likely | amplification | amplification | NM_020761 | chr17:78862231.0 | CN:9 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 7 | |
2921 | 1182 | CN | AKT3 | likely | amplification | amplification | NM_005465 | chr1:243756648.0 | CN:8 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 7 | |
2922 | 1183 | SV | CBL | likely | point | A848T | 848 | NM_005188 | chr11:119170312 | AF:0.46; DP:433 | PEDIATRIC | M | SARCOMA | Hemangioendothelioma | v4 | 18 |
2923 | 1183 | SV | ZRSR2 | likely | point | R448_R449insSR | 448 | NM_005089 | chrX:15841259 | AF:0.45; DP:293 | PEDIATRIC | M | SARCOMA | Hemangioendothelioma | v4 | 18 |
2924 | 1184 | SV | NPM1 | likely | truncation | W288fs*10+ | 288 | NM_002520 | chr5:170837547 | AF:0.37; DP:300 | PEDIATRIC | M | HEME | AML | v4 | 6 |
2925 | 1186 | SV | FAM123B | likely | truncation | S42* | 42 | NM_152424 | chrX:63413042 | AF:0.68; DP:298 | PEDIATRIC | M | CARCINOMA | Unknown | v5 | 15 |
2926 | 1186 | SV | STK11 | likely | truncation | Y60* | 60 | NM_000455 | chr19:1207092 | AF:0.35; DP:660 | PEDIATRIC | M | CARCINOMA | Unknown | v5 | 15 |
2927 | 1187 | SV | MET | likely | point | R1148Q | 1148 | NM_000245 | chr7:116418932 | AF:0.49; DP:921 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 2 |
2928 | 1187 | SV | AR | likely | point | Q58L | 58 | NM_000044 | chrX:66765161 | AF:0.41; DP:356 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 2 |
2929 | 1188 | SV | CDKN2A | likely | point | P75S | 75 | NM_000077 | chr9:21971135 | AF:0.4; DP:376 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 10 |
2930 | 1188 | SV | STAT4 | likely | truncation | W37* | 37 | NM_003151 | chr2:192012820 | AF:0.27; DP:692 | PEDIATRIC | F | EXTRACRANIAL EMBRYONAL | Neuroblastoma | v5 | 10 |
2931 | 1189 | RE | MLL | likely | rearrangement | MLL-MLLT1 fusion | none | chr11:118352768 | SR:267 | PEDIATRIC | M | HEME | ALL | v4 | 1 | |
2932 | 1190 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:9 | PEDIATRIC | F | SARCOMA | RMS | v4 | 5 | |
2933 | 1190 | SV | ARID1A | likely | truncation | L1049fs*55 | 1049 | NM_006015 | chr1:27094437 | AF:0.61; DP:790 | PEDIATRIC | F | SARCOMA | RMS | v4 | 5 |
2934 | 1190 | SV | NRAS | likely | point | Q61K | 61 | NM_002524 | chr1:115256530 | AF:0.6; DP:711 | PEDIATRIC | F | SARCOMA | RMS | v4 | 5 |
2935 | 1191 | SV | TP53 | likely | truncation | R213* | 213 | NM_000546 | chr17:7578212 | AF:0.74; DP:560 | PEDIATRIC | M | SARCOMA | Soft tissue (NOS) | v4 | 7 |
2936 | 1192 | RE | CRLF2 | likely | rearrangement | CRLF2-P2RY8 fusion | none | chrX:1327746 | SR:7854 | PEDIATRIC | M | HEME | ALL | v4 | 16 | |
2937 | 1192 | RE | PAX5 | likely | truncation | PAX5 deletion | none | chr9:36969366 | SR:99 | PEDIATRIC | M | HEME | ALL | v4 | 16 | |
2938 | 1192 | RE | CASP8 | likely | truncation | CASP8 truncation | none | chr2:202137500 | SR:242 | PEDIATRIC | M | HEME | ALL | v4 | 16 | |
2939 | 1192 | SV | CSF3R | likely | point | T618I | 618 | NM_156039 | chr1:36933434 | AF:0.43; DP:1068 | PEDIATRIC | M | HEME | ALL | v4 | 16 |
2940 | 1192 | SV | CASP8 | likely | truncation | splice site 526_646+282del403 | NM_001228 | chr2:202137378 | AF:0.06; DP:576 | PEDIATRIC | M | HEME | ALL | v4 | 16 | |
2941 | 1192 | SV | EP300 | likely | point | A2143T | 2143 | NM_001429 | chr22:41574142 | AF:0.49; DP:971 | PEDIATRIC | M | HEME | ALL | v4 | 16 |
2942 | 1192 | SV | PALB2 | likely | truncation | K353fs*7 | 353 | NM_024675 | chr16:23646812 | AF:0.36; DP:1028 | PEDIATRIC | M | HEME | ALL | v4 | 16 |
2943 | 1193 | SV | AKT3 | likely | point | E17K | 17 | NM_005465 | chr1:243859016 | AF:0.08; DP:772 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 7 |
2944 | 1193 | SV | LZTR1 | likely | truncation | splice site 593+1G>A | NM_006767 | chr22:21343162 | AF:0.48; DP:687 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 7 | |
2945 | 1193 | SV | CTNNB1 | likely | point | S37C | 37 | NM_001904 | chr3:41266113 | AF:0.35; DP:1030 | PEDIATRIC | M | BRAIN | Medulloblastoma | v5 | 7 |
2946 | 1195 | SV | NF1 | likely | truncation | P2717fs*13 | 2717 | NM_001042492 | chr17:29686020 | AF:0.2; DP:617 | PEDIATRIC | M | BRAIN | Ependymoma | v5 | 11 |
2947 | 1195 | SV | CDKN2A | likely | truncation | E88* | 88 | NM_000077 | chr9:21971096 | AF:0.87; DP:242 | PEDIATRIC | M | BRAIN | Ependymoma | v5 | 11 |
2948 | 1196 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:8 | PEDIATRIC | F | HEME | AML | v4 | 13 | |
2949 | 1196 | SV | GRIN2A | likely | point | L246I | 246 | NM_000833 | chr16:10032087 | AF:0.48; DP:1092 | PEDIATRIC | F | HEME | AML | v4 | 13 |
2950 | 1196 | SV | KIT | likely | point | D816H | 816 | NM_000222 | chr4:55599320 | AF:0.5; DP:579 | PEDIATRIC | F | HEME | AML | v4 | 13 |
2951 | 1198 | CN | BCL2L2 | likely | amplification | amplification | NM_004050 | chr14:23777716.0 | CN:25 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 14 | |
2952 | 1198 | CN | C17orf39 | likely | amplification | amplification | NM_024052 | chr17:17959863.0 | CN:21 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 14 | |
2953 | 1198 | CN | MYC | likely | amplification | amplification | NM_002467 | chr8:128750879.0 | CN:52 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 14 | |
2954 | 1198 | RE | NCOR1 | likely | truncation | NCOR1 truncation | none | chr17:15973813 | SR:23 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 14 | |
2955 | 1198 | SV | CDKN2A | likely | truncation | T93fs*24 | 93 | NM_000077 | chr9:21971073 | AF:0.55; DP:354 | PEDIATRIC | F | SARCOMA | Bone sarcoma | v4 | 14 |
2956 | 1199 | CN | BCL2A1 | likely | amplification | amplification | NM_004049 | chr15:80260006.0 | CN:8 | PEDIATRIC | F | BRAIN | PNET | v5 | 14 | |
2957 | 1199 | CN | IGF1R | likely | amplification | amplification | NM_000875 | chr15:99465518.0 | CN:8 | PEDIATRIC | F | BRAIN | PNET | v5 | 14 | |
2958 | 1199 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:77 | PEDIATRIC | F | BRAIN | PNET | v5 | 14 | |
2959 | 1199 | CN | BRAF | likely | amplification | amplification | NM_004333 | chr7:140485129.0 | CN:10 | PEDIATRIC | F | BRAIN | PNET | v5 | 14 | |
2960 | 1199 | SV | BCOR | likely | truncation | splice site 4323_4326+9delTGAGGTGTGTCCC | NM_017745 | chrX:39921382 | AF:0.11; DP:513 | PEDIATRIC | F | BRAIN | PNET | v5 | 14 | |
2961 | 1199 | SV | TP53 | likely | point | G245S | 245 | NM_000546 | chr17:7577548 | AF:0.56; DP:535 | PEDIATRIC | F | BRAIN | PNET | v5 | 14 |
2962 | 1200 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | HEME | ALL | v4 | 12 | |
2963 | 1200 | RE | PAX5 | likely | rearrangement | PAX5-AUTS2 fusion | none | chr9:36882071 | SR:478 | PEDIATRIC | M | HEME | ALL | v4 | 12 | |
2964 | 1200 | SV | NCOR1 | likely | truncation | R68* | 68 | NM_006311 | chr17:16089908 | AF:0.14; DP:630 | PEDIATRIC | M | HEME | ALL | v4 | 12 |
2965 | 1201 | SV | BRAF | likely | point | V600E | 600 | NM_004333 | chr7:140453136 | AF:0.34; DP:795 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 2 |
2966 | 1203 | SV | APC | likely | truncation | K1551fs*13 | 1551 | NM_000038 | chr5:112175942 | AF:0.66; DP:713 | PEDIATRIC | F | SARCOMA | Fibromatosis | v5 | 6 |
2967 | 1204 | CN | ERBB3 | likely | amplification | amplification | NM_001982 | chr12:56488089.0 | CN:6 | PEDIATRIC | F | CARCINOMA | Gyn carcinoma | v5 | 12 | |
2968 | 1204 | CN | ERBB2 | likely | amplification | amplification | NM_004448 | chr17:37872813.0 | CN:5 | PEDIATRIC | F | CARCINOMA | Gyn carcinoma | v5 | 12 | |
2969 | 1204 | CN | ZNF217 | likely | amplification | amplification | NM_006526 | chr20:52194343.0 | CN:9 | PEDIATRIC | F | CARCINOMA | Gyn carcinoma | v5 | 12 | |
2970 | 1204 | RE | NOTCH4 | likely | truncation | NOTCH4 truncation | none | chr6:32187333 | SR:331 | PEDIATRIC | F | CARCINOMA | Gyn carcinoma | v5 | 12 | |
2971 | 1204 | SV | TP53 | likely | point | R181H | 181 | NM_000546 | chr17:7578388 | AF:0.66; DP:859 | PEDIATRIC | F | CARCINOMA | Gyn carcinoma | v5 | 12 |
2972 | 1205 | RE | CREBBP | likely | truncation | CREBBP truncation | none | chr16:3819382 | SR:180 | PEDIATRIC | F | HEME | MLL | v4 | 3 | |
2973 | 1205 | SV | KRAS | likely | point | G12D | 12 | NM_004985 | chr12:25398284 | AF:0.42; DP:609 | PEDIATRIC | F | HEME | MLL | v4 | 3 |
2974 | 1206 | CN | ERBB3 | likely | amplification | amplification | NM_001982 | chr12:56488089.0 | CN:8 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 15 | |
2975 | 1206 | CN | GLI1 | likely | amplification | amplification | NM_005269 | chr12:57859639.0 | CN:8 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 15 | |
2976 | 1206 | CN | CDK4 | likely | amplification | amplification | NM_000075 | chr12:58144493.0 | CN:8 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 15 | |
2977 | 1206 | CN | MYCN | likely | amplification | amplification | NM_005378 | chr2:16084295.0 | CN:333 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 15 | |
2978 | 1206 | CN | PDGFRA | likely | amplification | amplification | NM_006206 | chr4:55139897.0 | CN:77 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 15 | |
2979 | 1206 | RE | SETD2 | likely | rearrangement | SETD2-NBEAL2 rearrangement | none | chr3:47059224 | SR:92 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 15 | |
2980 | 1206 | SV | SETD2 | likely | truncation | Q1466* | 1466 | NM_014159 | chr3:47161730 | AF:0.44; DP:816 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 15 |
2981 | 1206 | SV | TP53 | likely | point | R273H | 273 | NM_000546 | chr17:7577120 | AF:0.89; DP:874 | PEDIATRIC | F | BRAIN | Glioblastoma | v5 | 15 |
2982 | 1207 | SV | CEBPA | likely | truncation | A111fs*59 | 111 | NM_004364 | chr19:33792997 | AF:0.42; DP:133 | PEDIATRIC | M | HEME | AML | v4 | 15 |
2983 | 1207 | SV | IKZF1 | likely | truncation | Q62* | 62 | NM_006060 | chr7:50444254 | AF:0.37; DP:538 | PEDIATRIC | M | HEME | AML | v4 | 15 |
2984 | 1207 | SV | CREBBP | likely | truncation | S318* | 318 | NM_004380 | chr16:3860626 | AF:0.07; DP:503 | PEDIATRIC | M | HEME | AML | v4 | 15 |
2985 | 1207 | SV | PHF6 | likely | truncation | C283fs*10 | 283 | NM_032458 | chrX:133551206 | AF:0.93; DP:343 | PEDIATRIC | M | HEME | AML | v4 | 15 |
2986 | 1208 | RE | ALK | likely | rearrangement | ALK-STRN fusion | none | chr2:29446913 | SR:93 | PEDIATRIC | M | CARCINOMA | Kidney | v5 | 3 | |
2987 | 1209 | SV | CREBBP | likely | point | Q1491K | 1491 | NM_004380 | chr16:3786740 | AF:0.32; DP:896 | PEDIATRIC | F | HEME | ALL | v4 | 11 |
2988 | 1209 | SV | KRAS | likely | point | G13D | 13 | NM_004985 | chr12:25398281 | AF:0.06; DP:617 | PEDIATRIC | F | HEME | ALL | v4 | 11 |
2989 | 1209 | SV | KRAS | likely | point | Q61H | 61 | NM_004985 | chr12:25380275 | AF:0.24; DP:660 | PEDIATRIC | F | HEME | ALL | v4 | 11 |
2990 | 1209 | SV | NRAS | likely | point | Q61R | 61 | NM_002524 | chr1:115256529 | AF:0.04; DP:660 | PEDIATRIC | F | HEME | ALL | v4 | 11 |
2991 | 1210 | CN | NF1 | likely | deletion | deletion | NM_001042492 | chr17:29576069.0 | CN:0 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 8 | |
2992 | 1210 | RE | BRCA1 | likely | truncation | BRCA1 truncation | none | chr17:41275769 | SR:102 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 8 | |
2993 | 1210 | SV | TP53 | likely | point | I195T | 195 | NM_000546 | chr17:7578265 | AF:0.63; DP:667 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 8 |
2994 | 1210 | SV | H3F3A | likely | point | K28M | 28 | NM_002107 | chr1:226252135 | AF:0.45; DP:577 | PEDIATRIC | F | BRAIN | Astrocytoma | v5 | 8 |
2995 | 1211 | RE | NOTCH2 | likely | truncation | NOTCH2 truncation | none | chr1:120465442 | SR:1422 | PEDIATRIC | M | CARCINOMA | Head and neck | v5 | 14 | |
2996 | 1211 | SV | ARID1A | likely | truncation | A165fs*57 | 165 | NM_006015 | chr1:27023382 | AF:0.31; DP:218 | PEDIATRIC | M | CARCINOMA | Head and neck | v5 | 14 |
2997 | 1212 | RE | NUP214 | likely | rearrangement | NUP214-DEK fusion | none | chr9:134034809 | SR:52 | PEDIATRIC | M | HEME | AML | v4 | 15 | |
2998 | 1213 | SV | FLT3 | likely | point | S585_D586insDNEYFYVDFREYG | 585 | NM_004119 | chr13:28608300 | AF:0.33; DP:1242 | PEDIATRIC | M | HEME | ALL | v4 | 12 |
2999 | 1213 | SV | PHF6 | likely | truncation | splice site 716_729+17>CCC | NM_032458 | chrX:133547986 | AF:0.91; DP:224 | PEDIATRIC | M | HEME | ALL | v4 | 12 | |
3000 | 1214 | CN | CDKN2A | likely | deletion | deletion | NM_000077 | chr9:21972841.0 | CN:0 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 | |
3001 | 1214 | CN | CDKN2B | likely | deletion | deletion | NM_004936 | chr9:22007460.0 | CN:0 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 | |
3002 | 1214 | RE | ETV1 | likely | rearrangement | ETV1-DGKB fusion | none | chr7:13981046 | SR:100 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 | |
3003 | 1214 | SV | PIK3C2B | likely | point | Y127C | 127 | NM_002646 | chr1:204438551 | AF:0.51; DP:1021 | PEDIATRIC | M | BRAIN | Glioblastoma | v5 | 7 |
3004 | 1215 | CN | AURKA | likely | amplification | amplification | NM_003600 | chr20:54957334.0 | CN:16 | PEDIATRIC | F | SARCOMA | RMS | v1 | 4 | |
3005 | 1215 | SV | HRAS | likely | point | G13R | 13 | NM_005343 | chr11:534286 | AF:0.89; DP:1303 | PEDIATRIC | F | SARCOMA | RMS | v1 | 4 |
3006 | 1215 | SV | NOTCH1 | likely | truncation | A1742fs*56 | 1742 | NM_017617 | chr9:139396883 | AF:0.1; DP:820 | PEDIATRIC | F | SARCOMA | RMS | v1 | 4 |
3007 | 1215 | SV | NOTCH1 | likely | point | F1736_M1737insMYVAAPPAQLHF | 1736 | NM_017617 | chr9:139396922 | AF:0.36; DP:609 | PEDIATRIC | F | SARCOMA | RMS | v1 | 4 |