Table S2.
Mutations detected in the CSF or tumor of each patient
Patient | Volume of CSF analyzed (mL) | DNA in CSF (ng) | Sequencing method | Mutation | Location | Gene | Transcript | Protein | cDNA | Mutant allele fraction in tumor (%) | Mutant allele fraction in CSF (%) |
CGLI 02 | 4 | 245 | WES | NM_144631.5 (ZNF513):c.413C > T | Exon | ZNF513 | NM_144631.5 | p.P138L | c.413C > T | 49 | Not detected |
CGLI 03 | 7 | 314 | WES | NM_181523.2 (PIK3R1):c.1690A > G | Exon | PIK3R1 | NM_181523.2 | p.N564D | c.1690A > G | 39 | 0.1 |
CGLI 06 | 8 | 148 | WES | NR_024604.1 (CLCA3P):c.446G > A | Exon | CLCA3P | NR_024604.1 | p.R149Q | c.446G > A | 36 | 0.2 |
CGLI 11 | 5 | 290 | WES | NM_133450.3 (ANKS3):c.1738G > A | Exon | ANKS3 | NM_133450.3 | p.E580K | c.1738G > A | 47 | 0.3 |
CGLI 12 | 5 | 71 | WES | NM_003531.2 (HIST1H3C):c.83T > A | Exon | HIST1H3C | NM_003531.2 | p.K28M | c.83T > A | 44 | 0.2 |
CGLI 13 | 1.5 | 6 | WES | NM_144965.1 (TTC16):c.1016T > A | Exon | TTC16 | NM_144965.1 | p.V339E | c.1016T > A | 48 | 1.0 |
CGLI 14 | 7.5 | 187 | Panel | NM_000546.5 (TP53):c.638G > A | Exon | TP53 | NM_000546.5 | p.R213Q | c.638G > A | 59 | 19.6 |
CGLI 15 | 5 | 482 | WES | NM_004990.3 (MARS):c.1487C > T | Exon | MARS | NM_004990.3 | p.T496I | c.1487C > T | 13 | Not detected |
CGLI 20 | 3 | 127 | WES | NM_198229.2 (RGS12):c.2980C > T | Exon | RGS12 | NM_198229.2 | p.R994W | c.2980C > T | 52 | 52.6 |
CGLI 22 | 5 | 8 | WES | NM_001080522.2 (CC2D2A):c.1938G > A | Exon | CC2D2A | NM_001080522.2 | p.W646X | c.1938G > A | 54 | Not detected |
CGLI 25 | 10 | 253 | WES | NM_001795.3 (CDH5):c.1211G > A | Exon | CDH5 | NM_001795.3 | p.S404N | c.1211G > A | 50 | 0.3 |
CGLI 26 | 7 | 20 | Panel | NM_005896.2 (IDH1):c.394C > T | Exon | IDH1 | NM_005896.2 | p.R132C | c.394C > T | 43 | 0.3 |
CGLI 28 | 1 | 2,361 | Panel | NM_005896.2 (IDH1):c.395G > A | Exon | IDH1 | NM_005896.2 | p.R132H | c.395G > A | 33 | 33.0 |
CGLI 29 | 3.5 | 206 | Panel | NM_000546.5 (TP53):c.742C > T | Exon | TP53 | NM_000546.5 | p.R248W | c.742C > T | 69 | 0.2 |
CGLI 31 | 4 | 1,416 | Panel | NM_198253.2 (TERT):c.1–124C > T | Promoter | TERT | NM_198253.2 | NA | c.1–124C > T | 37 | 8.2 |
CGLI 35 | 2.5 | 432 | Panel | NM_198253.2 (TERT):c.1–124C > T | Promoter | TERT | NM_198253.2 | NA | c.1–124C > T | 46 | 1.4 |
CGLI 36 | 5.5 | 448 | Panel | NM_000546.5 (TP53):c.742C > T | Exon | TP53 | NM_000546.5 | p.R248W | c.742C > T | 65 | 14.3 |
CGLI 39 | 8.5 | 154 | WES | NM_000268.3 (NF2):c.592C > T | Exon | NF2 | NM_000268.3 | p.R198X | c.592C > T | 80 | Not detected |
CGLI 40 | 1.5 | 1,169 | WES | NM_000388.3 (CASR):c.2549C > T | Exon | CASR | NM_000388.3 | p.A850V | c.2549C > T | 45 | 2.8 |
CGLI 41 | 4.25 | 87 | Panel | NM_000546.5 (TP53):c.396G > C | Exon | TP53 | NM_000546.5 | p.K132N | c.396G > C | 43 | 1.4 |
CGLI 42 | 0.75 | 20 | WES | NM_001848.2 (COL6A1):c.1417G > A | Exon | COL6A1 | NM_001848.2 | p.G473R | c.1417G > A | 39 | 0.5 |
CGLI 43 | 4.5 | 100 | WES | NM_000268.3 (NF2):c.1009C > T | Exon | NF2 | NM_000268.3 | p.Q337* | c.1009C > T | 61 | Not detected |
CGLI 44 | 1.5 | 64 | WES | NM_001004439.1 (ITGA11):c.2140C > T | Exon | ITGA11 | NM_001004439.1 | p.R714* | c.2140C > T | 16 | Not detected |
CGLI 47 | 6.8 | 29 | Panel | NM_198253.2 (TERT):c.1–124C > T | Promoter | TERT | NM_198253.2 | NA | c.1–124C > T | 44 | 22.1 |
CGLI 48 | 5 | 1,400 | Panel | NM_198253.2 (TERT):c.1–124C > T | Promoter | TERT | NM_198253.2 | NA | c.1–124C > T | 52 | 1.0 |
CGLI 50 | 5.6 | 820 | Panel | NM_198253.2 (TERT):c.1–124C > T | Promoter | TERT | NM_198253.2 | NA | c.1–124C > T | 47 | 18.8 |
CGLI 51 | 0.75 | 64 | Panel | NM_198253.2 (TERT):c.1–124C > T | Promoter | TERT | NM_198253.2 | NA | c.1–124C > T | 10 | 5.9 |
CGLI 55 | 9 | 146 | WES | NM_000314.4 (PTEN):c.388C > T | Exon | PTEN | NM_000314.4 | p.R130* | c.388C > T | 66 | 33.2 |
CGLI 56 | 6.5 | 1,155 | WES | NM_014691.2 (AQR):c.1746delT | Exon | AQR | NM_014691.2 | p.P582fs | c.1746delT | 39 | 1.8 |
CGLI 58 | 9 | 90 | WES | NM_052853.3 (ADCK2):c.1057T > A | Exon | ADCK2 | NM_052853.3 | p.F353I | c.1057T > A | 23 | Not detected |
CGLI 60 | 8 | 1,335 | WES | NM_004687.4 (MTMR4):c.2110C > G | Exon | MTMR4 | NM_004687.4 | p.L704V | c.2110C > G | 40 | 18.7 |
CGLI 61 | 3 | 99 | WES | NM_001122679.1 (TENM2):c.799G > A | Exon | TENM2 | NM_001122679.1 | p.A267T | c.799G > A | 21 | Not detected |
CGLI 63 | 4 | 411 | WES | NM_000264.3 (PTCH1):c.746+1C > A | Splice site | PTCH1 | NM_000264.3 | NA | c.746+1C > A | 71 | Not detected |
CGLI 101 | 3.5 | 14 | Panel | NM_000546.5 (TP53):c.731G > A | Exon | TP53 | NM_000546.5 | p.G244D | c.731G > A | 36 | 0.9 |
CGLI 254 | 2.5 | 168 | WES | NM_021140.2 (KDM6A):c.4153C > T | Exon | KDM6A | NM_021140.2 | p.Q1385X | c.4153C > T | 91 | 77.3 |
NA, not available; panel, directed sequencing of codons 130–139 of IDH1; codons 126–155, 144–178, and 250–262 of IDH2; all coding exons of TP53; and the TERT promoter (Materials and Methods).