Table S2. Information about the 40 candidate variants.
| Chr | Pos | Ref | Alt | Gene | SIFT | Polyphen-2 | Mutation Taster | FATHMM | Mutant Frequency† | AA change |
|---|---|---|---|---|---|---|---|---|---|---|
| 2 | 100210334 | CG | C | AFF3 | – | – | – | – | 0.04081 | A⇒fs |
| 3 | 195505787 | CGTGA | C | MUC4 | – | – | – | – | 0 | G⇒fs |
| 3 | 195507206 | T | LFB‡ | MUC4 | – | – | – | – | 0 | S⇒fs |
| 3 | 75790783 | G | LFB‡ | ZNF717 | – | – | – | – | 0.08824 | S⇒fs |
| 4 | 4190576 | C | G | OTOP1 | 0 | D | D | T | 0.00002755 | R⇒P |
| 6 | 39869226 | G | T | DAAM2 | 0 | D | D | – | 0.00004980 | R⇒L |
| 6 | 168376882 | G | GT | HGC6.3 | – | – | – | – | 0 | Q⇒fs |
| 6 | 168376880 | T | TG | HGC6.3 | – | – | – | – | 0 | Q⇒fs |
| 6 | 33167055 | G | T | RXRB | 0.01 | D | D | D | 0 | P⇒Q |
| 7 | 143453661 | T | G | CTAGE6 | – | – | – | – | 0 | E⇒A |
| 7 | 100550485 | A | G | MUC3A | – | – | – | – | 0 | S⇒G |
| 7 | 100550486 | G | T | MUC3A | – | – | – | – | 0 | S⇒I |
| 7 | 100550488 | A | T | MUC3A | – | – | – | – | 0 | M⇒L |
| 7 | 100550507 | C | T | MUC3A | – | – | – | – | 0 | T⇒I |
| 7 | 100550570 | T | C | MUC3A | – | – | – | – | 0 | M⇒T |
| 7 | 100550571 | G | C | MUC3A | – | – | – | – | 0 | M⇒I |
| 7 | 100550602 | T | A | MUC3A | – | – | – | – | 0 | S⇒T |
| 7 | 149509455 | C | T | SSPO | – | – | – | – | 0.001 | Q⇒X |
| 8 | 7830694 | C | A | USP17L8 | – | – | – | – | 0 | A⇒S |
| 11 | 99690482 | C | LFB‡ | CNTN5 | – | – | – | – | 0.01393 | F⇒ANX |
| 11 | 35640807 | C | A | FJX1 | 0.01 | D | D | T | 0 | P⇒Q |
| 12 | 112036823 | G | T | ATXN2 | – | P | D | T | 0 | Q⇒K |
| 12 | 58220811 | G | T | CTDSP2 | 0 | D | D | T | 0 | L⇒I |
| 12 | 58220816 | A | G | CTDSP2 | 0 | P | D | T | 0 | I⇒T |
| 12 | 53343231 | G | C | KRT18 | 0 | D | D | D | 0 | A⇒P |
| 12 | 11420391 | LFB‡ | T | PRB3 | – | – | – | – | 0.1654 | P fs |
| 12 | 11420334 | LFB‡ | G | PRB3 | – | – | – | – | 0.1072 | P⇒fs |
| 13 | 78272267 | T | TGG | SLAIN1 | – | – | – | – | 1 | A⇒Q |
| 14 | 20181609 | T | C | OR11H2 | – | – | – | – | 0 | Y⇒C |
| 15 | 28518114 | TC | T | HERC2 | – | – | – | – | 0 | G⇒fs |
| 15 | 22082368 | G | C | POTEB2 | – | – | – | – | 0 | Q⇒E |
| 16 | 70977799 | A | LFB‡ | HYDIN | – | – | – | – | 0 | S⇒fs |
| 16 | 28074466 | C | A | GSG1L | 0 | D | D | T | 0 | D⇒Y |
| 17 | 45234490 | C | LFB‡ | CDC27 | – | – | – | – | 0 | E⇒fs |
| 19 | 55370551 | TGG | T | KIR3DL2 | – | – | – | – | 0 | W⇒fs |
| 19 | 55370554 | C | CAT | KIR3DL2 | – | – | – | – | 0 | P⇒fs |
| 19 | 9006737 | G | A | MUC16 | 0 | D | D | T | 0 | L⇒F |
| 19 | 18279974 | A | G | PIK3R2 | 0 | D | D | D | 0.0002 | Y⇒C |
| 22 | 22989594 | G | C | GGTLC2 | – | – | – | – | 0.0001587 | R⇒P |
| 22 | 22989602 | C | T | GGTLC2 | – | – | – | – | 0 | P⇒S |
†, data from GnomAD (East Asian); LFB‡, large fragment base. Chr, chromosome; Pos, position; Ref, reference sequence base; Alt, alternative base identified; AA change, amino acid changes; D, probably damaging (Polyphen-2) or disease causing (MutationTaster and FATHMM); P, possibly damaging; T, tolerated.