Table S2 Major enriched (p < 0.001) categories for genes harbouring single mutations in stop codons

SP_PIR_KEYWORDS

Oxidoreductase

2.03E-05

HSD3B2, DBT, GCDH, MTHFR,

CYP2C19, DHCR7, FMO2, ETFDH,

HGD, PNPO, SRD5A2

GOTERM_BP_FAT

GO:0044271 ~ nitrogen compound biosynthetic process

1.40E-04

MOCS2, OTC, SLC25A38, ATP1A2, ASL,

ATP6V0A4, NPPA, ATP7B, GCH1

GOTERM_BP_FAT

GO:0008015 ~ blood circulation

2.41E-04

MTHFR, COL1A2, SERPING1, CFTR,

ATP1A2, NPPA, GCH1

GOTERM_BP_FAT

GO:0003013 ~ circulatory system process

2.41E-04

MTHFR, COL1A2, SERPING1, CFTR,

ATP1A2, NPPA, GCH1

GOTERM_MF_FAT

GO:0050662 ~ coenzyme binding

2.59E-04

DBT, GCDH, FMO2, ETFDH, PNPO,

CRYM, GCH1

SP_PIR_KEYWORDS

Blood coagulation

4.62E-04

FGB, F8, SERPING1, PROS1

SP_PIR_KEYWORDS

Flavoprotein

5.00E-04

GCDH, MTHFR, FMO2, ETFDH, PNPO

GOTERM_CC_FAT

GO:0031093 ~ platelet alpha granule lumen

6.78E-04

FGB, F8, SERPING1, PROS1

GOTERM_BP_FAT

GO:0006694 ~ steroid biosynthetic process

6.92E-04

HSD3B2, DHCR7, CFTR, SRD5A2,

NR0B1

GOTERM_BP_FAT

GO:0042592 ~ homeostatic Process

7.17E-04

PTHLH, SLC26A4, CTSK, CASR, OTC,

IKBKG, SLC25A38, LIPG, ATP1A2,

ATP6V0A4, RAD50, ATP7B

GOTERM_BP_FAT

GO:0055114 ~ oxidation Reduction

7.76E-04

HSD3B2, GCDH, MTHFR, CYP2C19,

DHCR7, FMO2, ETFDH, F8, HGD,

PNPO, SRD5A2

GOTERM_CC_FAT

GO:0060205 ~ cytoplasmic membrane-bounded vesicle Lumen

8.35E-04

FGB, F8, SERPING1, PROS1

GOTERM_CC_FAT

GO:0031983 ~ vesicle lumen

9.52E-04

FGB, F8, SERPING1, PROS1