Table 2 Genetic variant phenotypes that correlated with cause of death or anatomical findings. Only correlated clinically relevant pathogenic variants are listed here. All pathogenic variants are listed in Table S3. Blank cells indicate that no correlated COD/anatomical findings were identified for the variant. ^a Student dissection reports for these donors were not available. (Gene names for each variant are found in genetic report (Fig. 2))

272

rs1136743: Serum amyloid A variant

Alzheimer’s dementia

Atrophy in medial temporal lobes – Alzheimer’s Disease

275

rs351855: Cancer progression and tumor cell motility

Multiple myeloma

rs3735819: Congenital heart disease

Larger than normal heart (cardiomegaly). Left side dominant and PFO.

280

rs6446482: Diabetes mellitus, noninsulin-dependent, association with

Colon cancer

281

rs3735819: Congenital heart disease

Heart pathological findings suggest it may be related to cause of death.

Heart was vastly enlarged, and very thick hypertrophied ventricles. Stitches and scars along heart atria suggested surgery and aortic valve replacement. Vertebral artery on the left was abnormally large and the paired artery on the right was small, seemed to disappear around the cervical area

284

rs1566734: Carcinoma of colon

Metastatic lung cancer

Multiple scars and adhesions within the abdomen indicate multiple surgeries, this could be indicative of resections of tumors that eventually metastasized to the lungs as the total blood volume of the body must enter the lungs.

286

rs3735819: Congenital heart disease

Cardiogenic shock, cardiac arrest

• Sutures on aortic arch in two places—saphenous vein graft ×2?

• Large heart, tearing of muscle fibers seen on outside

• Position of grafts indicate ischemia of Rt ventricle

• Heart 75% larger than normal

• Pt does not have rt. auricle

• Circumflex branches at root of aorta

• Cusps for both aortic and pulmonary trunks arranged backwards

293

No variants with correlated COD or anatomic findings

298^a

rs10509305: Preeclampsia/eclampsia 4

Ovarian cancer

303^a

No variants with correlated COD or anatomical findings

306

No variants with correlated COD/findings

311

rs3735819: Congenital heart disease

Cardiac arrest secondary to CAD

Our cadaver’s cause of death was vascular related, so the IVC clamp, which was initially placed to prevent clots, supports vascular etiology of her death.

312

rs351855: Cancer progression and tumor cell motility

Squamous cell lung cancer