Distribution of HAS1 GVs on HAS1 exons and introns
| Classification of GVs . | HAS1 gene . | |||||||
|---|---|---|---|---|---|---|---|---|
| Exon 3 . | Intron 3 . | Exon 4 . | Intron 4 . | |||||
| U . | R . | U . | R . | U . | R . | U . | R . | |
| Patients with MM and WM (n = 17) | ||||||||
| Tumor specific | 8 | 2 | 6 | 1 | 0 | 0 | 40 | 4 |
| Hematopoietic origin | 1 | 2 | 0 | 1 | 0 | 2 | 15 | 5 |
| Hematopoietic/germline origin | 9 | 1 | 11 | 2 | 1 | 0 | 26 | 2 |
| Germline origin | 4 | 5 | 9 | 1 | 0 | 0 | 17 | 10 |
| NCBI-SNP | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 8 |
| Total | 22 | 11 | 26 | 8 | 1 | 2 | 98 | 29 |
| Controls (n = 23) | ||||||||
| Tumor specific | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 |
| Hematopoietic origin | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Hematopoietic/germline origin | 2 | 0 | 0 | 0 | 0 | 0 | 5 | 0 |
| Germline origin | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 4 |
| NCBI-SNP | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 8 |
| Total | 2 | 1 | 0 | 3 | 0 | 0 | 6 | 12 |
| Classification of GVs . | HAS1 gene . | |||||||
|---|---|---|---|---|---|---|---|---|
| Exon 3 . | Intron 3 . | Exon 4 . | Intron 4 . | |||||
| U . | R . | U . | R . | U . | R . | U . | R . | |
| Patients with MM and WM (n = 17) | ||||||||
| Tumor specific | 8 | 2 | 6 | 1 | 0 | 0 | 40 | 4 |
| Hematopoietic origin | 1 | 2 | 0 | 1 | 0 | 2 | 15 | 5 |
| Hematopoietic/germline origin | 9 | 1 | 11 | 2 | 1 | 0 | 26 | 2 |
| Germline origin | 4 | 5 | 9 | 1 | 0 | 0 | 17 | 10 |
| NCBI-SNP | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 8 |
| Total | 22 | 11 | 26 | 8 | 1 | 2 | 98 | 29 |
| Controls (n = 23) | ||||||||
| Tumor specific | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 |
| Hematopoietic origin | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Hematopoietic/germline origin | 2 | 0 | 0 | 0 | 0 | 0 | 5 | 0 |
| Germline origin | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 4 |
| NCBI-SNP | 0 | 1 | 0 | 3 | 0 | 0 | 0 | 8 |
| Total | 2 | 1 | 0 | 3 | 0 | 0 | 6 | 12 |
Distribution of unique (U) and recurrent (R) of GVs on HAS1 gene exon 3 to 4 and introns 3 to 4 from patients with MM and WM. We have detected a total of 196 unique and recurrent GVs in 17 patients with MM and WM. Among these GVs, 61 are tumor specific, 26 are hematopoietic origin, 52 are hematopoietic/germline origin, 46 are germline origin, and 11 are NCBI SNPs. Some of the GVs detected in hematopoietic cells were classified as hematopoietic/germline origin because no BECs were available for these patients to confirm germ line or hematopoietic origin. We also detected sporadic substitutions, each in only one subclone from one individual HD, that were not detected in patients with MM or WM and are not reported in the NCBI database.