Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > Z193 > Z40483 > CTS2617

Unique Mutations

The mutations unique to this man are summarized in the table below. Those with a '+' or '*' confidence level are considered by FamilyTreeDNA or FullGenomesCorp to be high quality SNPs/INDELs. For completeness, all other mutations of lesser confidence are included as well. These additional mutations may be useful for distinguishing between very closely related men.

Occasionally, some of the mutations listed here will be thought to be shared with other men in which case they might appear in upstream blocks on the tree. When this happens, the 'Blocks' field will indicate what block they appear in. Such a situation might arise with BigY men if the BED data suggests another man may be positive for a SNP, even though it doesn't appear in his VCF data. It might also happen if Chromo2 testing or Sanger sequencing of other men not on the tree show the SNP to be shared.

POS-REF-ALT (hg19) POS-REF-ALT (hg38) Blocks Names Region McDonald BED combBED STRFTDNA
21366240-TCAAA-T 19204354-TCAAA-T b38:6406148-A-G 6×CAAA+
7854949-T-C 7986908-T-C Y46519 YY+
7961870-T-C 8093829-T-C Y46671 YY+
8089438-A-G 8221397-A-G Y46818 YY+
8372647-T-C 8504606-T-C Y47179 YY+
8385772-G-A 8517731-G-A Y47207 YY+
8498853-CTG-C 8630812-CTG-C +
8636740-G-A 8768699-G-A Y47665 YY+
8681571-C-T 8813530-C-T Y16248 YY+
9898196-A-G 10060587-A-G Y48628 Y+
14928150-G-A 12816215-G-A PH1525 YY+
15038134-G-T 12926224-G-T Y50205 YY+
15207741-A-G 13095827-A-G Y16334 YY+
15275697-A-G 13163786-A-G Y50476 YY+
15605891-C-A 13494011-C-A Y50890 YY+
16463773-TG-T 14351893-TG-T +
17206118-G-C 15094238-G-C Y52921 YY+
17385979-A-T 15274099-A-T Y53187 YY+
17493688-T-A 15381808-T-A Y53336 YY+
17579504-T-C 15467624-T-C Y16250 YY+
17789126-C-A 15677246-C-A Y53712 YY+
17847029-A-G 15735149-A-G Y53803 YY+
18070515-T-C 15958635-T-C Y54174 YY+
18248937-A-G 16137057-A-G Y54464 Y+
18656091-G-T 16544211-G-T Y54727 YY+
18730170-G-A 16618290-G-A Y54822 YY+
18984799-G-T 16872919-G-T Y16331 YY+
19081112-T-C 16969232-T-C Y55340 YY+
19094044-G-A 16982164-G-A Y55363 YY+
21174986-T-C 19013100-T-C Y56282 YY+
21188400-G-A 19026514-G-A Y56304 YY+
21547817-G-C 19385931-G-C Y56869 YY+
22271650-C-T 20109764-C-T BY43728 DYZ19 +
23253678-A-G 21091792-A-G Y58943 YY+
23524295-A-G 21362409-A-G Y59288 YY+
23720366-T-C 21558480-T-C +
18975970-C-A 16864090-C-A **
26193212-C-T 24047065-C-T P1_Y1 ***
13803298-G-A 11682592-G-A ***
13803307-CG-C 11682601-CG-C ***
13803311-T-TA 11682605-T-TA ***
13848463-C-T 11727757-C-T ***
13848411-C-T 11727705-C-T FGC42925 ***
13674764-T-A 11519088-T-A ***
58978800-C-G 56832653-C-G ***
23006970-C-A 20845084-C-A CTS11199 ***
13449468-A-G 11293792-A-G ***
13845470-G-A 11724764-G-A Z12774 ***
22286936-G-A 20125050-G-A DYZ19 ***
22297396-A-C 20135510-A-C DYZ19 ***
13650607-T-A 11494931-T-A ***
6106994-CTAATAA-C 6238953-CTAATAA-C ***
6236988-C-T 6368947-C-T IR3_Dst ***
8718128-G-GTT 8850087-G-GTT ***
8718132-T-TTG 8850091-T-TTG 4×TTTG***
8798541-T-TTG 8930500-T-TTG ***
13463808-G-A 11308132-G-A ***
13650608-G-A 11494932-G-A ***
13652087-T-C 11496411-T-C ***
19781754-A-C 17669874-A-C P5_Prx ***
20673111-A-G 18511225-A-G P4_Prx ***
22231798-G-C 20069912-G-C DYZ19 ***
22251658-T-C 20089772-T-C DYZ19 ***
22254219-G-T 20092333-G-T DYZ19 ***
22254585-C-G 20092699-C-G DYZ19 ***
22277424-G-C 20115538-G-C DYZ19 ***
22286639-T-A 20124753-T-A DYZ19 ***
22296854-A-C 20134968-A-C DYZ19 ***
22297419-T-C 20135533-T-C DYZ19 ***
22297422-T-A 20135536-T-A DYZ19 ***
22297430-A-G 20135544-A-G DYZ19 ***
22301326-T-C 20139440-T-C FGC69552 DYZ19 ***
22306546-T-C 20144660-T-C DYZ19 ***
22363654-C-T 20201768-C-T DYZ19 ***
22442899-C-G 20281013-C-G DYZ19 ***
23660236-C-G 21498350-C-G ***
24724866-G-A 22578719-G-A P3_b2 ***
25073156-C-T 22927009-C-T g1 ***
25140508-A-G 22994361-A-G g1 ***
25930219-G-T 23784072-G-T P1_Y1 ***
26708916-T-G 24562769-T-G P1_g2 ***

In the table above, the meaning of the confidence field depends on whether the data comes from an FTDNA kit or an FGC kit. For FTDNA kits, + implies a "PASS" result with just one possible variant, * indicates a "PASS" but with multiple variants, ** indicates "REJECTED" with just a single variant, and *** indicates "REJECTED" with multiple possible variants. 'A*' are heterozygous variants not called by FTDNA, but still pulled from the VCF file. For FGC kits, + indicates over 99% likely genuine (95% for INDELs); * over 95% likely genuine (90% for INDELs); ** about 40% likely genuine; *** about 10% likely genuine. Manual entries read directly from a BAM file will be either + indicating positive, or * indicating that the data show a mixture of possible variants.

For the FTDNA kits, the BED data is encoded in the background color of the cells. Those cells with a white background have coverage, those with a grey background indicate no coverage in the BED file, and those with a pink background indicate the mutation is on the edge of a coverage region. These pink regions often indicate that the individual may be positive for a SNP even if there is no corresponding entry in the vcf file.

The combBED column indicates whether or not the mutation is a SNP and falls in the combBED region defined in Defining a New Rate Constant for Y-Chromosome SNPs based on Full Sequencing Data by Dmitry Adamov, Vladimir Guryanov, Sergey Karzhavin, Vladimir Tagankin, Vadim Urasin.

The McDonald BED column indicates whether or not the mutation is a SNP and falls in the BED region used by Dr. Iain McDonald in the age analysis he does for R-U106 men.

Mutation Notes: