Tree Position

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

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 STRBigY3
3854457-T-TAC 3986416-T-TAC 12×ACA*
6342369-C-G 6474328-C-G A*
6388684-C-G 6520643-C-G A*
9478144-G-C 9640535-G-C A*
13687022-G-A 11531346-G-A A*
18299171-G-A 16187291-G-A P6_Prx A*
18343825-T-G 16231945-T-G P6_Prx A*
18465270-A-C 16353390-A-C P6_Dst A*
26048396-G-A 23902249-G-A P1_Y1 A*
26242771-T-C 24096624-T-C P1_Y1 A*
28817300-G-C 26671153-G-C A*
56834347-C-G A*
56840269-A-G A*
21366265-A-C 19204379-A-C Z21253S7835 YY+
6914416-A-G 7046375-A-G A14796BY4140 YY+
5634686-G-A 5766645-G-A FT66761 +
10830980-T-A FT433150 +
15179243-A-T 13067329-A-T FT67869 Y+
14485335-A-G 12364604-A-G FT67755 YY+
3344044-T-G 3476003-T-G FT66140 +
4204682-T-C 4336641-T-C FT66389 +
4588911-C-T 4720870-C-T FT66494 +
4808357-G-A 4940316-G-A FT66544 +
5593412-C-G 5725371-C-G FT66753 +
5777500-T-A 5909459-T-A FT66801 +
5884353-G-A 6016312-G-A FT66824 +
7072597-A-G 7204556-A-G FT67055 YY+
7271339-CT-C 7403298-CT-C +
7995669-G-C 8127628-G-C YY+
8488318-G-A 8620277-G-A FT67332 YY+
8591962-C-T 8723921-C-T FT47619 YY+
8770414-C-A 8902373-C-A FT67408 YY+
8834202-C-G 8966161-C-G FT67420 YY+
9786682-T-C 9949073-T-C FT67506 Y+
10009457-C-T 10171848-C-T Y+
13221060-G-A 11065384-G-A +
13832936-T-C 11712230-T-C FT67544 +
13924278-T-C 11803572-T-C FT67577 Y+
14808382-C-A 12696453-C-A FT67819 YY+
15111789-T-C 12999876-T-C FT67855 YY+
15165241-T-C 13053327-T-C FT67865 YY+
15367662-C-G 13255782-C-G FT67897 Y+
16716993-A-G 14605113-A-G FT68144 YY+
17105776-G-A 14993896-G-A FT68227 YY+
17392443-C-G 15280563-C-G FT68286 YY+
17783405-A-G 15671525-A-G FT68375 Y+
18168935-G-A 16057055-G-A FT68459 YY+
18745338-A-G 16633458-A-G BY123583 YY+
18930622-A-G 16818742-A-G FT68573 YY+
19039066-A-C 16927186-A-C FT68596 YY+
19091481-C-A 16979601-C-A FT68616 YY+
19402127-A-G 17290247-A-G FT68690 YY+
20892126-C-T 18730240-C-T FT452851 P4_Dst +
21495901-T-A 19334015-T-A FT68825 Y+
21495902-TA-T 19334016-TA-T +
23148909-C-T 20987023-C-T FT69119 YY+
23566764-G-A 21404878-G-A FT69198 YY+
23800716-T-C 21638830-T-C Y+
28534210-T-A 26388063-T-A FT69322 Y+
28774505-G-A 26628358-G-A +
22277373-G-C 20115487-G-C DYZ19 *
13272030-T-C 11116354-T-C *
13694753-A-G 11539077-A-G *
18612757-GTGTA-G 16500877-GTGTA-G **
5062473-CAAAAAA-C 5194432-CAAAAAA-C 21×A**
9198274-G-A 9360665-G-A **
25617254-G-T 23471107-G-T P1_gr1 **
3503278-C-T 3635237-C-T **
3633950-A-G 3765909-A-G **
4897767-C-G 5029726-C-G **
5784622-A-T 5916581-A-T FTB79136 **
6093478-G-C 6225437-G-C **
7514937-G-T 7646896-G-T **
13623809-A-G 11468133-A-G **
13926495-A-C 11805789-A-C **
18440413-T-TACAC 16328533-T-TACAC P6_Dst 17×AC**
18970845-A-G 16858965-A-G **
20066124-T-C 17954244-T-C P5_Gap **
22475178-A-G 20313292-A-G BY223299 DYZ19 **
24276954-T-G 22130807-T-G P3_b1 **
2707963-T-C 2839922-T-C ***
2903233-T-A 3035192-T-A ***
4489385-A-G 4621344-A-G ***
4816954-AT-A,ATT 4948913-AT-A,ATT 13×T***
6692597-A-G 6824556-A-G ***
6999258-C-T 7131217-C-T ***
7114594-T-C 7246553-T-C ***
7132514-T-A 7264473-T-A ***
8218156-T-C 8350115-T-C ***
14575569-A-G 12463769-A-G ***
14658410-G-A 12546475-G-A ***
14794351-CT-C,CTT 12682422-CT-C,CTT 14×T***
16047900-A-G 13936020-A-G ***
16640227-T-G 14528347-T-G ***
16640231-T-C 14528351-T-C ***
18393086-C-A 16281206-C-A P6_Gap ***
18410098-A-G 16298218-A-G P6_Gap ***
18738676-A-G 16626796-A-G ***

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.