Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > ZZ10 > Z253

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 STR1kG
13714765-T-G 11559089-T-G +
13375848-T-G 11220172-T-G +
13746363-G-C 11590687-G-C +
13654512-G-A 11498836-G-A FT268547 +
13651363-G-A 11495687-G-A +
13643230-A-T 11487554-A-T +
13509278-G-A 11353602-G-A +
13508556-C-A 11352880-C-A +
13504192-A-T 11348516-A-T +
13489492-G-A 11333816-G-A +
13447458-T-G 11291782-T-G +
13395180-A-G 11239504-A-G +
13394724-C-T 11239048-C-T +
13356003-A-T 11200327-A-T +
14427279-T-G 12306554-T-G M3824 YY+
13275309-G-A 11119633-G-A +
13269594-C-CAAA 11113918-C-CAAA +
13242409-CACCACA-C 11086733-CACCACA-C +
13222416-GCACTGA-G 11066740-GCACTGA-G +
13139023-T-A 10628509-T-A S13527 +
9930095-C-T 10092486-C-T Y+
8804707-C-A 8936666-C-A FT295556 YY+
8391721-G-GT 8523680-G-GT 9×T+
8182223-AC-A 8314182-AC-A +
7518490-T-A 7650449-T-A Y+
6863815-CA-C 6995774-CA-C +
6807678-A-T 6939637-A-T YY+
6597372-T-A 6729331-T-A +
6596487-G-T 6728446-G-T FT265989 +
14339125-TG-T 12218420-TG-T +
15118477-AGC-A 13006564-AGC-A +
6457501-TA-T 6589460-TA-T +
22294790-G-T 20132904-G-T DYZ19 +
28565749-G-A 26419602-G-A +
28539584-TC-T 26393437-TC-T +
26325200-GTA-G 24179053-GTA-G P1_Y1 +
23884675-TAC-T 21722789-TAC-T 8×AC+
23766562-AAC-A 21604676-AAC-A +
23537799-C-T 21375913-C-T BY146047 YY+
22461837-G-A 20299951-G-A DYZ19 +
22446166-C-T 20284280-C-T DYZ19 +
22445981-G-C 20284095-G-C DYZ19 +
22360260-G-GT 20198374-G-GT DYZ19 +
22360201-G-A 20198315-G-A DYZ19 +
22297320-C-A 20135434-C-A DYZ19 +
22297317-C-T 20135431-C-T DYZ19 +
22270967-T-C 20109081-T-C DYZ19 +
15317764-A-T 13205870-A-T Y12710 YY+
22216099-C-A 20054213-C-A Y+
22023701-T-TTTG 19861815-T-TTTG +
22007154-A-C 19845268-A-C YY+
21827603-ATGC-A 19665717-ATGC-A +
21794885-T-G 19632999-T-G Y+
19196778-C-T 17084898-C-T YY+
18337224-G-T 16225344-G-T P6_Prx +
17919882-AG-A 15808002-AG-A +
17846102-G-T 15734222-G-T FT297441 YY+
17299917-GATAC-G 15188037-GATAC-G +
17172142-T-C 15060262-T-C YY+
16739469-T-G 14627589-T-G YY+
15876381-AT-A 13764501-AT-A +
15430061-ATAG-A 13318181-ATAG-A +
6505042-T-C 6637001-T-C Z20999 +
6402737-A-G 6534696-A-G +
13847208-C-G 11726502-C-G +
8422771-A-C 8554730-A-C BY72585 YY+
17879095-G-T 15767215-G-T CTS8205 S3755 YY+
16772087-G-A 14660207-G-A CTS6255 YY+
16315411-A-G 14203531-A-G CTS5491 YY+
15338059-G-C 13226177-G-C S3760 CTS4019 YY+
15337473-A-C 13225591-A-C S3750 CTS4016 YY+
15203337-C-T 13091423-C-T S3756 CTS3817 YY+
14971080-T-C 12859155-T-C CTS3494 YY+
14752855-A-T 12640924-A-T FT296274 YY+
14043705-G-A 11922999-G-A CTS1741 YY+
13958590-A-C 11837884-A-C CTS1539 Y+
9132587-T-G 9294978-T-G Y+
9014390-G-A 9176781-G-A Z14028 Y+
8752374-T-G 8884333-T-G BY75626 YY+
8495853-C-T 8627812-C-T BY73400 YY+
8326778-G-A 8458737-G-A BY71699 YY+
19507701-G-A 17395821-G-A CTS10516 S3754 YY+
7272441-T-C 7404400-T-C S3758 CTS1212 YY+
7101358-T-C 7233317-T-C S3757 CTS947 Y+
6846831-A-G 6978790-A-G CTS561 YY+
2878857-A-G 3010816-A-G CTS295 S3531 YY+
2736407-C-T 2868366-C-T CTS111 S3530 YY+
16940897-T-A 14829017-T-A YY11×A+
14396417-C-A 12275713-C-A FT175198 YY13×A+
7361449-C-A 7493408-C-A YY17×A+
13958598-A-G 11837892-A-G CTS1540 Y+
28796308-G-A 26650161-G-A +
19250722-G-A 17138842-G-A YFS374651 Y19427 YY+
58910951-G-T 56679920-C-A +
9722478-T-C 9884869-T-C IR3_Prx +
17979378-TAC-T 15867498-TAC-T +
17895738-G-A 15783858-G-A CTS8244 S3752 YY+
21765153-T-G 19603267-T-G S3751 YY+
5674390-C-T 5806349-C-T +
3390308-CAG-C 3522267-CAG-C +
5400468-CTTTTT-C 5532427-CTTTTT-C 19×T+
5343078-C-T 5475037-C-T +
5223338-T-C 5355297-T-C +
4997519-C-G 5129478-C-G FT3358 16×AG+
4812509-C-T 4944468-C-T +
4773481-C-T 4905440-C-T 25×T+
4773474-C-T 4905433-C-T +
4640648-A-C 4772607-A-C +
4502856-G-T 4634815-G-T Z8338 +
4370594-T-TAC 4502553-T-TAC 19×AC+
4085113-T-A 4217072-T-A FT265485 +
3721105-T-G 3853064-T-G +
3620188-G-T 3752147-G-T 10×T+
3532344-TG-T 3664303-TG-T +
3177400-C-A 3309359-C-A +
22837016-T-C 20675130-T-C CTS10924 S3753 Y+
3072591-G-A 3204550-G-A +
3072578-T-C 3204537-T-C +
2994612-CG-C 3126571-CG-C +
2738780-T-TTTA 2870739-T-TTTA +
2718876-TC-T 2850835-TC-T +
2685644-C-CTTT 2817603-C-CTTT 20×T+
28790967-T-A 26644820-T-A +
22282084-C-A 20120198-C-A DYZ19 +
13489486-G-T 11333810-G-T +
2987520-T-C 3119479-T-C +
13747513-A-T 11591837-A-T +
22446149-T-C 20284263-T-C DYZ19 +
3916926-T-A 4048885-T-A +
23792441-T-A 21630555-T-A FT299461 Y+
59033175-T-C 56887028-T-C +

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.

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