Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > L2/S139

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
833848
6308048-G-A 6440007-G-A IR3_Dst A*
13450650-T-C 11294974-T-C A*
13450671-G-A 11294995-G-A A*
13450742-A-G 11295066-A-G A*
25929216-A-G 23783069-A-G P1_Y1 A*
6155398-C-T 6287357-C-T IR3_Dst A*
6251025-A-C 6382984-A-C IR3_Dst A*
6267869-A-G 6399828-A-G IR3_Dst A*
13451557-G-A 11295881-G-A A*
18372614-T-C 16260734-T-C P6_Prx A*
19853200-A-T 17741320-A-T P5_Prx A*
20041234-C-A 17929354-C-A P5_Prx A*
24280463-C-G 22134316-C-G P3_t1 A*
25617127-A-C 23470980-A-C P1_gr1 A*
26083231-A-G 23937084-A-G P1_Y1 A*
26099067-C-T 23952920-C-T P1_Y1 A*
56833622-C-G A*
9850423-C-A 10012814-C-A Y295 M3497 Z3230 YY+
23961960-C-T 21815813-C-T Y44526 Y+
14339219-G-T 12218514-G-T FT72095 YY+
5343099-G-GT 5475058-G-GT 10×T+
10782031-C-T FT430963 +
14926189-C-T 12814254-C-T FT67836 YY+
8070749-G-A 8202708-G-A YY+
2912998-G-C 3044957-G-C FT71368 YY+
2977139-A-G 3109098-A-G FT71375 +
3351426-G-T 3483385-G-T FT71424 +
3522696-C-T 3654655-C-T FT71442 +
3542938-C-T 3674897-C-T +
3779979-C-T 3911938-C-T FT71467 +
4106398-A-G 4238357-A-G FT71517 +
4238962-T-C 4370921-T-C FT71535 +
4851418-T-C 4983377-T-C FT71607 +
4899517-A-G 5031476-A-G FT71610 +
5699288-A-G 5831247-A-G FT71699 +
5780923-C-T 5912882-C-T FT71711 +
6022012-T-A 6153971-T-A FT71734 +
6611927-AT-A 6743886-AT-A +
6823132-G-GA 6955091-G-GA +
7046888-A-G 7178847-A-G FT71820 YY+
7128431-G-C 7260390-G-C FT71828 YY+
7860007-A-C 7991966-A-C FT71879 YY+
7982218-T-C 8114177-T-C FT71889 YY+
8208063-C-A 8340022-C-A FT71907 YY+
8258252-C-T 8390211-C-T FT71911 YY+
8532226-C-T 8664185-C-T FT71934 YY+
9728188-G-A 9890579-G-A FT71997 IR3_Prx +
13198983-A-G 11043307-A-G FT440598 +
13531886-C-T 11376210-C-T FT97406 +
13809144-G-T 11688438-G-T FT72010 +
13853953-G-A 11733247-G-A FT72022 +
15228750-C-G 13116836-C-G FT72167 Y+
15228754-C-T 13116840-C-T FT72168 Y+
15315749-T-G 13203855-T-G FT72177 YY+
15501267-GCC-G 13389387-GCC-G +
15812463-T-C 13700583-T-C FT72219 YY+
16016671-T-C 13904791-T-C Y+
16047747-T-C 13935867-T-C FT72242 Y+
16408334-T-C 14296454-T-C FT72266 YY+
16813079-A-G 14701199-A-G FT61706 YY+
18086185-C-T 15974305-C-T FT72392 Y+
18088943-A-T 15977063-A-T FT72393 Y+
18426498-C-A 16314618-C-A FT72432 P6_Gap +
18555311-C-T 16443431-C-T FT72433 YY+
19089876-A-G 16977996-A-G FT72486 YY+
19309923-AC-A 17198043-AC-A +
19545445-C-T 17433565-C-T FT72537 YY+
20473344-C-T 18311458-C-T FT452651 P5_Dst +
21343870-A-G 19181984-A-G FT72579 YY+
21707892-A-G 19546006-A-G FT72614 YY+
21982506-A-T 19820620-A-T FT72629 YY+
21984178-T-C 19822292-T-C FT72630 YY+
23012348-G-A 20850462-G-A FT72679 YY+
23140600-C-T 20978714-C-T FT72689 YY+
23861547-C-T 21699661-C-T FT72737 Y+
23953390-T-C 21807243-T-C FT72738 +
24377853-C-T 22231706-C-T FT72744 Y+
28547508-G-A 26401361-G-A FT72762 Y+
21620558-C-T 19458672-C-T BY47235 YY*
13478915-G-A 11323239-G-A S14163 *
14438284-A-G 12317557-A-G Y*
14438299-A-C 12317572-A-C Y*
14438307-A-G 12317580-A-G Y*
19485190-A-AC 17373310-A-AC *
20834080-C-CA 18672194-C-CA P4_Gap *
24387712-A-C 22241565-A-C **
17828086-GT-G 15716206-GT-G 12×T**
7149622-C-CTT 7281581-C-CTT 19×T**
2845221-CAAA-C 2977180-CAAA-C 38×A**
26066360-GT-G 23920213-GT-G P1_Y1 13×T**
22229298-C-G 20067412-C-G DYZ19 **
8740675-G-GT 8872634-G-GT 17×T**
5179535-TATATATAC-T 5311494-TATATATAC-T **
5521429-T-C 5653388-T-C **
6028809-ATTAT-A 6160768-ATTAT-A **
8419901-T-TTTTA 8551860-T-TTTTA 5×TTTA**
13720487-G-A 11564811-G-A **
15228743-A-G 13116829-A-G **
15447056-C-T 13335176-C-T **
16230211-G-T 14118331-G-T **
16665595-G-T 14553715-G-T **
17124483-G-A 15012603-G-A **
22220682-T-A 20058796-T-A DYZ19 **
22228197-A-T 20066311-A-T DYZ19 **
22458463-G-A 20296577-G-A BY21824 DYZ19 **
24521363-TA-T 22375216-TA-T **
28814703-C-A 26668556-C-A **
19093-G-T **
8801321-AAGG-A 8933280-AAGG-A 7×AGG***
16692105-AAG-A 14580225-AAG-A ***
5986654-A-T 6118613-A-T ***
22508488-G-A 20346602-G-A DYZ19 ***
58975043-TTCGAA-T 56828896-TTCGAA-T ***
10653179-C-CAGG ***
9508531-CTTT-C 9670922-CTTT-C 25×T***
10988574-CCATTCCACTC-C,CCACTCTACTG ***
13488649-GT-A,G 11332973-GT-A,G ***
4625715-G-GA 4757674-G-GA 9×A***
13931739-C-CTT 11811033-C-CTT 22×T***
22722112-GA-G 20560226-GA-G 10×A***
5270693-CTTTTT-C 5402652-CTTTTT-C 22×T***
13479210-A-T 11323534-A-T ***
3264132-T-C 3396091-T-C ***
3622966-TTGTG-T,TTG 3754925-TTGTG-T,TTG 17×TG***
3922183-GAA-G 4054142-GAA-G 16×A***
4200055-CA-C,CAA 4332014-CA-C,CAA 23×A***
4650529-A-G 4782488-A-G ***
7424730-A-G 7556689-A-G ***
7964610-T-C 8096569-T-C ***
15049795-G-A 12937886-G-A ***
17624710-C-A 15512830-C-A ***
21589420-T-C 19427534-T-C ***
21620548-TATACTATACC-T 19458662-TATACTATACC-T ***
22419720-T-C 20257834-T-C DYZ19 ***
22622489-A-G 20460603-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.