Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > L2/S139 > Z258 > Z367/S255 > L20/S144 > Z46420 > Z291 > BY3569 > Y32043

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
402351
3655216-A-C 3787175-A-C FT354594 A+
20029547-C-T 17917667-C-T P5_Prx A+
13687123-G-T 11531447-G-T DYZ17 A*
28816736-T-G 26670589-T-G A*
17992177-T-A 15880297-T-A P7_Prx YA*
19930918-T-C 17819038-T-C P5_Prx A*
20045330-G-GAA 17933450-G-GAA P5_Prx A*
25857091-G-C 23710944-G-C P1_Y1 A*
25909751-G-C 23763604-G-C P1_Y1 A*
26053261-G-T 23907114-G-T P1_Y1 A*
26304855-A-G 24158708-A-G P1_Y1 A*
26364430-G-C 24218283-G-C P1_Y1 A*
26424016-G-A 24277869-G-A P1_Y1 A*
20213174-TCTTCTCCTTCTC-T 18051288-TCTTCTCCTTCTC-T P5_Dst 6×CTTCTC+
18802520-G-A 16690640-G-A Y86430S2972 YY+
6970443-G-A 7102402-G-A YY+
28582980-G-A 26436833-G-A FT353640 +
2748046-A-G 2880005-A-G FT351548 YY+
2775320-T-G 2907279-T-G FT351552 YY+
3955669-G-A 4087628-G-A FT351726 +
4664611-A-G 4796570-A-G FT351843 +
5686844-G-A 5818803-G-A FT351993 +
6376042-C-A 6508001-C-A FT352065 +
7164013-C-T 7295972-C-T FT352172 YY+
7239666-G-A 7371625-G-A FT352181 Y+
7470300-A-G 7602259-A-G FT352206 IR1_L +
9018080-G-C 9180471-G-C FT352433 Y+
9891416-T-C 10053807-T-C FT352497 YY+
9967638-A-G 10130029-A-G FT369759 FT369904 Y+
10803787-A-C FT369758 +
10980786-C-G +
13315721-C-G 11160045-C-G FT369760 +
15279797-G-A 13167896-G-A FT352721 YY+
15859214-T-C 13747334-T-C FT352797 YY+
16259417-G-C 14147537-G-C FT352833 YY+
16641188-T-C 14529308-T-C BY30697 YY11×A+
16934184-C-G 14822304-C-G FT352923 YY+
17793822-ATATCTATCTATCTATC-A 15681942-ATATCTATCTATCTATC-A 11×TATC+
18103397-G-A 15991517-G-A FT353075 YY+
18182784-C-T 16070904-C-T FT353096 YY+
18662098-T-G 16550218-T-G FT353137 YY+
19243657-G-A 17131777-G-A FT77035 YY+
21584661-C-A 19422775-C-A FT353346 Y+
21928979-A-G 19767093-A-G FT353389 YY+
22473402-C-G 20311516-C-G FT369761 DYZ19 +
22657220-C-T 20495334-C-T FT353453 YY+
23489706-C-G 21327820-C-G FT353555 YY+
24517383-C-T 22371236-C-T FT353625 +
17662010-ATGTGTGTG-A,ATG 15550130-ATGTGTGTG-A,ATG 21×TG*
13449755-ACCC-A 11294079-ACCC-A *
6419046-ATGTGTG-A 6551005-ATGTGTG-A 18×TG*
6402330-C-T 6534289-C-T FTB43087 *
10761260-TTTCCATTCCA-T *
22422598-A-G 20260712-A-G BY45589 DYZ19 *
22476631-T-A 20314745-T-A BY191964 DYZ19 **
22476643-T-G 20314757-T-G BY45509 DYZ19 **
21950089-TATA-T 19788203-TATA-T **
22487576-G-T 20325690-G-T FGC60549FGC60570 DYZ19 **
16593945-CATAT-C 14482065-CATAT-C 11×AT**
13474449-G-A 11318773-G-A **
6992543-T-C 7124502-T-C **
10965-T-C **
16096899-T-A 13985019-T-A P8_Prx **
3984052-A-C 4116011-A-C **
7285339-A-G 7417298-A-G **
7543978-T-C 7675937-T-C **
13359862-C-A 11204186-C-A **
13495838-T-C 11340162-T-C **
14783489-G-C 12671559-G-C **
18082921-T-G 15971041-T-G BY13319 **
19742000-C-A 17630120-C-A P5_Prx **
23286587-A-T 21124701-A-T **
24378926-C-G 22232779-C-G **
24492449-A-G 22346302-A-G **
28748762-G-A 26602615-G-A **
28791576-CA-C 26645429-CA-C **
10955-T-G **
10976-A-G **
10988-T-G **
10997-G-A **
11003-G-C **
5659683-ATG-A 5791642-ATG-A 10×TG***
28597832-A-C 26451685-A-C ***
18630666-C-CTT 16518786-C-CTT 20×T***
9444689-CAA-C 9607080-CAA-C 14×A***
13474433-G-C 11318757-G-C ***
5248619-ATT-A 5380578-ATT-A 19×T***
5203779-TAAAAA-T 5335738-TAAAAA-T 24×A***
5885123-T-TAA 6017082-T-TAA 17×A***
4521322-TAAA-T 4653281-TAAA-T 15×A***
5468681-T-TA 5600640-T-TA 8×A***
14762391-G-T 12650460-G-T ***
22885133-T-A 20723247-T-A FT348770 10×TA***
13474419-G-A 11318743-G-A ***
13474444-C-T 11318768-C-T ***
18608589-C-CAA 16496709-C-CAA 13×A***
22345332-G-T 20183446-G-T DYZ19 ***
6402049-A-C 6534008-A-C ***
24389894-CTTTTT-C,CTTTT 22243747-CTTTTT-C,CTTTT 26×T***
6419174-A-G 6551133-A-G ***
2730092-A-ATTT 2862051-A-ATTT 17×T***
5211575-T-C 5343534-T-C ***
5220159-CTTTTTTT-C,CTTTTTTTT 5352118-CTTTTTTT-C,CTTTTTTTT 21×T***
7270276-CTTTTT-C,CTTTT 7402235-CTTTTT-C,CTTTT 25×T***
7443411-T-C 7575370-T-C ***
15991806-GTTT-G,GTTTTT 13879926-GTTT-G,GTTTTT 24×T***
16819978-T-TA 14708098-T-TA ***
18196490-CAAA-C,CAA 16084610-CAAA-C,CAA 26×A***
19393098-CTTTTTTTT-C 17281218-CTTTTTTTT-C 30×T***
21574503-T-C 19412617-T-C ***
22345407-C-G 20183521-C-G DYZ19 ***
22936288-CTTTTTT-C 20774402-CTTTTTT-C 25×T***
23209995-T-C 21048109-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.