Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > Z39589 > DF49/S474 > Z2980 > Z2976 > DF23 > Z2961 > Z2956 > M222 > Z46375 > DF106 > DF104 > DF105 > ZZ87 > A223 > BY3339 > BY11694

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
13464014-A-G 11308338-A-G A*
20629595-G-C 18467709-G-C P4_Prx A****
13449475-C-A 11293799-C-A A*
20567702-A-AT 18405816-A-AT P5_Dst 10×TA*
13464017-C-T 11308341-C-T A*
19715908-T-G 17604028-T-G P5_Prx A*
26075359-A-G 23929212-A-G P1_Y1 A****
26074321-A-G 23928174-A-G P1_Y1 A****
22313679-G-C 20151793-G-C DYZ19 A****
26137855-A-G 23991708-A-G P1_Y1 A****
56836973-C-G A*
16442854-G-A 14330974-G-A BY107814 YY++
8444640-A-C 8576599-A-C BY72820 YY++
3094784-C-T 3226743-C-T +
16613844-A-G 14501964-A-G BY109011 YY++
4994376-T-C 5126335-T-C FT87915 +
8042345-C-A 8174304-C-A BY18141 YY++
17122163-C-A 15010283-C-A FT23247 YY+
22161752-A-G 19999866-A-G BY138085 YY++
17872611-A-G 15760731-A-G BY117983 YY++
21591977-T-C 19430091-T-C BY134037 YY++
8701173-C-T 8833132-C-T BY75281 YY++
13659025-T-C 11503349-T-C BY87347 ++
26067035-G-A 23920888-G-A P1_Y1 ****
10750778-TCATTCCATTC-T *
23004768-T-C 20842882-T-C **
13342508-G-A 11186832-G-A **
13342510-G-A 11186834-G-A **
13468724-G-T 11313048-G-T **
13468740-C-T 11313064-C-T BY210304 **
13473252-G-A 11317576-G-A **
13468745-G-A 11313069-G-A **
13468783-A-T 11313107-A-T **
13480054-C-T 11324378-C-T **
13480087-C-A 11324411-C-A **
16064705-C-T 13952825-C-T **
19340306-CT-C 17228426-CT-C 8×T**
22956009-T-C 20794123-T-C **
19727427-GTT-G 17615547-GTT-G P5_Prx 31×T**
13295781-T-C 11140105-T-C **
13455722-T-A 11300046-T-A **
18095757-A-AAT 15983877-A-AAT **
4332962-A-T 4464921-A-T **
13468772-A-C 11313096-A-C **
13266544-G-A 11110868-G-A **
7939262-G-A 8071221-G-A **
16427311-A-G 14315431-A-G **
13480148-C-G 11324472-C-G **
13480121-A-T 11324445-A-T **
13433831-C-CT 11278155-C-CT **
6750463-T-C 6882422-T-C ***
8479399-C-T 8611358-C-T 18×T***
24385339-A-G 22239192-A-G ***
22191754-G-A 20029868-G-A FGC7890 AM01926 ***
22300545-G-T 20138659-G-T DYZ19 ***
21947028-T-G 19785142-T-G ***
21184568-A-AAAT 19022682-A-AAAT 7×AAT***
16616743-A-G 14504863-A-G ***
14785623-T-A 12673693-T-A ***
17779258-G-T 15667378-G-T ***
17718492-TAG-T 15606612-TAG-T ***
9916709-T-A 10079100-T-A ***
17718484-T-C 15606604-T-C ***
4026253-A-ATT 4158212-A-ATT 18×T***
3949406-CAAAAAA-C 4081365-CAAAAAA-C 20×A***
14294185-C-T 12173479-C-T K201 ***
2688037-A-G 2819996-A-G ***
3114988-ATT-A,AT 3246947-ATT-A,AT 14×T***
56850356-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.

Mutation Notes:

Manual22209038-C-CAAATA20047152-C-CAAATA39 reads total. 37 with the insertion, 2 match the reference sequence.

Age Analysis Information (work in progress)

Kit: 3662861073151877705097846859
Kit: 3662861489704393215448281305
Used in age calculations1489704393215448281305
Counts of SNPs99
Variant counts last updated 2021-10-23 04:46:31.

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