Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > L2/S139 > Z41150 > Z49 > A21822 > S8183 > Y4356 > Y4353 > Y4354 > Y4355 > Y17276 > Z8477

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
274295
19996991-T-G 17885111-T-G P5_Prx A+
10682616-C-G A*
4009628-G-T 4141587-G-T A*
56832621-A-T A*
6142575-A-G 6274534-A-G IR3_Dst A*
19621819-C-T 17509939-C-T P5_Prx YA*
22319809-G-C 20157923-G-C DYZ19 A*
25972071-G-A 23825924-G-A P1_Y1 A*
26001679-C-T 23855532-C-T P1_Y1 A*
26167479-C-A 24021332-C-A P1_Y1 A*
22145411-TA-T 19983525-TA-T +
6526975-C-T 6658934-C-T FT8269 +
8573729-A-T 8705688-A-T BZ4458 YY+
7694785-C-T 7826744-C-T BY3630 YY+
5530251-C-A 5662210-C-A FT7948 +
3421101-A-C 3553060-A-C FT7010 +
3471725-G-A 3603684-G-A FT7027 +
3712171-T-A 3844130-T-A FT7143 +
3781588-TGTTA-T 3913547-TGTTA-T +
4071636-C-T 4203595-C-T FT7299 +
6377399-T-G 6509358-T-G FT8207 +
6733821-A-G 6865780-A-G FT8310 YY+
6755476-G-C 6887435-G-C FT8317 YY+
7627630-A-G 7759589-A-G FT8533 YY+
9059905-A-T 9222296-A-T FT8871 Y+
10618461-A-T FT165202 +
10997825-A-G FT165201 +
13897941-C-A 11777235-C-A FT9045 Y+
14024798-G-A 11904092-G-A FT9116 YY+
14868277-T-G 12756347-T-G FT9388 YY+
16340001-A-G 14228121-A-G FT9698 YY+
16812964-C-T 14701084-C-T FT9841 YY+
16899094-G-A 14787214-G-A FT9857 YY+
18804700-T-A 16692820-T-A FT10345 YY+
18804701-C-A 16692821-C-A FT10346 YY+
19421030-G-A 17309150-G-A FT10529 YY+
20066459-C-T 17954579-C-T P5_Gap +
21258965-C-A 19097079-C-A BY198918 YY+
21490257-G-A 19328371-G-A FT10700 YY+
23369234-T-G 21207348-T-G FT11157 YY+
28734110-G-A 26587963-G-A BY4900 Y+
18639-G-T +
22281246-G-A 20119360-G-A BY15103 DYZ19 *
10997311-G-GCATTC *
56870826-A-G *
5073702-A-AATAT 5205661-A-AATAT 10×AT**
19868145-CTTTT-C 17756265-CTTTT-C P5_Prx 31×T**
14134925-CT-C 12014219-CT-C 10×T**
18042951-G-A 15931071-G-A FTA17186 **
3729514-TG-T 3861473-TG-T **
8181174-A-C 8313133-A-C **
9412741-A-T 9575132-A-T **
15683393-T-C 13571513-T-C FT138881 **
15683404-T-C 13571524-T-C **
20754793-T-C 18592907-T-C P4_Prx **
22235744-G-C 20073858-G-C BY188344 DYZ19 **
22480114-C-T 20318228-C-T DYZ19 **
26324307-T-A 24178160-T-A P1_Y1 **
28804011-A-C 26657864-A-C **
16690117-C-CCAT 14578237-C-CCAT 8×CAT***
5178062-CAAAAAAA-C 5310021-CAAAAAAA-C 20×A***
4393592-G-A 4525551-G-A ***
13461028-G-A 11305352-G-A ***
56842186-C-A ***
28680957-A-C 26534810-A-C ***
3115605-A-G 3247564-A-G ***
5278102-G-C 5410061-G-C ***
7532271-T-C 7664230-T-C ***
8008029-A-AC 8139988-A-AC ***
13222128-G-A 11066452-G-A ***
14764914-ATTTT-A,ATTTTTT 12652983-ATTTT-A,ATTTTTT 23×T***
15179010-CAA-C,CA 13067096-CAA-C,CA 25×A***
15296911-G-T 13185010-G-T ***
16505988-CTTTTTT-C,CTTTT 14394108-CTTTTTT-C,CTTTT 31×T***
22691357-A-G 20529471-A-G ***
23290237-A-G 21128351-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.