Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > Z195/S355 > Z198 > Z46513 > ZS312 > Z262 > M167 > Z264 > BY3266 > BY3265

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
58983143-C-T 56836996-C-T A*
13489366-C-T 11333690-C-T A*
56836176-C-T A*
6244485-C-CCA 6376444-C-CCA IR3_Dst 9×CAA*
28817805-T-A 26671658-T-A A*
13451137-C-T 11295461-C-T A*
13687873-A-G 11532197-A-G A*
19626269-G-A 17514389-G-A P5_Prx A*
19716807-G-A 17604927-G-A P5_Prx A*
19874170-C-T 17762290-C-T P5_Prx A*
22291279-T-A 20129393-T-A DYZ19 A*
26142970-G-A 23996823-G-A P1_Y1 A*
28817132-A-G 26670985-A-G A*
18642952-C-T 16531072-C-T BY45386 YY+
7566674-C-T 7698633-C-T YY+
24480060-G-A 22333913-G-A A2995 Y+
18381590-A-T 16269710-A-T BY121484 P6_Gap +
23468632-G-A 21306746-G-A FT279889 YY+
2702620-A-G 2834579-A-G FT285526 YY+
2980949-TTATC-T 3112908-TTATC-T 5×TATC+
3977020-A-T 4108979-A-T FT285670 +
4366714-G-A 4498673-G-A FT285718 +
4522816-T-G 4654775-T-G FT285734 +
4748841-A-C 4880800-A-C FT285758 +
5093904-C-G 5225863-C-G FT285797 +
5164018-T-G 5295977-T-G FT285803 +
6385046-G-T 6517005-G-T FT285914 +
6401823-T-TTA 6533782-T-TTA +
7697873-A-G 7829832-A-G FT286061 YY+
8504594-G-A 8636553-G-A FT286137 YY+
8622912-C-T 8754871-C-T FT286152 YY+
8789852-T-C 8921811-T-C YY+
9481293-CA-C 9643684-CA-C +
9955257-T-C 10117648-T-C FT373488 Y+
11652419-C-G FT450308 +
14379947-G-A 12259243-G-A FT286316 YY+
14494191-G-A 12382388-G-A YY+
15436671-C-T 13324791-C-T FT286398 YY+
15508252-A-C 13396372-A-C FT286402 YY+
16020536-AT-A 13908656-AT-A 8×T+
16648746-C-T 14536866-C-T FT286515 YY+
16838929-G-T 14727049-G-T FT286536 YY+
16899600-T-A 14787720-T-A FT286546 YY+
17200871-C-T 15088991-C-T FT286578 YY+
17313891-T-C 15202011-T-C FT286585 YY+
17369807-G-A 15257927-G-A FT286592 YY+
18537804-A-G 16425924-A-G FT286702 +
19068418-C-T 16956538-C-T FT286747 YY+
19144297-G-T 17032417-G-T FT286755 YY+
20818970-C-T 18657084-C-T FT291759 P4_Gap +
21668484-G-A 19506598-G-A FT286872 YY+
21711980-T-C 19550094-T-C FT286878 YY+
21800042-T-A 19638156-T-A FT286889 YY+
22465824-C-G 20303938-C-G DYZ19 +
22474669-A-T 20312783-A-T FT459651 DYZ19 +
22478252-A-C 20316366-A-C FT460093 DYZ19 +
22522295-A-C 20360409-A-C FT286945 Y+
22835214-T-G 20673328-T-G FT286970 YY+
23140828-C-T 20978942-C-T FT287006 YY+
23331883-C-T 21169997-C-T YY+
23544902-G-A 21383016-G-A FT287038 YY+
10810652-G-GTTCCATTCCA *
10896293-A-AATTCCATTCC *
28807335-G-A 26661188-G-A FT462434 *
10988855-T-TATTCC *
7664489-TCCCTC-T 7796448-TCCCTC-T 5×CCCTC**
28818154-C-G 26672007-C-G **
13717738-T-G 11562062-T-G **
14517525-C-T 12405726-C-T **
4275711-T-C 4407670-T-C **
5019975-C-T 5151934-C-T **
6062193-G-A 6194152-G-A **
6332657-C-CA 6464616-C-CA IR3_Dst **
13305040-G-A 11149364-G-A **
13360542-T-A 11204866-T-A **
13367141-A-G 11211465-A-G **
13954127-AAATAATAAT-A 11833421-AAATAATAAT-A 12×AAT**
14047901-A-ATATTC 11927195-A-ATATTC **
14182632-A-G 12061926-A-G **
15630623-T-C 13518743-T-C **
16119073-C-T 14007193-C-T P8_Prx **
17633835-A-G 15521955-A-G **
18891058-T-C 16779178-T-C **
19698691-T-A 17586811-T-A P5_Prx **
19950189-T-TGC 17838309-T-TGC P5_Prx **
21321360-C-T 19159474-C-T **
21371586-A-G 19209700-A-G **
22622944-G-T 20461058-G-T **
23050344-T-A 20888458-T-A **
26017077-T-TC 23870930-T-TC P1_Y1 **
26320268-A-C 24174121-A-C P1_Y1 **
26408372-G-T 24262225-G-T P1_Y1 **
28710807-T-C 26564660-T-C **
5644813-GTA-G 5776772-GTA-G ***
17620803-CAAT-C 15508923-CAAT-C 5×AAT***
13944051-CAAAAA-C 11823345-CAAAAA-C 22×A***
2862892-C-CAA 2994851-C-CAA 18×A***
2834161-CA-C 2966120-CA-C 9×A***
23438901-C-T 21277015-C-T FGC31337 ***
3478355-C-CTT 3610314-C-CTT 14×T***
5116137-CA-C 5248096-CA-C 9×A***
14642454-GTTTTTT-G 12530523-GTTTTTT-G 17×T***
13475464-A-T 11319788-A-T ***
2673607-C-CT 2805566-C-CT 10×T***
3344725-AT-A 3476684-AT-A 10×T***
7310571-CTT-C,CT 7442530-CTT-C,CT 21×T***
5102277-CTT-C,CT 5234236-CTT-C,CT 26×T***
9991637-C-CTT 10154028-C-CTT 20×T***
13347932-TAC-T,TACAC 11192256-TAC-T,TACAC 21×AC***
5480908-CTTT-C,CTTTT 5612867-CTTT-C,CTTTT 16×T***
56831941-TC-T ***
3102417-ATTT-A,ATTTT 3234376-ATTT-A,ATTTT 17×T***
3675196-T-C 3807155-T-C ***
4254758-G-A 4386717-G-A ***
4254764-G-A 4386723-G-A ***
4467815-CT-C 4599774-CT-C ***
4735522-A-T 4867481-A-T ***
5465343-T-C 5597302-T-C ***
6460641-A-G 6592600-A-G ***
9402701-G-C 9565092-G-C ***
14047900-C-T 11927194-C-T ***
15477567-G-T 13365687-G-T ***
16503044-C-G 14391164-C-G ***
19378229-A-G 17266349-A-G ***
19499079-C-T 17387199-C-T ***
21952304-T-A 19790418-T-A ***
22193075-A-G 20031189-A-G ***
23829378-A-G 21667492-A-G ***
28717196-GA-G 26571049-GA-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.