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
779826
23897180-A-G 21735294-A-G YA+
13462203-C-T 11306527-C-T A*
13698453-A-G 11542777-A-G A*
13449305-C-T 11293629-C-T A*
28816693-G-A 26670546-G-A A*
13448383-C-T 11292707-C-T A*
6319553-A-G 6451512-A-G IR3_Dst A*
6319557-C-T 6451516-C-T IR3_Dst A*
13687421-C-T 11531745-C-T A*
16098630-T-A 13986750-T-A P8_Prx A*
18279680-C-T 16167800-C-T P6_Prx A*
22232578-C-G 20070692-C-G DYZ19 A*
22274703-C-A 20112817-C-A DYZ19 A*
23179034-C-T 21017148-C-T YA*
23721612-A-G 21559726-A-G 5×AGGA*
26328157-T-C 24182010-T-C P1_Y1 A*
26351833-G-C 24205686-G-C P1_Y1 A*
26396479-G-A 24250332-G-A P1_Y1 A*
27565958-C-T 25419811-C-T P1_Y2 A*
28816627-T-A 26670480-T-A A*
28817448-G-A 26671301-G-A A*
28817760-G-A 26671613-G-A A*
56829674-T-C A*
14709298-T-G 12597365-T-G Z1955 M9108 CTS3184 YY+
4654941-T-A 4786900-T-A FT927 11×A+
6822682-C-T 6954641-C-T CTS522 YY+
10678683-C-A FT428846 +
10988156-C-T FT439341 +
2984324-C-T 3116283-C-T FT106580 +
3563730-C-T 3695689-C-T FT106679 +
4513283-G-T 4645242-G-T FT106872 +
4757606-C-T 4889565-C-T FT106935 +
4815088-G-A 4947047-G-A FT106948 +
4890522-G-A 5022481-G-A FT106970 +
5148525-A-G 5280484-A-G FT107023 +
5568763-G-C 5700722-G-C FT107117 +
5964420-A-G 6096379-A-G FT107194 +
6469194-G-T 6601153-G-T FT107243 +
7907673-G-A 8039632-G-A FT107403 YY+
8109693-T-C 8241652-T-C FT107423 YY+
8349179-T-C 8481138-T-C FT107444 YY+
8431949-T-C 8563908-T-C FT107453 YY+
8981908-G-T 9144299-G-T FT107505 Y+
9796929-C-T 9959320-C-T Y+
10800825-C-T FT431800 +
10874695-C-T FT435017 +
13657758-G-A 11502082-G-A FT447418 +
14067576-C-T 11946870-C-T YY+
14211722-G-A 12091016-G-A FT107631 YY+
14384933-G-A 12264229-G-A FT107658 Y+
14388813-G-A 12268109-G-A FT107662 YY+
14744398-A-G 12632467-A-G FT107714 YY+
15558459-T-C 13446579-T-C FT451961 YY+
15561799-C-T 13449919-C-T FT107788 YY+
15995007-A-T 13883127-A-T FT107837 YY+
16703829-C-G 14591949-C-G FT107908 Y+
16940024-C-A 14828144-C-A FT107930 YY+
17082270-T-C 14970390-T-C FT107939 YY+
17373201-C-T 15261321-C-T FT107973 Y+
17565735-T-C 15453855-T-C FT107992 YY+
17607093-G-A 15495213-G-A FT108000 YY+
18572428-A-T 16460548-A-T FT108093 YY+
18695247-G-T 16583367-G-T FT108109 YY+
18779114-A-G 16667234-A-G YY+
18815361-A-G 16703481-A-G FT108122 YY+
18843905-G-A 16732025-G-A FT108125 YY+
21489610-C-T 19327724-C-T FT108270 YY+
21907189-G-A 19745303-G-A FT108324 YY+
22444304-CT-C 20282418-CT-C DYZ19 +
22584640-T-C 20422754-T-C FT108372 YY+
22904955-G-C 20743069-G-C FT108399 YY+
23000930-A-C 20839044-A-C FT108407 YY+
23153690-G-A 20991804-G-A YY+
23598368-G-A 21436482-G-A FT108459 YY+
23628234-G-A 21466348-G-A FT108462 YY+
23819604-T-C 21657718-T-C Y+
28716130-A-T 26569983-A-T FT108550 +
28744699-C-G 26598552-C-G FT108561 +
19371753-T-TAC 17259873-T-TAC 9×AC*
14834298-T-TAC 12722365-T-TAC 9×AC*
11015866-ACCATTCCATT-A *
56875118-G-A *
6612904-G-A 6744863-G-A *
13840545-A-AGAATGGAATGGAATGGACAC 11719839-A-AGAATGGAATGGAATGGACAC *
19138349-C-A 17026469-C-A FTB42491 11×TA**
22461921-G-T 20300035-G-T FT457862 DYZ19 **
24264738-C-CAA 22118591-C-CAA P3_b1 **
21861933-A-G 19700047-A-G **
22341120-T-G 20179234-T-G DYZ19 **
13466090-A-C 11310414-A-C **
14938127-C-T 12826202-C-T **
22287658-C-T 20125772-C-T DYZ19 **
27763101-AT-A 25616954-AT-A P1_Y2 **
7294890-A-T 7426849-A-T **
27763108-T-TA 25616961-T-TA P1_Y2 **
3706732-T-G 3838691-T-G **
4369342-T-A 4501301-T-A **
7460202-G-A 7592161-G-A BY184336 IR1_L **
13711654-G-T 11555978-G-T **
15888355-T-C 13776475-T-C **
15891120-C-T 13779240-C-T **
16995415-A-G 14883535-A-G **
16996682-T-C 14884802-T-C **
16996690-C-T 14884810-C-T **
18309162-CT-C 16197282-CT-C P6_Prx 13×T**
19326969-C-A 17215089-C-A **
20483326-T-TC 18321440-T-TC P5_Dst **
20613159-AAAC-A 18451273-AAAC-A P4_Prx 7×AAC**
22757705-T-C 20595819-T-C **
28055034-TTG-T 25908887-TTG-T P1_Y2 **
23176810-AG-A 21014924-AG-A ***
4880709-G-GTT 5012668-G-GTT 22×T***
18263856-CAAAAA-C 16151976-CAAAAA-C 26×A***
13446652-CTTTACTCCAG-C 11290976-CTTTACTCCAG-C ***
21934980-ATT-A,AT 19773094-ATT-A,AT 17×T***
16767153-CTT-C,CT 14655273-CTT-C,CT 17×T***
21919393-CT-C 19757507-CT-C 10×T***
13466083-A-C,G 11310407-A-C,G ***
19275178-C-T 17163298-C-T ***
21091054-CAA-C,CAAA 18929168-CAA-C,CAAA 16×A***
13462162-T-A 11306486-T-A ***
13462169-T-A 11306493-T-A ***
13476617-G-C 11320941-G-C ***
9832673-T-A 9995064-T-A ***
15832216-CTTT-C,CTT 13720336-CTTT-C,CTT 22×T***
21617605-CA-C,CAA 19455719-CA-C,CAA 23×A***
13476560-G-A 11320884-G-A ***
8057196-C-A 8189155-C-A ***
4190336-G-GAA 4322295-G-GAA 9×A***
5682772-CC-C,CA 5814731-CC-C,CA ***
6451964-T-G 6583923-T-G ***
9410637-G-T 9573028-G-T ***
13459147-A-G 11303471-A-G ***
13608647-CAAAA-C,CAAA 11452971-CAAAA-C,CAAA 27×A***
15682992-G-A 13571112-G-A ***
16561402-T-A 14449522-T-A ***
19275175-A-G 17163295-A-G ***
19449009-C-CT,CTT 17337129-C-CT,CTT 13×T***
22279067-A-G 20117181-A-G DYZ19 ***
22551110-AC-A 20389224-AC-A ***

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.