Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > Z39589 > DF41/S524 > Z43690 > S775 > A600

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
7455990-C-A 7587949-C-A IR1_L A****
20018801-C-T 17906921-C-T P5_Prx A****
13687737-G-T 11532061-G-T A*
6261337-C-T 6393296-C-T IR3_Dst A*
25355183-C-T 23209036-C-T P2_r2 A*
56831780-A-T A*
6719450-A-AT 6851409-A-AT ++
7608192-C-T 7740151-C-T BY23501 YY++
7790973-C-A 7922932-C-A BY23521 YY++
8480529-C-G 8612488-C-G BY23585 YY++
9504369-G-A 9666760-G-A ZS3762 ++
9849108-C-T 10011499-C-T Y65294 YY++
9850206-C-A 10012597-C-A Y65297 YY++
9850550-A-G 10012941-A-G Z33916 FGC34112 BY927 YY++
14137796-A-G 12017090-A-G BY23803 YY++
15754252-A-C 13642372-A-C A291 YY++
17184146-G-A 15072266-G-A BY24033 YY++
17846486-T-G 15734606-T-G BY24091 YY++
19103254-C-G 16991374-C-G Y74632 YY++
19220537-A-G 17108657-A-G Y74903 YY++
19234516-G-T 17122636-G-T BY24214 YY++
19368639-C-A 17256759-C-A BY24227 YY++
19368645-T-G 17256765-T-G BY24228 YY++
21111050-C-A 18949164-C-A BY24263 YY++
21149398-G-A 18987512-G-A BY24268 YY++
22577760-C-T 20415874-C-T BY24673 YY++
23187504-A-T 21025618-A-T Y79412 Y+**
23535096-G-T 21373210-G-T BY24766 YY++
23554282-G-A 21392396-G-A Y80072 YY++
23776583-G-A 21614697-G-A Y80336 Y++
25339485-G-C 23193338-G-C BY24865 P2_r1 +
27676297-G-A 25530150-G-A BY24879 P1_Y2 +
17914286-G-GT 15802406-G-GT +
23992217-C-CT 21846070-C-CT ++
7033182-G-A 7165141-G-A Y61411 Y+
15745801-G-T 13633921-G-T FT86893 Y+
3338838-G-C 3470797-G-C FT85550 +
3662961-A-G 3794920-A-G FT85659 +
3940189-T-C 4072148-T-C FT85751 +
4555583-A-AATG 4687542-A-AATG +
4731084-C-T 4863043-C-T FT85992 +
7348428-C-T 7480387-C-T FT86576 YY+
7396230-G-A 7528189-G-A BY64942 YY+
9911743-TA-T 10074134-TA-T +
10767407-C-A FT430318 +
13332730-A-T 11177054-A-T FT443055 +
14249016-G-C 12128310-G-C YY+
15285959-T-C 13174058-T-C FT86863 Y+
15932363-C-T 13820483-C-T FT86908 YY+
16057871-C-T 13945991-C-T BY105581 YY+
16588202-T-C 14476322-T-C FT86959 YY+
16620050-G-T 14508170-G-T FT86962 Y+
17238306-T-G 15126426-T-G YY+
21139970-G-T 18978084-G-T FT87197 YY+
21598036-A-G 19436150-A-G FT87252 Y+
22990157-G-A 20828271-G-A FT87316 Y+
23043226-C-T 20881340-C-T YY+
23775588-C-A 21613702-C-A BY147611 Y+
22281012-C-G 20119126-C-G DYZ19 ****
10952259-A-ACATTC *
3380205-G-C 3512164-G-C *
17506532-G-A 15394652-G-A CTS7490 PF5099 **
23470779-CCAAAA-C 21308893-CCAAAA-C *****
4948759-GT-G 5080718-GT-G 9×T**
2789894-C-T 2921853-C-T **
3144194-A-G 3276153-A-G **
3834546-G-A 3966505-G-A **
3873278-T-C 4005237-T-C **
5639048-G-A 5771007-G-A **
7969080-A-T 8101039-A-T **
9913931-T-C 10076322-T-C **
9991082-T-C 10153473-T-C **
14058864-G-A 11938158-G-A **
19746951-C-A 17635071-C-A P5_Prx **
22956280-C-G 20794394-C-G **
23009779-T-C 20847893-T-C BY142291 **
26122876-A-G 23976729-A-G P1_Y1 **
9746006-T-C 9908397-T-C ***
22280101-A-G 20118215-A-G DYZ19 ***
22299191-G-A 20137305-G-A DYZ19 ***
22453526-G-C 20291640-G-C DYZ19 ***
24186562-A-G 22040415-A-G P3_b1 ***
24894898-A-G 22748751-A-G g1 ***
25161919-G-T 23015772-G-T g1 ***
25207234-T-C 23061087-T-C g1 ***
25241051-A-C 23094904-A-C FGC54660 P2_r1 ***
28792646-G-T 26646499-G-T ***
24805932-T-TTTTG 22659785-T-TTTTG P3_b2 6×TTTG***
13476553-T-A,C 11320877-T-A,C ***
18890517-A-G 16778637-A-G ***
26593011-C-T 24446864-C-T P1_g2 ***
15928702-CA-C,CAA 13816822-CA-C,CAA 19×A***
2689617-C-T 2821576-C-T ***
3925853-G-A 4057812-G-A ***
5289096-C-T 5421055-C-T ***
13405021-G-C 11249345-G-C ***
13484695-T-C 11329019-T-C ***
17854761-G-A 15742881-G-A ***
23009897-T-C 20848011-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.