Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > ZZ12 > ZZ39 > Z229 > Y16019 > Y16018

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
857972
23900740-G-T 21738854-G-T A+
25614963-A-C 23468816-A-C P1_gr1 A+
13687817-G-C 11532141-G-C A*
28817613-G-T 26671466-G-T A*
20033992-C-T 17922112-C-T P5_Prx A*
6257562-A-G 6389521-A-G IR3_Dst A*
16104508-C-G 13992628-C-G P8_Prx A*
18279871-G-A 16167991-G-A P6_Prx A*
19724411-C-G 17612531-C-G P5_Prx A*
20617806-C-A 18455920-C-A P4_Prx A*
20629894-C-T 18468008-C-T P4_Prx A*
21014275-G-A 18852389-G-A P4_Dst YA*
22291079-T-A 20129193-T-A DYZ19 A*
26065836-A-C 23919689-A-C P1_Y1 A*
28645572-AT-A 26499425-AT-A A5835 9×T+
23621266-C-A 21459380-C-A F3496 PF3118 M3625 YY+
10926987-G-T FT436811 +
21584488-G-A 19422602-G-A Y106958 Y+
17939-G-T +
2803372-T-G 2935331-T-G FT183207 YY+
3008110-G-A 3140069-G-A FT183277 +
3025123-C-T 3157082-C-T FT183296 +
3798003-A-C 3929962-A-C FT183617 +
4650200-A-C 4782159-A-C FT184056 +
5081964-T-A 5213923-T-A FT184280 +
5492679-A-G 5624638-A-G FT184476 +
5998684-A-G 6130643-A-G FT184749 +
6402805-C-T 6534764-C-T FT184844 +
6745094-A-G 6877053-A-G FT184981 YY+
8967938-A-G 9130329-A-G FT185871 +
10989247-C-T FT439377 +
11650137-G-A FT450161 +
13862840-G-A 11742134-G-A FT186117 +
14100459-G-A 11979753-G-A FT186318 Y+
14139013-C-A 12018307-C-A FT186337 YY+
14798451-T-C 12686522-T-C FT186647 YY+
14864580-G-A 12752646-G-A FT186674 YY+
15410385-A-C 13298505-A-C FT186899 YY+
15496046-C-A 13384166-C-A FT186934 YY+
15827392-A-T 13715512-A-T FT187082 YY+
16131669-A-G 14019789-A-G FT282215 +
16265359-C-T 14153479-C-T FT187232 YY+
16421195-C-T 14309315-C-T FT187300 YY+
16857446-ATTTC-A 14745566-ATTTC-A +
17254443-A-G 15142563-A-G FT187652 YY+
17490475-TA-T 15378595-TA-T +
17562620-C-T 15450740-C-T YY+
17731561-A-G 15619681-A-G FT187851 Y+
17743622-G-A 15631742-G-A FT187854 YY+
17821154-C-T 15709274-C-T FT187897 YY+
18826092-T-A 16714212-T-A FT188280 YY+
18826093-GCTAGACCCACTTTGTCCATTAT-G 16714213-GCTAGACCCACTTTGTCCATTAT-G +
19047742-T-A 16935862-T-A FT188379 YY+
19096555-T-C 16984675-T-C FT188419 YY+
21145034-C-T 18983148-C-T FT188671 YY+
21387353-T-C 19225467-T-C FT188775 YY+
21755394-T-C 19593508-T-C FT188911 YY+
21762862-G-A 19600976-G-A FT188916 YY+
22026772-T-C 19864886-T-C FT189039 YY+
22271047-C-T 20109161-C-T FT454248 DYZ19 +
22475899-C-G 20314013-C-G DYZ19 +
23165083-T-C 21003197-T-C FT189336 Y+
24465969-A-T 22319822-A-T FT189644 Y+
8501689-CTCTTCTTCTTCT-C 8633648-CTCTTCTTCTTCT-C 18×TCT*
11014374-TTCCAC-T *
10841009-CTCCATTCCATTCCAT-C *
5563117-T-TACAC 5695076-T-TACAC 16×AC*
5603715-A-AAAT 5735674-A-AAAT *
11001489-A-C *
11004383-TCCATT-T,TCCATG *
13694760-T-A 11539084-T-A *
22253621-A-G 20091735-A-G DYZ19 *
22264646-C-T 20102760-C-T DYZ19 *
25866448-A-C 23720301-A-C P1_Y1 *
16973816-G-A 14861936-G-A FT347187 **
3253848-T-A 3385807-T-A FT11552 **
7664706-G-GT 7796665-G-GT **
16410333-C-A 14298453-C-A **
17991412-A-AT 15879532-A-AT P7_Prx **
17268897-A-G 15157017-A-G **
17953966-C-T 15842086-C-T **
18737357-G-T 16625477-G-T **
20025430-CTCCTCTCT-C 17913550-CTCCTCTCT-C P5_Prx **
22477137-T-A 20315251-T-A DYZ19 **
26038754-T-TAG 23892607-T-TAG P1_Y1 **
17857728-G-C 15745848-G-C FTA6076 ***
22225706-T-A 20063820-T-A DYZ19 ***
16050990-TTCTTTC-T,TTCTT 13939110-TTCTTTC-T,TTCTT ***
22225707-C-A 20063821-C-A DYZ19 ***
14565031-T-C 12453231-T-C FT304493 ***
20104300-AG-A 17992420-AG-A P5_Dst ***
3845854-A-G 3977813-A-G ***
7114643-T-G 7246602-T-G ***
7233297-TAA-T,TAAA 7365256-TAA-T,TAAA 17×A***
9805030-G-T 9967421-G-T ***
18951707-T-TAATA 16839827-T-TAATA 4×AATA***
22233120-C-A 20071234-C-A BY10562 DYZ19 ***
22302626-C-T 20140740-C-T DYZ19 ***
22446236-G-A 20284350-G-A DYZ19 ***
23087052-A-G 20925166-A-G ***
29533-G-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.