Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > Z195/S355 > Z272 > S450 > Z295/S1217 > S25783 > CTS4065 > 15548847GACAC-G > FGC15710

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 STRFTDNA
6826507-A-AG 6958466-A-AG +
18195856-G-A 16083976-G-A F22556 YY+
6970214-C-A 7102173-C-A BY62615 YY+
7180552-G-A 7312511-G-A BY63717 YY+
7205795-A-G 7337754-A-G BY63882 YY+
7408192-C-G 7540151-C-G BY65048 YY+
7739300-T-C 7871259-T-C BY67250 YY+
7936360-T-C 8068319-T-C BY68883 YY+
8226690-T-C 8358649-T-C BY70908 YY+
8373409-A-C 8505368-A-C BY72088 YY+
8391439-C-A 8523398-C-A BY72251 YY+
8664217-C-A 8796176-C-A BY75045 YY+
8728474-T-C 8860433-T-C BY42784 YY+
9778628-G-C 9941019-G-C BY80960 Y+
14408794-G-C 12288092-G-C BY95549 YY+
15122803-A-G 13010890-A-G BY99791 YY+
15708780-C-T 13596900-C-T BY103452 YY+
16481809-C-A 14369929-C-A BY108100 YY+
16888395-C-A 14776515-C-A BY110846 YY+
16906438-A-T 14794558-A-T BY111002 YY+
17116479-T-G 15004599-T-G BY112417 YY+
17512889-G-T 15401009-G-T BY115362 YY+
17674136-G-A 15562256-G-A BY116544 YY+
17942928-T-G 15831048-T-G BY118598 YY+
18021927-T-G 15910047-T-G BY119187 Y+
18045434-G-A 15933554-G-A BY119425 YY+
18067448-A-G 15955568-A-G BY211744 YY+
18067452-A-G 15955572-A-G Z2913Y2604 M12420 FGC2628 YY+
18067456-A-G 15955576-A-G YFC177222 YY+
18251823-G-T 16139943-G-T BY121199 Y+
18645493-T-C 16533613-T-C BY122822 YY+
18701557-G-A 16589677-G-A A16060 YY+
18709321-C-T 16597441-C-T FT181494 YY+
19264962-C-G 17153082-C-G BY55182 YY+
21781376-C-T 19619490-C-T BY135422 YY+
21870384-G-A 19708498-G-A BY136061 YY+
22459952-C-G 20298066-C-G FGC30102 DYZ19 +
22914764-CTGT-C 20752878-CTGT-C +
9384243-C-G 9546634-C-G BY64204Z44888 **
19061349-T-G 16949469-T-G CTS9766 FGC192 **
16425449-T-C 14313569-T-C **
7064029-G-A 7195988-G-A CTS881 Z1517 **
13838119-A-G 11717413-A-G BY91046 **
28814246-G-T 26668099-G-T FT462718 **
13839288-A-AT 11718582-A-AT ***
13731774-A-G 11576098-A-G ***
13472445-C-T 11316769-C-T ***
13473880-A-G 11318204-A-G ***
13652928-A-G 11497252-A-G ***
24417105-A-C 22270958-A-C BY25497 ***
27791926-T-G 25645779-T-G P1_Y2 ***
16049121-C-T 13937241-C-T CTS5167 Z2784 ***
10024086-C-G 10186477-C-G ***
22462185-C-G 20300299-C-G S9318FGC67258 DYZ19 ***
13643241-T-TTCG 11487565-T-TTCG ***
19948181-CCTTT-C 17836301-CCTTT-C P5_Prx 21×CTTT***
13472470-C-G 11316794-C-G ***
10023273-G-A 10185664-G-A ***
13801559-G-A 11680853-G-A FT451642 ***
16760917-C-A 14649037-C-A M8793 CTS6243 ***
13676522-G-C 11520846-G-C ***
6826530-G-GTA 6958489-G-GTA ***
13455884-TATTCC-T 11300208-TATTCC-T ***
13676489-C-A 11520813-C-A ***
19839125-T-C 17727245-T-C P5_Prx ***
20015154-C-G 17903274-C-G P5_Prx ***
22220005-A-C 20058119-A-C DYZ19 ***
22227249-G-A 20065363-G-A DYZ19 ***
22236932-T-C 20075046-T-C DYZ19 ***
22253609-G-T 20091723-G-T DYZ19 ***
22259782-G-A 20097896-G-A DYZ19 ***
22283902-T-G 20122016-T-G DYZ19 ***
22302218-G-A 20140332-G-A DYZ19 ***
22357879-G-C 20195993-G-C DYZ19 ***
22446233-G-C 20284347-G-C DYZ19 ***
22452488-G-A 20290602-G-A DYZ19 ***
22475902-C-A 20314016-C-A BY50568 DYZ19 ***
22510224-C-G 20348338-C-G DYZ19 ***
25178002-C-T 23031855-C-T g1 ***
25266577-T-G 23120430-T-G P2_r1 ***
25412877-C-T 23266730-C-T P2_r2 ***
25786329-A-G 23640182-A-G P1_b3 ***
58973896-T-A,G 56827749-T-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.