Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > Z195/S355 > Z272 > S450 > ZZ40 > ~24806588-G-A

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
266575
22457869-G-A 20295983-G-A Z17267Z17285 DYZ19 +
8068944-C-G 8200903-C-G Z36909 YY+
18606176-A-G 16494296-A-G FGC6453 YY+
23137730-C-T 20975844-C-T A10659FGC46519 YY+
6932344-G-C 7064303-G-C Y61235 YY+
7179171-C-T 7311130-C-T BY53620 YY+
9728112-T-C 9890503-T-C BY80559 IR3_Prx +
13204737-A-C 11049061-A-C BY84361 +
14069407-T-C 11948701-T-C Y65879 YY+
14188650-A-G 12067944-A-G Y66131 YY+
15490110-A-C 13378230-A-C Y68330 YY+
15872780-C-G 13760900-C-G Y69038 YY+
16693144-T-C 14581264-T-C Y70345 YY+
16801790-C-A 14689910-C-A Y70519 YY+
16835583-T-C 14723703-T-C Y70582 YY+
17882113-T-A 15770233-T-A Y72558 YY+
18518876-C-T 16406996-C-T BY121997 P6_Dst +
19358021-T-C 17246141-T-C Y75184 YY+
20827300-T-TA 18665414-T-TA P4_Gap +
21286107-G-A 19124221-G-A Y76134 YY+
21461733-T-A 19299847-T-A Y76517 YY+
22089733-C-T 19927847-C-T Y77727 YY+
22094663-T-G 19932777-T-G Y77735 YY+
22262713-T-C 20100827-T-C BY214582 DYZ19 +
22445127-T-G 20283241-T-G BY219555 DYZ19 +
22463043-G-T 20301157-G-T BY48608 DYZ19 +
22830352-C-G 20668466-C-G Y78736 YY+
24001569-C-T 21855422-C-T Y80537 Y+
24416258-C-A 22270111-C-A Y80668 Y+
24600442-C-CCCTT 22454295-C-CCCTT P3_t2 18×TCTT+
24026486-T-C 21880339-T-C **
13717475-G-A 11561799-G-A **
17903181-GT-G 15791301-GT-G **
13868889-C-T 11748183-C-T ***
13827053-C-G 11706347-C-G ***
13846702-A-G 11725996-A-G ***
13869749-T-A 11749043-T-A ***
25354282-GA-G 23208135-GA-G P2_r1 12×A***
10060320-C-T 10222711-C-T ***
13830311-A-G 11709605-A-G ***
13143371-G-A 10632857-G-A ***
22253753-G-C 20091867-G-C DYZ19 ***
13140511-T-C 10629997-T-C ***
13140546-T-C 10630032-T-C ***
13809971-A-G 11689265-A-G ***
13140528-CA-C 10630014-CA-C ***
13140544-A-T 10630030-A-T ***
13140532-T-TC 10630018-T-TC ***
13715854-G-A 11560178-G-A ***
22245172-G-T 20083286-G-T DYZ19 ***
22245173-G-T 20083287-G-T DYZ19 ***
22259676-C-T 20097790-C-T DYZ19 ***
22259994-C-T 20098108-C-T DYZ19 ***
22279735-G-A 20117849-G-A BY26419 DYZ19 ***
22281311-C-T 20119425-C-T DYZ19 ***
22307572-G-A 20145686-G-A DYZ19 ***
22334144-G-A 20172258-G-A DYZ19 ***
22353226-A-C 20191340-A-C DYZ19 ***
22435583-G-C 20273697-G-C DYZ19 ***
22441238-C-T 20279352-C-T ALK182 DYZ19 ***
22441690-C-T 20279804-C-T BY52596 DYZ19 ***
22441703-T-A 20279817-T-A BY52598 DYZ19 ***
22477707-C-A 20315821-C-A BY223869 DYZ19 ***
22506949-G-A 20345063-G-A FGC38766 DYZ19 ***
24278271-A-G 22132124-A-G P3_b1 ***
24766097-T-C 22619950-T-C P3_b2 ***
25007384-G-T 22861237-G-T g1 ***
25084881-T-C 22938734-T-C g1 ***
25346067-T-C 23199920-T-C P2_r1 ***
25351541-T-C 23205394-T-C P2_r1 ***
25721873-A-G 23575726-A-G P1_b3 ***
25733264-T-C 23587117-T-C P1_b3 ***
26029639-A-G 23883492-A-G P1_Y1 ***
26045017-T-C 23898870-T-C P1_Y1 ***
26194449-T-G 24048302-T-G P1_Y1 ***
26323828-T-TCCCC 24177681-T-TCCCC P1_Y1 ***
26323830-A-T 24177683-A-T P1_Y1 ***
26323831-TGG-T 24177684-TGG-T P1_Y1 ***
28240517-T-C 26094370-T-C P1_b4 ***
28784635-G-T 26638488-G-T ***
24228670-A-AT 22082523-A-AT P3_b1 ***
24323825-T-TA 22177678-T-TA P3_t1 10×A***
13448866-G-A,C 11293190-G-A,C ***
13448355-CCCCCT-C,CCCCC 11292679-CCCCCT-C,CCCCC ***

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.