Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > L2/S139 > Z258 > Z367/S255 > L20/S144 > Z46420 > Z291 > BY3569

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
325632
4708598-A-G 4840557-A-G A*
56835381-C-A A*
3186741-C-CAA 3318700-C-CAA 15×AA*
10048212-A-G 10210603-A-G A*
56836873-A-ACATTTCATTCCACTCCATTC A*
56832964-C-T A*
56835468-T-G A*
13449042-G-GCATTCCATTC 11293366-G-GCATTCCATTC A*
56833943-T-A A*
56833893-G-GCCATTCCAGTCCACT A*
19586695-A-ATT 17474815-A-ATT P5_Prx 22×TA*
4692523-C-T 4824482-C-T A*
6222869-G-T 6354828-G-T IR3_Dst A*
19591915-C-T 17480035-C-T P5_Prx YA*
19915934-T-C 17804054-T-C P5_Prx A*
20635312-G-C 18473426-G-C P4_Prx A*
26060468-A-G 23914321-A-G P1_Y1 A*
26332778-G-A 24186631-G-A P1_Y1 A*
26422781-C-T 24276634-C-T P1_Y1 A*
56833874-C-A A*
18718886-ATATCTATC-A 16607006-ATATCTATC-A 13×TATC+
7108996-CCTTT-C 7240955-CCTTT-C 5×CTTT+
21116406-G-A 18954520-G-A BY154950 YY+
7396115-AT-A 7528074-AT-A +
7396122-A-G 7528081-A-G Y84074 YY+
4447029-CGTGT-C 4578988-CGTGT-C 12×GT+
2801254-G-A 2933213-G-A FT255446 YY+
4079143-C-G 4211102-C-G FT95252 +
4320694-C-A 4452653-C-A FT95351 +
5176744-T-C 5308703-T-C FT95641 +
5243600-G-A 5375559-G-A FT95664 +
6085381-A-G 6217340-A-G FT95962 +
6103478-G-A 6235437-G-A FT256075 +
6700584-G-C 6832543-G-C BY152445 YY+
7521672-A-C 7653631-A-C BY152627 YY+
7718629-A-C 7850588-A-C BY152683 YY+
8233590-A-T 8365549-A-T BY152841 YY+
9102364-G-A 9264755-G-A BY153114 Y+
10013470-A-G 10175861-A-G BY153254 Y+
10027886-C-A 10190277-C-A FT123026 Y+
10689504-C-T FT429149 +
13809279-G-A 11688573-G-A FT96303 DYZ17 +
13850132-G-C 11729426-G-C FT256565 DYZ17 +
14021130-C-CCTCA 11900424-C-CCTCA +
14275838-A-G 12155132-A-G FT256665 YY+
14340469-A-G 12219764-A-G BY153618 YY+
14364740-G-A 12244035-G-A BY187082 YY+
15430440-A-C 13318560-A-C BY153861 YY+
16594139-T-C 14482259-T-C BY154161 YY+
16762396-T-TA 14650516-T-TA +
17206461-C-T 15094581-C-T FT257134 YY+
17585509-T-A 15473629-T-A BY154413 YY+
18381794-C-T 16269914-C-T FT96913 P6_Gap +
19043022-G-A 16931142-G-A FT233209 Y+
19395597-A-G 17283717-A-G BY154889 YY+
19754999-CTCTTTCTT-C 17643119-CTCTTTCTT-C P5_Prx 7×TCTT+
20807374-A-G 18645488-A-G BY165795 P4_Gap +
21078383-G-A 18916497-G-A FT257515 Y+
21184194-T-C 19022308-T-C FT257538 YY+
22471175-C-G 20309289-C-G BY165763 DYZ19 +
22600986-T-C 20439100-T-C FT257749 YY+
22650936-C-T 20489050-C-T BY155387 YY+
23461759-G-A 21299873-G-A BY155615 YY+
23500719-T-C 21338833-T-C BY155627 YY+
28765235-C-G 26619088-C-G FT123024 Y+
5650593-AACAC-A 5782552-AACAC-A 18×AC*
10796123-ATTCCG-A *
10804780-TATTCCATTCCATTCC-T *
3952340-T-TGAGA 4084299-T-TGAGA 20×GA*
14176908-C-CA 12056202-C-CA *
20424749-GAAGAAAGA-G 18262863-GAAGAAAGA-G P5_Dst 7×AAGA*
9836890-T-G 9999281-T-G **
9524114-TAC-T 9686505-TAC-T **
19611206-C-A 17499326-C-A P5_Prx 26×T**
3152374-A-G 3284333-A-G **
3490457-G-A 3622416-G-A **
4293939-A-AT 4425898-A-AT 9×T**
5920643-G-A 6052602-G-A **
7380903-A-C 7512862-A-C **
7896610-G-A 8028569-G-A **
9632214-A-AG 9794605-A-AG IR3_Prx **
9913991-A-G 10076382-A-G **
13875640-T-C 11754934-T-C FT96315 **
19949711-C-A 17837831-C-A P5_Prx **
21347644-T-C 19185758-T-C **
22287762-A-T 20125876-A-T BY52359 DYZ19 **
22438938-T-A 20277052-T-A BY165740 DYZ19 **
26060407-C-T 23914260-C-T P1_Y1 **
13545356-G-GAAGAAAGAAAGA 11389680-G-GAAGAAAGAAAGA 11×AAGA***
23196176-G-GTT 21034290-G-GTT 20×T***
17833144-GTT-G 15721264-GTT-G 13×T***
5757308-CAAAAAA-C 5889267-CAAAAAA-C 18×A***
24508205-C-CTT 22362058-C-CTT 22×T***
6091720-ATTTTTT-A 6223679-ATTTTTT-A 28×T***
21553403-CTTT-C 19391517-CTTT-C 31×T***
14765676-ATTT-A,ATT 12653745-ATTT-A,ATT 21×T***
22580068-CTTTTTT-C 20418182-CTTTTTT-C 19×T***
10776353-TTTCCATTCCATTCCATTCCATTCCATTCCA-T ***
4880892-ATTTT-A 5012851-ATTTT-A 17×T***
22186713-C-CA,CAA 20024827-C-CA,CAA 16×A***
21278063-G-GT 19116177-G-GT ***
17718412-GT-G,GTT 15606532-GT-G,GTT 20×T***
13475872-C-T 11320196-C-T BY47076 ***
5701350-A-G 5833309-A-G ***
3214557-G-A 3346516-G-A ***
5308820-A-G 5440779-A-G ***
6059092-CAA-C,CAAAA 6191051-CAA-C,CAAAA 25×A***
13535818-G-A 11380142-G-A ***
14108716-T-C 11988010-T-C FT335278 ***
18875223-A-G 16763343-A-G ***
21091375-T-A 18929489-T-A ***
22422199-C-T 20260313-C-T DYZ19 ***
23288971-T-C 21127085-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.