Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > ZZ45 > Z36/S206 > Y17161 > Y16889 > A7992 > BY121456 > FGC71023 > BY121433

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
571542
20001468-C-T 17889588-C-T P5_Prx A+
21744561-T-A A+
21744562-C-A A+
28817684-G-T 26671537-G-T A*
28817683-G-T 26671536-G-T A*
13687814-A-C 11532138-A-C DYZ17 A*
18325730-C-A 16213850-C-A FTA43877 P6_Prx A*
20250035-A-AT 18088149-A-AT P5_Dst 9×TA*
6113879-C-T 6245838-C-T A*
6256723-C-G 6388682-C-G IR3_Dst A*
9613647-G-C 9776038-G-C IR3_Prx A*
9746179-G-A 9908570-G-A A*
13451642-T-C 11295966-T-C A*
14441630-A-G 12320903-A-G YA*
18376282-C-T 16264402-C-T P6_Prx A*
19610832-C-G 17498952-C-G P5_Prx YA*
19686378-C-A 17574498-C-A P5_Prx A*
24242825-C-T 22096678-C-T P3_b1 A*
24255072-C-A 22108925-C-A P3_b1 A*
25509008-T-G 23362861-T-G P1_gr1 A*
25555755-G-A 23409608-G-A P1_gr1 A*
26038694-C-A 23892547-C-A P1_Y1 A*
26271518-G-A 24125371-G-A P1_Y1 A*
26356874-G-A 24210727-G-A P1_Y1 A*
10648069-CTCCATTCCATTCCAT-C +
10798240-C-G +
17353728-T-C 15241848-T-C FT94043 YY+
3660283-A-G 3792242-A-G FT93576 +
5247744-G-A 5379703-G-A FT93751 +
5695939-A-G 5827898-A-G FT93790 +
6149406-G-A 6281365-G-A BY59327 IR3_Dst +
6690750-AG-A 6822709-AG-A +
6808382-CATTG-C 6940341-CATTG-C 5×ATTG+
8511580-G-A 8643539-G-A YY+
8797913-C-T 8929872-C-T BY75975 YY+
9482151-G-C 9644542-G-C FT93915 +
9977421-TG-T 10139812-TG-T +
10772063-G-A FT430520 +
10774893-A-C FT430655 +
10863445-C-A FT434552 +
13654024-A-G 11498348-A-G BY87164 DYZ17 +
11649115-G-C FT450104 DYZ17 +
14030568-T-C 11909862-T-C BY92459 YY+
14174264-C-T 12053558-C-T BY93565 YY+
14196406-TA-T 12075700-TA-T +
14228585-G-A 12107879-G-A FT93951 YY+
14246046-TG-T 12125340-TG-T +
15019153-A-T 12907242-A-T BY99146 YY+
15633956-C-G 13522076-C-G BY103016 YY+
15753700-A-G 13641820-A-G BY103854 YY+
15995705-C-G 13883825-C-G FT94006 YY+
16188995-G-T 14077115-G-T FT180593 YY+
16311760-GA-G 14199880-GA-G 8×A+
16318552-A-C 14206672-A-C FT94015 Y+
16601026-T-C 14489146-T-C BY54841 YY+
17352051-C-G 15240171-C-G BY114093 YY+
17476394-G-A 15364514-G-A BY115079 YY+
17477766-T-A 15365886-T-A BY115094 YY+
17593830-A-G 15481950-A-G BY115993 YY+
18187162-G-A 16075282-G-A FT94070 Y+
18962553-G-A 16850673-G-A BY125124 YY+
19169984-A-T 17058104-A-T BY126931 Y+
19194817-CAT-C 17082937-CAT-C +
19419271-G-T 17307391-G-T BY128927 YY+
21481860-A-T 19319974-A-T BY133254 YY+
22514289-G-T 20352403-G-T BY138587 Y+
22571445-C-G 20409559-C-G BY139151 YY+
23134451-A-G 20972565-A-G BY143250 YY+
23995076-C-G 21848929-C-G BY149137 +
56862045-C-G *
28792295-G-A 26646148-G-A *
56840271-T-A,G *
22425940-C-G 20264054-C-G DYZ19 **
19981803-T-TC 17869923-T-TC P5_Prx **
4336692-C-G 4468651-C-G **
4746183-T-C 4878142-T-C **
5474184-AT-A 5606143-AT-A **
7016340-T-C 7148299-T-C **
7376532-C-G 7508491-C-G BY64846 **
7784424-A-G 7916383-A-G **
8090862-CAAAAA-C 8222821-CAAAAA-C 9×A**
9005828-A-AAT 9168219-A-AAT **
11000223-TTCCACTCCAC-T **
13219008-G-T 11063332-G-T **
13932137-CATCATATATATATATATATATATATAT-C 11811431-CATCATATATATATATATATATATATAT-C **
13932167-AATATAT-A 11811461-AATATAT-A 11×AT**
15622387-A-G 13510507-A-G **
16468518-G-A 14356638-G-A **
16999956-G-A 14888076-G-A **
17333936-G-A 15222056-G-A FT181029 **
21122518-A-G 18960632-A-G **
22138217-T-A 19976331-T-A **
22464729-A-C 20302843-A-C BY52913 DYZ19 **
22469283-G-C 20307397-G-C BY52991 DYZ19 **
23018160-A-G 20856274-A-G **
24379060-TA-T 22232913-TA-T **
24604697-A-ATC 22458550-A-ATC P3_t2 11×T**
28673208-G-A 26527061-G-A **
28712486-G-C 26566339-G-C **
16050910-CT-C 13939030-CT-C ***
16749739-TTTG-T 14637859-TTTG-T ***
8703659-ATT-A,ATTT 8835618-ATT-A,ATTT 18×T***
17004514-C-A 14892634-C-A ***
17004517-A-AG 14892637-A-AG ***
16865018-T-C 14753138-T-C ***
3706014-TA-T 3837973-TA-T 10×A***
5083952-C-CTT 5215911-C-CTT 17×T***
23364087-CAAA-C,CAA 21202201-CAAA-C,CAA 16×A***
3635297-GA-G 3767256-GA-G 9×A***
3890474-A-AAT 4022433-A-AAT ***
4592740-C-CA 4724699-C-CA 9×A***
7165360-G-A 7297319-G-A ***
7362253-A-G 7494212-A-G ***
16050897-CCCT-C 13939017-CCCT-C ***
16050925-T-TCC 13939045-T-TCC ***
16050928-T-C 13939048-T-C ***
16889931-A-G 14778051-A-G ***
17004522-A-T 14892642-A-T ***
23576602-T-A 21414716-T-A ***
23576649-A-G 21414763-A-G ***
27461851-C-T 25315704-C-T P1_Y2 ***
56887101-G-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.