Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > ZZ10 > Z253 > Z2534 > ZZ5 > Z2185 > BY44331 > Z2186

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
13448136-G-A 11292460-G-A A*
3063726-T-TA 3195685-T-TA 13×AA*
56830845-C-T A*
28817621-G-T 26671474-G-T A*
28816818-G-C 26670671-G-C A*
13450562-T-G 11294886-T-G A*
56836985-C-T A*
56871025-T-A A*
5570650-C-T 5702609-C-T A*
6238938-C-A 6370897-C-A IR3_Dst A*
17988230-T-C 15876350-T-C P7_Prx YA*
18302438-T-C 16190558-T-C P6_Prx A*
19808688-G-A 17696808-G-A P5_Prx A*
20654179-C-T 18492293-C-T P4_Prx A*
22345323-G-A 20183437-G-A DYZ19 A*
25355962-C-G 23209815-C-G P2_r2 A*
26210011-G-A 24063864-G-A P1_Y1 A*
26225581-A-G 24079434-A-G P1_Y1 A*
26353170-T-A 24207023-T-A P1_Y1 A*
26460920-A-T 24314773-A-T P1_Y1 A*
26525402-A-T 24379255-A-T P1_Y1 A*
28817795-T-G 26671648-T-G A*
14467033-A-G 12346302-A-G BY152352BY23188 YY+
14871455-G-A 12759525-G-A PH1482 YY+
17730899-T-A 15619019-T-A FT244658 Y+
2747083-G-C 2879042-G-C FT148212 YY+
3191064-G-C 3323023-G-C FT206128 +
3470287-T-C 3602246-T-C FT206168 +
3690585-C-G 3822544-C-G FT206209 +
3899939-T-C 4031898-T-C FT206256 +
4669569-C-G 4801528-C-G FT206396 +
4711581-G-A 4843540-G-A FT206406 +
5393668-AG-A 5525627-AG-A +
5837509-T-C 5969468-T-C FT206610 +
5859366-C-G 5991325-C-G FT206615 +
5952333-A-G 6084292-A-G FT206635 +
6384424-G-C 6516383-G-C FT206671 +
6384822-T-C 6516781-T-C FT206672 +
6489694-G-T 6621653-G-T FT206690 +
6933113-CA-C 7065072-CA-C +
6933119-T-C 7065078-T-C FT206747 YY+
7604424-A-G 7736383-A-G FT206813 YY+
7755543-C-T 7887502-C-T FT206828 YY+
7927377-C-T 8059336-C-T FT206845 YY+
7946994-T-C 8078953-T-C FT206847 YY+
8117278-A-T 8249237-A-T FT206861 YY+
8222214-G-A 8354173-G-A FT206874 YY+
8711573-C-G 8843532-C-G FT206942 YY+
8877795-C-T 9009754-C-T FT206966 Y+
9841897-G-T 10004288-G-T FT207018 YY+
9944315-G-T 10106706-G-T FT361996 Y+
10930729-T-A FT225383 +
13307308-C-T 11151632-C-T FT442554 +
13631140-G-A 11475464-G-A FT446777 +
13707772-G-A 11552096-G-A FT265199 +
13716976-G-T 11561300-G-T +
11668699-G-C FT451064 +
14235821-G-A 12115115-G-A FT207125 YY+
14281812-C-T 12161106-C-T FT207133 YY+
14298318-C-A 12177612-C-A FT207138 YY+
14524110-C-T 12412311-C-T FT149172 YY+
14826303-A-T 12714370-A-T FT207199 YY+
15432782-T-G 13320902-T-G FT207260 YY+
15991431-G-A 13879551-G-A FT207328 YY+
16036059-A-T 13924179-A-T FT207335 YY+
16075538-T-C 13963658-T-C FT207343 Y+
16077779-G-A 13965899-G-A FT207344 Y+
16611917-C-T 14500037-C-T YY+
16884778-A-G 14772898-A-G FT207455 Y+
18701535-T-C 16589655-T-C FT207648 YY+
18730559-G-T 16618679-G-T FT207654 YY+
19236643-G-A 17124763-G-A FT207729 YY+
21092335-G-A 18930449-G-A FT207767 YY+
21099143-A-T 18937257-A-T FT207768 YY+
22549227-T-C 20387341-T-C FT207926 YY+
22734727-C-T 20572841-C-T FT207949 YY+
22734729-C-T 20572843-C-T FT207950 YY+
22971170-G-C 20809284-G-C FT207981 YY+
23271093-T-G 21109207-T-G FT208018 YY+
23277718-A-G 21115832-A-G FT208020 YY+
23636809-C-A 21474923-C-A FT208051 YY+
23885260-GT-G 21723374-GT-G +
23990051-T-A 21843904-T-A FT208077 Y+
24513776-G-A 22367629-G-A FT208084 +
3006331-GT-G 3138290-GT-G 10×T*
16774225-TTATC-T 14662345-TTATC-T 5×TATC**
16342256-AGAAG-A 14230376-AGAAG-A 7×GAAG**
24267259-C-A 22121112-C-A P3_b1 **
16874074-G-GA 14762194-G-GA **
13469399-G-C 11313723-G-C **
13453336-T-C 11297660-T-C **
26081932-A-AAT 23935785-A-AAT P1_Y1 **
20730912-G-T 18569026-G-T P4_Prx **
25931480-G-T 23785333-G-T P1_Y1 **
26424356-T-A 24278209-T-A P1_Y1 **
26424314-CAA-C 24278167-CAA-C P1_Y1 23×A**
4336569-T-A 4468528-T-A **
13529778-A-G 11374102-A-G **
15335907-C-G 13224025-C-G **
19048364-T-TAATAGAC 16936484-T-TAATAGAC **
19059924-T-C 16948044-T-C **
19086035-C-T 16974155-C-T **
21417217-T-C 19255331-T-C **
22446789-T-A 20284903-T-A BY219891 DYZ19 **
21780444-CA-C **
24667956-A-G 22521809-A-G P3_b2 **
24668109-A-G 22521962-A-G P3_b2 **
26389864-C-CAT 24243717-C-CAT P1_Y1 **
13958-T-A **
15947951-CTTT-C,CTT 13836071-CTTT-C,CTT 19×T***
13453492-T-A 11297816-T-A ***
21905283-C-CAA 19743397-C-CAA 16×A***
15607860-A-AT 13495980-A-AT 9×T***
15834138-T-TA 13722258-T-TA ***
15093588-C-CTT 12981676-C-CTT 11×T***
3846502-G-C 3978461-G-C ***
21417268-A-G 19255382-A-G ***
5234764-CTTT-C 5366723-CTTT-C 19×T***
3474543-CAAA-C 3606502-CAAA-C 15×A***
4742540-C-T 4874499-C-T ***
6648613-CTTT-C,CTTTTT 6780572-CTTT-C,CTTTTT 27×T***
6682726-A-C 6814685-A-C ***
8786473-G-C 8918432-G-C ***
10083707-T-A 10246098-T-A ***
13722820-A-G 11567144-A-G ***
13954152-A-G 11833446-A-G ***
21915770-T-C 19753884-T-C ***
22255791-G-T 20093905-G-T DYZ19 ***
22983970-T-C 20822084-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.