Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > DF21/S192 > S5488 > Z16294 > BY11121 > Z16281 > Z16282 > Z16291 > BY3829

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
9480732-T-C 9643123-T-C A+
4417390-T-A 4549349-T-A A*
13687821-C-G 11532145-C-G A*
10673591-C-A A*
13478543-G-C 11322867-G-C A*
13454854-T-C 11299178-T-C A*
5484352-C-T 5616311-C-T A*
13450681-G-C 11295005-G-C A*
13451542-T-C 11295866-T-C A*
19734673-G-T 17622793-G-T P5_Prx A*
20258790-C-G 18096904-C-G P5_Dst A*
20445101-C-A 18283215-C-A P5_Dst A*
28817471-C-G 26671324-C-G A*
56830952-C-T A*
56833409-G-C A*
2875179-A-G 3007138-A-G FT47066 YY+
3964753-A-C 4096712-A-C FT47166 +
6734261-T-G 6866220-T-G FT47462 YY+
7520332-T-C 7652291-T-C FT47535 YY+
8038492-T-C 8170451-T-C FT47580 YY+
8533429-C-A 8665388-C-A FT47613 YY+
14170700-G-T 12049994-G-T FT47758 YY+
15860740-T-C 13748860-T-C FT47902 YY+
17595022-G-A 15483142-G-A FT48071 YY+
18178438-C-T 16066558-C-T FT48109 YY+
18264204-G-T 16152324-G-T FT48118 +
19400123-C-T 17288243-C-T YY+
21628074-A-C 19466188-A-C FT182184 YY+
22514033-G-T 20352147-G-T FT48306 Y+
23296981-C-T 21135095-C-T FT48366 YY+
24506451-A-AT 22360304-A-AT +
28789345-T-C 26643198-T-C FT461856 +
13452588-C-T 11296912-C-T *
15558487-T-C 13446607-T-C BY30159 YY*
13452025-G-C 11296349-G-C *
10924711-G-GCCATT *
5681800-C-CT 5813759-C-CT 10×T**
16687607-C-T 14575727-C-T **
13460930-C-T 11305254-C-T **
28806481-A-C 26660334-A-C **
24254146-AC-A 22107999-AC-A P3_b1 **
28806471-G-A 26660324-G-A **
15580345-C-A 13468465-C-A **
15580337-A-C 13468457-A-C **
28806512-T-A 26660365-T-A **
28806458-G-C 26660311-G-C **
13460951-A-G 11305275-A-G **
22164567-G-T 20002681-G-T **
14445287-T-C 12324560-T-C **
13531753-C-CAA 11376077-C-CAA 23×A**
3206112-C-T 3338071-C-T **
4427790-C-A 4559749-C-A **
4536012-TA-T 4667971-TA-T **
6284441-A-ACTT 6416400-A-ACTT IR3_Dst **
6821062-CT-C 6953021-CT-C **
7002960-G-A 7134919-G-A **
7217822-C-T 7349781-C-T **
10082036-CA-C 10244427-CA-C **
10082042-A-AAT 10244433-A-AAT **
13287387-G-A 11131711-G-A **
13359905-C-T 11204229-C-T **
13414897-G-A 11259221-G-A **
13598290-A-G 11442614-A-G **
14123218-G-C 12002512-G-C **
14128421-A-G 12007715-A-G **
14420805-T-TA 12300080-T-TA **
14569446-G-T 12457646-G-T **
14657679-T-C 12545744-T-C **
14761379-GA-G 12649448-GA-G **
14858718-A-G 12746784-A-G **
15376912-G-C 13265032-G-C **
15381120-A-G 13269240-A-G **
15623379-C-G 13511499-C-G **
16000382-G-C 13888502-G-C **
16022817-C-G 13910937-C-G **
16409078-C-G 14297198-C-G **
16997875-C-G 14885995-C-G **
17036299-C-T 14924419-C-T **
17154956-C-A 15043076-C-A **
17455160-C-T 15343280-C-T **
18847200-T-C 16735320-T-C **
19271159-G-T 17159279-G-T **
21829321-CT-C 19667435-CT-C **
22468327-T-G 20306441-T-G DYZ19 **
22474450-G-C 20312564-G-C DYZ19 **
22949930-C-G 20788044-C-G **
23006801-G-T 20844915-G-T **
23087127-C-T 20925241-C-T **
23094766-A-C 20932880-A-C **
24873664-G-A 22727517-G-A g1 **
28806446-A-GGAGAG 26660299-A-GGAGAG **
5904031-CAAAAAAAAAA-C 6035990-CAAAAAAAAAA-C 27×A***
3324074-CAG-C 3456033-CAG-C ***
9519870-TTC-T 9682261-TTC-T ***
8575956-A-ATT 8707915-A-ATT 28×T***
13717377-C-CATGGA 11561701-C-CATGGA 5×ATGGA***
10824153-A-C ***
13480454-G-C 11324778-G-C ***
13480479-G-T 11324803-G-T ***
9942043-A-AT 10104434-A-AT 28×T***
8319173-TAA-T 8451132-TAA-T 11×A***
19202966-G-T 17091086-G-T ***
23455053-AT-A,ATT 21293167-AT-A,ATT 14×T***
14950411-AT-A 12838485-AT-A 10×T***
4244622-AT-A,ATT 4376581-AT-A,ATT 16×T***
5512875-C-CAA 5644834-C-CAA 22×A***
13452949-A-C 11297273-A-C ***
28743227-G-A 26597080-G-A FT60413 ***
21747906-C-A 19586020-C-A ***
13478536-A-T 11322860-A-T ***
13475868-A-G 11320192-A-G ***
13475873-G-A 11320197-G-A ***
13475877-C-T 11320201-C-T ***
2745005-ATCAGCCAGG-A 2876964-ATCAGCCAGG-A ***
2857841-C-T 2989800-C-T ***
3114560-G-A 3246519-G-A ***
3194192-CA-C,CAAA 3326151-CA-C,CAAA 11×A***
3503421-CAA-C,CA 3635380-CAA-C,CA 15×A***
4045757-TA-T 4177716-TA-T 8×A***
4547345-A-G 4679304-A-G ***
4556936-A-G 4688895-A-G ***
4729753-CT-C 4861712-CT-C ***
4752138-TGC-T 4884097-TGC-T ***
5096165-G-C 5228124-G-C ***
5353893-G-T 5485852-G-T ***
5500819-C-T 5632778-C-T ***
5506406-T-C 5638365-T-C ***
6541475-CAG-C,CAGAG 6673434-CAG-C,CAGAG 17×AG***
7296824-C-A 7428783-C-A ***
8057113-G-T 8189072-G-T ***
8092286-T-C 8224245-T-C ***
8816639-T-G 8948598-T-G ***
9456727-G-C 9619118-G-C ***
10080137-C-G 10242528-C-G ***
10776401-C-A ***
13270154-C-G 11114478-C-G ***
13335799-G-C 11180123-G-C ***
13372273-T-C 11216597-T-C ***
13474036-C-T 11318360-C-T ***
13475851-G-T 11320175-G-T ***
13478510-T-A 11322834-T-A ***
13507257-GAA-G 11351581-GAA-G 10×A***
14114943-T-C 11994237-T-C ***
14302898-T-C 12182192-T-C ***
14644956-G-T 12533025-G-T ***
14730396-CAA-C,CAAA 12618464-CAA-C,CAAA 18×A***
15262818-G-A 13150902-G-A ***
16999655-T-C 14887775-T-C ***
16999683-C-G 14887803-C-G ***
17458930-ATTT-A,ATTTT 15347050-ATTT-A,ATTTT 17×T***
17581973-C-G 15470093-C-G ***
17601015-G-A 15489135-G-A ***
17636175-C-T 15524295-C-T ***
17797758-C-G 15685878-C-G ***
18256033-C-T 16144153-C-T ***
18825603-G-T 16713723-G-T ***
18849548-G-T 16737668-G-T ***
19189683-C-T 17077803-C-T ***
19324322-T-C 17212442-T-C ***
22437618-C-T 20275732-C-T DYZ19 ***
22464907-G-T 20303021-G-T DYZ19 ***
22936311-TTTG-G,T 20774425-TTTG-G,T ***
22988758-C-A 20826872-C-A ***
23098816-CAAAA-C,CAAA 20936930-CAAAA-C,CAAA 25×A***
23609263-G-A 21447377-G-A ***
56867333-C-T ***

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.