Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > Z39589 > Z251/S470 > Z16943 > Z16944 > Z16946

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
21748658-T-C A+
21748684-G-A A+
21748709-T-C A+
21748744-G-A A+
21748775-A-G A+
4851202-C-T 4983161-C-T A+
21748625-A-T A+
21748629-C-G A+
21748636-G-A A+
21748637-A-G A+
21748728-C-G A+
21748729-C-A A+
21748756-G-T A+
21748757-T-G A+
10880621-T-C A*
26422876-G-A 24276729-G-A P1_Y1 A*
28800246-G-T 26654099-G-T A*
28800272-G-T 26654125-G-T A*
56832278-A-ACCATT A*
13687329-C-T 11531653-C-T A*
14434874-C-G 12314147-C-G YA*
16110715-A-G 13998835-A-G P8_Prx A*
19640691-G-A 17528811-G-A P5_Prx A*
19751694-C-T 17639814-C-T P5_Prx A*
19835581-G-A 17723701-G-A P5_Prx A*
19876192-A-G 17764312-A-G P5_Prx A*
19918865-G-T 17806985-G-T P5_Prx A*
19984477-C-T 17872597-C-T P5_Prx A*
20711226-A-G 18549340-A-G P4_Prx A*
24256100-G-T 22109953-G-T P3_b1 A*
25982298-C-T 23836151-C-T P1_Y1 A*
26152584-T-C 24006437-T-C P1_Y1 A*
28817836-G-C 26671689-G-C A*
13840530-G-A 11719824-G-A BY35166FGC73727 BY35168 +
14000220-G-A 11879514-G-A FT128592 Y+
26273430-G-A 24127283-G-A BY56656BY35975 P1_Y1 +
22659341-T-G 20497455-T-G FT225018 YY+
3299911-C-A 3431870-C-A FT223215 +
3638834-C-G 3770793-C-G FT223264 +
4801052-T-C 4933011-T-C FT223445 +
4801274-G-C 4933233-G-C FT223446 +
5759479-C-T 5891438-C-T FTA21470 +
6460492-A-C 6592451-A-C FT223662 +
6839815-A-G 6971774-A-G FT223719 YY+
6847398-G-A 6979357-G-A FT223720 YY+
6933149-G-C 7065108-G-C FT223729 YY+
7173322-C-T 7305281-C-T FT223762 YY+
7359405-T-G 7491364-T-G FT223777 YY+
7368240-T-C 7500199-T-C BY188865 YY+
7602063-T-C 7734022-T-C FT223801 YY+
7677547-A-G 7809506-A-G FT223808 YY+
7738581-A-G 7870540-A-G FT223819 YY+
7843609-T-C 7975568-T-C FTA17674 YY+
7893611-G-A 8025570-G-A FT223847 YY+
8315338-T-A 8447297-T-A FT223898 YY+
8810447-C-G 8942406-C-G FT223962 YY+
8993443-T-A 9155834-T-A FTA18026 Y+
9148294-T-C 9310685-T-C FT223998 Y+
9754518-T-G 9916909-T-G FT224028 +
10929156-C-T FT358023 +
10958818-CTCCATTCCAT-C +
14746445-G-A 12634514-G-A FT224223 YY+
15036899-T-A 12924987-T-A FT224263 YY+
15634575-C-T 13522695-C-T FT224322 YY+
15713057-T-G 13601177-T-G FTA18817 YY+
16355760-C-T 14243880-C-T FTA19022 Y+
16630963-C-T 14519083-C-T FT224465 YY+
17530199-G-A 15418319-G-A FT224590 YY+
17687926-G-A 15576046-G-A FT224614 YY+
17950324-C-T 15838444-C-T FT224640 YY+
21117058-T-C 18955172-T-C FT224837 YY+
21294166-G-A 19132280-G-A FT224858 YY+
21608190-A-G 19446304-A-G FTA20294 YY+
21696136-C-T 19534250-C-T FT224928 YY+
21940905-C-T 19779019-C-T FT65385 Y+
22262889-A-C 20101003-A-C FT453942 DYZ19 +
22464685-G-T 20302799-G-T FT458422 DYZ19 +
22613987-T-C 20452101-T-C FT225014 YY+
22806026-C-T 20644140-C-T BY140887 YY+
23246766-C-T 21084880-C-T FT225110 YY+
23729616-C-T 21567730-C-T FT225162 +
7377-G-C +
22318646-C-T 20156760-C-T BY217377 DYZ19 *
22303010-A-T 20141124-A-T BY10293 DYZ19 *
22430367-G-A 20268481-G-A DYZ19 *
21336075-A-G 19174189-A-G **
22602482-A-G 20440596-A-G **
21002540-T-TCC 18840654-T-TCC P4_Dst **
23007273-T-C 20845387-T-C **
22602474-T-C 20440588-T-C **
7132523-G-T 7264482-G-T **
18549456-A-G 16437576-A-G **
18549455-C-T 16437575-C-T **
3472481-T-C 3604440-T-C FT223242 **
3543112-A-G 3675071-A-G **
4368910-A-G 4500869-A-G **
4536046-G-A 4668005-G-A **
4744605-C-T 4876564-C-T **
5037958-C-T 5169917-C-T **
5346287-T-A 5478246-T-A **
5569001-A-C 5700960-A-C FT223556 **
5889316-T-C 6021275-T-C **
8102715-A-T 8234674-A-T **
8561618-C-CCA 8693577-C-CCA 8×CA**
8815864-C-A 8947823-C-A **
13556060-A-T 11400384-A-T **
13719090-G-C 11563414-G-C **
14157432-A-G 12036726-A-G FT224135 **
14739145-A-G 12627213-A-G **
14765037-C-A 12653106-C-A **
14936181-T-G 12824246-T-G **
14961431-G-C 12849506-G-C **
15050081-A-T 12938172-A-T **
15109408-AT-A 12997495-AT-A 9×T**
15142194-C-T 13030281-C-T **
15450096-A-G 13338216-A-G **
16973684-A-C 14861804-A-C **
17813021-A-G 15701141-A-G **
19788357-TG-T 17676477-TG-T P5_Prx **
20646691-G-T 18484805-G-T P4_Prx **
21477176-CCT-C 19315290-CCT-C **
21651698-G-A 19489812-G-A **
22467471-G-C 20305585-G-C DYZ19 **
22518252-C-T 20356366-C-T FT356161 **
22624644-C-T 20462758-C-T FTA21663 **
22765891-A-G 20604005-A-G **
23427150-G-GA 21265264-G-GA 8×A**
23517864-T-C 21355978-T-C **
23824460-C-A 21662574-C-A FT225179 **
24425538-T-C 22279391-T-C **
27823752-C-T 25677605-C-T P1_Y2 **
27886973-G-A 25740826-G-A P1_Y2 **
27946586-A-C 25800439-A-C P1_Y2 **
28602339-C-T 26456192-C-T **
59027271-C-T 56881124-C-T ***
22300744-G-T 20138858-G-T DYZ19 ***
15846644-AT-A 13734764-AT-A 10×T***
10744970-TTCCAC-T ***
7623774-TAA-T 7755733-TAA-T 11×A***
28500808-T-C 26354661-T-C ***
6634283-G-T 6766242-G-T ***
14523354-G-A 12411555-G-A ***
13465633-C-G 11309957-C-G ***
16608673-GGTGTGT-G 14496793-GGTGTGT-G 16×GT***
5633493-GTC-G 5765452-GTC-G ***
18096255-G-A 15984375-G-A ***
28734353-A-T 26588206-A-T ***
13811101-A-G 11690395-A-G ***
23802043-A-G 21640157-A-G ***
2738763-CTTTT-C,CT 2870722-CTTTT-C,CT 17×T***
3848611-CA-C 3980570-CA-C ***
4028946-A-G 4160905-A-G ***
4036707-AT-A 4168666-AT-A ***
4046464-T-C 4178423-T-C ***
4435584-T-A 4567543-T-A ***
4755004-A-G 4886963-A-G FT409710 ***
4787608-T-C 4919567-T-C ***
4795027-A-AT 4926986-A-AT 9×T***
5503874-A-G 5635833-A-G ***
5967499-A-AAAAAC 6099458-A-AAAAAC 4×AAAAC***
6045284-G-T 6177243-G-T ***
6346317-T-C 6478276-T-C ***
6997561-T-C 7129520-T-C ***
7034474-CAAAA-C,CAAAAA 7166433-CAAAA-C,CAAAAA 17×A***
7292481-C-T 7424440-C-T ***
7516221-TAC-T 7648180-TAC-T ***
7621436-G-A 7753395-G-A ***
7869256-T-C 8001215-T-C ***
7886437-G-A 8018396-G-A ***
13465532-C-G 11309856-C-G ***
14215072-A-C 12094366-A-C ***
14702927-A-G 12590993-A-G ***
15324608-T-C 13212726-T-C ***
15895349-G-C 13783469-G-C ***
16601277-A-G 14489397-A-G ***
16763890-T-C 14652010-T-C ***
16766076-C-T 14654196-C-T ***
16814051-T-C 14702171-T-C ***
17004618-C-T 14892738-C-T 14×A***
17230162-TAA-T,TAAA 15118282-TAA-T,TAAA 14×A***
18139108-TG-T 16027228-TG-T ***
18211738-GT-G 16099858-GT-G ***
19389698-C-T 17277818-C-T ***
21737970-C-T 19576084-C-T ***
21747653-A-G 19585767-A-G ***
21947463-A-G 19785577-A-G ***
22425243-T-C 20263357-T-C DYZ19 ***
22442791-A-T 20280905-A-T DYZ19 ***
22573287-T-C 20411401-T-C ***
22854563-G-A 20692677-G-A ***
22902108-CA-C,CAAA 20740222-CA-C,CAAA 17×A***
23083581-T-C 20921695-T-C ***
23517227-G-T 21355341-G-T ***
24355627-C-T 22209480-C-T ***
28524172-T-A 26378025-T-A ***
28627536-GC-G 26481389-GC-G ***

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.