Tree Position

A0-T-YP2191 > P305[A1] > A1b > BT/A1b2 > M168/PF1416[CT] > P143[CF] > M89/PF2746[F] > F1329/M3658[GHI > F929[HIJK] > IJK > K > M526[K2] > P295[P] > M207[R] > M173[R1] > L146/M420[R1a] > M459 > M198 > M417 > Z645 > Z93 > Z94 > Z2124

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
B515481
22450631-G-T 20288745-G-T DYZ19 A+
19798982-C-T 17687102-C-T P5_Prx A*
58977331-C-T 56831184-C-T A*
20793518-G-A 18631632-G-A P4_Prx A*
56834174-T-A A*
56833483-C-A A*
24256305-A-T 22110158-A-T FT460903 P3_b1 4×ATTTA*
56829602-A-T A*
56836709-T-A A*
13450689-C-A 11295013-C-A A*
56829676-C-T A*
3617928-C-T 3749887-C-T A*
6221019-G-A 6352978-G-A IR3_Dst A*
19692210-G-A 17580330-G-A P5_Prx A*
20024799-G-A 17912919-G-A P5_Prx A*
20669170-G-T 18507284-G-T BY29937 P4_Prx A*
22224583-G-A 20062697-G-A DYZ19 A*
22224736-C-A 20062850-C-A DYZ19 A*
22224737-C-A 20062851-C-A DYZ19 A*
22274365-C-T 20112479-C-T DYZ19 A*
22290930-G-A 20129044-G-A DYZ19 A*
56832250-G-T A*
56833983-T-C A*
17951892-C-T 15840012-C-T S6669 YY+
18385597-C-A 16273717-C-A FT418562 P6_Gap +
4206491-G-C 4338450-G-C FT417340 +
4409654-TA-T 4541613-TA-T 9×A+
5022680-G-A 5154639-G-A FT417456 +
5151031-C-T 5282990-C-T FT417476 +
5329124-T-TA 5461083-T-TA 8×A+
5606999-G-A 5738958-G-A FT417527 +
5799249-G-A 5931208-G-A FT417563 +
5863501-T-A 5995460-T-A FT417570 +
5929005-T-C 6060964-T-C FT110670 +
5999320-C-G 6131279-C-G FT417595 +
6443371-C-T 6575330-C-T FT417624 +
7171073-C-T 7303032-C-T FT417700 YY+
7655292-G-A 7787251-G-A FT417746 YY+
7740294-C-T 7872253-C-T BY67259 YY+
8405457-A-C 8537416-A-C FT417832 YY+
8588085-G-A 8720044-G-A FT417864 YY+
8641392-C-G 8773351-C-G FT417874 YY+
9706569-C-T 9868960-C-T FT417958 IR3_Prx +
9759019-C-A 9921410-C-A FT417961 Y+
9925741-G-A 10088132-G-A Y+
10946398-C-A FT437711 +
13599356-GATGAA-G 11443680-GATGAA-G +
13828066-G-A 11707360-G-A BY90796 +
14068590-CG-C 11947884-CG-C +
14428526-A-G 12307801-A-G FT418103 YY+
14572306-A-C 12460506-A-C FT418123 YY+
14696303-T-A 12584369-T-A FT418137 YY+
14855857-G-A 12743923-G-A FT418151 YY+
15590019-C-T 13478139-C-T FT418232 YY+
15714737-C-T 13602857-C-T FT418251 YY+
16273588-G-A 14161708-G-A FT418293 Y+
16273589-G-A 14161709-G-A FT418294 Y+
17254054-C-G 15142174-C-G FT418423 YY+
17533051-C-A 15421171-C-A YY+
17534978-C-T 15423098-C-T Y+
17980574-G-T 15868694-G-T FT418521 Y+
18609742-T-C 16497862-T-C FT418579 YY+
18853478-C-T 16741598-C-T Y+
19032967-A-T 16921087-A-T FT418647 YY+
19307127-C-T 17195247-C-T FT418688 YY+
19472050-AG-A 17360170-AG-A FT350918 +
22120150-A-G 19958264-A-G YY+
28478591-T-G 26332444-T-G FT419104 +
59026247-C-A 56880100-C-A *
6434921-TA-T,TAA 6566880-TA-T,TAA 20×A***
17168-G-T FGC78513 *
22281060-T-G 20119174-T-G DYZ19 *
19622110-G-GCACA 17510230-G-GCACA P5_Prx 23×CA*
10868381-TTCCACTCCAC-T *
5887228-CA-C,CAA 6019187-CA-C,CAA 18×A***
3400821-C-T 3532780-C-T *
10925615-C-CTTCCA *
22278913-AG-A 20117027-AG-A DYZ19 *
26346056-A-G 24199909-A-G P1_Y1 *
13474029-A-G 11318353-A-G **
13466308-A-G 11310632-A-G **
26295252-G-A 24149105-G-A P1_Y1 **
4742540-C-T 4874499-C-T **
3102547-T-C 3234506-T-C **
3846263-TA-T 3978222-TA-T **
4286116-A-G 4418075-A-G **
4742537-A-G 4874496-A-G **
4937662-G-T 5069621-G-T 12×T**
8055218-A-T 8187177-A-T **
8812926-C-T 8944885-C-T **
13702662-T-G 11546986-T-G **
13984945-G-A 11864239-G-A **
16997494-T-C 14885614-T-C **
16997529-T-C 14885649-T-C **
18511607-T-C 16399727-T-C P6_Dst **
21913991-G-A 19752105-G-A **
22272332-G-A 20110446-G-A DYZ19 **
22362383-G-A 20200497-G-A DYZ19 **
23119059-G-A 20957173-G-A FT213656 **
24257652-C-A 22111505-C-A P3_b1 **
26487849-G-T 24341702-G-T P1_Y1 **
28409697-A-AG 26263550-A-AG P1_gr2 **
10780-G-A **
27714328-CT-C 25568181-CT-C P1_Y2 15×T***
5786608-C-CAAAAA 5918567-C-CAAAAA 20×A***
16447158-AACAC-A,AAC 14335278-AACAC-A,AAC 22×AC***
23123058-AATAT-A 20961172-AATAT-A 9×AT***
23435682-CTTTTT-C 21273796-CTTTTT-C 21×T***
19314709-ATTTT-A,ATTT 17202829-ATTTT-A,ATTT 17×T***
21919393-CT-C 19757507-CT-C 10×T***
13485622-G-C 11329946-G-C ***
13480391-A-C,T 11324715-A-C,T ***
3622966-TTGTG-T,TTG 3754925-TTGTG-T,TTG 17×TG***
56863181-C-T ***
19059747-CTTT-C,CTT 16947867-CTTT-C,CTT 25×T***
6468926-TAAA-T,TA 6600885-TAAA-T,TA 28×A***
3064243-A-T 3196202-A-T ***
6093478-G-T 6225437-G-T ***
7388670-T-C 7520629-T-C BY202570 ***
13523524-G-A 11367848-G-A ***
18231999-C-T 16120119-C-T ***
18762046-A-G 16650166-A-G ***
21276094-A-G 19114208-A-G ***
22241341-AG-A 20079455-AG-A DYZ19 ***

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.