Hubball

BigY3: 665177

Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > Z195/S355 > Z198 > Z46513 > L165/S68 > FGC29987 > BY3224

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
665177
58981155-C-A 56835008-C-A A*
56836039-A-C A*
28816684-A-G 26670537-A-G A*
20941154-A-AT 18779268-A-AT P4_Dst 10×TA*
10839031-A-C FT433547 A*
13686953-G-T 11531277-G-T A*
19573422-A-G 17461542-A-G P5_Prx YA*
19910299-C-G 17798419-C-G P5_Prx A*
20662477-A-G 18500591-A-G P4_Prx A*
20791366-C-T 18629480-C-T P4_Prx A*
20981701-T-C 18819815-T-C P4_Dst A*
23715036-C-T 21553150-C-T A*
25880811-C-T 23734664-C-T P1_Y1 A*
26093417-G-A 23947270-G-A P1_Y1 A*
2888351-C-G 3020310-C-G Y81721Y81721 YY+
10967552-C-A FT56484 +
3415676-A-G 3547635-A-G FT112845 +
5038338-T-C 5170297-T-C FT75099 +
5111784-C-T 5243743-C-T FT75138 +
5184252-A-T 5316211-A-T FT114217 +
5375593-T-A 5507552-T-A FT75249 +
5392450-A-G 5524409-A-G FT114370 +
6180191-G-A 6312150-G-A FT75520 IR3_Dst +
6921736-A-AT 7053695-A-AT +
7195088-A-G 7327047-A-G FT115348 YY+
7605401-T-C 7737360-T-C FT75787 YY+
8303427-G-A 8435386-G-A FT75869 YY+
8478578-C-A 8610537-C-A FT75890 YY+
8497224-G-T 8629183-G-T FT75891 YY+
8533373-C-T 8665332-C-T FT75900 YY+
8604168-T-C 8736127-T-C FT75907 YY+
9006630-G-A 9169021-G-A FT116056 Y+
9523095-G-A 9685486-G-A FT76018 +
9986840-C-A 10149231-C-A FT124726 Y+
10869171-T-C FT124725 +
13869720-G-T 11749014-G-T FT76075 +
13954785-A-G 11834079-A-G FT76127 Y+
12373561-C-T FT116710 +
14516728-TTTG-T 12404929-TTTG-T +
14553193-T-G 12441394-T-G FT76296 YY+
16049023-G-A 13937143-G-A FT76529 YY+
16265063-C-G 14153183-C-G FT76557 YY+
16402970-C-T 14291090-C-T FT117494 YY+
16899807-G-A 14787927-G-A FT76655 YY+
17201781-G-A 15089901-G-A FT117841 YY+
18033708-AT-A 15921828-AT-A +
18985291-G-A 16873411-G-A FT76984 YY+
19264935-T-TA 17153055-T-TA +
19423149-C-G 17311269-C-G FT77071 YY+
19556572-A-G 17444692-A-G FT77092 Y+
21266361-G-C 19104475-G-C FT77124 YY+
21321107-T-C 19159221-T-C FT77135 Y+
21892047-GAAC-G 19730161-GAAC-G +
21932259-A-G 19770373-A-G FT77274 YY+
21990534-C-T 19828648-C-T FT77283 YY+
22440441-T-A 20278555-T-A FT124729 DYZ19 +
22473351-T-C 20311465-T-C FT124728 DYZ19 +
22783357-T-C 20621471-T-C FT77374 YY+
22935164-T-C 20773278-T-C FT77412 YY+
23429331-T-C 21267445-T-C FT77484 YY+
23850183-A-G 21688297-A-G FT77531 Y+
28537830-A-T 26391683-A-T FT77602 Y+
22288948-T-A 20127062-T-A DYZ19 *
22422264-G-T 20260378-G-T DYZ19 *
13540253-A-AACAC 11384577-A-AACAC 23×AC*
8774716-T-TTGTG 8906675-T-TTGTG 17×TG*
10837808-ATCCATTCCAT-A *
10777933-CTCCATTCCAT-C *
25530750-C-T 23384603-C-T P1_gr1 *
19015490-C-T 16903610-C-T **
22473720-C-T 20311834-C-T Z4125 DYZ19 **
22473738-C-CAG 20311852-C-CAG DYZ19 **
26834849-GAAGA-G 24688702-GAAGA-G P1_g2 **
27263225-G-T 25117078-G-T P1_g3 **
22683518-G-A 20521632-G-A **
4412347-A-T 4544306-A-T **
13608647-CAAAAAAAA-C 11452971-CAAAAAAAA-C 27×A**
3142891-A-G 3274850-A-G **
4177516-AT-A 4309475-AT-A **
5244286-G-C 5376245-G-C **
6641761-G-T 6773720-G-T **
6997415-A-G 7129374-A-G FT153072 **
7969972-C-T 8101931-C-T **
8091846-T-C 8223805-T-C **
10003114-G-T 10165505-G-T **
13270568-C-G 11114892-C-G **
13533315-A-C 11377639-A-C FT124727 **
13623118-C-T 11467442-C-T **
14289088-A-G 12168382-A-G **
14695992-CAAAAAAAAAAAAA-C 12584058-CAAAAAAAAAAAAA-C 30×A**
15149727-C-T 13037814-C-T **
15297284-ATTTTTTTT-A 13185383-ATTTTTTTT-A 27×T**
15791588-A-G 13679708-A-G **
16581558-A-G 14469678-A-G **
17379756-G-A 15267876-G-A FT154321 **
18970056-T-C 16858176-T-C **
22440778-C-G 20278892-C-G DYZ19 **
22473721-G-C 20311835-G-C BY51594 DYZ19 **
22473733-G-A 20311847-G-A DYZ19 **
24759104-A-G 22612957-A-G P3_b2 **
27263228-A-C 25117081-A-C P1_g3 **
35502-T-A **
35506-T-A **
14062010-C-CA 11941304-C-CA 34×A***
21118158-T-TAC 18956272-T-TAC FGC5438 22×AC***
5904031-CAAAAAAAAAA-C 6035990-CAAAAAAAAAA-C 27×A***
13459337-A-T 11303661-A-T ***
13540959-T-A 11385283-T-A ***
4794855-CTTT-C 4926814-CTTT-C 21×T***
13459257-A-C 11303581-A-C ***
23196176-GTTT-G 21034290-GTTT-G 20×T***
13469960-A-T 11314284-A-T ***
20424749-G-GAAGA 18262863-G-GAAGA P5_Dst 7×AAGA***
5641665-GA-G 5773624-GA-G 11×A***
3226686-TA-T 3358645-TA-T 10×A***
13469394-A-T 11313718-A-T ***
5642431-G-GA 5774390-G-GA 10×A***
9924360-C-A 10086751-C-A ***
6658264-AT-A 6790223-AT-A 10×T***
15498019-C-T 13386139-C-T ***
13459268-T-A 11303592-T-A ***
17313268-CTGTACTGTAT-C,CTGTATTGTAT 15201388-CTGTACTGTAT-C,CTGTATTGTAT ***
3327856-T-TA 3459815-T-TA ***
3327862-AT-A 3459821-AT-A ***
16842867-ATGTGTG-A,ATG 14730987-ATGTGTG-A,ATG 22×TG***
4481119-A-G 4613078-A-G ***
4841480-G-T 4973439-G-T ***
5872966-G-A 6004925-G-A ***
9231927-A-G 9394318-A-G ***
9524099-A-G 9686490-A-G ***
14673385-T-C 12561451-T-C ***
15497999-G-A 13386119-G-A ***
15791585-C-T 13679705-C-T ***
19339976-T-C 17228096-T-C ***
21788597-T-G 19626711-T-G ***
21788615-T-C 19626729-T-C ***
21788632-A-G 19626746-A-G ***
21846526-C-T 19684640-C-T ***
23537447-A-T 21375561-A-T ***
24600356-C-T 22454209-C-T P3_t2 ***
26093213-G-C 23947066-G-C P1_Y1 ***

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.