Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > L2/S139 > ZZ48 > ZZ56 > Y84137

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
597557
58980228-G-C 56834081-G-C A*
4208305-A-G 4340264-A-G A*
5229038-A-C 5360997-A-C A*
3617685-A-G 3749644-A-G A*
13798939-A-G 11678233-A-G DYZ17 A*
58977887-G-A 56831740-G-A A*
22310926-T-G 20149040-T-G DYZ19 A*
13450634-C-T 11294958-C-T A*
20539883-G-GT 18377997-G-GT P5_Dst 10×TA*
56831314-T-C A*
2964986-G-A 3096945-G-A A*
6238414-G-A 6370373-G-A IR3_Dst A*
13449540-T-G 11293864-T-G A*
13449927-C-A 11294251-C-A A*
13451559-C-A 11295883-C-A A*
16115219-A-G 14003339-A-G P8_Prx A*
19759324-C-CCT 17647444-C-CCT P5_Prx A*
22310266-C-A 20148380-C-A DYZ19 A*
25861497-A-G 23715350-A-G P1_Y1 A*
26000442-T-C 23854295-T-C P1_Y1 A*
26289415-T-C 24143268-T-C P1_Y1 A*
26298099-G-A 24151952-G-A P1_Y1 A*
26301006-T-C 24154859-T-C P1_Y1 A*
28817867-G-A 26671720-G-A A*
56830933-A-C A*
56831349-G-T A*
56832625-G-T A*
56833621-C-T A*
21480439-C-T 19318553-C-T BY192766 YY+
17605099-C-A 15493219-C-A FT134370 YY+
16542906-G-A 14431026-G-A YP4188 YY+
10668223-CCCACT-C +
3041590-TA-T 3173549-TA-T +
3177593-AT-G 3309552-AT-G +
4084704-G-C 4216663-G-C FT132651 +
4470154-C-T 4602113-C-T FT132764 +
4678989-A-T 4810948-A-T FT132829 +
4856404-C-T 4988363-C-T FT132879 +
5364243-G-A 5496202-G-A FT133002 +
5473994-G-T 5605953-G-T FT133032 +
5642882-G-T 5774841-G-T FT133090 +
6050346-A-G 6182305-A-G FT133221 +
6424619-T-C 6556578-T-C FT133271 +
7617181-C-A 7749140-C-A BY192467 YY+
7771527-G-A 7903486-G-A BY192472 YY+
8875029-T-G 9006988-T-G FT133636 Y+
9399436-C-G 9561827-C-G BY192534 YY+
9421764-G-A 9584155-G-A BY192535 YY+
9434585-C-T 9596976-C-T BY192536 YY+
10942092-C-T FT200107 +
11037912-C-T FT200060 +
13198421-G-A 11042745-G-A FT440580 +
13539705-A-G 11384029-A-G FT200106 +
11651675-G-A FT200061 DYZ17 +
11677502-G-A FT200062 DYZ17 +
13903770-A-C 11783064-A-C FT133770 Y+
14807986-T-A 12696057-T-A BY192585 YY+
15027275-T-C 12915363-T-C FT133981 YY+
15077007-A-G 12965097-A-G BY192600 YY+
16187319-G-A 14075439-G-A BY192634 YY+
16250203-G-A 14138323-G-A FT134134 YY+
17088828-C-T 14976948-C-T FT134290 Y+
17283769-A-G 15171889-A-G FT134314 YY+
17303335-A-G 15191455-A-G BY192673 YY+
17948384-A-T 15836504-A-T FT134422 YY+
19156990-A-G 17045110-A-G BY192730 YY+
19236983-C-T 17125103-C-T FT134584 YY+
21136561-G-C 18974675-G-C BY192748 YY+
21496267-C-T 19334381-C-T FT134711 Y+
21900367-T-C 19738481-T-C BY192778 YY+
21946192-A-G 19784306-A-G FT134792 YY+
22138083-T-C 19976197-T-C BY192790 YY+
22173816-A-G 20011930-A-G BY192791 YY+
22506199-G-C 20344313-G-C BY225170 DYZ19 +
23964231-A-G 21818084-A-G BY192831 Y+
28590046-G-T 26443899-G-T +
3443749-T-C 3575708-T-C *
4012941-C-A 4144900-C-A *
4134141-T-C 4266100-T-C *
5139818-T-A 5271777-T-A *
5589971-C-T 5721930-C-T *
5721612-A-G 5853571-A-G *
5733798-T-C 5865757-T-C *
2964656-C-A 3096615-C-A *
3534976-A-G 3666935-A-G *
3715061-T-C 3847020-T-C *
3718923-A-G 3850882-A-G *
4030025-C-A 4161984-C-A *
4185742-A-C 4317701-A-C *
4202760-G-T 4334719-G-T *
5333951-G-A 5465910-G-A *
20984748-TTATCTATC-T,TTATC 18822862-TTATCTATC-T,TTATC P4_Dst 12×TATC*
17014810-C-CTAAA 14902930-C-CTAAA 6×TAAA*
10777509-TATTCCATTCC-T *
3509369-A-G 3641328-A-G *
4210605-GC-G 4342564-GC-G *
3243263-C-T 3375222-C-T *
3475353-A-G 3607312-A-G *
3899570-A-T 4031529-A-T *
4012933-T-A 4144892-T-A *
4154334-AG-A 4286293-AG-A *
4159065-T-C 4291024-T-C FT191592 *
4179303-G-A 4311262-G-A *
5747863-T-C 5879822-T-C *
13204256-G-A 11048580-G-A *
22294769-C-A 20132883-C-A DYZ19 *
28802074-T-TGAATG 26655927-T-TGAATG 4×GAATG*
6167025-CTGTG-C 6298984-CTGTG-C IR3_Dst 12×TG**
24387362-T-C 22241215-T-C FT26964 **
5936155-TATAG-T 6068114-TATAG-T **
4459991-T-TTA 4591950-T-TTA 9×TA**
22631690-C-CA 20469804-C-CA 22631690-C-CA 8×A**
2806195-ATTTTTT-A 2938154-ATTTTTT-A 36×T**
19950128-A-T 17838248-A-T P5_Prx **
9544147-G-GTT 9706538-G-GTT IR3_Prx **
5936148-A-G 6068107-A-G **
5936150-A-G 6068109-A-G **
23311290-C-G 21149404-C-G **
3443764-TTTATTATTATTA-T 3575723-TTTATTATTATTA-T 12×TTA**
9434408-G-C 9596799-G-C **
13223497-AGAAGGG-A 11067821-AGAAGGG-A **
17485830-A-G 15373950-A-G **
17628987-C-A 15517107-C-A **
19745560-G-GAA 17633680-G-GAA P5_Prx 11×A**
22245481-AC-A 20083595-AC-A DYZ19 **
23102100-G-A 20940214-G-A **
24892898-A-G 22746751-A-G BY226381 g1 **
22245493-A-C 20083607-A-C DYZ19 ***
3651711-G-C 3783670-G-C ***
5221956-G-T 5353915-G-T ***
13452332-GATTCCATTCCATTCCATTCCATTCCATTCC-G 11296656-GATTCCATTCCATTCCATTCCATTCCATTCC-G 12×ATTCC***
5653620-A-G 5785579-A-G ***
13468313-C-A 11312637-C-A ***
13468297-A-T 11312621-A-T ***
7270276-CTTT-C,CTTTT 7402235-CTTT-C,CTTTT 25×T***
3916934-CAAAA-C 4048893-CAAAA-C 20×A***
16505988-CTTTTT-C 14394108-CTTTTT-C 31×T***
18589697-ATT-A,ATTT 16477817-ATT-A,ATTT 18×T***
18951664-G-A 16839784-G-A ***
2833178-CTT-C,CT 2965137-CTT-C,CT 19×T***
4174962-CTTTT-C 4306921-CTTTT-C 31×T***
5936146-A-G 6068105-A-G ***
23311295-C-T 21149409-C-T ***
13932048-C-T 11811342-C-T ***
18635341-TA-T 16523461-TA-T ***
17625131-T-TG 15513251-T-TG ***
5567334-A-G 5699293-A-G ***
4154408-T-G 4286367-T-G ***
4636105-AAAT-A,AAA 4768064-AAAT-A,AAA ***
5095471-T-C 5227430-T-C ***
6138046-T-C 6270005-T-C IR3_Dst ***
6138104-C-CAT 6270063-C-CAT IR3_Dst ***
6620144-C-CTTG 6752103-C-CTTG 7×TTG***
13932042-T-C 11811336-T-C ***
13932043-G-A 11811337-G-A ***
13932044-C-T 11811338-C-T FT248815 ***
18008688-GTTTTTT-G 15896808-GTTTTTT-G P7_Dst 17×T***
22229957-A-G 20068071-A-G DYZ19 ***
22293474-T-C 20131588-T-C BY216355 DYZ19 ***
22447266-C-T 20285380-C-T DYZ19 ***
23311291-A-ACG 21149405-A-ACG ***
23772621-A-AT 21610735-A-AT 8×T***
24508205-CTTTT-C,CT 22362058-CTTTT-C,CT 22×T***
26921972-A-G 24775825-A-G P1_r3 ***

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.