Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > DF21/S192 > FGC3213 > ZZ1 > S3058 > S424 > S426 > S190 > FGC3215 > FGC3216 > FGC3197 > Y82590 > BY39223

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
B93450
FTDNA
B93450
BigY2
B93450
Manual
Edits
17988382-G-A 15876502-G-A P7_Prx YA****A*
13692057-G-C 11536381-G-C DYZ17 A*
13488579-C-A 11332903-C-A A*
20775159-G-T 18613273-G-T P4_Prx A*
20216469-G-A 18054583-G-A P5_Dst A*
19572106-C-A 17460226-C-A P5_Prx YA*
19618982-C-A 17507102-C-A P5_Prx YA*
19620611-C-A 17508731-C-A P5_Prx YA*
19647383-C-A 17535503-C-A P5_Prx A*
19679817-C-A 17567937-C-A P5_Prx A*
19803259-T-C 17691379-T-C P5_Prx A*
19889780-C-A 17777900-C-A P5_Prx A*
20359632-T-C 18197746-T-C P5_Dst A*
20417766-G-T 18255880-G-T P5_Dst A*
20504598-G-A 18342712-G-A P5_Dst A*
20710491-C-A 18548605-C-A P4_Prx A*
20896933-G-T 18735047-G-T P4_Dst A*
20989006-G-T 18827120-G-T P4_Dst A*
19811645-G-T 17699765-G-T P5_Prx A*
56830936-T-A A*
5575471-GTA-G 5707430-GTA-G +
22782984-G-A 20621098-G-A Z34129 YY+
14763027-G-T 12651096-G-T BY97436 YY+++
16511667-C-T 14399787-C-T BY108272 YY+++
17791294-T-G 15679414-T-G BY117409 YY+++
22942903-A-G 20781017-A-G BY141935 YY+++
23257621-T-C 21095735-T-C BY144168 YY+++
22484016-TC-T 20322130-TC-T Z46375Z46375 DYZ19 **
18554294-C-A 16442414-C-A **
4729083-G-T 4861042-G-T ****
59026041-TTC-T 56879894-TTC-T **
58981966-C-A 56835819-C-A **
58994926-A-T 56848779-A-T **
17452196-G-T 15340316-G-T **
17643937-C-A 15532057-C-A **
23277215-C-A 21115329-C-A **
11012297-G-A **
6858592-C-A 6990551-C-A 25×T**
3156090-C-A 3288049-C-A **
3385350-GTGAC-G 3517309-GTGAC-G **
3751019-G-A 3882978-G-A **
4390103-G-T 4522062-G-T **
5012676-C-A 5144635-C-A **
5053279-C-A 5185238-C-A **
6434086-C-A 6566045-C-A **
6434116-C-A 6566075-C-A **
6648146-G-T 6780105-G-T **
6790265-C-A 6922224-C-A **
7256003-G-T 7387962-G-T **
8325422-A-AT 8457381-A-AT **
10746929-ATTCCATTCTGTTC-A **
10820760-A-G **
10844842-C-A **
10859547-C-A **
10869979-T-C **
10869989-T-A **
10869999-T-C **
10887300-C-A **
10892702-C-A **
10899947-A-G **
10899961-C-ATGTTT **
10899992-T-G **
10934510-C-A **
10938007-C-A **
10943821-C-A **
10956573-C-G **
10971150-C-A **
10973007-C-A **
10992582-C-A **
10992589-C-T **
11012458-C-A **
13402394-T-C 11246718-T-C **
13457741-C-CATTACGGATG 11302065-C-CATTACGGATG **
13584142-C-A 11428466-C-A **
13726128-C-A 11570452-C-A DYZ17 **
11649376-T-A DYZ17 **
11667108-C-A FT450975 DYZ17 **
14270960-C-A 12150254-C-A **
14271033-C-A 12150327-C-A **
14279003-G-T 12158297-G-T **
14425736-C-A 12305011-C-A **
14485144-G-T 12364413-G-T **
14530900-G-GTA 12419101-G-GTA **
14678413-C-A 12566479-C-A **
14992711-G-A 12880796-G-A **
17225912-G-A 15114032-G-A **
17324104-T-A 15212224-T-A 4×AGGA**
18187993-C-A 16076113-C-A **
18365168-C-A 16253288-C-A P6_Prx **
19271375-C-A 17159495-C-A **
20554518-G-T 18392632-G-T P5_Dst **
21297452-G-T 19135566-G-T **
22291184-C-A 20129298-C-A DYZ19 **
28633653-G-T 26487506-G-T **
28670048-C-A 26523901-C-A **
56832512-C-A **
56850433-C-A **
5042161-GAT-G 5174120-GAT-G **
2921447-A-T 3053406-A-T FT94858 **
3536697-C-CA 3668656-C-CA 9×A**
4163725-G-A 4295684-G-A **
7346260-T-C 7478219-T-C **
9492125-T-A 9654516-T-A **
13457364-T-TTCGAG 11301688-T-TTCGAG **
14161351-A-T 12040645-A-T **
14163746-A-G 12043040-A-G **
14632946-T-C 12521015-T-C **
19768628-A-T 17656748-A-T P5_Prx **
22151274-A-G 19989388-A-G **
22511541-A-G 20349655-A-G DYZ19 **
22562579-T-C 20400693-T-C **
23027941-T-C 20866055-T-C **
58976679-TTGCATTCTGC-T 56830532-TTGCATTCTGC-T ***
13863964-T-A 11743258-T-A DYZ17 ***
13863965-G-T 11743259-G-T FGC37886 DYZ17 ***
22475821-T-A 20313935-T-A BY31041 DYZ19 ***
13309070-T-C 11153394-T-C ***
58978149-G-T 56832002-G-T ***
21412246-C-A 19250360-C-A ***
13864004-A-T 11743298-A-T DYZ17 ***
13864011-G-A 11743305-G-A DYZ17 ***
13864020-A-G 11743314-A-G DYZ17 ***
9974295-C-A 10136686-C-A A16276 ***
19071514-C-CCT 16959634-C-CCT ***
13460954-A-G 11305278-A-G ***
7237471-C-A 7369430-C-A ***
13745336-AATGGAACGGAATTGAATGTC-A,AATGGA 11589660-AATGGAACGGAATTGAATGTC-A,AATGGA DYZ17 ***
28801681-G-A 26655534-G-A ***
8104741-TA-T 8236700-TA-T 8×A***
2718881-CTTTTTT-C,CTTTTT 2850840-CTTTTTT-C,CTTTTT 21×T***
2762534-C-A 2894493-C-A ***
4687703-T-C 4819662-T-C ***
5613068-C-A 5745027-C-A BY58764 ***
6129484-C-A 6261443-C-A ***
6666368-C-A 6798327-C-A ***
7134509-C-A 7266468-C-A ***
7270300-TTGA-T 7402259-TTGA-T ***
8075701-C-A 8207660-C-A ***
8810980-C-A 8942939-C-A ***
9147068-G-T 9309459-G-T ***
9973843-C-A 10136234-C-A ***
10776520-TCCATTC-T,TCCTTTC ***
10896304-A-T FT178493 ***
11031525-C-A ***
13194054-A-ACT 11038378-A-ACT ***
13226633-C-A 11070957-C-A FT441310 ***
13455087-T-A 11299411-T-A ***
13457845-CCATTA-C 11302169-CCATTA-C ***
13461008-A-T 11305332-A-T ***
13461056-C-T 11305380-C-T ***
13692066-A-G 11536390-A-G DYZ17 ***
11643759-GAA-G DYZ17 ***
13810877-T-C 11690171-T-C DYZ17 ***
13909961-G-T 11789255-G-T ***
13937402-A-G 11816696-A-G ***
13937446-C-A 11816740-C-A ***
14509942-C-A 12398147-C-A ***
14592878-C-A 12481078-C-A ***
14704567-C-A 12592633-C-A ***
15160323-C-A 13048409-C-A ***
15260684-CTTTTTTTT-C 13148768-CTTTTTTTT-C 25×T***
15422122-C-A 13310242-C-A ***
15605382-C-A 13493502-C-A ***
15876535-T-TAA 13764655-T-TAA 15×A***
16295204-C-A 14183324-C-A ***
17014101-ATC-A 14902221-ATC-A ***
17589016-G-T 15477136-G-T ***
18047319-C-A 15935439-C-A ***
18204974-C-A 16093094-C-A ***
18420366-G-GA 16308486-G-GA P6_Gap 9×A***
18661487-C-A 16549607-C-A ***
18672689-C-A 16560809-C-A ***
18685473-C-A 16573593-C-A ***
19438657-C-A 17326777-C-A ***
21283611-C-A 19121725-C-A ***
21531480-C-A 19369594-C-A ***
21603444-GA-G,GAA 19441558-GA-G,GAA 13×A***
22786930-C-A 20625044-C-A ***
22801944-T-C 20640058-T-C ***
22833950-C-A 20672064-C-A ***
23081968-C-A 20920082-C-A ***
23142641-C-A 20980755-C-A ***
56763539-A-T ***
56826562-C-A,T ***
13460962-G-A 11305286-G-A ***
7392188-TTGTGTG-T 7524147-TTGTGTG-T 20×TG***
13488578-C-A 11332902-C-A ***
13488585-C-T 11332909-C-T ***
56835402-AGTACATTCCACTCCACTCCACTCCT-AGTACGTTCCCCTCCACTCCACTCCA,T ***
4046064-T-C 4178023-T-C ***
4140897-A-T 4272856-A-T ***
6981255-A-T 7113214-A-T ***
7149323-CTT-C 7281282-CTT-C 13×T***
13457356-C-G 11301680-C-G ***
13467591-T-C 11311915-T-C ***
13564860-A-G 11409184-A-G ***
14769018-CT-C 12657087-CT-C ***
15221083-ATTTT-A,ATTT 13109169-ATTTT-A,ATTT 18×T***
16687881-T-A 14576001-T-A ***
17648536-ATTT-A,AT 15536656-ATTT-A,AT 22×T***
23424989-T-C 21263103-T-C ***
28522376-CTTT-C,CTTTT 26376229-CTTT-C,CTTTT 18×T***
28686423-C-CAA 26540276-C-CAA 21×A***

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.

Mutation Notes:

Kit POSITION-REF-ALT (hg19) POSITION-REF-ALT (hg38) Note
Manual20007955-A-G17896075-A-G2A 2G