1k Genomes
1kG: NA12777MDKA Birth:
United StatesTree Position
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 | STR | 1kG NA12777 |
|---|---|---|---|---|---|---|---|---|
| 24386624-CTA-C | 22240477-CTA-C | + | ||||||
| 2672425-T-G | 2804384-T-G | Z3029 | Y | + | ||||
| 3079353-T-C | 3211312-T-C | FGC332 Z6550 | + | |||||
| 4091520-C-T | 4223479-C-T | FGC333 Z16495 | + | |||||
| 5334611-C-A | 5466570-C-A | FT323574 | + | |||||
| 5622890-C-G | 5754849-C-G | Y8904 FGC7498 | + | |||||
| 5754780-T-G | 5886739-T-G | FT324969 | + | |||||
| 7257735-C-T | 7389694-C-T | Y70 Z5853 | Y | + | ||||
| 7304096-T-A | 7436055-T-A | Y71 Z3574 | Y | + | ||||
| 7787877-C-A | 7919836-C-A | Y72 Z5854 | Y | Y | + | |||
| 7908743-T-G | 8040702-T-G | Y73 Z5855 | Y | Y | + | |||
| 10035034-A-T | 10197425-A-T | FGC7500 | + | |||||
| 10038139-AAG-A | 10200530-AAG-A | + | ||||||
| 10067532-C-T | 10229923-C-T | Y90 Z16497 FGC334 | + | |||||
| 13938614-A-G | 11817908-A-G | Y75 Z3294 | Y | + | ||||
| 14112948-G-C | 11992242-G-C | Y | + | |||||
| 14125529-G-A | 12004823-G-A | CTS1934 | Y | Y | + | |||
| 14387161-T-C | 12266457-T-C | CTS2606 | Y | + | ||||
| 14404464-G-C | 12283761-G-C | Y76 Z3307 | Y | Y | + | |||
| 14472554-C-T | 12351823-C-T | CTS2762 | Y | Y | + | |||
| 14612514-T-TA | 12500712-T-TA | + | ||||||
| 14912952-A-G | 12801019-A-G | CTS3426 | Y | Y | + | |||
| 14933504-T-G | 12821569-T-G | Y77 Z6044 | Y | Y | + | |||
| 15224787-A-G | 13112873-A-G | CTS3844 Z3575 | Y | + | ||||
| 15483541-A-G | 13371661-A-G | Y78 Z6045 | Y | Y | + | |||
| 15772742-A-T | 13660862-A-T | Y79 Z6096 | Y | Y | + | |||
| 15973472-G-T | 13861592-G-T | Y80 Z6097 | Y | Y | + | |||
| 16319282-A-G | 14207402-A-G | Z3579 | Y | + | ||||
| 16608230-T-C | 14496350-T-C | CTS6010 | Y | Y | + | |||
| 16968510-A-C | 14856630-A-C | Z6098 | Y | Y | + | |||
| 18115762-A-T | 16003882-A-T | Z16499 FGC335 | Y | Y | + | |||
| 18393688-A-G | 16281808-A-G | L640 | P6_Gap | + | ||||
| 18828217-T-C | 16716337-T-C | CTS9329 | Y | Y | + | |||
| 18893089-CTATG-C | 16781209-CTATG-C | 4×TATG | + | |||||
| 19458595-G-A | 17346715-G-A | Y83 Z6102 | Y | Y | + | |||
| 19477108-T-C | 17365228-T-C | CTS10481 | Y | Y | + | |||
| 20836250-G-T | 18674364-G-T | Y84 Z3434 | P4_Gap | + | ||||
| 21321431-C-G | 19159545-C-G | Y85 Z3580 | Y | + | ||||
| 21599649-T-G | 19437763-T-G | Y86 Z3315 | Y | + | ||||
| 21939051-C-T | 19777165-C-T | Y87 Z6111 | Y | Y | + | |||
| 22057359-A-T | 19895473-A-T | Z6112 | Y | + | ||||
| 22472287-A-T | 20310401-A-T | BY25673 | DYZ19 | + | ||||
| 22475589-G-A | 20313703-G-A | DYZ19 | + | |||||
| 23420641-T-C | 21258755-T-C | Y88 Z3520 | Y | Y | + | |||
| 23459776-T-C | 21297890-T-C | Y89 Z3577 | Y | Y | + | |||
| 24130341-T-G | 21984194-T-G | P3_b1 | + | |||||
| 27290584-A-T | 25144437-A-T | FGC229 | P1_g3 | + | ||||
| 27976157-A-G | 25830010-A-G | BY46208 | P1_Y2 | + | ||||
| 28465712-A-C | 26319565-A-C | CTS12069 | + |
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.