Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > L2/S139 > Z367/S255 > L20/S144 > Z1909 > Y6789 > Y15103 > Y15104 > FT256025

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 STR1kG
NA12005
Manual
Edits
19183814-C-CTTT 17071934-C-CTTT 28×T+
20065925-C-G 17954045-C-G Y130632 P5_Gap +
13287973-A-C 11132297-A-C +
13494558-T-A 11338882-T-A +
13494561-T-A 11338885-T-A +
14533041-G-C 12421242-G-C Y+
15047298-TA-T 12935388-TA-T +
15290971-TG-T 13179070-TG-T +
16080277-G-A 13968397-G-A Y+
17608566-G-A 15496686-G-A YY+
17923922-C-T 15812042-C-T YY+
18735674-C-CTTTT 16623794-C-CTTTT 24×T+
19469872-T-TCTC 17357992-T-TCTC +
19563435-G-C 17451555-G-C FT302203 Y+
20985099-C-T 18823213-C-T P4_Dst +
13256056-TC-T 11100380-TC-T +
21156831-G-GTT 18994945-G-GTT 19×T+
21156850-T-TTTTG 18994964-T-TTTTG +
21227375-C-CTTT 19065489-C-CTTT 22×T+
21435372-GA-G 19273486-GA-G +
21824255-C-CAAA 19662369-C-CAAA 30×A+
21919403-TC-T 19757517-TC-T +
22256845-AC-A 20094959-AC-A DYZ19 +
22288246-T-C 20126360-T-C DYZ19 +
27782675-T-TGTG 25636528-T-TGTG P1_Y2 +
28604285-T-G 26458138-T-G +
28747705-A-ATTTTTT 26601558-A-ATTTTTT 27×T+
58870509-T-TC 56720360-C-CG +
13287944-C-CAT 11132268-C-CAT +
13222699-A-C 11067023-A-C +
7270276-C-CTTT 7402235-C-CTTT 25×T+
22011557-C-CAA 19849671-C-CAA 21×A+
8184333-CTCTGAATGTTATAAACA-C 8316292-CTCTGAATGTTATAAACA-C +
3838601-C-CTTT 3970560-C-CTTT 31×T+
7917140-T-A 8049099-T-A FT300278 YY+
14019148-C-A 11898442-C-A FT300765 YY+
15305892-G-T 13193994-G-T YY+
17725661-A-G 15613781-A-G Y+
18065253-G-T 15953373-G-T YY+
21914797-G-T 19752911-G-T Y+
22904745-G-C 20742859-G-C FT302754 YY+
23387782-T-C 21225896-T-C FT302885 YY+
13222667-G-A 11066991-G-A +
28798957-G-GT 26652810-G-GT +
22827084-T-C 20665198-T-C S24753 YY+
9968209-GAT-G 10130600-GAT-G +
2806046-TG-T 2938005-TG-T +
2909234-C-A 3041193-C-A YY16×A+
3099048-A-T 3231007-A-T FT316066 +
4067764-A-C 4199723-A-C +
4241777-A-C 4373736-A-C FT319997 +
4444419-C-T 4576378-C-T FT320673 +
5138569-C-A 5270528-C-A +
5484428-T-G 5616387-T-G FT324055 +
5604828-T-G 5736787-T-G FT324460 +
7196045-TC-T 7328004-TC-T +
8005643-G-A 8137602-G-A Y+
9398653-G-GC 9561044-G-GC +
9921217-A-G 10083608-A-G Y+
59030475-C-CAAAA 56884328-C-CAAAA +

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
Manual21527519-T-TA19365633-T-TA3 reads, all match the hg19 reference sequence.
Manual13273625-A-C11117949-A-CYFull: 2A 8C
Manual19829809-T-C17717929-T-C4C, 6T
Manual22225395-C-T20063509-C-T15C, 4T, 2 misaligned.
Manual22233129-T-A20071243-T-A6A, 6T, 1G
Manual22265543-C-T20103657-C-T7C, 4T
Manual22426263-T-A20264377-T-A8A, 7T. Although there are mixed reads at this position, I think this is actually the position of the mutation, because of a nearby INDEL difference between regions.
Manual25580322-A-T23434175-A-T3A, 3T
Manual25808801-T-C23662654-T-C1C, 3T
Manual22288312-G-A20126426-G-A7A, 2 misaligned reads.
Manual9810794-C-.9973185-C-.14C, 1A
Manual14231292-A-.12110586-A-.11A
Manual17833906-GATA-G15722026-GATA-G5 reads, all show the deletion. The reference sequence has two copies of ATA at this position.
Manual18362400-T-C16250520-T-C2T 5C
Manual20016582-G-T17904702-G-T2G, 2T
Manual20018917-A-T17907037-A-T5A, 3T, 2 misaligned reads.
Manual14639737-G-GA12527806-G-GA5 reads, all with the insertion.
Manual9731900-G-A9894291-G-A1A



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