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BigY3: B26763
MDKA Birth: United States > Pennsylvania

Tree Position

R-U106/S21 > Z2265 > Z18 > Y45730

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
B26763
28034738-C-T 25888591-C-T P1_Y2 A+
13462169-T-A 11306493-T-A A*
20087764-G-GAA 17975884-G-GAA P5_Dst 13×AA*
19686515-G-A 17574635-G-A P5_Prx A*
20639416-G-A 18477530-G-A P4_Prx A*
21285154-C-A 19123268-C-A FT60295 YY+
3065194-T-C 3197153-T-C FT59754 +
3111258-G-A 3243217-G-A FT59756 +
3545605-T-C 3677564-T-C FT59784 +
3563470-CTCT-C 3695429-CTCT-C +
3962423-GAC-G 4094382-GAC-G +
4070688-C-T 4202647-C-T FT59816 +
4824162-G-C 4956121-G-C FT59851 +
4824163-A-T 4956122-A-T FT59852 +
7514258-C-T 7646217-C-T FT59962 Y+
7910160-C-A 8042119-C-A FT59981 YY+
8090113-A-G 8222072-A-G FT59987 YY+
8483063-C-G 8615022-C-G FT60006 YY+
9170991-C-A 9333382-C-A FT281198 Y+
10872084-A-T FT434916 +
13200297-G-T 11044621-G-T FT440636 +
13214910-C-T 11059234-C-T FT440985 +
13952426-C-T 11831720-C-T FT60050 Y+
13960666-C-G 11839960-C-G FT451883 Y+
14059873-C-T 11939167-C-T FT60061 YY+
14311806-C-T 12191100-C-T FT60075 YY+
14409642-G-A 12288939-G-A YY+
15124544-A-G 13012631-A-G FT60104 YY+
15376189-C-T 13264309-C-T FT60111 Y+
15399647-C-A 13287767-C-A FT60114 Y+
15476975-G-A 13365095-G-A FT60117 YY+
16188889-G-A 14077009-G-A FT60151 YY+
17328806-T-G 15216926-T-G FT60194 YY+
17749506-T-C 15637626-T-C FT60210 YY+
17797656-C-A 15685776-C-A FT60214 Y+
21469763-G-A 19307877-G-A FT60306 YY+
21476932-G-A 19315046-G-A FT60307 YY+
21946820-C-T 19784934-C-T FT60333 YY+
22256441-G-C 20094555-G-C BY214398 DYZ19 +
22558363-T-G 20396477-T-G FT60346 YY+
23195111-T-A 21033225-T-A FT60369 Y+
8708375-A-ATG 8840334-A-ATG 15×TG*
22299071-A-G 20137185-A-G FT462780 DYZ19 *
5303434-G-A 5435393-G-A Z10071 **
13510223-A-G 11354547-A-G **
3459521-G-T 3591480-G-T **
23176799-A-T 21014913-A-T 11×GAAG**
10999423-GCATTC-G **
14300916-C-A 12180210-C-A **
13464360-A-G 11308684-A-G **
13464362-C-CA 11308686-C-CA **
13454843-A-AAG 11299167-A-AAG **
13464343-G-A 11308667-G-A **
4583115-CTTTTTT-C 4715074-CTTTTTT-C 22×T**
13454868-A-T 11299192-A-T **
13488093-C-T 11332417-C-T **
5787759-A-G 5919718-A-G **
5963045-A-C 6095004-A-C **
5963048-T-C 6095007-T-C **
9656854-A-G 9819245-A-G IR3_Prx **
10912281-G-T **
13429496-G-C 11273820-G-C **
13454846-C-CAGTCAATTACATTT 11299170-C-CAGTCAATTACATTT **
13464258-T-G 11308582-T-G **
14300917-C-T 12180211-C-T **
14300919-A-ATTATT 12180213-A-ATTATT **
14488492-C-G 12367761-C-G **
15268922-A-G 13157011-A-G **
16052523-C-T 13940643-C-T **
17830890-G-A 15719010-G-A **
19427527-T-A 17315647-T-A **
19438503-AAGACAAAAAAG-A 17326623-AAGACAAAAAAG-A **
20348229-C-A 18186343-C-A P5_Dst **
21324538-T-C 19162652-T-C **
22012427-C-G 19850541-C-G **
22508907-T-A 20347021-T-A DYZ19 **
22515373-T-C 20353487-T-C **
23048835-G-C 20886949-G-C **
25866322-G-T 23720175-G-T P1_Y1 **
2915010-C-T 3046969-C-T FT275507 ***
13468203-G-A 11312527-G-A ***
10055774-CAA-C 10218165-CAA-C 15×A***
5043406-CTT-C 5175365-CTT-C 13×T***
6093470-TGG-T 6225429-TGG-T 12×G***
9402776-C-A 9565167-C-A ***
5403266-CTTT-C 5535225-CTTT-C 15×T***
9402768-C-T 9565159-C-T ***
2994637-G-T 3126596-G-T ***
13487875-T-A,C 11332199-T-A,C ***
13463273-G-C 11307597-G-C ***
13717917-A-T 11562241-A-T ***
18035665-CTTTT-C,CT 15923785-CTTTT-C,CT 30×T***
7179734-GTTT-G,GTT 7311693-GTTT-G,GTT 25×T***
2808995-C-CTGTT 2940954-C-CTGTT ***
3557140-C-T 3689099-C-T ***
4764799-G-A 4896758-G-A FT321677 ***
5036648-C-T 5168607-C-T ***
6146401-T-C 6278360-T-C IR3_Dst ***
6692829-CAA-C,CA 6824788-CAA-C,CA 14×A***
13464385-A-G 11308709-A-G ***
13464393-C-A 11308717-C-A ***
13464394-T-A,C 11308718-T-A,C ***
13464401-T-C,G 11308725-T-C,G ***
13472071-A-C,T 11316395-A-C,T ***
13476883-G-C 11321207-G-C ***
13586854-T-A 11431178-T-A ***
14300913-A-ATTATTAATTAT 12180207-A-ATTATTAATTAT ***
15084466-CTTT-C,CT 12972556-CTTT-C,CT 19×T***
15184128-T-C 13072214-T-C ***
15963080-C-T 13851200-C-T ***
15971415-A-G 13859535-A-G ***
19393098-CT-C,CTT 17281218-CT-C,CTT 30×T***
20888616-GC-G 18726730-GC-G P4_Dst ***
21287967-CT-C,CTTT 19126081-CT-C,CTTT 16×T***
22510064-G-T 20348178-G-T DYZ19 ***
23004129-A-G 20842243-A-G ***
23272354-C-A 21110468-C-A ***
28717701-A-G 26571554-A-G ***

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.