Tree Position

R-P312/S116 > Z290 > L21/S145 > DF13 > Z39589 > DF41/S524 > Z43690 > Y8426/FGC5572 > FGC5586 > A40 > FGC5584 > BY3105 > FGC5581 > FGC5577

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 STRFTDNA
3949540-C-A 4081499-C-A FGC5569 +
7157962-C-T 7289921-C-T FGC5578 YY++
21876954-T-C 19715068-T-C FGC5610 YY++
18732366-G-A 16620486-G-A FGC5601 YY++
13816996-T-C 11696290-T-C FGC5591 ++
28691420-C-T 26545273-C-T FGC5614 +
6839692-C-A 6971651-C-A **
17589240-A-C 15477360-A-C CTS7649 **
5633469-G-T 5765428-G-T **
13514085-A-G 11358409-A-G **
7340243-C-A 7472202-C-A L535 M5401 **
23311168-T-G 21149282-T-G **
27815070-CT-C 25668923-CT-C P1_Y2 10×T**
22284576-T-A 20122690-T-A DYZ19 **
58857351-A-G 56733520-T-C **
4682946-A-G 4814905-A-G **
13579573-A-G 11423897-A-G **
13801050-AATTGG-A 11680344-AATTGG-A **
58917661-N-T 56673210-N-A ***
58845675-G-A 56745196-C-T ***
58846665-C-T 56744206-G-A ***
58857446-T-C 56733425-A-G ***
58868288-A-C 56722583-T-G ***
58873029-G-T 56717842-C-A ***
58894964-A-C 56695907-T-G ***
58909152-A-C 56681719-T-G ***
58912767-G-A 56678104-C-T ***
58916553-A-G 56674318-T-C ***
58917660-N-A 56673211-N-T ***
22661493-ATGTGTGTG-A 20499607-ATGTGTGTG-A 26×TG***
5937661-C-CCA 6069620-C-CCA 15×CA***
58845663-T-C 56745208-A-G ***
22297151-TTC-GGA 20135265-TTC-GGA DYZ19 ***
13579554-ACAG-A 11423878-ACAG-A ***
7195321-AA-G 7327280-AA-G ***
3970985-C-CT 4102944-C-CT 17×T***
10018287-AT-GC 10180678-AT-GC ***
13476064-ATGT-CTGG 11320388-ATGT-CTGG ***
13470244-GT-G 11314568-GT-G ***
22293223-ATTTA-GTGTC 20131337-ATTTA-GTGTC DYZ19 ***
13455784-AAG-CAT 11300108-AAG-CAT ***
4539205-C-CA 4671164-C-CA 11×A***
4564938-T-TA 4696897-T-TA 10×A***
22265799-G-T 20103913-G-T DYZ19 ***
22366722-G-T 20204836-G-T DYZ19 ***
58840473-G-T 56750398-C-A ***
19487768-G-A 17375888-G-A ***
22366765-T-C 20204879-T-C DYZ19 ***
22420903-T-A 20259017-T-A DYZ19 ***
22481323-A-T 20319437-A-T DYZ19 ***
22481326-G-C 20319440-G-C DYZ19 ***
22481367-T-C 20319481-T-C DYZ19 ***
22481378-G-A 20319492-G-A DYZ19 ***
22491371-G-T 20329485-G-T DYZ19 ***
22502533-A-C 20340647-A-C DYZ19 ***
22503560-A-G 20341674-A-G DYZ19 ***
22366032-G-C 20204146-G-C DYZ19 ***
22535276-C-A 20373390-C-A ***
21234968-G-T 19073082-G-T ***
22535336-G-C 20373450-G-C ***
21823570-G-A 19661684-G-A ***
22360480-A-C 20198594-A-C DYZ19 ***
22694157-C-T 20532271-C-T ***
27998516-G-A 25852369-G-A P1_Y2 ***
28078078-G-A 25931931-G-A P1_Y2 ***
28585528-A-G 26439381-A-G ***
22342918-G-T 20181032-G-T DYZ19 ***
58826885-C-A 56763986-G-T ***
58827979-A-T 56762892-T-A ***
22330107-G-T 20168221-G-T DYZ19 ***
58831502-G-C 56759369-C-G ***
58831504-T-C 56759367-A-G ***
58831529-T-A 56759342-A-T ***
58836048-C-T 56754823-G-A ***
13801036-A-G 11680330-A-G ***
3548670-ATTT-A 3680629-ATTT-A 17×T***
22420853-TAGT-GTGA 20258967-TAGT-GTGA DYZ19 ***
15260684-C-CTTTTTTTT 13148768-C-CTTTTTTTT 25×T***
15904149-C-CAAAAAAA 13792269-C-CAAAAAAA 20×A***
16077542-GC-AA 13965662-GC-AA ***
16818677-A-AATAT 14706797-A-AATAT 12×AT***
18340489-TACAC-CACAT 16228609-TACAC-CACAT P6_Prx 12×AC***
19449428-G-GAAA 17337548-G-GAAA 23×A***
20104258-AGA-GGG 17992378-AGA-GGG P5_Dst ***
21062762-ATGTGTG-A 18900876-ATGTGTG-A 17×TG***
22226532-CAAA-AAAT 20064646-CAAA-AAAT DYZ19 ***
22292211-TACTT-CACTA 20130325-TACTT-CACTA DYZ19 ***
22297317-CACC-TACA 20135431-CACC-TACA DYZ19 ***
22361092-ACT-CAA 20199206-ACT-CAA DYZ19 ***
24388090-A-ATC 22241943-A-ATC ***
13931735-CTTTC-TTTTT 11811029-CTTTC-TTTTT ***
26152167-CCTT-C 24006020-CCTT-C P1_Y1 ***
26228689-C-CTTTTTTTTTTT 24082542-C-CTTTTTTTTTTT P1_Y1 27×T***
27454061-GT-G 25307914-GT-G P1_Y2 ***
28078079-GA-AT 25931932-GA-AT P1_Y2 ***
58843442-TGTGGT-ATTGAC 56747424-ACCACA-GTCAAT ***
58857449-TTCG-CTCC 56733419-CGAA-GGAG ***
58909164-AGCGGA-C 56681702-TCCGCT-G ***
58909203-AG-TC 56681667-CT-GA ***
58913065-TTCC-ATCA 56677803-GGAA-TGAT ***
59007959-C-CAAAAAAAAAAA 56861812-C-CAAAAAAAAAAA 26×A***
13865743-G-A,T 11745037-G-A,T ***
14134171-A-AAGGAGAG 12013465-A-AAGGAGAG ***
13818999-CATCCG-A 11698293-CATCCG-A ***
4136641-T-TACACAC 4268600-T-TACACAC 20×AC***
13440910-CA-AG 11285234-CA-AG ***
4471003-C-CT 4602962-C-CT 29×T***
5792833-TA-GT 5924792-TA-GT ***
5815515-AA-CC 5947474-AA-CC ***
18579901-A-G 16468021-A-G ***
7269610-C-CTTTT 7401569-C-CTTTT 22×T***
8221228-CTTTTT-C 8353187-CTTTTT-C 16×T***
13138822-TC-AA 10628308-TC-AA ***
13140964-CATTT-C 10630450-CATTT-C ***
13223639-AGAGG-A 11067963-AGAGG-A ***
13244808-TG-CA 11089132-TG-CA ***
13298423-ACCAG-CCCAA 11142747-ACCAG-CCCAA ***
13308567-CGGG-TGGA 11152891-CGGG-TGGA ***
13448613-TTGC-CTGT 11292937-TTGC-CTGT ***
13547482-ATGTG-TTGTC 11391806-ATGTG-TTGTC ***
13473950-GAT-G 11318274-GAT-G ***
13474798-AT-GG 11319122-AT-GG ***
13474827-GA-AG 11319151-GA-AG ***
13474834-GCT-CCC 11319158-GCT-CCC ***
13474845-CTTC-GTTG 11319169-CTTC-GTTG ***
13474885-GT-TG 11319209-GT-TG ***
13485041-GC-TT 11329365-GC-TT ***
13486101-ATTGGC-GTAGGA 11330425-ATTGGC-GTAGGA ***
13486132-TG-CC 11330456-TG-CC ***
13488972-CT-TA 11333296-CT-TA ***
18827974-G-A 16716094-G-A ***
13485099-A-G 11329423-A-G ***
17835121-G-A 15723241-G-A ***
13379546-C-T 11223870-C-T ***
22496075-T-G 20334189-T-G DYZ19 ***
58841096-T-C 56749775-A-G ***
58863460-T-G 56727411-A-C ***
13562893-A-G 11407217-A-G ***
58840526-T-C 56750345-A-G ***
58843446-G-A 56747425-C-T ***
58843447-T-C 56747424-A-G ***
58868293-G-A 56722578-C-T ***
13469234-T-G 11313558-T-G ***
13379551-T-A 11223875-T-A ***
22256937-C-A 20095051-C-A DYZ19 ***
22341640-A-T 20179754-A-T DYZ19 ***
22421711-A-G 20259825-A-G DYZ19 ***
22481701-G-T 20319815-G-T DYZ19 ***
22481317-C-A 20319431-C-A DYZ19 ***
58840628-G-T 56750243-C-A ***
13635945-TG-T 11480269-TG-T ***
25709386-G-GTTTTTTT 23563239-G-GTTTTTTT P1_b3 31×T***
28786732-TGGAAC-T 26640585-TGGAAC-T ***
22480909-T-C 20319023-T-C DYZ19 ***
13486117-G-C 11330441-G-C ***
13474833-G-T 11319157-G-T ***
13474845-C-G 11319169-C-G ***
22481631-A-G 20319745-A-G DYZ19 ***
10018309-A-T 10180700-A-T ***
13486126-T-C 11330450-T-C BY30135 ***
13856272-G-A 11735566-G-A ***
13805326-G-A,T 11684620-G-A,T ***
13486129-G-A 11330453-G-A ***
13453038-A-C 11297362-A-C ***
9966399-G-A 10128790-G-A ***
13446662-G-C 11290986-G-C ***
13453599-A-G 11297923-A-G ***
13455539-T-C 11299863-T-C ***
13801166-A-T 11680460-A-T ***
13801170-A-T 11680464-A-T ***
13815695-A-C 11694989-A-C ***
13838222-GAATCA-G 11717516-GAATCA-G ***
13860267-A-C 11739561-A-C ***
22480877-T-C 20318991-T-C DYZ19 ***
13862244-T-A 11741538-T-A ***
13862802-T-A 11742096-T-A ***
13865837-A-T 11745131-A-T ***
16107442-G-GTTT 13995562-G-GTTT P8_Prx 30×T***
16157806-G-T 14045926-G-T P8_Dst ***
17936932-CAA-C 15825052-CAA-C 14×A***
22231864-C-G 20069978-C-G BY22894 DYZ19 ***
22314753-T-TC 20152867-T-TC DYZ19 ***
22428859-C-G 20266973-C-G DYZ19 ***
22512165-C-A 20350279-C-A DYZ19 ***
25931393-C-T 23785246-C-T P1_Y1 ***
58980927-C-CATTCCATTGT 56834780-C-CATTCCATTGT ***
13474848-C-G 11319172-C-G ***
18141292-A-T 16029412-A-T ***
17835102-G-T 15723222-G-T ***
13466143-G-A 11310467-G-A ***
4081152-C-T 4213111-C-T ***
8007900-C-T 8139859-C-T ***
8972364-A-T 9134755-A-T ***
9432609-T-C 9595000-T-C ***
9944502-A-G 10106893-A-G ***
13122920-A-T 10612406-A-T ***
13244690-A-G 11089014-A-G ***
13320070-A-T 11164394-A-T ***
13360652-T-C 11204976-T-C ***
13373354-C-T 11217678-C-T ***
13393217-G-A 11237541-G-A ***
13465436-C-T 11309760-C-T ***
13466151-T-C 11310475-T-C ***
2792028-A-T 2923987-A-T ***
13473613-G-T 11317937-G-T ***
13474824-A-G 11319148-A-G ***
13474857-G-C 11319181-G-C ***
13476846-C-T 11321170-C-T ***
13483774-T-C 11328098-T-C ***
13862246-G-A 11741540-G-A ***
13489867-C-A 11334191-C-A ***
13513955-A-G 11358279-A-G ***
13583879-G-A 11428203-G-A ***
13583889-G-A 11428213-G-A ***
13876561-A-G 11755855-A-G ***
14266335-G-A 12145629-G-A ***
3206635-A-G 3338594-A-G ***
3490853-T-A 3622812-T-A ***
22341249-T-C 20179363-T-C DYZ19 ***
13473565-G-C 11317889-G-C ***
58826932-C-T 56763939-G-A ***
13460192-C-A 11304516-C-A ***
5393293-A-C 5525252-A-C ***
13481508-T-A 11325832-T-A ***
58917665-N-A 56673206-N-T ***
58917663-N-G 56673208-N-C ***
7645202-A-T 7777161-A-T 17×T***
13640738-T-A 11485062-T-A ***
10018302-C-G 10180693-C-G ***
13473535-G-C 11317859-G-C ***
10034732-A-C 10197123-A-C ***
13468766-T-G 11313090-T-G BY40454 ***
13486177-C-G 11330501-C-G ***
13476072-C-G 11320396-C-G ***
13601077-T-C 11445401-T-C ***
58917659-N-G 56673212-N-C ***
22268376-T-G 20106490-T-G DYZ19 ***
13436306-A-T 11280630-A-T ***
13424893-T-C 11269217-T-C ***
13438923-C-G 11283247-C-G ***
13486174-C-G 11330498-C-G ***
13547464-G-T 11391788-G-T ***
13486155-A-G 11330479-A-G ***
13476078-A-C 11320402-A-C ***
13474893-C-G 11319217-C-G ***
3790892-A-G 3922851-A-G ***
16157704-T-A,G 14045824-T-A,G P8_Dst ***

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.

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