Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > DF21/S192 > Z30233 > FGC3903/S5201 > S5199 > Z246 > DF25 > DF5 > Y2:34105-T-C > FGC5780 > L658 > FGC5757 > FGC5787 > FGC5766 > FGC5767 > FGC5781

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 STRFGC
BAPCG
4622798-G-A 4754757-G-A FGC5755 *
19027121-T-C 16915241-T-C **
19027163-T-C 16915283-T-C **
5164866-T-A 5296825-T-A **
18660072-T-A 16548192-T-A **
22655977-C-T 20494091-C-T **
2860458-G-GTTTTT 2992417-G-GTTTTT 18×T**
20045279-AAAGAAAGAAAGAAAG-A 17933399-AAAGAAAGAAAGAAAG-A P5_Prx **
27610009-AACACACACACACACACACACAC-A 25463862-AACACACACACACACACACACAC-A P1_Y2 21×AC**
58882412-ACATTCGATTTCTTGT-A 56708434-GAATCGAATGACAAGA-G **
13467139-A-T 11311463-A-T ***
58848262-C-T 56742609-G-A ***
22341597-T-G 20179711-T-G DYZ19 ***
13483238-TTG-GCC 11327562-TTG-GCC ***
27637019-T-C 25490872-T-C P1_Y2 ***
58823351-C-A 56767520-G-T ***
28804479-AAATGAGT-GAGTGGGG 26658332-AAATGAGT-GAGTGGGG ***
13475703-G-A 11320027-G-A ***
22236668-A-G 20074782-A-G DYZ19 ***
58844807-A-T 56746064-T-A ***
10018107-GGT-TGC 10180498-GGT-TGC ***
22309358-ATT-GTG 20147472-ATT-GTG DYZ19 ***
22309290-CT-C 20147404-CT-C DYZ19 ***
22309295-C-CT 20147409-C-CT DYZ19 ***
22309318-GC-CG 20147432-GC-CG DYZ19 ***
25709386-G-GTTTTTTT 23563239-G-GTTTTTTT P1_b3 31×T***
28802821-T-G 26656674-T-G ***
19027143-G-T 16915263-G-T ***
22292069-T-A 20130183-T-A DYZ19 ***
22292071-C-T 20130185-C-T DYZ19 ***
22292088-T-C 20130202-T-C BY6061 DYZ19 ***
22365805-G-A 20203919-G-A DYZ19 ***
58840562-G-A 56750309-C-T ***
58844840-C-A 56746031-G-T ***
13476296-AG-CA 11320620-AG-CA ***
22292136-T-G 20130250-T-G DYZ19 ***
22309485-T-G 20147599-T-G DYZ19 ***
22309491-C-T 20147605-C-T DYZ19 ***
22309507-T-G 20147621-T-G DYZ19 ***
22435814-C-G 20273928-C-G DYZ19 ***
13140073-CGAGTG-C 10629559-CGAGTG-C ***
13469931-TGAC-CACA 11314255-TGAC-CACA ***
20252796-C-CAAAAAAA 18090910-C-CAAAAAAA P5_Dst 24×A***
22227912-TAAC-GAAA 20066026-TAAC-GAAA DYZ19 ***
22309498-CAGGA-AAGGT 20147612-CAGGA-AAGGT DYZ19 ***
22309523-AGAA-CTAG 20147637-AGAA-CTAG DYZ19 ***
22309544-GTGGT-CTGGG 20147658-GTGGT-CTGGG DYZ19 ***
22480588-GAATTCT-G 20318702-GAATTCT-G DYZ19 ***
28586710-TT-A 26440563-TT-A ***
27808469-C-T 25662322-C-T P1_Y2 ***
9939619-T-C 10102010-T-C ***
22292220-T-G 20130334-T-G DYZ19 ***
22503819-C-A 20341933-C-A DYZ19 ***
58833092-T-G 56757779-A-C ***
22354954-C-G 20193068-C-G DYZ19 ***
13460192-C-A 11304516-C-A ***
13460240-G-T 11304564-G-T ***
3649831-C-T 3781790-C-T ***
27636936-A-G 25490789-A-G P1_Y2 ***
13436568-A-G 11280892-A-G ***
13618446-G-A 11462770-G-A ***
5776576-G-A 5908535-G-A 13×A***
5393293-A-C 5525252-A-C ***
4682322-C-T 4814281-C-T ***
6792655-G-A 6924614-G-A ***
16881746-A-G 14769866-A-G ***
58914410-T-C 56676461-A-G ***
7622037-A-C 7753996-A-C ***
5228363-A-T 5360322-A-T ***
58864089-T-A 56726782-A-T ***
5228376-G-T 5360335-G-T ***
13294271-A-G 11138595-A-G ***
5228372-G-A 5360331-G-A FTA52317 ***
58913266-A-T 56677605-T-A ***
58869729-C-T 56721142-G-A ***
13460356-T-G 11304680-T-G ***
22333462-T-A 20171576-T-A DYZ19 ***
3100144-G-T 3232103-G-T ***
5810934-T-C 5942893-T-C ***
9921749-C-A 10084140-C-A ***
10022228-A-T 10184619-A-T ***
10029485-G-C 10191876-G-C ***
10029492-T-C 10191883-T-C ***
13462138-T-C 11306462-T-C ***
13462178-C-A 11306502-C-A ***
13476341-T-C 11320665-T-C ***
13483886-G-T 11328210-G-T ***
13726662-A-G 11570986-A-G ***
13876417-G-T 11755711-G-T ***
13876452-G-A 11755746-G-A ***
15639632-T-C 13527752-T-C ***
16976972-G-A 14865092-G-A ***
20045249-A-G 17933369-A-G P5_Prx ***
22090583-T-C 19928697-T-C ***
22236757-T-A 20074871-T-A DYZ19 ***
22245077-G-A 20083191-G-A DYZ19 ***
22251502-T-C 20089616-T-C DYZ19 ***
22251508-A-G 20089622-A-G DYZ19 ***
22252956-T-A 20091070-T-A DYZ19 ***
22252957-A-G 20091071-A-G DYZ19 ***
22283369-T-A 20121483-T-A DYZ19 ***
22286211-A-G 20124325-A-G DYZ19 ***
22289475-A-G 20127589-A-G DYZ19 ***
22292032-T-A 20130146-T-A DYZ19 ***
22292292-C-G 20130406-C-G DYZ19 ***
22292295-T-C 20130409-T-C DYZ19 ***
22292344-G-T 20130458-G-T DYZ19 ***
22342748-A-C 20180862-A-C DYZ19 ***
22355080-T-G 20193194-T-G DYZ19 ***
22355113-C-G 20193227-C-G DYZ19 ***
22355163-T-G 20193277-T-G DYZ19 ***
22361473-T-G 20199587-T-G DYZ19 ***
22361490-A-C 20199604-A-C DYZ19 ***
22364706-G-T 20202820-G-T DYZ19 ***
22365796-G-A 20203910-G-A DYZ19 ***
22421946-G-T 20260060-G-T DYZ19 ***
22488492-T-G 20326606-T-G DYZ19 ***
22488496-G-T 20326610-G-T DYZ19 ***
22488497-T-C 20326611-T-C DYZ19 ***
22491770-C-T 20329884-C-T DYZ19 ***
22500218-T-A 20338332-T-A DYZ19 ***
25424850-T-G 23278703-T-G P2_r2 ***
26923569-A-G 24777422-A-G P1_r3 ***
27417717-C-A 25271570-C-A P1_g3 ***
27520465-G-T 25374318-G-T P1_Y2 ***
28183222-A-C 26037075-A-C P1_b4 ***
28753091-T-G 26606944-T-G ***
28753109-T-C 26606962-T-C ***
58829717-T-A 56761154-A-T ***
58836372-T-A 56754499-A-T ***
58840445-C-G 56750426-G-C ***
58840643-C-A 56750228-G-T ***
58891596-G-C 56699275-C-G ***
58895630-G-T 56695241-C-A ***
58898478-C-G 56692393-G-C ***
58909166-C-G 56681705-G-C ***
58911104-C-T 56679767-G-A ***
21823564-CG-C 19661678-CG-C 12×G***
13139606-T-TATTCC 10629092-T-TATTCC 7×ATTCC***
3349251-AT-A 3481210-AT-A ***
19130738-C-CTTT 17018858-C-CTTT 33×T***
13483583-TA-GC 11327907-TA-GC ***
22251518-AA-CT 20089632-AA-CT DYZ19 ***
23569164-C-CG 21407278-C-CG ***
2845821-C-CAAAAA 2977780-C-CAAAAA 28×A***
5228372-GTGTG-ATGTT 5360331-GTGTG-ATGTT ***
5434001-ATAAT-A 5565960-ATAAT-A ***
7312611-GAGAAGGGAGGGAGGGAGGGGAGAAGGGAGGGAGGGAGGGA-G 7444570-GAGAAGGGAGGGAGGGAGGGGAGAAGGGAGGGAGGGAGGGA-G ***
9403521-G-GTTTTT 9565912-G-GTTTTT 21×T***
9700780-C-CAAAAAAAA 9863171-C-CAAAAAAAA IR3_Prx 23×A***
13445362-CAAAAA-C 11289686-CAAAAA-C 15×A***
13459116-GATTCCATTCCATTCCATTCC-G 11303440-GATTCCATTCCATTCCATTCC-G 10×ATTCC***
13462155-AGCC-GGCT 11306479-AGCC-GGCT ***
13472681-CGC-AGT 11317005-CGC-AGT ***
13480243-GTAC-TGAT 11324567-GTAC-TGAT ***
13481771-GATCCT-TATCAG 11326095-GATCCT-TATCAG ***
13483211-GGAGATACT-AGAAATATG 11327535-GGAGATACT-AGAAATATG ***
13483226-TAC-AG 11327550-TAC-AG ***
13842478-TAATCA-GAATGG 11721772-TAATCA-GAATGG ***
13867497-G-GAATGA 11746791-G-GAATGA ***
15752638-CCTTCTTCTTCTTCTTCTT-C 13640758-CCTTCTTCTTCTTCTTCTT-C 25×CTT***
16057666-CTTTT-C 13945786-CTTTT-C 15×T***
17245529-G-GAAAAA 15133649-G-GAAAAA 22×A***
17831207-C-CTTTTTT 15719327-C-CTTTTTT 17×T***
19611198-TC-T 17499318-TC-T P5_Prx ***
19937284-G-GCCCCCCCCCC 17825404-G-GCCCCCCCCCC P5_Prx 13×C***
20045274-AAAAGAAAGAAAGAAAGAAAG-A 17933394-AAAAGAAAGAAAGAAAGAAAG-A P5_Prx 14×AAAG***
22245066-AT-A 20083180-AT-A DYZ19 ***
22245071-G-ACT 20083185-G-ACT DYZ19 ***
22292227-ATCCAGT-GTCAAGA 20130341-ATCCAGT-GTCAAGA DYZ19 ***
22302524-C-CCTT 20140638-C-CCTT DYZ19 ***
22360090-ACC-CAA 20198204-ACC-CAA DYZ19 ***
22421962-TT-GG 20260076-TT-GG DYZ19 ***
22480925-ACTGG-TGTGA 20319039-ACTGG-TGTGA DYZ19 ***
25246441-C-CCTTTTT 23100294-C-CCTTTTT P2_r1 ***
25966597-CAT-C 23820450-CAT-C P1_Y1 ***
25966606-C-CT 23820459-C-CT P1_Y1 ***
27651806-GAAAG-AAAAA 25505659-GAAAG-AAAAA P1_Y2 ***
58831550-TT-GA 56759320-AA-TC ***
58840696-CTTTCGC-TTATCCA 56750169-GCGAAAG-TGGATAA ***
58847479-GCATTCCATTC-G 56743371-CGAATGGAATG-C 4×CATTC***
58848497-ATG-TTC 56742372-CAT-GAA ***
58912945-GGC-TGT 56677924-GCC-ACA ***
58913141-ACCAGTCGAG-TCGATTCCAT 56677721-CTCGACTGGT-ATGGAATCGA ***
58913247-CG-C 56677622-TC-T ***
58977570-CATTTCCATTG-C 56831423-CATTTCCATTG-C ***
59007963-A-ACAAACAAACAAAC 56861816-A-ACAAACAAACAAAC ***

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.