Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > L513/S215/DF1 > S5668 > Z16340 > FGC9807 > FGC9795 > FGC9804 > FGC9809 > Z16334 > FGC9800 > Z16337

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
756243
BigY2
756243
14102271-A-G 11981565-A-G FT272375 YYA*
13449138-C-T 11293462-C-T A*
6221342-A-T 6353301-A-T IR3_Dst A*A*
25909152-G-A 23763005-G-A P1_Y1 A*A*
26234474-A-G 24088327-A-G P1_Y1 A*A*
26305700-C-CA 24159553-C-CA P1_Y1 23×AA*
20229557-T-TAC 18067671-T-TAC P5_Dst 18×ACA*
18504246-T-C 16392366-T-C P6_Dst A*
18506416-C-T 16394536-C-T P6_Dst A*
20629296-G-C 18467410-G-C P4_Prx A*
20876911-A-G 18715025-A-G P4_Dst A*
21014873-C-G 18852987-C-G P4_Dst YA*
25612318-C-T 23466171-C-T P1_gr1 A*
23225335-T-C 21063449-T-C CTS11685 Y+
7228185-A-G 7360144-A-G BY64038 YY++
13922589-AT-A 11801883-AT-A +**
21310674-A-G 19148788-A-G BY131985 YY++
21434886-G-A 19273000-G-A BY132897 YY++
22095217-TCA-T 19933331-TCA-T ++
22179600-C-A 20017714-C-A BY138203 YY++
22464056-A-C 20302170-A-C BY221243 DYZ19 ++
22478046-A-T 20316160-A-T BY223954 DYZ19 ++
4998822-G-T 5130781-G-T FT106985 +
20612156-T-C 18450270-T-C FT452713 P4_Prx +
17180153-A-AAC 15068273-A-AAC 23×AC*
5502827-C-CTG 5634786-C-CTG 17×TG*
16692757-GAAAAAAA-G 14580877-GAAAAAAA-G 27×A*
5336084-C-T 5468043-C-T *
3845141-G-GCA 3977100-G-GCA *
5483404-G-A 5615363-G-A *
56868043-T-G *
56868087-A-C *
22247368-A-G 20085482-A-G DYZ19 **
9952514-A-T 10114905-A-T **
18867364-G-T 16755484-G-T **
16290775-GTATATATA-G 14178895-GTATATATA-G 19×TA**
13859392-A-G 11738686-A-G **
17203324-CTTCT-C 15091444-CTTCT-C **
18951779-GTAA-G 16839899-GTAA-G 5×TAA**
58972141-T-A 56825994-T-A **
9952545-G-T 10114936-G-T **
27971764-C-A 25825617-C-A P1_Y2 **
58985571-T-C 56839424-T-C **
58985639-A-G 56839492-A-G **
58972156-T-C 56826009-T-C **
58982820-A-G 56836673-A-G **
58985636-C-G 56839489-C-G **
58976521-A-G 56830374-A-G **
15411308-CA-C 13299428-CA-C 30×A**
22513204-G-GT 20351318-G-GT 9×T**
10935624-T-C **
11027300-C-G **
11027323-T-G **
11027324-T-G **
14398206-C-A 12277502-C-A **
11025461-T-C **
56826966-A-CCATTT **
13489026-C-G 11333350-C-G **
13223472-G-A 11067796-G-A **
13223501-G-GGAA 11067825-G-GGAA **
10967554-A-G **
10988509-CCTCTCCATTA-C **
10826848-T-A **
10826856-C-T **
7938814-C-A 8070773-C-A **
10792748-C-T **
10792752-C-T **
15374441-G-T 13262561-G-T 20×T**
16164442-C-A 14052562-C-A BY46540 P8_Dst **
16164474-C-CAA 14052594-C-CAA P8_Dst 19×A**
10764598-T-A **
10795112-T-C **
10986918-A-T **
13461047-G-C 11305371-G-C **
15761652-C-A 13649772-C-A **
18407023-C-A 16295143-C-A P6_Gap **
10965556-T-G **
15777032-C-A 13665152-C-A **
19622093-A-T 17510213-A-T P5_Prx **
21409414-C-A 19247528-C-A **
10786127-A-C **
10786135-G-A **
10821912-C-A **
20252847-C-A 18090961-C-A P5_Dst **
10792729-A-T **
13811083-G-C 11690377-G-C **
14931919-AC-A 12819984-AC-A **
10781137-A-C **
10770790-A-T **
10865495-T-A **
10865497-T-C **
10865499-T-C **
10865519-C-T **
10865526-C-T **
10865529-T-C **
10865531-C-G **
10865539-A-C **
10865549-C-T **
10865559-T-C **
10686596-C-A **
10686632-A-G **
10958880-C-G **
10686593-T-C **
21556957-G-T 19395071-G-T **
11000425-T-C **
27971766-CAAAG-C 25825619-CAAAG-C P1_Y2 4×AAAGA**
7108615-GTATA-G 7240574-GTATA-G 9×TA**
10958881-C-A **
10958883-G-T FT438214 **
10780602-G-A **
10786190-C-A **
17285223-A-G 15173343-A-G **
10935574-C-A **
10967532-C-G **
10826874-CA-C **
10826886-T-TTAAAC **
10826891-T-A **
10826914-C-A **
10858435-C-T FT434327 **
6310893-G-T 6442852-G-T IR3_Dst **
10969962-T-TCTACTCCCA **
10969964-C-CT **
26565445-C-A 24419298-C-A P1_g2 **
10801632-C-A **
23720497-T-A 21558611-T-A **
10783826-C-A **
13483277-T-A 11327601-T-A **
10759307-C-A **
10999869-CAT-C **
13811118-G-C 11690412-G-C **
9537706-GT-G 9700097-GT-G IR3_Prx **
13208120-C-A 11052444-C-A **
10935599-T-A **
18869035-T-C 16757155-T-C **
9952415-C-A 10114806-C-A **
10821891-C-G **
11037942-C-A **
16676672-C-A 14564792-C-A **
10664802-T-C **
19324119-C-CAA 17212239-C-CAA 10×A**
13859406-A-T 11738700-A-T **
19831762-A-T 17719882-A-T P5_Prx **
15967585-C-A 13855705-C-A **
15333834-A-C 13221952-A-C **
16881666-C-A 14769786-C-A **
13725179-C-A 11569503-C-A **
10926606-G-A **
10926608-G-T **
5242514-A-G 5374473-A-G **
11643722-TTGATTG-T **
10935581-C-A **
6541019-C-A 6672978-C-A **
10824186-C-T **
15734401-C-A 13622521-C-A **
14607699-G-T 12495901-G-T **
10759303-T-C **
24583335-GGTGT-G 22437188-GGTGT-G P3_t2 9×GT**
11030184-A-T **
21584068-C-A 19422182-C-A **
6767774-CA-C 6899733-CA-C 8×A**
10657404-C-T **
10935628-A-T **
13859034-C-A 11738328-C-A **
27232188-C-A 25086041-C-A P1_g3 **
56836443-C-A **
19340250-C-T 17228370-C-T **
10999881-T-TTTGAG **
28095981-G-T 25949834-G-T P1_Y2 **
14661574-C-A 12549639-C-A **
18390130-C-A 16278250-C-A P6_Gap **
15435175-C-A 13323295-C-A **
10926597-C-G **
10744403-C-T **
15527848-C-A 13415968-C-A **
10949979-C-A **
9928056-C-A 10090447-C-A **
15642891-C-A 13531011-C-A **
13316039-C-A 11160363-C-A **
10654401-C-A **
23047639-C-A 20885753-C-A **
10796131-C-G **
10926648-C-A **
3178803-C-A 3310762-C-A **
10821901-C-T **
3164733-T-G 3296692-T-G **
10935638-A-G **
14376164-A-C 12255460-A-C **
14776867-G-C 12664936-G-C **
20230152-T-TAAA 18068266-T-TAAA P5_Dst 16×A**
2693178-C-A 2825137-C-A **
11004500-G-T **
13811109-G-T 11690403-G-T **
7083005-C-A 7214964-C-A **
13800736-T-A 11680030-T-A **
2683379-T-A 2815338-T-A **
3012638-C-A 3144597-C-A **
3219475-G-T 3351434-G-T **
3821033-G-A 3952992-G-A **
4002947-C-A 4134906-C-A **
4229230-T-A 4361189-T-A **
4229309-T-G 4361268-T-G **
4357692-G-T 4489651-G-T **
6358263-C-A 6490222-C-A **
6400988-A-C 6532947-A-C **
6634283-G-T 6766242-G-T **
6755752-T-A 6887711-T-A **
6757749-A-G 6889708-A-G **
6978469-G-A 7110428-G-A **
7111906-G-T 7243865-G-T **
7418634-T-G 7550593-T-G **
7642992-C-A 7774951-C-A **
7643012-A-C 7774971-A-C **
7708803-C-A 7840762-C-A **
7717281-TA-T 7849240-TA-T **
7990512-C-A 8122471-C-A **
7996321-C-A 8128280-C-A **
8698052-C-A 8830011-C-A **
8975013-G-T 9137404-G-T **
9063171-G-T 9225562-G-T **
10094024-C-A 10256415-C-A **
10657244-C-T **
10660130-C-A **
10683511-A-G **
10759309-A-C **
10759324-A-G **
10787606-C-A **
10815065-A-T **
10815083-C-A **
10821932-C-T **
10850955-C-A **
10850981-G-T **
10858456-TC-T **
10892558-C-CCTTAA **
10894413-T-A **
10902107-C-G **
10902139-A-T **
10926583-C-A **
10927898-C-A **
10934898-C-A **
10935597-C-A **
10938810-C-A **
10946999-C-A **
10956394-C-A **
10963748-C-A **
10967539-A-C **
10998902-C-A **
11000413-C-A **
13473756-C-A 11318080-C-A **
13486836-G-A 11331160-G-A **
13586094-T-G 11430418-T-G **
13811082-T-A 11690376-T-A **
13811116-A-T 11690410-A-T **
13833390-G-T 11712684-G-T **
13858040-G-A 11737334-G-A **
13859417-A-AGGGAG 11738711-A-AGGGAG **
13859419-G-GTAGTT 11738713-G-GTAGTT **
13859435-G-C 11738729-G-C **
13888634-A-C 11767928-A-C **
14098691-C-A 11977985-C-A **
14511433-C-A 12399638-C-A **
14557791-G-C 12445992-G-C **
14557954-GTCTATAAGCCACCA-G 12446155-GTCTATAAGCCACCA-G **
14630429-T-G 12518498-T-G **
14776872-G-C 12664941-G-C **
14871053-C-G 12759123-C-G **
14931902-C-G 12819967-C-G **
14931926-T-C 12819991-T-C **
14931931-G-A 12819996-G-A FT180167 **
14931940-T-G 12820005-T-G **
14931942-T-C 12820007-T-C **
14986618-C-A 12874686-C-A **
15073201-G-T 12961291-G-T **
15406937-C-A 13295057-C-A **
15447069-A-T 13335189-A-T **
15636286-C-T 13524406-C-T **
15742978-G-A 13631098-G-A **
15976523-C-A 13864643-C-A **
16089675-G-T 13977795-G-T **
16250620-CTG-C 14138740-CTG-C **
16427655-C-A 14315775-C-A **
16445677-T-G 14333797-T-G **
16476360-C-A 14364480-C-A **
17071321-A-C 14959441-A-C **
17071381-A-C 14959501-A-C **
17466446-C-A 15354566-C-A **
17903513-G-C 15791633-G-C **
18059926-C-A 15948046-C-A **
18060290-GTA-G 15948410-GTA-G **
18540169-G-T 16428289-G-T **
18566149-A-T 16454269-A-T **
18950511-C-A 16838631-C-A **
19286273-A-G 17174393-A-G **
19301942-G-T 17190062-G-T **
19754880-C-A 17643000-C-A P5_Prx **
19754901-C-A 17643021-C-A P5_Prx **
19759370-A-T 17647490-A-T P5_Prx **
19924661-A-ATC 17812781-A-ATC P5_Prx 20×T**
20458520-C-T 18296634-C-T P5_Dst **
21154199-T-G 18992313-T-G **
21388754-C-A 19226868-C-A **
21682255-C-G 19520369-C-G **
22079984-C-A 19918098-C-A **
22164539-C-T 20002653-C-T **
22238347-G-T 20076461-G-T DYZ19 **
23455054-T-TTA 21293168-T-TTA **
21753986-G-A **
24278013-G-T 22131866-G-T P3_b1 **
24278016-G-T 22131869-G-T P3_b1 **
26252562-T-G 24106415-T-G P1_Y1 **
26252612-A-C 24106465-A-C P1_Y1 **
27232202-C-A 25086055-C-A P1_g3 **
27897314-AT-A 25751167-AT-A P1_Y2 8×T**
27971808-G-T 25825661-G-T P1_Y2 **
56828943-C-CCATCA **
56841210-C-T **
26412003-C-A 24265856-C-A P1_Y1 **
9357134-T-C 9519525-T-C **
17454359-C-G 15342479-C-G **
19015210-A-G 16903330-A-G **
19340246-G-A 17228366-G-A **
19340262-G-T 17228382-G-T **
19340275-A-G 17228395-A-G **
20643565-G-GTC 18481679-G-GTC P4_Prx **
26498659-C-T 24352512-C-T P1_Y1 **
25963857-C-A 23817710-C-A P1_Y1 ***
13206784-C-CAAA 11051108-C-CAAA 14×A***
15254650-G-GA 13142736-G-GA Y1965 9×A***
13474649-G-C 11318973-G-C ***
13474653-T-G 11318977-T-G ***
10682522-C-T ***
10987820-A-T ***
10794266-C-A,T ***
13450508-CCACTCCACTCCACTT-C,CCACTC 11294832-CCACTCCACTCCACTT-C,CCACTC ***
18825629-C-CAA 16713749-C-CAA 20×A***
24475096-G-T 22328949-G-T ***
10965561-T-C ***
13842687-G-A 11721981-G-A ***
15762024-G-T 13650144-G-T ***
10965621-C-CTGCAT ***
21302449-C-A 19140563-C-A ***
13801113-CGAATGGAATGGAATGGAATGGAATGGAATG-C 11680407-CGAATGGAATGGAATGGAATGGAATGGAATG-C 12×GAATG***
10911662-G-A ***
10911698-G-C ***
28698585-T-C 26552438-T-C ***
10949468-C-G ***
24435600-TA-T 22289453-TA-T 9×A***
10999949-C-A ***
8470549-CAAAAA-C 8602508-CAAAAA-C 22×A***
18793553-G-T 16681673-G-T ***
11643748-G-T ***
15669964-CAAAAAAA-C 13558084-CAAAAAAA-C 18×A***
20334973-A-G 18173087-A-G P5_Dst ***
10748011-C-CAGTTG ***
10748042-A-T ***
18184920-C-A 16073040-C-A ***
8274098-C-A 8406057-C-A ***
4521573-C-A 4653532-C-A ***
23475586-G-T 21313700-G-T ***
21656826-G-T 19494940-G-T ***
11014392-C-A ***
22893361-CTTTCTTTC-C,CT 20731475-CTTTCTTTC-C,CT ***
18060382-ATG-A,ATC 15948502-ATG-A,ATC ***
2718881-CTTTTTT-C,CTTT 2850840-CTTTTTT-C,CTTT 21×T***
13842697-G-A 11721991-G-A ***
14455109-C-A 12334382-C-A ***
15382885-G-A 13271005-G-A ***
16060108-G-A 13948228-G-A ***
16703746-C-T 14591866-C-T ***
18596061-AACACAC-A 16484181-AACACAC-A 16×AC***
21352859-T-C 19190973-T-C ***
23091137-C-A 20929251-C-A ***
21750936-C-T ***
13370136-G-T 11214460-G-T ***
15363836-G-A 13251956-G-A ***
5157612-T-C 5289571-T-C ***
13530079-CAAA-C,CA 11374403-CAAA-C,CA 24×A***
13940183-T-C 11819477-T-C ***
15940306-CAA-C,CA 13828426-CAA-C,CA 24×A***
19331529-A-G 17219649-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.