Tree Position

R-M269 > L23 > L51 > P310 > L151 > A8053 > FGC37082

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
IN90578
26018403-T-TTG 23872256-T-TTG P1_Y1 14×TGA*
13195044-T-C 11039368-T-C A*
13194970-T-A 11039294-T-A A*
3714556-T-C 3846515-T-C PF7417 A*
13194976-C-G 11039300-C-G A*
58982974-T-G 56836827-T-G A*
3583549-A-G 3715508-A-G S8595 A*
3699160-G-A 3831119-G-A A*
3927225-A-G 4059184-A-G A*
13266520-G-T 11110844-G-T A*
58979250-C-A 56833103-C-A A*
13472354-G-A 11316678-G-A A*
10982901-C-T BY84068 A*
13488775-C-A 11333099-C-A A*
10952259-A-C A*
13449880-A-G 11294204-A-G A*
10802015-A-C A*
10925594-T-C A*
10645926-G-C A*
13488796-G-T 11333120-G-T A*
11018205-C-T A*
11643748-G-T A*
10952268-T-G A*
13478171-G-T 11322495-G-T A*
56832852-T-G A*
28801235-C-T 26655088-C-T A*
58978072-C-T 56831925-C-T A*
4854252-G-A 4986211-G-A FT321908 A*
28816748-G-C 26670601-G-C A*
56836776-C-T A*
56831705-C-T A*
19647571-C-CT 17535691-C-CT P5_Prx 16×TA*
11037074-A-ACTCC A*
13447318-A-T 11291642-A-T A*
20943477-C-CTG 18781591-C-CTG P4_Dst 12×TGA*
56831642-A-ACTCCT A*
4517563-A-G 4649522-A-G A*
6162346-A-C 6294305-A-C IR3_Dst A*
28817555-A-T 26671408-A-T A*
6335095-T-C 6467054-T-C IR3_Dst A*
10754862-T-A A*
14441121-G-T 12320394-G-T YA*
20652995-C-CAA 18491109-C-CAA P4_Prx 18×AA*
20684334-G-C 18522448-G-C P4_Prx A*
22455426-T-C 20293540-T-C DYZ19 A*
25545832-G-A 23399685-G-A P1_gr1 A*
26118517-T-G 23972370-T-G P1_Y1 A*
26310902-A-G 24164755-A-G P1_Y1 A*
26339063-C-T 24192916-C-T P1_Y1 A*
26392551-C-A 24246404-C-A P1_Y1 A*
56885628-A-G A*
6985131-G-A 7117090-G-A PH367PH367 YY+
13825078-G-A 11704372-G-A FT417983 +
11000402-C-G FGC81392 +
6730947-G-T 6862906-G-T FT417654 Y+
2705340-C-T 2837299-C-T FT417169 YY+
3009574-C-A 3141533-C-A FT417204 +
4138844-A-G 4270803-A-G FT417329 +
4371932-A-G 4503891-A-G FT417372 +
4489632-A-G 4621591-A-G FT417392 +
4863633-C-T 4995592-C-T FT417433 +
5667865-T-G 5799824-T-G FT417541 +
6933098-C-G 7065057-C-G FT417679 YY+
7243986-G-A 7375945-G-A FT417706 YY+
7699557-C-A 7831516-C-A FT417753 YY+
8616992-G-A 8748951-G-A FT417868 YY+
8620600-C-T 8752559-C-T FT419219 br2 YY+
8631738-G-T 8763697-G-T FT417870 YY+
8686107-G-C 8818066-G-C FT417879 YY+
9111170-A-G FT417902 +
9078587-A-T 9240978-A-T FT417924 +
9118844-C-T 9281235-C-T FT417930 Y+
9809558-T-G 9971949-T-G FT417965 YY+
9919052-G-C 10081443-G-C FT426524 Y+
13861448-G-A 11740742-G-A FT417997 +
14198263-C-A 12077557-C-A FT418059 YY+
14279385-C-A 12158679-C-A FT418073 Y+
14419432-G-C 12298707-G-C FT418100 YY+
14565834-A-G 12454034-A-G FT418121 Y+
15255861-C-A 13143945-C-A FT418190 YY+
16707069-T-C 14595189-T-C FT418357 Y+
16715053-G-A 14603173-G-A FT418359 YY+
16723084-T-C 14611204-T-C FT418360 Y+
16843752-GAAGT-G 14731872-GAAGT-G +
16972912-C-T 14861032-C-T FT418387 Y+
17473121-C-A 15361241-C-A FT418453 YY+
17759250-G-A 15647370-G-A FT418487 YY+
17814184-C-G 15702304-C-G FT418497 YY+
17925073-C-A 15813193-C-A FT418512 YY+
19457070-C-T 17345190-C-T FT418715 YY+
19457228-TG-T 17345348-TG-T +
21106567-T-C 18944681-T-C FT418731 YY+
21227604-G-A 19065718-G-A FT418748 YY+
22892745-G-A 20730859-G-A FT419390 YY+
23292686-C-T 21130800-C-T FT419008 YY+
23559786-G-C 21397900-G-C FT419036 YY+
3713457-G-A 3845416-G-A S8631 *
3714732-T-C 3846691-T-C *
3720187-A-G 3852146-A-G S8752 *
13711114-TGAATG-T 11555438-TGAATG-T 11×GAATG*
7392188-TTGTG-T 7524147-TTGTG-T 20×TG*
3585785-T-C 3717744-T-C *
3586810-T-C 3718769-T-C *
3765483-G-A 3897442-G-A *
3765566-C-T 3897525-C-T *
3658436-G-A 3790395-G-A *
10884786-CCATTT-C,CAATTC *
10982191-CTCCAT-C *
3701364-A-C 3833323-A-C *
3701365-C-A 3833324-C-A *
3701368-T-TAAC 3833327-T-TAAC *
3701370-TGCTAAAACCAG-T 3833329-TGCTAAAACCAG-T *
13470189-G-T 11314513-G-T *
19997560-ATA-A,ATG 17885680-ATA-A,ATG P5_Prx *
6408278-C-T 6540237-C-T *
6408281-C-T 6540240-C-T *
6861230-TTTTCTTTC-T 6993189-TTTTCTTTC-T 17×TTTC**
8150987-GT-G 8282946-GT-G 11×T**
23476024-T-G 21314138-T-G A641A641 FGC19598 **
3881944-G-T 4013903-G-T **
17745203-T-TA 15633323-T-TA Y1960 **
59017780-T-A 56871633-T-A **
22477340-T-G 20315454-T-G BY155328 DYZ19 **
14389586-GA-G 12268882-GA-G 10×A**
19073871-C-T 16961991-C-T A3877 **
15866268-CAAAAAAAAAAAAAAAAAAAAAAAAA-C 13754388-CAAAAAAAAAAAAAAAAAAAAAAAAA-C 43×A**
6040608-CA-C 6172567-CA-C 10×A**
4275258-CAAA-C 4407217-CAAA-C 21×A**
17158968-CTTTTT-C 15047088-CTTTTT-C 26×T**
10004883-GTA-G 10167274-GTA-G **
22023201-CTTTTTT-C 19861315-CTTTTTT-C 20×T**
13453347-T-A 11297671-T-A **
4982523-ATTT-A 5114482-ATTT-A 23×T**
7895930-C-A 8027889-C-A **
4763468-CA-C 4895427-CA-C 25×A**
28791326-T-C 26645179-T-C **
4437837-G-A 4569796-G-A **
5986595-GTT-G 6118554-GTT-G 28×T**
19518621-C-G 17406741-C-G **
13479203-G-C 11323527-G-C **
3962434-TA-T 4094393-TA-T 10×A**
5563451-CTT-C 5695410-CTT-C 11×T**
6346230-T-C 6478189-T-C **
17466806-G-A 15354926-G-A **
22967779-C-CA 20805893-C-CA 8×A**
7383851-C-CAA 7515810-C-CAA 24×A**
3709124-TTGAC-T 3841083-TTGAC-T **
4521304-A-T 4653263-A-T **
4563443-G-A 4695402-G-A **
4719158-T-C 4851117-T-C **
5253138-T-C 5385097-T-C **
5388143-C-A 5520102-C-A **
5805351-C-CA 5937310-C-CA **
6671714-T-A 6803673-T-A **
6698776-T-A 6830735-T-A **
6730846-C-A 6862805-C-A **
7238324-A-G 7370283-A-G **
8656413-T-G 8788372-T-G **
8721146-ATGCCAAATTAT-A 8853105-ATGCCAAATTAT-A **
9476777-GA-G 9639168-GA-G **
10002361-T-C 10164752-T-C **
10623981-T-A **
10632297-A-C **
13404599-T-C 11248923-T-C **
13622763-A-G 11467087-A-G **
15008158-T-TCAGA 12896243-T-TCAGA **
18647581-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT-C 16535701-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT-C 56×T**
22270256-G-T 20108370-G-T DYZ19 **
22477198-T-C 20315312-T-C DYZ19 **
22477329-G-T 20315443-G-T DYZ19 **
22489219-G-T 20327333-G-T BY225054 DYZ19 **
24246920-T-C 22100773-T-C P3_b1 **
24360294-T-C 22214147-T-C **
26154896-T-G 24008749-T-G P1_Y1 **
27971766-C-CAAAGA 25825619-C-CAAAGA P1_Y2 4×AAAGA**
18512434-CTG-C 16400554-CTG-C P6_Dst 17×TG***
13467565-T-C 11311889-T-C BY85774 ***
3717102-GACA-G 3849061-GACA-G ***
6458072-A-AT 6590031-A-AT 13×T***
15874319-CAA-C 13762439-CAA-C 15×A***
13489835-C-T 11334159-C-T ***
8972873-G-A 9135264-G-A BY512BY513 ***
14993397-T-TA 12881482-T-TA 15×A***
15590931-A-AT 13479051-A-AT 10×T***
17480035-G-GA 15368155-G-GA 12×A***
18778362-T-TA 16666482-T-TA 12×A***
18909591-CT-C 16797711-CT-C 10×T***
2973369-C-T 3105328-C-T FT223172 ***
3581472-T-C 3713431-T-C ***
3737115-G-A 3869074-G-A FT82596 ***
13271784-AAAAC-A 11116108-AAAAC-A ***
2686422-A-T 2818381-A-T CTS45 M2130 ***
5022037-AAT-A 5153996-AAT-A ***
22510137-G-T 20348251-G-T BY34325 DYZ19 ***
25201091-A-G 23054944-A-G g1 15×AAGG***
17946635-CTTTT-C 15834755-CTTTT-C 20×T***
7154797-CAA-C 7286756-CAA-C 18×A***
19103893-TG-T,TT 16992013-TG-T,TT ***
5574077-C-CT 5706036-C-CT 19×T***
9100107-CTTT-C 9262498-CTTT-C 18×T***
13453186-T-C 11297510-T-C ***
13869135-G-A 11748429-G-A ***
6586786-CTTTT-C 6718745-CTTTT-C 22×T***
13488684-A-T 11333008-A-T ***
22514986-TA-T 20353100-TA-T 8×A***
5303350-A-ATT 5435309-A-ATT 22×T***
10925481-C-T ***
10982851-C-T BY84065 ***
10653761-T-C ***
23633371-CTTTT-C 21471485-CTTTT-C 21×T***
10768596-A-G FT191111 ***
10768603-T-A ***
10768612-C-A ***
10768621-T-G ***
10962910-A-ATCCAT ***
13203566-CAAAA-C 19×A***
8631383-CTTT-C 8763342-CTTT-C 26×T***
11037095-C-T ***
3093161-C-CT 3225120-C-CT 10×T***
10964821-G-T ***
13485704-A-G 11330028-A-G ***
2777828-TAA-T,TA 2909787-TAA-T,TA 15×A***
5084277-AT-A 5216236-AT-A 10×T***
14495831-GGTGT-G 12384028-GGTGT-G 17×GT***
3646872-CAAA-C 3778831-CAAA-C 15×A***
13476141-G-A 11320465-G-A ***
10682484-T-C ***
18106353-GTT-G 15994473-GTT-G 15×T***
7758720-CTTTT-C 7890679-CTTTT-C 17×T***
16370648-CAAA-C 14258768-CAAA-C 17×A***
28634133-TAA-T 26487986-TAA-T 10×A***
15138012-C-CT 13026099-C-CT 15×T***
15411267-A-G 13299387-A-G ***
10952287-T-C ***
13457745-C-A 11302069-C-A ***
28525344-C-CA 26379197-C-CA 11×A***
16495963-CT-C 14384083-CT-C 9×T***
17431152-G-GT 15319272-G-GT 10×T***
23438900-TC-T 21277014-TC-T ***
17951299-ATT-A,AT 15839419-ATT-A,AT 25×T***
16265102-AT-A 14153222-AT-A 9×T***
4890502-TA-T 5022461-TA-T 9×A***
15209521-TA-T 13097607-TA-T 9×A***
15411259-A-G 13299379-A-G ***
2707975-GT-G,GTT 2839934-GT-G,GTT 18×T***
17581950-A-AAT 15470070-A-AAT ***
18565591-A-ATT 16453711-A-ATT 15×T***
5380518-C-CAA 5512477-C-CAA 16×A***
15980721-TAAAA-T,TAAA 13868841-TAAAA-T,TAAA 17×A***
15179986-CAAAA-C 13068072-CAAAA-C 15×A***
21858259-TAA-T,TAAA 19696373-TAA-T,TAAA 14×A***
13467606-G-A 11311930-G-A ***
13467586-A-G 11311910-A-G ***
3741695-G-C 3873654-G-C ***
2930319-GTTT-G 3062278-GTTT-G 26×T***
13467545-C-A 11311869-C-A ***
13467564-C-G 11311888-C-G ***
13463183-TAC-CAC,T 11307507-TAC-CAC,T ***
3916934-CAA-C,CA 4048893-CAA-C,CA 20×A***
16441986-C-T 14330106-C-T ***
3327780-A-G 3459739-A-G ***
17819480-T-C 15707600-T-C ***
3188852-T-C 3320811-T-C ***
3636108-T-G 3768067-T-G ***
3658559-G-T 3790518-G-T ***
3952340-TGAGA-T,TGA 4084299-TGAGA-T,TGA 20×GA***
4274598-C-T 4406557-C-T ***
4309872-C-G 4441831-C-G ***
4918709-C-T 5050668-C-T ***
5251554-A-G 5383513-A-G ***
5433906-T-C 5565865-T-C ***
5454163-T-C 5586122-T-C ***
5976141-A-G 6108100-A-G ***
6457484-CTTT-C,CTTTT 6589443-CTTT-C,CTTTT 17×T***
7220205-T-C 7352164-T-C ***
7346926-G-A 7478885-G-A ***
7388902-T-C 7520861-T-C ***
7978469-T-A 8110428-T-A ***
9062133-A-T 9224524-A-T ***
9062173-G-A 9224564-G-A ***
10875752-GTTCCATTCCATTCCATTCCATTCCA-G ***
14621022-T-C 12509220-T-C ***
14778634-T-C 12666704-T-C ***
15024385-C-T 12912473-C-T FTA31121 ***
15073452-T-G 12961542-T-G ***
15411257-A-G 13299377-A-G ***
15411273-C-G 13299393-C-G ***
16411134-A-G 14299254-A-G ***
16679099-ATTTTTTTT-A,AT 14567219-ATTTTTTTT-A,AT 25×T***
16918284-A-G 14806404-A-G ***
16918285-C-T 14806405-C-T ***
17093358-T-C 14981478-T-C FT34747 ***
17187634-C-CAAA 15075754-C-CAAA 15×A***
20824777-T-C 18662891-T-C P4_Gap ***
21119615-G-A 18957729-G-A ***
21144061-A-T 18982175-A-T ***
21468579-A-AC 19306693-A-AC ***
21730548-ATTTT-A,ATT 19568662-ATTTT-A,ATT 23×T***
21895724-T-C 19733838-T-C ***
22446254-A-G 20284368-A-G FT457097 DYZ19 ***
22510144-C-T 20348258-C-T BY225614 DYZ19 ***
22510148-C-T 20348262-C-T DYZ19 ***
22785495-A-T 20623609-A-T ***
24378947-G-A 22232800-G-A ***
28613325-CT-C 26467178-CT-C ***

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.