Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > L2/S139 > Z41150 > FGC22501 > FGC22538 > 7063815-C-G

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
89794
3659790-G-A 3791749-G-A A+
20779926-T-C 18618040-T-C P4_Prx A+
4915143-C-A 5047102-C-A A*
19579263-G-A 17467383-G-A P5_Prx YA*
20557621-C-CTG 18395735-C-CTG P5_Dst 19×TGA*
19812419-T-A 17700539-T-A P5_Prx A*
28817814-G-T 26671667-G-T A*
13489961-C-A 11334285-C-A A*
28817207-A-C 26671060-A-C A*
13447318-A-T 11291642-A-T A*
4915106-T-C 5047065-T-C A*
4895153-A-TT 5027112-A-TT A*
56832302-T-C A*
5343991-G-C 5475950-G-C A*
5826370-T-A 5958329-T-A A*
6108743-C-T 6240702-C-T A*
13699590-C-G 11543914-C-G A*
19576983-T-C 17465103-T-C P5_Prx YA*
19856933-C-T 17745053-C-T P5_Prx A*
20676107-G-A 18514221-G-A P4_Prx A*
20767401-G-T 18605515-G-T P4_Prx A*
22310037-G-T 20148151-G-T DYZ19 A*
25861941-T-G 23715794-T-G P1_Y1 A*
26028819-T-C 23882672-T-C P1_Y1 A*
26108381-T-C 23962234-T-C P1_Y1 A*
3671512-C-A 3803471-C-A FT402806 +
3823378-CACA-C 3955337-CACA-C +
4482649-G-C 4614608-G-C FT402889 +
5176947-C-G 5308906-C-G FT402941 +
5295071-G-A 5427030-G-A FT402958 +
5847926-G-A 5979885-G-A +
7191784-C-T 7323743-C-T FT403128 YY+
7337723-G-A 7469682-G-A FT403141 Y+
7673817-G-GA 7805776-G-GA +
7724998-G-GA 7856957-G-GA 8×A+
7751446-A-G 7883405-A-G FT403172 YY+
8439958-CTTTA-C 8571917-CTTTA-C +
10007034-G-A 10169425-G-A Y+
10976399-C-T FT438846 +
10990170-G-A FT439412 +
13672227-T-C 11516551-T-C FT447878 +
13870125-A-T 11749419-A-T FT403362 +
14264705-TA-T 12143999-TA-T +
14603094-GTC-G 12491296-GTC-G +
14872986-G-C 12761056-G-C FT403484 YY+
14984734-A-G 12872802-A-G FT403491 YY+
15484814-G-A 13372934-G-A FT403522 YY+
16598101-C-A 14486221-C-A FT117570 YY+
16792979-C-T 14681099-C-T FT274385 YY+
16992663-C-A 14880783-C-A FT180888 YY+
17597057-C-T 15485177-C-T FT403696 YY+
17891572-G-A 15779692-G-A FT403737 YY+
18026017-T-A 15914137-T-A FT403747 Y+
18390502-G-T 16278622-G-T FT403778 P6_Gap +
19280476-T-C 17168596-T-C FT403850 YY+
19449480-G-C 17337600-G-C FT403870 YY+
21258355-G-T 19096469-G-T FT403906 YY+
21370349-C-T 19208463-C-T FT302331 YY+
22076203-C-T 19914317-C-T FT403984 YY+
22740367-T-A 20578481-T-A FT404021 YY+
23187940-G-A 21026054-G-A FT404059 Y+
23277057-A-T 21115171-A-T FT404071 Y+
5458725-C-A 5590684-C-A *
5818131-TAGATAGATAGAC-T 5950090-TAGATAGATAGAC-T *
5087184-C-T 5219143-C-T *
59012871-G-A 56866724-G-A *
10836554-C-T *
10796118-ATTCCA-A,ATTCCG *
4895188-A-G 5027147-A-G *
5828120-C-A 5960079-C-A *
4416300-A-G 4548259-A-G **
4898476-G-C 5030435-G-C **
5736940-GTA-G 5868899-GTA-G BY39087 **
17382968-ATG-A 15271088-ATG-A FTB43177 **
13540959-T-A 11385283-T-A **
16612582-T-TAC 14500702-T-TAC 10×AC**
56828012-TC-T **
28818061-A-G 26671914-A-G **
28818076-G-T 26671929-G-T **
21337597-G-GT 19175711-G-GT 9×T**
17784422-TC-T 15672542-TC-T **
28818091-T-G 26671944-T-G **
28818089-A-G 26671942-A-G **
17169876-C-T 15057996-C-T **
17581950-A-AAT 15470070-A-AAT **
9825138-C-A 9987529-C-A **
19677963-T-G 17566083-T-G P5_Prx **
17703464-A-T 15591584-A-T 9×T**
13466971-G-A 11311295-G-A **
13721854-A-G 11566178-A-G **
2897409-A-G 3029368-A-G **
3559832-A-C 3691791-A-C FT211207 **
3632014-A-G 3763973-A-G **
4019239-C-A 4151198-C-A **
4731007-G-A 4862966-G-A FT238618 **
4920969-A-G 5052928-A-G **
5609972-TAA-T 5741931-TAA-T **
5635461-C-T 5767420-C-T **
5887260-T-G 6019219-T-G **
5902892-T-C 6034851-T-C **
6539094-C-T 6671053-C-T **
6659393-T-C 6791352-T-C **
6698692-A-G 6830651-A-G **
7513231-A-G 7645190-A-G **
8216120-G-A 8348079-G-A **
8280981-T-C 8412940-T-C **
8323424-A-G 8455383-A-G **
9020711-A-G 9183102-A-G **
14148058-T-C 12027352-T-C **
14937633-G-T 12825698-G-T **
14994888-T-G 12882973-T-G **
15192899-T-G 13080985-T-G **
15761898-A-G 13650018-A-G **
16564333-T-C 14452453-T-C **
16647954-C-G 14536074-C-G **
17321333-G-A 15209453-G-A **
17966986-T-C 15855106-T-C **
18817662-A-G 16705782-A-G **
19155912-C-T 17044032-C-T **
21062100-T-A 18900214-T-A **
21062101-T-A 18900215-T-A **
21508869-A-T 19346983-A-T **
22065833-G-C 19903947-G-C **
22471251-T-C 20309365-T-C DYZ19 **
22472119-G-C 20310233-G-C DYZ19 **
22870555-T-C 20708669-T-C **
23416877-G-T 21254991-G-T **
23464011-CT-C 21302125-CT-C **
23563555-T-C 21401669-T-C **
26095568-C-CA 23949421-C-CA P1_Y1 **
28524165-C-G 26378018-C-G **
28602944-G-A 26456797-G-A **
10843-A-T **
5142899-GAAGAT-G 5274858-GAAGAT-G ***
4635856-T-A 4767815-T-A Y27983 ***
5570889-C-T 5702848-C-T ***
5570902-T-C 5702861-T-C ***
13466958-A-G 11311282-A-G ***
15424313-G-GAA 13312433-G-GAA 14×A***
22723058-TA-T 20561172-TA-T 10×A***
13142986-T-C 10632472-T-C ***
13236471-C-CAT 11080795-C-CAT ***
13611021-AT-A 11455345-AT-A 8×T***
18996884-CT-C,CTT 16885004-CT-C,CTT 13×T***
21238631-A-C 19076745-A-C ***
8704030-CTTT-C 8835989-CTTT-C 13×T***
8705698-CTT-C,CT 8837657-CTT-C,CT 16×T***
15257262-CA-C,CAA 13145346-CA-C,CAA 14×A***
5796957-GAA-G 5928916-GAA-G 13×A***
5203779-T-TA 5335738-T-TA 24×A***
23196627-TA-T,TAA 21034741-TA-T,TAA 17×A***
21899655-C-CT 19737769-C-CT 9×T***
13490006-A-T 11334330-A-T ***
5757308-CAAA-C 5889267-CAAA-C 18×A***
13696663-G-T 11540987-G-T ***
13696671-G-A 11540995-G-A ***
13483150-G-A 11327474-G-A ***
9856122-A-T 10018513-A-T ***
22072885-G-GA 19910999-G-GA 10×A***
10801683-A-G ***
6694444-CTTTTT-C 6826403-CTTTTT-C 20×T***
5071123-T-G 5203082-T-G ***
3015575-T-TACAC 3147534-T-TACAC 17×AC***
13271782-AAAAAAC-A,AAAAAAAC 11116106-AAAAAAC-A,AAAAAAAC ***
7582106-CAA-C,CAAA 7714065-CAA-C,CAAA 14×A***
5784062-CAAAAA-C 5916021-CAAAAA-C 21×A***
6659420-T-A 6791379-T-A FT238952 ***
2897513-G-A 3029472-G-A ***
3916811-C-A 4048770-C-A ***
3920760-A-G 4052719-A-G ***
4408350-A-G 4540309-A-G ***
4467052-G-T 4599011-G-T ***
4635866-G-A 4767825-G-A ***
4637303-C-T 4769262-C-T ***
4705348-T-C 4837307-T-C ***
4724157-T-C 4856116-T-C ***
4965666-C-T 5097625-C-T FT33417 ***
4965747-C-T 5097706-C-T ***
5157219-A-G 5289178-A-G ***
5225465-T-A 5357424-T-A ***
5278078-TTGTG-T,TTGTGTG 5410037-TTGTG-T,TTGTGTG 14×TG***
5368370-G-A 5500329-G-A ***
5611204-C-CT 5743163-C-CT 8×T***
5920497-T-C 6052456-T-C ***
6659258-C-A 6791217-C-A ***
6780870-CAAAA-C,CAA 6912829-CAAAA-C,CAA 26×A***
6928570-T-C 7060529-T-C ***
7332659-T-A 7464618-T-A ***
7332662-T-A 7464621-T-A ***
7665386-G-A 7797345-G-A ***
9094482-T-C 9256873-T-C ***
9404423-T-A 9566814-T-A ***
9404426-T-A 9566817-T-A ***
9516738-GT-G,GTT 9679129-GT-G,GTT 12×T***
9789109-A-G 9951500-A-G ***
13808726-A-C 11688020-A-C ***
13811022-A-G 11690316-A-G ***
13947586-A-G 11826880-A-G ***
14145711-G-T 12025005-G-T ***
14949308-A-G 12837382-A-G ***
15041328-T-C 12929418-T-C ***
15480916-T-C 13369036-T-C ***
15580149-C-CAA 13468269-C-CAA 10×A***
16421709-A-C 14309829-A-C ***
16913308-T-C 14801428-T-C ***
16950327-A-T 14838447-A-T ***
17852243-T-A 15740363-T-A ***
19073940-T-TAC 16962060-T-TAC ***
19391597-G-A 17279717-G-A ***
19521604-T-A 17409724-T-A ***
19521628-A-G 17409748-A-G ***
21120084-T-A 18958198-T-A ***
21359732-G-T 19197846-G-T ***
21492570-A-G 19330684-A-G ***
21559061-T-A 19397175-T-A ***
21651632-T-C 19489746-T-C ***
22231053-G-T 20069167-G-T DYZ19 ***
22299630-G-T 20137744-G-T DYZ19 ***
22431144-G-T 20269258-G-T DYZ19 ***
22538443-C-T 20376557-C-T ***
22739833-T-C 20577947-T-C ***
22877186-G-A 20715300-G-A ***
28635254-G-A 26489107-G-A ***
28781584-T-C 26635437-T-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.