Big Tree: Person Data

Tree Position

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	STR	1kG HG03965
7921535-G-T	8053494-G-T	BY2899	ZS2874		Y	Y	9×T	+
22443755-C-T	20281869-C-T		BY155273	DYZ19				+
2711685-A-G	2843644-A-G	BY31960	Z34958		Y	Y		+
2976738-A-G	3108697-A-G		FT315604					+
3066475-G-T	3198434-G-T		FT315941					+
3163268-G-A	3295227-G-A		Y11975					+
3572771-A-G	3704730-A-G		FT317792					+
3832774-C-A	3964733-C-A		FT318642					+
3964184-A-G	4096143-A-G							+
4034762-T-C	4166721-T-C		FT319297					+
4149009-G-T	4280968-G-T		FT319686					+
4149044-A-T	4281003-A-T		FT319688					+
4246478-A-G	4378437-A-G		FT320014					+
4301845-A-C	4433804-A-C		FT381981					+
4459241-G-T	4591200-G-T		FT320714					+
4876738-A-G	5008697-A-G		FT321976					+
4893878-T-C	5025837-T-C							+
5112837-G-C	5244796-G-C		FT322789					+
5175023-G-A	5306982-G-A		FT322989					+
5195264-G-A	5327223-G-A							+
5655399-A-G	5787358-A-G		FT382171					+
5778406-C-G	5910365-C-G		FT325037					+
5873250-G-A	6005209-G-A							+
5884126-A-T	6016085-A-T		FT325386					+
6026911-C-T	6158870-C-T		FT325891					+
6535744-C-T	6667703-C-T		FT326848					+
6791421-A-G	6923380-A-G		Y8905		Y			+
6807268-T-G	6939227-T-G		FT381636		Y	Y		+
6862757-G-C	6994716-G-C		Y8906 Z16779		Y	Y		+
6938655-A-T	7070614-A-T		Y11259		Y	Y		+
7141877-G-A	7273836-G-A		FT310592		Y			+
7173813-A-G	7305772-A-G		Z34959		Y	Y		+
7266736-C-T	7398695-C-T		Y11965 Z16780		Y	Y		+
7544056-C-T	7676015-C-T		Z34960		Y	Y		+
7742045-T-C	7874004-T-C		FT310798		Y	Y		+
7848373-A-G	7980332-A-G		Y11971		Y	Y		+
8129001-C-G	8260960-C-G		FT310944		Y	Y		+
8129072-G-C	8261031-G-C		FT310945		Y	Y		+
8285501-A-G	8417460-A-G		Y8907 Z16781		Y	Y		+
8497409-G-A	8629368-G-A		FT311079		Y	Y		+
8907006-C-G	9038965-C-G		Y8908					+
9397895-C-A	9560286-C-A		FT311348		Y	Y		+
9796101-C-T	9958492-C-T		Y8909 Z16782		Y			+
9798619-C-A	9961010-C-A		FT311379		Y	Y		+
9949682-C-G	10112073-C-G				Y			+
10006331-C-T	10168722-C-T		FT271000		Y			+
10071103-G-A	10233494-G-A							+
13312488-G-A	11156812-G-A							+
13348147-C-T	11192471-C-T							+
13456354-C-G	11300678-C-G							+
13582122-C-G	11426446-C-G							+
13592585-C-A	11436909-C-A		FT383850					+
13614369-C-A	11458693-C-A		FT383851					+
13675368-G-C	11519692-G-C							+
13690457-T-C	11534781-T-C		BY88618					+
13875087-T-C	11754381-T-C		FT311415		Y			+
13936731-C-T	11816025-C-T				Y			+
13999173-C-T	11878467-C-T		FT311498		Y	Y		+
14084413-T-A	11963707-T-A		FT311557		Y	Y		+
14114415-C-T	11993709-C-T				Y			+
14114419-T-A	11993713-T-A				Y			+
14123054-G-T	12002348-G-T		FT311591		Y			+
14156025-C-T	12035319-C-T				Y			+
14204440-A-T	12083734-A-T		FT311646		Y			+
14253526-T-G	12132820-T-G		Y11970 Z16783		Y	Y		+
14412355-G-A	12291652-G-A	Y21284	Y21287 FGC46761		Y	Y		+
14585278-G-A	12473478-G-A		FT251672		Y			+
14588569-T-G	12476769-T-G		FT311860		Y	Y		+
14639065-T-G	12527134-T-G		FT311876		Y	Y		+
14922337-A-T	12810402-A-T		Y8910 Z16784		Y	Y		+
14989572-C-T	12877657-C-T		Y8911 Z16785		Y	Y		+
15077504-C-T	12965594-C-T		FT312071		Y	Y		+
15191843-C-T	13079929-C-T		Y11967 Z16786		Y	Y		+
15516029-T-C	13404149-T-C		Y8913 Z16787		Y	Y		+
15683339-C-T	13571459-C-T		FT312305		Y			+
15867057-T-C	13755177-T-C		FT312379		Y	Y		+
15867297-G-A	13755417-G-A		FT312380		Y	Y		+
15988408-G-T	13876528-G-T		FT312432		Y	Y		+
16084176-C-A	13972296-C-A		FGC78622		Y			+
16239090-C-G	14127210-C-G		Y8914 Z16788		Y	Y		+
16278145-G-A	14166265-G-A		BY44479		Y		9×C	+
16369257-G-A	14257377-G-A		Y8915 Z16789		Y	Y		+
16487065-A-C	14375185-A-C		Y8916 Z16790		Y	Y		+
16804718-C-A	14692838-C-A		Y8918 Z16791		Y	Y		+
16854030-G-A	14742150-G-A		Y8919 Z16792		Y	Y		+
16863382-C-A	14751502-C-A		Y11982 Z16793		Y	Y		+
16864952-C-A	14753072-C-A		Y8920 Z16794		Y	Y		+
17032717-G-A	14920837-G-A		FT312855		Y	Y		+
17062489-A-T	14950609-A-T		Y8921		Y			+
17095564-C-T	14983684-C-T		FT88102		Y			+
17116506-C-T	15004626-C-T		Y8922 Z16795		Y	Y		+
17294259-A-G	15182379-A-G		FT312958		Y	Y		+
17297035-G-A	15185155-G-A		Y98705		Y	Y		+
17447136-G-A	15335256-G-A		BY159602		Y	Y		+
17589056-G-A	15477176-G-A				Y	Y		+
17772963-G-A	15661083-G-A		Y11978 Z16796		Y	Y		+
18027624-G-A	15915744-G-A		FT313318		Y			+
18038321-A-T	15926441-A-T		FT313326		Y	Y		+
18099508-G-A	15987628-G-A		Y8923 Z16797		Y	Y		+
18138363-G-A	16026483-G-A		FT313389		Y			+
18392308-C-T	16280428-C-T		FT313464	P6_Gap				+
19026908-T-A	16915028-T-A				Y			+
19086393-G-T	16974513-G-T		Y11983 Z16813		Y	Y		+
19087313-A-G	16975433-A-G		FT313724		Y	Y		+
19091530-C-T	16979650-C-T		Y11257		Y	Y		+
19118259-T-C	17006379-T-C		Y11980 Z16798		Y	Y		+
19141516-C-G	17029636-C-G		Y8924 Z16799		Y	Y		+
19192425-T-C	17080545-T-C		Y8925 Z16800		Y	Y		+
19235769-C-A	17123889-C-A		FT313799		Y	Y		+
19322354-G-A	17210474-G-A		FT313833		Y	Y		+
19325117-G-A	17213237-G-A		FT283498		Y			+
19426178-C-T	17314298-C-T				Y			+
19472362-G-A	17360482-G-A		FT313904		Y	Y		+
19475693-C-G	17363813-C-G		Y8926 Z16801		Y	Y		+
21041763-T-C	18879877-T-C		Y8927 Z16802		Y			+
21094717-T-A	18932831-T-A		Y11984 Z16803		Y	Y		+
21120116-C-T	18958230-C-T		FT298238		Y			+
21184331-C-A	19022445-C-A		Y8934		Y	Y		+
21305769-C-T	19143883-C-T		BY131927		Y	Y		+
21336963-C-G	19175077-C-G		FT314125		Y			+
21402262-C-T	19240376-C-T		Y8928 Z16804		Y	Y		+
21434199-C-T	19272313-C-T		FT314187		Y	Y		+
21482101-G-T	19320215-G-T		Y8929 Z16805		Y	Y		+
21671851-G-C	19509965-G-C		FT314303		Y			+
22140814-T-C	19978928-T-C		Y11964 Z16806		Y	Y		+
22242977-C-T	20081091-C-T			DYZ19				+
22256071-A-T	20094185-A-T			DYZ19				+
22271163-G-A	20109277-G-A		FGC43153	DYZ19				+
22437504-T-G	20275618-T-G			DYZ19				+
22458678-G-A	20296792-G-A		Z16807	DYZ19				+
22462918-C-T	20301032-C-T		Z16808	DYZ19				+
22626639-T-C	20464753-T-C		Y8930 Z16809		Y	Y		+
22665511-G-A	20503625-G-A		FT314627		Y	Y		+
22686307-G-T	20524421-G-T		Y11968		Y	Y		+
22762572-G-A	20600686-G-A		Y11969 Z16810		Y	Y		+
22840925-A-T	20679039-A-T		FT314699		Y			+
23048947-T-C	20887061-T-C		FT314790		Y			+
23085782-G-A	20923896-G-A				Y			+
23183215-A-T	21021329-A-T				Y			+
23184098-A-G	21022212-A-G		FT314871		Y			+
23191740-G-T	21029854-G-T		FT314878		Y			+
23335395-G-A	21173509-G-A		FGC36576 BY4264		Y	Y		+
23364664-C-G	21202778-C-G		Y11981 Z16811		Y	Y		+
23415729-T-A	21253843-T-A		Y8931 Z16812		Y	Y		+
23549756-C-T	21387870-C-T		Y8932		Y	Y		+
24008242-C-G	21862095-C-G				Y			+
24373292-A-C	22227145-A-C					Y		+
28630511-C-T	26484364-C-T		FT178091					+
28724767-T-A	26578620-T-A		Y8933			Y		+
58992676-A-T	56846529-A-T							+

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.

1k Genomes

Tree Position

Unique Mutations