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	1kG HG02774
13686811-C-T	11531135-C-T		FGC61587				+
22175532-A-G	20013646-A-G		FGC61607 Z43573		Y	Y	+
9914280-G-A	10076671-G-A				Y		+
15317764-A-T	13205870-A-T		Y12710		Y	Y	+
3130907-C-A	3262866-C-A		Y12711				+
3806706-G-A	3938665-G-A		FT52023 FT318543				+
3945915-T-G	4077874-T-G		FT319017				+
4066911-G-A	4198870-G-A		FT3832				+
4074385-T-G	4206344-T-G		FT319432				+
4158969-T-C	4290928-T-C		FT319723				+
4159748-A-G	4291707-A-G		FT319726				+
4279931-C-T	4411890-C-T		FT3916				+
4293811-C-G	4425770-C-G		FT3918				+
4314228-A-C	4446187-A-C						+
4439999-A-G	4571958-A-G		Y27532				+
4766962-C-A	4898921-C-A		FT321685				+
4953967-C-G	5085926-C-G						+
4975888-C-T	5107847-C-T						+
5202563-G-A	5334522-G-A		FT323071				+
5566862-G-T	5698821-G-T		FT324332				+
5702131-C-T	5834090-C-T		FT324819				+
5707389-C-T	5839348-C-T		FGC38966				+
5902270-G-A	6034229-G-A						+
5940502-T-C	6072461-T-C		FT4460				+
5989036-A-C	6120995-A-C		FT325731				+
6048579-G-A	6180538-G-A		Y33873				+
6068936-G-A	6200895-G-A		FT326034				+
6136243-C-T	6268202-C-T		FGC52589				+
6158679-T-A	6290638-T-A		FT326198	IR3_Dst			+
6499069-T-G	6631028-T-G						+
6535663-T-C	6667622-T-C		FT326847				+
6587911-C-T	6719870-C-T		FT326919				+
6634116-C-T	6766075-C-T		FT327009		Y	Y	+
6807070-A-G	6939029-A-G		PR816		Y		+
6865884-A-G	6997843-A-G	FGC59359 FGC59344	FGC59344		Y	Y	+
6932998-T-C	7064957-T-C		S9634		Y	Y	+
7104869-A-G	7236828-A-G		FT327158		Y	Y	+
7133081-G-A	7265040-G-A		PH439		Y	Y	+
7255673-T-C	7387632-T-C		FGC61625		Y		+
7365594-G-T	7497553-G-T		FGC61581		Y	Y	+
7387053-G-T	7519012-G-T		Z43605 FGC61635		Y	Y	+
7462393-T-G	7594352-T-G		FGC78917	IR1_L			+
7557733-C-A	7689692-C-A		S10343		Y	Y	+
7631699-T-G	7763658-T-G				Y		+
7835657-G-A	7967616-G-A		Y12707		Y	Y	+
7954894-C-G	8086853-C-G		FGC61627 Z43584		Y	Y	+
7995177-G-A	8127136-G-A		Z43590 FGC61612		Y	Y	+
8029507-A-G	8161466-A-G		Y12407		Y	Y	+
8146947-C-T	8278906-C-T		FGC61596 Z43596		Y	Y	+
8274868-T-G	8406827-T-G		FGC61583 Z43582		Y	Y	+
8300964-G-T	8432923-G-T		FT327502		Y	Y	+
8307528-A-G	8439487-A-G		FGC61626 Z43599		Y	Y	+
8447095-C-T	8579054-C-T	BY33313	Y21542		Y	Y	+
8795954-C-A	8927913-C-A		Y12408		Y	Y	+
8859003-G-A	8990962-G-A		Z43594 FGC61614		Y	Y	+
9794030-A-T	9956421-A-T		FGC61602		Y		+
9816821-T-C	9979212-T-C		FGC61605 Z43598		Y	Y	+
9915961-G-A	10078352-G-A				Y		+
9951381-C-G	10113772-C-G				Y		+
10054330-G-A	10216721-G-A						+
13211454-C-A	11055778-C-A		FGC61624				+
13229088-C-A	11073412-C-A		FGC61611				+
13395248-G-T	11239572-G-T						+
13434940-C-A	11279264-C-A						+
13593410-G-T	11437734-G-T						+
13659528-A-G	11503852-A-G						+
13920978-C-G	11800272-C-G		FT328932		Y		+
13941088-G-A	11820382-G-A				Y		+
13963316-C-T	11842610-C-T		FT328958		Y		+
14034866-T-G	11914160-T-G		FT329010		Y		+
14051547-C-T	11930841-C-T		FGC61598 Z43606		Y	Y	+
14205315-A-G	12084609-A-G		Z43577		Y	Y	+
14306488-G-C	12185782-G-C		Y33876		Y		+
14396759-T-C	12276055-T-C		FGC61592 Z43607		Y	Y	+
14451021-T-C	12330294-T-C		Z43603 FGC61604		Y	Y	+
14477134-G-C	12356403-G-C		Z43604 FGC61609		Y	Y	+
14495628-G-A	12383825-G-A				Y	Y	+
14620051-A-G	12508249-A-G				Y		+
14671601-T-A	12559667-T-A		Z28504		Y		+
14750639-C-T	12638708-C-T		Z43567		Y	Y	+
14955146-G-A	12843221-G-A		FGC61636 Z43574		Y	Y	+
15203746-C-T	13091832-C-T		Z43591 FGC61595		Y	Y	+
15314086-C-A	13202191-C-A		Y12409 Z28463		Y	Y	+
15391292-G-A	13279412-G-A				Y	Y	+
15405981-G-C	13294101-G-C		Z43569 FGC61608		Y	Y	+
15525309-G-T	13413429-G-T		FGC61633 Z43571		Y	Y	+
15631909-C-G	13520029-C-G		FT329690		Y	Y	+
15632863-T-C	13520983-T-C		Z6048		Y	Y	+
15716410-A-G	13604530-A-G		FT329727		Y	Y	+
15854884-T-C	13743004-T-C				Y		+
16009432-G-A	13897552-G-A		FGC71962		Y		+
16270041-G-T	14158161-G-T		S18075		Y	Y	+
16323803-C-A	14211923-C-A				Y		+
16324973-G-A	14213093-G-A		Z43597 FGC61588		Y	Y	+
16392708-T-A	14280828-T-A		Z43589 FGC61594		Y	Y	+
16468761-G-T	14356881-G-T		Y33877		Y		+
16612941-C-T	14501061-C-T		FGC61615 Z43576		Y	Y	+
16716062-A-G	14604182-A-G		Z43595 FGC61585		Y	Y	+
16840372-A-C	14728492-A-C		Z43602 FGC61617		Y	Y	+
16930371-C-T	14818491-C-T		Y33878		Y		+
16964109-G-A	14852229-G-A				Y	Y	+
16964110-C-G	14852230-C-G		Y33879		Y	Y	+
17125984-A-G	15014104-A-G		Z6050		Y		+
17255578-G-A	15143698-G-A		Z43580 FGC61618		Y	Y	+
17510870-T-C	15398990-T-C		FGC61584 Z43601		Y	Y	+
17538192-C-T	15426312-C-T		Y33880		Y	Y	+
17567490-G-C	15455610-G-C				Y	Y	+
17595469-T-C	15483589-T-C		Z43592 FGC61603		Y	Y	+
17840953-C-G	15729073-C-G		Z43575 FGC61599		Y	Y	+
17841071-A-T	15729191-A-T		FGC61632 Z43586		Y	Y	+
17909298-C-T	15797418-C-T		Z43600 FGC61628		Y	Y	+
17933586-C-T	15821706-C-T		Y33881		Y		+
17938828-C-T	15826948-C-T				Y	Y	+
18064382-C-T	15952502-C-T		FGC61634 Z43588		Y	Y	+
18093651-G-A	15981771-G-A		FGC61597		Y		+
18108153-C-A	15996273-C-A		Z43593 FGC61593		Y	Y	+
18242895-G-C	16131015-G-C		FT330807			Y	+
18697673-C-T	16585793-C-T		Z43581 FGC61637		Y	Y	+
19061515-G-A	16949635-G-A		Z43585 FGC61589		Y	Y	+
19171219-A-T	17059339-A-T		Y12708 Z28440		Y		+
19458682-C-A	17346802-C-A		Z43579 FGC61582		Y	Y	+
19546105-C-T	17434225-C-T		Y31773		Y	Y	+
21087051-C-T	18925165-C-T		Y33882		Y	Y	+
21187112-C-T	19025226-C-T		Z43572 FGC61621		Y	Y	+
21260754-C-T	19098868-C-T		FGC61631 Z43578		Y	Y	+
21285034-T-A	19123148-T-A		Y31774		Y	Y	+
21337045-A-G	19175159-A-G		Z6052		Y		+
21351496-G-A	19189610-G-A		Y33883		Y		+
21356868-G-A	19194982-G-A		FGC61638 Z43587		Y	Y	+
21368260-A-ATG	19206374-A-ATG						+
21416552-G-A	19254666-G-A		Y12411 Z28458		Y	Y	+
21689790-C-T	19527904-C-T		FGC61590 Z43570		Y	Y	+
21786803-G-T	19624917-G-T				Y		+
22184959-C-T	20023073-C-T		S24092		Y	Y	+
22225676-C-A	20063790-C-A		F13191	DYZ19			+
22278218-T-C	20116332-T-C			DYZ19			+
22300278-T-A	20138392-T-A		Y31775	DYZ19			+
22423339-T-A	20261453-T-A		FGC78915	DYZ19			+
22437576-T-A	20275690-T-A			DYZ19			+
22468408-G-T	20306522-G-T		FGC78916	DYZ19			+
22563247-T-C	20401361-T-C		Y12412 Z28495		Y	Y	+
22603132-A-G	20441246-A-G		FGC61613 Z43568		Y	Y	+
22619697-G-A	20457811-G-A				Y		+
22690403-A-G	20528517-A-G				Y		+
22691385-C-T	20529499-C-T		Y18967		Y		+
22881184-T-C	20719298-T-C		Y31776		Y	Y	+
22939963-G-A	20778077-G-A		BY12384		Y	Y	+
23087644-C-T	20925758-C-T		Y33885		Y	Y	+
23120059-G-C	20958173-G-C				Y	Y	+
23189310-C-G	21027424-C-G		FGC61580		Y		+
23514596-A-G	21352710-A-G		Z43583 FGC61620		Y	Y	+
24513321-G-C	22367174-G-C		FT332915				+
28577763-C-A	26431616-C-A						+
28579391-C-T	26433244-C-T						+
28581459-T-A	26435312-T-A						+
28676468-T-C	26530321-T-C		FT333032				+
28742855-A-G	26596708-A-G		FGC61622				+
28785890-G-T	26639743-G-T		Z6054				+

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