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)	Names	Region	McDonald BED	combBED	STR	BigY3 756243	BigY2 756243
14102271-A-G	11981565-A-G	FT272375		Y	Y			A*
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×A	A*
20229557-T-TAC	18067671-T-TAC		P5_Dst			18×AC	A*
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	Y			A*
25612318-C-T	23466171-C-T		P1_gr1				A*
23225335-T-C	21063449-T-C	CTS11685		Y			+
7228185-A-G	7360144-A-G	BY64038		Y	Y		+	+
13922589-AT-A	11801883-AT-A						+	**
21310674-A-G	19148788-A-G	BY131985		Y	Y		+	+
21434886-G-A	19273000-G-A	BY132897		Y	Y		+	+
22095217-TCA-T	19933331-TCA-T						+	+
22179600-C-A	20017714-C-A	BY138203		Y	Y		+	+
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.

Gilleece/Gillis

Tree Position

Unique Mutations