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	Kane-BY3 454875
17220810-G-T	15108930-G-T			Y			+
2649715-G-C	2781674-G-C			Y			+
5736199-G-A	5868158-G-A	FT80630					+
6504095-G-A	6636054-G-A	FT80689					+
6866955-T-C	6998914-T-C			Y	Y		+
7647336-C-A	7779295-C-A			Y	Y		+
7688376-T-G	7820335-T-G			Y	Y		+
7899080-G-A	8031039-G-A			Y	Y		+
7922775-G-A	8054734-G-A			Y	Y		+
8333522-C-CTTCTTG	8465481-C-CTTCTTG						+
8392766-CA-C	8524725-CA-C						+
8644324-C-CAAAAAAA	8776283-C-CAAAAAAA					32×A	+
9832628-GC-G	9995019-GC-G						+
9984466-A-T	10146857-A-T			Y			+
13496494-G-T	11340818-G-T						+
13513660-C-G	11357984-C-G	FT230061					+
13579399-G-T	11423723-G-T						+
13641666-G-A	11485990-G-A	FT230060					+
13678228-CTCGAATGGAATGGAG-C	11522552-CTCGAATGGAATGGAG-C						+
14062010-C-CAAAAAAAA	11941304-C-CAAAAAAAA					34×A	+
14079200-C-G	11958494-C-G			Y	Y		+
14314420-C-T	12193714-C-T			Y	Y		+
15745446-T-C	13633566-T-C	FT80854		Y	Y		+
17220817-A-C	15108937-A-C			Y			+
18611732-C-T	16499852-C-T	FT24339		Y	Y		+
19375009-C-T	17263129-C-T			Y	Y		+
20819135-G-A	18657249-G-A		P4_Gap				+
21752036-G-A	19590150-G-A			Y	Y		+
21989217-G-T	19827331-G-T			Y	Y		+
22130676-A-G	19968790-A-G			Y	Y		+
22233617-A-T	20071731-A-T		DYZ19				+
22473130-G-A	20311244-G-A	BY51795	DYZ19				+
22800791-A-C	20638905-A-C	FT81015		Y			+
23293557-A-AGTGT	21131671-A-AGTGT					21×GT	+
24371061-C-T	22224914-C-T						+
24872746-A-G	22726599-A-G		IR1_R				+
28670638-T-G	26524491-T-G						+
58980937-C-CATTCCATTCCACTCCACTCCATTCA	56834790-C-CATTCCATTCCACTCCACTCCATTCA						*
15306803-TA-T	13194905-TA-T					9×A	*
3889019-C-CT	4020978-C-CT					15×T	*
3572950-A-G	3704909-A-G						*
59025533-A-G	56879386-A-G						*
16768619-G-T	14656739-G-T	A16892		Y	Y		*
7310571-C-CT	7442530-C-CT					21×T	*
15753178-C-CTT	13641298-C-CTT					20×T	*
18423888-A-C	16312008-A-C		P6_Gap				*
15566817-GAAAA-G	13454937-GAAAA-G					22×A	*
	56830319-A-ATTCCACTCCATTCCT						*
14977296-C-CTT	12865371-C-CTT					15×T	*
19130738-C-CT	17018858-C-CT					33×T	*
20104244-A-AG	17992364-A-AG		P5_Dst			13×G	*
7150391-CA-C	7282350-CA-C					10×A	*
6874882-CA-C	7006841-CA-C					9×A	*
3543562-AT-A	3675521-AT-A					8×T	*
20333835-C-CAA	18171949-C-CAA		P5_Dst			24×A	*
15424272-C-CAA	13312392-C-CAA					11×A	*
17926565-G-T	15814685-G-T			Y	Y		*
2888705-CAA-C,CAAA	3020664-CAA-C,CAAA					16×A	*
15899064-T-TA	13787184-T-TA					11×A	*
	10759307-C-A						*
	10658342-C-G						*
21730548-ATT-A,AT	19568662-ATT-A,AT					23×T	*
23189865-GA-G,GAA	21027979-GA-G,GAA					13×A	*
21966545-A-T	19804659-A-T			Y			*
19528524-C-CAA	17416644-C-CAA					18×A	*
4370626-CACACACAG-C	4502585-CACACACAG-C						*
16297362-C-A	14185482-C-A			Y	Y		*
13489850-C-A	11334174-C-A						*
16045135-T-TTC	13933255-T-TTC					9×TC	*
13463173-A-T	11307497-A-T						*
17923876-GTTTT-G,GTTT	15811996-GTTTT-G,GTTT					18×T	*
13470433-C-T	11314757-C-T						*
17192867-TG-T,TGG	15080987-TG-T,TGG					12×G	*
7567753-CTT-C,CTTT	7699712-CTT-C,CTTT					25×T	*
13689346-G-T	11533670-G-T						*
6359640-TAAAA-T,TAAA	6491599-TAAAA-T,TAAA					22×A	*
21732690-A-AT	19570804-A-AT					8×T	*
	11006084-CTCCAT-C						*
14392735-CTT-C,CTTT	12272031-CTT-C,CTTT					17×T	*
21698309-TAAAA-T	19536423-TAAAA-T					24×A	*
21680399-G-GA	19518513-G-GA					8×A	*
22202913-TTTA-T	20041027-TTTA-T					5×TTA	*
8568465-G-GTT	8700424-G-GTT					22×T	*
24447011-A-G	22300864-A-G				Y		*
23352313-G-A	21190427-G-A			Y	Y		*
17419435-C-A	15307555-C-A			Y	Y		*
15475486-G-GA	13363606-G-GA					9×A	*
16271807-GA-G,GAA	14159927-GA-G,GAA					19×A	*
17203327-CTT-C,CT	15091447-CTT-C,CT					21×T	*
24472421-GTT-G,GTTT	22326274-GTT-G,GTTT					25×T	*
13690085-G-A	11534409-G-A						*
23194817-CT-C,CTT	21032931-CT-C,CTT					24×T	*
	56858289-G-A						*
3501955-CAAAAA-C,CAAAA	3633914-CAAAAA-C,CAAAA					22×A	*
7131386-AC-A,ACC	7263345-AC-A,ACC					14×C	*
21454204-CA-C,CAA	19292318-CA-C,CAA					18×A	*
23098816-CAAAAAAAA-C,CAAA	20936930-CAAAAAAAA-C,CAAA					25×A	*
13450411-CTCCATTCCATTCCATTCTATTCCAT-C	11294735-CTCCATTCCATTCCATTCTATTCCAT-C						*
22127975-CTTTT-C,CTTT	19966089-CTTTT-C,CTTT					20×T	*
4022110-G-A	4154069-G-A						*
15940306-CAA-C,CA	13828426-CAA-C,CA					24×A	*
7524670-C-A	7656629-C-A			Y	Y		*
3752439-T-A	3884398-T-A						*
3752442-T-A	3884401-T-A						*
14071354-CTTTTTTT-C,CTTTTTT	11950648-CTTTTTTT-C,CTTTTTT					25×T	*
7100954-CTT-C,CTTT	7232913-CTT-C,CTTT					32×T	*
13944051-CAA-C,CAAA	11823345-CAA-C,CAAA					22×A	*
6521551-GTTTT-G	6653510-GTTTT-G					17×T	*
15179010-CAAA-C,CAA	13067096-CAAA-C,CAA					25×A	*
	10632799-TC-T,T						*
	10632802-ATTCCATTCCACTCCAT-A,A						*
4559543-T-G	4691502-T-G						*
13449956-C-CCTCCTCCGTT	11294280-C-CCTCCTCCGTT						*
5400457-G-T	5532416-G-T						*
3596555-AT-A	3728514-AT-A					9×T	*
13450438-C-G	11294762-C-G						*
	56834056-C-G						*
	10632823-ATTCCATTCCTTTTCTTCGACAGGATCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACATTTCATTTCACCATTCC-A,A						*
	56826866-CCATTCCATTCGAGACTGTACTATTACACTCCATTCGATTCCATTCCATTCGATTA-						*
23017880-A-G	20855994-A-G	FT124386		Y			*
23017896-C-T	20856010-C-T			Y			*
15077879-TTA-T	12965969-TTA-T						*
5945467-CTT-C,CTTT	6077426-CTT-C,CTTT					25×T	*
8888375-CT-C,C	9020334-CT-C,C					25×T	*
5636420-A-C	5768379-A-C						*
2668272-T-C	2800231-T-C			Y	Y		*
	3965718-TAGATAG-						*
3912233-CTT-C	4044192-CTT-C					14×T	*
3928289-C-T	4060248-C-T						*
4022795-A-G	4154754-A-G						*
4049365-G-T	4181324-G-T						*
4109232-T-C	4241191-T-C						*
4207957-CAAAA-C,CAAA	4339916-CAAAA-C,CAAA					22×A	*
4539216-A-G	4671175-A-G						*
4601954-A-AT	4733913-A-AT					9×T	*
4651422-GA-G,G	4783381-GA-G,G					11×A	*
	4926816-T-						*
4976787-CA-C,CAA	5108746-CA-C,CAA					21×A	*
5204648-A-G	5336607-A-G						*
5344789-T-C	5476748-T-C						*
5350037-CTTT-C,CTTTT	5481996-CTTT-C,CTTTT					21×T	*
5869983-T-C	6001942-T-C						*
6358609-C-A	6490568-C-A						*
6395529-A-T	6527488-A-T						*
7783780-GAAA-G	7915739-GAAA-G					12×A	*
8272134-AT-A,A	8404093-AT-A,A					10×T	*
8774816-C-A	8906775-C-A			Y	Y		*
	9120866-A-C						*
9139590-T-C	9301981-T-C				Y		*
9172470-C-T	9334861-C-T	BY78815		Y			*
9329136-A-G	9491527-A-G			Y			*
9380517-G-GTT	9542908-G-GTT					10×T	*
9577067-G-A	9739458-G-A		IR3_Prx				*
9786754-G-A	9949145-G-A			Y			*
10020101-G-A	10182492-G-A			Y			*
	10685784-C-CTCCATTCCATTCCAT						*
	10935579-C-CTCCATTCCATTCCAT,CTCCATTCCATTCCAT						*
	10950152-A-G						*
13322324-T-C	11166648-T-C						*
13323494-CAAAAA-C,CAAA	11167818-CAAAAA-C,CAAA					24×A	*
13358012-CT-C	11202336-CT-C						*
13362843-T-A	11207167-T-A						*
13362848-C-A	11207172-C-A						*
13463072-CGGCG-C	11307396-CGGCG-C						*
13514188-C-A	11358512-C-A						*
13616841-T-G	11461165-T-G						*
13690070-G-A	11534394-G-A						*
13886887-G-T	11766181-G-T			Y			*
14331131-CT-C,CTTTTTTTT	12210425-CT-C,CTTTTTTTT					25×T	*
14517390-T-C	12405591-T-C			Y			*
	12555882-CAAAA-C,CAAA					24×A	*
14768588-G-A	12656657-G-A			Y	Y		*
14783421-C-T	12671491-C-T			Y	Y		*
14823487-T-C	12711554-T-C			Y	Y		*
	13143855-G-GGTGT,GGTGTGT					23×GT	*
	13246880-GAAAA-G,GAAAAA					27×A	*
15852587-T-C	13740707-T-C			Y	Y		*
15866268-CAAAAAAAAAAAAAAAAAA-C,CAA	13754388-CAAAAAAAAAAAAAAAAAA-C,CAA					43×A	*
16484096-AT-A,A	14372216-AT-A,A					12×T	*
16692775-A-G	14580895-A-G			Y	Y		*
16991073-GT-G,G	14879193-GT-G,G					13×T	*
17231955-A-AT	15120075-A-AT						*
17264628-T-C	15152748-T-C			Y	Y		*
17545075-GA-G	15433195-GA-G						*
17592345-CTT-C,CTTTT	15480465-CTT-C,CTTTT					24×T	*
17703255-A-AAAG,AAG	15591375-A-AAAG,AAG					6×AAAG	*
18414381-AGAAG-A,A	16302501-AGAAG-A,A		P6_Gap			15×GAAG	*
18615932-CTT-C,CTTTT	16504052-CTT-C,CTTTT					27×T	*
18760242-TTCTCTCTCTCTC-T,T	16648362-TTCTCTCTCTCTC-T,T					27×TC	*
18799475-A-T	16687595-A-T			Y			*
18994849-AGAAG-A,A	16882969-AGAAG-A,A					6×GAAG	*
	16947868-T-						*
19223248-T-C	17111368-T-C			Y	Y		*
19226188-AATAG-A,A	17114308-AATAG-A,A					14×ATAG	*
21204109-C-T	19042223-C-T			Y	Y		*
21371255-T-TA	19209369-T-TA						*
21907529-G-GT,GTT	19745643-G-GT,GTT					9×T	*
22085854-T-C	19923968-T-C	FTB49503		Y	Y		*
22513499-CT-C	20351613-CT-C						*
22536031-G-A	20374145-G-A			Y			*
22577951-GA-G,GAA	20416065-GA-G,GAA					24×A	*
22802900-TGCTGG-T	20641014-TGCTGG-T						*
22802905-G-GTTTTTTTT	20641019-G-GTTTTTTTT						*
22855794-A-G	20693908-A-G			Y			*
22868285-TAA-T,TA	20706399-TAA-T,TA					27×A	*
23017871-C-A	20855985-C-A			Y			*
23579994-T-C	21418108-T-C			Y	Y		*
23781721-C-T	21619835-C-T				Y		*
23855114-TA-T	21693228-TA-T					9×A	*
24072046-T-C	21925899-T-C		P3_b1				*
24205523-C-T	22059376-C-T		P3_b1				*
24480177-A-C	22334030-A-C				Y		*
26498627-A-G	24352480-A-G		P1_Y1				*
27637198-TCA-ACA,T	25491051-TCA-ACA,T		P1_Y2			17×CA	*
28458302-A-T	26312155-A-T						*
28545880-CAA-C,CA	26399733-CAA-C,CA					20×A	*
28564248-T-A	26418101-T-A						*
28735626-CT-C,C	26589479-CT-C,C					12×T	*
28805754-A-G	26659607-A-G						*
28815995-G-A	26669848-G-A						*
28816919-A-T	26670772-A-T						*
28818898-G-T	26672751-G-T						*
28818900-A-G	26672753-A-G						*
28818909-A-C	26672762-A-C						*
	56832357-C-CCACTCCTTTCCATTCCACTCCTTTCAACTCCACTCCCCTCCAA						*
	56851120-CCCAGGTGATGTAACTGTTGTATAAG-C						*
	56873364-A-AACAC,AACACAC					20×AC	*

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.

McBryde

Tree Position

Unique Mutations