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 HG01079
58837247-T-C	56753624-A-G							+
16300321-G-T	14188441-G-T				Y	Y		+
28796517-T-G	26650370-T-G							+
23563321-TAC-T	21401435-TAC-T						9×AC	+
58862300-G-A	56728571-C-T							+
17683950-C-T	15572070-C-T		CTS7817 M4248		Y			+
14172758-T-C	12052052-T-C				Y	Y		+
58825021-C-A	56765850-G-T							+
9195435-G-T	9357826-G-T				Y			+
19257945-C-A	17146065-C-A		BZ1576		Y	Y		+
15324344-TG-T	13212462-TG-T							+
13302042-C-T	11146366-C-T							+
17676029-C-T	15564149-C-T				Y	Y	15×T	+
25200915-G-A	23054768-G-A			g1			4×AGAA	+
28790987-C-T	26644840-C-T							+
15522280-T-TA	13410400-T-TA						8×A	+
58864217-T-C	56726654-A-G							+
13323478-T-A	11167802-T-A							+
58861966-A-C	56728905-T-G							+
58916669-G-T	56674202-C-A							+
28818194-G-GTGGAA	26672047-G-GTGGAA						5×TGGAA	+
58864177-T-C	56726694-A-G							+
58864194-C-A	56726677-G-T							+
28797882-G-T	26651735-G-T							+
8964955-N-G	9096914-N-G							+
8660569-G-A	8792528-G-A				Y			+
22339013-A-C	20177127-A-C			DYZ19				+
22294838-A-G	20132952-A-G			DYZ19				+
18271891-C-A	16160011-C-A			P6_Prx				+
4270959-AAGATAGATAGAT-A	4402918-AAGATAGATAGAT-A						15×AGAT	+
22294800-G-C	20132914-G-C			DYZ19				+
58891119-T-A	56699752-A-T							+
22300858-G-A	20138972-G-A			DYZ19				+
22300856-A-T	20138970-A-T			DYZ19				+
58843332-C-G	56747539-G-C							+
2940096-G-A	3072055-G-A							+
26400702-C-T	24254555-C-T			P1_Y1				+
6648613-C-T	6780572-C-T				Y	Y	27×T	+
13254529-C-A	11098853-C-A							+
15260684-C-CTTTTTT	13148768-C-CTTTTTT						25×T	+
15799114-CCCTT-TCCTC	13687234-CCCTT-TCCTC						14×CCTT	+
17694609-G-A	15582729-G-A				Y	Y	14×A	+
14358411-AA-GG	12237706-AA-GG							+
2658789-T-A	2790748-T-A				Y	Y	13×A	+
9040197-G-A	9202588-G-A		Z17893			Y		+
6859969-C-G	6991928-C-G		FT294695		Y	Y		+
7000000-C-T	7131959-C-T		FT294729		Y			+
7080256-C-G	7212215-C-G		Y16008		Y	Y		+
7748802-G-C	7880761-G-C		FT295014		Y	Y		+
7901842-T-C	8033801-T-C				Y	Y		+
8054610-C-G	8186569-C-G		FT295152		Y	Y		+
8484093-G-A	8616052-G-A		FGC37159		Y	Y		+
14306431-A-G	12185725-A-G				Y			+
14786619-G-A	12674689-G-A		Y16067		Y	Y		+
15132065-A-T	13020152-A-T				Y	Y	14×T	+
16374062-A-C	14262182-A-C		FT296833		Y	Y		+
16687612-G-A	14575732-G-A		CTS6129 S3669		Y			+
16897755-T-C	14785875-T-C		CTS6443 S3674		Y	Y		+
17797266-T-C	15685386-T-C		CTS8018		Y			+
17962728-C-T	15850848-C-T		FGC69619		Y	Y		+
18069759-A-C	15957879-A-C		FT297551		Y	Y		+
18117638-A-C	16005758-A-C		CTS8628 S3672		Y	Y		+
18813798-A-G	16701918-A-G		CTS9303 S3677		Y	Y		+
21310296-G-A	19148410-G-A		FT298356		Y	Y		+
22981690-A-C	20819804-A-C		FT299149		Y			+
23326304-C-T	21164418-C-T		CTS11871 S3673		Y	Y		+
23495623-C-T	21333737-C-T				Y	Y		+
23516997-G-A	21355111-G-A		FT299378		Y			+
28751805-C-T	26605658-C-T							+
13258549-T-C	11102873-T-C							+
13268891-CTT-C	11113215-CTT-C						11×T	+
13864564-CGGAATGGAAT-C	11743858-CGGAATGGAAT-C						12×GGAAT	+
13255204-G-A	11099528-G-A							+
13255216-C-T	11099540-C-T							+
58839518-G-T	56751353-C-A							+
58896343-T-C	56694528-A-G							+
58896303-T-C	56694568-A-G							+
58896320-C-A	56694551-G-T							+
13747513-A-T	11591837-A-T							+
13441590-T-A	11285914-T-A		Z11552					+
13441588-A-T	11285912-A-T							+
28802693-G-C	26656546-G-C							+
13273994-C-T	11118318-C-T							+
7601009-ATGT-A	7732968-ATGT-A							+
13694756-G-GGAACT	11539080-G-GGAACT							+
24425337-A-ATGCG	22279190-A-ATGCG							+
24425339-G-GCATT	22279192-G-GCATT							+
58977552-ATTCTG-A	56831405-ATTCTG-A							+
13194516-ATTCC-A	11038840-ATTCC-A							+
13139025-CCACT-C	10628511-CCACT-C							+
22011557-C-CAA	19849671-C-CAA						21×A	+
3196582-C-A	3328541-C-A		FT316393					+
28790967-T-A	26644820-T-A							+
7241839-C-G	7373798-C-G				Y			+
16290527-C-A	14178647-C-A		S18097		Y	Y		+
13302961-GCAAAAAAAA-G	11147285-GCAAAAAAAA-G							+
14399072-T-TG	12278368-T-TG							+
3111100-G-A	3243059-G-A		S3383					+
3229565-GTT-G	3361524-GTT-G							+
3247284-C-T	3379243-C-T							+
3253419-A-G	3385378-A-G							+
3508914-A-G	3640873-A-G							+
3518435-C-T	3650394-C-T	FT141527	FT141568					+
3759084-G-T	3891043-G-T							+
3845140-T-TGC	3977099-T-TGC						11×G	+
4030299-G-A	4162258-G-A							+
4072708-T-C	4204667-T-C		Z479					+
4216951-A-C	4348910-A-C		FGC24521					+
4269147-C-T	4401106-C-T							+
4342013-G-T	4473972-G-T							+
4466549-A-C	4598508-A-C							+
4491222-C-A	4623181-C-A							+
4491242-C-A	4623201-C-A							+
4529168-C-A	4661127-C-A							+
4779273-C-A	4911232-C-A							+
4779974-C-T	4911933-C-T							+
4800722-G-T	4932681-G-T		FT321763					+
5012485-G-A	5144444-G-A		FT322422					+
5168673-T-C	5300632-T-C							+
5178061-GCA-G	5310020-GCA-G							+
5253156-G-T	5385115-G-T							+
5253238-A-G	5385197-A-G							+
5305681-A-C	5437640-A-C		FT323475					+
5353441-G-A	5485400-G-A		FT323628					+
5507709-T-G	5639668-T-G							+
5508057-A-T	5640016-A-T							+
5846180-G-GAAAA	5978139-G-GAAAA						39×A	+
6003909-A-C	6135868-A-C							+
6566077-C-T	6698036-C-T							+
6597368-A-AC	6729327-A-AC							+
6597965-A-G	6729924-A-G							+
6616381-G-A	6748340-G-A		FT326998					+
6630511-TC-T	6762470-TC-T							+
6909168-C-A	7041127-C-A		M8148		Y	Y		+
7197567-TGTA-T	7329526-TGTA-T							+
7601007-G-GA	7732966-G-GA							+
7688651-A-C	7820610-A-C				Y	Y		+
8125062-GAGAGAAGAGA-G	8257021-GAGAGAAGAGA-G						12×AGAGA	+
8367622-CA-C	8499581-CA-C							+
8407600-C-CT	8539559-C-CT							+
8566852-T-TG	8698811-T-TG							+
8725796-CAA-C	8857755-CAA-C							+
9157091-C-T	9319482-C-T		FT295708					+
9429496-AAAG-A	9591887-AAAG-A							+
9854215-TTG-T	10016606-TTG-T							+
9958668-G-A	10121059-G-A	BY18201	FGC17916		Y			+
10020656-C-T	10183047-C-T				Y			+
10077334-T-C	10239725-T-C							+
13206783-T-TAA	11051107-T-TAA							+
13206798-A-AAG	11051122-A-AAG							+
13242795-C-G	11087119-C-G							+
13255975-A-G	11100299-A-G							+
13259580-G-A	11103904-G-A							+
13259643-T-C	11103967-T-C							+
13271784-AAAAC-A	11116108-AAAAC-A							+
13279495-C-G	11123819-C-G							+
13287415-C-G	11131739-C-G							+
13290548-C-T	11134872-C-T							+
13311989-G-A	11156313-G-A							+
13351208-T-A	11195532-T-A							+
13398996-T-C	11243320-T-C							+
13399359-C-T	11243683-C-T							+
13402099-T-G	11246423-T-G							+
13435909-A-G	11280233-A-G							+
13451162-CTATTCCACTG-C	11295486-CTATTCCACTG-C							+
13451550-A-ACTGCC	11295874-A-ACTGCC							+
13452069-A-ACTCCACTCCC	11296393-A-ACTCCACTCCC							+
13457955-C-G	11302279-C-G							+
13478556-T-G	11322880-T-G							+
13503307-AGAAGTAG-A	11347631-AGAAGTAG-A							+
13506676-T-TAA	11351000-T-TAA							+
13518961-G-A	11363285-G-A							+
13519382-A-C	11363706-A-C							+
13572807-G-A	11417131-G-A							+
13611988-G-T	11456312-G-T						19×T	+
13640567-A-T	11484891-A-T							+
13640577-A-G	11484901-A-G							+
13647478-C-A	11491802-C-A							+
13649265-A-G	11493589-A-G							+
13805447-G-C	11684741-G-C		BY1025					+
13884598-T-A	11763892-T-A				Y			+
13914244-A-C	11793538-A-C				Y			+
14067329-A-C	11946623-A-C		M3799		Y	Y		+
14286784-C-CTTTTTT	12166078-C-CTTTTTT						22×T	+
14440391-G-A	12319664-G-A		Z25315		Y			+
14790440-G-A	12678511-G-A				Y	Y		+
14875585-TC-T	12763655-TC-T							+
14875592-G-GTT	12763662-G-GTT						28×T	+
15178315-A-C	13066401-A-C				Y			+
15209597-G-T	13097683-G-T		M12329		Y	Y		+
15259276-TC-T	13147360-TC-T							+
15557031-CT-C	13445151-CT-C							+
15683652-AT-A	13571772-AT-A							+
15869829-GGT-G	13757949-GGT-G							+
16277219-A-C	14165339-A-C				Y	Y		+
16463022-G-A	14351142-G-A		CTS5736		Y			+
16602219-G-T	14490339-G-T		M7210		Y	Y		+
16710761-ATG-A	14598881-ATG-A							+
16809410-ATAGAT-A	14697530-ATAGAT-A							+
17074799-G-C	14962919-G-C				Y	Y		+
17274959-TAGAC-T	15163079-TAGAC-T							+
17477483-AG-A	15365603-AG-A							+
17683951-C-G	15572071-C-G		CTS7818 M4085		Y			+
17720084-T-G	15608204-T-G				Y	Y		+
17721031-A-C	15609151-A-C				Y	Y		+
17737786-C-G	15625906-C-G				Y	Y		+
17895823-C-T	15783943-C-T				Y	Y		+
17923789-AGAAG-A	15811909-AGAAG-A							+
18763904-CGT-C	16652024-CGT-C							+
18855776-T-G	16743896-T-G				Y	Y		+
19126461-ATGT-A	17014581-ATGT-A							+
19231319-C-CTTT	17119439-C-CTTT						24×T	+
19409413-AC-A	17297533-AC-A							+
20243597-T-C	18081711-T-C			P5_Dst				+
20659075-A-G	18497189-A-G			P4_Prx				+
21233755-G-C	19071869-G-C				Y	Y		+
21523471-A-C	19361585-A-C				Y			+
21870887-T-G	19709001-T-G				Y	Y		+
21979616-TA-T	19817730-TA-T							+
22009617-G-A	19847731-G-A				Y	Y		+
22269114-T-C	20107228-T-C			DYZ19				+
22269120-G-A	20107234-G-A			DYZ19				+
22294790-G-T	20132904-G-T			DYZ19				+
23106176-A-C	20944290-A-C				Y			+
23161972-T-G	21000086-T-G				Y			+
23321854-T-G	21159968-T-G		M4934		Y	Y		+
24413807-TTC-T	22267660-TTC-T							+
24470935-A-C	22324788-A-C					Y		+
28571219-T-G	26425072-T-G							+
28780461-G-A	26634314-G-A							+
28818222-G-GAATGT	26672075-G-GAATGT							+
58861967-T-A	56728904-A-T							+
59019548-ACACAAG-A	56873401-ACACAAG-A							+
59021932-T-TTTC	56875785-T-TTTC							+

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.

Mutation Notes:

Kit	POSITION-REF-ALT (hg19)	POSITION-REF-ALT (hg38)	Note
HG01079	22229264-C-A	20067378-C-A	Checked BAM File.
Manual	19216573-A-AAAAAC	17104693-A-AAAAAC	3 reads cover the area and all show the insertion.
Manual	15133462-C-T	13021549-C-T	Just one read, but it does have the mutation.
Manual	17032350-A-G	14920470-A-G	1 good read, 1 poor read, but both G.
Manual	18835438-A-G	16723558-A-G	2 reads, both G.
Manual	22445412-G-C	20283526-G-C	10 reads, all C.
Manual	23459153-ATATTTT-A	21297267-ATATTTT-A	2 reads, both show the deletion.

1k Genomes

Tree Position

Unique Mutations

Mutation Notes: