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 136884	FTDNA 136884
14379602-C-G	12258898-C-G			Y	Y		A*
13478653-G-A	11322977-G-A	BY43119					A*
19746847-C-T	17634967-C-T		P5_Prx				A*	***
23720827-G-A	21558941-G-A						A*	***
25858119-T-A	23711972-T-A		P1_Y1				A*	***
13478672-C-T	11322996-C-T						A*
20602563-A-T	18440677-A-T		P5_Dst				A*
20602570-G-T	18440684-G-T		P5_Dst				A*
	56836776-C-T						A*
4605894-A-G	4737853-A-G						A*
13687572-G-C	11531896-G-C						A*
19780608-C-G	17668728-C-G		P5_Prx				A*
19949909-G-C	17838029-G-C		P5_Prx				A*
7101916-C-T	7233875-C-T	FGC29065		Y			+	**
23138109-C-G	20976223-C-G	FT84130		Y	Y		+
6314165-GTCC-G	6446124-GTCC-G		IR3_Dst				+	+
6314171-GT-G	6446130-GT-G		IR3_Dst				+	**
6314175-T-A	6446134-T-A	BY59607	IR3_Dst				+	**
6314176-T-A	6446135-T-A	BY59608	IR3_Dst				+	**
6314179-C-A	6446138-C-A	BY59609	IR3_Dst				+	**
7852194-T-C	7984153-T-C	BY68228		Y	Y		+	+
7953093-T-G	8085052-T-G	BY69029		Y	Y		+	+
8194615-A-G	8326574-A-G	BY70609		Y	Y		+	+
8366013-T-C	8497972-T-C	BY72037		Y	Y		+	+
13813808-A-G	11693102-A-G	BY90345					+	+
14106267-T-C	11985561-T-C	BY93078		Y	Y		+	+
14127127-C-T	12006421-C-T	BY93208		Y	Y		+	+
14547701-A-G	12435902-A-G	BY96431		Y	Y		+	+
15477562-T-C	13365682-T-C	BY101839		Y	Y		+	+
16032761-G-C	13920881-G-C	BY105487		Y	Y		+	+
16192395-G-A	14080515-G-A	BY105877		Y	Y		+	+
16237854-G-C	14125974-G-C	BY106234		Y	Y		+	+
17137852-G-T	15025972-G-T	BY112579		Y	Y		+	+
17263561-C-T	15151681-C-T	BY113342		Y	Y		+	+
17331342-C-A	15219462-C-A	BY113895		Y	Y		+	+
17566322-G-C	15454442-G-C	BY115769		Y	Y		+	+
18030554-A-C	15918674-A-C	BY119280		Y			+	+
20736137-C-T	18574251-C-T	BY212331	P4_Prx				+	+
21305212-A-G	19143326-A-G	BY131918		Y	Y		+	+
22270916-A-T	20109030-A-T	FT454215	DYZ19				+	+
22459850-A-T	20297964-A-T	FT457581	DYZ19				+	+
23146455-G-C	20984569-G-C	BY143341		Y	Y		+	+
23870664-C-A	21708778-C-A	BY148635			Y		+	+
27435596-CAT-C	25289449-CAT-C		P1_Y2					+
28785113-G-A	26638966-G-A	BY151237					+	+
14073653-T-TTAAATAAA	11952947-T-TTAAATAAA					9×TAAA		+
7374879-C-A	7506838-C-A	FT83401		Y	Y		+
13195835-ACATTGCATTC-A	11040159-ACATTGCATTC-A						+
	10748161-C-T	FT91606					+
17315342-A-G	15203462-A-G	FT83836		Y	Y		+
3570404-A-G	3702363-A-G	FT82528					+
5101702-A-G	5233661-A-G	FT82995					+
5631733-A-C	5763692-A-C	FT83125					+
5823729-C-A	5955688-C-A	FT83188					+
16572888-C-G	14461008-C-G	FT83785		Y	Y		+
17317915-C-G	15206035-C-G	FT83838		Y			+
21100924-G-A	18939038-G-A	FT83989		Y	Y		+
5142899-GAAGAT-G	5274858-GAAGAT-G						*
9418243-T-TTGTG	9580634-T-TTGTG					17×TG	*
3854572-T-C	3986531-T-C						*
22345283-T-G	20183397-T-G		DYZ19				*
14575101-T-C	12463301-T-C	CTS2937						**
3562978-C-T	3694937-C-T	F15054					**
16429120-G-A	14317240-G-A	Z2514 CTS5683 AM00204 AMM113						**
20213174-TCTTCTC-T	18051288-TCTTCTC-T		P5_Dst			6×CTTCTC	**
13597649-G-A	11441973-G-A						**	**
9636059-T-TC	9798450-T-TC		IR3_Prx				**
5242536-C-A	5374495-C-A						**
9990458-T-C	10152849-T-C						**
9990474-C-T	10152865-C-T						**
9990475-C-G	10152866-C-G						**
9990477-A-G	10152868-A-G						**
9990478-T-C	10152869-T-C						**
22507726-G-T	20345840-G-T		DYZ19				**
4572057-A-G	4704016-A-G						**
2669104-A-G	2801063-A-G						**
2669109-C-T	2801068-C-T						**
2796350-G-T	2928309-G-T						**
3634096-GAACA-G	3766055-GAACA-G						**
4287177-A-T	4419136-A-T						**
4849715-A-G	4981674-A-G						**
5883023-A-G	6014982-A-G						**
5937315-C-CTAAGAT	6069274-C-CTAAGAT						**
9412384-G-T	9574775-G-T						**
9564513-G-GTA	9726904-G-GTA		IR3_Prx				**
9990545-TC-T	10152936-TC-T						**
13411743-T-C	11256067-T-C						**
13502415-T-G	11346739-T-G						**
17226162-G-A	15114282-G-A						**
18057145-C-T	15945265-C-T						**
19048066-T-C	16936186-T-C						**
20724461-A-G	18562575-A-G		P4_Prx				**
21032995-TA-T	18871109-TA-T						**
21851523-A-G	19689637-A-G						**
21886796-CA-C	19724910-CA-C						**
22537494-G-C	20375608-G-C						**
22988256-T-G	20826370-T-G						**
24530880-A-G	22384733-A-G		P3_t2				**
22366307-G-C	20204421-G-C		DYZ19					***
22359557-G-C	20197671-G-C		DYZ19					***
17936932-CAA-C	15825052-CAA-C					14×A	***
14102359-T-TTCTATCTATCTA	11981653-T-TTCTATCTATCTA					9×TCTA	***
21625934-C-CA	19464048-C-CA					10×A	***
13691738-AAAACGAATGGAATGG-A	11536062-AAAACGAATGGAATGG-A							***
22262425-G-T	20100539-G-T		DYZ19					***
22293105-G-T	20131219-G-T		DYZ19					***
24218327-T-G	22072180-T-G		P3_b1					***
25041748-G-A	22895601-G-A		g1					***
18858611-GA-G,GAA	16746731-GA-G,GAA					14×A	***
15947951-CTTT-C,CTT	13836071-CTTT-C,CTT					19×T	***
13296184-GT-G,GTT	11140508-GT-G,GTT					14×T	***
16297330-G-GTT	14185450-G-GTT					26×T	***
13453465-A-T	11297789-A-T						***
19257087-C-A	17145207-C-A						***
14784701-CT-C,CTT	12672771-CT-C,CTT					22×T	***
15763068-A-G	13651188-A-G	FT23840					***
21617605-CAAAAAAA-C	19455719-CAAAAAAA-C					23×A	***
28468253-CTT-C	26322106-CTT-C					13×T	***
	10868975-T-C						***
7162654-TA-T	7294613-TA-T					10×A	***
2686435-CA-C,CAA	2818394-CA-C,CAA					13×A	***
15991806-GTTTT-G	13879926-GTTTT-G					24×T	***
13456044-C-CGGATG	11300368-C-CGGATG						***
16531083-CAAAAA-C	14419203-CAAAAA-C					24×A	***
13453488-C-CTTGTTGAATT	11297812-C-CTTGTTGAATT						***
13482119-G-T	11326443-G-T						***
3205858-CAAAA-C	3337817-CAAAA-C					15×A	***
13485733-G-T	11330057-G-T						***
13456019-G-A	11300343-G-A					11×ATTCC	***
6776497-CAAAAAA-C	6908456-CAAAAAA-C					28×A	***
15753178-CTTT-C,CTT	13641298-CTTT-C,CTT					20×T	***
4049372-T-TAA	4181331-T-TAA					16×A	***
2741101-C-CTT	2873060-C-CTT					19×T	***
13455586-T-A	11299910-T-A						***
10050417-A-T	10212808-A-T						***
21086136-TAA-T,TA	18924250-TAA-T,TA					24×A	***
28792347-A-G	26646200-A-G						***
21523762-CA-C,CAA	19361876-CA-C,CAA					15×A	***
7160894-CT-C,CTT	7292853-CT-C,CTT					16×T	***
13452385-TCCATTCCATTCAAATACACTCCTTG-T,TCCATTCCAGTCAAATCCACTCCATG	11296709-TCCATTCCATTCAAATACACTCCTTG-T,TCCATTCCAGTCAAATCCACTCCATG						***
3307903-A-G	3439862-A-G						***
3452215-G-C	3584174-G-C						***
5062473-CAA-C,CA	5194432-CAA-C,CA					21×A	***
5211695-G-C	5343654-G-C						***
5780585-T-A	5912544-T-A						***
5943992-G-T	6075951-G-T						***
5986594-AG-A	6118553-AG-A						***
7022041-C-A	7154000-C-A						***
7392227-TGC-T	7524186-TGC-T						***
	10912416-T-C						***
13482092-A-T	11326416-A-T						***
13808702-A-C	11687996-A-C						***
14680960-C-CAAA	12569026-C-CAAA					11×A	***
14911668-C-G	12799735-C-G						***
15140774-A-G	13028861-A-G						***
15140797-ATTC-A	13028884-ATTC-A						***
16427526-A-G	14315646-A-G						***
16544592-GGGAGGGAGGGAA-G,GGGAGGGAGGGAG	14432712-GGGAGGGAGGGAA-G,GGGAGGGAGGGAG						***
18057129-A-C	15945249-A-C						***
18423887-CA-C,CAA	16312007-CA-C,CAA		P6_Gap			15×A	***
21055131-G-A	18893245-G-A						***
21055134-T-C	18893248-T-C						***
21960330-A-G	19798444-A-G						***
23389526-T-A	21227640-T-A						***
24206010-T-C	22059863-T-C		P3_b1				***
28486104-T-C	26339957-T-C						***
28495936-A-G	26349789-A-G						***
28596698-GTTTTTT-G,GTTTTTTTT	26450551-GTTTTTT-G,GTTTTTTTT					24×T	***
28610815-CT-C	26464668-CT-C					10×T	***
	56871631-AAT-A,AATAT					10×AT	***

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.

Danders

Tree Position

Unique Mutations