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	BigY3 B200842
22242158-G-A	20080272-G-A			DYZ19				A+
20774922-G-GA	18613036-G-GA			P4_Prx			22×A	A*
58980455-T-C	56834308-T-C							A*
28817453-C-T	26671306-C-T							A*
20917254-C-CA	18755368-C-CA			P4_Dst			14×A	A*
20247747-C-CA	18085861-C-CA			P5_Dst			10×A	A*
	10794243-C-T							A*
13487822-A-G	11332146-A-G							A*
	10767801-A-C							A*
	10767797-C-T							A*
	10767800-A-C							A*
	10767803-T-C							A*
	56831622-T-C							A*
	56833517-A-T							A*
22314207-G-T	20152321-G-T			DYZ19				A*
	56834147-C-T							A*
	56832598-C-T							A*
6228574-T-A	6360533-T-A			IR3_Dst				A*
19655203-A-G	17543323-A-G			P5_Prx				A*
19772026-C-T	17660146-C-T			P5_Prx				A*
25965031-A-T	23818884-A-T		BY209173	P1_Y1				A*
26045486-A-C	23899339-A-C			P1_Y1				A*
26089227-T-TAAGAA	23943080-T-TAAGAA			P1_Y1				A*
26418245-A-G	24272098-A-G			P1_Y1				A*
26519786-G-A	24373639-G-A			P1_Y1				A*
28817227-A-T	26671080-A-T							A*
14852779-T-A	12740845-T-A		BY11189		Y	Y		+
7850298-A-C	7982257-A-C	BY19950	S10738		Y	Y		+
18096080-G-A	15984200-G-A		Z16472		Y	Y		+
21219817-C-A	19057931-C-A		BY208161		Y	Y		+
26334826-C-T	24188679-C-T		FGC52814	P1_Y1				+
2695769-A-G	2827728-A-G				Y	Y		+
2732839-T-C	2864798-T-C		FT60489		Y	Y		+
2862761-G-T	2994720-G-T		FT60497		Y	Y		+
3636759-C-G	3768718-C-G		FT15507					+
4173678-C-T	4305637-C-T		FT16159					+
4191567-C-G	4323526-C-G		FT27921					+
4193513-C-T	4325472-C-T		FT16187					+
4661189-G-T	4793148-G-T		FT16722					+
4661190-A-G	4793149-A-G		FT16723					+
4780352-G-A	4912311-G-A		FT60778					+
5431037-T-C	5562996-T-C		FT60863					+
5553618-GTTATC-G	5685577-GTTATC-G							+
5733626-CTTTT-C	5865585-CTTTT-C							+
6141131-G-A	6273090-G-A		BY59231	IR3_Dst				+
6961878-C-T	7093837-C-T		FT61067		Y	Y		+
7083290-G-A	7215249-G-A				Y	Y		+
7193627-G-A	7325586-G-A				Y	Y		+
7417006-G-A	7548965-G-A				Y	Y		+
7880817-C-T	8012776-C-T		FT61156		Y	Y		+
7990064-G-A	8122023-G-A		FT61168		Y	Y		+
8106092-G-A	8238051-G-A				Y	Y		+
8107990-C-T	8239949-C-T				Y	Y		+
8273199-C-T	8405158-C-T		FT61196		Y	Y		+
8358452-G-C	8490411-G-C		FT61203		Y	Y		+
8577771-G-A	8709730-G-A		FGC47254		Y	Y		+
8984459-T-C	9146850-T-C		FT61264					+
9092220-G-A	9254611-G-A		FT61276			Y		+
9898952-G-A	10061343-G-A				Y			+
	10665180-A-G		FT91503					+
	10684555-GTCCATTCCATTCCAT-G							+
	10760500-G-A		FT430005					+
	10892091-C-T		FT435696					+
14096487-C-T	11975781-C-T				Y	Y		+
14124949-G-A	12004243-G-A				Y	Y		+
14917570-G-A	12805637-G-A		BY98474		Y	Y		+
14996318-G-A	12884403-G-A		FT61489		Y	Y		+
15655701-C-G	13543821-C-G		FT61550		Y	Y		+
15822306-A-G	13710426-A-G		FT61586		Y	Y		+
16250153-A-C	14138273-A-C		FT61625		Y	Y		+
16477707-C-T	14365827-C-T				Y	Y		+
17016357-G-A	14904477-G-A				Y	Y		+
17411361-C-T	15299481-C-T		FT61772		Y	Y		+
18018894-C-T	15907014-C-T				Y			+
18673807-G-A	16561927-G-A		FT24380		Y	Y		+
18824929-T-C	16713049-T-C		FT61917		Y	Y		+
19317361-C-T	17205481-C-T		FT61989		Y	Y		+
21130800-G-A	18968914-G-A				Y	Y		+
22172959-G-A	20011073-G-A		FT25945		Y			+
22612192-T-G	20450306-T-G				Y	Y		+
22651746-CTA-C	20489860-CTA-C							+
22990700-G-A	20828814-G-A		FT26314		Y			+
23536183-A-G	21374297-A-G		FT62248		Y	Y		+
23607612-T-G	21445726-T-G				Y	Y		+
28463299-C-A	26317152-C-A							+
28500554-A-G	26354407-A-G		BY150614			Y		+
28609941-A-G	26463794-A-G		FT62308			Y		+
20931853-A-ATG	18769967-A-ATG			P4_Dst			18×TG	*
22316966-T-C	20155080-T-C		Y17629	DYZ19				*
5862541-T-C	5994500-T-C							*
5862555-CAT-C	5994514-CAT-C							*
23966967-T-TTG	21820820-T-TTG						10×TG	*
28807115-C-T	26660968-C-T	FT148754	BY40553					*
4997519-C-CAG	5129478-C-CAG						16×AG	*
17274955-TAGATAGAC-T,TAGATAGAT	15163075-TAGATAGAC-T,TAGATAGAT							*
28800095-T-TGA	26653948-T-TGA							*
14319448-GAT-G	12198742-GAT-G						8×AT	**
8169268-A-AT	8301227-A-AT						10×T	**
14016667-G-A	11895961-G-A		FT12941					**
28620205-A-C	26474058-A-C		Z7975					**
2697794-TA-T	2829753-TA-T						10×A	**
	11022840-AT-A							***
18890882-ATTT-A	16779002-ATTT-A						17×T	**
7201630-C-CT	7333589-C-CT						11×T	**
3240658-ATT-A	3372617-ATT-A						13×T	**
4890660-CAAAA-C	5022619-CAAAA-C						18×A	**
13468648-C-CAGG	11312972-C-CAGG							**
13468650-ACC-A	11312974-ACC-A							**
8172687-CTTTTT-C	8304646-CTTTTT-C						22×T	**
19199320-A-AT	17087440-A-AT						9×T	**
23572484-C-T	21410598-C-T		BY9466				13×GT	**
13468672-A-G	11312996-A-G							**
4151420-T-C	4283379-T-C							**
4188898-A-C	4320857-A-C		FT16178					**
5491261-C-CAA	5623220-C-CAA						18×A	**
6936292-G-T	7068251-G-T							**
7305124-C-A	7437083-C-A							**
8822570-A-G	8954529-A-G							**
9716298-A-G	9878689-A-G			IR3_Prx				**
10079211-T-C	10241602-T-C							**
	10896417-C-T							**
13467348-T-C	11311672-T-C							**
13713650-T-A	11557974-T-A							**
13725144-A-G	11569468-A-G							**
17632788-C-T	15520908-C-T	3243302-C-T						**
18863991-A-G	16752111-A-G							**
19043595-C-A	16931715-C-A							**
19048386-T-G	16936506-T-G							**
19048388-T-G	16936508-T-G		BY125785					**
19128007-G-A	17016127-G-A		FT181690					**
19143253-T-C	17031373-T-C							**
22460843-T-G	20298957-T-G			DYZ19				**
22473666-C-G	20311780-C-G		BY222964	DYZ19				**
27701739-G-A	25555592-G-A			P1_Y2				**
28725510-T-G	26579363-T-G		FT27308					**
13868350-A-G	11747644-A-G							***
13456303-C-G	11300627-C-G							***
13446577-T-C	11290901-T-C							***
13474059-G-A	11318383-G-A							***
19206934-T-TTA	17095054-T-TTA						10×TA	***
13488831-C-T	11333155-C-T							***
18672379-TTTTA-T	16560499-TTTTA-T						8×TTTA	***
18804474-AAGAGAGAGAG-A	16692594-AAGAGAGAGAG-A						26×AG	***
21343193-T-TG	19181307-T-TG						10×G	***
3301243-TTA-T	3433202-TTA-T						8×TA	***
5862533-T-G	5994492-T-G							***
21068499-AAC-A	18906613-AAC-A							***
21477223-CTTA-C	19315337-CTTA-C							***
58974788-G-A	56828641-G-A							***
59017779-AT-A	56871632-AT-A							***
13349048-C-T	11193372-C-T		FGC16807					***
14392761-GTC-G	12272057-GTC-G							***
19138271-CAT-C	17026391-CAT-C							***
6493953-C-CA	6625912-C-CA						19×A	***
16494317-A-AAT	14382437-A-AAT						11×AT	***
13470627-C-G	11314951-C-G							***
13195525-C-A	11039849-C-A							***
13349054-G-A	11193378-G-A							***
14888076-CTT-C	12776142-CTT-C						17×T	***
15020595-AT-A	12908684-AT-A						8×T	***
13513143-A-AC	11357467-A-AC						9×C	***
5252833-ATT-A	5384792-ATT-A						16×T	***
4207957-CAAA-C	4339916-CAAA-C						22×A	***
13480284-G-A	11324608-G-A							***
18861371-CT-C	16749491-CT-C						11×T	***
13478910-G-A	11323234-G-A							***
15733879-CAAA-C	13621999-CAAA-C						25×A	***
13921125-CA-C	11800419-CA-C						10×A	***
13487828-A-T	11332152-A-T							***
13705592-C-T	11549916-C-T							***
	10810562-A-G							***
	10772538-A-T							***
13470029-A-T	11314353-A-T							***
21468745-ATTT-A,ATT	19306859-ATTT-A,ATT						25×T	***
	11002112-T-A							***
22011557-CAAA-C	19849671-CAAA-C						21×A	***
14826548-GTTTT-G	12714615-GTTTT-G						19×T	***
28724174-ATTT-A	26578027-ATTT-A						20×T	***
13808742-A-AAGCAG	11688036-A-AAGCAG							***
8468065-CAAAAAA-C	8600024-CAAAAAA-C						24×A	***
21146240-C-CT	18984354-C-CT						10×T	***
	12869906-T-TTTCCTTCC						14×TTCC	***
18106353-G-GTT	15994473-G-GTT						15×T	***
14774253-CTTT-C	12662322-CTTT-C						28×T	***
13462154-A-C	11306478-A-C							***
22587954-CA-C,CAA	20426068-CA-C,CAA						13×A	***
15848964-A-T	13737084-A-T							***
	10776541-C-G							***
4937662-GT-G	5069621-GT-G						12×T	***
16309531-C-A	14197651-C-A							***
13349045-T-G	11193369-T-G							***
13349080-A-G	11193404-A-G							***
13463091-GCC-G	11307415-GCC-G							***
7758491-GTT-G	7890450-GTT-G						17×T	***
23231613-A-G	21069727-A-G							***
4409081-A-ATT	4541040-A-ATT						12×T	***
	10954280-G-GCATTC							***
13453485-A-T	11297809-A-T							***
21148503-C-A	18986617-C-A							***
16471361-C-T	14359481-C-T		FT143923					***
5177121-CAA-C	5309080-CAA-C						15×A	***
13465727-C-T	11310051-C-T							***
13465731-G-C	11310055-G-C							***
14510449-GAA-G,GA	12398654-GAA-G,GA						21×A	***
4897963-CAA-C,CA	5029922-CAA-C,CA						20×A	***
	56869320-T-C							***
13349064-A-T	11193388-A-T							***
13349042-T-C	11193366-T-C							***
13467296-T-A	11311620-T-A							***
2698238-T-A	2830197-T-A							***
3478355-CTTT-C,CTT	3610314-CTTT-C,CTT						14×T	***
3491077-G-A	3623036-G-A							***
3910070-TAA-T	4042029-TAA-T						12×A	***
4123368-T-C	4255327-T-C							***
5088909-A-G	5220868-A-G							***
6046214-T-C	6178173-T-C							***
7269610-CTTT-C,CTT	7401569-CTTT-C,CTT						22×T	***
7650599-G-A	7782558-G-A							***
8281836-TA-T	8413795-TA-T							***
9942043-ATT-A,ATTT	10104434-ATT-A,ATTT						28×T	***
	10956561-CTCCATTCCATTCCATTCCATTCCAT-C,CTCCATTCCATTCCATTCCAT							***
13374326-A-G	11218650-A-G							***
13420790-C-G	11265114-C-G							***
13454870-T-C	11299194-T-C							***
13467325-C-T	11311649-C-T							***
13467336-A-C	11311660-A-C							***
13467337-G-A	11311661-G-A							***
13969060-C-T	11848354-C-T							***
14704728-T-G	12592794-T-G							***
14704730-T-A	12592796-T-A							***
14704733-A-T	12592799-A-T							***
15406939-TAAA-T,TAAAAA	13295059-TAAA-T,TAAAAA						20×A	***
15445475-T-C	13333595-T-C							***
15951464-T-C	13839584-T-C							***
16000916-T-C	13889036-T-C							***
16321430-C-A	14209550-C-A							***
16395075-T-TG	14283195-T-TG							***
17787106-CA-C,CAA	15675226-CA-C,CAA						19×A	***
18565061-CAAAAA-C	16453181-CAAAAA-C						27×A	***
20804822-T-C	18642936-T-C			P4_Gap				***
21475931-G-A	19314045-G-A							***
23011258-A-G	20849372-A-G							***
28601002-G-GT	26454855-G-GT							***
	56871190-T-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.

Lopez

Tree Position

Unique Mutations