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	1kG HG03708
21424473-G-A	19262587-G-A	Y43326		Y	Y		+
9905595-C-T	10067986-C-T	Z6559 FGC598		Y			+
19016537-G-A	16904657-G-A			Y			+
17578248-A-G	15466368-A-G	FGC24750		Y	Y	13×TG	+
3545344-T-C	3677303-T-C	FT317660					+
3607649-C-A	3739608-C-A	FGC576 Z6537					+
3653402-T-G	3785361-T-G	FT318016					+
3672026-A-T	3803985-A-T	FGC1092 Z6538					+
3728237-G-C	3860196-G-C	FT244769					+
3861322-T-A	3993281-T-A	FT318754					+
3969337-A-G	4101296-A-G	FT244811					+
4290784-T-G	4422743-T-G						+
4496017-T-G	4627976-T-G	FT244925					+
4743592-C-T	4875551-C-T	Z6525 FGC7540					+
4874805-T-A	5006764-T-A	FT321968					+
5620431-T-A	5752390-T-A	FGC580 Z6526					+
5636368-T-C	5768327-T-C	FT324585					+
5752530-T-C	5884489-T-C	FGC581 Z6527					+
5820008-A-G	5951967-A-G	Z6528 FGC583					+
5989570-G-C	6121529-G-C	FT325733					+
6014073-C-T	6146032-C-T						+
6356995-A-G	6488954-A-G	FT326306					+
6678268-C-T	6810227-C-T	Z6529 FGC585 SK1113		Y	Y		+
6701361-A-G	6833320-A-G	FGC586 Z6544		Y	Y		+
6925600-A-G	7057559-A-G	Z6530 FGC587		Y	Y		+
6933318-G-C	7065277-G-C	Y7122		Y	Y		+
7083187-G-A	7215146-G-A			Y	Y		+
7097033-G-A	7228992-G-A	BY193212		Y	Y		+
7169661-T-G	7301620-T-G	Z6531 FGC588		Y	Y		+
7218177-C-T	7350136-C-T	FT61101		Y	Y		+
7261530-C-T	7393489-C-T	Z31470		Y	Y		+
7289634-A-G	7421593-A-G	FGC589 Z6532		Y	Y		+
7332437-A-T	7464396-A-T	FT310663		Y	Y		+
7627715-C-T	7759674-C-T	Z6533 FGC590		Y	Y		+
7942403-A-T	8074362-A-T	Z6534 FGC591		Y	Y		+
8072017-T-G	8203976-T-G	FGC592 Z6546		Y	Y		+
8109149-G-A	8241108-G-A	Z6547 FGC7533		Y	Y		+
8253871-G-A	8385830-G-A	Z17774		Y	Y		+
8305650-A-G	8437609-A-G	Z31471		Y	Y		+
8353000-C-G	8484959-C-G	FT311034		Y	Y		+
8386489-A-G	8518448-A-G	Z6551 FGC7531		Y	Y		+
8534531-A-G	8666490-A-G	Z31472		Y	Y		+
8611379-G-A	8743338-G-A	Z6552 SK1106 FGC7535		Y	Y		+
8641674-C-A	8773633-C-A	Z31473		Y	Y		+
8692834-C-T	8824793-C-T	FT311160		Y			+
8802836-C-G	8934795-C-G	Z6553 FGC595		Y	Y		+
8806930-C-T	8938889-C-T	FT245681		Y			+
9003320-A-G	9165711-A-G	FT311288			Y		+
9171844-G-A	9334235-G-A	FGC596 Z6554		Y			+
9441836-C-T	9604227-C-T	Z6555 FGC7536		Y	Y		+
9500441-G-A	9662832-G-A	FGC12804					+
9522978-G-A	9685369-G-A	FT328106					+
9759841-C-T	9922232-C-T	Z6556 FGC597 SK1109		Y			+
9771353-T-C	9933744-T-C	FT328276		Y			+
9826351-A-G	9988742-A-G	FGC1027 Z6557		Y	Y		+
9887879-A-G	10050270-A-G	FGC7539 Z6558		Y			+
9940969-C-T	10103360-C-T	FGC50436		Y			+
9950208-G-A	10112599-G-A			Y			+
9985022-G-C	10147413-G-C	L293		Y			+
10070765-T-C	10233156-T-C	FGC599 Z6655					+
13246607-C-T	11090931-C-T	Z6560					+
13499033-G-A	11343357-G-A						+
13532069-C-T	11376393-C-T						+
13555118-A-C	11399442-A-C						+
13555451-C-A	11399775-C-A						+
13656342-G-A	11500666-G-A	Z6561 FGC7545					+
13664323-G-A	11508647-G-A	Z6709 FGC601					+
13685303-T-C	11529627-T-C	Z6562 FGC602					+
13820671-A-G	11699965-A-G	FT328507					+
13971931-C-T	11851225-C-T	FGC3753 Z6563		Y			+
14157605-T-C	12036899-T-C	FT311616		Y			+
14173248-A-T	12052542-A-T	FT311625		Y	Y		+
14187420-C-G	12066714-C-G	FT311634		Y	Y		+
14310048-G-C	12189342-G-C	FT311706		Y	Y		+
14311251-T-G	12190545-T-G	Z6565 FGC603		Y	Y		+
14376925-A-T	12256221-A-T	FGC7538 Z6566		Y	Y		+
14453402-G-C	12332675-G-C	Z17775		Y	Y		+
14460914-G-A	12340187-G-A	FT311788		Y	Y		+
14626841-A-G	12514909-A-G	Z6568 FGC604		Y	Y		+
14772470-C-T	12660539-C-T	Y7123		Y	Y		+
14864520-T-G	12752586-T-G	Z6569 FGC605		Y	Y		+
15017317-G-A	12905406-G-A	Z6570 FGC606 SK1107		Y	Y		+
15106356-T-A	12994444-T-A	M7635		Y	Y	10×A	+
15145008-A-G	13033095-A-G	FT312104		Y	Y		+
15145612-A-G	13033699-A-G	FGC607 Z6571		Y	Y		+
15568534-C-A	13456654-C-A	FT312269		Y	Y		+
15605631-T-C	13493751-T-C	Z6572 FGC608		Y	Y		+
15884633-G-A	13772753-G-A			Y			+
15915544-G-A	13803664-G-A	FT312395		Y	Y		+
16284599-G-A	14172719-G-A	FGC612 Z6573		Y	Y		+
16292193-A-G	14180313-A-G	FT312535		Y	Y		+
16371916-A-G	14260036-A-G	FGC613 Z6574		Y	Y		+
16569855-A-G	14457975-A-G	FT312668		Y	Y		+
16617203-A-G	14505323-A-G	FT246297		Y			+
16701807-G-C	14589927-G-C	Z6575 FGC614		Y			+
16787092-A-T	14675212-A-T	FGC615 Z6576 SK1110		Y	Y		+
16831420-C-T	14719540-C-T	FT312777		Y	Y		+
16890874-G-A	14778994-G-A	Z6577 FGC616		Y	Y		+
16930842-T-C	14818962-T-C	FT312819		Y			+
17058939-T-C	14947059-T-C			Y			+
17307075-G-T	15195195-G-T	FT312964		Y	Y		+
17317200-G-A	15205320-G-A	FT312967		Y	Y		+
17667505-G-C	15555625-G-C	FGC617 Z6578		Y	Y		+
17849810-T-A	15737930-T-A	FT313222		Y			+
17899631-G-A	15787751-G-A			Y			+
17915684-C-A	15803804-C-A	Z6579 FGC618		Y	Y		+
17973528-G-T	15861648-G-T	Y5797 FGC619		Y			+
18118931-A-G	16007051-A-G	Z17776		Y	Y		+
18121895-G-A	16010015-G-A	FGC620 Z6580		Y	Y		+
18409184-C-T	16297304-C-T		P6_Gap				+
18579594-G-A	16467714-G-A	Z6581 FGC7584		Y			+
18685577-T-C	16573697-T-C	SK1115 Z6582		Y	Y		+
18707175-T-C	16595295-T-C	FGC621 Z6583		Y	Y		+
18756018-G-A	16644138-G-A	FT313583		Y	Y		+
18892741-A-C	16780861-A-C	FGC622 Z6584		Y	Y		+
18918813-C-A	16806933-C-A	FT313658		Y	Y		+
18946624-C-G	16834744-C-G	FGC623 Z6585		Y	Y		+
18976006-T-A	16864126-T-A	FT313672		Y			+
19032014-A-T	16920134-A-T	Z6586 FGC624		Y	Y		+
19077855-C-T	16965975-C-T	FT313722		Y	Y		+
19184156-C-T	17072276-C-T	Z30639		Y			+
19252471-G-A	17140591-G-A	Z6587 FGC7544		Y			+
19260346-C-T	17148466-C-T	Z6588 FGC7530		Y	Y		+
19271781-C-A	17159901-C-A	FGC7543 Z6589		Y	Y		+
19314856-C-T	17202976-C-T	FGC7547		Y	Y		+
19347824-A-T	17235944-A-T	Z6590 FGC7534		Y	Y		+
19527535-A-G	17415655-A-G	FGC625 Z6591		Y	Y		+
19533232-C-A	17421352-C-A	FT313931		Y	Y		+
19542591-C-G	17430711-C-G	Z6592 FGC626		Y	Y		+
20807921-T-A	18646035-T-A	FT313954	P4_Gap				+
21040508-C-T	18878622-C-T	FGC7542 Z6594 SK1112		Y			+
21129792-C-T	18967906-C-T	FT314024		Y	Y		+
21150729-C-T	18988843-C-T	FGC66056		Y			+
21151238-A-C	18989352-A-C	FT314035		Y			+
21304659-G-T	19142773-G-T	FT314106		Y	Y		+
21331384-C-T	19169498-C-T	FT314123		Y	Y		+
21422138-T-C	19260252-T-C	FT314182		Y	Y		+
21599165-T-C	19437279-T-C	FT314275		Y			+
21714605-C-T	19552719-C-T	Z6712 FGC627		Y	Y		+
21733608-T-C	19571722-T-C	FT314327		Y	Y		+
21838774-G-A	19676888-G-A	FGC628 Z6597		Y			+
21943265-A-T	19781379-A-T	FGC7541		Y			+
21943827-G-A	19781941-G-A	Z6598 FGC7583		Y			+
21973333-G-A	19811447-G-A	FGC40263		Y	Y		+
22137717-G-T	19975831-G-T	ZS12508		Y	Y		+
22165307-G-A	20003421-G-A			Y	Y		+
22216760-T-G	20054874-T-G						+
22272223-G-C	20110337-G-C	FGC630 Z6599	DYZ19				+
22437759-T-A	20275873-T-A	GG339	DYZ19				+
22460835-T-C	20298949-T-C	Z6600	DYZ19				+
22463549-G-T	20301663-G-T	Z6601 FGC631	DYZ19				+
22464869-T-G	20302983-T-G	FT354160	DYZ19				+
22468314-C-G	20306428-C-G		DYZ19				+
22471201-A-G	20309315-A-G		DYZ19				+
22472654-T-G	20310768-T-G	Z6602 FGC632	DYZ19				+
22485551-C-A	20323665-C-A	Z6603	DYZ19				+
22533986-A-G	20372100-A-G	Z6604 FGC1028		Y			+
22627218-T-C	20465332-T-C	Z17777		Y	Y		+
22734512-G-A	20572626-G-A	FT314649		Y	Y		+
22826305-G-C	20664419-G-C	FT314692		Y	Y		+
22998079-C-T	20836193-C-T	FT314772		Y	Y		+
23088577-A-G	20926691-A-G	FGC634 Z6605		Y	Y		+
23152292-A-G	20990406-A-G	FGC7546 Z6606		Y	Y		+
23187593-G-A	21025707-G-A	BY48039		Y			+
23560523-T-C	21398637-T-C	BY177451		Y	Y		+
23573267-C-T	21411381-C-T	FT315018		Y	Y		+
23602030-A-G	21440144-A-G	FGC636 Z6607		Y			+
23602040-C-G	21440154-C-G	FTA13553		Y			+
23652620-A-T	21490734-A-T	Z6608 FGC637		Y			+
23897855-C-T	21735969-C-T				Y		+
24388973-G-A	22242826-G-A	Z6609 FGC638					+
24433040-T-C	22286893-T-C	FGC639 Z6610					+
28550836-T-C	26404689-T-C	FGC640 Z6611					+
28680840-G-T	26534693-G-T	FT247361					+
28683679-G-T	26537532-G-T	Z6612 FGC641					+
28752865-G-A	26606718-G-A						+
28758079-A-G	26611932-A-G	Z6613 FGC642			Y		+
28803329-A-G	26657182-A-G	Z6614					+

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.

1k Genomes

Tree Position

Unique Mutations