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	1kG HG01991
14557934-T-C	12446135-T-C		Y5030		Y		+
13979841-G-A	11859135-G-A	S603	S603 FGC7928		Y		+
28501613-G-A	26355466-G-A		FT85293				+
15363979-G-A	13252099-G-A		Y38253		Y	Y	+
2705979-A-C	2837938-A-C		Y5165 FGC17691 Z17201		Y	Y	+
2844427-G-C	2976386-G-C		FT344974		Y	Y	+
2871154-C-T	3003113-C-T		FT344985		Y	Y	+
2888847-G-A	3020806-G-A				Y	Y	+
2912795-A-G	3044754-A-G		S8478 Z17202		Y	Y	+
2931001-T-C	3062960-T-C						+
3444104-C-T	3576063-C-T		FT155682				+
3521401-G-A	3653360-G-A		FT155698				+
3562685-T-C	3694644-T-C		FT84350				+
3654216-A-G	3786175-A-G		FGC4793				+
3688970-C-A	3820929-C-A		Y5166				+
3749748-A-G	3881707-A-G						+
3900658-T-C	4032617-T-C		FT84402				+
4131298-A-C	4263257-A-C		FT93634				+
4160101-C-T	4292060-C-T		Y5026 FGC17697				+
4283929-T-TA	4415888-T-TA						+
4378742-A-C	4510701-A-C						+
4587196-G-T	4719155-G-T		FT93687				+
4786305-C-T	4918264-C-T		Y5020				+
4944350-A-G	5076309-A-G						+
5101728-C-T	5233687-C-T		FT84597				+
5131415-T-C	5263374-T-C		FT84604				+
5154472-T-A	5286431-T-A		FT84613				+
5390100-A-G	5522059-A-G		FT156162				+
5390115-C-T	5522074-C-T		FT156164				+
5652023-C-G	5783982-C-G		FT84691				+
5677640-T-C	5809599-T-C		FT84698				+
5810266-G-A	5942225-G-A						+
5810267-C-T	5942226-C-T						+
5921448-G-C	6053407-G-C		FT84730				+
5950921-TA-T	6082880-TA-T						+
6082825-C-T	6214784-C-T		FT84752				+
6471289-C-A	6603248-C-A		FT84771				+
6640961-A-T	6772920-A-T		FT345006		Y		+
7014192-G-A	7146151-G-A		PR828 FT75689		Y	Y	+
7141787-C-T	7273746-C-T		FT345173		Y		+
7150191-G-A	7282150-G-A		S9889		Y		+
7169421-C-T	7301380-C-T		Y5021 FGC17704		Y	Y	+
7199047-T-C	7331006-T-C		Y5022 FGC17683		Y	Y	+
7390646-T-C	7522605-T-C		FT345289		Y	Y	+
7549561-C-T	7681520-C-T		Y5167 FGC17688 Z17203		Y	Y	+
7707425-C-A	7839384-C-A		FT345411		Y	Y	+
7962343-G-A	8094302-G-A		Y5023 Z17204 FGC17698		Y	Y	+
8066037-A-G	8197996-A-G		Y85750		Y		+
8248414-C-A	8380373-C-A		Y5168 Z17205 FGC17696		Y	Y	+
8265401-A-G	8397360-A-G		FT345596		Y	Y	+
8310342-G-A	8442301-G-A		FT345617		Y	Y	+
8426602-A-C	8558561-A-C		FT345666		Y	Y	+
8538774-T-A	8670733-T-A		Y5025 Z17206 FGC17681		Y	Y	+
8636771-G-A	8768730-G-A		Y5007 FGC17673 Z17207		Y	Y	+
8671426-T-A	8803385-T-A		FT84850		Y	Y	+
8775926-G-A	8907885-G-A		Y5171 Z17208 FGC17690		Y	Y	+
8789349-T-A	8921308-T-A		Y5160 Z17209 FGC17669		Y	Y	+
9408150-C-T	9570541-C-T		Y5162 Z17210 FGC17668		Y	Y	+
9778701-T-A	9941092-T-A		Z17211 S12472		Y		+
9962713-G-A	10125104-G-A				Y		+
9979999-T-A	10142390-T-A		FGC17709		Y		+
13202270-G-A	11046594-G-A		FGC17693 Z17212				+
13330767-A-T	11175091-A-T		FGC80327				+
13711334-G-A	11555658-G-A						+
13840121-G-C	11719415-G-C		Y5163 Z17213 FGC17671				+
13941041-T-C	11820335-T-C		Y23313		Y		+
13963720-T-G	11843014-T-G		FT346091		Y		+
13978431-T-C	11857725-T-C				Y		+
13979307-G-T	11858601-G-T				Y		+
14020003-T-C	11899297-T-C				Y		+
14118334-A-C	11997628-A-C		FGC43455		Y	Y	+
14165497-C-T	12044791-C-T				Y		+
14170295-C-A	12049589-C-A		Y5009 FGC17679 Z17214		Y	Y	+
14201995-G-A	12081289-G-A		Y5010 FGC17701		Y	Y	+
14331787-C-A	12211081-C-A		Y5029 Z17215 FGC17670		Y	Y	+
14500829-C-T	12389034-C-T		S16092 Z17216		Y	Y	+
14576583-A-T	12464783-A-T		Y5031 Z17217 FGC17702		Y	Y	+
14667788-C-G	12555853-C-G		Y9415		Y	Y	+
14741946-G-A	12630014-G-A		PF6646		Y		+
14884527-G-C	12772593-G-C		Y5032		Y	Y	+
14934407-C-A	12822472-C-A		Y5056		Y	Y	+
14938609-T-C	12826684-T-C		S16574		Y	Y	+
14992253-T-G	12880338-T-G		Y5033 FGC17687		Y	Y	+
15095509-C-T	12983597-C-T		FT346537		Y	Y	+
15262425-C-T	13150509-C-T		Y5034 Z45730		Y	Y	+
15376350-C-T	13264470-C-T		FT84977		Y		+
15583906-G-A	13472026-G-A		Y5036 Z17218 FGC17680		Y	Y	+
15724735-G-C	13612855-G-C	BY36329	Y5037 Z17219 FGC17677		Y	Y	+
15769431-G-A	13657551-G-A		Y5499		Y	Y	+
15860759-G-A	13748879-G-A		Y5038 FGC17672		Y	Y	+
16049618-G-T	13937738-G-T		Z17220 S17862		Y	Y	+
16221076-A-G	14109196-A-G		Y5045 FGC17678		Y	Y	+
16431223-C-T	14319343-C-T		Y5018 FGC17674		Y	Y	+
16630098-A-G	14518218-A-G		Z17221 S18579		Y	Y	+
16944095-C-T	14832215-C-T		FT45281		Y	Y	+
16986737-T-G	14874857-T-G		FT347193		Y	Y	+
17121561-A-G	15009681-A-G		Y5027 Z17222		Y	Y	+
17121633-G-A	15009753-G-A		Z17223 S19243		Y	Y	+
17181942-T-G	15070062-T-G		S19325		Y		+
17197344-C-T	15085464-C-T		Y5028 FGC17686 Z17224		Y	Y	+
17255793-G-A	15143913-G-A		Y5159 Z17225 FGC17706		Y	Y	+
17826865-C-A	15714985-C-A				Y		+
17834623-C-A	15722743-C-A				Y	Y	+
17869454-A-G	15757574-A-G		Z17226 S20326		Y	Y	+
17881762-C-T	15769882-C-T		Z17227 S20343		Y	Y	+
18179616-G-T	16067736-G-T		Y5012		Y	Y	+
18735296-A-G	16623416-A-G				Y		+
18966733-G-A	16854853-G-A		Z17229 S21556		Y	Y	+
19131119-T-C	17019239-T-C		S21835 Z17230		Y	Y	+
19300113-T-C	17188233-T-C		FT85169		Y		+
19316122-A-G	17204242-A-G		S22109 Z17231		Y	Y	+
20837551-G-A	18675665-G-A		FT348188	P4_Gap			+
21042681-T-C	18880795-T-C		FT348197		Y		+
21105291-G-T	18943405-G-T		S22570 Z17232		Y	Y	+
21111470-A-G	18949584-A-G		FT348217		Y	Y	+
21152462-T-C	18990576-T-C		FGC43456		Y		+
21326971-A-G	19165085-A-G		Y5039 Z17233 FGC17707		Y	Y	+
21391763-C-G	19229877-C-G		Y5041 FGC17675		Y	Y	+
21426905-C-T	19265019-C-T				Y	Y	+
21516425-G-T	19354539-G-T		Z17234 S23196		Y	Y	+
21518417-A-T	19356531-A-T		Y5169 FGC19515		Y	Y	+
21539575-A-G	19377689-A-G				Y		+
21625906-C-A	19464020-C-A		Y5042 FGC17689 Z17235		Y	Y	+
21643238-T-G	19481352-T-G		Y5043 FGC17705 Z17236		Y	Y	+
21822831-G-A	19660945-G-A		S23603 Z17237		Y	Y	+
21895428-C-T	19733542-C-T		S23689		Y	Y	+
21994283-A-G	19832397-A-G		Z17238 S23843		Y	Y	+
22022422-A-C	19860536-A-C		Z17239 S23884		Y	Y	+
22079130-C-A	19917244-C-A		Y5170 FGC19516 Z17240		Y	Y	+
22081231-A-C	19919345-A-C		Y5044 FGC17700 Z17241		Y	Y	+
22246733-T-A	20084847-T-A		FGC17708	DYZ19			+
22270954-G-A	20109068-G-A		FGC17684 Z17242	DYZ19			+
22606721-T-C	20444835-T-C		Y5015 FGC17692 Z17243		Y	Y	+
22612801-C-G	20450915-C-G		Y5172 FGC19514 Z17244		Y	Y	+
22643019-G-A	20481133-G-A		FT348688		Y		+
22673922-A-T	20512036-A-T		Y5174 Z17245 FGC17685		Y	Y	+
22717045-T-C	20555159-T-C		S24602 Z17246		Y	Y	+
22822866-G-C	20660980-G-C		Y5175 Z17247 FGC17699		Y	Y	+
22939078-G-T	20777192-G-T		Z17248 S24906		Y	Y	+
23093544-T-C	20931658-T-C		FT348852		Y		+
23102520-G-A	20940634-G-A				Y		+
23429962-C-T	21268076-C-T		Y5019 FGC17703 Z17249		Y	Y	+
23474636-A-C	21312750-A-C		Y5173 Z17250 FGC17695		Y	Y	+
23550421-A-T	21388535-A-T		Y5016 Z17251 FGC17682		Y	Y	+
23652459-C-A	21490573-C-A		Y5017 Z17252		Y		+
23810906-T-C	21649020-T-C		BY147879			Y	+
23971057-C-T	21824910-C-T		FT349102			Y	+
24888506-G-A	22742359-G-A		Z17253	g1			+
27507577-G-A	25361430-G-A		FGC19517	P1_Y2			+

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