Tree Position

A0-T-YP2191 > P305[A1] > A1b > BT/A1b2 > M168/PF1416[CT] > M145/P205/PF144 > M96/PF1823 > P147 > M132

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 HGDP01284
13813091-T-C	11692385-T-C		Z17432					+
22477043-C-T	20315157-C-T		BY53173	DYZ19				+
13396337-C-T	11240661-C-T							+
15514675-G-A	13402795-G-A		Z17444 V3003		Y	Y		+
15640024-C-A	13528144-C-A				Y			+
2721922-G-A	2853881-G-A		Y16124		Y	Y		+
2783019-C-T	2914978-C-T		Z20646		Y	Y		+
2986788-C-G	3118747-C-G		FT38174					+
3070945-C-T	3202904-C-T							+
3071017-T-A	3202976-T-A		FT164589					+
3119659-C-A	3251618-C-A		FT112652					+
3141722-C-A	3273681-C-A		FT38271					+
3240314-A-G	3372273-A-G		FT38320					+
3352303-T-C	3484262-T-C		FT38364					+
3399446-T-C	3531405-T-C		FT112834					+
3451637-G-A	3583596-G-A							+
3457059-A-G	3589018-A-G		Y18566					+
3659689-C-G	3791648-C-G		FT38552					+
3709458-A-T	3841417-A-T		FT38583					+
4024958-G-A	4156917-G-A		FT38791					+
4047573-T-G	4179532-T-G		FT38817					+
4174251-T-A	4306210-T-A		FT93641					+
4220545-T-C	4352504-T-C							+
4229774-A-C	4361733-A-C		Z17405					+
4400566-A-G	4532525-A-G		FT39022					+
4418080-G-A	4550039-G-A		FT39036					+
4468138-A-G	4600097-A-G		FT39062					+
4492042-C-G	4624001-C-G							+
4494400-A-C	4626359-A-C							+
4545008-G-C	4676967-G-C		FT39106					+
4572689-T-C	4704648-T-C		FT39131					+
4575068-A-T	4707027-A-T		FT39135					+
4586770-A-G	4718729-A-G		FT39140					+
4719261-T-C	4851220-T-C		FT39216					+
4759812-G-A	4891771-G-A		FT39239					+
4788007-T-C	4919966-T-C		FT39253					+
4816912-G-C	4948871-G-C		FT39269					+
4874836-G-C	5006795-G-C		L1238					+
5004497-G-T	5136456-G-T		FT39353					+
5005823-C-T	5137782-C-T		FT39354					+
5083101-C-T	5215060-C-T		FT39399					+
5095760-T-C	5227719-T-C		FT39404					+
5154124-G-A	5286083-G-A		FT39438					+
5239281-G-T	5371240-G-T		FT86160					+
5316406-T-A	5448365-T-A		FT114319					+
5326757-G-T	5458716-G-T		FT39535					+
5389163-T-C	5521122-T-C		FT39573					+
5440169-C-T	5572128-C-T		FT39604					+
5615271-C-A	5747230-C-A		FT39719					+
5680495-GC-G	5812454-GC-G							+
5804079-C-T	5936038-C-T		FT86340					+
5812197-C-T	5944156-C-T							+
5874825-A-T	6006784-A-T		FT39882					+
5898513-A-G	6030472-A-G		FT86372					+
5999988-C-G	6131947-C-G		Y16125					+
6429441-T-C	6561400-T-C		Y15939					+
6434179-A-G	6566138-A-G		FT40075					+
6721701-C-T	6853660-C-T				Y			+
6726864-C-T	6858823-C-T		YP5325		Y			+
6742078-T-G	6874037-T-G		SK569 Z20647		Y	Y		+
6817670-A-G	6949629-A-G		Z17406		Y	Y		+
6818735-A-G	6950694-A-G		Z17407		Y	Y		+
6877229-T-G	7009188-T-G		L1239		Y	Y		+
7097751-T-C	7229710-T-C		Y38030		Y			+
7199933-A-G	7331892-A-G		Y17546		Y			+
7264275-C-G	7396234-C-G		Y38179		Y			+
7272723-A-G	7404682-A-G		Z17409		Y	Y		+
7293376-G-A	7425335-G-A		Z17410		Y	Y		+
7320185-C-T	7452144-C-T		YP5681		Y			+
7348458-G-A	7480417-G-A		Y20284		Y	Y		+
7387807-G-C	7519766-G-C		Y15940		Y	Y		+
7575934-T-G	7707893-T-G				Y			+
8022265-C-T	8154224-C-T		Z17411		Y	Y		+
8047149-G-T	8179108-G-T		V1584 Z17412		Y	Y		+
8067054-TGTG-T	8199013-TGTG-T							+
8069928-T-G	8201887-T-G		Z17413		Y	Y		+
8070458-C-G	8202417-C-G		Z17414		Y	Y		+
8072876-C-T	8204835-C-T		Y63066		Y			+
8138277-A-G	8270236-A-G		Z17415		Y	Y		+
8210290-G-A	8342249-G-A		Z17416		Y	Y		+
8233083-C-T	8365042-C-T		V1740 SK567 Z17417		Y	Y		+
8282207-C-A	8414166-C-A		V1776 Z17418		Y	Y		+
8303934-C-T	8435893-C-T		Z20648		Y	Y		+
8399039-G-A	8530998-G-A		V1883		Y	Y		+
8436218-G-A	8568177-G-A		V1971 Z17419		Y	Y		+
8472581-G-T	8604540-G-T		S11513 Z17420 V2068 SK562		Y	Y		+
8503110-C-T	8635069-C-T		M4507		Y	Y		+
8594203-G-A	8726162-G-A		Z17422 SK566 V2316		Y	Y		+
8641183-G-A	8773142-G-A		Z17423 V2407		Y	Y		+
8689851-T-C	8821810-T-C		Z17424 V2463		Y	Y		+
8733429-G-A	8865388-G-A		FT40943		Y			+
8759895-G-A	8891854-G-A		Z17425		Y	Y		+
8764891-C-T	8896850-C-T		Z17426		Y	Y		+
8844933-T-C	8976892-T-C		Z17427		Y	Y		+
8906541-C-T	9038500-C-T		Z17428					+
8974459-T-C	9136850-T-C		Y17557					+
9431116-T-C	9593507-T-C		Y18567		Y			+
9453335-C-G	9615726-C-G		Z17429		Y	Y		+
9485678-A-C	9648069-A-C		Z17430					+
9640653-A-G	9803044-A-G		Z17431	IR3_Prx				+
9869371-A-G	10031762-A-G		Y16128		Y	Y		+
9912562-G-C	10074953-G-C				Y			+
9917532-A-G	10079923-A-G		FT250527		Y			+
13228220-G-T	11072544-G-T		BY84678					+
13252352-C-T	11096676-C-T		FT92324					+
13532276-C-T	11376600-C-T							+
13649928-A-T	11494252-A-T		Z40502					+
13668246-TA-T	11512570-TA-T							+
13809873-G-A	11689167-G-A		FT93920					+
13844680-G-T	11723974-G-T		Y130295					+
13967562-G-A	11846856-G-A		FT41337		Y			+
13969335-C-A	11848629-C-A		FGC76145		Y			+
14024765-A-T	11904059-A-T		Z17433		Y	Y		+
14047617-A-G	11926911-A-G				Y			+
14110388-C-T	11989682-C-T		Y17723		Y			+
14133607-C-T	12012901-C-T		Y38032		Y			+
14231927-G-C	12111221-G-C		Y17548		Y	Y		+
14449150-C-T	12328423-C-T		Z17434		Y	Y		+
14462817-C-T	12342090-C-T		Z17435		Y	Y		+
14560190-A-T	12448391-A-T		Y38031		Y		10×T	+
14622354-G-T	12510552-G-T		Z17436		Y	Y		+
14721070-C-T	12609138-C-T		Z17437		Y	Y		+
14738580-G-A	12626648-G-A		YP5363		Y			+
14747489-G-A	12635558-G-A				Y	Y		+
14764139-A-G	12652208-A-G		Z17438		Y	Y		+
14824029-C-T	12712096-C-T		Z20649		Y	Y		+
14933676-G-A	12821741-G-A		Y17549		Y	Y		+
14940372-T-C	12828446-T-C		Y20482		Y	Y		+
15018495-A-G	12906584-A-G		L632		Y	Y		+
15040134-G-A	12928224-G-A		Z17439 V2779		Y	Y		+
15106838-C-G	12994925-C-G		Y18564		Y	Y		+
15195485-G-T	13083571-G-T		Z17440		Y	Y		+
15216818-C-T	13104904-C-T		Y20483		Y			+
15295382-C-A	13183481-C-A				Y			+
15360363-C-T	13248483-C-T		Z17441 V2908		Y	Y		+
15498288-T-C	13386408-T-C		Z17442 V2981		Y	Y		+
15512685-T-C	13400805-T-C		Z17443 V3000		Y	Y		+
15582383-T-C	13470503-T-C		Z17445 V3045		Y	Y		+
15615452-T-G	13503572-T-G		L1240		Y	Y		+
15800133-G-A	13688253-G-A		L634		Y	Y		+
15840381-A-G	13728501-A-G		Z17446 V3168		Y	Y		+
16000478-A-G	13888598-A-G		YP5369		Y			+
16479069-A-T	14367189-A-T		Z17447		Y	Y		+
16555925-G-A	14444045-G-A		Z17449		Y	Y		+
16657037-C-G	14545157-C-G		Y38180		Y			+
16669389-C-T	14557509-C-T		Y20484		Y	Y		+
16770555-A-G	14658675-A-G		Y20285		Y	Y		+
16806517-T-G	14694637-T-G		SK564 Z17450		Y	Y		+
17043373-G-A	14931493-G-A		Z17451		Y	Y		+
17114513-C-A	15002633-C-A		Y20485		Y	Y		+
17137473-C-T	15025593-C-T		Z17452		Y	Y		+
17145596-C-T	15033716-C-T		Z17453		Y	Y		+
17232043-G-T	15120163-G-T		Z17454		Y	Y		+
17245160-G-A	15133280-G-A		FT42577		Y			+
17250815-T-C	15138935-T-C		Y18568		Y	Y		+
17289518-T-C	15177638-T-C		Z17455		Y	Y		+
17363818-T-C	15251938-T-C		Z17456		Y	Y		+
17373146-G-A	15261266-G-A		YP5361		Y			+
17376257-G-A	15264377-G-A		FT164860		Y			+
17406818-T-A	15294938-T-A		Y15941		Y	Y		+
17415831-G-A	15303951-G-A		Z17457		Y	Y		+
17531870-T-C	15419990-T-C		Z17458		Y	Y		+
17534567-T-C	15422687-T-C		Y17551		Y	Y		+
17658531-C-T	15546651-C-T		Z17459		Y	Y		+
17871893-C-A	15760013-C-A		Y17552		Y	Y		+
18006342-C-T	15894462-C-T		Z17460	P7_Gap	Y			+
18034581-A-G	15922701-A-G		Y15942		Y	Y		+
18044540-C-T	15932660-C-T		Z17461		Y	Y		+
18142420-G-A	16030540-G-A				Y			+
18169941-C-T	16058061-C-T		Z17462		Y	Y		+
18197970-T-C	16086090-T-C		Z17463		Y	Y		+
18199967-G-A	16088087-G-A		Z17464		Y	Y		+
18252343-T-C	16140463-T-C		Z17465			Y		+
18587512-G-A	16475632-G-A		Z17466 V3302		Y	Y		+
18675604-C-T	16563724-C-T		Z17467		Y	Y		+
18815000-G-A	16703120-G-A		Y20486		Y	Y		+
18919035-C-T	16807155-C-T		Z17468 V3605		Y	Y		+
18925978-G-T	16814098-G-T		Z17469 V3615		Y	Y		+
19097810-T-G	16985930-T-G				Y			+
19129719-A-T	17017839-A-T		Y15943		Y	Y		+
19215075-G-A	17103195-G-A		Z17471		Y	Y		+
19280369-G-A	17168489-G-A		Z17472 V3976		Y	Y		+
19308917-C-T	17197037-C-T		FT338645		Y	Y		+
19351083-A-G	17239203-A-G		FT118722		Y	Y		+
19443913-G-A	17332033-G-A		Z17473		Y	Y		+
19464463-G-A	17352583-G-A		Y17724		Y			+
19521520-AC-A	17409640-AC-A							+
19553567-C-A	17441687-C-A		YP5362		Y			+
20835006-G-A	18673120-G-A		Z17474	P4_Gap				+
21032951-C-A	18871065-C-A		Z17475		Y			+
21043272-G-A	18881386-G-A		PR6516 Y20487		Y			+
21183292-A-G	19021406-A-G		Z17476		Y	Y		+
21199908-G-C	19038022-G-C				Y			+
21200332-T-C	19038446-T-C		Y20490		Y	Y		+
21217258-T-C	19055372-T-C		Z17477		Y	Y		+
21326678-C-T	19164792-C-T		Z17478		Y	Y		+
21349758-T-A	19187872-T-A		YP5326		Y			+
21540822-C-G	19378936-C-G		Y20491		Y	Y		+
21592651-C-G	19430765-C-G				Y	Y		+
21696267-G-A	19534381-G-A		Z17479		Y	Y		+
21724224-G-A	19562338-G-A		SK565 Z17480		Y	Y		+
21752644-G-C	19590758-G-C		M44		Y	Y		+
21799913-G-A	19638027-G-A				Y	Y		+
21857265-T-C	19695379-T-C		Z17481		Y	Y		+
21934949-C-A	19773063-C-A		Z17482		Y	Y		+
22017810-G-C	19855924-G-C		YP5327		Y			+
22039299-C-G	19877413-C-G		Z17483		Y	Y		+
22053168-T-C	19891282-T-C		Z17484		Y	Y		+
22133756-A-G	19971870-A-G		Z17485		Y	Y		+
22155318-C-G	19993432-C-G		Y21093		Y			+
22191939-C-T	20030053-C-T		Y20488		Y	Y		+
22204546-G-A	20042660-G-A		Y17556		Y			+
22225803-T-G	20063917-T-G		Z17486	DYZ19				+
22231296-C-T	20069410-C-T		BY213486	DYZ19				+
22233107-G-A	20071221-G-A		Z17487	DYZ19				+
22280116-A-G	20118230-A-G			DYZ19				+
22280129-T-G	20118243-T-G		Z17493	DYZ19				+
22298202-C-G	20136316-C-G		Z17495	DYZ19				+
22422627-T-C	20260741-T-C		BY217867	DYZ19				+
22438887-A-T	20277001-A-T		BY46360	DYZ19				+
22449202-C-G	20287316-C-G			DYZ19				+
22483582-T-C	20321696-T-C		Z17497	DYZ19				+
22485177-T-A	20323291-T-A			DYZ19				+
22513171-G-T	20351285-G-T		Y16132		Y			+
22585201-T-C	20423315-T-C		Z17498 SK568		Y	Y		+
22696139-A-G	20534253-A-G		YP5367		Y			+
22839511-A-G	20677625-A-G				Y			+
22960452-C-T	20798566-C-T		Z17499		Y	Y		+
23036856-G-A	20874970-G-A		Y15944 A8348		Y	Y		+
23053647-C-A	20891761-C-A		Z17500		Y	Y		+
23089277-C-T	20927391-C-T		Z17501		Y	Y		+
23109769-C-T	20947883-C-T				Y			+
23119625-A-G	20957739-A-G		Z17502		Y	Y		+
23142130-T-A	20980244-T-A		Y24132		Y	Y		+
23424840-T-C	21262954-T-C		Z17503		Y	Y		+
23495215-G-A	21333329-G-A		Z17504		Y	Y		+
23870896-C-T	21709010-C-T		Z17505			Y		+
28553233-G-A	26407086-G-A		YP5328					+
28732432-G-A	26586285-G-A		Z17507			Y		+
28781785-C-T	26635638-C-T		FT461657					+

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.