Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > Z195/S355 > Z198 > CTS4188 > S14445 > S11121 > BY27671 > FT50902

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 STR1kG
NA19756
Manual
Edits
13688247-A-G 11532571-A-G +
17467526-G-A 15355646-G-A PF3759 YSC0000267 YY+
13221682-G-C 11066006-G-C +
7622037-A-C 7753996-A-C YY+
28797882-G-T 26651735-G-T +
28716998-C-A 26570851-C-A CTS12831 +
28717005-G-A 26570858-G-A CTS12832 +
13371319-C-A 11215643-C-A +
13399371-C-A 11243695-C-A FGC41965 +
26463062-G-A 24316915-G-A P1_Y1 +
26463078-A-G 24316931-A-G P1_Y1 +
28693905-A-G 26547758-A-G CTS12758 +
19130731-C-T 17018851-C-T YY+
9933192-G-T 10095583-G-T Y+
14109316-C-T 11988610-C-T Y90345 YY14×T+
9040207-A-T 9202598-A-T F17669 Y16×T+
7622025-T-C 7753984-T-C YY+
6827297-C-T 6959256-C-T CTS533 Y+
7167132-C-T 7299091-C-T FGC42400 Y+
8783139-C-T 8915098-C-T FT295545 YY+
9076256-C-T 9238647-C-T FT236311 +
14229525-C-T 12108819-C-T CTS2243 YY+
14248689-G-A 12127983-G-A CTS2287 YY+
14583929-C-T 12472129-C-T CTS2949 YY+
14921925-C-A 12809990-C-A FT296339 YY+
15139183-A-T 13027270-A-T M2182 CTS3734 YY+
15394325-T-C 13282445-T-C CTS4095 YY+
16637611-T-C 14525731-T-C FT257023 YY+
16652434-C-T 14540554-C-T CTS6075 Y+
17083124-C-T 14971244-C-T YY+
17229242-T-C 15117362-T-C CTS7000 Y+
17323081-TGA-T 15211201-TGA-T +
17462282-G-A 15350402-G-A CTS7402 YY+
19160416-G-A 17048536-G-A CTS9940 V3843 YY+
19228519-T-C 17116639-T-C CTS10049 YY+
21185219-T-C 19023333-T-C YY+
21415550-G-A 19253664-G-A BY55248 YY+
21676170-A-C 19514284-A-C FT298594 YY+
22105616-C-T 19943730-C-T YY+
22695306-C-T 20533420-C-T Z15546 Y+
23281689-G-A 21119803-G-A CTS11797 YY+
24422830-C-T 22276683-C-T M2301 S26149 Z5047 Y+
3037279-A-G 3169238-A-G +
6027612-G-C 6159571-G-C +
2917128-G-A 3049087-G-A Y+
3002905-C-T 3134864-C-T +
3017792-A-T 3149751-A-T +
3080515-A-AT 3212474-A-AT +
3381684-A-T 3513643-A-T +
3389642-G-A 3521601-G-A FT144766 +
3459309-G-A 3591268-G-A FT317313 +
3554056-C-CAA 3686015-C-CAA +
3560926-G-A 3692885-G-A +
3574303-C-T 3706262-C-T +
3631856-T-C 3763815-T-C +
3631861-G-A 3763820-G-A +
3645556-G-A 3777515-G-A +
3645570-A-G 3777529-A-G +
3851305-CGT-C 3983264-CGT-C +
3990155-T-C 4122114-T-C +
3990160-C-G 4122119-C-G +
4015729-G-GA 4147688-G-GA +
4197890-A-G 4329849-A-G +
4293909-C-T 4425868-C-T +
4378990-G-A 4510949-G-A +
4379831-T-G 4511790-T-G +
4521912-A-T 4653871-A-T +
4581353-C-T 4713312-C-T +
4640648-A-C 4772607-A-C +
4794855-C-T 4926814-C-T 21×T+
5194521-G-T 5326480-G-T +
5204892-T-A 5336851-T-A +
5212719-T-A 5344678-T-A FT323106 +
5497400-A-G 5629359-A-G +
5518795-A-G 5650754-A-G +
5570143-G-C 5702102-G-C +
5570358-T-C 5702317-T-C +
5644508-T-A 5776467-T-A FTB22260 +
5644518-T-G 5776477-T-G FTB22261 +
5927611-G-T 6059570-G-T +
5950369-A-G 6082328-A-G +
5971668-A-T 6103627-A-T +
6010357-C-A 6142316-C-A +
6010500-G-C 6142459-G-C +
6013651-A-T 6145610-A-T +
6096803-T-A 6228762-T-A +
6406347-T-A 6538306-T-A +
6530589-A-G 6662548-A-G FT326832 +
6861220-T-A 6993179-T-A CTS581 YY+
7240120-T-A 7372079-T-A Y+
7672340-C-T 7804299-C-T YY+
7723802-A-AAG 7855761-A-AAG +
7772320-A-T 7904279-A-T YY+
7914723-C-T 8046682-C-T YY+
7971632-A-C 8103591-A-C YY+
8031334-T-A 8163293-T-A YY+
8261226-A-G 8393185-A-G FGC33331 YY+
8580434-A-G 8712393-A-G YY+
9307394-G-C 9469785-G-C Y+
9769136-T-C 9931527-T-C FT328272 Y+
9933181-G-C 10095572-G-C Y+
9933183-GT-G 10095574-GT-G +
9933199-G-A 10095590-G-A Y+
9999304-T-G 10161695-T-G Y+
13221664-T-C 11065988-T-C +
13278499-A-T 11122823-A-T +
13291889-T-TGG 11136213-T-TGG +
13303894-T-G 11148218-T-G +
13319375-C-G 11163699-C-G S531 +
13339813-C-T 11184137-C-T +
13399359-C-T 11243683-C-T +
13399415-G-C 11243739-G-C +
13400069-C-T 11244393-C-T +
13410392-T-C 11254716-T-C +
13445382-A-G 11289706-A-G +
13445419-A-T 11289743-A-T +
13451191-T-TC 11295515-T-TC +
13500391-G-A 11344715-G-A +
13514355-T-A 11358679-T-A +
13517094-A-G 11361418-A-G +
13601002-TAC-T 11445326-TAC-T +
13616462-A-T 11460786-A-T +
13620795-T-A 11465119-T-A +
13832593-G-T 11711887-G-T FT328598 +
13853430-T-C 11732724-T-C FT328758 +
13952265-T-C 11831559-T-C FT346077 Y+
13952278-A-C 11831572-A-C FT346078 Y+
13992617-G-T 11871911-G-T YY+
14059210-G-T 11938504-G-T M9078 YY+
14200751-TAGA-T 12080045-TAGA-T +
14297426-T-C 12176720-T-C Y+
14335236-G-A 12214531-G-A YY+
14445706-G-A 12324979-G-A CTS2722 Y+
15147074-C-A 13035161-C-A CTS3741 Y+
15399996-C-T 13288116-C-T CTS4108 Y+
15426964-A-T 13315084-A-T YY+
15479688-T-A 13367808-T-A YY+
15841579-G-A 13729699-G-A YY+
16434013-T-C 14322133-T-C FT296861 YY+
16443015-C-T 14331135-C-T YY+
16739151-G-C 14627271-G-C Y+
16742737-T-A 14630857-T-A CTS6225 YY+
16782772-T-A 14670892-T-A YY+
17062623-C-G 14950743-C-G CTS6696 Y+
17062627-G-A 14950747-G-A CTS6697 Y+
17334753-A-G 15222873-A-G CTS7171 YY+
17627816-T-C 15515936-T-C Y+
17694286-T-A 15582406-T-A CTS7834 YY+
17794207-T-C 15682327-T-C YY+
17819220-A-T 15707340-A-T YY+
18111781-A-T 15999901-A-T YY+
18424116-C-T 16312236-C-T P6_Gap +
18610575-T-A 16498695-T-A YY+
18737011-T-G 16625131-T-G YY+
18936357-A-G 16824477-A-G CTS9500 YY+
18944936-T-A 16833056-T-A CTS9514 YY+
19131666-A-T 17019786-A-T CTS9907 YY+
19131676-T-A 17019796-T-A CTS9908 YY+
19143590-T-C 17031710-T-C CTS9914 YY+
19393541-A-T 17281661-A-T YY+
21146444-A-T 18984558-A-T YY+
21180299-C-A 19018413-C-A YY+
21381702-C-A 19219816-C-A Y+
21464555-AG-A 19302669-AG-A +
21544107-T-C 19382221-T-C Y+
21616103-C-G 19454217-C-G YY+
21623810-TTG-T 19461924-TTG-T +
21690067-C-T 19528181-C-T YY+
21760123-G-A 19598237-G-A YY+
21826090-C-T 19664204-C-T YY+
21862819-A-G 19700933-A-G YY+
21927518-A-G 19765632-A-G YY+
21940416-C-A 19778530-C-A S23739 Y+
21985934-A-G 19824048-A-G YY+
22014410-C-T 19852524-C-T Y+
22014440-G-C 19852554-G-C Y+
22243291-C-T 20081405-C-T DYZ19 +
22437634-G-C 20275748-G-C DYZ19 +
22475819-T-A 20313933-T-A 16485957-C-TBY223435 DYZ19 +
22480506-A-C 20318620-A-C DYZ19 +
22507942-G-T 20346056-G-T DYZ19 +
22818052-A-C 20656166-A-C YY+
23063259-A-T 20901373-A-T YY+
23089191-A-G 20927305-A-G CTS11383 YY+
23190168-C-A 21028282-C-A Y+
23194153-T-C 21032267-T-C Y+
23261176-T-G 21099290-T-G Y+
23261178-T-TC 21099292-T-TC +
23301080-G-T 21139194-G-T CTS11832 YY+
23394929-C-T 21233043-C-T YY+
23481560-C-G 21319674-C-G YY+
23533715-G-T 21371829-G-T YY+
24872469-T-C 22726322-T-C IR1_R +
25317097-A-C 23170950-A-C P2_r1 +
28595390-C-G 26449243-C-G CTS12491 +
28595406-A-G 26449259-A-G CTS12492 +
28595450-C-A 26449303-C-A CTS12493 +
28595452-A-G 26449305-A-G CTS12494 +
28643615-C-G 26497468-C-G +
28657110-A-C 26510963-A-C +
28679781-T-C 26533634-T-C +
28683137-T-C 26536990-T-C CTS12722 +
28698742-G-A 26552595-G-A +
28698745-T-C 26552598-T-C +
28726668-A-C 26580521-A-C Y+
28746939-C-G 26600792-C-G Y+
28746966-CT-C 26600819-CT-C +
28746973-G-C 26600826-G-C Y+
28777267-A-C 26631120-A-C +
28797878-G-A 26651731-G-A +
28817653-GGAATGGAAT-G 26671506-GGAATGGAAT-G +
58976196-A-ACTCCC 56830049-A-ACTCCC +
58976214-C-CCATTG 56830067-C-CCATTG +

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.

Mutation Notes:

Kit POSITION-REF-ALT (hg19) POSITION-REF-ALT (hg38) Note
Manual19942076-T-C17830196-T-C1C. 4G at the opposite position, 20237701.
Manual25077407-C-T22931260-C-T3C at 25077407, no reads at 27251233, 2T at 26711155.