Tree Position

R-P312/S116 > A9063 > BY15463

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 STRBigY3
3765870-T-A 3897829-T-A FT349530 A+
28517460-G-A 26371313-G-A A+
13687031-T-A 11531355-T-A A*
18359902-T-G 16248022-T-G P6_Prx A*A*
20013354-T-C 17901474-T-C P5_Prx A*
20663576-C-T 18501690-C-T P4_Prx A*A*
22265456-G-C 20103570-G-C DYZ19 A*A*
24292450-G-A 22146303-G-A P3_t1 A*A*
24296964-C-G 22150817-C-G P3_t1 A*A*
25945244-A-G 23799097-A-G P1_Y1 A*A*
26251739-G-A 24105592-G-A P1_Y1 A*A*
28816637-T-A 26670490-T-A A*A*
19666989-C-A 17555109-C-A P5_Prx A*
19776688-G-A 17664808-G-A P5_Prx A*
20129686-T-C 18017806-T-C P5_Dst A*
25591760-G-C 23445613-G-C P1_gr1 A*
25619964-G-A 23473817-G-A P1_gr1 A*
56831885-T-A A*
22443926-G-T 20282040-G-T BY219307 DYZ19 **+
19117668-G-GT 17005788-G-GT 9×T++
22483420-A-T 20321534-A-T BY15823 DYZ19 +
10651453-C-A FT225501 +
9978594-C-A 10140985-C-A FT44693 Y+**
2706346-T-C 2838305-T-C BY183890 YY++
3714794-C-T 3846753-C-T BY183902 ++
4353775-G-C 4485734-G-C FT7430 +**
6930929-C-G 7062888-C-G BY183915 YY++
7626989-C-A 7758948-C-A BY183946 YY++
7816088-C-G 7948047-C-G BY183959 YY++
8105117-G-A 8237076-G-A BY183972 YY++
8644100-C-T 8776059-C-T BY184008 YY++
8778698-A-G 8910657-A-G BY184012 YY++
13649243-G-A 11493567-G-A BY210582 ++
14008219-T-C 11887513-T-C BY184052 YY++
15223203-T-A 13111289-T-A BY184088 Y++
15912848-TTATC-T 13800968-TTATC-T ++
16596373-G-A 14484493-G-A BY184126 YY++
16851501-C-T 14739621-C-T BY184137 YY++
17329595-AG-A 15217715-AG-A ++
17810804-A-AT 15698924-A-AT ***+
18794727-C-T 16682847-C-T BY184194 YY++
19537761-G-C 17425881-G-C FT10571 YY+**
21192016-A-G 19030130-A-G BY184229 YY++
21457111-G-T 19295225-G-T YY+**
21569114-C-G 19407228-C-G BY184245 YY++
21809720-A-C 19647834-A-C FT127377 YY+**
22184315-C-T 20022429-C-T BY184263 YY++
22228484-T-G 20066598-T-G BY213199 DYZ19 ++
22270883-A-C 20108997-A-C BY215084 DYZ19 **+
22588202-C-T 20426316-C-T BY184268 YY++
22683496-A-G 20521610-A-G FT127454 YY+**
22711009-T-G 20549123-T-G BY184274 YY++
23528176-T-C 21366290-T-C BY184305 YY++
23801500-G-A 21639614-G-A BY184317 Y++
28802936-A-C 26656789-A-C BY227361 ++
2977024-A-G 3108983-A-G FT6819 +
3375447-T-A 3507406-T-A FT6992 +
3427612-CAACAA-C 3559571-CAACAA-C +
3497712-C-T 3629671-C-T FT7037 +
3845141-G-T 3977100-G-T FT100171 +
4191031-G-A 4322990-G-A FT125741 +
4347310-A-T 4479269-A-T FT125785 +
4450811-T-C 4582770-T-C FT125808 +
4799979-G-T 4931938-G-T FT125879 +
5159019-G-A 5290978-G-A FT125974 +
5373540-T-C 5505499-T-C FT126028 +
5639390-G-C 5771349-G-C FT126109 +
7086300-A-G 7218259-A-G FT8394 Y+
13892342-C-T 11771636-C-T FT9042 Y+
14376621-G-T 12255917-G-T FT126696 YY+
17778713-G-C 15666833-G-C FT10098 Y+
17956037-C-T 15844157-C-T FT127104 YY+
19297177-C-T 17185297-C-T FT10491 Y+
21543699-G-A 19381813-G-A FT10719 Y+
22856375-T-C 20694489-T-C FT127474 Y+
22298793-T-C 20136907-T-C DYZ19 ****
14107470-C-T 11986764-C-T FT9151 Y*
22346607-T-C 20184721-T-C A4156 DYZ19 **
5434003-A-T 5565962-A-T 8×AT**
9211388-C-A 9373779-C-A **
10019659-C-A 10182050-C-A **
14284534-C-A 12163828-C-A FGC66702 **
56835950-AC-A **
13695497-G-T 11539821-G-T **
21149582-G-T 18987696-G-T 27×T**
56832088-T-A **
15572586-GA-G 13460706-GA-G 9×A**
11014419-C-T **
22122999-C-A 19961113-C-A **
15677933-C-A 13566053-C-A 21×A**
10864685-A-T **
10815145-A-T **
13258704-C-A 11103028-C-A **
10655103-C-A **
14614481-C-A 12502679-C-A **
13730270-G-T 11574594-G-T **
13730271-A-T 11574595-A-T **
11014402-C-T **
10994157-C-T **
10866960-C-T **
7138392-C-A 7270351-C-A **
16064-T-G **
3275768-C-A 3407727-C-A **
10657326-A-T **
12450522-CTTTT-C 41×T**
16091086-C-A 13979206-C-A **
15375991-C-CT 13264111-C-CT 8×T**
14239189-C-A 12118483-C-A **
23579421-C-A 21417535-C-A **
14743154-CAAAAAAA-C 12631222-CAAAAAAA-C 19×A**
7541224-C-A 7673183-C-A **
18072653-C-A 15960773-C-A **
6682106-C-A 6814065-C-A **
4244829-C-A 4376788-C-A **
19060201-C-A 16948321-C-A **
10821877-C-T **
4208337-C-A 4340296-C-A **
56835930-A-G **
17014794-C-A 14902914-C-A **
5864652-C-G 5996611-C-G **
23825772-AAAT-A 21663886-AAAT-A **
22027641-C-A 19865755-C-A **
26908692-C-A 24762545-C-A P1_r3 **
18812215-C-A 16700335-C-A **
14367892-G-T 12247188-G-T FT138407 **
19258960-C-A 17147080-C-A **
13940898-G-A 11820192-G-A **
23205378-C-A 21043492-C-A **
5367780-G-T 5499739-G-T FT145354 **
28711651-C-A 26565504-C-A **
14354947-C-A 12234242-C-A **
22268521-A-G 20106635-A-G DYZ19 **
9771940-C-CA 9934331-C-CA 18×T**
11643813-G-GGGTTT **
16827567-C-A 14715687-C-A **
17498979-C-A 15387099-C-A **
16041901-G-T 13930021-G-T **
10777883-C-A **
10682509-T-TTTCACTTCAG **
7243793-C-A 7375752-C-A **
9089117-C-A 9251508-C-A **
14592088-C-A 12480288-C-A **
22165201-TCAAAA-T 20003315-TCAAAA-T **
19609457-G-T 17497577-G-T P5_Prx **
15178281-C-A 13066367-C-A **
20570257-C-A 18408371-C-A P5_Dst **
2693305-T-G 2825264-T-G **
8052388-C-A 8184347-C-A **
10941819-C-A **
13975979-C-A 11855273-C-A **
10992850-T-A **
22659524-C-A 20497638-C-A **
9730624-T-C 9893015-T-C IR3_Prx **
14151664-C-A 12030958-C-A **
18707253-C-A 16595373-C-A **
27931415-T-TC 25785268-T-TC P1_Y2 **
10866267-C-T **
2693325-T-G 2825284-T-G **
2833326-C-A 2965285-C-A **
2848464-C-A 2980423-C-A **
3254089-C-A 3386048-C-A **
5852137-C-A 5984096-C-A **
5910462-C-A 6042421-C-A **
7923689-A-G 8055648-A-G **
8379460-C-T 8511419-C-T **
9047040-C-G 9209431-C-G **
10029954-C-A 10192345-C-A **
10033328-G-T 10195719-G-T **
10655093-C-T **
10657336-A-T **
10686593-T-G **
10766956-C-T **
10766959-A-C **
10821899-C-CCCCAA **
10866951-T-A **
10992282-A-C **
11014378-A-ATTT **
11014379-C-CAA **
11014388-A-T **
11014396-C-G **
11014425-T-C **
11014442-C-CTCTCT **
13214941-T-C 11059265-T-C **
13328865-C-A 11173189-C-A **
13394720-G-A 11239044-G-A ****
13453155-A-AATATT 11297479-A-AATATT **
13456238-C-T 11300562-C-T **
13456273-C-A 11300597-C-A **
13467220-C-G 11311544-C-G **
13467221-A-T 11311545-A-T **
13467222-C-G 11311546-C-G **
13594240-C-T 11438564-C-T **
13708535-G-T 11552859-G-T **
13711478-C-G 11555802-C-G ****
14151548-A-G 12030842-A-G **
14232784-T-G 12112078-T-G **
14284482-C-A 12163776-C-A **
14539399-C-A 12427600-C-A **
14711645-C-A 12599712-C-A **
14780835-C-CA 12668905-C-CA **
15114045-C-A 13002132-C-A **
15252009-A-C 13140095-A-C **
15280870-G-A 13168969-G-A **
15379729-C-A 13267849-C-A **
15468193-G-T 13356313-G-T **
15475274-C-A 13363394-C-A **
15593233-C-A 13481353-C-A **
15593643-AT-A 13481763-AT-A 9×T**
15932360-G-A 13820480-G-A **
16037341-C-A 13925461-C-A FTB36776 **
16422951-G-T 14311071-G-T **
16932135-C-A 14820255-C-A **
17385297-G-A 15273417-G-A **
17703312-C-T 15591432-C-T **
17933835-C-A 15821955-C-A **
18174781-G-T 16062901-G-T **
18401535-A-G 16289655-A-G P6_Gap **
18738706-A-G 16626826-A-G **
18895292-G-T 16783412-G-T **
19412932-G-A 17301052-G-A **
19933797-A-T 17821917-A-T P5_Prx **
20025482-TCCCCC-T 17913602-TCCCCC-T P5_Prx 14×C**
20081568-A-AC 17969688-A-AC P5_Dst **
21234699-T-C 19072813-T-C **
21238698-T-A 19076812-T-A **
21316807-C-A 19154921-C-A **
21473785-T-G 19311899-T-G **
21838991-AC-A 19677105-AC-A **
21974684-C-A 19812798-C-A **
22147415-G-A 19985529-G-A **
22218856-T-G 20056970-T-G DYZ19 **
22282522-T-A 20120636-T-A DYZ19 **
22292085-G-A 20130199-G-A DYZ19 **
22292101-T-G 20130215-T-G DYZ19 **
22578334-T-C 20416448-T-C **
23052627-C-A 20890741-C-A **
23373222-C-A 21211336-C-A **
23397224-C-A 21235338-C-A **
24512271-C-A 22366124-C-A **
26010332-ATG-A 23864185-ATG-A P1_Y1 **
26409345-G-T 24263198-G-T P1_Y1 **
26463142-C-A 24316995-C-A P1_Y1 **
56828321-T-G **
56831685-C-CCACTA **
56833334-T-G **
23557-C-A **
5674044-T-A 5806003-T-A **
6592337-T-A 6724296-T-A **
13566943-A-G 11411267-A-G **
14673352-A-G 12561418-A-G FT346401 **
16688231-A-G 14576351-A-G **
25578672-T-C 23432525-T-C P1_gr1 **
27568474-GT-G 25422327-GT-G P1_Y2 **
27876826-TG-T 25730679-TG-T P1_Y2 **
27978663-A-G 25832516-A-G P1_Y2 **
22445562-C-G 20283676-C-G ZS3166 DYZ19 ***
59020712-C-T 56874565-C-T ***
14910798-AT-A,ATT 12798865-AT-A,ATT 21×T***
16749725-GTTTT-G 14637845-GTTTT-G 16×T***
22793190-C-A 20631304-C-A ***
17680077-CTT-C,CT 15568197-CTT-C,CT 17×T***
13907915-C-A 11787209-C-A ***
22783159-CAAA-C,CA 20621273-CAAA-C,CA 17×A***
21201472-C-A 19039586-C-A ***
15011349-C-A 12899437-C-A ***
22804720-C-A 20642834-C-A ***
3385383-C-A 3517342-C-A ***
6000835-A-G 6132794-A-G ***
7078615-C-A 7210574-C-A ***
7487260-T-C 7619219-T-C IR1_L ***
8750726-A-G 8882685-A-G ***
13194497-C-A 11038821-C-A FT440458 ***
13255064-C-T 11099388-C-T ***
14273305-G-T 12152599-G-T ***
14714535-C-A 12602602-C-A ***
14816722-G-A 12704793-G-A ***
15158564-C-A 13046650-C-A ***
18262020-A-G 16150140-A-G ***
18589671-G-A 16477791-G-A FTB72372 ***
18592167-CA-C,CAA 16480287-CA-C,CAA 18×A***
19106398-G-A 16994518-G-A ***
19529604-A-G 17417724-A-G ***
21885001-C-A 19723115-C-A ***
7164467-CAAA-C,CAA 7296426-CAAA-C,CAA 24×A***
13446545-CA-C,CG 11290869-CA-C,CG ***
13477285-C-G 11321609-C-G ***
14900644-ATTT-A,ATT 12788711-ATTT-A,ATT 27×T***
19267272-T-C 17155392-T-C FGC51600 ***
21177103-AG-A 19015217-AG-A ***
22263018-A-G 20101132-A-G DYZ19 ***
22437831-A-G 20275945-A-G DYZ19 ***
22551637-A-AATC 20389751-A-AATC ***

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.