Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > ZZ45 > Z36/S206 > BY9459

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 STRBigY2
N64186
18300004-G-T 16188124-G-T P6_Prx A*
19628300-G-A 17516420-G-A P5_Prx A*
20673182-C-T 18511296-C-T P4_Prx A*
20727849-G-A 18565963-G-A P4_Prx A*
22305281-C-T 20143395-C-T DYZ19 A*
24291612-G-A 22145465-G-A P3_t1 A*
25902414-T-C 23756267-T-C P1_Y1 A*
25909234-A-G 23763087-A-G P1_Y1 A*
25955300-G-A 23809153-G-A P1_Y1 A*
22478299-T-G 20316413-T-G BY223992 DYZ19 +
28784963-C-T 26638816-C-T BY17915 +
5412212-CTTTTCTTTT-C 5544171-CTTTTCTTTT-C +
5910881-G-T 6042840-G-T BY58948 +
7383092-C-A 7515051-C-A BY64871 YY+
7553300-C-G 7685259-C-G BY65857 YY+
7845870-C-T 7977829-C-T BY68166 YY+
8191732-AC-A 8323691-AC-A +
8222005-C-A 8353964-C-A BY70869 YY+
8248240-G-A 8380199-G-A BY71110 YY+
8513412-G-T 8645371-G-T BY73560 YY+
8555979-TTTTTGTTTTGTTTTG-T 8687938-TTTTTGTTTTGTTTTG-T 8×TTTTG+
8585670-G-A 8717629-G-A BY74266 YY+
8659942-A-T 8791901-A-T BY75017 YY+
9458977-A-T 9621368-A-T BY79545 YY+
9644022-T-C 9806413-T-C BY80323 IR3_Prx +
9954276-C-T 10116667-C-T BY82139 Y+
13813366-G-A 11692660-G-A BY90331 DYZ17 +
14084066-G-T 11963360-G-T BY92883 YY+
14136329-C-T 12015623-C-T BY93226 YY+
14168632-G-GA 12047926-G-GA +
15581947-A-T 13470067-A-T BY102667 YY+
15967813-C-A 13855933-C-A BY105189 YY+
16419147-T-C 14307267-T-C BY107670 YY+
16888481-G-T 14776601-G-T BY110848 YY+
17396818-T-C 15284938-T-C BY114433 YY+
17891762-G-T 15779882-G-T BY118177 YY+
17906834-A-T 15794954-A-T BY118317 YY+
18049365-G-A 15937485-G-A BY55027 YY+
18128731-G-A 16016851-G-A BY120317 YY+
18998379-T-C 16886499-T-C BY125376 YY+
19292286-C-A 17180406-C-A BY128022 YY+
21356835-C-A 19194949-C-A BY132303 YY+
21751679-G-C 19589793-G-C BY135178 YY+
22443776-G-A 20281890-G-A BY219276 DYZ19 +
22483810-G-T 20321924-G-T BY192366 DYZ19 +
22910067-A-G 20748181-A-G BY141624 YY+
24398029-A-G 22251882-A-G FGC73183 Y+
28797343-G-C 26651196-G-C BY55587 +
22253986-T-C 20092100-T-C DYZ19 *
22279320-C-T 20117434-C-T DYZ19 *
28809884-G-A 26663737-G-A *
28818594-C-T 26672447-C-T *
13929280-C-A 11808574-C-A FT335118 **
13962034-A-T 11841328-A-T **
9930409-G-T 10092800-G-T **
10840933-G-T **
11009861-G-T **
10783878-C-T **
28775324-C-A 26629177-C-A **
10657662-C-T **
10831603-C-G **
11001614-TGTTCC-T **
10869818-G-T **
10761055-T-G **
6514158-C-A 6646117-C-A **
23200804-C-A 21038918-C-A **
10761128-C-A **
6533003-G-T 6664962-G-T **
22297906-C-A 20136020-C-A DYZ19 **
18738223-C-A 16626343-C-A **
16017729-C-A 13905849-C-A **
10756671-C-A **
10756617-TCC-T **
7243242-C-A 7375201-C-A **
15832213-C-A 13720333-C-A **
10664630-T-A **
10976703-T-C **
3389298-C-A 3521257-C-A **
9507982-C-A 9670373-C-A 34×T**
15986635-G-A 13874755-G-A **
4788508-A-C 4920467-A-C **
28722467-C-A 26576320-C-A **
8216406-C-CTTT 8348365-C-CTTT 16×T**
9420391-C-A 9582782-C-A **
10751784-G-T **
14413098-C-A 12292395-C-A **
56884264-G-T **
14184471-T-C 12063765-T-C **
7362601-A-C 7494560-A-C **
10976715-C-T **
6479148-C-A 6611107-C-A **
22580068-CTTTT-C 20418182-CTTTT-C 19×T**
6478574-C-A 6610533-C-A **
10867956-G-T **
7098008-C-A 7229967-C-A **
10756621-T-TAC **
10657540-C-A **
10781274-CATTCTATTCT-C **
16745241-C-A 14633361-C-A **
7135363-C-A 7267322-C-A **
6832012-C-A 6963971-C-A **
3866031-C-A 3997990-C-A **
7443939-C-A 7575898-C-A **
22212213-C-A 20050327-C-A **
10769494-T-A **
13485631-G-T 11329955-G-T **
6666159-G-T 6798118-G-T **
2842245-G-T 2974204-G-T **
2853372-A-T 2985331-A-T **
3148089-T-A 3280048-T-A **
3343914-T-G 3475873-T-G **
3419677-C-A 3551636-C-A **
3464424-G-T 3596383-G-T **
3473185-C-A 3605144-C-A **
3492134-A-C 3624093-A-C **
3502398-C-A 3634357-C-A **
3659656-C-A 3791615-C-A **
3710830-C-A 3842789-C-A **
3786566-G-T 3918525-G-T **
3786570-C-A 3918529-C-A **
3865975-A-G 3997934-A-G **
3880045-C-A 4012004-C-A **
3884121-G-A 4016080-G-A **
3995248-A-G 4127207-A-G **
4003142-C-A 4135101-C-A **
4031397-C-A 4163356-C-A **
4101515-C-A 4233474-C-A **
4159128-G-T 4291087-G-T **
4163882-G-T 4295841-G-T **
4292804-C-A 4424763-C-A **
4367406-C-A 4499365-C-A **
4385861-C-A 4517820-C-A **
4432209-A-C 4564168-A-C **
4462337-G-T 4594296-G-T **
4504477-T-A 4636436-T-A **
4557310-C-A 4689269-C-A **
4788776-C-A 4920735-C-A **
4794375-T-A 4926334-T-A **
4952497-G-T 5084456-G-T **
4952514-G-T 5084473-G-T **
4985512-G-T 5117471-G-T **
5045960-C-A 5177919-C-A **
5148513-G-T 5280472-G-T **
5184090-C-A 5316049-C-A **
5194739-G-T 5326698-G-T **
5214317-C-A 5346276-C-A **
5296995-C-A 5428954-C-A **
5393639-C-A 5525598-C-A **
5405610-T-G 5537569-T-G **
5446465-C-A 5578424-C-A **
5471720-A-T 5603679-A-T FT114433 **
5503718-G-T 5635677-G-T **
5611959-G-T 5743918-G-T **
5664208-C-A 5796167-C-A **
5691687-G-C 5823646-G-C **
5730361-C-A 5862320-C-A **
5829895-T-G 5961854-T-G **
5932259-T-G 6064218-T-G **
5973824-C-G 6105783-C-G **
6097507-A-G 6229466-A-G **
6642916-C-A 6774875-C-A **
6726399-CACACCAGCATGGCACATGTATACAT-C 6858358-CACACCAGCATGGCACATGTATACAT-C **
6751198-G-T 6883157-G-T **
6862130-C-A 6994089-C-A **
7016911-C-A 7148870-C-A **
7135222-G-T 7267181-G-T **
7160899-T-TG 7292858-T-TG **
7221375-T-A 7353334-T-A **
7311788-C-A 7443747-C-A **
7362569-A-C 7494528-A-C **
7362591-T-A 7494550-T-A **
7409706-C-A 7541665-C-A **
7640981-TCCCACCTCAG-T 7772940-TCCCACCTCAG-T **
7925300-C-A 8057259-C-A **
8167033-G-T 8298992-G-T **
8273832-C-A 8405791-C-A **
8914671-C-A 9046630-C-A **
9056282-C-A **
9108265-G-T **
9040773-G-T 9203164-G-T **
9799450-G-T 9961841-G-T **
9926800-G-T 10089191-G-T **
9929556-G-T 10091947-G-T **
9930065-C-A 10092456-C-A **
9930367-G-C 10092758-G-C **
9945639-A-G 10108030-A-G **
9980001-C-A 10142392-C-A **
10646046-A-T **
10646050-CACCAT-C **
10660726-A-T **
10664622-C-G **
10664624-C-A **
10664627-A-C **
10664629-C-A **
10664668-T-C **
10667702-C-T **
10684193-C-A **
10691095-C-A **
10744197-T-A **
10746688-C-CACTGA **
10748321-C-A **
10759060-T-C **
10770102-A-T **
10772133-C-T **
10772137-G-A FT430526 **
10772149-TCCATTCCACG-T **
10772171-T-C **
10777690-C-A **
10782514-C-A **
10785372-C-T **
10793347-C-A FT431439 **
10796124-T-TTCCGC **
10797215-C-A **
10802083-T-A **
10808244-C-A **
10811079-G-T **
10813511-C-T FT432341 **
10829378-A-G **
10836701-T-A **
10844920-C-A **
10849020-T-C **
10851383-C-A **
10855961-C-A **
10856402-TTCACC-T **
10858485-T-A **
10864926-C-A **
10869858-A-ATTACC **
10869876-A-C **
10881869-C-A **
10887265-G-T **
10887409-ATTC-A **
10889087-G-T **
10900350-C-A **
10906879-G-A **
10907895-AT-A **
10939271-C-G **
10939283-G-T **
10939291-C-G **
10939308-A-T **
10939787-C-A **
10941288-G-T **
10942743-ACTCA-G **
10943919-C-A **
10944044-C-A **
10948482-A-T **
10951752-G-C **
10951755-C-T **
10972334-C-A **
10990073-T-A **
10997872-T-A **
10998033-T-A **
11001584-C-T **
11007023-C-A **
11009846-GC-G **
11013686-C-A **
11029727-C-A **
11033702-A-AC **
11033704-G-GGACA **
11033723-C-A **
11034283-C-G **
11034353-A-T **
13222517-AG-A 11066841-AG-A **
13236620-T-C 11080944-T-C **
13256104-T-G 11100428-T-G **
13262916-G-T 11107240-G-T **
13311024-C-A 11155348-C-A **
13363237-T-C 11207561-T-C **
13363336-C-A 11207660-C-A **
13505179-C-A 11349503-C-A **
13518489-A-G 11362813-A-G **
13558094-C-A 11402418-C-A **
13596978-C-A 11441302-C-A **
13726326-G-T 11570650-G-T DYZ17 **
11669200-T-G DYZ17 **
11669227-G-C DYZ17 **
11671058-A-G DYZ17 **
11673132-G-T DYZ17 **
13858121-G-T 11737415-G-T DYZ17 **
13858240-G-T 11737534-G-T DYZ17 **
13937164-C-A 11816458-C-A **
13954361-G-T 11833655-G-T **
14051809-TGAGGG-T 11931103-TGAGGG-T **
14074667-C-A 11953961-C-A **
14085914-C-A 11965208-C-A **
14142139-T-G 12021433-T-G **
14183495-G-A 12062789-G-A FT111226 **
14203378-C-A 12082672-C-A **
14240197-C-A 12119491-C-A **
14278391-G-T 12157685-G-T **
14343908-C-A 12223203-C-A **
14518459-C-A 12406660-C-A **
14697186-C-A 12585252-C-A **
14807301-A-T 12695372-A-T **
14961855-C-T 12849930-C-T **
14961920-G-T 12849995-G-T **
15092792-TA-T 12980880-TA-T **
15115657-G-T 13003744-G-T **
15116629-G-T 13004716-G-T **
15131998-C-A 13020085-C-A **
15333549-G-T 13221667-G-T **
15396979-G-T 13285099-G-T **
15400022-C-A 13288142-C-A **
15442525-A-C 13330645-A-C **
15452549-C-A 13340669-C-A **
15584866-C-T 13472986-C-T BY190780 **
15631949-G-C 13520069-G-C **
15684351-A-T 13572471-A-T **
15700401-A-T 13588521-A-T **
15728876-C-A 13616996-C-A **
15858265-C-A 13746385-C-A **
15937304-C-A 13825424-C-A **
15999789-G-T 13887909-G-T **
16008968-G-T 13897088-G-T **
16039015-G-T 13927135-G-T **
16052924-C-A 13941044-C-A **
16270605-T-G 14158725-T-G **
16270662-G-T 14158782-G-T **
16270677-A-C 14158797-A-C **
16272034-C-A 14160154-C-A **
16344510-C-A 14232630-C-A **
16437433-T-A 14325553-T-A **
16743028-C-A 14631148-C-A **
16933198-A-G 14821318-A-G **
16987901-G-C 14876021-G-C **
17100445-CA-C 14988565-CA-C **
17196519-A-T 15084639-A-T **
17213304-A-G 15101424-A-G **
17480175-T-A 15368295-T-A **
17545734-G-T 15433854-G-T **
17546179-C-A 15434299-C-A **
17589091-G-T 15477211-G-T **
17622602-A-T 15510722-A-T **
17739963-C-A 15628083-C-A FGC26948 **
17770252-C-T 15658372-C-T **
17788558-C-A 15676678-C-A **
17837881-C-A 15726001-C-A **
17966691-A-G 15854811-A-G **
18190398-C-A 16078518-C-A **
18378977-T-G 16267097-T-G P6_Prx **
18634857-C-A 16522977-C-A **
18869078-G-A 16757198-G-A **
18950565-A-T 16838685-A-T **
19065914-C-A 16954034-C-A **
19145474-C-A 17033594-C-A **
19204300-C-A 17092420-C-A **
19298710-G-T 17186830-G-T **
19330197-A-G 17218317-A-G **
19532846-C-A 17420966-C-A **
19873535-G-T 17761655-G-T P5_Prx **
20426352-A-AC 18264466-A-AC P5_Dst **
20446328-A-C 18284442-A-C P5_Dst **
20603899-G-C 18442013-G-C P5_Dst **
20732896-C-A 18571010-C-A P4_Prx **
20842520-A-G 18680634-A-G P4_Dst **
20842521-A-G 18680635-A-G P4_Dst **
21109427-G-T 18947541-G-T **
21234728-C-A 19072842-C-A **
21244034-G-A 19082148-G-A **
21246457-G-T 19084571-G-T **
21247176-C-A 19085290-C-A **
21272249-G-T 19110363-G-T **
21408874-A-C 19246988-A-C **
21408898-A-T 19247012-A-T **
21589042-A-C 19427156-A-C **
22010297-C-G 19848411-C-G **
22191684-G-A 20029798-G-A FT81010 **
22214844-C-A 20052958-C-A **
22766285-CA-C 20604399-CA-C 8×A**
22767306-A-T 20605420-A-T **
22767318-A-T 20605432-A-T **
22767328-C-A 20605442-C-A **
22767360-A-T 20605474-A-T **
22767362-T-G 20605476-T-G **
22876958-G-T 20715072-G-T **
22877002-A-T 20715116-A-T **
22988727-C-A 20826841-C-A **
23096975-G-C 20935089-G-C **
23184293-G-T 21022407-G-T **
23272347-T-G 21110461-T-G **
23333142-GT-G 21171256-GT-G **
23516660-G-T 21354774-G-T **
23652606-G-T 21490720-G-T **
23875404-C-T 21713518-C-T **
24278252-AAGAAAGAAAGAAAGAAAGAG-A 22132105-AAGAAAGAAAGAAAGAAAGAG-A P3_b1 **
24278388-G-T 22132241-G-T P3_b1 **
24512869-C-T 22366722-C-T **
25175689-C-T 23029542-C-T g1 **
25722674-C-A 23576527-C-A P1_b3 **
26544618-GATATAT-G 24398471-GATATAT-G P1_g2 14×AT**
27021885-G-T 24875738-G-T P1_r4 **
28432032-C-A 26285885-C-A P1_gr2 **
28472810-G-T 26326663-G-T **
28478357-T-A 26332210-T-A **
28495908-T-C 26349761-T-C **
28554976-G-T 26408829-G-T **
28555150-G-T 26409003-G-T **
28608392-C-A 26462245-C-A **
28628698-T-G 26482551-T-G **
28743769-A-C 26597622-A-C **
28761421-A-C 26615274-A-C **
28764273-T-A 26618126-T-A **
28764990-A-T 26618843-A-T **
28765017-A-T 26618870-A-T **
56707170-C-T **
56734767-G-A **
56851774-C-T **
56851951-C-A **
56867602-C-G **
24942-G-T **
13824882-AGGAAT-A 11704176-AGGAAT-A DYZ17 4×GGAAT***
9956364-TA-T,TAA 10118755-TA-T,TAA 16×A***
28621456-G-T 26475309-G-T ***
14717629-G-T 12605697-G-T ***
13468264-G-A 11312588-G-A ***
19449455-G-T 17337575-G-T ***
16194776-ATT-A 14082896-ATT-A 13×T***
56734825-G-T ***
14404829-C-A 12284126-C-A ***
56734807-A-G ***
22660643-C-A 20498757-C-A ***
3688182-G-T 3820141-G-T ***
3834012-C-A 3965971-C-A ***
7040598-G-T 7172557-G-T ***
7222234-G-T 7354193-G-T ***
8525367-C-A 8657326-C-A ***
8735007-C-A 8866966-C-A ***
10673941-TGCACC-ACC,T ***
10687162-C-A ***
10747879-C-A ***
10760693-C-A FTB74743 ***
10761904-C-A ***
10830108-C-A ***
10849744-C-A ***
10865820-CT-C,TC ***
10866832-C-A ***
10889724-C-A ***
10950302-C-A ***
10958432-G-T ***
10964341-G-T ***
10973608-G-A,T ***
10998379-T-C ***
11010691-C-T ***
11022113-CTCCATTCCATTCCATTCCATTCCAT-C ***
11037150-A-C,G ***
13321422-C-A 11165746-C-A ***
13349684-C-A 11194008-C-A ***
13445300-C-A 11289624-C-A ***
13720961-T-A 11565285-T-A DYZ17 ***
13896887-G-T 11776181-G-T ***
14720168-C-A 12608236-C-A ***
14819702-C-A 12707769-C-A ***
15690098-C-A 13578218-C-A ***
15975437-A-T 13863557-A-T ***
16631710-C-A 14519830-C-A ***
18610610-A-C 16498730-A-C ***
18993571-C-A 16881691-C-A ***
19412024-GAA-G 17300144-GAA-G ***
21394608-C-A 19232722-C-A ***
21446217-CTT-C,CT 19284331-CTT-C,CT 23×T***
23644168-G-A 21482282-G-A ***
27007835-C-T 24861688-C-T P1_r4 ***
28485885-G-A 26339738-G-A ***
28763474-C-A 26617327-C-A ***
56734832-A-G ***
56834632-TCAC-ACAC,T ***
56838280-C-A ***

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.