Tree Position

R-M269 > L23 > Z2103 > Z2106 > Z2108 > Exact position not yet finalized.

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
NA20866
2845853-T-A 2977812-T-A YY+
15637883-T-C 13526003-T-C CTS4424 Y+
14418140-GTATATATATATGTATATATATA-G 12297437-G-. +
9940864-A-AAT 10103255-A-AAT +
15226328-T-C 13114414-T-C CTS3849 Y+
15226331-A-G 13114417-A-G S4628 Y+
15226338-G-A 13114424-G-A S4630 Y+
28784428-T-A 26638281-T-A +
28549779-C-G 26403632-C-G CTS12255 +
28549787-G-A 26403640-G-A CTS12256 +
58827056-T-A 56763815-A-T +
7717630-C-CT 7849589-C-CT +
18465469-G-A 16353589-G-A P6_Dst 26×A+
17802196-AG-A 15690316-AG-A +
13254790-C-G 11099114-C-G +
16679088-C-T 14567208-C-T FT261094 YY+
13221734-A-G 11066058-A-G +
25201091-A-AAAGG 23054944-A-AAAGG g1 15×AAGG+
28779887-A-G 26633740-A-G CTS13014 +
14747534-A-AAAT 12635603-A-AAAT 12×AAT+
28794922-A-G 26648775-A-G +
58881878-C-T 56708993-G-A +
58881886-G-C 56708985-C-G +
22297138-A-G 20135252-A-G Z3476 DYZ19 +
22297125-T-A 20135239-T-A Z3475 DYZ19 +
22344875-C-T 20182989-C-T DYZ19 +
22344868-T-C 20182982-T-C DYZ19 +
22344873-C-T 20182987-C-T DYZ19 +
22344872-A-G 20182986-A-G DYZ19 +
22520816-G-A 20358930-G-A Y+
58909135-A-G 56681736-T-C +
9300228-A-T 9462619-A-T Y+
14696025-G-A 12584091-G-A YY+
8125058-AAGAG-A 8257017-AAGAG-A +
58820506-G-A 56770365-C-T +
28693905-A-G 26547758-A-G CTS12758 +
22443006-T-A 20281120-T-A ZS3148 DYZ19 +
6120273-A-G 6252232-A-G +
4824672-T-G 4956631-T-G +
2845850-G-A 2977809-G-A YY+
5666004-T-C 5797963-T-C +
22715168-G-A 20553282-G-A YY+
28534967-A-T 26388820-A-T +
3144936-C-T 3276895-C-T +
22461796-T-G 20299910-T-G BY1282BY11430 DYZ19 +
7165327-C-T 7297286-C-T YY+
28534973-A-T 26388826-A-T +
9645653-C-T 9808044-C-T IR3_Prx 20×T+
13271775-TAAAAAA-T 11116099-TAAAAAA-T 12×A+
6093482-GT-G 6225441-GT-G +
16612844-T-G 14500964-T-G YY+
2812773-TA-T 2944732-TA-T +
2841103-A-T 2973062-A-T YY+
3017529-G-A 3149488-G-A +
3170806-A-G 3302765-A-G FGC81629 +
3174369-C-T 3306328-C-T +
3174374-C-T 3306333-C-T 18×T+
3640728-CCTT-C 3772687-CCTT-C +
4015733-G-A 4147692-G-A +
4525670-G-A 4657629-G-A +
4773481-C-T 4905440-C-T 25×T+
4788859-C-T 4920818-C-T +
4789132-A-G 4921091-A-G +
4789135-A-T 4921094-A-T FT4075 9×T+
4824715-G-A 4956674-G-A +
4903585-CG-C 5035544-CG-C +
4965210-G-A 5097169-G-A +
4965215-T-A 5097174-T-A +
5398982-A-G 5530941-A-G +
5409734-TTC-T 5541693-TTC-T +
5557272-G-A 5689231-G-A +
5799828-C-A 5931787-C-A +
5799829-T-A 5931788-T-A +
6088926-A-AT 6220885-A-AT +
6413520-G-A 6545479-G-A +
6413826-C-T 6545785-C-T +
6634247-A-C 6766206-A-C YY+
6698845-G-T 6830804-G-T YY+
6784519-T-G 6916478-T-G YY+
6867680-G-T 6999639-G-T YY18×T+
7028566-T-G 7160525-T-G Y+
7075264-T-G 7207223-T-G YY+
7117600-ATT-A 7249559-ATT-A 9×T+
7179734-G-GTTT 7311693-G-GTTT 25×T+
7518485-G-A 7650444-G-A Y+
7534405-TG-T 7666364-TG-T +
7723829-GAAGAAAAGAAAAGAA-G 7855788-GAAGAAAAGAAAAGAA-G 12×AAGAA+
8528914-AAG-A 8660873-AAG-A +
8535201-C-T 8667160-C-T YY+
8776546-G-T 8908505-G-T YY+
8835627-A-C 8967586-A-C YY+
9385719-GC-G 9548110-GC-G +
9732895-C-A 9895286-C-A IR3_Prx 20×A+
9931698-G-A 10094089-G-A Y+
9931731-C-A 10094122-C-A Y+
9931759-C-T 10094150-C-T Y+
9948701-T-G 10111092-T-G Y+
9948717-C-T 10111108-C-T Y+
9960293-T-C 10122684-T-C Y+
10020201-C-CA 10182592-C-CA +
13222660-G-T 11066984-G-T +
13240635-T-A 11084959-T-A +
13279552-G-T 11123876-G-T +
13279556-T-C 11123880-T-C +
13292656-T-C 11136980-T-C +
13335488-A-G 11179812-A-G +
13362379-AG-A 11206703-AG-A +
13388418-G-C 11232742-G-C +
13388421-T-G 11232745-T-G +
13414799-T-C 11259123-T-C +
13544738-T-C 11389062-T-C +
13553223-A-G 11397547-A-G +
13570928-T-C 11415252-T-C Z9001 +
13621297-G-C 11465621-G-C +
13743966-C-T 11588290-C-T +
13847227-T-TGGCAA 11726521-T-TGGCAA +
14101742-T-A 11981036-T-A YY+
14200750-A-AT 12080044-A-AT +
14245290-T-G 12124584-T-G YY+
14795080-C-T 12683151-C-T FT335774 Y24×T+
14989218-T-TAAAAAA 12877284-TAAAAAAAAAAAAA-T 27×A+
15051878-A-C 12939969-A-C YY+
15084465-TC-T 12972555-TC-T +
15128119-GC-G 13016206-GC-G +
15604383-C-A 13492503-C-A YY+
16314126-A-C 14202246-A-C YY+
17093182-A-AAT 14981302-A-AAT 8×AT+
17823738-T-G 15711858-T-G M3952 Y+
17828099-G-T 15716219-G-T Y+
17998060-G-GT 15886180-G-GT P7_Gap +
17998354-G-A 15886474-G-A P7_Gap Y+
18036535-A-G 15924655-A-G YY+
18925761-A-T 16813881-A-T YY+
20470606-C-A 18308720-C-A P5_Dst +
21242232-A-C 19080346-A-C Y+
21251811-C-CT 19089925-C-CT +
21919420-TC-T 19757534-TC-T +
21919421-C-T 19757535-C-T Z29822 YY+
22048245-AT-A 19886359-AT-A +
22048246-TC-T 19886360-TC-T +
22048521-T-A 19886635-T-A YY+
22127995-TGG-T 19966109-TGG-T +
22165200-C-CAA 20003314-C-CAA +
22269999-A-C 20108113-A-C DYZ19 +
22270000-G-T 20108114-G-T DYZ19 +
22294894-C-T 20133008-C-T DYZ19 +
22468346-A-G 20306460-A-G FGC10948 DYZ19 +
22793746-A-C 20631860-A-C YY+
23505158-C-A 21343272-C-A YY20×A+
23505522-A-G 21343636-A-G YY+
23518998-C-A 21357112-C-A Y+
23747205-C-CTTT 21585319-C-CTTT 29×T+
23819106-G-T 21657220-G-T M1973 Y+
24205509-TGTGC-T 22059362-TGTGC-T P3_b1 +
28533758-T-G 26387611-T-G Y+
28642807-CAG-C 26496660-CAG-C +
28698742-G-A 26552595-G-A +
28698745-T-C 26552598-T-C +
28698750-C-T 26552603-C-T +
58867724-C-T 56723147-G-A +
7235831-G-GTT 7367790-G-GTT 29×T+
2999695-T-C 3131654-T-C FT315696 +
3812743-A-C 3944702-A-C FGC61022 +
4074715-C-G 4206674-C-G FT319434 +
4726127-C-A 4858086-C-A +
4729883-C-T 4861842-C-T FT321580 +
5385213-A-T 5517172-A-T +
5667760-G-C 5799719-G-C +
5993613-G-C 6125572-G-C FT325754 +
6444869-CAT-C 6576828-CAT-C +
6656306-T-C 6788265-T-C Z3942 YY+
6688782-C-A 6820741-C-A M11026 YY+
6698844-TG-T 6830803-TG-T +
6910685-C-G 7042644-C-G FT289241 YY+
6960657-GCT-G 7092616-GCT-G +
7055173-G-T 7187132-G-T YY+
7295295-A-G 7427254-A-G FT289343 YY+
8368390-T-A 8500349-T-A FT289661 YY+
8464498-G-T 8596457-G-T FT232961 YY+
8682335-A-T 8814294-A-T FT289776 YY+
9944624-G-A 10107015-G-A Y+
10034433-T-G 10196824-T-G Y+
13128506-C-A 10617992-C-A +
13194230-T-C 11038554-T-C +
13342153-G-C 11186477-G-C +
13386715-G-A 11231039-G-A +
13402082-G-A 11246406-G-A +
13533787-G-T 11378111-G-T +
13544735-A-C 11389059-A-C +
13692100-TG-T 11536424-TG-T +
13696256-A-G 11540580-A-G +
14027755-ATG-A 11907049-ATG-A +
14109351-G-T 11988645-G-T PH918 YY+
14319617-GTA-G 12198911-GTA-G +
14342982-C-G 12222277-C-G PH1170 YY+
15030310-T-C 12918398-T-C FT290379 YY+
15066559-G-C 12954650-G-C FT290389 YY+
15257256-T-A 13145340-T-A YY+
15656167-G-T 13544287-G-T FT290546 YY+
15764528-T-C 13652648-T-C FT290581 YY+
15904169-AC-A 13792289-AC-A +
16271806-GGA-G 14159926-GGA-G +
16599025-C-T 14487145-C-T YY+
16599038-G-T 14487158-G-T YY+
16864951-G-T 14753071-G-T YY+
17130284-G-T 15018404-G-T FT290986 YY+
17568845-T-G 15456965-T-G SK2087 YY+
17737632-AG-A 15625752-AG-A +
17945274-T-A 15833394-T-A Z20886 YY+
18057296-A-T 15945416-A-T FT291292 Y+
18098184-T-C 15986304-T-C FT291312 YY+
18443538-C-T 16331658-C-T P6_Dst +
18548898-G-A 16437018-G-A FT205181 Y+
18672746-T-A 16560866-T-A FGC15771 YY+
19123837-T-C 17011957-T-C FT291598 YY+
19277232-A-C 17165352-A-C FT291649 YY+
21090948-C-T 18929062-C-T BY130359 YY+
21193035-C-T 19031149-C-T FT291823 YY+
21602216-T-G 19440330-T-G FT292019 Y+
21825099-C-A 19663213-C-A YY15×A+
21948682-A-G 19786796-A-G FT292137 YY+
22420116-G-A 20258230-G-A BY217793 DYZ19 +
22843185-T-C 20681299-T-C FT292349 YY+
22973850-G-T 20811964-G-T F13611 YY+
22999618-T-C 20837732-T-C FT292386 YY+
23208492-C-T 21046606-C-T Y29874BY19553 A16656 Y+
23525998-A-G 21364112-A-G FT292572 YY+
23841266-C-T 21679380-C-T FT292640 Y+
28501767-A-G 26355620-A-G +
28642788-CCT-C 26496641-CCT-C 8×CT+

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.