Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > Z39589 > Z251/S470 > Z16943 > Z16944 > Z16946 > L555 > FGC34569

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
280156
FTDNA
280156
BigY2
280156
21748908-T-C A+
59009242-C-CA 56863095-C-CA 9×AA*
28817889-G-C 26671742-G-C A*A*
13451228-C-G 11295552-C-G A*
7583420-G-A 7715379-G-A BY3708 YY+++
14768577-C-T 12656646-C-T BY3663 YY**++
19048311-T-C 16936431-T-C BY3678 YY++
19201889-C-G 17090009-C-G BY3680 YY+++
4604291-C-T 4736250-C-T FT11934 +**
10684993-ACTCCACTCCT-A +**
14283823-C-A 12163117-C-A FT236565 Y+**
5178687-G-T 5310646-G-T FT232851 +
22302516-A-C 20140630-A-C DYZ19 ******
19646268-A-G 17534388-A-G P5_Prx 9×T**
13269586-AAC-A 11113910-AAC-A **
3889019-CTT-C 4020978-CTT-C 15×T**
16323901-G-A 14212021-G-A CTS5502 **
17505225-A-C 15393345-A-C ****
13700176-G-C 11544500-G-C BY48176 DYZ17 **
17265604-T-G 15153724-T-G **
22228129-G-T 20066243-G-T DYZ19 **
20892284-CA-C 18730398-CA-C P4_Dst 9×A**
19187566-C-A 17075686-C-A **
4505388-C-T 4637347-C-T **
9398032-C-A 9560423-C-A FTB41279 **
14774192-T-G 12662261-T-G BY97513 **
14430526-C-CA 12309799-C-CA 9×A**
27808432-G-A 25662285-G-A P1_Y2 **
16602638-C-CTT 14490758-C-CTT 15×T**
19415594-C-A 17303714-C-A **
19892869-T-TC 17780989-T-TC P5_Prx **
10677548-ATTCAC-A **
5667050-G-T 5799009-G-T **
6092429-C-A 6224388-C-A **
13726258-T-A 11570582-T-A DYZ17 **
10677705-C-A **
10763008-T-C **
10998693-G-T **
13919226-G-GA 11798520-G-GA **
13394752-C-A 11239076-C-A **
22774941-C-A 20613055-C-A **
7322945-A-G 7454904-A-G **
11644275-C-A FT449754 DYZ17 **
10969446-C-G **
15785963-C-A 13674083-C-A **
2773427-A-C 2905386-A-C **
2803373-C-A 2935332-C-A **
2814865-C-A 2946824-C-A **
2855457-A-C 2987416-A-C **
2855460-C-T 2987419-C-T **
2866027-T-A 2997986-T-A **
3011410-C-A 3143369-C-A **
3178954-A-G 3310913-A-G **
3271390-C-A 3403349-C-A **
3275526-G-T 3407485-G-T **
3328296-T-A 3460255-T-A **
3407846-A-C 3539805-A-C **
3497986-G-T 3629945-G-T FT74506 **
3501186-C-A 3633145-C-A FT85594 **
3600637-C-A 3732596-C-A **
3640523-C-T 3772482-C-T **
3804330-C-A 3936289-C-A **
3810922-G-T 3942881-G-T **
3815169-G-T 3947128-G-T **
3852325-T-C 3984284-T-C **
3853336-C-A 3985295-C-A **
3858647-C-A 3990606-C-A **
3987935-CT-C 4119894-CT-C **
4002243-A-G 4134202-A-G **
4007502-G-A 4139461-G-A **
4093132-A-T 4225091-A-T **
4094212-A-G 4226171-A-G **
4175014-C-A 4306973-C-A **
4242104-G-T 4374063-G-T **
4244457-C-A 4376416-C-A **
4262495-C-A 4394454-C-A **
4302395-C-G 4434354-C-G **
4370865-C-A 4502824-C-A **
4460917-T-A 4592876-T-A **
4475468-G-T 4607427-G-T **
4505396-C-T 4637355-C-T **
4585321-A-T 4717280-A-T **
4787092-C-A 4919051-C-A **
4863418-T-C 4995377-T-C **
4907834-C-A 5039793-C-A **
4907949-C-A 5039908-C-A **
4925237-C-T 5057196-C-T **
4943406-C-A 5075365-C-A **
4968051-C-A 5100010-C-A **
4969117-A-G 5101076-A-G **
5207072-TA-T 5339031-TA-T **
5228049-ATTGTATAGGCCATGATGATT-A 5360008-ATTGTATAGGCCATGATGATT-A **
5230443-C-A 5362402-C-A **
5334935-C-A 5466894-C-A **
5510786-C-A 5642745-C-A **
5645200-C-A 5777159-C-A **
5667076-C-G 5799035-C-G **
5824199-A-T 5956158-A-T **
5928981-C-A 6060940-C-A **
6037897-C-A 6169856-C-A **
6085342-A-G 6217301-A-G **
6091116-C-A 6223075-C-A **
6240907-A-ATC 6372866-A-ATC IR3_Dst 12×T**
6465533-A-T 6597492-A-T **
6475508-C-A 6607467-C-A **
6654351-G-T 6786310-G-T **
6692972-C-A 6824931-C-A **
6816619-G-A 6948578-G-A **
6915835-C-G 7047794-C-G **
6915850-G-C 7047809-G-C **
6998248-C-A 7130207-C-A **
7042736-T-G 7174695-T-G **
7186233-C-A 7318192-C-A **
7210026-C-A 7341985-C-A **
7348715-A-G 7480674-A-G **
7409619-G-A 7541578-G-A **
7414262-A-G 7546221-A-G **
7414272-C-T 7546231-C-T **
7420667-CTT-C 7552626-CTT-C 12×T**
7422407-C-A 7554366-C-A **
7428265-C-A 7560224-C-A **
7590539-G-A 7722498-G-A **
7758949-A-G 7890908-A-G **
7783050-GA-G 7915009-GA-G **
7862165-C-A 7994124-C-A **
8167743-C-T 8299702-C-T **
8167752-C-T 8299711-C-T **
8293363-C-A 8425322-C-A **
8296795-T-C 8428754-T-C **
8699634-C-A 8831593-C-A **
8736676-C-A 8868635-C-A **
8799604-C-A 8931563-C-A **
8912992-G-A 9044951-G-A **
9117420-G-T **
8988276-G-A 9150667-G-A **
9139989-A-G 9302380-A-G **
9163032-C-A 9325423-C-A **
9403060-G-T 9565451-G-T **
9675807-C-A 9838198-C-A IR3_Prx **
9932812-C-T 10095203-C-T **
9962663-T-C 10125054-T-C **
10032764-C-A 10195155-C-A **
10046152-A-G 10208543-A-G **
10046161-A-G 10208552-A-G **
10057110-C-A 10219501-C-A **
10073143-C-A 10235534-C-A **
10653341-C-A **
10655664-G-T **
10663306-A-C **
10673937-C-G **
10691098-C-A **
10746353-A-G **
10748646-C-A **
10761843-A-C **
10763017-A-T **
10763020-CCACTG-C **
10767571-C-A **
10773117-T-C **
10776222-T-C **
10781999-C-A **
10782024-C-T **
10784366-C-A **
10785928-C-A **
10807903-C-T **
10808725-C-A **
10808997-C-G **
10809018-C-T **
10809019-A-T **
10818271-C-A **
10827714-C-A **
10839660-T-C **
10860046-C-A **
10870214-C-T **
10876988-C-T **
10877033-G-T **
10877466-T-C **
10880857-C-A **
10884011-A-C **
10884012-T-C **
10893435-C-T **
10903787-C-T **
10934531-C-T **
10941458-A-C **
10941459-C-T **
10947664-T-TTCTTC **
10951131-C-A **
10954514-T-A **
10958141-T-A **
10967762-C-A **
10969465-T-C **
10970918-C-A **
10973894-A-C **
10976514-C-A **
10999779-C-A **
11012297-G-GCATTCCATTC *****
11013708-C-A **
11024391-G-C **
11031936-T-C **
11037192-C-A **
13283020-C-A 11127344-C-A **
13295355-C-A 11139679-C-A **
13326145-C-A 11170469-C-A **
13329114-G-A 11173438-G-A **
13586072-G-A 11430396-G-A **
13588310-C-A 11432634-C-A **
13589406-G-T 11433730-G-T **
13597242-C-A 11441566-C-A **
13605128-C-A 11449452-C-A **
13605884-G-T 11450208-G-T **
13605896-G-T 11450220-G-T **
11647770-G-T DYZ17 **
11656604-G-A DYZ17 **
11668308-G-T DYZ17 **
11669156-G-A DYZ17 **
13809546-A-G 11688840-A-G DYZ17 **
13854576-T-C 11733870-T-C DYZ17 **
13857841-G-T 11737135-G-T DYZ17 **
13858508-T-C 11737802-T-C DYZ17 **
13875012-T-C 11754306-T-C **
13888562-A-G 11767856-A-G **
13894989-G-A 11774283-G-A **
13902128-C-A 11781422-C-A **
13946103-C-A 11825397-C-A **
13952509-C-A 11831803-C-A **
13958464-T-G 11837758-T-G **
13963139-A-T 11842433-A-T **
13981678-C-A 11860972-C-A **
14017511-C-A 11896805-C-A **
14053141-C-A 11932435-C-A **
14067202-C-A 11946496-C-A **
14123944-T-C 12003238-T-C **
14180604-T-C 12059898-T-C **
14247366-C-G 12126660-C-G **
14285921-T-C 12165215-T-C **
14344870-C-A 12224165-C-A **
14355247-C-A 12234542-C-A **
14423899-AAAAT-A 12303174-AAAAT-A 4×AAAT**
14490358-C-A 12369627-C-A **
14501317-C-A 12389522-C-A **
14567942-C-A 12456142-C-A **
14607847-C-T 12496049-C-T **
14661124-G-A 12549189-G-A **
14661147-C-G 12549212-C-G **
14661155-G-T 12549220-G-T **
14661179-G-T 12549244-G-T **
14661181-T-C 12549246-T-C **
14716554-G-T 12604622-G-T **
14757863-T-C 12645932-T-C **
14784954-G-A 12673024-G-A **
14784975-C-A 12673045-C-A **
14823639-C-A 12711706-C-A **
15080841-T-C 12968931-T-C **
15080855-T-C 12968945-T-C **
15080870-A-T 12968960-A-T FTA28099 **
15081469-C-A 12969559-C-A **
15109646-C-A 12997733-C-A **
15179669-C-A 13067755-C-A **
15278891-C-A 13166990-C-A **
15365115-C-A 13253235-C-A **
15404277-C-A 13292397-C-A **
15420104-C-A 13308224-C-A **
15793033-G-T 13681153-G-T **
15943121-C-A 13831241-C-A **
15987931-T-C 13876051-T-C **
16001141-C-A 13889261-C-A **
16035810-T-A 13923930-T-A **
16056968-C-A 13945088-C-A **
16071107-G-T 13959227-G-T **
16428966-T-C 14317086-T-C **
16490228-G-T 14378348-G-T **
16605459-C-A 14493579-C-A **
16704372-T-C 14592492-T-C **
16705656-T-C 14593776-T-C **
16968225-C-A 14856345-C-A **
16980031-A-T 14868151-A-T **
16994138-C-A 14882258-C-A **
17196545-C-T 15084665-C-T Y52902 12×GAAG**
17490055-C-A 15378175-C-A **
17505226-T-A 15393346-T-A **
17505230-G-C 15393350-G-C **
17505231-T-C 15393351-T-C **
17505235-A-G 15393355-A-G **
17505241-A-T 15393361-A-T **
17505258-G-A 15393378-G-A FT80901 **
17505265-T-C 15393385-T-C **
17638591-C-A 15526711-C-A **
17854913-G-T 15743033-G-T **
18153686-T-C 16041806-T-C **
18158545-T-C 16046665-T-C **
18183316-C-A 16071436-C-A **
18190405-C-A 16078525-C-A **
18292867-C-A 16180987-C-A P6_Prx **
18297876-C-CCT 16185996-C-CCT P6_Prx 31×T**
18412132-C-A 16300252-C-A P6_Gap **
18465274-T-A 16353394-T-A P6_Dst **
18543223-G-A 16431343-G-A **
18653008-C-A 16541128-C-A **
18707926-C-A 16596046-C-A **
18779263-G-T 16667383-G-T **
18855766-C-A 16743886-C-A **
19073127-C-A 16961247-C-A **
19187548-C-T 17075668-C-T **
19187571-TC-T 17075691-TC-T **
19187607-C-A 17075727-C-A **
19187623-C-T 17075743-C-T **
19249510-G-T 17137630-G-T **
19385251-C-A 17273371-C-A **
19459926-A-G 17348046-A-G **
19561433-G-C 17449553-G-C **
19561441-C-A 17449561-C-A **
19646269-T-TG 17534389-T-TG P5_Prx **
19677825-C-A 17565945-C-A P5_Prx **
20560684-A-T 18398798-A-T P5_Dst **
20646084-A-G 18484198-A-G P4_Prx **
21118736-C-A 18956850-C-A **
21409723-C-A 19247837-C-A **
21497135-AT-A 19335249-AT-A **
21584033-T-A 19422147-T-A **
21698370-T-C 19536484-T-C **
21747911-T-G 19586025-T-G **
21833791-C-G 19671905-C-G **
22172407-G-T 20010521-G-T **
22228114-C-G 20066228-C-G DYZ19 **
22228150-A-C 20066264-A-C DYZ19 **
22295014-T-G 20133128-T-G DYZ19 **
22295052-A-C 20133166-A-C DYZ19 **
22295053-G-T 20133167-G-T DYZ19 **
22325388-C-T 20163502-C-T DYZ19 **
22777001-G-T 20615115-G-T **
23007980-G-T 20846094-G-T **
23065587-T-C 20903701-T-C **
23198048-C-A 21036162-C-A **
23199976-C-A 21038090-C-A **
23200897-C-A 21039011-C-A **
23277072-A-G 21115186-A-G FT26547 **
23290245-A-C 21128359-A-C **
23290248-T-G 21128362-T-G **
23355328-A-C 21193442-A-C **
23355806-G-T 21193920-G-T **
23372152-C-A 21210266-C-A **
23373158-C-A 21211272-C-A **
23398406-G-A 21236520-G-A **
23455118-C-T 21293232-C-T **
23460240-C-A 21298354-C-A **
23465350-A-G 21303464-A-G **
23516647-C-A 21354761-C-A **
23563947-C-A 21402061-C-A **
23633361-C-CT 21471475-C-CT 9×T**
23773775-A-G 21611889-A-G **
23786494-C-A 21624608-C-A **
23825737-G-A 21663851-G-A **
23831360-C-T 21669474-C-T **
23831371-C-G 21669485-C-G **
23831380-G-A 21669494-G-A **
23831414-C-T 21669528-C-T **
23831415-C-G 21669529-C-G **
21754222-G-T **
24221237-C-A 22075090-C-A P3_b1 **
24885604-G-T 22739457-G-T g1 **
25587244-T-TA 23441097-T-TA P1_gr1 **
26026541-G-T 23880394-G-T P1_Y1 **
26043753-A-G 23897606-A-G P1_Y1 **
26114478-A-AG 23968331-A-AG P1_Y1 **
26314909-C-A 24168762-C-A P1_Y1 **
27127581-T-C 24981434-T-C P1_g3 **
27127602-A-ATTTCTTTC 24981455-A-ATTTCTTTC P1_g3 14×TTTC**
27467083-G-T 25320936-G-T P1_Y2 **
27815618-G-T 25669471-G-T P1_Y2 **
27815642-G-T 25669495-G-T P1_Y2 **
27861529-A-G 25715382-A-G P1_Y2 **
28467423-C-A 26321276-C-A **
28478288-C-A 26332141-C-A **
28500988-A-G 26354841-A-G **
28534539-C-A 26388392-C-A **
28537960-C-A 26391813-C-A **
28585774-C-A 26439627-C-A **
28622163-A-T 26476016-A-T **
28627831-A-G 26481684-A-G **
28646187-G-T 26500040-G-T **
56835066-C-CTCCACTCCGT **
56845268-C-T **
56861164-TAA-T **
56880161-G-T **
56880219-G-T **
13726288-A-T 11570612-A-T DYZ17 **
20253870-T-TTC 18091984-T-TTC P5_Dst **
3416330-A-G 3548289-A-G **
3692192-G-A 3824151-G-A **
4687773-A-G 4819732-A-G **
5090562-G-A 5222521-G-A **
8057167-GTGTATATATA-G 8189126-GTGTATATATA-G **
8095319-T-C 8227278-T-C **
13713287-T-C 11557611-T-C DYZ17 **
14101375-TCTTC-T 11980669-TCTTC-T **
12374418-G-A **
16943652-T-C 14831772-T-C **
17017344-T-C 14905464-T-C **
17124557-C-G 15012677-C-G **
18218954-A-T 16107074-A-T **
18847424-A-G 16735544-A-G **
20229254-GTT-G 18067368-GTT-G P5_Dst 15×T**
21276340-T-C 19114454-T-C **
22696122-G-A 20534236-G-A **
28563799-T-C 26417652-T-C **
9932635-C-T 10095026-C-T ***
21825099-C-CAA 19663213-C-CAA 15×A***
14101375-TCTTC-T,TCTT 11980669-TCTTC-T,TCTT ******
22292236-T-C 20130350-T-C DYZ19 ***
22336837-T-C 20174951-T-C DYZ19 ***
26194223-G-A 24048076-G-A P1_Y1 ***
58972510-C-T 56826363-C-T ***
13340628-A-T 11184952-A-T ***
13340634-G-A 11184958-G-A ***
10973608-G-A,C ***
21283370-G-A 19121484-G-A ***
21283373-T-C 19121487-T-C ***
21283374-G-C 19121488-G-C ***
24278183-C-CAAGA,CAAGAAAGA 22132036-C-CAAGA,CAAGAAAGA P3_b1 22×AAGA***
16679099-ATTTTT-A 14567219-ATTTTT-A 25×T***
4050106-A-G 4182065-A-G ***
7436393-C-A 7568352-C-A ***
7896813-C-T 8028772-C-T ***
7935855-TAAAAAA-T 8067814-TAAAAAA-T 22×A***
10778051-C-A ***
13478259-G-A,C 11322583-G-A,C ***
13488845-C-CCT 11333169-C-CCT ***
11649756-C-A DYZ17 ***
11649792-G-T DYZ17 ***
11676687-G-T DYZ17 ***
13857414-T-A 11736708-T-A DYZ17 ***
14226612-C-A 12105906-C-A ***
14735251-T-C 12623319-T-C ***
14880241-ATT-A,ATTT 12768311-ATT-A,ATTT 17×T***
15012296-CT-C,CTTTT 12900384-CT-C,CTTTT 17×T***
15770404-G-GTA 13658524-G-GTA ***
15870600-G-A 13758720-G-A ***
17375911-G-T 15264031-G-T ***
17549565-A-T 15437685-A-T ***
19187654-G-A 17075774-G-A ***
19463582-G-T 17351702-G-T ***
21283353-C-T 19121467-C-T ***
21283355-T-C 19121469-T-C ***
21283356-G-A 19121470-G-A ***
21283359-C-A 19121473-C-A ***
22810024-C-A 20648138-C-A ***
56742651-G-T ***
56827407-C-A ***
56858700-C-A ***
28548238-GA-G 26402091-GA-G 10×A***
22202931-TTTA-T 20041045-TTTA-T 5×TTA***
13340614-T-C 11184938-T-C ***
15048489-GTT-G,GTTT 12936580-GTT-G,GTTT 19×T***
10946792-C-T ***
13340598-G-A 11184922-G-A ***
13340609-A-T 11184933-A-T ***
13340610-G-A 11184934-G-A ***
19537901-CAAAA-C,CAAA 17426021-CAAAA-C,CAAA 17×A***
3474543-CA-C,CAA 3606502-CA-C,CAA 15×A***
3584978-C-T 3716937-C-T ***
3612080-T-C 3744039-T-C ***
4369363-TA-T 4501322-TA-T ***
4654796-C-T 4786755-C-T FT136179 ***
5999363-CAAAAAA-C 6131322-CAAAAAA-C 20×A***
6431004-A-G 6562963-A-G ***
6603638-G-T 6735597-G-T ***
7448653-A-C 7580612-A-C IR1_L ***
7501530-C-G 7633489-C-G IR1_L ***
7753312-T-C 7885271-T-C ***
9839545-CAAAA-C,CA 10001936-CAAAA-C,CA 23×A***
13512560-T-C 11356884-T-C ***
15340654-T-C 13228773-T-C ***
16356485-A-G 14244605-A-G ***
16503214-T-A 14391334-T-A ***
17960962-TA-T 15849082-TA-T ***
21960550-TAA-T 19798664-TAA-T ***
22698882-A-G 20536996-A-G ***

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.