Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > ZZ12 > ZZ51 > DF83 > Z2563 > Z2564 > S4240 > Y15924 > A11787

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
37299
20216091-C-T 18054205-C-T P5_Dst A+
20616338-C-T 18454452-C-T BY246 P4_Prx A*
17987634-T-A 15875754-T-A P7_Prx YA*
18293317-T-G 16181437-T-G P6_Prx A*
19587589-G-A 17475709-G-A P5_Prx YA*
19669719-G-A 17557839-G-A P5_Prx A*
19963686-G-A 17851806-G-A P5_Prx A*
22305357-A-C 20143471-A-C DYZ19 A*
23174232-G-C 21012346-G-C YA*
25891920-C-T 23745773-C-T P1_Y1 A*
25956597-G-GT 23810450-G-GT P1_Y1 A*
8041118-C-G 8173077-C-G BY49881 YY+
8866241-C-T 8998200-C-T BY49902 Y+
9931863-C-T 10094254-C-T BY49920 Y+
13669180-AGGAAT-A 11513504-AGGAAT-A 5×GGAAT+
15344248-AC-A 13232367-AC-A +
15517937-C-T 13406057-C-T BY102170 YY+
16626167-C-A 14514287-C-A BY49994 YY+
17344834-A-T 15232954-A-T BY50002 YY+
17362194-A-G 15250314-A-G BY114182 YY+
17438683-T-A 15326803-T-A BY114801 YY+
17624232-C-A 15512352-C-A BY116227 YY+
17744926-A-G 15633046-A-G BY50015 YY+
17987024-C-T 15875144-C-T BY50022 P7_Prx Y+
18716214-C-T 16604334-C-T BY123363 YY+
19279794-G-A 17167914-G-A BY50048 YY+
21627431-G-A 19465545-G-A BY134309 YY+
21627898-G-A 19466012-G-A BY134315 YY+
21659778-G-A 19497892-G-A BY50068 YY+
22139049-A-T 19977163-A-T BY50073 YY+
22470149-T-C 20308263-T-C BY36289 DYZ19 +
22475651-T-G 20313765-T-G BY50105 DYZ19 +
22297995-T-A 20136109-T-A BY177551 DYZ19 *
13141809-C-T 10631295-C-T **
7143549-C-T 7275508-C-T PF2848 CTS1010 **
13362307-C-A 11206631-C-A **
13362318-C-T 11206642-C-T **
16928919-C-A 14817039-C-A ZS913 **
18388396-C-A 16276516-C-A PF919 P6_Gap **
6869549-A-G 7001508-A-G **
13486589-C-T 11330913-C-T **
7162110-G-A 7294069-G-A **
10833381-C-A **
9602757-A-C 9765148-A-C IR3_Prx **
8020246-C-A 8152205-C-A **
19126402-C-A 17014522-C-A **
11030264-T-TG **
11030266-CA-C **
11031710-C-A **
10755649-C-T **
11031725-C-A **
11027060-ATTCCT-A **
27886998-GCA-G 25740851-GCA-G P1_Y2 9×CA**
22729431-C-A 20567545-C-A **
11007535-T-C **
10873312-C-G **
7424053-C-A 7556012-C-A **
10971241-A-T **
19746889-GT-G 17635009-GT-G P5_Prx **
17657331-TA-T 15545451-TA-T 10×A**
10655148-C-T **
10655149-C-A **
10782883-CTCCATTCCATTCCATTCCATTCCATTCCATTCCATTCCAT-C **
23633361-C-CT 21471475-C-CT 9×T**
10946581-T-TACAAC **
10755609-A-T **
10841028-A-T **
28772277-C-A 26626130-C-A **
16413680-C-A 14301800-C-A **
10771673-C-A **
10841041-C-T **
19477749-C-A 17365869-C-A **
10793676-A-T **
3728778-G-T 3860737-G-T **
6425663-C-A 6557622-C-A **
22489461-C-A 20327575-C-A DYZ19 **
8974230-G-T 9136621-G-T **
16514538-C-A 14402658-C-A **
13975989-C-A 11855283-C-A FT304233 **
13215958-C-A 11060282-C-A **
7143961-C-A 7275920-C-A **
22295634-C-A 20133748-C-A DYZ19 **
4293515-G-T 4425474-G-T **
14970245-C-A 12858320-C-A **
10959023-T-A **
8341758-C-A 8473717-C-A **
11007519-A-T **
11007530-T-C **
20094661-GT-G 17982781-GT-G P5_Dst **
14985092-C-A 12873160-C-A **
9522631-C-A 9685022-C-A **
10932975-C-A **
10691515-C-A **
11648069-A-T FT450036 **
8264477-C-A 8396436-C-A **
15325211-C-A 13213329-C-A **
10755644-C-T **
22159367-C-A 19997481-C-A **
14588894-C-A 12477094-C-A **
10667953-C-A **
11007212-C-A **
11649578-C-A **
56876194-C-A **
10932967-C-A **
10932972-C-T **
10932978-T-C **
14589830-C-A 12478030-C-A **
14385579-G-T 12264875-G-T **
5842430-C-A 5974389-C-A **
17159008-G-A 15047128-G-A Y98346 **
23552728-TAC-T 21390842-TAC-T **
16286514-C-A 14174634-C-A **
17033674-C-A 14921794-C-A **
7374275-G-T 7506234-G-T **
14658160-C-T 12546225-C-T **
9519786-C-A 9682177-C-A **
18716042-C-A 16604162-C-A **
13290090-C-A 11134414-C-A **
11007542-C-T **
14880485-C-A 12768555-C-A **
10874182-G-T **
7656796-C-A 7788755-C-A **
18088255-C-A 15976375-C-A FT181337 **
19275146-C-A 17163266-C-A **
14184348-C-A 12063642-C-A **
24244660-G-T 22098513-G-T P3_b1 **
14519697-C-A 12407898-C-A **
14453709-G-T 12332982-G-T 18×A**
10976157-T-C **
9602650-T-G 9765041-T-G IR3_Prx **
15474915-C-T 13363035-C-T **
14189437-C-A 12068731-C-A **
17597506-GA-G 15485626-GA-G 10×A**
3286831-C-A 3418790-C-A **
10631260-C-A **
7428234-A-C 7560193-A-C **
14412882-C-A 12292179-C-A **
6832074-C-A 6964033-C-A **
10990505-C-A **
14216414-C-A 12095708-C-A **
11648065-T-G FT450035 **
2665355-G-A 2797314-G-A **
2666609-C-G 2798568-C-G **
2666613-C-T 2798572-C-T **
2708192-G-T 2840151-G-T **
3258893-C-A 3390852-C-A **
3301258-TACAC-T 3433217-TACAC-T 15×AC**
3942860-G-T 4074819-G-T **
4150448-C-A 4282407-C-A **
4471535-C-A 4603494-C-A **
4935965-A-G 5067924-A-G **
5180187-G-A 5312146-G-A **
5207272-C-A 5339231-C-A **
5249284-T-A 5381243-T-A **
5249615-C-A 5381574-C-A **
5362657-C-A 5494616-C-A **
5459629-C-A 5591588-C-A **
5785734-G-T 5917693-G-T **
5861213-T-G 5993172-T-G **
5956898-A-C 6088857-A-C **
6274210-T-A 6406169-T-A IR3_Dst **
6274248-T-A 6406207-T-A IR3_Dst **
6478995-C-A 6610954-C-A **
6651769-C-A 6783728-C-A **
6919924-C-A 7051883-C-A **
7080246-C-A 7212205-C-A **
7145628-A-C 7277587-A-C **
7162111-G-T 7294070-G-T **
7162117-T-C 7294076-T-C **
7201629-C-A 7333588-C-A **
7216702-C-T 7348661-C-T **
7386748-C-A 7518707-C-A **
7608476-T-G 7740435-T-G **
7781006-C-A 7912965-C-A **
8268945-C-A 8400904-C-A **
8649466-G-T 8781425-G-T **
9126730-A-C **
9007864-A-C 9170255-A-C **
9117243-G-T 9279634-G-T **
9602716-T-A 9765107-T-A IR3_Prx **
9764301-G-GAA 9926692-G-GAA 12×A**
9852914-AAAGGAAGGAAGGAAGGAAGGAAGGAAGG-A 10015305-AAAGGAAGGAAGGAAGGAAGGAAGGAAGG-A 17×AAGG**
9973214-G-A 10135605-G-A **
10626461-A-T **
10631229-C-A **
10631284-C-T **
10645904-T-TCCACTCCTCTTGATG **
10651697-T-C **
10653111-TC-T **
10667492-C-A **
10755671-C-T **
10777045-CTCTAT-C **
10777860-C-A **
10797002-C-A **
10809303-C-A **
10809346-TCC-T **
10839896-C-G **
10852110-T-C **
10865388-A-T **
10902648-G-T **
10906869-AG-A **
10921651-T-G **
10962600-C-AA **
10968157-C-A **
10969141-C-A **
10969341-G-T **
10994796-C-A **
11007499-AC-A **
11007504-T-TATCACA **
11014802-G-T **
11028015-C-A **
13199337-C-A 11043661-C-A **
13234597-T-G 11078921-T-G **
13262979-T-G 11107303-T-G **
13294658-A-C 11138982-A-C **
13294672-T-G 11138996-T-G **
13514892-T-G 11359216-T-G **
13582626-A-C 11426950-A-C **
13644059-T-A 11488383-T-A **
14037999-T-G 11917293-T-G **
14102531-G-C 11981825-G-C **
14217946-C-G 12097240-C-G **
14324942-C-A 12204236-C-A **
14342504-A-G 12221799-A-G **
14369758-G-T 12249054-G-T **
14372884-C-CA 12252180-C-CA 9×A**
14386577-G-A 12265873-G-A FT138414 **
14452343-G-T 12331616-G-T **
14483822-C-T 12363091-C-T BY176762 **
14483829-T-G 12363098-T-G BY176764 **
14483834-C-T 12363103-C-T BY176765 **
14485554-C-A 12364823-C-A **
14741584-A-C 12629652-A-C **
14866240-T-C 12754310-T-C **
14938392-C-A 12826467-C-A **
14962295-T-C 12850370-T-C **
14966503-T-TA 12854578-T-TA **
14994346-C-T 12882431-C-T **
15051340-C-A 12939431-C-A **
15051349-T-G 12939440-T-G **
15051352-A-T 12939443-A-T **
15276859-A-C 13164948-A-C **
15340541-T-G 13228660-T-G **
15366124-G-T 13254244-G-T **
15449892-C-CTTT 13338012-C-CTTT 21×T**
15468663-G-T 13356783-G-T **
15722712-T-G 13610832-T-G **
15964804-G-T 13852924-G-T **
16046166-A-G 13934286-A-G BY176884 **
16096470-A-G 13984590-A-G **
16370901-T-G 14259021-T-G **
16435857-C-A 14323977-C-A **
16442056-T-G 14330176-T-G **
16745396-T-C 14633516-T-C **
16745396-T-TG 14633516-T-TG **
16747641-T-TG 14635761-T-TG **
16863762-A-T 14751882-A-T **
16863766-C-T 14751886-C-T **
16866123-T-C 14754243-T-C **
16880817-G-T 14768937-G-T **
16886728-C-A 14774848-C-A **
16922585-GT-G 14810705-GT-G 8×T**
16932125-T-G 14820245-T-G **
17315490-T-A 15203610-T-A **
17320593-C-A 15208713-C-A **
17382052-A-T 15270172-A-T **
17452750-C-A 15340870-C-A **
17459526-C-A 15347646-C-A **
17737966-A-C 15626086-A-C **
17760385-C-A 15648505-C-A **
17961029-A-C 15849149-A-C **
18021316-T-C 15909436-T-C **
18600129-C-A 16488249-C-A **
18604969-C-A 16493089-C-A **
18631955-C-A 16520075-C-A **
18648681-C-A 16536801-C-A **
18688447-G-A 16576567-G-A **
18769481-GT-G 16657601-GT-G **
18892922-C-A 16781042-C-A **
19014009-G-T 16902129-G-T **
19078423-G-A 16966543-G-A FT170283 **
19247211-C-A 17135331-C-A **
19467001-G-A 17355121-G-A FT140246 **
19467060-T-G 17355180-T-G **
19516001-GA-G 17404121-GA-G 9×A**
19721248-T-G 17609368-T-G P5_Prx **
19721263-G-A 17609383-G-A P5_Prx **
19901170-A-C 17789290-A-C P5_Prx **
20479068-G-T 18317182-G-T P5_Dst **
20987262-T-G 18825376-T-G P4_Dst **
21082123-C-A 18920237-C-A **
21135199-T-G 18973313-T-G **
21144026-A-G 18982140-A-G **
21522735-A-AG 19360849-A-AG **
21563186-C-A 19401300-C-A **
21604017-A-C 19442131-A-C **
21625329-C-A 19463443-C-A **
21714654-C-T 19552768-C-T **
21714659-G-A 19552773-G-A **
21714660-A-G 19552774-A-G **
21769894-C-A 19608008-C-A **
22023410-T-A 19861524-T-A **
22089821-C-A 19927935-C-A **
22176742-A-C 20014856-A-C **
22429823-T-G 20267937-T-G DYZ19 **
22511362-A-C 20349476-A-C DYZ19 **
22646528-T-G 20484642-T-G **
22743406-T-C 20581520-T-C **
22749359-A-C 20587473-A-C **
22774713-C-A 20612827-C-A FTB49572 **
22776425-C-A 20614539-C-A **
22851201-C-T 20689315-C-T **
22851308-C-A 20689422-C-A **
23005311-C-A 20843425-C-A **
23005353-G-A 20843467-G-A **
23536969-A-G 21375083-A-G BY177447 **
23561644-AC-A 21399758-AC-A **
23572778-C-A 21410892-C-A **
23623235-G-A 21461349-G-A **
23655407-T-C 21493521-T-C **
24344976-G-T 22198829-G-T P3_t1 **
24344985-G-T 22198838-G-T P3_t1 **
24345028-G-T 22198881-G-T P3_t1 **
24480035-AAAT-A 22333888-AAAT-A **
25507684-T-A 23361537-T-A P1_gr1 **
26060163-C-A 23914016-C-A P1_Y1 **
27777782-T-G 25631635-T-G P1_Y2 **
27777815-A-T 25631668-A-T P1_Y2 **
28581161-G-T 26435014-G-T **
28581179-T-G 26435032-T-G **
28590956-A-G 26444809-A-G BY177501 **
56728420-A-T **
58972938-C-G 56826791-C-G ***
19218453-C-A 17106573-C-A Z13801 ***
13461108-A-T 11305432-A-T ***
13453363-C-T 11297687-C-T ***
18401930-C-A 16290050-C-A P6_Gap ***
18644311-TA-T 16532431-TA-T 9×A***
11025142-C-A ***
10971239-C-A ***
10971254-C-A ***
10971255-C-CGGATG ***
8751697-C-A 8883656-C-A ***
10823794-C-A ***
3131062-C-A 3263021-C-A ***
10671195-C-T ***
23515162-A-ATT 21353276-A-ATT 14×T***
10666883-C-A ***
22297932-G-A,T 20136046-G-A,T DYZ19 ***
10888658-C-T ***
10888698-C-T ***
13453370-A-C 11297694-A-C ***
10965591-T-C ***
17673156-GA-G 15561276-GA-G ***
10787379-C-A ***
13843992-A-T 11723286-A-T ***
3436171-CTT-C,CT 3568130-CTT-C,CT 15×T***
56826806-C-G ***
11038010-C-A ***
15658794-C-A 13546914-C-A ***
13457417-C-G 11301741-C-G ***
21890760-C-A 19728874-C-A ***
28673500-C-A 26527353-C-A ***
22127491-C-A 19965605-C-A ***
21700001-C-A 19538115-C-A ***
19260399-C-A 17148519-C-A ***
14718799-C-A 12606867-C-A ***
10670988-TTCTTTTCCAC-T,TTCTTTTCCAA ***
8398537-TAAA-T 8530496-TAAA-T 13×A***
17919847-G-T 15807967-G-T ***
13463573-C-A 11307897-C-A ***
17475927-C-A 15364047-C-A ***
15616484-C-A 13504604-C-A ***
16829471-C-A 14717591-C-A ***
6816032-C-A 6947991-C-A ***
7333542-C-A 7465501-C-A ***
7670631-C-A 7802590-C-A ***
7732227-C-CT 7864186-C-CT 9×T***
7858731-C-A 7990690-C-A ***
8179904-G-T 8311863-G-T ***
8535370-CA-C,CAA 8667329-CA-C,CAA 11×A***
9369438-C-A 9531829-C-A ***
9895712-T-A 10058103-T-A ***
9900594-G-T 10062985-G-T ***
9936383-T-C 10098774-T-C ***
9952258-C-A 10114649-C-A ***
10804779-C-A,CCTTTA ***
10845707-C-G,T ***
10888677-C-CCATTA ***
10952529-C-A ***
10978816-T-C ***
13197187-A-G 11041511-A-G ***
13453160-A-G 11297484-A-G ***
11666446-TGGAATGG-T ***
14356890-CT-C,CTTT 12236185-CT-C,CTTT 17×T***
14420077-C-A 12299352-C-A ***
14471559-C-A 12350828-C-A ***
14577421-C-A 12465621-C-A ***
14727426-C-A 12615494-C-A ***
14810090-C-A 12698161-C-A ***
15237990-C-A 13126076-C-A ***
15331657-C-A 13219775-C-A ***
15379668-G-A 13267788-G-A ***
15744320-C-A 13632440-C-A ***
16219361-C-A 14107481-C-A ***
17367889-G-T 15256009-G-T ***
17637190-C-A 15525310-C-A ***
17976729-C-A 15864849-C-A ***
18025349-C-A 15913469-C-A ***
18106289-G-A 15994409-G-A ***
18244042-C-A 16132162-C-A ***
18385064-C-A 16273184-C-A P6_Gap ***
18655571-G-T 16543691-G-T ***
18806034-C-CTCTT 16694154-C-CTCTT ***
18808099-T-C 16696219-T-C ***
18903687-C-A 16791807-C-A ***
18916530-GAAA-G,GAAAA 16804650-GAAA-G,GAAAA 12×A***
19067329-C-A 16955449-C-A ***
19149498-A-G 17037618-A-G ***
19294802-T-C 17182922-T-C ***
19345480-C-A 17233600-C-A ***
21073532-TA-T 18911646-TA-T 8×A***
21193442-A-G 19031556-A-G ***
21436739-C-A 19274853-C-A ***
21845800-C-A 19683914-C-A ***
21902786-C-T 19740900-C-T BY180823 ***
21976376-G-A 19814490-G-A ***
22071493-C-A 19909607-C-A ***
22575334-C-A 20413448-C-A ***
22581184-C-A 20419298-C-A ***
22687223-C-A 20525337-C-A ***
22747730-TTA-T,TTTA 20585844-TTA-T,TTTA ***
22868285-TAAAAA-T,TAAAA 20706399-TAAAAA-T,TAAAA 27×A***
23155636-C-A 20993750-C-A ***
23256172-C-A 21094286-C-A ***
23351118-TTTTG-T 21189232-TTTTG-T 4×TTTG***
23397282-G-A 21235396-G-A ***
23440846-T-C 21278960-T-C ***
24109164-C-T 21963017-C-T P3_b1 ***
26179678-G-T 24033531-G-T P1_Y1 ***
27618117-T-C 25471970-T-C P1_Y2 ***
28531607-GCAAAA-G 26385460-GCAAAA-G 4×CAAAA***
28687533-C-A 26541386-C-A ***
56828258-CCATTCCATGT-C,CCATTC ***

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.