Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > L2/S139 > Z367/S255 > L20/S144 > BY5690

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 STRFTDNA
12148
BigY2
12148
28817051-C-A 26670904-C-A A*
28816599-G-T 26670452-G-T A*
22265974-G-C 20104088-G-C DYZ19 ***A*
19957540-G-C 17845660-G-C P5_Prx ***A*
13687812-G-T 11532136-G-T A*
28817003-G-T 26670856-G-T A*
22307632-T-A 20145746-T-A DYZ19 ***A*
22265699-G-A 20103813-G-A DYZ19 A*
22457913-C-T 20296027-C-T DYZ19 ++
13674616-T-A 11518940-T-A ++
13650614-G-T 11494938-G-T +
13690505-A-C 11534829-A-C +
18044409-T-C 15932529-T-C Y54107 YY++
9668795-C-T 9831186-C-T IR3_Prx +**
22477537-G-T 20315651-G-T DYZ19 ***+
6990224-A-C 7122183-A-C Y45549 YY++
22549385-C-T 20387499-C-T Y57923 YY++
23327541-G-A 21165655-G-A Y59043 YY++
23553719-C-T 21391833-C-T Y59334 YY++
8603556-G-A 8735515-G-A Y47618 YY++
7209064-C-T 7341023-C-T YY++
15034345-A-T 12922433-A-T A9992 FGC43070 YY++
14210841-G-A 12090135-G-A S15633 YY++
14429015-C-T 12308290-C-T Y49530 YY++
15491656-A-G 13379776-A-G Y50735 YY++
16234889-A-G 14123009-A-G Y51549 YY++
16504241-T-G 14392361-T-G Y51948 YY++
16861390-G-A 14749510-G-A Y52450 YY++
17616719-C-T 15504839-C-T BY3595 YY+
17904093-T-C 15792213-T-C FGC17867 YY+**
18093665-G-T 15981785-G-T Y54215 Y**+
22271336-C-T 20109450-C-T DYZ19 ++
19095298-AAGT-A 16983418-AAGT-A ++
19134930-C-T 17023050-C-T BY3598 YY++
19539505-T-C 17427625-T-C Y56043 YY+**
20105743-TATC-T 17993863-TATC-T P5_Dst +
21929819-T-G 19767933-T-G Y57400 YY++
23791936-C-T 21630050-C-T Y59551 Y++
21252749-G-A 19090863-G-A BY506 YY++
22825154-T-C 20663268-T-C YY+
22253799-G-A 20091913-G-A DYZ19 ****
22277216-T-C 20115330-T-C DYZ19 ****
20105743-TATC-T,TTATC 17993863-TATC-T,TTATC P5_Dst *
14566580-C-T 12454780-C-T **
14635689-T-C 12523758-T-C **
14602680-G-T 12490882-G-T **
14566600-C-T 12454800-C-T **
14566599-C-T 12454799-C-T **
14566592-G-A 12454792-G-A **
14566583-A-G 12454783-A-G **
14566578-A-G 12454778-A-G **
14566579-T-C 12454779-T-C **
14557800-A-C 12446001-A-C **
14557781-C-A 12445982-C-A **
15558177-C-A 13446297-C-A **
14557761-T-G 12445962-T-G **
14544118-T-C 12432319-T-C **
15616783-ATT-A 13504903-ATT-A **
14520762-C-A 12408963-C-A **
15619507-C-A 13507627-C-A **
14671558-A-G 12559624-A-G **
15364655-A-T 13252775-A-T **
14712189-C-T 12600256-C-T **
15020753-C-A 12908842-C-A **
15365956-G-T 13254076-G-T **
15264787-G-A 13152876-G-A **
15182962-C-A 13071048-C-A **
15150994-C-A 13039081-C-A **
15146359-T-C 13034446-T-C **
15124105-C-A 13012192-C-A **
15104855-C-A 12992943-C-A **
15059795-A-C 12947887-A-C **
14884663-C-A 12772729-C-A **
15352775-T-A 13240894-T-A **
14862987-G-T 12751053-G-T **
15411322-A-AC 13299442-A-AC **
14771266-G-T 12659335-G-T **
14769345-C-T 12657414-C-T Z30328 **
14735091-T-C 12623159-T-C **
15421305-C-A 13309425-C-A **
15475252-G-T 13363372-G-T **
14712198-C-G 12600265-C-G **
15504231-T-A 13392351-T-A **
56851073-C-A **
15688927-A-C 13577047-A-C **
17300744-C-G 15188864-C-G **
16707645-G-T 14595765-G-T **
16971272-C-T 14859392-C-T **
16999090-T-A 14887210-T-A **
17083010-CTTT-C 14971130-CTTT-C **
17083014-CT-C 14971134-CT-C **
17122190-G-C 15010310-G-C **
17122273-G-C 15010393-G-C **
17159008-G-A 15047128-G-A Y98346 **
17195069-T-G 15083189-T-G **
17255170-C-A 15143290-C-A **
17300591-TG-T 15188711-TG-T **
17377366-G-C 15265486-G-C **
16703718-T-G 14591838-T-G **
17475179-C-CAA 15363299-C-CAA **
17481221-T-A 15369341-T-A **
17486464-TG-T 15374584-TG-T **
17489698-C-A 15377818-C-A **
17500813-C-A 15388933-C-A **
17500820-G-C 15388940-G-C **
17500831-C-A 15388951-C-A **
17643838-G-T 15531958-G-T **
17737495-G-A 15625615-G-A **
17760423-C-A 15648543-C-A **
17789637-G-A 15677757-G-A **
17869734-G-A 15757854-G-A **
16704431-A-G 14592551-A-G **
16635827-C-G 14523947-C-G **
15735245-C-CT 13623365-C-CT 8×T**
16003248-T-G 13891368-T-G **
15773495-T-C 13661615-T-C **
15786513-C-A 13674633-C-A **
15818534-G-T 13706654-G-T **
15860323-T-G 13748443-T-G **
14493000-G-T 12381197-G-T **
15901295-C-A 13789415-C-A **
15916299-G-C 13804419-G-C **
15920583-A-C 13808703-A-C **
15941532-A-T 13829652-A-T **
15987279-C-A 13875399-C-A **
16001083-C-A 13889203-C-A **
16005301-G-T 13893421-G-T **
16623637-G-T 14511757-G-T **
16016936-GGTGC-G 13905056-GGTGC-G **
16033830-C-A 13921950-C-A **
16051227-G-GT 13939347-G-GT **
16071318-A-C 13959438-A-C **
16184409-G-A 14072529-G-A **
16277998-C-G 14166118-C-G **
16425463-C-A 14313583-C-A **
16465762-A-T 14353882-A-T **
16465818-C-A 14353938-C-A **
16528078-A-G 14416198-A-G **
16590659-A-ATCCT 14478779-A-ATCCT **
16623623-G-T 14511743-G-T **
14505224-C-A 12393429-C-A **
13987125-G-T 11866419-G-T ZS7829 **
14485403-C-A 12364672-C-A **
10954266-C-A **
10889558-C-T **
10890371-C-T **
10892191-C-A **
10898605-T-G **
10901943-G-T **
10906793-A-T **
10921619-T-G **
10927868-C-G **
10935676-C-A **
10947482-C-G **
10955291-C-CCCTAA **
10889524-C-A **
10955293-T-A **
10955308-T-TTGCAC **
10957849-A-G **
10959441-C-A **
10963093-G-T **
10969635-C-G **
10975075-G-T **
10979152-A-C **
10982038-T-G **
10982426-C-G **
10889551-G-A **
10868168-C-T **
10994858-C-A **
10851512-C-A **
10826148-T-C **
10826155-A-C **
10826292-G-T **
10831328-C-A **
10836974-C-A **
10837446-A-T **
10846185-C-G **
10846397-A-C **
10846552-A-C **
10849581-T-A **
10856058-C-T **
10863073-T-G **
10856060-A-C **
10856063-C-T **
10856097-T-C **
10856102-A-G **
10856103-T-C **
10856151-T-C **
10859708-T-C **
10859713-T-C **
10859718-T-C **
10863068-T-G **
10984869-C-A **
10997014-C-T **
14485361-A-C 12364630-A-C **
14182281-C-A 12061575-C-A **
13859423-T-TAGCAAAGAAC 11738717-T-TAGCAAAGAAC **
13860530-G-T 11739824-G-T **
13907802-CTGTGCA-C 11787096-CTGTGCA-C **
13974996-C-A 11854290-C-A **
13987116-G-T 11866410-G-T **
17934217-G-A 15822337-G-A **
13987136-A-G 11866430-A-G **
13987145-G-T 11866439-G-T **
14042644-G-C 11921938-G-C **
14115015-G-T 11994309-G-T **
14200431-A-G 12079725-A-G **
13859416-A-G 11738710-A-G **
14214301-C-T 12093595-C-T **
14245154-G-T 12124448-G-T **
14302463-C-A 12181757-C-A **
14352902-G-A 12232197-G-A **
14384917-A-G 12264213-A-G **
14409025-T-G 12288322-T-G **
14409027-A-AG 12288324-A-AG **
14483077-C-T 12362346-C-T **
14483102-T-G 12362371-T-G **
14483123-T-G 12362392-T-G **
13859420-G-A 11738714-G-A **
13858405-G-T 11737699-G-T **
10997427-C-A **
13355525-G-A 11199849-G-A **
11007839-T-A **
11011455-C-A **
11026647-T-C **
11026923-C-A **
11037460-C-A **
13223174-G-A 11067498-G-A **
13258455-C-A 11102779-C-A **
13287335-T-G 11131659-T-G **
13296097-A-G 11140421-A-G **
13313611-C-A 11157935-C-A **
13527668-C-A 11371992-C-A **
13858391-A-G 11737685-A-G **
13692773-A-C 11537097-A-C **
13692778-A-C 11537102-A-C **
13696135-G-C 11540459-G-C **
13710065-A-G 11554389-A-G **
13712346-T-G 11556670-T-G **
13715129-A-G 11559453-A-G **
11653316-G-T **
11664210-G-T **
11665864-G-T **
11667664-G-T **
17923131-G-A 15811251-G-A **
18749313-C-A 16637433-C-A **
17942270-AC-A 15830390-AC-A **
24263037-C-A 22116890-C-A P3_b1 **
23655448-C-A 21493562-C-A **
24050391-T-A 21904244-T-A P3_b1 **
24262954-A-C 22116807-A-C P3_b1 **
24262967-G-C 22116820-G-C P3_b1 **
24262968-G-C 22116821-G-C P3_b1 **
24262982-C-A 22116835-C-A P3_b1 **
24262994-C-A 22116847-C-A P3_b1 **
24263011-A-C 22116864-A-C P3_b1 **
24263030-G-C 22116883-G-C P3_b1 **
24359602-T-A 22213455-T-A **
23625462-C-A 21463576-C-A **
24359609-G-C 22213462-G-C **
24359615-T-A 22213468-T-A **
24363927-G-T 22217780-G-T **
24369594-C-A 22223447-C-A **
24407099-T-C 22260952-T-C **
24576088-A-AC 22429941-A-AC P3_t2 **
24618858-T-G 22472711-T-G P3_t2 **
24618867-T-TTCC 22472720-T-TTCC P3_t2 **
24618869-T-TCCCCCTG 22472722-T-TCCCCCTG P3_t2 **
24634071-A-C 22487924-A-C P3_t2 **
23655441-A-C 21493555-A-C **
23609434-C-T 21447548-C-T **
24672493-C-A 22526346-C-A P3_b2 **
22730447-C-A 20568561-C-A **
22169253-T-G 20007367-T-G **
22169268-C-G 20007382-C-G **
22236906-C-A 20075020-C-A DYZ19 **
22247370-C-A 20085484-C-A DYZ19 **
22256866-G-A 20094980-G-A DYZ19 **
22428932-GT-G 20267046-GT-G DYZ19 **
22580254-A-T 20418368-A-T **
22639313-A-C 20477427-A-C **
22639490-C-A 20477604-C-A **
22713907-T-C 20552021-T-C **
22766718-T-G 20604832-T-G **
23579216-T-G 21417330-T-G **
22954563-A-G 20792677-A-G **
22963565-T-C 20801679-T-C **
22970093-G-A 20808207-G-A **
23007702-G-T 20845816-G-T **
23047562-C-A 20885676-C-A **
23065708-C-T 20903822-C-T **
23065751-G-T 20903865-G-T **
23259167-A-G 21097281-A-G **
23355518-C-A 21193632-C-A **
23463326-C-A 21301440-C-A **
24672478-T-G 22526331-T-G P3_b2 **
24751744-C-A 22605597-C-A P3_b2 **
22063755-A-C 19901869-A-C **
28049624-T-TTGGGGG 25903477-T-TTGGGGG P1_Y2 **
27540972-C-CCA 25394825-C-CCA P1_Y2 **
27860967-C-CT 25714820-C-CT P1_Y2 5×TTG**
27860970-G-GTGTT 25714823-G-GTGTT P1_Y2 **
27897186-C-A 25751039-C-A P1_Y2 **
27897200-A-C 25751053-A-C P1_Y2 **
27897238-C-A 25751091-C-A P1_Y2 **
27897279-T-A 25751132-T-A P1_Y2 **
27936766-A-AG 25790619-A-AG P1_Y2 **
27939611-C-A 25793464-C-A P1_Y2 **
28049631-G-T 25903484-G-T P1_Y2 **
26427452-T-G 24281305-T-G P1_Y1 **
28453897-A-CC 26307750-A-CC P1_gr2 **
28453960-C-T 26307813-C-T P1_gr2 **
28454001-C-A 26307854-C-A P1_gr2 **
28497322-G-T 26351175-G-T **
28546917-T-C 26400770-T-C **
28605703-T-A 26459556-T-A **
28623980-C-T 26477833-C-T **
28726522-T-C 26580375-T-C **
28776119-C-T 26629972-C-T **
56837349-A-G **
26427455-G-C 24281308-G-C P1_Y1 **
26427442-G-C 24281295-G-C P1_Y1 **
24884221-A-G 22738074-A-G g1 **
25912741-A-AC 23766594-A-AC P1_Y1 **
24885550-G-T 22739403-G-T g1 **
25505007-G-A 23358860-G-A P1_gr1 **
25521059-C-A 23374912-C-A P1_gr1 **
25521081-G-A 23374934-G-A P1_gr1 **
25592892-CT-C 23446745-CT-C P1_gr1 **
25726939-C-A 23580792-C-A P1_b3 **
25726947-C-A 23580800-C-A P1_b3 **
25726962-T-TC 23580815-T-TC P1_b3 **
25726969-CA-C 23580822-CA-C P1_b3 **
25726980-A-C 23580833-A-C P1_b3 **
25912746-A-CC 23766599-A-CC P1_Y1 **
26427419-A-C 24281272-A-C P1_Y1 **
25994233-T-G 23848086-T-G P1_Y1 **
26088512-C-A 23942365-C-A P1_Y1 **
26237513-G-GGGGGTGT 24091366-G-GGGGGTGT P1_Y1 **
26246524-A-G 24100377-A-G P1_Y1 **
26345813-G-T 24199666-G-T P1_Y1 **
26427388-G-T 24281241-G-T P1_Y1 **
26427400-A-T 24281253-A-T P1_Y1 **
26427403-A-C 24281256-A-C P1_Y1 **
26427404-G-T 24281257-G-T P1_Y1 **
26427410-C-A 24281263-C-A P1_Y1 **
22169243-C-G 20007357-C-G **
22028694-A-C 19866808-A-C **
17942273-ATG-A 15830393-ATG-A **
19235712-T-G 17123832-T-G **
19168835-C-G 17056955-C-G **
19168836-G-T 17056956-G-T **
19168837-G-T 17056957-G-T **
19168849-G-A 17056969-G-A **
19168856-A-G 17056976-A-G **
19168861-A-T 17056981-A-T **
19168892-A-G 17057012-A-G **
19204375-C-A 17092495-C-A **
19209802-C-A 17097922-C-A **
19235719-A-C 17123839-A-C **
19168799-A-G 17056919-A-G **
19235720-G-A 17123840-G-A **
19253244-C-A 17141364-C-A **
19268242-C-A 17156362-C-A **
19300345-A-G 17188465-A-G **
19301731-G-T 17189851-G-T **
19301750-T-C 17189870-T-C **
19389594-C-A 17277714-C-A **
19429904-T-A 17318024-T-A **
19439581-C-A 17327701-C-A **
19492819-C-CT 17380939-C-CT **
19168808-T-G 17056928-T-G **
19112632-G-T 17000752-G-T **
19541826-G-T 17429946-G-T **
18323461-T-G 16211581-T-G P6_Prx **
17942303-A-G 15830423-A-G **
17997439-C-G 15885559-C-G P7_Gap **
17997449-G-C 15885569-G-C P7_Gap **
18024542-T-A 15912662-T-A **
18184683-C-A 16072803-C-A **
18263705-T-C 16151825-T-C **
18263737-C-A 16151857-C-A **
18263757-G-C 16151877-G-C **
18316151-G-GGA 16204271-G-GGA P6_Prx **
18316156-A-AC 16204276-A-AC P6_Prx **
18323476-T-A 16211596-T-A P6_Prx **
19065866-T-A 16953986-T-A **
18323490-G-C 16211610-G-C P6_Prx **
18323502-G-C 16211622-G-C P6_Prx **
18423760-C-A 16311880-C-A P6_Gap **
18629492-A-C 16517612-A-C **
18688147-C-A 16576267-C-A **
18742378-C-A 16630498-C-A **
10805275-C-A **
18863604-T-C 16751724-T-C **
19023134-A-G 16911254-A-G **
19060104-T-A 16948224-T-A **
19492822-A-G 17380942-A-G **
19606224-C-A 17494344-C-A P5_Prx **
22011257-A-C 19849371-A-C **
21563703-A-C 19401817-A-C **
20726599-C-T 18564713-C-T P4_Prx **
20730898-A-C 18569012-A-C P4_Prx **
20730912-G-T 18569026-G-T P4_Prx **
20778667-C-CATAT 18616781-C-CATAT P4_Prx 9×AT**
20783291-G-T 18621405-G-T P4_Prx **
21035045-C-G 18873159-C-G **
21068493-C-A 18906607-C-A **
21244207-A-G 19082321-A-G **
21320618-C-A 19158732-C-A **
21549263-C-A 19387377-C-A **
21565890-G-T 19404004-G-T **
20726551-A-C 18564665-A-C P4_Prx **
21651770-A-G 19489884-A-G **
21651789-T-C 19489903-T-C **
21677258-C-A 19515372-C-A **
21699144-A-G 19537258-A-G **
21709262-C-T 19547376-C-T **
21709274-A-G 19547388-A-G **
21709279-C-T 19547393-C-T **
21795500-G-T 19633614-G-T **
21861446-A-G 19699560-A-G **
21958124-C-A 19796238-C-A **
20726592-T-G 18564706-T-G P4_Prx **
20726536-C-A 18564650-C-A P4_Prx **
19606233-C-A 17494353-C-A P5_Prx **
19866974-A-ACT 17755094-A-ACT P5_Prx **
19606248-A-C 17494368-A-C P5_Prx **
19606265-C-A 17494385-C-A P5_Prx **
19606278-C-T 17494398-C-T P5_Prx **
19606297-C-A 17494417-C-A P5_Prx **
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16692105-AAG-A,AAA 14580225-AAG-A,AAA ***
23429908-CAA-C,CAAA 21268022-CAA-C,CAAA 13×A***
23342064-GAGCC-G 21180178-GAGCC-G ***
13691202-C-T 11535526-C-T ***

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.

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