Tree Position

R-P312/S116 > DF19/S232 > DF88 > FGC11833 > Z17110 > S4268 > Z17112 > S17075 > S10067 > BY207485

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
N16082
BigY2
N16082
22217720-A-G 20055834-A-G DYZ19 A+
4416424-T-C 4548383-T-C A*
26204612-C-T 24058465-C-T P1_Y1 A*
26099787-T-C 23953640-T-C P1_Y1 A*
6169167-A-G 6301126-A-G IR3_Dst A*A*
6285001-G-A 6416960-G-A IR3_Dst A*A*
19736967-G-A 17625087-G-A P5_Prx A*
26204611-A-T 24058464-A-T P1_Y1 A*
26217406-G-A 24071259-G-A P1_Y1 A*A*
18512925-G-GA 16401045-G-GA P6_Dst 10×AA*
28817193-A-C 26671046-A-C A*
19728485-G-T 17616605-G-T P5_Prx A*
19756206-C-G 17644326-C-G P5_Prx A*
20956695-T-G 18794809-T-G P4_Dst A*
20956696-T-A 18794810-T-A P4_Dst A*
20956697-C-A 18794811-C-A P4_Dst A*
27960966-T-TA 25814819-T-TA P1_Y2 18×AA*
28817380-C-A 26671233-C-A A*
56861363-A-G A*
19484526-C-T 17372646-C-T PH4542 Y++
6000765-T-A 6132724-T-A FT95937 +**
6984932-C-A 7116891-C-A BY62722 YY++
7080081-A-G 7212040-A-G FT96084 YY+**
7583419-C-T 7715378-C-T FT96147 YY+**
8089359-T-G 8221318-T-G BY69855 YY++
8493538-T-C 8625497-T-C BY73373 YY++
8540768-G-A 8672727-G-A BY73836 YY++
8893621-C-G 9025580-C-G FT96246 Y+**
14274616-G-A 12153910-G-A BY94466 YY++
14874689-A-G 12762759-A-G BY98155 YY++
15321789-T-C 13209907-T-C BY100820 YY++
18989978-A-C 16878098-A-C BY125298 Y++
20752072-A-G 18590186-A-G FT452814 P4_Prx +*
21290598-T-G 19128712-T-G BY131734 YY++
21861090-G-A 19699204-G-A BY135982 YY++
22462554-G-C 20300668-G-C BY220927 DYZ19 ++
22647237-T-G 20485351-T-G BY139721 YY++
23404449-G-C 21242563-G-C BY145065 YY++
3134850-G-A 3266809-G-A FT94946 +
3200513-T-G 3332472-T-G FT94965 +
3533907-C-T 3665866-C-T FT95065 +
4131485-G-A 4263444-G-A FT95271 +
4727949-G-T 4859908-G-T FT95471 +
5620809-A-T 5752768-A-T FT95796 +
13592324-C-T 11436648-C-T FT446059 +
21238580-C-A 19076694-C-A FT97052 YY+
22756187-G-T 20594301-G-T YY+
10756644-T-TACTCC ***
22436288-C-G 20274402-C-G DYZ19 *
14785154-C-A 12673224-C-A **
9944624-G-A 10107015-G-A **
14213866-A-G 12093160-A-G **
16101996-CTTT-C 13990116-CTTT-C P8_Prx 19×T**
22262667-TA-T 20100781-TA-T DYZ19 **
13942544-C-A 11821838-C-A **
24264545-A-G 22118398-A-G P3_b1 **
15700532-C-A 13588652-C-A **
56685608-A-G **
24300841-A-T 22154694-A-T P3_t1 **
7656663-C-A 7788622-C-A **
23961287-C-A 21815140-C-A **
23720480-C-A 21558594-C-A **
28657140-C-A 26510993-C-A **
11007984-G-T **
4226035-G-T 4357994-G-T **
10927848-C-A **
10927853-G-A **
10927860-A-T **
16766404-C-A 14654524-C-A **
22766753-C-A 20604867-C-A **
7131893-C-A 7263852-C-A **
17494672-C-A 15382792-C-A **
24877530-A-T 22731383-A-T g1 **
28484251-C-A 26338104-C-A **
14949705-C-A 12837779-C-A **
27038866-G-T 24892719-G-T P1_r4 **
4872682-C-A 5004641-C-A **
16165138-AG-A 14053258-AG-A P8_Dst **
22729607-C-A 20567721-C-A **
15173515-C-A 13061601-C-A **
14444980-C-A 12324253-C-A **
16922179-C-A 14810299-C-A **
14430969-C-A 12310242-C-A **
17548623-C-A 15436743-C-A **
10958575-G-T **
17781641-C-A 15669761-C-A **
19524421-C-A 17412541-C-A **
7113670-C-A 7245629-C-A **
2884886-G-T 3016845-G-T **
19586509-G-T 17474629-G-T P5_Prx **
9732923-C-T 9895314-C-T IR3_Prx **
21596820-C-A 19434934-C-A **
4687558-C-A 4819517-C-A **
10958600-C-A **
21200894-C-A 19039008-C-A 14×A**
3640532-T-TTTCC 3772491-T-TTTCC 9×TTCC**
18616003-C-A 16504123-C-A **
8773751-C-A 8905710-C-A **
17300680-C-A 15188800-C-A **
28731378-C-A 26585231-C-A **
14784722-TTG-T 12672792-TTG-T **
10817388-C-A **
10989162-C-G **
19378299-C-A 17266419-C-A **
14250142-C-A 12129436-C-A **
17380822-C-A 15268942-C-A **
26415746-G-A 24269599-G-A P1_Y1 **
11022936-C-A **
6732528-C-A 6864487-C-A **
16015653-C-A 13903773-C-A **
6341223-A-C 6473182-A-C FTB59008 IR3_Dst **
10808591-C-T **
21754437-G-T **
24387442-C-T 22241295-C-T **
19575965-T-C 17464085-T-C P5_Prx **
9026095-G-T 9188486-G-T **
15279250-C-A 13167349-C-A FT157180 **
7670682-C-A 7802641-C-A **
22164204-C-A 20002318-C-A **
18531011-C-A 16419131-C-A P6_Dst **
7019292-C-A 7151251-C-A **
10808628-C-G **
10768617-GCATTC-G **
21651815-C-A 19489929-C-A **
22997055-C-A 20835169-C-A **
19753399-C-A 17641519-C-A P5_Prx **
4416943-C-A 4548902-C-A **
24513645-C-A 22367498-C-A **
21087347-C-A 18925461-C-A **
24614207-C-T 22468060-C-T P3_t2 **
23111647-C-A 20949761-C-A **
21895560-C-A 19733674-C-A **
15395082-C-A 13283202-C-A **
22970269-C-A 20808383-C-A **
9959065-G-T 10121456-G-T **
2860007-A-T 2991966-A-T **
3424984-C-A 3556943-C-A **
3548984-C-A 3680943-C-A **
3640765-C-G 3772724-C-G **
3654399-G-A 3786358-G-A **
4114716-C-A 4246675-C-A **
4503606-C-A 4635565-C-A **
4772008-C-A 4903967-C-A **
5060203-C-T 5192162-C-T **
6179592-ATTTT-A 6311551-ATTTT-A IR3_Dst 22×T**
6734843-C-A 6866802-C-A **
6816483-G-A 6948442-G-A **
6861527-C-A 6993486-C-A **
6910472-C-A 7042431-C-A **
7095261-C-A 7227220-C-A **
7471240-G-T 7603199-G-T IR1_L **
7567991-C-A 7699950-C-A **
7724333-T-C 7856292-T-C **
8016582-C-A 8148541-C-A **
8036240-G-C 8168199-G-C **
8140539-C-A 8272498-C-A **
8214250-G-T 8346209-G-T **
8216467-C-A 8348426-C-A **
8865826-C-A 8997785-C-A **
9372983-C-A 9535374-C-A **
10749239-G-T **
10764554-C-CGGGTTGATTT **
10764573-T-TCGAGTCGAAC **
10786197-C-A **
10796049-C-A **
10808581-C-A **
10876895-T-C **
10914533-T-A **
10924164-G-T **
10941016-C-A **
10958545-G-A **
10958565-C-T **
10965243-G-T **
11030501-C-A **
11038250-A-C **
13258663-C-A 11102987-C-A **
13294005-T-A 11138329-T-A ****
13474682-TC-T 11319006-TC-T **
13478158-C-A 11322482-C-A **
13502009-C-A 11346333-C-A **
13642609-A-T 11486933-A-T **
11653980-T-C DYZ17 **
14235991-TCCTCCAGC-T 12115285-TCCTCCAGC-T **
14546386-C-A 12434587-C-A **
15176444-C-A 13064530-C-A **
15362044-C-T 13250164-C-T **
15564095-C-A 13452215-C-A **
15746795-G-T 13634915-G-T **
16134304-TA-T 14022424-TA-T P8_Spc **
16146486-A-AGAAT 14034606-A-AGAAT P8_Dst **
16165107-C-A 14053227-C-A P8_Dst **
16165131-A-G 14053251-A-G P8_Dst **
16165136-G-GA 14053256-G-GA P8_Dst 13×GA**
16187727-C-A 14075847-C-A **
16322253-G-T 14210373-G-T **
16515855-G-A 14403975-G-A **
17343814-A-G 15231934-A-G **
17371117-G-T 15259237-G-T **
17642857-A-G 15530977-A-G **
17914228-A-ACT 15802348-A-ACT **
18340479-G-GTTTT 16228599-G-GTTTT P6_Prx **
18340485-C-T 16228605-C-T P6_Prx **
18340487-C-T 16228607-C-T P6_Prx **
18340497-C-T 16228617-C-T P6_Prx **
18340501-C-CAT 16228621-C-CAT P6_Prx **
18340505-C-CA 16228625-C-CA P6_Prx **
18976715-C-A 16864835-C-A **
18996554-G-T 16884674-G-T **
19071627-CT-C 16959747-CT-C **
19431495-G-T 17319615-G-T **
19531335-T-A 17419455-T-A **
19663420-C-T 17551540-C-T P5_Prx **
19758865-C-A 17646985-C-A P5_Prx **
19849312-A-T 17737432-A-T P5_Prx **
19873513-A-G 17761633-A-G P5_Prx **
20128619-C-A 18016739-C-A P5_Dst **
20242616-C-T 18080730-C-T P5_Dst **
20352194-C-A 18190308-C-A P5_Dst **
20969213-A-ACTGT 18807327-A-ACTGT P4_Dst **
21012241-T-C 18850355-T-C P4_Dst **
21138706-C-T 18976820-C-T **
21483378-C-A 19321492-C-A **
22173562-T-C 20011676-T-C **
22428297-T-C 20266411-T-C DYZ19 **
22625119-G-A 20463233-G-A **
22869766-A-G 20707880-A-G **
23183507-C-A 21021621-C-A **
23279559-C-A 21117673-C-A **
23340808-G-T 21178922-G-T **
23723703-T-A 21561817-T-A **
24242208-A-C 22096061-A-C P3_b1 **
24242210-A-C 22096063-A-C P3_b1 **
24502969-G-T 22356822-G-T **
24508322-C-T 22362175-C-T **
26170568-A-T 24024421-A-T P1_Y1 **
27435986-A-G 25289839-A-G P1_Y2 **
27829256-G-T 25683109-G-T P1_Y2 **
27840458-G-A 25694311-G-A P1_Y2 **
27862502-C-G 25716355-C-G P1_Y2 **
28560674-C-A 26414527-C-A **
28798968-T-C 26652821-T-C **
19811645-G-T 17699765-G-T P5_Prx **
6191130-T-G 6323089-T-G IR3_Dst **
6234063-G-T 6366022-G-T IR3_Dst **
6361072-G-T 6493031-G-T **
8110848-C-T 8242807-C-T **
9909414-A-G 10071805-A-G **
9923973-C-T 10086364-C-T **
13522999-G-T 11367323-G-T **
14290996-G-A 12170290-G-A **
19600415-T-G 17488535-T-G P5_Prx **
21915618-A-G 19753732-A-G **
22551643-T-C 20389757-T-C **
24276834-A-G 22130687-A-G P3_b1 **
25617300-G-T 23471153-G-T P1_gr1 **
26095587-A-C 23949440-A-C P1_Y1 **
26106311-C-A 23960164-C-A P1_Y1 **
3443654-G-A 3575613-G-A ***
18775551-A-AT 16663671-A-AT 9×T***
21409329-C-A 19247443-C-A Z22704 ***
22316718-A-T 20154832-A-T K387 DYZ19 ***
21862682-CAA-C 19700796-CAA-C 11×A***
17323753-T-G 15211873-T-G 4×GGAG***
5524546-C-A 5656505-C-A ***
9056976-C-A ***
18653672-G-A 16541792-G-A ***
7201630-CT-C,CTT 7333589-CT-C,CTT 11×T***
8379825-C-A 8511784-C-A ***
13708060-C-A 11552384-C-A DYZ17 ***
27637233-T-C 25491086-T-C P1_Y2 ***
4302147-C-A 4434106-C-A ***
21287965-A-C 19126079-A-C ***
10024307-C-A 10186698-C-A ***
28324880-C-A 26178733-C-A P1_b4 ***
6792626-C-T 6924585-C-T ***
7124388-CAAA-C 7256347-CAAA-C 17×A***
8821866-C-A 8953825-C-A ***
21651182-C-A 19489296-C-A ***
16730003-G-GAAA 14618123-G-GAAA 17×A***
13422346-C-A 11266670-C-A ***
58972697-T-G 56826550-T-G ***
10911918-C-A ***
7582106-CA-C,CAA 7714065-CA-C,CAA 14×A***
23196627-T-A 21034741-T-A A15126 17×A***
15495448-C-A 13383568-C-A ***
16171133-C-A 14059253-C-A ***
14250389-G-T 12129683-G-T ***
14858572-C-A 12746638-C-A ***
6922768-C-A 7054727-C-A ***
6630512-C-T 6762471-C-T 15×T***
11000478-C-A ***
28659381-C-A 26513234-C-A ***
7144042-C-A 7276001-C-A ***
16707335-G-T 14595455-G-T ***
21211554-C-A 19049668-C-A ***
24870884-A-C 22724737-A-C IR1_R ***
23299774-C-A 21137888-C-A ***
58972695-G-C 56826548-G-C ***
15659928-TAA-T,TA 13548048-TAA-T,TA 15×A***
14927087-A-G 12815152-A-G ***
23475847-C-A 21313961-C-A ***
6693735-C-A 6825694-C-A ***
21713821-C-A 19551935-C-A ***
18097697-C-A 15985817-C-A ***
27872825-C-A 25726678-C-A P1_Y2 ***
10807314-TG-T,TT ***
3536156-C-A 3668115-C-A ***
4969878-A-G 5101837-A-G ***
6347876-G-T 6479835-G-T ***
6434946-G-A,T 6566905-G-A,T ***
6754868-C-A 6886827-C-A ***
6775194-C-A 6907153-C-A ***
6887004-C-T 7018963-C-T ***
6900939-C-A 7032898-C-A ***
6918237-A-G 7050196-A-G ***
7087030-G-C 7218989-G-C ***
7705037-G-A 7836996-G-A FT97905 ***
7773259-C-A 7905218-C-A ***
7780806-T-C 7912765-T-C ***
8422801-C-A 8554760-C-A ***
8431653-G-T 8563612-G-T ***
8445857-C-A 8577816-C-A ***
9989940-A-G 10152331-A-G ***
10010702-G-C 10173093-G-C ***
11000382-CCATTG-C ***
13471024-A-G 11315348-A-G ***
13869163-T-TC 11748457-T-TC DYZ17 ***
13888085-A-G 11767379-A-G ***
14037996-A-G 11917290-A-G ***
14041948-C-A 11921242-C-A ***
14219216-T-C 12098510-T-C ***
14422006-C-T 12301281-C-T ***
14621674-C-A 12509872-C-A 9×AG***
15565209-A-G 13453329-A-G ***
15605798-G-T 13493918-G-T ***
15706889-C-A 13595009-C-A ***
15984562-C-A 13872682-C-A ***
16313233-G-A 14201353-G-A ***
16692725-C-A 14580845-C-A ***
17169750-C-A 15057870-C-A ***
17478356-G-A 15366476-G-A ***
17672126-C-A 15560246-C-A ***
18596463-T-C 16484583-T-C ***
18811068-A-G 16699188-A-G ***
19109785-C-A 16997905-C-A ***
19187413-TG-G,T 17075533-TG-G,T ***
19520852-A-G 17408972-A-G ***
21052589-A-T 18890703-A-T ***
21066391-C-A 18904505-C-A ***
21561560-A-G 19399674-A-G ***
22212287-A-G 20050401-A-G ***
22669036-G-A 20507150-G-A ***
22756186-TG-T,TT 20594300-TG-T,TT ***
23136850-G-A 20974964-G-A ***
23528873-A-G 21366987-A-G 4×TTAT***
24462188-C-T 22316041-C-T ***
56830027-C-A,T ***
56830295-CTCCAC-C,CTCCAT ***
4583006-G-T 4714965-G-T ***
13476406-A-G 11320730-A-G ***
18635339-G-GT 16523459-G-GT ***
18635341-TA-T 16523461-TA-T ***
3612166-T-C 3744125-T-C ***
16688276-A-G 14576396-A-G ***
17797149-A-G 15685269-A-G ***
18635364-G-GT 16523484-G-GT ***
18635366-TA-T 16523486-TA-T ***
19436734-AAGAAAGAGAG-A,AAGAAAGAAAG 17324854-AAGAAAGAGAG-A,AAGAAAGAAAG ***

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.