Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > Z195/S355 > Z272 > S450 > Z295/S1217 > S25783 > CTS4065 > 15548847GACAC-G > FGC15710 > CTS10029 > FGC29721 > FGC29724 > 22473581-T-A

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
246892
FGC
ASVM9
5373302-A-G 5505261-A-G FGC33357 +
22798507-A-G 20636621-A-G FGC33364 Y+
14245278-A-G 12124572-A-G FGC33359 YY+
22463401-T-A 20301515-T-A DYZ19 +**
14026511-C-T 11905805-C-T FGC33358 YY++
3688823-C-T 3820782-C-T FGC33356 **+
17976669-G-A 15864789-G-A FGC33360 Y++
13533402-C-G 11377726-C-G **
10049023-G-C 10211414-G-C **
6541475-C-CAG 6673434-C-CAG 17×AG**
3483826-TACAC-T 3615785-TACAC-T 13×AC**
28336668-C-CAAA 26190521-C-CAAA P1_b4 31×A**
13565045-C-A 11409369-C-A **
9932903-A-G 10095294-A-G **
13508114-A-C 11352438-A-C **
58836459-T-A 56754412-A-T ***
58843242-T-G 56747629-A-C ***
58848622-T-C 56742249-A-G ***
22481668-A-G 20319782-A-G DYZ19 ***
58848626-G-A 56742245-C-T ***
58851732-A-T 56739139-T-A ***
58851743-C-A 56739128-G-T ***
22636178-C-G 20474292-C-G ***
58835806-C-T 56755065-G-A ***
58851781-T-C 56739090-A-G ***
58851936-T-C 56738935-A-G ***
58867381-C-T 56723490-G-A ***
58867388-G-T 56723483-C-A ***
58867396-C-A 56723475-G-T ***
58867401-G-T 56723470-C-A ***
58867402-A-T 56723469-T-A ***
58867403-G-T 56723468-C-A ***
58867687-C-A 56723184-G-T ***
58835896-C-T 56754975-G-A ***
58835804-T-A 56755067-A-T ***
22531998-C-A 20370112-C-A ***
27646081-G-A 25499934-G-A P1_Y2 ***
23415340-A-T 21253454-A-T ***
24588345-C-A 22442198-C-A P3_t2 ***
25854868-T-A 23708721-T-A P1_Y1 ***
26040485-C-T 23894338-C-T P1_Y1 ***
26040500-G-T 23894353-G-T P1_Y1 ***
26207397-A-T 24061250-A-T P1_Y1 ***
26249438-T-A 24103291-T-A P1_Y1 ***
26262895-C-A 24116748-C-A P1_Y1 ***
26462026-A-T 24315879-A-T P1_Y1 ***
27517366-C-A 25371219-C-A P1_Y2 ***
27676505-T-A 25530358-T-A P1_Y2 ***
22502657-G-T 20340771-G-T DYZ19 ***
28022807-G-C 25876660-G-C P1_Y2 ***
28022823-C-T 25876676-C-T P1_Y2 ***
58822034-C-G 56768837-G-C ***
58822043-A-T 56768828-T-A ***
22503315-A-T 20341429-A-T DYZ19 ***
58831542-C-A 56759329-G-T ***
58831581-T-C 56759290-A-G ***
22503307-G-T 20341421-G-T DYZ19 ***
58870110-C-A 56720761-G-T ***
58834677-G-C 56756194-C-G ***
58835800-A-T 56755071-T-A ***
13479380-G-A 11323704-G-A ***
58879543-T-G 56711328-A-C ***
58870635-G-T 56720236-C-A ***
28491345-A-ACCCCCCCAAAAAAAAG 26345198-A-ACCCCCCCAAAAAAAAG ***
20462571-GTATAAG-CT 18300685-GTATAAG-CT P5_Dst ***
21501086-A-ATTTTT 19339200-A-ATTTTT 37×T***
22235088-TACAA-CTAAG 20073202-TACAA-CTAAG DYZ19 ***
22292677-AT-GC 20130791-AT-GC DYZ19 ***
22499115-GTCTT-TTCTA 20337229-GTCTT-TTCTA DYZ19 ***
22739716-C-CAAAAAAAA 20577830-C-CAAAAAAAA 24×A***
25207889-CAAAG-AAAAA 23061742-CAAAG-AAAAA P2_r1 ***
27519006-CAATAAAAAATTATAAAGGGGATA-GAGTGATAATTTTTTAACTAAAT 25372859-CAATAAAAAATTATAAAGGGGATA-GAGTGATAATTTTTTAACTAAAT P1_Y2 ***
27519033-CCACCGATCCCAC-TTGCCTTT 25372886-CCACCGATCCCAC-TTGCCTTT P1_Y2 ***
28529232-C-CA 26383085-C-CA 23×A***
15480111-ATTTTTT-A 13368231-ATTTTTT-A 21×T***
28633965-T-TA 26487818-T-TA 10×A***
58823383-CTCTATC-TTCCATT 56767482-GATAGAG-AATGGAA ***
58877059-AG-A 56713810-GC-G ***
58877065-C-TG 56713806-G-CA ***
58877094-CCATAG-C 56713768-AATGCT-A ***
58879434-GATTCCATTGCATTCC-G 56711413-GAATGGAATGGAATGC-G ***
58909162-TTAGC-T 56681704-CGCTA-C ***
58909168-GA-G 56681701-GT-G ***
58910210-TTT-AAA 56680659-AAA-TTT ***
17994850-TC-AA 15882970-TC-AA P7_Prx ***
14657759-T-TAAAAAAA 12545824-T-TAAAAAAA 15×A***
58875426-A-G 56715445-T-C ***
2903272-TTCCT-C 3035231-TTCCT-C ***
58876172-T-A 56714699-A-T ***
58877089-C-G 56713782-G-C ***
58877111-A-T 56713760-T-A ***
22452554-C-T 20290668-C-T DYZ19 ***
58905820-T-A 56685051-A-T ***
58908589-T-G 56682282-A-C ***
58910201-T-A 56680670-A-T ***
5784590-GA-G 5916549-GA-G 13×A***
14609822-ATAT-A ***
9390695-ATGT-A 9553086-ATGT-A ***
14420787-C-CTTTTTT 12300062-C-CTTTTTT 18×T***
13473522-TCTGTAG-CCTCTAA 11317846-TCTGTAG-CCTCTAA ***
13473535-GC-CT 11317859-GC-CT ***
13473563-ATGAGTG-TTCAGTA 11317887-ATGAGTG-TTCAGTA ***
13479204-CTCTG-ATCTT 11323528-CTCTG-ATCTT ***
13485086-GATA-TATC 11329410-GATA-TATC ***
13487523-GGG-TGA 11331847-GGG-TGA ***
13487533-AAGAA-CAGAC 11331857-AAGAA-CAGAC ***
13508110-AGCTA-GGCTC 11352434-AGCTA-GGCTC ***
13528196-TCAGC-CCAGT 11372520-TCAGC-CCAGT ***
13842566-CAGAG-TGGAA 11721860-CAGAG-TGGAA ***
22480731-G-A 20318845-G-A DYZ19 ***
22357668-T-A 20195782-T-A DYZ19 ***
22450016-C-G 20288130-C-G DYZ19 ***
58907501-ATTCCGTTCGATTCCC-A 56683335-TGGAAGGGAATCGAAC-T ***
19852581-G-C 17740701-G-C P5_Prx ***
22296683-G-A 20134797-G-A DYZ19 ***
25250431-A-G 23104284-A-G P2_r1 ***
26030817-C-T 23884670-C-T P1_Y1 ***
18928568-TAC-AAA 16816688-TAC-AAA ***
13110175-T-A 10599661-T-A ***
3550567-AAC-A 3682526-AAC-A ***
5106939-T-G 5238898-T-G ***
26386480-C-CAAAAAAAAAAAAAA 24240333-C-CAAAAAAAAAAAAAA P1_Y1 20×A***
28022789-A-T 25876642-A-T P1_Y2 ***
6294687-C-T 6426646-C-T IR3_Dst ***
28022790-G-T 25876643-G-T P1_Y2 ***
28022805-G-A 25876658-G-A P1_Y2 ***
5757308-CAAAAAA-C 5889267-CAAAAAA-C 18×A***
58870474-T-C 56720397-A-G ***
58911286-G-C 56679585-C-G ***
13494460-A-C 11338784-A-C ***
13370417-G-C 11214741-G-C ***
58916694-G-T 56674177-C-A ***
25855066-T-C 23708919-T-C P1_Y1 ***
13370465-C-A 11214789-C-A ***
9314577-C-T 9476968-C-T ***
13740389-T-C 11584713-T-C ***
2932203-T-A 3064162-T-A ***
58835639-T-C 56755232-A-G ***
58874474-C-A 56716397-G-T ***
13481949-T-G 11326273-T-G ***
58844027-T-TTCCATTCGATTCCA 56746842-A-AATGGAATCGAATGG ***
22360415-T-C 20198529-T-C DYZ19 ***
25954142-T-C 23807995-T-C P1_Y1 ***
58867456-G-C 56723415-C-G ***
13372190-C-T 11216514-C-T ***
22342731-G-C 20180845-G-C DYZ19 ***
58835606-G-A 56755265-C-T ***
22488535-GAAGCTACC-TAAGTTGCA 20326649-GAAGCTACC-TAAGTTGCA DYZ19 ***
58913269-A-G 56677602-T-C ***
22360499-G-C 20198613-G-C DYZ19 ***
13473535-G-C 11317859-G-C ***
22360431-G-A 20198545-G-A DYZ19 ***
13473535-G-A 11317859-G-A ***
58841385-T-C 56749486-A-G ***
58889797-G-A 56701074-C-T ***
13517368-GACT-G 11361692-GACT-G ***
22342904-C-G 20181018-C-G DYZ19 ***
22358325-G-A 20196439-G-A DYZ19 ***
13110570-C-A 10600056-C-A ***
2932202-T-A 3064161-T-A ***
9191024-T-A 9353415-T-A 10×A***
22435757-G-C 20273871-G-C DYZ19 ***
20957703-G-T 18795817-G-T P4_Dst ***
20389045-T-C 18227159-T-C P5_Dst ***
20389058-G-A 18227172-G-A P5_Dst ***
20389072-T-A 18227186-T-A P5_Dst ***
20389074-A-T 18227188-A-T P5_Dst ***
20389088-G-T 18227202-G-T P5_Dst ***
20389089-A-T 18227203-A-T P5_Dst ***
20462569-G-C 18300683-G-C P5_Dst ***
20569008-G-A 18407122-G-A P5_Dst ***
20569015-G-T 18407129-G-T P5_Dst ***
22235054-G-A 20073168-G-A DYZ19 ***
20389030-T-A 18227144-T-A P5_Dst ***
22235080-A-C 20073194-A-C DYZ19 ***
22274098-G-T 20112212-G-T DYZ19 ***
22274109-A-G 20112223-A-G DYZ19 ***
22337606-C-A 20175720-C-A DYZ19 ***
22343853-G-T 20181967-G-T DYZ19 ***
27997660-G-A 25851513-G-A P1_Y2 ***
22360090-A-C 20198204-A-C DYZ19 ***
22360576-G-T 20198690-G-T DYZ19 ***
22365810-C-T 20203924-C-T DYZ19 ***
22366938-G-A 20205052-G-A DYZ19 ***
20389034-C-T 18227148-C-T P5_Dst ***
20388728-G-A 18226842-G-A P5_Dst ***
9191035-T-A 9353426-T-A ***
13479204-C-A 11323528-C-A ***
9309613-G-T 9472004-G-T ***
9780678-A-G 9943069-A-G ***
13109782-G-A 10599268-G-A ***
13110062-A-G 10599548-A-G ***
13222816-G-A 11067140-G-A ***
13463491-C-G 11307815-C-G ***
13463500-C-T 11307824-C-T ***
13463998-A-G 11308322-A-G ***
13479164-C-T 11323488-C-T ***
13529010-C-A 11373334-C-A ***
20388708-T-A 18226822-T-A P5_Dst ***
14056518-C-A 11935812-C-A ***
18453197-G-A 16341317-G-A P6_Dst ***
18453202-T-C 16341322-T-C P6_Dst ***
18453204-G-A 16341324-G-A P6_Dst ***
19270480-T-C 17158600-T-C ***
20025470-T-C 17913590-T-C P5_Prx ***
20338110-T-A 18176224-T-A P5_Dst ***
20362762-T-A 18200876-T-A P5_Dst ***
20362799-A-T 18200913-A-T P5_Dst ***
20388703-C-T 18226817-C-T P5_Dst ***
58910230-T-TC 56680640-A-AG ***

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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