Tree Position

R-P312/S116 > Z290 > L21/S145 > DF13 > Z39589 > L1335/S530 > L1065 > Z16325 > S744 > S764 > ZZ28 > FGC18441 > FGC18447 > FGC18453 > FGC18448

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 STRFGC
2923038-A-T 3054997-A-T FGC18442 +
5910637-A-G 6042596-A-G FGC18445 +
13216943-T-A 11061267-T-A FGC18449 +
3563516-C-G 3695475-C-G FGC18443 +
6645913-C-G 6777872-C-G FGC18446 Y+
17072822-A-G 14960942-A-G FGC18450 YY+
17355460-C-CA 15243580-C-CA FGC18454 +
22200870-G-A 20038984-G-A FGC18452 YY+
4110749-C-T 4242708-C-T FGC18444 *
19183814-C-CTTTT 17071934-C-CTTTT 28×T**
9429667-C-CAAAAAAAA 9592058-C-CAAAAAAAA 25×A**
14565557-G-T 12453757-G-T **
13205595-AATAT-A 11049919-AATAT-A 9×AT**
8462064-C-CAAAA 8594023-C-CAAAA 26×A**
14088008-CT-C 11967302-CT-C **
5652187-A-T 5784146-A-T **
9939130-A-G 10101521-A-G **
58819988-C-A 56770883-G-T ***
58838271-G-A 56752600-C-T ***
58819478-A-C 56771393-T-G ***
28556230-T-G 26410083-T-G ***
28390094-G-A 26243947-G-A P1_gr2 ***
28063302-A-T 25917155-A-T P1_Y2 ***
27891452-T-A 25745305-T-A P1_Y2 ***
58836486-T-C 56754385-A-G ***
18738827-G-GTA 16626947-G-GTA 10×TA***
58843795-G-T 56747076-C-A ***
58870738-T-C 56720133-A-G ***
58895472-G-A 56695399-C-T ***
58890761-A-C 56700110-T-G ***
58884806-A-C 56706065-T-G ***
58879732-T-A 56711139-A-T ***
58874589-G-C 56716282-C-G ***
58874479-G-C 56716392-C-G ***
58874476-A-T 56716395-T-A ***
58870766-T-G 56720105-A-C ***
58869603-T-A 56721268-A-T ***
58843809-G-C 56747062-C-G ***
58868132-A-C 56722739-T-G ***
58865834-C-A 56725037-G-T ***
58865793-A-C 56725078-T-G ***
58854376-C-A 56736495-G-T 4×CCATT***
58848687-C-T 56742184-G-A ***
58848676-A-T 56742195-T-A ***
27520244-T-A 25374097-T-A P1_Y2 ***
58844890-C-A 56745981-G-T ***
58848672-A-T 56742199-T-A ***
27289351-G-A 25143204-G-A P1_g3 ***
27457374-G-A 25311227-G-A P1_Y2 ***
22364862-A-G 20202976-A-G DYZ19 ***
22421550-A-T 20259664-A-T DYZ19 ***
22420061-A-T 20258175-A-T DYZ19 ***
22366709-G-A 20204823-G-A DYZ19 ***
22366638-A-C 20204752-A-C DYZ19 ***
22366628-C-G 20204742-C-G DYZ19 ***
22366624-A-T 20204738-A-T DYZ19 ***
22366619-C-T 20204733-C-T DYZ19 ***
22364759-T-A 20202873-T-A DYZ19 ***
22495815-A-C 20333929-A-C DYZ19 ***
22361631-G-C 20199745-G-C DYZ19 ***
22361619-G-A 20199733-G-A DYZ19 ***
22360739-A-T 20198853-A-T DYZ19 ***
22360737-T-C 20198851-T-C DYZ19 ***
22359909-C-G 20198023-C-G DYZ19 ***
22358332-C-A 20196446-C-A DYZ19 ***
22358325-G-A 20196439-G-A DYZ19 ***
22357636-T-A 20195750-T-A DYZ19 ***
22421727-A-G 20259841-A-G DYZ19 ***
22496027-T-C 20334141-T-C DYZ19 ***
27403840-G-T 25257693-G-T P1_g3 ***
26012426-C-A 23866279-C-A P1_Y1 ***
58909101-T-A 56681770-A-T ***
26523046-C-A 24376899-C-A P1_Y1 ***
26523042-C-A 24376895-C-A P1_Y1 ***
26523040-C-A 24376893-C-A P1_Y1 ***
26454324-T-A 24308177-T-A P1_Y1 ***
26454291-T-A 24308144-T-A P1_Y1 ***
26454281-T-A 24308134-T-A P1_Y1 ***
26012433-C-A 23866286-C-A P1_Y1 ***
26012425-T-A 23866278-T-A P1_Y1 ***
22501960-A-T 20340074-A-T DYZ19 ***
26012417-C-T 23866270-C-T P1_Y1 ***
25934504-G-A 23788357-G-A P1_Y1 ***
25934497-T-C 23788350-T-C P1_Y1 ***
22504510-A-G 20342624-A-G DYZ19 ***
22504501-G-T 20342615-G-T DYZ19 ***
22504487-C-A 20342601-C-A DYZ19 ***
22504467-T-G 20342581-T-G DYZ19 ***
22501987-A-T 20340101-A-T DYZ19 ***
58895483-T-A 56695388-A-T ***
22256943-GTATG-ATGTA 20095057-GTATG-ATGTA DYZ19 ***
58909184-G-T 56681687-C-A ***
18639018-A-AGTGT 16527138-A-AGTGT 26×GT***
22236502-GACC-CACA 20074616-GACC-CACA DYZ19 ***
22236443-CC-GA 20074557-CC-GA DYZ19 ***
22127975-C-CTTTTTTT 19966089-C-CTTTTTTT 20×T***
22023201-C-CTTTTTTT 19861315-C-CTTTTTTT 20×T***
21665727-A-ATAAC 19503841-A-ATAAC ***
21556919-C-CTT 19395033-C-CTT 23×T***
19728720-CTAG-GCAT 17616840-CTAG-GCAT P5_Prx ***
22263780-GTGT-ATGG 20101894-GTGT-ATGG DYZ19 ***
17604931-GTTTTTTTTTT-G 15493051-GTTTTTTTTTT-G 24×T***
15138012-C-CTTTT 13026099-C-CTTTT 15×T***
15015255-C-CTTTTTTTAACT 12903342-G-GCTTTTTTTAA 24×T***
14496296-TG-GATGGA ***
13701985-ACTA-CCTC 11546309-ACTA-CCTC ***
22261484-T-TCCGA 20099598-T-TCCGA DYZ19 ***
22292962-TG-GT 20131076-TG-GT DYZ19 ***
13481403-TAGAA-AAGAC 11325727-TAGAA-AAGAC ***
28761382-C-CAAA 26615235-C-CAAA 31×A***
58972572-T-TTCAAG 56826425-T-TTCAAG ***
58908655-TCTTCG-CATTCT 56682211-CGAAGA-AGAATG ***
58848701-T-TTTCCATTCCA 56742157-A-AAATGGAATGG ***
58848672-ATCCA-TTCCT 56742195-TGGAT-AGGAA ***
58839782-GTG-TTT 56751087-CAC-AAA ***
28551847-TCTC-T 26405700-TCTC-T ***
22292968-AT-GA 20131082-AT-GA DYZ19 ***
27997643-GA-G 25851496-GA-G P1_Y2 16×A***
26463097-C-CTTTTT 24316950-C-CTTTTT P1_Y1 36×T***
25268600-TAG-AAA 23122453-TAG-AAA P2_r1 ***
25268595-AG-A 23122448-AG-A P2_r1 ***
22457227-C-CT 20295341-C-CT DYZ19 ***
22366823-AG-GC 20204937-AG-GC DYZ19 ***
22337200-CATGTC-TATGTA 20175314-CATGTC-TATGTA DYZ19 ***
13661307-A-AATGGC 11505631-A-AATGGC ***
58913058-C-A 56677813-G-T ***
2845850-GAAT-AAAA 2977809-GAAT-AAAA ***
8740664-G-GTTTTTTT 8872623-G-GTTTTTTT 10×T***
7362062-A-ATT 7494021-A-ATT ***
6586785-AC-CCT 6718744-AC-CCT ***
6573333-T-TA 6705292-T-TA 10×A***
5010119-A-AACAC 5142078-A-AACAC ***
3543166-CA-C 3675125-CA-C 14×A***
3522968-T-TA 3654927-T-TA 24×A***
28008237-G-GAGAA 25862090-G-GAGAA P1_Y2 14×AGAA***
10018232-CA-TG 10180623-CA-TG ***
13262767-CCT-GCC 11107091-CCT-GCC ***
22342963-A-C 20181077-A-C DYZ19 ***
28546346-C-CA 26400199-C-CA 14×A***
59030791-G-GAA 56884644-G-GAA 10×A***
58972574-C-CAATTA 56826427-C-CAATTA ***
22330069-TG-GT 20168183-TG-GT DYZ19 ***
9311681-C-CTTTTTTT 9474072-C-CTTTTTTT 14×T***
9524048-T-TACACAC 9686439-T-TACACAC ***
13479052-AGAAC-GGAAT 11323376-AGAAC-GGAAT ***
13460188-CCCTC-GCCTA 11304512-CCCTC-GCCTA ***
13473354-GG-AA 11317678-GG-AA ***
13473344-TCCC-CCAA 11317668-TCCC-CCAA ***
13470394-TGG-CAT 11314718-TGG-CAT ***
13467568-TG-CA 11311892-TG-CA ***
13467564-CT-C 11311888-CT-C ***
13467511-AG-CT 11311835-AG-CT ***
13463155-CA-TG 11307479-CA-TG ***
13267778-C-CCCCCCCG 11112102-C-CCCCCCCG ***
13256139-CTTTC-GTTTT 11100463-CTTTC-GTTTT ***
13216014-TGTTGG-CAC 11060338-TGTTGG-CAC ***
13140078-GCGTGTGAT-AC 10629564-GCGTGTGAT-AC ***
13134921-CCTCT-GCTCA 10624407-CCTCT-GCTCA ***
13129515-AGGTTC-TGGTAA 10619001-AGGTTC-TGGTAA ***
22349422-C-A 20187536-C-A DYZ19 ***
22297291-T-C 20135405-T-C DYZ19 ***
22342927-T-A 20181041-T-A DYZ19 ***
4521218-G-A 4653177-G-A ***
6200112-C-A 6332071-C-A IR3_Dst ***
6200102-C-A 6332061-C-A IR3_Dst ***
6200099-C-A 6332058-C-A IR3_Dst ***
5479874-G-A 5611833-G-A ***
5441269-G-T 5573228-G-T ***
5441261-G-A 5573220-G-A ***
4843273-G-A 4975232-G-A ***
3283948-C-T 3415907-C-T ***
7502632-A-G 7634591-A-G IR1_L ***
22297529-A-C 20135643-A-C DYZ19 ***
13467533-G-A 11311857-G-A ***
22330081-T-G 20168195-T-G DYZ19 ***
22256924-C-G 20095038-C-G DYZ19 ***
58916937-G-C 56673934-C-G ***
13445300-C-G 11289624-C-G PF3682 ***
13468666-G-T 11312990-G-T ***
7477339-A-T 7609298-A-T IR1_L ***
9194680-G-T 9357071-G-T ***
22256945-A-G 20095059-A-G DYZ19 ***
9966747-A-T 10129138-A-T ***
10092305-T-A 10254696-T-A ***
10090781-C-G 10253172-C-G ***
10090376-G-A 10252767-G-A ***
10066843-G-A 10229234-G-A ***
10034586-T-C 10196977-T-C ***
10015061-G-T 10177452-G-T ***
10015016-C-T 10177407-C-T ***
9966742-A-G 10129133-A-G ***
9556922-T-A 9719313-T-A IR3_Prx ***
9939318-C-T 10101709-C-T ***
9696999-C-T 9859390-C-T IR3_Prx ***
9639094-T-G 9801485-T-G IR3_Prx 19×TG***
9607754-A-T 9770145-A-T IR3_Prx ***
9556927-T-A 9719318-T-A IR3_Prx ***
9556926-T-A 9719317-T-A IR3_Prx ***
9556925-T-A 9719316-T-A IR3_Prx ***
13467593-G-A 11311917-G-A ***
22256947-G-A 20095061-G-A DYZ19 ***
10092324-G-A 10254715-G-A ***
20540889-A-T 18379003-A-T P5_Dst ***
13253192-C-T 11097516-C-T ***
10090746-C-G 10253137-C-G ***
10104556-N-A 10266947-N-A ***
21965774-CA-C 19803888-CA-C 19×A***
58890263-A-T 56700608-T-A ***
58838996-C-A 56751875-G-T ***
20540937-C-T 18379051-C-T P5_Dst ***
13467511-A-C 11311835-A-C ***
22501927-TTTAG-GTGAT 20340041-TTTAG-GTGAT DYZ19 ***
58908683-G-T 56682188-C-A ***
22496026-C-A 20334140-C-A DYZ19 ***
13465768-C-A 11310092-C-A F18170 ***
28794961-CGC-GGG 26648814-CGC-GGG ***
9732895-C-CAAAAAA 9895286-C-CAAAAAA IR3_Prx 20×A***
13374277-G-C 11218601-G-C 13×A***
22501919-C-T 20340033-C-T DYZ19 ***
13253210-TTT-C 11097534-TTT-C ***
13311487-C-T 11155811-C-T ***
10015017-A-G 10177408-A-G ***
13485210-C-T 11329534-C-T ***
58916969-C-T 56673902-G-A ***
13479780-A-C 11324104-A-C ***
13500242-G-A 11344566-G-A ***
10015035-T-C 10177426-T-C ***
13607617-G-A 11451941-G-A ***
13139973-G-C 10629459-G-C ***
22289732-GTC-ATA 20127846-GTC-ATA DYZ19 ***
19610124-C-T 17498244-C-T P5_Prx 32×T***
22256951-A-T 20095065-A-T DYZ19 ***
20537986-C-A 18376100-C-A P5_Dst ***
20537954-G-C 18376068-G-C P5_Dst ***
13256206-G-A 11100530-G-A FGC29766 ***
22245071-G-ACT 20083185-G-ACT DYZ19 ***
22245066-AT-A 20083180-AT-A DYZ19 ***
22245077-G-A 20083191-G-A DYZ19 ***
10092320-T-A 10254711-T-A ***
10092337-G-A 10254728-G-A ***
22342904-C-G 20181018-C-G DYZ19 ***
20607600-T-A 18445714-T-A P5_Dst ***
20887680-T-A 18725794-T-A P4_Dst ***
20887674-T-A 18725788-T-A P4_Dst ***
20719471-T-G 18557585-T-G P4_Prx ***
20719468-G-A 18557582-G-A P4_Prx ***
20719456-A-T 18557570-A-T P4_Prx ***
20663385-A-G 18501499-A-G P4_Prx ***
20612497-A-T 18450611-A-T P4_Prx ***
20607549-G-A 18445663-G-A P5_Dst ***
20887694-T-A 18725808-T-A P4_Dst ***
20544202-C-T 18382316-C-T P5_Dst ***
20537857-T-A 18375971-T-A P5_Dst ***
20368247-C-T 18206361-C-T P5_Dst ***
20368244-T-A 18206358-T-A P5_Dst ***
20368216-T-C 18206330-T-C P5_Dst ***
20368213-A-G 18206327-A-G P5_Dst ***
20368212-C-T 18206326-C-T P5_Dst ***
20887692-G-T 18725806-G-T P4_Dst ***
20974420-T-A 18812534-T-A P4_Dst ***
20367981-A-G 18206095-A-G P5_Dst ***
22250041-T-A 20088155-T-A DYZ19 ***
22330091-A-T 20168205-A-T DYZ19 ***
22330090-T-G 20168204-T-G DYZ19 ***
22314592-A-T 20152706-A-T DYZ19 ***
22314587-A-T 20152701-A-T DYZ19 ***
22297268-T-C 20135382-T-C DYZ19 ***
22297256-G-C 20135370-G-C DYZ19 ***
22250067-T-A 20088181-T-A DYZ19 ***
22248726-T-G 20086840-T-G DYZ19 ***
20974421-T-A 18812535-T-A P4_Dst ***
22236494-G-T 20074608-G-T DYZ19 ***
22234348-C-T 20072462-C-T DYZ19 ***
22232183-T-C 20070297-T-C DYZ19 ***
22226668-T-C 20064782-T-C DYZ19 ***
22223303-A-T 20061417-A-T DYZ19 ***
20974454-T-A 18812568-T-A P4_Dst ***
20974453-T-A 18812567-T-A P4_Dst ***
20368204-G-A 18206318-G-A P5_Dst ***
20005659-A-T 17893779-A-T P5_Prx ***
10092338-C-A 10254729-C-A ***
13256115-C-A 11100439-C-A ***
13473355-G-A 11317679-G-A ***
13473354-G-A 11317678-G-A ***
13473347-C-A 11317671-C-A ***
13473346-C-A 11317670-C-A ***
13473337-C-A 11317661-C-A ***
13470299-C-T 11314623-C-T ***
13256151-A-G 11100475-A-G ***
13256107-A-C 11100431-A-C ***
13485197-A-T 11329521-A-T ***
13139996-A-G 10629482-A-G ***
13134914-A-C 10624400-A-C ***
13110382-C-T 10599868-C-T ***
13110380-A-C 10599866-A-C ***
10092351-C-T 10254742-C-T ***
10092345-T-A 10254736-T-A ***
10092344-A-G 10254735-A-G ***
13473398-G-T 11317722-G-T ***
13485225-C-A 11329549-C-A ***
19760026-A-T 17648146-A-T P5_Prx ***
16309193-C-A 14197313-C-A ***
19728712-T-A 17616832-T-A P5_Prx ***
19714033-A-T 17602153-A-T P5_Prx ***
19714029-A-T 17602149-A-T P5_Prx ***
19714009-A-T 17602129-A-T P5_Prx ***
19714008-A-T 17602128-A-T P5_Prx ***
17994779-A-T 15882899-A-T P7_Prx ***
17527321-C-A 15415441-C-A ***
15798254-A-G 13686374-A-G ***
13500058-A-G 11344382-A-G ***
14491217-G-A 12370486-A-. ***
14441708-T-G 12320981-T-G ***
13878017-A-C 11757311-A-C ***
13877975-G-A 11757269-G-A A13701 ***
13876403-T-C 11755697-T-C ***
13730450-A-G 11574774-A-G ***
13698845-T-A 11543169-T-A ***
13698841-T-A 11543165-T-A ***
59006823-AAAAT-CACAC 56860676-AAAAT-CACAC ***

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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