Tree Position

R-P312/S116 > Z290 > L21/S145 > DF13 > DF21/S192 > FGC3213 > ZZ1 > S3058 > S424 > S426 > S190 > FGC3215 > FGC3216 > FGC3197 > FGC3198 > FGC7854

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 STRFB38
251118-A
BigY2
251118
BigY3
251118
Manual
Edits
3927225-A-G 4059184-A-G A*
20346308-G-T 18184422-G-T P5_Dst A*
28808211-C-A 26662064-C-A A*
16146473-A-AG 14034593-A-AG P8_Dst A*
20866734-G-A 18704848-G-A P4_Dst A*
5408371-C-T 5540330-C-T A*
10794313-C-T A*
10944666-ATCCACTCCATTCCATTCCACTTCA-CTCCACTCCATTCCATTCCACTTCACC +
22587865-A-T 20425979-A-T FT82211 YY++
16340147-G-GA,TA 14228267-G-GA,TA 22×A*
22441951-TAA-CCA,TCT 20280065-TAA-CCA,TCT DYZ19 *
10882078-C-CCCATT,CCCATTCCACCCCATT *
3430280-C-T 3562239-C-T *
56873406-A-C,CAA *
56833862-CTCCAA-A,CTCCAC *
56832494-CCGCACTC-CTG,GTGCGCTC *
56831760-CAT-CAA,GAC *
56832038-CGT-AGC *
13693545-TA-AG 11537869-TA-AG *
13448640-ATTCCATTCCATTCCAT-A,ATTCCATTCCAT 11292964-ATTCCATTCCATTCCAT-A,ATTCCATTCCAT *
6483040-G-T 6614999-G-T *
24798508-GT-G 22652361-GT-G P3_b2 13×T*
25174765-G-A 23028618-G-A g1 *
13449764-TATTCCATTCT-CATTCCATTCC 11294088-TATTCCATTCT-CATTCCATTCC *
13489580-C-A 11333904-C-A *
26880149-TCTC-T 24734002-TCTC-T P1_r3 6×CTC**
6240927-G-T 6372886-G-T IR3_Dst **
19579437-G-T 17467557-G-T P5_Prx **
25991259-T-C 23845112-T-C P1_Y1 **
27838034-G-T 25691887-G-T P1_Y2 **
6233655-C-A 6365614-C-A IR3_Dst **
19949692-G-T 17837812-G-T P5_Prx **
22487858-T-A 20325972-T-A DYZ19 **
13460456-C-G 11304780-C-G **
24016986-CTT-C 21870839-CTT-C 15×T**
3028920-G-A 3160879-G-A **
4749622-G-T 4881581-G-T **
8636013-C-A 8767972-C-A **
10754063-T-C **
11001920-T-C **
11001921-T-G **
13460434-T-C 11304758-T-C **
13460464-A-T 11304788-A-T **
6113024-A-T 6244983-A-T **
13536314-G-T 11380638-G-T **
14358055-C-T 12237350-C-T **
15163422-C-T 13051508-C-T **
16354860-T-C 14242980-T-C **
17616634-T-C 15504754-T-C **
20850538-C-A 18688652-C-A P4_Dst **
24439610-C-A 22293463-C-A **
56840644-T-C **
27963610-C-G 25817463-C-G P1_Y2 **
18039363-GTAAT-TTAA 15927483-GTAAT-TTAA **
6121949-G-T 6253908-G-T **
25658011-GTTTTT-G 23511864-GTTTTT-G P1_b3 24×T**
22359140-TCAG-ACAC 20197254-TCAG-ACAC DYZ19 **
22459722-C-T 20297836-C-T DYZ19 **
22475213-A-C 20313327-A-C DYZ19 **
22490572-TAAG-AAAC 20328686-TAAG-AAAC DYZ19 **
21776881-G-GA **
24575424-C-T 22429277-C-T P3_t2 **
26275051-GA-G 24128904-GA-G P1_Y1 12×A**
22358241-G-A 20196355-G-A DYZ19 **
26303567-CAA-C 24157420-CAA-C P1_Y1 30×A**
27151774-C-CAA 25005627-C-CAA P1_g3 30×A**
27380585-TC-T 25234438-TC-T P1_g3 **
27442782-G-GTT 25296635-G-GTT P1_Y2 11×T**
27545870-G-A 25399723-G-A P1_Y2 **
27864385-T-C 25718238-T-C P1_Y2 **
22359123-G-C 20197237-G-C DYZ19 **
22289232-TATCC-AGTCA 20127346-TATCC-AGTCA DYZ19 **
6124846-C-A 6256805-C-A **
16146474-AAAAGA-GAAAAG 14034594-AAAAGA-GAAAAG P8_Dst **
6133283-G-C 6265242-G-C **
10754973-A-C **
23488835-AAAAA-T 21326949-AAAAA-T **
21753345-TACC-CACT **
56763557-G-T **
9709797-T-C 9872188-T-C IR3_Prx **
19803096-T-A 17691216-T-A P5_Prx **
22270448-A-G 20108562-A-G DYZ19 **
20084056-CTA-C 17972176-CTA-C P5_Dst **
20115567-C-A 18003687-C-A P5_Dst **
20218986-C-G 18057100-C-G P5_Dst **
20227107-C-T 18065221-C-T P5_Dst **
20377933-T-C 18216047-T-C P5_Dst **
22235836-CTAACCT-AGCACCA 20073950-CTAACCT-AGCACCA DYZ19 **
22270391-AT-GC 20108505-AT-GC DYZ19 **
15320753-C-A 13208871-C-A **
20301084-T-C 18139198-T-C P5_Dst **
6977131-C-A 7109090-C-A **
13460513-G-T 11304837-G-T **
21753978-G-T **
6328305-GCA-G 6460264-GCA-G IR3_Dst **
18011005-CTT-C 15899125-CTT-C P7_Dst 20×T**
22424572-C-T 20262686-C-T DYZ19 **
56763541-G-T **
22240726-G-T 20078840-G-T DYZ19 **
3606193-C-A 3738152-C-A **
16539804-G-T 14427924-G-T A19119 **
22230319-T-C 20068433-T-C DYZ19 **
15365115-C-A 13253235-C-A **
22008569-C-A 19846683-C-A **
18616784-G-GTT 16504904-G-GTT 15×T**
9732923-C-A 9895314-C-A IR3_Prx **
19839616-G-T 17727736-G-T P5_Prx 26×A**
3627671-GAA-G 3759630-GAA-G **
58854604-A-T 56736267-T-A **
22230394-C-G 20068508-C-G BY6856 DYZ19 **
22235847-G-T 20073961-G-T DYZ19 **
22483940-AA-GG 20322054-AA-GG DYZ19 **
22364626-G-T 20202740-G-T DYZ19 **
5650593-AACAC-A 5782552-AACAC-A 18×AC**
11005134-C-A **
22260997-C-T 20099111-C-T DYZ19 **
8333707-C-A 8465666-C-A **
28816028-A-T 26669881-A-T **
13460462-G-T 11304786-G-T **
10894100-C-A **
20045208-CAAA-C 17933328-CAAA-C P5_Prx 30×A**
27443549-G-GC 25297402-G-GC FGCLR204 P1_Y2 **
11029410-C-A **
27542427-A-C 25396280-A-C P1_Y2 ***
21561310-C-A 19399424-C-A ***
22294568-TCA-CCT 20132682-TCA-CCT DYZ19 ***
22298393-ACTTC-TCTTT 20136507-ACTTC-TCTTT DYZ19 ***
28387885-G-A 26241738-G-A P1_gr2 ***
22315932-GTTAAAGG-CTTATAGT 20154046-GTTAAAGG-CTTATAGT DYZ19 ***
24648519-A-G 22502372-A-G P3_b2 ***
22358280-GTG-ATT 20196394-GTG-ATT DYZ19 ***
22358375-C-A 20196489-C-A DYZ19 ***
9199163-T-C 9361554-T-C ***
9354929-G-A 9517320-G-A ***
28378262-CAAGC-TAAGG 26232115-CAAGC-TAAGG P1_gr2 ***
22359198-A-T 20197312-A-T DYZ19 ***
28362961-C-A 26216814-C-A P1_gr2 ***
22359544-G-T 20197658-G-T DYZ19 ***
28354032-G-A 26207885-G-A P1_gr2 ***
22484000-T-A 20322114-T-A F25203 DYZ19 ***
22266014-A-C 20104128-A-C DYZ19 ***
22361933-G-A 20200047-G-A DYZ19 ***
28392537-G-A 26246390-G-A P1_gr2 ***
15163399-A-G 13051485-A-G ***
28415802-A-C 26269655-A-C P1_gr2 ***
15163398-C-A 13051484-C-A ***
20116210-A-T 18004330-A-T P5_Dst ***
20206746-C-G 18044860-C-G P5_Dst ***
28405052-G-C 26258905-G-C P1_gr2 ***
9345834-G-A 9508225-G-A ***
28392496-G-T 26246349-G-T P1_gr2 ***
22447615-G-T 20285729-G-T DYZ19 ***
9671339-C-CT 9833730-C-CT IR3_Prx 14×T***
20287308-G-A 18125422-G-A P5_Dst ***
28387892-C-T 26241745-C-T P1_gr2 ***
20381020-C-A 18219134-C-A P5_Dst ***
21922080-CAAA-C,CAAAA 19760194-CAAA-C,CAAAA 23×A***
22230379-T-C 20068493-T-C BY51316 DYZ19 ***
22230389-A-C 20068503-A-C DYZ19 ***
22361571-C-T 20199685-C-T DYZ19 ***
26508060-C-T 24361913-C-T P1_Y1 ***
27493134-G-A 25346987-G-A P1_Y2 ***
7503851-AAC-A 7635810-AAC-A IR1_L 20×AC***
25280364-CTACT-ATAC,CTAC 23134217-CTACT-ATAC,CTAC P2_r1 ***
25378478-A-T 23232331-A-T P2_r2 ***
25410424-A-G 23264277-A-G P2_r2 ***
27760106-CA-C 25613959-CA-C P1_Y2 16×A***
25667964-G-C 23521817-G-C P1_b3 ***
27807386-C-A 25661239-C-A P1_Y2 ***
26025621-CTT-C 23879474-CTT-C P1_Y1 15×T***
27542530-T-C 25396383-T-C P1_Y2 ***
28000577-A-G 25854430-A-G P1_Y2 ***
27153890-C-T 25007743-C-T P1_g3 ***
22487828-G-T 20325942-G-T DYZ19 ***
27652361-T-C 25506214-T-C P1_Y2 ***
27415944-G-A 25269797-G-A P1_g3 ***
28132475-C-CT 25986328-C-CT P1_b4 15×T***
27493035-TGCCAA-CGCCCG 25346888-TGCCAA-CGCCCG P1_Y2 ***
27493053-T-C 25346906-T-C P1_Y2 ***
22487833-G-A 20325947-G-A DYZ19 ***
17663118-CAA-C 15551238-CAA-C 26×A***
28350995-G-A 26204848-G-A P1_gr2 ***
22483967-TTTT-CTTC 20322081-TTTT-CTTC DYZ19 ***
28348163-A-T 26202016-A-T P1_gr2 ***
27630540-T-G 25484393-T-G P1_Y2 ***
28343459-CC-GG 26197312-CC-GG P1_gr2 ***
22466440-C-A 20304554-C-A DYZ19 ***
27609587-CA-C 25463440-CA-C P1_Y2 10×A***
22171305-G-T 20009419-G-T ***
28245422-CTT-C 26099275-CTT-C P1_b4 15×T***
22486908-AT-GC 20325022-AT-GC DYZ19 ***
28157262-AT-A,ATT 26011115-AT-A,ATT P1_b4 16×T***
20508989-TAG-T 18347103-TAG-T P5_Dst 8×AG***
22508009-GATT-CATG,TATG 20346123-GATT-CATG,TATG DYZ19 ***
22508422-T-C 20346536-T-C DYZ19 ***
21755924-A-C ***
28225582-G-GT 26079435-G-GT P1_b4 14×T***
18514180-G-T 16402300-G-T P6_Dst ***
24581221-T-A 22435074-T-A P3_t2 ***
22459686-C-T 20297800-C-T DYZ19 ***
22230405-A-G 20068519-A-G BY6909 DYZ19 ***
16160111-A-G 14048231-A-G P8_Dst ***
23498080-ATTT-A,ATT 21336194-ATTT-A,ATT 19×T***
15001763-G-T 12889848-G-T ***
19463639-C-A 17351759-C-A ***
22209024-G-T 20047138-G-T ***
16623701-G-T 14511821-G-T ***
18717876-TAA-T,TA 16605996-TAA-T,TA 16×A***
17648009-CAAAA-C,CAAAAA 15536129-CAAAA-C,CAAAAA 17×A***
23096773-C-A 20934887-C-A ***
24509498-T-A 22363351-T-A ***
14530881-C-T 12419082-C-T FT138476 ***
27647643-G-A 25501496-G-A P1_Y2 ***
10690831-C-A ***
16356565-GA-G 14244685-GA-G 10×A***
22359529-T-G 20197643-T-G BY51691 DYZ19 ***
23194817-CTTTTTTT-C 21032931-CTTTTTTT-C 24×T***
28343506-G-A 26197359-G-A P1_gr2 ***
15481864-C-A 13369984-C-A ***
19922815-GT-G 17810935-GT-G P5_Prx 12×T***
14731376-T-C 12619444-T-C ***
4571254-CA-C 4703213-CA-C 29×A***
22510927-T-G 20349041-T-G DYZ19 ***
10779281-C-A ***
10988574-CCATTCCACTC-C,CCACTCCACAG ***
17359309-C-A 15247429-C-A ***
9951062-C-CA 10113453-C-CA 9×A***
15161292-GAAA-G,GAA 13049378-GAAA-G,GAA 22×A***
13478294-C-A 11322618-C-A ***
13478322-G-C 11322646-G-C ***
8970803-G-T 9133194-G-T ***
2707975-GTTT-G,GTT 2839934-GTTT-G,GTT 18×T***
13489568-C-T 11333892-C-T ***
15076180-CTT-C,CTTT 12964270-CTT-C,CTTT 16×T***
2805529-CAAAAA-C,CAA 2937488-CAAAAA-C,CAA 22×A***
10764575-C-A,T ***
8399388-A-G 8531347-A-G ***
15001743-C-A 12889828-C-A ***
9328988-G-A 9491379-G-A ***
10051247-T-C 10213638-T-C ***
15041597-TA-T 12929687-TA-T ***
13278611-T-C 11122935-T-C ***
23098816-CAAA-C,CA 20936930-CAAA-C,CA 25×A***
27202351-G-T 25056204-G-T P1_g3 ***
20211758-AT-A,ATT 18049872-AT-A,ATT P5_Dst 14×T***
19409391-CA-C,CAA 17297511-CA-C,CAA 22×A***
17960966-CTT-C,CT 15849086-CTT-C,CT 18×T***
14071348-ACCCGACTTT-TCCTGAC,TCCTGACTT 11950642-ACCCGACTTT-TCCTGAC,TCCTGACTT ***
12555882-CAAA-C,CAAAA 24×A***
15683628-CAA-C,CA 13571748-CAA-C,CA 24×A***
15733879-CA-C,CAA 13621999-CA-C,CAA 25×A***
18933532-C-A 16821652-C-A ***
17569226-GA-G,GAA 15457346-GA-G,GAA 25×A***
22508049-C-G 20346163-C-G DYZ19 ***
21175749-CA-C,CAA 19013863-CA-C,CAA 27×A***
22359187-T-A 20197301-T-A DYZ19 ***
22279732-A-T 20117846-A-T BY25044 DYZ19 ***
23505518-AC-AAAAA,C 21343632-AC-AAAAA,C ***
15281077-C-A 13169176-C-A ***
24573423-CT-C 22427276-CT-C P3_t2 21×T***
22359436-C-T 20197550-C-T DYZ19 ***
56851226-TG-GA,GG ***
22509231-G-C 20347345-G-C DYZ19 ***
16118279-CA-C 14006399-CA-C P8_Prx 27×A***
15281075-C-A 13169174-C-A ***
16679099-ATT-A,AT 14567219-ATT-A,AT 25×T***
27772643-TAA-T 25626496-TAA-T P1_Y2 21×A***
13246600-T-C 11090924-T-C ***
25166712-ATTTT-A 23020565-ATTTT-A g1 30×T***
20470034-ATTTT-A 18308148-ATTTT-A P5_Dst 29×T***
18195154-ATTTTTT-A 16083274-ATTTTTT-A 29×T***
22450159-C-G 20288273-C-G DYZ19 ***
22358343-G-A 20196457-G-A DYZ19 ***
27724383-C-CT 25578236-C-CT P1_Y2 12×T***
5235405-CTTTT-C 5367364-CTTTT-C 31×T***
7149640-TT-T,TA 7281599-TT-T,TA ***
13448620-A-T 11292944-A-T ***
10678015-AGGATTGCTTTCCATTGCAT-TGGACTGCGTTCCAC ***
22023684-G-GTT 19861798-G-GTT 17×T***
16768601-CTTTT-C,CTTT 14656721-CTTTT-C,CTTT 17×T***
18547340-TAA-T 16435460-TAA-T 12×A***
18438210-CA-C 16326330-CA-C P6_Dst 25×A***
13463949-T-TC 11308273-T-TC 8×C******
21235227-CAAA-C,CAA 19073341-CAAA-C,CAA 19×A***
7414277-CA-C,CAA 7546236-CA-C,CAA 27×A***
10087536-C-A 10249927-C-A ***
20998300-CA-C 18836414-CA-C P4_Dst 28×A***

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.

Mutation Notes:

Kit POSITION-REF-ALT (hg19) POSITION-REF-ALT (hg38) Note
Manual23761608-A-AAAG21599722-A-AAAGAbout 10 reads cover this insertion and all 10 look positive.
Manual20007955-A-G17896075-A-G2G
Manual19675596-G-C17563716-G-C3A 409C 432G

Haplotype Progression

The data below reveals the progression of changes in the haplotype. The bottom row is the haplotype for this man and above him are the inferred ancestral haplotypes for various upstream blocks. These inferred haplotypes are very much a work in progress, and any suggested modifications are appreciated. I think we can use our vast collection of haplotype data to refine these haplotypes. Mutations made from each upstream block are shown in sequence. The cell color is determined by the block in which the mutation took place.

DYS393
DYS390
DYS19
DYS391
DYS385
DYS426
DYS388
DYS439
DYS389i
DYS392
DYS389ii
DYS458
DYS459
DYS455
DYS454
DYS447
DYS437
DYS448
DYS449
DYS464
DYS460
Y-GATA-H4
YCAII
DYS456
DYS607
DYS576
DYS570
CDY
DYS442
DYS438
DYS531
DYS578
DYF395S1
DYS590
DYS537
DYS641
DYS472
DYF406S1
DYS511
DYS425
DYS413
DYS557
DYS594
DYS436
DYS490
DYS534
DYS450
DYS444
DYS481
DYS520
DYS446
DYS617
DYS568
DYS487
DYS572
DYS640
DYS492
DYS565
DYS710
DYS485
DYS632
DYS495
DYS540
DYS714
DYS716
DYS717
DYS505
DYS556
DYS549
DYS589
DYS522
DYS494
DYS533
DYS636
DYS575
DYS638
DYS462
DYS452
DYS445
Y-GATA-A10
DYS463
DYS441
Y-GGAAT-1B07
DYS525
DYS712
DYS593
DYS650
DYS532
DYS715
DYS504
DYS513
DYS561
DYS552
DYS726
DYS635
DYS587
DYS643
DYS497
DYS510
DYS434
DYS461
DYS435
P312/S1161324141111-14121212131329179-1011112515192915-15-17-17111119-231615181736-38121211915-1681010810101223-231610121215812222013121113111112123315916122626191211131210912121011113012132413101020151913241712152412231810141791211
L21/S1451324141111-14121212131329179-1011112515192915-15-17-17111119-231615181736-38121211915-1681010810101223-231610121215812222013121113111112123515916122526191211131211912121011113012132413101020151913241712152412231810141791211
DF21/S1921324141111-14121212131329179-1011112515192915-15-17-17111119-231615181836-38121211915-1681010810101223-231610121215812222013121113111112123515916122526191211131211912121011113012132413101020151913241712152412231810141791211
S30581324141011-14121212131329179-1011112515192915-15-17-17111119-231615181836-38121211915-1681010810101223-231610121215812222013121113111112123515916122526191211121211912121011113012132413101020151913241712152412231810141791211
S4261324141011-14121212131329179-1011112515193015-15-17-17111019-231615181838-38121211915-1691010810101222-231610121215811222014121113111112123115915122526191311121211912121011113012132413101020151913231712152412231810141791211
S1901324141011-14121212131329179-1011112515193013-15-17-17111019-231615181838-38121211915-1691010810101222-231610121215811222014121113111112123115915122526201311121211912121011113012132413101020151913231712152412231810141791211
FGC32151324141011-14121212131329189-1011112515193013-15-17-17111019-231615181838-38121211915-1691010810101222-231610121215811222014121113111112123115915122526201311121211912121011113012132413101020151913231712152412231810141791211
FGC31971324141011-14121212131329189-1011112515193013-15-17-17111019-231615181838-38121211915-1691010810101222-231610121215811222014121113111112123115915122526201311121211913121011113012132413101020151914231712152412231810141791211
FGC78541324141011-14121212131329189-1011112515193013-15-17-17111019-231615191838-38121211915-1691110810101222-231610121215811222014121113111112123115915122526201311121211913121011113012132413101020151914231712152412231810141791211
Williamson1324141011-14121212131329189-911112515193013-15-17-17111019-231615191838-38121211915-1691110810101222-231610121215811222014121113111112113115915122526201311121211913121011113012132413101020151914231712152412231810141791211

Age Analysis Information (work in progress)

AllMcDonaldYFull
Kit: 251118919191275102097422683
Kit: 2511181469208592451928233534
Kit: 251118-A*16000000100000008300000
Used in age calculations1469208592451928233534
Counts of SNPs11
Variant counts last updated 2020-05-04 03:11:05.

* BED data not available. Using default values.


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