Thobie

BigY3: IN97749
MDKA Birth: France > Nouvelle-Aquitaine 1799

Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > Z195/S355 > Z198 > CTS4188 > S14445 > S11121 > FGC25437

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
IN97749
8303469-C-CT 8435428-C-CT 10×TA*
21826792-A-AT 19664906-A-AT 10×TA*
13447109-T-C 11291433-T-C A*
10746994-A-G A*
10762822-T-A A*
10762825-G-C A*
13478411-C-A 11322735-C-A A*
13478419-G-T 11322743-G-T A*
13478427-G-T 11322751-G-T A*
6418390-G-GA 6550349-G-GA 11×AA*
28784669-G-A 26638522-G-A A*
18325701-A-T 16213821-A-T P6_Prx 27×TA*
26116575-A-C 23970428-A-C P1_Y1 A*
28805731-T-G 26659584-T-G A*
56834335-T-C A*
6169811-G-A 6301770-G-A IR3_Dst A*
6169812-C-A 6301771-C-A IR3_Dst A*
13273844-G-T 11118168-G-T A*
13452222-C-T 11296546-C-T A*
19681985-C-G 17570105-C-G P5_Prx A*
19756250-G-A 17644370-G-A P5_Prx A*
19853071-C-T 17741191-C-T P5_Prx A*
20657948-C-A 18496062-C-A P4_Prx A*
22282461-T-G 20120575-T-G DYZ19 A*
22345046-C-T 20183160-C-T DYZ19 A*
23317052-C-CT 21155166-C-CT 9×TA*
25864428-G-A 23718281-G-A P1_Y1 A*
26040337-G-C 23894190-G-C P1_Y1 A*
26040766-A-G 23894619-A-G P1_Y1 A*
26319588-G-A 24173441-G-A P1_Y1 A*
56831646-C-T A*
8846069-C-T 8978028-C-T BY363BY363 YY+
13600080-GATGAA-G 11444404-GATGAA-G 4×ATGAA+
22271214-G-A 20109328-G-A BY33473 FGC38936 DYZ19 +
8020091-C-A 8152050-C-A FT228615 YY+
19461934-C-A 17350054-C-A FGC71761 Y+
13976534-A-G 11855828-A-G FT228823 Y+
19269186-C-A 17157306-C-A FTA46471 YY+
6093469-G-T 6225428-G-T FT81662 +
13590914-C-T 11435238-C-T FT445989 +
2757920-C-T 2889879-C-T FT227910 YY+
3109275-C-G 3241234-C-G FT227961 +
5181208-A-T 5313167-A-T FTA48002 +
5202794-T-C 5334753-T-C FTA48008 +
5330117-C-T 5462076-C-T FT228278 +
5419975-A-G 5551934-A-G FT152705 +
5919132-G-T 6051091-G-T FTA48162 +
5977664-C-T 6109623-C-T FTA48175 +
6027957-A-G 6159916-A-G FT56589 +
6456553-A-G 6588512-A-G FT228423 +
6753129-C-T 6885088-C-T YY+
7316039-C-G 7447998-C-G FTA44585 YY+
7797317-C-T 7929276-C-T FT67191 YY+
7850422-C-A 7982381-C-A BY160463 YY+
8610772-A-G 8742731-A-G FT228692 YY+
8816605-T-C 8948564-T-C FTA44946 Y+
10668064-C-T +
11009765-A-G FT393547 +
13569984-G-A 11414308-G-A FT445519 +
13918069-T-C 11797363-T-C FT153636 Y+
14221159-T-C 12100453-T-C FT228855 YY+
14254274-A-T 12133568-A-T FT228860 YY+
16770395-A-G 14658515-A-G FTA45825 YY+
19055831-T-G 16943951-T-G FT229453 Y+
19410449-G-A 17298569-G-A YY+
21463663-C-T 19301777-C-T FTA46717 YY+
21756124-C-A 19594238-C-A FT229612 YY+
21919863-GTGTT-G 19757977-GTGTT-G +
22727682-TC-T 20565796-TC-T +
23813528-A-T 21651642-A-T FTA47227 Y+
28756736-A-G 26610589-A-G FT285226 Y+
10684004-T-TATTCC *
13864615-GGAATGGAATA-G,GGAATGGAATG 11743909-GGAATGGAATA-G,GGAATGGAATG *
6376631-C-A 6508590-C-A *
21965236-T-C 19803350-T-C PF5107 **
3563017-A-G 3694976-A-G **
18829335-C-CAT 16717455-C-CAT **
13140483-C-CAATCA 10629969-C-CAATCA **
7165183-A-AT 7297142-A-AT 8×T**
22769593-CTGTTGTTGT-C 20607707-CTGTTGTTGT-C 11×TGT**
20510924-A-T 18349038-A-T P5_Dst **
13481505-C-T 11325829-C-T **
22477227-G-T 20315341-G-T DYZ19 **
27575959-G-A 25429812-G-A P1_Y2 **
10961468-A-T **
14517427-T-TTA 12405628-T-TTA **
7001658-C-CT 7133617-C-CT 11×T**
26314357-T-A 24168210-T-A P1_Y1 **
18540189-C-A 16428309-C-A **
2861344-G-A 2993303-G-A **
19387750-A-T 17275870-A-T **
26293494-CA-C 24147347-CA-C P1_Y1 **
5378192-CAA-C 5510151-CAA-C 21×A**
20433669-T-TATAG 18271783-T-TATAG P5_Dst 6×ATAG**
3206771-A-G 3338730-A-G **
3473234-C-T 3605193-C-T FT228007 **
3542034-G-A 3673993-G-A **
4113559-T-C 4245518-T-C **
4734438-T-A 4866397-T-A **
5381184-G-A 5513143-G-A **
5701927-A-G 5833886-A-G **
5864602-A-G 5996561-A-G **
6634774-G-A 6766733-G-A **
6954876-C-A 7086835-C-A **
10047716-G-A 10210107-G-A **
13348424-A-C 11192748-A-C **
13932150-TA-T 11811444-TA-T **
14146000-A-G 12025294-A-G FT228845 **
14157236-T-C 12036530-T-C **
15803683-A-T 13691803-A-T **
16383960-C-G 14272080-C-G **
17432536-G-T 15320656-G-T **
17541567-G-A 15429687-G-A **
17827513-G-A 15715633-G-A **
17827515-T-C 15715635-T-C **
17827520-C-G 15715640-C-G **
18056794-C-T 15944914-C-T **
18937242-G-A 16825362-G-A **
19065747-C-T 16953867-C-T FTB7700 **
19433838-G-GT 17321958-G-GT **
20585373-T-C 18423487-T-C P5_Dst **
20629811-G-GT 18467925-G-GT P4_Prx 8×T**
21367837-TTA-T 19205951-TTA-T **
21634632-T-C 19472746-T-C **
21806220-T-C 19644334-T-C **
22457980-C-T 20296094-C-T BY157029 DYZ19 **
22470352-T-C 20308466-T-C DYZ19 **
22476418-C-T 20314532-C-T DYZ19 **
23028249-A-G 20866363-A-G **
24890194-G-C 22744047-G-C g1 **
26138827-C-T 23992680-C-T P1_Y1 **
28524973-T-A 26378826-T-A **
28619344-G-A 26473197-G-A **
28685756-T-A 26539609-T-A FT229885 **
13473398-G-T 11317722-G-T ***
13481418-T-A 11325742-T-A ***
5637970-A-C 5769929-A-C ***
13864574-T-C 11743868-T-C FT242522 ***
13473420-T-A 11317744-T-A ***
2732430-CT-C 2864389-CT-C 10×T***
13473385-C-T 11317709-C-T ***
13473412-T-C 11317736-T-C ***
9403270-TACAC-T,TAC 9565661-TACAC-T,TAC 17×AC***
10658435-T-C ***
22128527-CT-C 19966641-CT-C 9×T***
13577983-T-C 11422307-T-C ***
16786065-T-TA 14674185-T-TA 9×A***
8468065-CAAAAAA-C 8600024-CAAAAAA-C 24×A***
14659444-CAA-C 12547509-CAA-C 13×A***
9956378-AAAG-A 10118769-AAAG-A 8×AAG***
9956377-AAAAG-A 10118768-AAAAG-A ***
13485587-C-A 11329911-C-A ***
13468052-C-A 11312376-C-A ***
13811102-T-C 11690396-T-C ***
9909170-G-A 10071561-G-A ***
3341780-GT-G 3473739-GT-G 11×T***
6948092-GTTT-G 7080051-GTTT-G 31×T***
13481341-G-A 11325665-G-A ***
13485911-A-G 11330235-A-G ***
13455064-C-G 11299388-C-G BY31566 ***
18585652-G-C 16473772-G-C ***
19279358-G-GA 17167478-G-GA 10×A***
13481486-A-C 11325810-A-C ***
5400870-CTT-C,CT 5532829-CTT-C,CT 21×T***
28496348-CAA-C,CA 26350201-CAA-C,CA 18×A***
13452376-C-G 11296700-C-G ***
13452356-CCAT-C 11296680-CCAT-C ***
19272142-CAAAAA-C,CAAAA 17160262-CAAAAA-C,CAAAA 18×A***
3763674-TA-T 3895633-TA-T 10×A***
16593888-A-C 14482008-A-C ***
15070366-G-C 12958457-G-C ***
5178062-CAAAAAA-C,CAAAAA 5310021-CAAAAAA-C,CAAAAA 20×A***
6694444-CTTT-C,CTT 6826403-CTTT-C,CTT 20×T***
4269146-G-T 4401105-G-T ***
6093476-G-A 6225435-G-A FT114943 ***
6712184-T-A 6844143-T-A ***
7048328-A-T 7180287-A-T ***
7131941-G-T 7263900-G-T ***
7201215-T-C 7333174-T-C ***
8296651-T-C 8428610-T-C ***
13371804-C-A 11216128-C-A ***
13466239-T-A 11310563-T-A ***
13485941-C-T 11330265-C-T ***
13607610-A-AG 11451934-A-AG ***
14129716-T-C 12009010-T-C ***
15410481-A-T 13298601-A-T ***
15882597-AT-A 13770717-AT-A ***
16431948-G-T 14320068-G-T ***
17968181-C-T 15856301-C-T ***
18366163-G-GAGAA 16254283-G-GAGAA P6_Prx 4×AGAA***
18819629-T-C 16707749-T-C ***
19041455-C-A 16929575-C-A ***
21241942-A-G 19080056-A-G ***
21277556-T-C 19115670-T-C ***
21380415-G-A 19218529-G-A ***
21846605-A-G 19684719-A-G ***
22744223-A-G 20582337-A-G ***
23050154-A-G 20888268-A-G ***
23801752-AAAAAAAAAAAAAG-A,AAAAAAAAAAAAAA 21639866-AAAAAAAAAAAAAG-A,AAAAAAAAAAAAAA ***

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.