Benito

BigY3: IN80003
MDKA Birth: Spain > CL

Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > Z195/S355 > Z272 > S450 > Z295/S1217 > ZZ77 > Z216 > S452 > ZZ82 > Z697 > Z214 > Z279 > Y27974

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
IN80003
18510649-T-C 16398769-T-C P6_Dst A+
16013523-G-T 13901643-G-T CTS5094 YA*
58981503-T-C 56835356-T-C A*
18368634-T-TTG 16256754-T-TTG P6_Prx 17×TGA*
18374449-T-TC 16262569-T-TC P6_Prx A*
58980070-T-G 56833923-T-G A*
58979732-T-C 56833585-T-C A*
56835394-T-G A*
56835358-T-C A*
10849648-C-A A*
56836128-C-CTGCAT A*
56847611-C-G A*
13447681-T-C 11292005-T-C A*
28817242-A-G 26671095-A-G A*
56829722-A-C A*
13489650-T-A 11333974-T-A A*
56831956-T-C A*
56833012-G-C A*
56831077-C-T A*
56832726-C-T A*
56830630-C-T A*
56826604-A-T A*
56831702-A-G A*
56827665-T-C A*
18316079-G-T 16204199-G-T P6_Prx A*
19719941-T-G 17608061-T-G P5_Prx A*
20997494-C-T 18835608-C-T P4_Dst YA*
21025630-C-T 18863744-C-T P4_Dst YA*
22232644-C-G 20070758-C-G DYZ19 A*
25560286-G-A 23414139-G-A P1_gr1 A*
56831604-T-C A*
56834745-C-T A*
21637103-T-A 19475217-T-A FGC36153 YY9×A+
20560444-A-G 18398558-A-G FGC11735 P5_Dst +
6083442-A-AT 6215401-A-AT 9×T+
2692983-A-G 2824942-A-G FT250533 YY+
2759759-C-T 2891718-C-T FT250542 YY+
2760833-A-T 2892792-A-T FT250543 YY+
3049191-T-C 3181150-T-C FT250580 +
3323266-C-T 3455225-C-T FT250615 +
3429300-G-A 3561259-G-A FT250629 +
3890501-T-C 4022460-T-C FT250694 +
3991677-A-G 4123636-A-G FT250715 +
4071854-G-A 4203813-G-A FT250726 +
4518231-G-T 4650190-G-T FT250799 +
4954188-C-G 5086147-C-G FT250873 +
5057811-A-T 5189770-A-T FT250884 +
5253342-C-T 5385301-C-T FT250921 +
5405192-CA-C 5537151-CA-C +
6148491-A-C 6280450-A-C FT251046 IR3_Dst +
6993168-C-T 7125127-C-T FT251140 YY+
7168717-T-C 7300676-T-C FT251162 YY+
8070260-G-C 8202219-G-C FT126430 YY+
8708347-C-T 8840306-C-T FT251361 YY+
8725875-C-G 8857834-C-G FT251362 YY+
9776181-C-T 9938572-C-T FT251472 Y+
9986712-T-G 10149103-T-G FT373786 Y+
13688052-T-A 11532376-T-A FT448443 +
14493194-G-A 12381391-G-A Y+
15365507-AG-A 13253627-AG-A +
15521084-T-C 13409204-T-C FT251778 YY+
15622035-A-T 13510155-A-T FT251789 YY+
15677138-CG-C 13565258-CG-C +
16132672-T-A 14020792-T-A FT282229 +
16706080-G-A 14594200-G-A FT251943 Y+
16812329-C-T 14700449-C-T FT251961 YY+
17496627-A-G 15384747-A-G FT105491 YY+
17668323-CCTAGATTTTT-C 15556443-CCTAGATTTTT-C +
18119222-T-A 16007342-T-A FT252174 YY+
18137752-A-T 16025872-A-T FT252181 YY+
18137753-T-A 16025873-T-A FT252182 YY+
22356357-T-A 20194471-T-A FT455895 DYZ19 +
22437736-A-G 20275850-A-G FT456213 DYZ19 +
22560510-A-G 20398624-A-G FT252585 YY+
23314144-C-A 21152258-C-A FT252705 YY+
23590144-A-G 21428258-A-G FT252739 YY+
3200263-C-CTG 3332222-C-CTG 15×TG*
18346473-C-CTGTG 16234593-C-CTGTG P6_Prx 22×TG*
10772416-TATTCCATTCC-T *
10887326-ACCATTCCATT-A *
13550495-C-G 11394819-C-G *
10831537-GTTCCATTCCA-G *
3845140-T-TG 3977099-T-TG 11×G*
10787612-C-T *
22345049-C-T 20183163-C-T DYZ19 *
24302816-C-CA 22156669-C-CA P3_t1 24×A**
13494555-AT-A 11338879-AT-A 13×T**
19226745-CTA-C 17114865-CTA-C **
23002853-GTATATATATATATA-G 20840967-GTATATATATATATA-G 17×TA**
15012462-A-ATT 12900550-A-ATT 14×T**
13466112-A-G 11310436-A-G **
13453349-C-A 11297673-C-A **
24595430-C-A 22449283-C-A P3_t2 **
13453340-A-G 11297664-A-G **
23569342-C-A 21407456-C-A **
13453334-C-CA 11297658-C-CA **
18487753-T-C 16375873-T-C P6_Dst **
23049666-T-A 20887780-T-A **
13608401-G-A 11452725-G-A **
13608406-C-A 11452730-C-A **
13608408-G-A 11452732-G-A **
13608417-G-A 11452741-G-A **
13608422-T-A 11452746-T-A **
13608423-T-C 11452747-T-C **
13608437-C-T 11452761-C-T **
3534516-GA-G 3666475-GA-G **
5523916-G-C 5655875-G-C **
6159077-C-A 6291036-C-A IR3_Dst **
13453333-C-CGGGATGATT 11297657-C-CGGGATGATT **
13455599-CA-C 11299923-CA-C **
13608444-A-T 11452768-A-T **
13608446-C-G 11452770-C-G **
14204022-T-C 12083316-T-C **
16146491-GAAA-G 14034611-GAAA-G P8_Dst **
16309566-A-T 14197686-A-T **
18487760-A-C 16375880-A-C P6_Dst **
18487782-GCA-G 16375902-GCA-G P6_Dst **
18487789-AGT-A 16375909-AGT-A P6_Dst **
18487804-A-G 16375924-A-G P6_Dst **
18487810-A-AG 16375930-A-AG P6_Dst **
19331394-C-G 17219514-C-G **
19611207-T-C 17499327-T-C P5_Prx **
21747063-A-T 19585177-A-T **
21787782-T-C 19625896-T-C **
22446060-C-G 20284174-C-G DYZ19 **
22446071-T-A 20284185-T-A DYZ19 **
22460202-A-T 20298316-A-T DYZ19 **
24185788-C-T 22039641-C-T P3_b1 **
28439372-T-A 26293225-T-A P1_gr2 **
28439374-G-GGTAATT 26293227-G-GGTAATT P1_gr2 **
22525954-AT-A 20364068-AT-A BY4234Y2268 9×T***
24460381-A-AT 22314234-A-AT 10×T***
16184610-C-CT 14072730-C-CT 10×T***
14724629-G-A 12612697-G-A M423FGC8110 S2657 AM01261 ***
19239050-T-TTATCTATCTATC 17127170-T-TTATCTATCTATC 12×TATC***
15971487-T-C 13859607-T-C ***
15259278-C-CAA 13147362-C-CAA 15×A***
7134894-CAAA-C 7266853-CAAA-C 13×A***
13475489-T-C 11319813-T-C ***
13441613-C-A 11285937-C-A ***
2931224-G-GT 3063183-G-GT 10×T***
7018027-ATT-A,AT 7149986-ATT-A,AT 24×T***
13475589-C-G 11319913-C-G ***
14552175-TA-T,TAA 12440376-TA-T,TAA 13×A***
5535051-T-G 5667010-T-G ***
5535052-G-T 5667011-G-T ***
13475505-T-A 11319829-T-A ***
5535030-C-A 5666989-C-A ***
13457817-A-C 11302141-A-C ***
5535049-G-T 5667008-G-T ***
15971480-A-G 13859600-A-G ***
15271548-CA-C 13159637-CA-C 9×A***
15971454-C-T 13859574-C-T ***
15971475-T-G 13859595-T-G ***
23315713-CTTTTTTT-C 21153827-CTTTTTTT-C 20×T***
28596399-GT-G,GTT 26450252-GT-G,GTT 16×T***
13459510-C-T 11303834-C-T ***
13421679-CT-C,CTT 11266003-CT-C,CTT 14×T***
4503555-T-C 4635514-T-C ***
4557383-A-G 4689342-A-G ***
5211714-T-C 5343673-T-C ***
6685381-C-T 6817340-C-T ***
13458057-TTTCAA-T 11302381-TTTCAA-T ***
13459571-A-T 11303895-A-T ***
15070614-CAAAA-C,CA 12958705-CAAAA-C,CA 20×A***
15231107-G-A 13119193-G-A ***
15596465-A-G 13484585-A-G ***
17946918-T-TG 15835038-T-TG ***
21091453-G-A 18929567-G-A ***
22341046-C-T 20179160-C-T DYZ19 ***
22511628-C-T 20349742-C-T DYZ19 ***

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.