Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > FGC11134 > FGC12055 > ZZ44 > ZZ46 > FGC11293 > 11556321-T-C

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
N170462
13840815-C-CGAATGGAATG 11720109-C-CGAATGGAATG 9×GAATGA*
19950507-T-TA 17838627-T-TA P5_Prx 15×AA*
19874215-A-AT 17762335-A-AT P5_Prx 10×TA*
13545823-T-TA 11390147-T-TA 12×AA*
13889851-A-AT 11769145-A-AT 11×TA*
3058481-C-T 3190440-C-T A*
28817626-G-C 26671479-G-C A*
13463687-C-T 11308011-C-T A*
2924573-G-A 3056532-G-A A*
28817209-T-A 26671062-T-A A*
17404001-A-C 15292121-A-C YYA*
16111768-C-G 13999888-C-G P8_Prx A*
18357268-T-C 16245388-T-C P6_Prx A*
19704242-G-C 17592362-G-C P5_Prx A*
19982130-A-G 17870250-A-G P5_Prx A*
20629559-G-A 18467673-G-A P4_Prx A*
25540203-A-G 23394056-A-G P1_gr1 A*
26045983-T-A 23899836-T-A P1_Y1 A*
26059892-G-C 23913745-G-C P1_Y1 A*
14348113-T-A 12227408-T-A Y88778F18840 YY+
22192891-C-T 20031005-C-T BY18981 YY+
9396861-G-A 9559252-G-A Y64993 YY+
18095177-G-T 15983297-G-T BY55035 YY+
18052739-T-G 15940859-T-G FTB11944 YY+
2792836-C-T 2924795-C-T FTB9251 Y+
2881143-T-G 3013102-T-G FTB9284 YY+
2889110-A-G 3021069-A-G FTB15971 YY+
2941476-T-G 3073435-T-G FTB15975 +
3019530-C-G 3151489-C-G FTB15998 +
3229745-C-T 3361704-C-T FTB16042 +
3240639-G-C 3372598-G-C FTB16045 +
4381908-T-C 4513867-T-C FTB16347 +
4880754-C-CA 5012713-C-CA +
5690569-A-G 5822528-A-G FTB16652 +
6931424-C-G 7063383-C-G FTB16834 YY+
7000725-C-T 7132684-C-T FTB9437 Y+
7130993-G-A 7262952-G-A FTB9494 YY+
7963956-C-T 8095915-C-T BY69108 YY+
8552267-A-T 8684226-A-T FTB10028 YY+
8998174-A-C 9160565-A-C FTB10189 Y+
9152566-C-T 9314957-C-T FTB10257 Y+
9648569-C-A 9810960-C-A FTB16856 IR3_Prx +
9856951-A-C 10019342-A-C FTB10306 YY+
10003418-T-TG 10165809-T-TG +
10023172-G-T 10185563-G-T Y+
10072013-T-C 10234404-T-C +
10627344-A-G +
13237225-G-A 11081549-G-A +
14384765-T-A 12264061-T-A FTB10568 Y+
14667560-A-G 12555626-A-G BY21530 YY+
14786377-C-T 12674447-C-T FTB10719 YY+
14859490-C-A 12747556-C-A FTB10753 YY+
15023528-C-A 12911616-C-A FTB10820 YY+
15229233-A-G 13117319-A-G FTB10878 Y+
16722422-G-A 14610542-G-A FTB11397 Y+
17460962-A-G 15349082-A-G FTB11699 YY+
17722747-G-A 15610867-G-A FTB11806 Y+
18048315-G-A 15936435-G-A YY+
18608721-T-G 16496841-T-G FTB12106 YY+
18716543-C-T 16604663-C-T FTB12165 YY+
18985272-T-C 16873392-T-C FTB12254 YY+
19447459-G-A 17335579-G-A FTB12464 YY+
21220742-T-A 19058856-T-A FTB12599 Y+
21233456-G-C 19071570-G-C FTB12602 YY+
21785295-G-C 19623409-G-C FTB12849 YY+
21844013-A-G 19682127-A-G FTB12882 YY+
21852749-A-T 19690863-A-T FTB12886 YY+
21890627-G-A 19728741-G-A FTB12903 YY+
22598331-G-T 20436445-G-T FTB13102 YY+
27916418-A-T 25770271-A-T P1_Y2 +
16526728-C-CATAA 14414848-C-CATAA 12×ATAA*
7392188-T-TTG 7524147-T-TTG 20×TG*
13813581-CGAATG-C 11692875-CGAATG-C 9×GAATG*
13652130-GTGGAATGGAA-G 11496454-GTGGAATGGAA-G 11×TGGAA*
8739154-A-AAATAAT 8871113-A-AAATAAT 13×AAT*
3716192-G-C 3848151-G-C *
7152050-G-GCCAA 7284009-G-GCCAA *
16010125-T-C 13898245-T-C Y*
27712666-T-C 25566519-T-C P1_Y2 *
13484163-G-A 11328487-G-A **
4502577-A-G 4634536-A-G FTA21302 **
18492480-GA-G 16380600-GA-G P6_Dst 17×A**
3930563-GTA-G 4062522-GTA-G 21×TA**
28791366-A-T 26645219-A-T **
9524019-GTATATATA-G 9686410-GTATATATA-G 21×TA**
13453470-A-T 11297794-A-T **
22459053-G-T 20297167-G-T DYZ19 **
16021993-C-T 13910113-C-T **
6267680-A-C 6399639-A-C IR3_Dst **
6277678-T-G 6409637-T-G IR3_Dst **
8983396-A-G 9145787-A-G **
13484076-G-A 11328400-G-A **
13484078-G-T 11328402-G-T **
13484080-T-G 11328404-T-G **
13484087-C-T 11328411-C-T **
13484101-G-A 11328425-G-A **
13484142-C-G 11328466-C-G **
19808165-T-A 17696285-T-A P5_Prx **
22440176-G-A 20278290-G-A DYZ19 **
22774752-T-C 20612866-T-C **
23168511-T-C 21006625-T-C **
23720013-T-TTA 21558127-T-TTA **
24253746-A-G 22107599-A-G P3_b1 **
25893812-C-G 23747665-C-G P1_Y1 **
5523917-CTTT-C 5655876-CTTT-C 24×T***
17090839-ATTTT-A 14978959-ATTTT-A 29×T***
15967503-CTT-C,CT 13855623-CTT-C,CT 14×T***
14565017-C-T 12453217-C-T FT290260 ***
17158968-CTT-C,CT 15047088-CTT-C,CT 26×T***
13476563-G-C 11320887-G-C ***
13449738-CCATTCCATTCCATTC-A 11294062-CCATTCCATTCCATTC-A ***
22443573-T-A 20281687-T-A BY28173 DYZ19 ***
2864021-G-GT 2995980-G-GT ***
3967639-G-A 4099598-G-A ***
13476551-G-A 11320875-G-A ***
15271086-C-A 13159175-C-A ***
22303115-T-G 20141229-T-G DYZ19 ***
22443578-C-G 20281692-C-G 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.