Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > Z195/S355 > Z198 > Z46513 > ZS312 > Z262 > M167 > Z264 > Z205 > ~22224168-A-C > Z206/S235 > Z208/S362 > Z207/S251

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
19950182-A-ATG 17838302-A-ATG P5_Prx 18×TGA*
28817609-G-T 26671462-G-T A*
28817369-T-A 26671222-T-A A*
4405409-G-A 4537368-G-A A*
28817374-T-A 26671227-T-A A*
28817280-G-T 26671133-G-T A*
20625999-T-A 18464113-T-A P4_Prx A*
20647239-A-T 18485353-A-T P4_Prx A*
25538525-A-G 23392378-A-G P1_gr1 A*
25885401-C-T 23739254-C-T P1_Y1 A*
26079864-G-A 23933717-G-A P1_Y1 A*
26244396-T-G 24098249-T-G P1_Y1 A*
5990939-G-A 6122898-G-A FT190258 +
14680701-C-T 12568767-C-T M8750 Z11805 Y+
17382470-G-C 15270590-G-C FT190686 YY+
16544627-GGGAA-G 14432747-GGGAA-G +
2659978-T-C 2791937-T-C FT189990 YY+
2830355-C-A 2962314-C-A FT190001 YY+
2835792-G-C 2967751-G-C FT190002 YY+
3147562-CT-C 3279521-CT-C +
3543544-G-T 3675503-G-T FT190066 +
4027144-C-T 4159103-C-T FT190094 +
4261038-G-A 4392997-G-A FT190117 +
4653673-C-G 4785632-C-G FT190145 +
4653980-G-T 4785939-G-T FT190146 +
4953220-T-G 5085179-T-G FT190166 +
6372970-AC-A 6504929-AC-A +
7250708-C-T 7382667-C-T FT190331 YY+
7377272-C-A 7509231-C-A FT190336 YY+
7788959-A-G 7920918-A-G FT190351 YY+
7874691-A-T 8006650-A-T FT190356 YY+
7937809-C-A 8069768-C-A FT190361 YY+
9097902-A-G 9260293-A-G FT190432 Y+
9917799-A-G 10080190-A-G FT333213 Y+
10026353-T-G 10188744-T-G FT376494 Y+
10688596-C-T FT429099 +
10876315-C-T FT435086 +
10932943-T-C FT437099 +
15003498-A-C 12891583-A-C FT190537 YY+
15436123-T-C 13324243-T-C FT190558 YY+
15547845-G-C 13435965-G-C FT190564 YY+
15710151-C-T 13598271-C-T FT190574 YY+
16263883-A-G 14152003-A-G FT190605 YY+
17361252-A-G 15249372-A-G FT190683 YY+
17506619-C-G 15394739-C-G FT190694 YY+
17866706-T-A 15754826-T-A FT190713 YY+
18095987-A-C 15984107-A-C FT190730 YY+
18765492-T-C 16653612-T-C FT190768 YY+
18834044-C-T 16722164-C-T YY+
19375261-T-G 17263381-T-G YY+
19462410-G-A 17350530-G-A FT190807 Y+
21699992-T-C 19538106-T-C FT190852 YY+
23757555-G-T 21595669-G-T FT190949 Y+
24484408-T-C 22338261-T-C FT190971 +
10657262-CTCCATTCCAT-C *
15522536-TTCTC-T 13410656-TTCTC-T **
18511265-C-A 16399385-C-A FTB46804 P6_Dst **
6595242-T-A 6727201-T-A FT12473 **
15402765-ATT-A 13290885-ATT-A 14×T**
28802596-T-G 26656449-T-G **
19913400-T-C 17801520-T-C P5_Prx **
13459147-A-G 11303471-A-G **
4336556-A-T 4468515-A-T **
6292558-C-A 6424517-C-A IR3_Dst **
6317790-C-A 6449749-C-A IR3_Dst **
6671649-G-C 6803608-G-C **
13217489-C-G 11061813-C-G **
13362811-C-G 11207135-C-G **
13459103-T-G 11303427-T-G **
13459137-A-C 11303461-A-C **
15184379-A-T 13072465-A-T **
17320051-AGAAG-A 15208171-AGAAG-A 4×GAAG**
17389889-A-G 15278009-A-G **
18619200-T-C 16507320-T-C **
19788794-C-A 17676914-C-A P5_Prx **
19815660-A-T 17703780-A-T P5_Prx **
20035048-A-G 17923168-A-G P5_Prx **
20767163-C-A 18605277-C-A P4_Prx **
21958243-AT-A 19796357-AT-A **
22471174-G-A 20309288-G-A DYZ19 **
22641388-G-T 20479502-G-T **
25007961-G-T 22861814-G-T g1 **
25007977-C-A 22861830-C-A g1 **
25239435-T-A 23093288-T-A P2_r1 **
25896141-G-T 23749994-G-T P1_Y1 **
26046692-C-A 23900545-C-A P1_Y1 **
26046727-C-A 23900580-C-A P1_Y1 **
26075661-G-T 23929514-G-T P1_Y1 **
26098113-T-A 23951966-T-A P1_Y1 **
26149102-G-T 24002955-G-T P1_Y1 **
26378820-T-A 24232673-T-A P1_Y1 **
7557-C-T **
23435181-G-GTT 21273295-G-GTT 20×T***
13623045-GT-G 11467369-GT-G 11×T***
28556570-T-TG 26410423-T-TG 9×G***
13909304-CAAAA-C 11788598-CAAAA-C 18×A***
7456724-CAAA-C 7588683-CAAA-C IR1_L 15×A***
13808748-T-TCTTCC 11688042-T-TCTTCC ***
5512875-C-CAA 5644834-C-CAA 22×A***
9913042-ATT-A 10075433-ATT-A 14×T***
8057169-G-A 8189128-G-A 12×TA***
5770338-C-CTT 5902297-C-CTT 25×T***
13695641-G-T 11539965-G-T ***
6912694-C-G 7044653-C-G ***
13808773-T-C 11688067-T-C ***
16725295-A-AGTTT 14613415-A-AGTTT 6×GTTT***
7018027-ATTT-A,AT 7149986-ATTT-A,AT 24×T***
2741101-CT-C,CTTT 2873060-CT-C,CTTT 19×T***
3845143-G-C,GC 3977102-G-C,GC ***
4018899-T-A 4150858-T-A ***
4729634-A-T 4861593-A-T ***
5523917-CTTT-C,CT 5655876-CTTT-C,CT 24×T***
5683837-T-C 5815796-T-C ***
7381030-G-A 7512989-G-A ***
9768065-C-T 9930456-C-T ***
11022638-A-ACCATT ***
14886399-CAAAA-C,CAAA 12774465-CAAAA-C,CAAA 21×A***
15399419-GAA-G,GA 13287539-GAA-G,GA 15×A***
18857159-T-G 16745279-T-G ***
22422392-G-T 20260506-G-T BY217842 DYZ19 ***
22512646-T-C 20350760-T-C DYZ19 ***
25732906-C-A 23586759-C-A P1_b3 ***

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.