Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > Z56 > BY3548 > Z43/S366 > Z48/S484 > BY3952 > FGC11881 > ~6254510-C-A > FGC62160 > BY187258

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 STR1kG
23317686-TG-T 21155800-TG-T +
13842083-G-A 11721377-G-A Y33632 +
19740989-T-A 17629109-T-A P5_Prx +
7415667-C-T 7547626-C-T S10253 YY+
23881858-T-C 21719972-T-C Z2884 Y+
21482757-C-T 19320871-C-T YY+
6628908-G-T 6760867-G-T Z29995 YY+
6639159-G-A 6771118-G-A FT289163 Y+
6869586-G-A 7001545-G-A FT289229 YY+
6903279-A-T 7035238-A-T FT289238 Y+
8136616-A-C 8268575-A-C FT289599 Y+
8586824-C-T 8718783-C-T YY+
8596560-T-C 8728519-T-C FT289740 YY+
8746764-G-A 8878723-G-A BY50731 YY+
8843893-C-G 8975852-C-G FT289821 YY+
9444995-C-T 9607386-C-T YP4291 YY+
14056538-T-A 11935832-T-A Y90175 Y+
15064736-G-A 12952828-G-A Y24683 YY+
15206607-C-A 13094693-C-A PH1623 YY+
17168818-T-C 15056938-T-C PH2871 YY+
17620034-A-T 15508154-A-T CTS7696 Y+
17902541-G-A 15790661-G-A Y+
18814401-C-T 16702521-C-T CTS9307 YY+
21229803-C-G 19067917-C-G PH4714 YY+
21765894-C-G 19604008-C-G PH4950 YY+
22830971-C-T 20669085-C-T FT292347 YY+
22953766-G-C 20791880-G-C CTS11099 YY+
22956203-C-T 20794317-C-T FT292373 YY+
23253927-G-A 21092041-G-A Y1124 YY+
28621851-A-G 26475704-A-G FT292751 Y+
5523890-G-T 5655849-G-T +
5523893-A-T 5655852-A-T +
7148012-GC-G 7279971-GC-G +
3319786-A-C 3451745-A-C FT82460 8×TC+
3527942-A-G 3659901-A-G +
3845151-GT-G 3977110-GT-G +
4571429-G-A 4703388-G-A FT269045 +
4636006-G-A 4767965-G-A +
4914225-T-C 5046184-T-C +
4914241-A-G 5046200-A-G +
5062472-TCAAA-T 5194431-TCAAA-T +
5405300-G-T 5537259-G-T 17×T+
5471948-G-GA 5603907-G-GA +
5491243-T-A 5623202-T-A F9368 +
5493425-TC-T 5625384-TC-T +
5508057-A-T 5640016-A-T +
5524480-CA-C 5656439-CA-C +
5776563-AG-A 5908522-AG-A +
5988462-G-T 6120421-G-T +
6183211-GGC-G 6315170-GGC-G IR3_Dst +
6684205-C-CAAAA 6816164-C-CAAAA 31×A+
6734678-TTC-T 6866637-TTC-T +
6734679-TC-T 6866638-TC-T +
7211978-T-C 7343937-T-C YY+
7321112-CAG-C 7453071-CAG-C +
8321424-G-T 8453383-G-T YY+
8702763-A-C 8834722-A-C YY+
8797785-A-C 8929744-A-C YY+
13334362-G-C 11178686-G-C +
13616970-G-C 11461294-G-C +
13962310-A-G 11841604-A-G Y+
14195748-C-G 12075042-C-G Y+
14196023-T-A 12075317-T-A Y+
14363180-TC-T 12242475-TC-T +
14372867-AT-A 12252163-AT-A +
14842428-TG-T 12730494-TG-T +
14884725-G-A 12772791-G-A YY+
14886421-G-A 12774487-G-A YY+
14981870-CTTCCT-C 12869938-CTTCCT-C +
15070480-T-G 12958571-T-G YY+
15128109-A-C 13016196-A-C YY+
15248086-G-A 13136172-G-A Y+
15335190-G-A 13223308-G-A YY+
15491862-C-A 13379982-C-A YY+
15532099-C-T 13420219-C-T YY+
15952700-A-G 13840820-A-G YY+
16288202-G-T 14176322-G-T YY+
16292516-T-A 14180636-T-A YY+
16629354-AG-A 14517474-AG-A +
16629403-C-T 14517523-C-T SK2361 YY+
16641869-G-GTA 14529989-G-GTA +
16996039-A-G 14884159-A-G Y+
17770433-C-A 15658553-C-A PH3371 YY+
19201548-G-T 17089668-G-T YY+
19388168-A-G 17276288-A-G Y+
21099756-TG-T 18937870-TG-T +
22458007-T-A 20296121-T-A DYZ19 +
22489474-T-A 20327588-T-A DYZ19 +
22661491-GTA-G 20499605-GTA-G +
22977586-A-ACAT 20815700-A-ACAT +
23084702-GC-G 20922816-GC-G +
23084703-CG-C 20922817-CG-C +
23899726-C-A 21737840-C-A +
24328649-T-G 22182502-T-G BY22869 P3_t1 +
24485626-G-T 22339479-G-T +
24494713-A-C 22348566-A-C FT332873 +
24508189-A-T 22362042-A-T +
24512424-T-G 22366277-T-G FT332907 +
24783156-C-G 22637009-C-G P3_b2 17×AG+
28385952-C-T 26239805-C-T P1_gr2 +
28385993-T-C 26239846-T-C P1_gr2 +

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:

Manual3715073-T-A3847032-T-A2A 2T
Manual6254510-C-A6386469-C-A3A 2C
Manual8828834-CA-C8960793-CA-CJust one read, but it shows the deletion.
Manual20710797-G-A18548911-G-A3A 4G
Manual22475009-T-A20313123-T-A1A 4T
Manual18276050-T-C16164170-T-C3T 2C