Blake

BigY3: N144826
MDKA Birth: United States > Tennessee

Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > DF21/S192 > S5488 > FGC11358

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
N144826
20500806-A-G 18338920-A-G P5_Dst A*
13471232-G-C 11315556-G-C A*
20579310-A-T 18417424-A-T P5_Dst A*
28816641-A-G 26670494-A-G A*
20885850-C-A 18723964-C-A P4_Dst A*
28817700-A-T 26671553-A-T A*
20927094-G-T 18765208-G-T P4_Dst A*
20265823-C-T 18103937-C-T P5_Dst A*
14435049-T-G 12314322-T-G YA*
16097150-T-TC 13985270-T-TC A*
16097159-A-C 13985279-A-C A*
16097164-T-C 13985284-T-C A*
16097179-T-G 13985299-T-G A*
16115884-C-T 14004004-C-T FT451992 P8_Prx A*
16144740-G-T 14032860-G-T P8_Dst A*
16144809-T-C 14032929-T-C P8_Dst A*
16147884-A-C 14036004-A-C P8_Dst A*
16154946-C-A 14043066-C-A P8_Dst A*
16156885-G-A 14045005-G-A P8_Dst A*
18013154-A-T 15901274-A-T P7_Dst YA*
18439697-C-T 16327817-C-T P6_Dst A*
18450437-C-A 16338557-C-A P6_Dst A*
18485743-A-G 16373863-A-G P6_Dst A*
18500431-A-G 16388551-A-G P6_Dst A*
18523491-A-G 16411611-A-G P6_Dst A*
19704238-G-A 17592358-G-A P5_Prx A*
19854961-G-A 17743081-G-A P5_Prx A*
19860855-G-T 17748975-G-T P5_Prx 27×TA*
20034687-G-A 17922807-G-A P5_Prx A*
20075510-C-T 17963630-C-T P5_Dst A*
20078070-A-G 17966190-A-G P5_Dst A*
20107121-T-C 17995241-T-C P5_Dst A*
20219165-G-T 18057279-G-T P5_Dst A*
20230252-G-C 18068366-G-C P5_Dst A*
20244964-T-C 18083078-T-C P5_Dst A*
20245792-T-C 18083906-T-C P5_Dst A*
20246774-T-C 18084888-T-C P5_Dst A*
20247821-G-T 18085935-G-T P5_Dst A*
20256435-A-G 18094549-A-G P5_Dst A*
20272594-T-C 18110708-T-C P5_Dst A*
20298393-C-A 18136507-C-A P5_Dst A*
20299505-T-C 18137619-T-C P5_Dst A*
20308635-A-G 18146749-A-G P5_Dst A*
20309729-T-C 18147843-T-C P5_Dst A*
20310287-C-T 18148401-C-T P5_Dst A*
20310873-C-A 18148987-C-A P5_Dst A*
20321788-A-G 18159902-A-G P5_Dst A*
20322428-A-G 18160542-A-G P5_Dst A*
20324814-C-T 18162928-C-T P5_Dst A*
20326698-G-A 18164812-G-A P5_Dst A*
20342335-G-T 18180449-G-T P5_Dst A*
20342619-A-G 18180733-A-G P5_Dst A*
20367533-A-G 18205647-A-G P5_Dst A*
20369757-T-C 18207871-T-C P5_Dst A*
20395306-A-C 18233420-A-C P5_Dst A*
20401321-A-G 18239435-A-G P5_Dst A*
20401375-T-C 18239489-T-C P5_Dst A*
20404016-G-T 18242130-G-T P5_Dst A*
20505625-A-T 18343739-A-T P5_Dst A*
20506650-G-T 18344764-G-T P5_Dst A*
20506675-G-T 18344789-G-T P5_Dst A*
20509387-G-T 18347501-G-T P5_Dst A*
20535510-A-G 18373624-A-G P5_Dst A*
20562760-C-A 18400874-C-A P5_Dst A*
20595750-T-A 18433864-T-A P5_Dst A*
20597380-A-G 18435494-A-G P5_Dst A*
20602005-T-C 18440119-T-C P5_Dst A*
20634892-C-T 18473006-C-T P4_Prx A*
20651266-G-A 18489380-G-A P4_Prx A*
20708338-T-C 18546452-T-C P4_Prx A*
20847789-G-A 18685903-G-A P4_Dst A*
20865301-T-C 18703415-T-C P4_Dst A*
20883624-T-A 18721738-T-A P4_Dst A*
20883628-C-T 18721742-C-T P4_Dst A*
20883639-C-T 18721753-C-T P4_Dst A*
20896653-A-G 18734767-A-G P4_Dst A*
20897380-A-G 18735494-A-G P4_Dst A*
20897414-A-G 18735528-A-G P4_Dst A*
20938425-A-G 18776539-A-G P4_Dst A*
20953262-A-G 18791376-A-G P4_Dst A*
20953930-G-A 18792044-G-A P4_Dst A*
20954279-T-C 18792393-T-C P4_Dst A*
20965023-G-A 18803137-G-A P4_Dst A*
20992908-C-T 18831022-C-T P4_Dst A*
20993598-C-CAA 18831712-C-CAA P4_Dst 17×AA*
21009430-T-C 18847544-T-C P4_Dst YA*
21009441-T-C 18847555-T-C P4_Dst YA*
21019644-T-C 18857758-T-C P4_Dst YA*
21021139-A-G 18859253-A-G P4_Dst YA*
22290740-T-G 20128854-T-G DYZ19 A*
24282683-C-T 22136536-C-T P3_t1 A*
25872154-G-A 23726007-G-A P1_Y1 A*
25976016-G-A 23829869-G-A P1_Y1 A*
25988531-T-A 23842384-T-A P1_Y1 A*
26034462-G-T 23888315-G-T P1_Y1 A*
26079891-C-G 23933744-C-G P1_Y1 A*
26145174-G-T 23999027-G-T P1_Y1 A*
56826668-G-A A*
5758260-C-T 5890219-C-T Z15122 +
14326808-C-T 12206102-C-T BY54621 YY+
7256164-G-T 7388123-G-T FT19081 Y+
16688274-G-A 14576394-G-A Y133958 YY+
20780769-T-A 18618883-T-A P4_Prx +
3605099-T-G 3737058-T-G FT15479 +
4344532-G-A 4476491-G-A FT16367 +
5437717-A-G 5569676-A-G FT17572 +
5989345-T-C 6121304-T-C FT18234 +
7109122-C-T 7241081-C-T Y+
7250556-G-C 7382515-G-C FT19077 YY+
7267096-G-A 7399055-G-A BY64262 YY+
7321233-G-C 7453192-G-C FT19133 YY+
7581450-A-G 7713409-A-G BY66032 YY+
7788229-A-T 7920188-A-T FT19431 YY+
8074398-G-T 8206357-G-T FT19628 Y+
8274634-T-C 8406593-T-C FT19758 YY+
8694311-A-G 8826270-A-G FT20080 YY+
9991520-C-G 10153911-C-G FT45473 Y+
10063153-TAAG-T 10225544-TAAG-T +
10657218-G-A FT45474 +
10946108-C-T FT45475 +
13262729-G-A 11107053-G-A FT45479 +
13281025-C-A 11125349-C-A FT45480 +
13281026-C-A 11125350-C-A FT45481 +
13289770-C-T 11134094-C-T BY12851 +
13346198-G-A 11190522-G-A FT45482 +
13490322-G-A 11334646-G-A FT45483 +
13630012-C-T 11474336-C-T FT45484 +
13646026-C-T 11490350-C-T FT45476 +
13668291-C-T 11512615-C-T +
13895241-G-A 11774535-G-A FT20781 YY+
14168395-C-T 12047689-C-T YY+
15106573-T-A 12994661-T-A FT34469 YY+
15223424-GTC-G 13111510-GTC-G +
15226253-C-CT 13114339-C-CT +
15519676-C-T 13407796-C-T FT22091 YY+
15858842-C-T 13746962-C-T FT22325 YY+
15990619-T-C 13878739-T-C BY105353 YY+
16242235-G-A 14130355-G-A FT22544 YY+
16960282-G-A 14848402-G-A BY111415 YY+
17109928-G-C 14998048-G-C BY112359 YY+
17188590-G-C 15076710-G-C FT23279 YY+
18196770-C-T 16084890-C-T BY120758 YY+
18207936-A-G 16096056-A-G FT24168 YY+
18598835-T-G 16486955-T-G BY122464 YY+
18690526-A-G 16578646-A-G FT24386 YY+
18706106-G-A 16594226-G-A BY123284 YY+
19225919-A-G 17114039-A-G FT24783 YY+
19324024-A-G 17212144-A-G FT35068 YY+
20834498-C-G 18672612-C-G FT283951 P4_Gap +
21127683-C-T 18965797-C-T BY195757 YY+
21622741-T-C 19460855-T-C FT35200 YY+
21908869-G-A 19746983-G-A FT25762 YY+
22055807-G-GA 19893921-G-GA +
22293716-A-G 20131830-A-G BY52387 DYZ19 +
22462709-A-G 20300823-A-G FT458039 DYZ19 +
22466789-G-T 20304903-G-T FT45487 DYZ19 +
22474133-T-C 20312247-T-C FT45478 DYZ19 +
22487074-AG-A 20325188-AG-A DYZ19 +
22893275-C-T 20731389-C-T FT26259 YY+
17905236-A-AT 15793356-A-AT 10×T*
18392975-CCTTTCTTTCTTT-C 16281095-CCTTTCTTTCTTT-C P6_Gap 15×CTTT*
21929600-G-GTATA 19767714-G-GTATA 12×TA*
56838228-C-A *
8398537-TAA-T,TA 8530496-TAA-T,TA 13×A*
7229103-A-ACCCCTAC 7361062-A-ACCCCTAC *
13138442-C-T 10627928-C-T **
26084860-TTTATTA-T 23938713-TTTATTA-T P1_Y1 10×TTA**
22542294-CT-C 20380408-CT-C 8×T**
21996368-C-T 19834482-C-T **
6134867-C-G 6266826-C-G FT362537 **
6134868-C-G 6266827-C-G FT362538 **
7197627-T-C 7329586-T-C FTB2427 **
13620799-G-T 11465123-G-T **
14737344-T-G 12625412-T-G **
14737350-A-G 12625418-A-G **
14737356-G-A 12625424-G-A **
14963261-A-AC 12851336-A-AC **
21475334-C-T 19313448-C-T **
22872605-G-A 20710719-G-A **
24310306-C-CACAT 22164159-C-CACAT P3_t1 8×AT**
28027982-ATTTT-A 25881835-ATTTT-A P1_Y2 17×T**
27967355-TAGAG-T 25821208-TAGAG-T P1_Y2 14×AG***
17304689-CAGATAGAT-C 15192809-CAGATAGAT-C 11×AGAT***
21824255-CA-C 19662369-CA-C 30×A***
22167224-CA-C 20005338-CA-C 29×A***
14948794-T-TTA 12836868-T-TTA ***
10992094-GTCCAC-G ***
3451416-G-T 3583375-G-T ***
5407460-G-C 5539419-G-C FT17537 ***
6024536-TTGTG-T,TTG 6156495-TTGTG-T,TTG 15×TG***
13486746-C-G 11331070-C-G ***
12372573-CTA-C ***
16309359-T-C 14197479-T-C ***
23416012-CTT-C,CT 21254126-CTT-C,CT 12×T***

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.