1k Genomes

1kG: HG04222
MDKA Birth: United Kingdom
Indian Telugu in the UK

Tree Position

A0-T-YP2191 > P305[A1] > A1b > BT/A1b2 > M168/PF1416[CT] > P143[CF] > M89/PF2746[F] > F1329/M3658[GHI > F929[HIJK] > L901/M2939[H] > Exact position not yet finalized.

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
HG04222
4597763-T-C 4729722-T-C 12531592-G-TFT28080 +
13824847-T-C 11704141-T-C +
22243399-G-A 20081513-G-A FGC33687 FGC50888 DYZ19 +
2748435-A-G 2880394-A-G Z34487 YY+
3104039-C-T 3235998-C-T FT316088 +
3582828-A-G 3714787-A-G FT317819 +
3651293-C-T 3783252-C-T FT318011 +
3756606-G-A 3888565-G-A FT2481 +
4039192-A-G 4171151-A-G FT319311 +
4273411-T-C 4405370-T-C FT132703 +
4659907-A-T 4791866-A-T FT321333 +
4838788-G-T 4970747-G-T FT321870 +
4847725-T-C 4979684-T-C FT321885 +
5038476-A-G 5170435-A-G FT322510 +
5284207-A-G 5416166-A-G FT323404 +
5414475-G-C 5546434-G-C FT323830 +
5498743-T-C 5630702-T-C FT324107 +
5764440-T-A 5896399-T-A FT324997 +
5831027-A-T 5962986-A-T FT128211 +
5963490-A-C 6095449-A-C FT325626 +
5979354-G-T 6111313-G-T FT325692 +
6102347-G-A 6234306-G-A FT326152 +
6435650-G-A 6567609-G-A FT326537 +
6748357-A-G 6880316-A-G FT303324 YY+
6928982-G-A 7060941-G-A Z34488 Y+
6944553-G-A 7076512-G-A Z34489 YY+
7062690-A-G 7194649-A-G FT303426 Y+
7151247-C-T 7283206-C-T FT303461 YY+
7268072-C-T 7400031-C-T Z42782 YY+
7332665-A-C 7464624-A-C FT303523 YY+
7346340-T-A 7478299-T-A FT303530 Y+
7742478-T-C 7874437-T-C FT303628 YY+
7821931-T-C 7953890-T-C FT303655 YY+
7851283-TTTTG-T 7983242-TTTTG-T 6×TTTG+
7985566-C-T 8117525-C-T Y+
8060480-A-G 8192439-A-G FT303759 YY+
8096188-A-G 8228147-A-G FT303772 YY+
8370790-T-C 8502749-T-C Y+
8427105-T-C 8559064-T-C FT303898 YY+
8458481-T-C 8590440-T-C FT303903 YY+
8517227-G-T 8649186-G-T FT303924 YY+
8616718-G-T 8748677-G-T ZS3976 YY+
8671723-C-G 8803682-C-G FT303977 Y+
8764463-G-A 8896422-G-A ZS6213 YY+
8855740-A-G 8987699-A-G FT304044 Y+
8910775-A-G 9042734-A-G FT304062 +
8910863-A-G 9042822-A-G FT304063 +
9168092-A-G 9330483-A-G FT304113 Y+
9380005-A-G 9542396-A-G FT327882 Y+
9474947-G-A 9637338-G-A FT327976 +
9822002-G-A 9984393-G-A FT304143 YY+
9948030-A-G 10110421-A-G Y+
9988613-C-A 10151004-C-A Y+
10083500-T-A 10245891-T-A +
13142069-T-A 10631555-T-A +
13273557-C-G 11117881-C-G +
13314439-A-G 11158763-A-G +
13341671-G-A 11185995-G-A +
13393608-G-A 11237932-G-A +
13497359-G-A 11341683-G-A +
13586086-C-T 11430410-C-T +
13636897-G-A 11481221-G-A +
13717300-G-A 11561624-G-A FT307992 +
13828055-T-G 11707349-T-G FT328575 +
13942957-TC-T 11822251-TC-T +
13952451-C-T 11831745-C-T FT269767 Y+
13965645-G-A 11844939-G-A FT304225 Y+
13979516-C-T 11858810-C-T Y+
13980334-G-A 11859628-G-A Y+
13980355-T-A 11859649-T-A Y+
14007185-G-A 11886479-G-A FT304249 Y+
14168607-C-T 12047901-C-T YY+
14305989-A-C 12185283-A-C Y+
14409178-T-C 12288475-T-C FT304435 YY+
14569998-C-T 12458198-C-T Y27357 YY+
14587808-G-A 12476008-G-A FT304504 YY+
14985060-G-A 12873128-G-A MF3981 YY+
15029040-T-C 12917128-T-C FT304631 YY+
15354753-T-C 13242872-T-C FT304732 YY+
15357148-C-T 13245267-C-T Y134101 YY+
15500729-G-A 13388849-G-A Y129078 YY+
15894984-G-GA 13783104-G-GA +
15942107-A-G 13830227-A-G FT304908 YY+
16547003-C-T 14435123-C-T BY41974Y96655 YY+
16548064-C-A 14436184-C-A FT305078 YY+
16600164-C-A 14488284-C-A FT305094 YY+
16702842-C-T 14590962-C-T FT305133 Y+
16783090-T-A 14671210-T-A FT305158 YY+
16790748-C-G 14678868-C-G FT305159 YY+
16911586-G-A 14799706-G-A FT305208 YY+
16992792-T-C 14880912-T-C FT305227 YY+
17133283-G-T 15021403-G-T FT305272 YY+
17180395-C-A 15068515-C-A FT305287 YY+
17269779-C-T 15157899-C-T FT305311 Y+
17346216-C-T 15234336-C-T FT305342 YY+
17510524-C-A 15398644-C-A FT305403 YY+
17635471-A-T 15523591-A-T Y+
17752753-G-C 15640873-G-C FT305465 YY+
17898345-A-G 15786465-A-G Y+
18092349-G-T 15980469-G-T FT305594 YY+
18132934-A-G 16021054-A-G FT305615 Y+
18219655-A-T 16107775-A-T FT305650 Y+
18260950-T-C 16149070-T-C FT305665 +
18561618-C-T 16449738-C-T FT305704 YY+
18791775-G-A 16679895-G-A Y+
19030219-G-A 16918339-G-A FT305861 Y+
19118573-C-T 17006693-C-T FT305918 YY+
19200178-C-T 17088298-C-T FT305952 YY+
19233324-C-A 17121444-C-A FT305965 YY+
21090418-G-A 18928532-G-A FT306131 YY+
21111525-A-G 18949639-A-G YY+
21400244-T-A 19238358-T-A FT306244 YY+
21607071-C-T 19445185-C-T FT306332 YY+
21874218-A-G 19712332-A-G FT306406 YY+
21876554-A-G 19714668-A-G FT306408 YY+
21904668-G-A 19742782-G-A YY+
21924027-C-T 19762141-C-T FT306421 YY+
22165392-TAA-T 20003506-TAA-T +
22196136-C-A 20034250-C-A Y+
22196202-C-T 20034316-C-T Y+
22263027-G-C 20101141-G-C BY34 DYZ19 +
22272219-G-A 20110333-G-A FT454431 DYZ19 +
22294103-C-T 20132217-C-T DYZ19 +
22346420-A-G 20184534-A-G Y27366 DYZ19 +
22446791-C-T 20284905-C-T BY13653 DYZ19 +
22468087-C-G 20306201-C-G DYZ19 +
22471938-A-G 20310052-A-G DYZ19 +
22472673-A-T 20310787-A-T DYZ19 +
22484816-G-C 20322930-G-C DYZ19 +
22485934-G-T 20324048-G-T DYZ19 +
22530793-A-C 20368907-A-C Y+
22907301-A-G 20745415-A-G YY+
22993470-G-A 20831584-G-A YY+
23070600-T-C 20908714-T-C FT306677 YY+
23103433-G-A 20941547-G-A Y+
23628348-G-C 21466462-G-C FT306847 YY+
23851455-G-T 21689569-G-T FT306881 Y+
24442267-G-A 22296120-G-A FT306921 Y+
24467356-G-A 22321209-G-A FT306935 Y+
28584806-A-G 26438659-A-G Y25629 +
28617607-T-C 26471460-T-C FT307016 Y+
28691611-A-G 26545464-A-G FT307048 +
58910978-C-A 56679893-G-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.