Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF63/S522 > BY592 > CTS5454 > Z16245 > Z16246 > BY3070 > FT72783 > BY56496

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 STRFTDNA
7339413-C-T 7471372-C-T BY64651 YY+
7568123-C-A 7700082-C-A BY46449 YY10×A+
8292375-G-C 8424334-G-C BY71453 YY+
9777741-G-C 9940132-G-C BY80953 Y+
14006462-G-A 11885756-G-A BY92274 YY+
14474030-G-A 12353299-G-A BY95959 YY+
15052292-CTTTG-C 12940383-CTTTG-C +
16265198-G-T 14153318-G-T BY106518 YY+
16544030-G-GTA 14432150-G-GTA +
19690156-T-TAAATA 17578276-T-TAAATA P5_Prx 12×AAATA+
22444542-G-C 20282656-G-C BY219429 DYZ19 +
22465014-A-G 20303128-A-G BY221446 DYZ19 +
22910922-C-T 20749036-C-T BY141636 YY+
22922760-G-A 20760874-G-A YP4794 YY+
27356390-T-C 25210243-T-C BY2510 P1_g3 +
7012698-G-T 7144657-G-T **
9556232-A-C 9718623-A-C IR3_Prx **
13847060-A-G 11726354-A-G **
17631740-G-T 15519860-G-T CTS7727 **
28581118-T-C 26434971-T-C CTS12353 **
28692484-A-G 26546337-A-G CTS12754 **
28701928-G-A 26555781-G-A CTS12778 **
19636909-T-TAA 17525029-T-TAA P5_Prx **
13683035-A-T 11527359-A-T ***
13805495-A-T 11684789-A-T ***
13832625-A-G 11711919-A-G ***
28786048-A-G 26639901-A-G ***
13861649-A-G 11740943-A-G ***
13868439-T-A 11747733-T-A ***
13478861-C-A 11323185-C-A ***
13652220-A-G 11496544-A-G ***
13667161-T-G 11511485-T-G ***
22454459-G-C 20292573-G-C DYZ19 ***
13649651-G-C 11493975-G-C ***
13649654-A-T 11493978-A-T ***
28799711-A-T 26653564-A-T ***
13478852-G-C 11323176-G-C ***
13821160-C-A 11700454-C-A ***
13821163-A-G 11700457-A-G ***
58975502-C-A 56829355-C-A ***
13447741-T-C 11292065-T-C ***
13847425-C-A 11726719-C-A ***
13858045-C-G 11737339-C-G ***
28800239-A-G 26654092-A-G ***
13842228-G-A 11721522-G-A ***
13654351-C-A 11498675-C-A ***
19979173-T-TA 17867293-T-TA P5_Prx 13×A***
13704227-A-T 11548551-A-T ***
13471859-A-T 11316183-A-T ***
22236369-G-A 20074483-G-A DYZ19 ***
13805376-G-T 11684670-G-T ***
9738704-A-T 9901095-A-T IR3_Prx ***
9738721-T-C 9901112-T-C FT20498 IR3_Prx ***
9738722-G-C 9901113-G-C FT20499 IR3_Prx ***
9738861-C-G 9901252-C-G FT104782 IR3_Prx ***
9746128-G-T 9908519-G-T ***
9746133-T-C 9908524-T-C ***
9746310-C-G 9908701-C-G ***
9746377-A-T 9908768-A-T ***
13805500-C-T 11684794-C-T ***
13826241-C-G 11705535-C-G ***
13863768-A-G 11743062-A-G ***
22223011-T-C 20061125-T-C DYZ19 ***
22223276-T-G 20061390-T-G DYZ19 ***
22233479-G-C 20071593-G-C DYZ19 ***
22236968-C-G 20075082-C-G DYZ19 ***
24034542-G-C 21888395-G-C ***
27341589-T-G 25195442-T-G P1_g3 ***
6153512-T-A 6285471-T-A Y12182 IR3_Dst ***
6168958-C-T 6300917-C-T IR3_Dst ***
6333129-T-C 6465088-T-C BY59635 IR3_Dst ***
6361909-T-A 6493868-T-A ***
7307479-T-TTA 7439438-T-TTA 8×TA***
7457988-C-T 7589947-C-T CTS1515 IR1_L ***
7561484-G-A 7693443-G-A Y22379 ***
7561488-A-G 7693447-A-G Y22382 ***
8980595-C-T 9142986-C-T ***
9732357-C-A 9894748-C-A Y13732 IR3_Prx ***
9734520-G-T 9896911-G-T IR3_Prx ***
9738675-C-A 9901066-C-A IR3_Prx ***
9739443-A-G 9901834-A-G A17497 IR3_Prx ***
9739526-C-A 9901917-C-A IR3_Prx ***
9745835-A-G 9908226-A-G ***
9746293-G-A 9908684-G-A ***
9746383-G-A 9908774-G-A ***
9749638-A-G 9912029-A-G ***
9749647-G-C 9912038-G-C ***
10024419-C-G 10186810-C-G ***
13139299-TCATTCAGTTG-C 10628785-TCATTCAGTTG-C ***
13143887-G-C 10633373-G-C ***
13195397-A-T 11039721-A-T ***
13448861-T-C 11293185-T-C ***
13483229-C-G 11327553-C-G ***
13653032-T-G 11497356-T-G ***
13659426-T-G 11503750-T-G ***
13660538-A-C 11504862-A-C ***
13660599-C-T 11504923-C-T BY87413 ***
13660613-C-A 11504937-C-A ***
13663897-A-G 11508221-A-G ***
13699245-T-A 11543569-T-A ***
13699247-T-TA 11543571-T-TA ***
13704239-G-A 11548563-G-A ***
13706956-G-C 11551280-G-C BY89294 ***
13706957-G-A 11551281-G-A ***
13706960-A-T 11551284-A-T ***
13808675-G-A 11687969-G-A ***
13810177-TGGATA-T,TGGAAT 11689471-TGGATA-T,TGGAAT ***
13810314-G-C 11689608-G-C ***
13810322-C-T 11689616-C-T ***
13811722-G-C 11691016-G-C ***
13811823-GAGTCA-G 11691117-GAGTCA-G ***
13818175-A-C 11697469-A-C ***
13820821-A-C 11700115-A-C ***
13821153-G-A 11700447-G-A ***
13826690-A-G 11705984-A-G ***
13828552-C-A 11707846-C-A ***
13831603-A-T 11710897-A-T ***
13832932-G-A 11712226-G-A FT328600 ***
13833555-A-T 11712849-A-T ***
13835349-C-T 11714643-C-T ***
13839898-A-C 11719192-A-C ***
13839900-G-C 11719194-G-C FTB14656 ***
13839903-A-G 11719197-A-G ***
13841277-C-T 11720571-C-T ***
13842233-G-T 11721527-G-T ***
13842262-G-A 11721556-G-A ***
13842566-C-T 11721860-C-T ***
13845476-G-A 11724770-G-A ***
13847080-G-A 11726374-G-A ***
13847090-G-A 11726384-G-A ***
13857480-C-T 11736774-C-T ***
13857623-A-T 11736917-A-T ***
13859963-T-C 11739257-T-C ***
13861638-G-C 11740932-G-C ***
13867639-T-A 11746933-T-A ***
17781483-T-A 15669603-T-A 16×TTTTA***
19829837-A-G 17717957-A-G P5_Prx ***
20207962-T-C 18046076-T-C FGC61356 P5_Dst ***
20943693-G-A 18781807-G-A P4_Dst ***
22222999-G-A 20061113-G-A DYZ19 ***
22223302-A-T 20061416-A-T DYZ19 ***
22223834-A-G 20061948-A-G DYZ19 ***
22227148-A-T 20065262-A-T DYZ19 ***
22227149-C-G 20065263-C-G DYZ19 ***
22230192-C-T 20068306-C-T DYZ19 ***
22232334-G-A 20070448-G-A DYZ19 ***
22232506-C-G 20070620-C-G DYZ19 ***
22240778-A-T 20078892-A-T DYZ19 ***
22241689-T-C 20079803-T-C DYZ19 ***
22241711-A-C 20079825-A-C DYZ19 ***
22244587-T-C 20082701-T-C DYZ19 ***
22248827-C-G 20086941-C-G DYZ19 ***
22300430-A-G 20138544-A-G BY216869 DYZ19 ***
22311276-A-G 20149390-A-G DYZ19 ***
22360822-G-T 20198936-G-T DYZ19 ***
22420510-C-T 20258624-C-T DYZ19 ***
22450385-T-G 20288499-T-G DYZ19 ***
22453361-T-G 20291475-T-G DYZ19 ***
23697408-C-T 21535522-C-T ZS1895 ***
24034788-T-A 21888641-T-A ***
24215019-T-C 22068872-T-C P3_b1 ***
24555364-G-A 22409217-G-A P3_t2 ***
24600442-CTCTT-C,CT 22454295-CTCTT-C,CT P3_t2 18×TCTT***
24768408-G-C 22622261-G-C P3_b2 ***
24850712-T-A 22704565-T-A IR1_R ***
25048849-G-A 22902702-G-A g1 ***
25052862-G-A 22906715-G-A g1 ***
25240985-AGAAGGAAGGAAG-A 23094838-AGAAGGAAGGAAG-A P2_r1 17×GAAG***
25403873-G-A 23257726-G-A P2_r2 ***
25678507-C-T 23532360-C-T P1_b3 ***
26188805-T-C 24042658-T-C P1_Y1 ***
26248203-T-G 24102056-T-G P1_Y1 ***
26990667-G-A 24844520-G-A P1_r4 ***
27009898-C-T 24863751-C-T P1_r4 ***
27131497-A-G 24985350-A-G P1_g3 ***
27155015-AGT-A 25008868-AGT-A P1_g3 ***
27167698-A-G 25021551-A-G P1_g3 ***
27168017-G-C 25021870-G-C P1_g3 ***
27231785-T-A 25085638-T-A P1_g3 ***
27237174-G-T 25091027-G-T P1_g3 ***
27246926-T-G 25100779-T-G P1_g3 ***
27248890-T-C 25102743-T-C P1_g3 ***
27274978-C-A 25128831-C-A P1_g3 ***
27275786-C-T 25129639-C-T P1_g3 ***
27297964-T-C 25151817-T-C P1_g3 ***
27305664-A-G 25159517-A-G P1_g3 ***
27331644-T-C 25185497-T-C P1_g3 ***
27377672-T-C 25231525-T-C P1_g3 ***
27409365-G-A 25263218-G-A P1_g3 ***
27773620-A-G 25627473-A-G P1_Y2 ***
27774409-G-A 25628262-G-A P1_Y2 ***
27774431-C-A 25628284-C-A P1_Y2 ***
27774528-C-G 25628381-C-G P1_Y2 ***
28009090-C-T 25862943-C-T P1_Y2 ***
28009095-A-G 25862948-A-G P1_Y2 ***
28009097-T-A 25862950-T-A P1_Y2 ***
28009103-G-A 25862956-G-A P1_Y2 ***
28009110-T-G 25862963-T-G P1_Y2 ***
28009111-C-A 25862964-C-A P1_Y2 ***
28009126-G-T 25862979-G-T P1_Y2 ***
28324750-T-G 26178603-T-G P1_b4 ***
28359912-T-C 26213765-T-C P1_gr2 ***
28785602-G-T 26639455-G-T ***
28785931-A-AAGTGG 26639784-A-AAGTGG ***
28799158-G-T 26653011-G-T ***
28799160-A-T 26653013-A-T ***
28799169-G-T 26653022-G-T ***
58975345-C-A 56829198-C-A ***
58975572-C-G 56829425-C-G ***
58976251-A-T 56830104-A-T ***
13194842-A-C,T 11039166-A-C,T ***
13681065-C-A,G 11525389-C-A,G ***
13832600-C-A,G 11711894-C-A,G ***

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.