Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > Z39589 > CTS1751

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 STRBigY2
660277
28816753-G-C 26670606-G-C A*
6303101-T-C 6435060-T-C IR3_Dst A*
6380559-C-T 6512518-C-T A*
19838700-A-G 17726820-A-G P5_Prx A*
19856563-C-T 17744683-C-T P5_Prx A*
20663050-C-A 18501164-C-A P4_Prx A*
22309760-C-G 20147874-C-G DYZ19 A*
25857156-G-C 23711009-G-C P1_Y1 A*
25947177-G-A 23801030-G-A P1_Y1 A*
28817461-A-T 26671314-A-T A*
2807024-T-A 2938983-T-A BY42602 YY20×TA+
6791410-GA-G 6923369-GA-G +
6839156-A-T 6971115-A-T BY61607 YY+
6848310-C-A 6980269-C-A BY61674 YY+
6949739-C-T 7081698-C-T BY62467 YY+
7151459-A-C 7283418-A-C BY63550 YY+
7542439-C-T 7674398-C-T BY65770 YY+
7620610-T-A 7752569-T-A BY66341 YY+
7750337-A-G 7882296-A-G BY67356 YY+
8173083-GAAGAAAAGAA-G 8305042-GAAGAAAAGAA-G 5×AAGAA+
8519864-C-T 8651823-C-T BY73630 YY+
8865303-G-A 8997262-G-A BY42793 Y+
8884545-C-G 9016504-C-G FT179561 Y+
13700019-G-A 11544343-G-A BY54373 +
13832642-G-A 11711936-G-A BY90911 +
13921848-T-C 11801142-T-C BZ2124 YY+
14085684-T-C 11964978-T-C BY92905 YY+
14097030-A-G 11976324-A-G BY92997 YY+
15128443-G-C 13016530-G-C BY99823 YY+
15896100-A-T 13784220-A-T BY104767 YY+
16343807-A-C 14231927-A-C BY107097 YY+
16649144-G-C 14537264-G-C BY109225 YY+
17310543-G-A 15198663-G-A BY113714 YY+
17525600-C-A 15413720-C-A BY115444 YY+
17806661-T-C 15694781-T-C BY117524 YY+
17921190-C-T 15809310-C-T BY118451 YY+
18075441-C-T 15963561-C-T BY119738 YY+
18252100-A-T 16140220-A-T BY121205 Y+
18596985-GCA-G 16485105-GCA-G +
18889271-T-C 16777391-T-C BY124538 YY+
19214539-C-A 17102659-C-A BY127315 YY+
19239266-G-A 17127386-G-A BY211811 YY+
19373022-G-T 17261142-G-T BY128562 YY+
21298218-G-A 19136332-G-A BY131821 YY+
21556373-C-T 19394487-C-T BY38457 YY+
22263535-G-C 20101649-G-C BY214759 DYZ19 +
22459324-C-T 20297438-C-T BY47341 DYZ19 +
22473391-G-A 20311505-G-A BY222908 DYZ19 +
22477602-G-A 20315716-G-A BY157059 DYZ19 +
22485468-T-C 20323582-T-C BY224697 DYZ19 +
22937819-G-A 20775933-G-A BY141884 YY+
23125014-T-C 20963128-T-C BY143162 YY+
23137726-T-C 20975840-T-C BY143273 YY+
23591307-T-G 21429421-T-G BY146555 YY+
22558699-A-ATTTC 20396813-A-ATTTC 6×TTTC*
22289013-G-A 20127127-G-A DYZ19 *
22289027-T-A 20127141-T-A DYZ19 *
22289050-C-T 20127164-C-T DYZ19 *
3081286-T-C 3213245-T-C **
16860770-AAAAG-A 14748890-AAAAG-A **
8856710-A-C 8988669-A-C FGC33380 **
24278183-CAAGAAAGAAAGAAAGAAAGA-C 22132036-CAAGAAAGAAAGAAAGAAAGA-C P3_b1 22×AAGA**
26376499-CAA-C 24230352-CAA-C P1_Y1 18×A**
28602524-TGA-T 26456377-TGA-T **
22204505-G-T 20042619-G-T **
10868933-C-A **
11013570-C-G **
20700682-CA-C 18538796-CA-C P4_Prx **
20613610-T-TG 18451724-T-TG P4_Prx **
10927200-A-T **
11004936-C-A **
26018438-T-A 23872291-T-A P1_Y1 **
10837413-G-T **
10924410-T-G **
11013599-A-T **
17142154-C-A 15030274-C-A **
21796527-C-A 19634641-C-A **
11024910-AT-A **
6492541-C-A 6624500-C-A **
4920124-C-A 5052083-C-A **
11643720-AATTG-A **
10754961-C-A **
14468822-G-T 12348091-G-T 14×A**
10772450-C-CGTTTCCCCTCCTTTA **
20557651-G-T 18395765-G-T P5_Dst **
13620819-C-A 11465143-C-A **
17169958-G-T 15058078-G-T **
22485792-C-A 20323906-C-A DYZ19 **
10872268-T-C **
10759954-C-A **
18391889-T-G 16280009-T-G P6_Gap **
28741108-A-C 26594961-A-C **
20051006-G-T 17939126-G-T P5_Prx **
10780845-T-G **
56849755-C-T **
21162930-C-A 19001044-C-A **
14088871-C-A 11968165-C-A **
10655132-T-A **
19586696-T-TG 17474816-T-TG P5_Prx **
9107937-G-T **
10761469-T-A **
10921476-A-T **
14491369-C-A 12379566-C-A **
10987991-A-C **
9107930-T-G **
22171188-C-A 20009302-C-A **
10872306-A-C **
10899868-T-G **
9931597-G-T 10093988-G-T **
24875482-C-A 22729335-C-A g1 **
13809174-C-A 11688468-C-A **
10759983-T-C **
17513291-C-A 15401411-C-A **
22690854-G-T 20528968-G-T **
10746829-T-A **
10758438-C-A **
23848632-G-T 21686746-G-T **
13493188-G-A 11337512-G-A **
9107939-C-T FT167994 **
9107940-A-G **
10861457-C-A **
4920148-C-A 5052107-C-A **
10754922-C-G **
10754938-ATT-A **
10754942-CAT-C **
5957237-C-A 6089196-C-A **
10921463-C-T **
10992709-T-A **
10962937-C-T **
9108560-T-G **
2923103-C-A 3055062-C-A **
3051998-A-T 3183957-A-T **
3332106-T-G 3464065-T-G FT27528 **
3604144-C-A 3736103-C-A **
3740381-G-T 3872340-G-T **
3769302-G-T 3901261-G-T **
4147871-A-G 4279830-A-G **
4270330-T-G 4402289-T-G FT110050 **
4317839-A-G 4449798-A-G **
4465664-G-T 4597623-G-T **
4490520-T-C 4622479-T-C **
4731182-C-A 4863141-C-A **
4867926-C-A 4999885-C-A **
4918166-A-T 5050125-A-T **
5172233-T-A 5304192-T-A **
5358884-C-A 5490843-C-A **
5685672-A-G 5817631-A-G **
5814488-G-GAAA 5946447-G-GAAA 18×A**
6092282-T-G 6224241-T-G **
6273857-C-CAA 6405816-C-CAA IR3_Dst **
6325438-A-T 6457397-A-T IR3_Dst **
6403643-T-A 6535602-T-A **
6468270-C-A 6600229-C-A **
6685603-A-C 6817562-A-C **
7028733-C-A 7160692-C-A **
7029951-G-A 7161910-G-A **
7039827-A-T 7171786-A-T **
7116970-T-G 7248929-T-G **
7142957-A-C 7274916-A-C **
7156662-G-A 7288621-G-A **
7311578-C-A 7443537-C-A **
7329305-C-A 7461264-C-A **
7360567-T-TAAA 7492526-T-TAAA 13×A**
7503815-C-A 7635774-C-A IR1_L **
7536369-A-C 7668328-A-C **
7626203-T-G 7758162-T-G **
9602647-T-G 9765038-T-G IR3_Prx **
9885040-T-A 10047431-T-A **
9991270-A-G 10153661-A-G **
10670890-T-A **
10671962-C-A **
10682595-T-C **
10684914-G-A **
10684916-C-T **
10684929-T-C **
10686975-T-C **
10687137-CCATT-C **
10750720-G-T **
10757360-C-A **
10757361-A-T **
10757369-CCACTG-C **
10763495-C-A **
10779168-CTCCAT-C **
10808507-C-A **
10826223-C-G **
10839851-C-A **
10841070-C-A **
10841099-T-A **
10841103-A-G **
10870404-T-C **
10882800-C-A **
10886138-C-A **
10889775-C-CTTACGTGTTGTTTCA **
10889779-C-CCATACTTTTA **
10892194-C-T **
10912544-G-T **
10921481-C-A **
10921511-C-G **
10927219-A-T **
10927391-C-CGATTA **
10940307-A-T **
10940330-C-A **
10958839-T-A **
10958850-G-GGACTC **
10962905-C-G **
10964617-T-G **
10965555-A-G **
10965560-A-G **
10974009-T-TTCCAG **
10987209-T-A **
10987980-A-T **
10988006-C-G **
10988023-C-A **
10993055-A-T **
10998372-A-ACTCCC **
10998393-T-A **
10998408-T-C **
10998417-A-T **
11003458-T-G **
11010113-C-A **
11013526-C-T **
11013577-A-T **
11013579-A-T **
13229620-T-G 11073944-T-G **
13287683-C-G 11132007-C-G **
13409296-C-A 11253620-C-A **
13460432-G-A 11304756-G-A **
13460439-C-G 11304763-C-G **
13468590-G-T 11312914-G-T **
13493182-C-A 11337506-C-A **
13498334-C-A 11342658-C-A **
13710337-G-T 11554661-G-T **
13721471-C-A 11565795-C-A **
13734484-A-C 11578808-A-C **
13856301-T-TGGAAA 11735595-T-TGGAAA **
13961816-T-A 11841110-T-A **
14026945-ATATC-A 11906239-ATATC-A 10×TATC**
14046691-C-A 11925985-C-A **
14246749-C-A 12126043-C-A **
14660368-T-G 12548433-T-G **
14688781-C-T 12576847-C-T **
14743132-G-A 12631200-G-A **
15012791-A-C 12900879-A-C **
15323421-T-A 13211539-T-A **
15380739-C-A 13268859-C-A **
15745560-A-T 13633680-A-T **
15746250-C-A 13634370-C-A **
15764084-T-G 13652204-T-G **
15909407-C-T 13797527-C-T **
16027688-C-A 13915808-C-A **
16054808-T-C 13942928-T-C **
16100582-A-C 13988702-A-C P8_Prx **
16702835-G-A 14590955-G-A **
16709896-T-G 14598016-T-G **
17048055-A-G 14936175-A-G **
17087804-T-G 14975924-T-G **
17122294-G-A 15010414-G-A **
17250966-A-C 15139086-A-C **
17323725-G-A 15211845-G-A **
17871009-C-A 15759129-C-A **
17916576-A-C 15804696-A-C **
17997520-G-A 15885640-G-A P7_Gap **
18058786-C-A 15946906-C-A **
18086918-C-A 15975038-C-A **
18401228-A-C 16289348-A-C P6_Gap **
18853246-A-C 16741366-A-C **
19375577-A-C 17263697-A-C **
19558909-G-T 17447029-G-T **
19926997-C-A 17815117-C-A P5_Prx **
20311689-A-C 18149803-A-C P5_Dst **
20311696-A-C 18149810-A-C P5_Dst **
20661842-A-C 18499956-A-C P4_Prx 9×C**
20778691-CA-C 18616805-CA-C P4_Prx **
21153950-A-G 18992064-A-G **
21409459-CCAAAA-C 19247573-CCAAAA-C **
21624727-T-A 19462841-T-A **
21677514-G-A 19515628-G-A **
21942211-G-A 19780325-G-A **
22060002-A-C 19898116-A-C **
22220431-T-G 20058545-T-G DYZ19 **
22301218-C-T 20139332-C-T DYZ19 **
22420541-A-C 20258655-A-C DYZ19 **
22489755-C-A 20327869-C-A DYZ19 **
22504950-T-A 20343064-T-A DYZ19 **
22935298-A-C 20773412-A-C **
23185849-G-T 21023963-G-T **
23787116-T-C 21625230-T-C **
24302805-A-C 22156658-A-C P3_t1 **
25946798-A-C 23800651-A-C P1_Y1 **
26242572-C-G 24096425-C-G P1_Y1 **
27030481-T-C 24884334-T-C P1_r4 **
27633660-G-T 25487513-G-T P1_Y2 **
27636498-A-C 25490351-A-C P1_Y2 **
27997461-A-C 25851314-A-C P1_Y2 **
28551340-C-A 26405193-C-A **
28602523-T-G 26456376-T-G **
28635567-T-G 26489420-T-G **
28664968-C-A 26518821-C-A **
28731354-G-T 26585207-G-T **
28734877-T-G 26588730-T-G **
28798462-A-G 26652315-A-G **
28814137-A-G 26667990-A-G **
56728155-G-T **
56728177-G-T **
56845069-A-G **
56845111-A-T **
56848410-T-G **
35454-C-T **
13448866-G-A 11293190-G-A ***
28792188-C-T 26646041-C-T ***
14472854-C-A 12352123-C-A ***
10987214-T-C ***
15270877-TAA-T,TA 13158966-TAA-T,TA 13×A***
11022876-C-G ***
11643691-A-AT ***
13798687-C-A 11677981-C-A ***
5358655-C-A 5490614-C-A ***
9606392-T-C 9768783-T-C IR3_Prx ***
11028216-ACTGAAC-A,AATGAAC ***
13482607-C-A 11326931-C-A ***
16702058-C-T 14590178-C-T ***
16932278-T-A 14820398-T-A ***
17004618-C-CAAA 14892738-C-CAAA 14×A***
17215994-G-T 15104114-G-T ***
17876459-GT-G,GTT 15764579-GT-G,GTT 10×T***
20645843-C-G 18483957-C-G P4_Prx 29×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.