Parks

BigY2: 61402
MDKA Birth: Northern Ireland

Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > Z39589 > DF41/S524 > FGC8622 > BY56510

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
61402
18182026-A-T 16070146-A-T BY120702 YY+
22865249-A-T 20703363-A-T L1402A819 FGC20961 **
18978747-GCA-G 16866867-GCA-G **
5204640-CCAAA-C 5336599-CCAAA-C **
13465400-G-T 11309724-G-T **
19246685-C-A 17134805-C-A **
18753399-G-T 16641519-G-T **
10967543-C-CGGATG **
10760068-C-T **
18841112-T-TAA 16729232-T-TAA 16×A**
10685801-C-G **
17864099-C-A 15752219-C-A **
8052307-C-A 8184266-C-A **
16107443-T-TG 13995563-T-TG P8_Prx **
56859901-G-T **
26100562-T-A 23954415-T-A P1_Y1 **
10950797-A-C **
9498971-C-A 9661362-C-A YFS287326 **
18307719-A-AC 16195839-A-AC P6_Prx **
24601760-T-TG 22455613-T-TG P3_t2 **
13447139-T-A 11291463-T-A **
27616523-T-G 25470376-T-G P1_Y2 **
19754901-C-T 17643021-C-T P5_Prx **
13462312-C-A 11306636-C-A **
18946946-C-A 16835066-C-A **
21392359-C-A 19230473-C-A **
10759816-A-C **
16369127-A-G 14257247-A-G FGC21486 **
9015207-C-A 9177598-C-A **
16708834-G-T 14596954-G-T **
3366661-C-A 3498620-C-A **
18455873-G-GATAC 16343993-G-GATAC P6_Dst **
10655927-T-G **
21323492-C-A 19161606-C-A **
22909754-C-A 20747868-C-A **
15655699-C-A 13543819-C-A **
18779469-C-A 16667589-C-A **
7323032-C-A 7454991-C-A **
22048544-A-C 19886658-A-C **
13998221-A-C 11877515-A-C **
24416858-T-G 22270711-T-G **
22300823-T-C 20138937-T-C DYZ19 **
18188084-G-A 16076204-G-A **
13480335-G-C 11324659-G-C **
56847785-A-C **
23438879-C-A 21276993-C-A 21×T**
15556672-C-A 13444792-C-A **
14038341-C-A 11917635-C-A **
13705528-A-C 11549852-A-C **
9961275-C-A 10123666-C-A **
17981960-C-A 15870080-C-A **
11665185-T-G **
2775088-T-C 2907047-T-C **
3048829-G-T 3180788-G-T **
3111324-T-A 3243283-T-A **
3260988-C-A 3392947-C-A **
3340608-T-G 3472567-T-G **
3435945-C-A 3567904-C-A **
3611778-C-A 3743737-C-A **
3620966-C-G 3752925-C-G **
3651294-G-T 3783253-G-T **
4031446-G-T 4163405-G-T **
4157691-C-A 4289650-C-A **
4293611-C-A 4425570-C-A **
4356855-C-A 4488814-C-A **
4672566-C-A 4804525-C-A **
4786808-G-T 4918767-G-T **
4872738-TTC-T 5004697-TTC-T **
5124462-G-T 5256421-G-T **
5182160-G-T 5314119-G-T **
5510851-C-A 5642810-C-A **
5510880-G-C 5642839-G-C **
5818524-G-T 5950483-G-T **
5887707-C-A 6019666-C-A **
5911461-C-A 6043420-C-A **
6030792-A-C 6162751-A-C **
6030843-T-G 6162802-T-G **
6030849-T-G 6162808-T-G **
6268784-G-A 6400743-G-A IR3_Dst **
6767624-A-C 6899583-A-C **
6775243-A-G 6907202-A-G **
6825317-T-G 6957276-T-G **
6828938-G-T 6960897-G-T **
7004008-C-A 7135967-C-A **
7004015-C-A 7135974-C-A **
7157059-A-C 7289018-A-C **
7235815-AC-A 7367774-AC-A **
7362326-C-A 7494285-C-A **
7363128-G-T 7495087-G-T **
7379640-TA-T 7511599-TA-T **
7460224-G-C 7592183-G-C BY51855 IR1_L **
7499776-C-A 7631735-C-A IR1_L **
7635873-C-A 7767832-C-A **
7705158-C-A 7837117-C-A **
7894554-C-A 8026513-C-A **
7989230-C-T 8121189-C-T **
7996918-C-A 8128877-C-A **
8158815-T-G 8290774-T-G **
8158821-T-C 8290780-T-C **
8692014-A-G 8823973-A-G **
8736690-C-A 8868649-C-A **
8785822-C-A 8917781-C-A **
9144118-T-G 9306509-T-G **
9361121-C-A 9523512-C-A **
9442082-C-A 9604473-C-A **
9556997-C-A 9719388-C-A IR3_Prx **
9557062-A-T 9719453-A-T IR3_Prx **
9557064-T-TCG 9719455-T-TCG IR3_Prx **
9557067-G-GTTTTTT 9719458-G-GTTTTTT IR3_Prx **
9557071-G-T 9719462-G-T IR3_Prx **
9557079-A-G 9719470-A-G IR3_Prx **
9983275-AT-A 10145666-AT-A **
10655153-C-A **
10657368-T-C **
10682499-T-TGGAAA **
10682544-T-TGGAAA **
10685743-A-G FT91561 **
10685768-A-G **
10685820-T-C **
10686495-TCTTTC-T **
10746907-C-CTGGTGG **
10746909-AC-A **
10760057-C-T **
10760064-G-A **
10763960-T-C **
10817770-C-A **
10827295-C-T **
10835624-C-A **
10862321-A-G **
10962955-T-A **
10974296-C-A **
10984256-C-A **
11020116-C-A **
11026429-C-A **
11027416-C-A **
11037363-A-T **
13225905-C-A 11070229-C-A **
13447015-C-G 11291339-C-G **
13447061-T-A 11291385-T-A **
13456630-T-A 11300954-T-A **
13456632-T-G 11300956-T-G 4×ATTCC**
13484058-T-A 11328382-T-A **
13484062-C-G 11328386-C-G **
13484079-T-A 11328403-T-A **
13484088-C-A 11328412-C-A **
13484098-A-C 11328422-A-C **
13493191-C-T 11337515-C-T **
13592210-C-A 11436534-C-A **
13606561-TAAATGATTTATATA-T 11450885-TAAATGATTTATATA-T **
13653427-A-G 11497751-A-G **
11650160-C-A **
11652987-A-C **
11659598-A-G **
11671588-A-G **
13838435-T-TGTTAC 11717729-T-TGTTAC **
13842658-G-A 11721952-G-A **
13846748-TG-T 11726042-TG-T **
13859985-GA-G 11739279-GA-G **
13878625-G-C 11757919-G-C **
13900960-C-A 11780254-C-A **
13920997-C-A 11800291-C-A **
14227588-C-G 12106882-C-G **
14234631-A-C 12113925-A-C **
14281220-C-A 12160514-C-A **
14315450-T-A 12194744-T-A **
14345081-T-A 12224376-T-A **
14364195-A-C 12243490-A-C **
14390420-T-G 12269716-T-G **
14398195-C-A 12277491-C-A **
14522220-G-A 12410421-G-A **
14527732-A-C 12415933-A-C **
14633232-G-T 12521301-G-T **
15623379-C-A 13511499-C-A **
15878448-C-A 13766568-C-A **
15971752-GTT-G 13859872-GTT-G 8×T**
16036363-C-A 13924483-C-A **
16188169-C-A 14076289-C-A **
16312456-T-G 14200576-T-G **
16354250-C-A 14242370-C-A **
16750152-G-A 14638272-G-A **
16790969-C-A 14679089-C-A **
16917827-A-C 14805947-A-C **
17070995-C-A 14959115-C-A **
17110333-C-A 14998453-C-A **
17264843-CTTATTATTATTATTATTATTATTATTATTATTATTATTA-C 15152963-CTTATTATTATTATTATTATTATTATTATTATTATTATTA-C 15×TTA**
17278055-C-A 15166175-C-A **
17339064-C-A 15227184-C-A **
17413406-C-A 15301526-C-A **
17491881-A-G 15380001-A-G **
17491906-C-A 15380026-C-A **
17575222-CA-C 15463342-CA-C **
17637749-T-C 15525869-T-C **
17653871-C-A 15541991-C-A **
17865325-C-T 15753445-C-T **
17978457-C-A 15866577-C-A **
18086326-C-A 15974446-C-A **
18159319-TCACACCA-T 16047439-TCACACCA-T **
18549369-C-T 16437489-C-T **
18782390-C-A 16670510-C-A **
18872227-TCTTCCTTC-T 16760347-TCTTCCTTC-T 4×CTTC**
18983921-C-A 16872041-C-A **
19067976-T-G 16956096-T-G **
19085594-G-T 16973714-G-T **
19187439-GGATACAC-G 17075559-GGATACAC-G **
19246745-C-T 17134865-C-T **
19303671-G-T 17191791-G-T **
19304765-A-C 17192885-A-C **
19492794-T-C 17380914-T-C **
19523566-C-G 17411686-C-G **
19528524-CAAAAAA-C 17416644-CAAAAAA-C 18×A**
19721390-A-C 17609510-A-C P5_Prx **
20045463-G-T 17933583-G-T P5_Prx **
20497223-CG-C 18335337-CG-C P5_Dst **
20497560-A-C 18335674-A-C P5_Dst **
20915154-G-T 18753268-G-T P4_Dst **
21167405-G-A 19005519-G-A Y30117 **
21386239-TTATA-T 19224353-TTATA-T **
21390622-C-A 19228736-C-A **
21587784-C-A 19425898-C-A **
21651179-A-T 19489293-A-T **
21700611-AAG-A 19538725-AAG-A **
22060488-C-A 19898602-C-A **
22080533-A-G 19918647-A-G **
22122127-A-C 19960241-A-C **
22176778-C-A 20014892-C-A **
22200793-C-T 20038907-C-T FT339677 **
22229293-A-G 20067407-A-G DYZ19 **
22269566-T-C 20107680-T-C DYZ19 **
22485359-T-A 20323473-T-A DYZ19 **
22584299-C-A 20422413-C-A **
22612015-G-T 20450129-G-T **
23176863-A-C 21014977-A-C **
23276482-T-C 21114596-T-C **
23364125-T-G 21202239-T-G **
23373485-C-A 21211599-C-A **
23435706-GGT-G 21273820-GGT-G **
23468641-A-C 21306755-A-C **
23521522-G-T 21359636-G-T **
23625554-C-T 21463668-C-T **
23831439-T-G 21669553-T-G **
24206147-A-G 22060000-A-G P3_b1 **
24296171-CTTTTTTTT-C 22150024-CTTTTTTTT-C P3_t1 31×T**
24405364-T-C 22259217-T-C **
24408132-G-A 22261985-G-A **
24600378-TCCTCCCTCCCTC-T 22454231-TCCTCCCTCCCTC-T P3_t2 9×CCTC**
25534748-T-G 23388601-T-G P1_gr1 **
26121841-A-C 23975694-A-C P1_Y1 **
26121842-CATATTTAAT-C 23975695-CATATTTAAT-C P1_Y1 **
26121862-A-T 23975715-A-T P1_Y1 **
26121863-G-T 23975716-G-T P1_Y1 **
26121864-G-T 23975717-G-T P1_Y1 **
26228726-G-T 24082579-G-T P1_Y1 **
26514910-C-G 24368763-C-G P1_Y1 **
26514937-A-T 24368790-A-T P1_Y1 **
27733732-AAAAAAAAGAAAG-A 25587585-AAAAAAAAGAAAG-A P1_Y2 **
27964063-A-G 25817916-A-G P1_Y2 **
27964066-GCTTAATTAA-G 25817919-GCTTAATTAA-G P1_Y2 **
28027964-C-CTAATT 25881817-C-CTAATT P1_Y2 4×TAATT**
28096001-C-A 25949854-C-A P1_Y2 **
28441816-A-G 26295669-A-G P1_gr2 **
28460915-C-A 26314768-C-A FT232615 **
28462114-A-C 26315967-A-C **
28601625-A-G 26455478-A-G **
28608286-C-A 26462139-C-A **
28627142-A-G 26480995-A-G **
28700764-TACA-T 26554617-TACA-T 13×AC**
56837063-A-C **
56847791-C-A **
56847816-G-T **
56871408-C-A **
11595-T-A **
13137379-T-C 10626865-T-C ***
13137383-A-C 10626869-A-C ***
15196730-CT-C,CTT 13084816-CT-C,CTT 16×T***
13478256-CGAG-C,TGTG 11322580-CGAG-C,TGTG ***
27647719-C-A 25501572-C-A P1_Y2 ***
16320152-G-T 14208272-G-T ***
24278183-CAAGAAAGA-C,CAAGA 22132036-CAAGAAAGA-C,CAAGA P3_b1 22×AAGA***
3467420-C-A 3599379-C-A ***
56832534-G-A,T ***
17883329-G-T 15771449-G-T ***
3074649-C-A 3206608-C-A ***
4301941-AC-A 4433900-AC-A ***
7241629-G-T 7373588-G-T ***
7537735-C-A 7669694-C-A ***
8171734-A-G 8303693-A-G ***
8383561-A-G 8515520-A-G ***
9954447-C-A 10116838-C-A ***
10626835-C-A ***
10677296-C-T ***
10900816-C-G ***
10962902-T-C,G ***
13194961-T-A 11039285-T-A ***
13194983-A-G 11039307-A-G ***
13194992-CATTG-C 11039316-CATTG-C ***
13452385-TCCATTCCATTCAAATACACTCCTTG-T,TCCATTCCAATACACTCCTTG 11296709-TCCATTCCATTCAAATACACTCCTTG-T,TCCATTCCAATACACTCCTTG ***
13456595-T-G 11300919-T-G ***
13456603-A-T 11300927-A-T ***
13456651-CCACTTG-C 11300975-CCACTTG-C ***
13465422-G-A 11309746-G-A ***
13477522-A-C 11321846-A-C ***
13617192-C-A 11461516-C-A ***
13838452-G-GAGTCA 11717746-G-GAGTCA ***
13842776-T-C 11722070-T-C ***
14029013-C-A 11908307-C-A ***
14125854-C-A 12005148-C-A PR1344 ***
14461496-C-A 12340769-C-A ***
14520610-C-A 12408811-C-A ***
14538700-G-T 12426901-G-T ***
14730395-TC-T 12618463-TC-T ***
15178058-G-A 13066144-G-A ***
15945484-C-A 13833604-C-A ***
15951953-C-A 13840073-C-A ***
15957059-G-T 13845179-G-T ***
15957698-T-C 13845818-T-C ***
16077585-T-TG 13965705-T-TG ***
17272663-T-C 15160783-T-C ***
18746920-C-A 16635040-C-A ***
21457443-G-A 19295557-G-A ***
22287167-C-A 20125281-C-A DYZ19 ***
22802868-ATTTTTTTTTT-A,ATT 20640982-ATTTTTTTTTT-A,ATT 32×T***
23787023-C-A 21625137-C-A ***
27861605-C-A 25715458-C-A P1_Y2 ***

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.