Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > Z195/S355 > Z272 > S450 > ZZ40 > FGC23342 > FGC23344

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
B6432
FGC-BigY
8Q7KV
26658105-T-C 24511958-T-C P1_g2 +
25972132-G-A 23825985-G-A P1_Y1 +
26262523-T-C 24116376-T-C P1_Y1 **
26024841-G-C 23878694-G-C GG046 P1_Y1 **
21713438-TAAAA-T 19551552-TAAAA-T 16×A**
7258755-C-CAAAAAAAAA 7390714-C-CAAAAAAAAA 25×A**
23729950-T-C 21568064-T-C **
25678192-G-A 23532045-G-A P1_b3 ***
25678197-C-A 23532050-C-A P1_b3 ***
25719214-C-T 23573067-C-T P1_b3 ***
25985761-G-T 23839614-G-T P1_Y1 ***
26122000-A-T 23975853-A-T P1_Y1 18×T***
26391496-G-T 24245349-G-T P1_Y1 ***
25678151-G-A 23532004-G-A P1_b3 ***
26260551-C-A 24114404-C-A P1_Y1 ***
26344282-G-A 24198135-G-A P1_Y1 ***
26371734-A-T 24225587-A-T P1_Y1 ***
26371738-T-C 24225591-T-C P1_Y1 ***
26371776-G-A 24225629-G-A P1_Y1 ***
25678150-T-A 23532003-T-A P1_b3 ***
26834579-A-G 24688432-A-G P1_g2 ***
26391504-C-A 24245357-C-A P1_Y1 ***
26996136-G-T 24849989-G-T P1_r4 ***
27158049-A-G 25011902-A-G P1_g3 ***
27162040-T-C 25015893-T-C P1_g3 ***
27186344-A-T 25040197-A-T P1_g3 ***
27636965-C-G 25490818-C-G P1_Y2 ***
27990255-C-T 25844108-C-T P1_Y2 ***
28033231-A-T 25887084-A-T P1_Y2 ***
28046098-C-A 25899951-C-A P1_Y2 ***
58843592-G-A 56747279-C-T ***
58846173-G-T 56744698-C-A ***
58870680-T-G 56720191-A-C ***
58877071-A-T 56713800-T-A ***
58879338-A-C 56711533-T-G ***
25534104-C-A 23387957-C-A P1_gr1 ***
13467139-A-T 11311463-A-T ***
24673177-A-G 22527030-A-G P3_b2 ***
22342545-T-C 20180659-T-C DYZ19 ***
22356884-T-A 20194998-T-A DYZ19 ***
22356163-T-G 20194277-T-G DYZ19 ***
22356079-A-T 20194193-A-T DYZ19 ***
22355031-G-T 20193145-G-T DYZ19 ***
22354278-G-A 20192392-G-A DYZ19 ***
22343220-G-A 20181334-G-A DYZ19 ***
22337609-T-A 20175723-T-A DYZ19 ***
22364791-C-T 20202905-C-T DYZ19 ***
22337427-G-T 20175541-G-T DYZ19 ***
22337196-T-G 20175310-T-G DYZ19 ***
22335734-G-T 20173848-G-T DYZ19 ***
22332893-A-T 20171007-A-T DYZ19 ***
22330453-G-T 20168567-G-T DYZ19 ***
22309237-C-A 20147351-C-A DYZ19 ***
22361129-A-T 20199243-A-T DYZ19 ***
22364916-C-T 20203030-C-T DYZ19 ***
58881942-C-T 56708929-G-A ***
22501963-G-A 20340077-G-A DYZ19 ***
24309367-T-A 22163220-T-A P3_t1 ***
24309338-G-A 22163191-G-A P3_t1 ***
23729940-G-A 21568054-G-A ***
23729924-T-C 21568038-T-C ***
23694963-G-A 21533077-G-A ***
22502727-T-A 20340841-T-A DYZ19 ***
22491854-A-G 20329968-A-G DYZ19 ***
22365776-G-T 20203890-G-T DYZ19 ***
22480703-G-T 20318817-G-T DYZ19 ***
22480689-C-A 20318803-C-A DYZ19 ***
22480685-G-T 20318799-G-T DYZ19 ***
22457166-C-T 20295280-C-T DYZ19 ***
22420877-A-G 20258991-A-G DYZ19 ***
22366975-A-T 20205089-A-T DYZ19 ***
22366550-G-T 20204664-G-T DYZ19 ***
58879350-C-G 56711521-G-C ***
58908494-A-T 56682377-T-A ***
58903236-C-T 56687635-G-A ***
23223305-TCC-AAA 21061419-TCC-AAA ***
22330199-TTCT-GTCC 20168313-TTCT-GTCC DYZ19 ***
22344763-TGGTTCT-AGGTTCA 20182877-TGGTTCT-AGGTTCA DYZ19 ***
22356064-G-CAAGA 20194178-G-CAAGA DYZ19 ***
22356131-TTCCA-GTCCT 20194245-TTCCA-GTCCT DYZ19 ***
22356142-GTGTAT-ATGTCC 20194256-GTGTAT-ATGTCC DYZ19 ***
22360572-CAATG-GAATT 20198686-CAATG-GAATT DYZ19 ***
22366946-GAA-CAG 20205060-GAA-CAG DYZ19 ***
22366964-CCTTC-ACTTA 20205078-CCTTC-ACTTA DYZ19 ***
22491364-GG-AA 20329478-GG-AA DYZ19 ***
22491371-GT-TC 20329485-GT-TC DYZ19 ***
22504609-CAGA-TAGG 20342723-CAGA-TAGG DYZ19 ***
22504673-AGTGT-CCTGG 20342787-AGTGT-CCTGG DYZ19 ***
22802868-A-ATTTTTTTTTTTTT 20640982-A-ATTTTTTTTTTTTT 32×T***
22949878-C-CTTTT 20787992-C-CTTTT 23×T***
23455053-AT-A 21293167-AT-A 14×T***
22268178-TTTGCAGCAT-GTTACAGCAC 20106292-TTTGCAGCAT-GTTACAGCAC DYZ19 ***
58831533-AATCCT-A 56759332-AAGGAT-A ***
58907251-ATCAAAT-TCCGATC 56683614-ATTTGAT-GATCGGA ***
58898683-TG-AT 56692187-CA-AT ***
58874504-GAATCCA-AAGACCG 56716361-TGGATTC-CGGTCTT ***
58840470-GGAGTCA-CGATTCG 56750395-TGACTCC-CGAATCG ***
58840409-TCCATTCCATTCGATTTAG-GCCAGTCGAATCCATTGTT 56750444-CTAAATCGAATGGAATGGA-AACAATGGATTCGACTGGC ***
58836729-TTCCATTCCTTTTGAA-T 56754118-TGGAATGGATTCAAAA-T ***
28804549-AACT-GATC 26658402-AACT-GATC ***
23729930-AGTGT-GGCA 21568044-AGTGT-GGCA ***
26526564-A-AT 24380417-A-AT P1_Y1 ***
26371786-GTCCACCAGCAC-ACCCAGTAGAAT 24225639-GTCCACCAGCAC-ACCCAGTAGAAT P1_Y1 ***
26260636-ATTT-A 24114489-ATTT-A P1_Y1 11×T***
25080053-C-CAAAAAAAAA 22933906-C-CAAAAAAAAA g1 20×A***
24446851-AAATAT-A 22300704-AAATAT-A ***
24207530-CTT-C 22061383-CTT-C P3_b1 14×T***
22272934-CTTTAG-C 20111048-CTTTAG-C DYZ19 ***
22245738-C-CTCTTAAAG 20083852-C-CTCTTAAAG DYZ19 ***
58904115-A-G 56686756-T-C ***
5776576-G-GA 5908535-G-GA 13×A***
58906473-C-T 56684398-G-A ***
22273629-C-A 20111743-C-A DYZ19 ***
58908497-T-A 56682374-A-T ***
58908510-C-A 56682361-G-T ***
58910560-A-C 56680311-T-G ***
58914170-C-T 56676701-G-A ***
18743590-CTATCTAT-C 16631710-CTATCTAT-C ***
3503421-C-CA 3635380-C-CA 15×A***
59004300-T-TAAA 56858153-T-TAAA 9×A***
5400870-C-CT 5532829-C-CT 21×T***
13120533-TG-AA 10610019-TG-AA ***
3404731-GA-G 3536690-GA-G 11×A***
4767593-A-AT 4899552-A-AT 12×T***
4778178-CA-C 4910137-CA-C 15×A***
5797462-TATATATATATATA-T 5929421-TATATATATATATA-T ***
21569958-T-TAAAAAAA 19408072-T-TAAAAAAA 46×A***
16494317-AATATAT-A 14382437-AATATAT-A 11×AT***
21086136-T-TAAA 18924250-T-TAAA 24×A***
19664953-C-CTT 17553073-C-CTT P5_Prx ***
19664951-A-AG 17553071-A-AG P5_Prx ***
18447621-G-GTTTTTTTTTTGT 16335741-G-GTTTTTTTTTTGT P6_Dst 18×T***
17919855-G-GAAAAAAAAA 15807975-G-GAAAAAAAAA 25×A***
17872639-CTTTTTT-C 15760759-CTTTTTT-C 17×T***
15022824-GTTT-G 12910913-GTT-G 16×T***
8462064-CAAAAAAAAAAAAA-C 8594023-CAAAAAAAAAAAAA-C 26×A***
13463867-GA-AG 11308191-GA-AG ***
13257285-ATATA-TTTTT 11101609-ATATA-TTTTT ***
13120523-CTC-AAG 10610009-CTC-AAG ***
9029736-CTTT-C 9192127-CTTT-C 16×T***
8901991-C-CTTTT 9033950-C-CTTTT 19×T***
8776547-C-CATATTTTTTT 8908506-C-CATATTTTTTT 24×T***
22284722-C-A 20122836-C-A DYZ19 ***
22234444-A-T 20072558-A-T DYZ19 ***
22267339-T-C 20105453-T-C DYZ19 ***
19669318-T-C 17557438-T-C P5_Prx ***
58863512-T-G 56727359-A-C ***
22327478-C-A 20165592-C-A DYZ19 ***
26260620-G-C 24114473-G-C P1_Y1 ***
26260678-G-A 24114531-G-A P1_Y1 ***
58837520-C-T 56753351-G-A 9×CCATT***
26260657-CAGCTC-TAACTT 24114510-CAGCTC-TAACTT P1_Y1 ***
13120504-C-T 10609990-C-T ***
26507919-A-T 24361772-A-T P1_Y1 ***
6493140-C-CA 6625099-C-CA 10×A***
13120501-TTTCAC-GTTTAA 10609987-TTTCAC-GTTTAA ***
22281998-CCGGAGTTTGTTCCTCCAGATGTGTA-C 20120112-CCGGAGTTTGTTCCTCCAGATGTGTA-C DYZ19 ***
24264287-A-AT 22118140-A-AT P3_b1 10×T***
58870534-TTTCCAT-ATTCGTTC 56720331-ATGGAAA-GAACGAAT ***
22337180-G-T 20175294-G-T DYZ19 ***
22225814-A-G 20063928-A-G DYZ19 ***
13931735-CTTTC-TTTTT 11811029-CTTTC-TTTTT ***
28793248-G-A 26647101-G-A ***
13716356-G-T 11560680-G-T ***
18332759-G-T 16220879-G-T P6_Prx ***
15400167-CA-C 13288287-CA-C 14×A***
3253829-CA-C 3385788-CA-C 18×A***
58877046-A-T 56713825-T-A ***
22235029-A-G 20073143-A-G DYZ19 ***
25323561-A-G 23177414-A-G P2_r1 ***
22249783-C-A 20087897-C-A DYZ19 ***
22426194-AG-A 20264308-AG-A DYZ19 ***
22313226-C-T 20151340-C-T DYZ19 ***
22298591-G-C 20136705-G-C DYZ19 ***
22277567-TC-T 20115681-TC-T DYZ19 ***
22276898-A-G 20115012-A-G DYZ19 ***
22268822-T-G 20106936-T-G DYZ19 ***
13486189-T-G 11330513-T-G ***
22367198-CTAATT-AGAATG 20205312-CTAATT-AGAATG DYZ19 ***
25508501-C-G 23362354-C-G P1_gr1 ***
3845140-TG-T 3977099-TG-T 11×G***
58835766-GCATTC-G 56755075-AAATGG-A 5×CATTC***
13483759-TGACT-AGATA 11328083-TGACT-AGATA ***
13734106-G-A 11578430-G-A ***
22309406-A-T 20147520-A-T DYZ19 ***
22504654-G-C 20342768-G-C DYZ19 ***
58843776-GTA-ATT 56747093-TAC-AAT ***
22361353-T-A 20199467-T-A DYZ19 ***
13120501-T-G 10609987-T-G ***
58839815-C-T 56751056-G-A ***
5191228-C-CTTTTTT 5323187-C-CTTTTTT 27×T***
13120472-TG-AC 10609958-TG-AC ***
19126436-C-CAAAAAAA 17014556-C-CAAAAAAA 25×A***
19937298-ACCCGCT-CCCCCCC 17825418-ACCCGCT-CCCCCCC P5_Prx ***
28802821-T-G 26656674-T-G ***
20544027-G-A 18382141-G-A P5_Dst ***
13445374-AA-G 11289698-AA-G ***
22491867-G-T 20329981-G-T DYZ19 ***
22367251-G-C 20205365-G-C DYZ19 ***
58906363-C-CCATTCCTTTCGATTG 56684501-T-TGGAATGCAATCGAAA ***
22309972-TTGTTTG-ATGTGTC 20148086-TTGTTTG-ATGTGTC DYZ19 ***
58882513-C-A 56708358-G-T ***
58879298-G-A 56711573-C-T ***
58874684-A-C 56716187-T-G ***
22234963-C-A 20073077-C-A DYZ19 ***
20544039-G-A 18382153-G-A P5_Dst ***
22251518-AA-CT 20089632-AA-CT DYZ19 ***
22364706-G-T 20202820-G-T DYZ19 ***
22265800-T-G 20103914-T-G DYZ19 ***
20252796-C-CAAAAAAA 18090910-C-CAAAAAAA P5_Dst 24×A***
13603629-ATT-A 11447953-ATT-A 15×T***
20544069-C-T 18382183-C-T P5_Dst ***
22457145-T-G 20295259-T-G DYZ19 ***
58843845-G-C 56747026-C-G ***
22248707-G-C 20086821-G-C DYZ19 ***
16868757-A-T 14756877-A-T ***
13120525-C-G 10610011-C-G ***
13333712-A-G 11178036-A-G ***
13360158-T-C 11204482-T-C ***
13481827-G-A 11326151-G-A ***
13531887-C-T 11376211-C-T ***
13698523-G-A 11542847-G-A ***
13704768-T-G 11549092-T-G ***
13716351-A-T 11560675-A-T ***
13728199-G-T 11572523-G-T ***
14088083-T-A 11967377-T-A ***
15248019-G-A 13136105-G-A ***
16868726-G-T 14756846-G-T ***
16868733-T-A 14756853-T-A ***
16868749-A-T 14756869-A-T ***
18332632-G-T 16220752-G-T P6_Prx ***
13120091-G-A 10609577-G-A ***
19706654-C-T 17594774-C-T P5_Prx ***
16535053-C-CT 14423173-C-CT 35×T***
20989196-A-C 18827310-A-C P4_Dst ***
20955886-C-A 18794000-C-A P4_Dst ***
20060782-C-A 17948902-C-A P5_Prx ***
19915853-G-T 17803973-G-T P5_Prx ***
19778797-G-T 17666917-G-T P5_Prx ***
19699667-C-T 17587787-C-T P5_Prx ***
18340493-C-T 16228613-C-T P6_Prx ***
19699666-C-T 17587786-C-T P5_Prx ***
19699626-G-A 17587746-G-A P5_Prx ***
19664949-G-C 17553069-G-C P5_Prx ***
19664923-G-T 17553043-G-T P5_Prx ***
18478520-C-T 16366640-C-T P6_Dst ***
18478494-A-C 16366614-A-C P6_Dst ***
13120099-G-A 10609585-G-A ***
13110907-T-C 10600393-T-C ***
58913084-G-A 56677787-C-T ***
26707411-C-T 24561264-C-T P1_g2 ***
58879788-C-T 56711083-G-A ***
13110851-T-G 10600337-T-G ***
58868012-G-C 56722859-C-G ***
13110866-TATG-ACTT 10600352-TATG-ACTT ***
13110880-GCC-TCA 10600366-GCC-TCA ***
22352870-ACA-CCT 20190984-ACA-CCT DYZ19 ***
22355125-C-T 20193239-C-T DYZ19 ***
22366563-G-T 20204677-G-T DYZ19 ***
19187385-A-ATTT 17075505-A-ATTT 28×T***
22234338-G-C 20072452-G-C DYZ19 ***
22337194-T-A 20175308-T-A DYZ19 ***
3550545-C-CA 3682504-C-CA 23×A***
23729951-T-C 21568065-T-C PF1911 ***
13120050-A-T 10609536-A-T ***
23729952-G-A 21568066-G-A Z25534 ***
13109582-C-A 10599068-C-A ***
3350534-G-A 3482493-G-A ***
7142286-C-T 7274245-C-T ***
6359015-G-A 6490974-G-A ***
6195051-G-T 6327010-G-T IR3_Dst ***
6195025-G-T 6326984-G-T IR3_Dst ***
4821910-C-T 4953869-C-T ***
4820735-C-G 4952694-C-G ***
3313964-T-C 3445923-T-C ***
58917513-T-G 56673358-A-C ***
22480658-A-T 20318772-A-T DYZ19 ***
26376705-G-A 24230558-G-A P1_Y1 ***
22355017-G-A 20193131-G-A DYZ19 ***
26344352-C-T 24198205-C-T P1_Y1 ***
22354299-G-A 20192413-G-A DYZ19 ***
13468606-G-A 11312930-G-A ***
59013640-TTTTTTTT-A 56867493-TTTTTTTT-A ***

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. 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.

Uncertain Mutations

NGS tests don't always cover all of the Y chromosome and, even when they do, the results can be inconclusive. The following mutations don't have clear results and have been assumed to be positive or negative. For those mutations that are assumed to be positive, the assumed SNP/INDEL will likely be found on the tree in some upstream block. It is unclear if it should be placed upstream of your results or parallel to them. The situation is reversed for mutations assumed negative. Those SNPs/INDELs will likely be found on a parallel branch on the tree, and it is unclear if they should be positioned upstream. As more results come in, the ambiguity may resolve itself, or it may be necessary to consult the BAM file for your test (available from FamilyTreeDNA or FullGenomes Corp) or by direct SNP testing (Sanger Sequencing - YSEQ or FamilyTreeDNA).

SNPs/INDELs:

BlockRegionPOS-REF-ALT (hg19)POS-REF-ALT (hg38)NamesNotes
630 14116652-GAGAT-G 11995946-GAGAT-G BY13486 Uncertain, but assumed positive.

Haplotype Progression

The data below reveals the progression of changes in the haplotype. The bottom row is the haplotype for this man and above him are the inferred ancestral haplotypes for various upstream blocks. These inferred haplotypes are very much a work in progress, and any suggested modifications are appreciated. I think we can use our vast collection of haplotype data to refine these haplotypes. Mutations made from each upstream block are shown in sequence. The cell color is determined by the block in which the mutation took place.

DYS393
DYS390
DYS19
DYS391
DYS385
DYS426
DYS388
DYS439
DYS389i
DYS392
DYS389ii
DYS458
DYS459
DYS455
DYS454
DYS447
DYS437
DYS448
DYS449
DYS464
DYS460
Y-GATA-H4
YCAII
DYS456
DYS607
DYS576
DYS570
CDY
DYS442
DYS438
DYS531
DYS578
DYF395S1
DYS590
DYS537
DYS641
DYS472
DYF406S1
DYS511
DYS425
DYS413
DYS557
DYS594
DYS436
DYS490
DYS534
DYS450
DYS444
DYS481
DYS520
DYS446
DYS617
DYS568
DYS487
DYS572
DYS640
DYS492
DYS565
DYS710
DYS485
DYS632
DYS495
DYS540
DYS714
DYS716
DYS717
DYS505
DYS556
DYS549
DYS589
DYS522
DYS494
DYS533
DYS636
DYS575
DYS638
DYS462
DYS452
DYS445
Y-GATA-A10
DYS463
DYS441
Y-GGAAT-1B07
DYS525
DYS712
DYS593
DYS650
DYS532
DYS715
DYS504
DYS513
DYS561
DYS552
DYS726
DYS635
DYS587
DYS643
DYS497
DYS510
DYS434
DYS461
DYS435
P312/S1161324141111-14121212131329179-1011112515192915-15-17-17111119-231615181736-38121211915-1681010810101223-231610121215812222013121113111112123315916122626191211131210912121011113012132413101020151913241712152412231810141791211
Leinenbach1324141011-14121212131329189-911112514182917-17-17-1711919-231515191736-36121211915-1681010810101223-231610121215813222013121113111112113515917112726191210131210912121011113012132414101121151813241713152512231810141691211

Age Analysis Information (work in progress)

AllMcDonaldYFull
Kit: B64321071381777865127857380
Used in age calculations1071381777865127857380
Counts of SNPs00
Variant counts last updated 2017-11-05 23:03:18.



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