Tree Position

R-P312/S116 > Z290 > L21/S145 > DF13 > ZZ10 > Z253 > Z2534 > ZZ5 > Z2185 > BY44331 > Z2186 > L1066 > Z40246

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
HG01500
8110520-A-T 8242479-A-T YY+
13549878-TTG-T 11394202-TTG-T 14×TG+
13337012-G-A 11181336-G-A +
13346071-C-CAA 11190395-C-CAA 18×A+
13373991-G-A 11218315-G-A +
13392768-CA-C 11237092-CA-C 11×A+
13398872-C-T 11243196-C-T +
13414169-A-G 11258493-A-G +
13431742-T-C 11276066-T-C +
13448891-C-CTCCAG 11293215-C-CTCCAG +
13450429-TATTCC-T 11294753-TATTCC-T 10×ATTCC+
13468061-G-C 11312385-G-C +
13499890-A-G 11344214-A-G +
13501963-A-G 11346287-A-G +
13504576-C-G 11348900-C-G +
13579097-T-C 11423421-T-C FGC53656 +
13319375-C-G 11163699-C-G S531 +
13587434-C-G 11431758-C-G +
13606497-C-A 11450821-C-A +
13636021-G-A 11480345-G-A +
13747099-G-C 11591423-G-C +
13903151-T-C 11782445-T-C Y+
13903163-A-G 11782457-A-G Y+
13933455-C-T 11812749-C-T Y+
13960528-G-C 11839822-G-C Y+
13960531-G-C 11839825-G-C Y+
14025570-G-GAAAC 11904864-G-GAAAC +
14083984-A-AGATT 11963278-A-AGATT +
14143410-T-TA 12022704-T-TA +
14235938-G-A 12115232-G-A Y14677 YY+
13323522-C-A 11167846-C-A +
13319344-A-ATG 11163668-A-ATG BY14118 10×TG+
14619418-T-C 12507616-T-C Y+
13260727-A-G 11105051-A-G +
9429477-TAATA-T 9591868-TAATA-T +
9942899-A-C 10105290-A-C Y+
9974579-G-A 10136970-G-A GG366 Y+
9974644-T-C 10137035-T-C Y+
13206798-A-AAG 11051122-A-AAG +
13240309-A-G 11084633-A-G +
13240635-T-A 11084959-T-A +
13245355-A-G 11089679-A-G +
13252413-C-T 11096737-C-T +
13257747-A-T 11102071-A-T +
13259326-G-A 11103650-G-A +
13259744-G-T 11104068-G-T +
13259914-G-C 11104238-G-C +
13267608-AGG-A 11111932-AGG-A +
13308570-G-A 11152894-G-A +
13267609-GGAAA-G 11111933-GGAAA-G +
13267977-G-GC 11112301-G-GC +
13268960-A-T 11113284-A-T +
13268961-T-C 11113285-T-C +
13269414-ATC-A 11113738-ATC-A +
13273371-CT-C 11117695-CT-C 10×T+
13276504-G-A 11120828-G-A +
13279683-T-C 11124007-T-C +
13279688-A-G 11124012-A-G +
13285619-A-G 11129943-A-G +
13292656-T-C 11136980-T-C +
13304586-A-AAG 11148910-A-AAG +
13308567-C-T 11152891-C-T +
14406357-C-CG 12285654-C-CG +
14667694-AT-A 12555759-AT-A +
9385719-GC-G 9548110-GC-G +
23476059-C-A 21314173-C-A YY+
21965774-C-A 19803888-C-A Y19×A+
22293627-C-G 20131741-C-G DYZ19 +
22362288-T-C 20200402-T-C DYZ19 +
22463527-A-T 20301641-A-T ZS5554 DYZ19 +
22610624-C-A 20448738-C-A YY+
22688775-G-A 20526889-G-A YY+
22793746-A-C 20631860-A-C YY+
22812666-T-A 20650780-T-A YY+
22821814-C-T 20659928-C-T YY+
22903832-GTA-G 20741946-GTA-G +
22903845-TAC-T 20741959-TAC-T +
22982689-G-T 20820803-G-T CTS11157 Y+
23364087-C-A 21202201-C-A Y16×A+
28492689-CAA-C 26346542-CAA-C 18×A+
21965763-C-A 19803877-C-A Y+
28571305-C-T 26425158-C-T +
28571312-A-G 26425165-A-G +
28571333-A-C 26425186-A-C +
28592004-ATG-A 26445857-ATG-A 18×TG+
28603927-A-G 26457780-A-G +
28684707-A-G 26538560-A-G +
28694198-T-A 26548051-T-A CTS12760 M8147 +
28726259-A-G 26580112-A-G Y+
28794925-G-A 26648778-G-A BY151464 +
28794982-A-C 26648835-A-C +
28794984-A-G 26648837-A-G +
28818197-G-GAATGT 26672050-G-GAATGT +
58846205-G-T 56744666-C-A +
21965773-AC-A 19803887-AC-A +
21965752-G-A 19803866-G-A Y+
14951160-T-C 12839234-T-C YY+
17633806-T-A 15521926-T-A YY+
15076196-TG-T 12964286-TG-T +
15260634-A-C 13148718-A-C YY+
15411308-C-CAAA 13299428-C-CAAA 30×A+
15411338-AGCC-A 13299458-AGCC-A +
15852758-A-C 13740878-A-C YY+
16012889-A-C 13901009-A-C Y+
16040014-T-G 13928134-T-G CTS5151 YY+
16262781-G-T 14150901-G-T YY+
16271851-C-T 14159971-C-T YY+
16883270-T-G 14771390-T-G Y+
17143860-T-A 15031980-T-A YY+
17143869-G-T 15031989-G-T F2398 YY+
17335388-C-T 15223508-C-T YY+
17675561-AG-A 15563681-AG-A +
21880825-G-C 19718939-G-C YY+
17793863-T-TATCA 15681983-T-TATCA +
18393269-T-TATC 16281389-T-TATC P6_Gap +
18396682-G-T 16284802-G-T P6_Gap +
19082978-G-T 16971098-G-T Y+
19103918-A-T 16992038-A-T YY+
19293537-G-A 17181657-G-A CTS10150 M6262 YY+
19411942-G-GAAAT 17300062-G-GAAAT +
19438298-A-G 17326418-A-G YY+
19438309-C-G 17326429-C-G YY+
21058022-A-G 18896136-A-G Y+
21104480-T-G 18942594-T-G YY+
21170377-C-G 19008491-C-G M4409 YY+
21230143-A-C 19068257-A-C YY+
21251811-C-CT 19089925-C-CT +
9429476-ATAAT-A 9591867-ATAAT-A +
8967731-A-G 9130122-A-G +
58849461-A-T 56741410-T-A +
13606498-A-C 11450822-A-C +
15554157-G-A 13442277-G-A YY+
16664472-C-A 14552592-C-A Y+
16809387-T-C 14697507-T-C Y3008 YY+
18101895-G-T 15990015-G-T YY+
18171371-G-T 16059491-G-T YY+
18843843-C-T 16731963-C-T YY+
22022078-G-A 19860192-G-A FGC3530 S5818 YY+
22081262-C-G 19919376-C-G YY+
23544818-C-G 21382932-C-G YY+
13503964-T-C 11348288-T-C +
13503969-A-C 11348293-A-C +
13308641-A-C 11152965-A-C +
2945811-G-C 3077770-G-C +
3655089-T-G 3787048-T-G 8×G+
13950475-A-G 11829769-A-G Y2272 Y+
4537608-A-T 4669567-A-T +
23831252-C-T 21669366-C-T Y26×T+
4537610-C-T 4669569-C-T +
58863277-A-C 56727594-T-G +
3568672-T-C 3700631-T-C +
13909371-T-C 11788665-T-C YY+
58884885-A-C 56705986-T-G +
22974074-T-A 20812188-T-A YY+
13529810-T-G 11374134-T-G +
13275929-A-AT 11120253-A-AT +
13390343-T-G 11234667-T-G +
3172144-G-C 3304103-G-C +
3164640-T-C 3296599-T-C PF26 L412 +
14191947-G-T 12071241-G-T YY11×T+
7924343-A-T 8056302-A-T Y+
2745947-T-G 2877906-T-G YY+
59020997-T-G 56874850-T-G +
22295984-C-T 20134098-C-T DYZ19 +
58856121-A-C 56734750-T-G +
13384812-G-A 11229136-G-A BY15623 +
15865549-C-T 13753669-C-T YY22×T+
13960760-G-T 11840054-G-T CTS1550 Y+
28794922-A-G 26648775-A-G +
19103894-G-T 16992014-G-T A10277 YY+
58823286-T-C 56767585-A-G 8×CATTC+
13569835-T-TA 11414159-T-TA 11×A+
13432517-C-G 11276841-C-G +
58863232-T-C 56727639-A-G +
13256715-G-A 11101039-G-A +
7622037-A-C 7753996-A-C YY+
8660569-G-A 8792528-G-A Y+
7852522-A-T 7984481-A-T Z3716 V1474 YY+
13256666-A-C 11100990-A-C +
13470860-A-T 11315184-A-T +
59022922-G-C 56876775-G-C +
3280099-A-G 3412058-A-G +
21112410-T-TAC 18950524-T-TAC 17×AC+
3509664-A-G 3641623-A-G +
13240346-C-T 11084670-C-T +
19442403-C-A 17330523-C-A YY+
17694609-G-A 15582729-G-A YY14×A+
18867364-G-T 16755484-G-T YY+
2818590-T-C 2950549-T-C YY+
7254814-A-G 7386773-A-G Y+
7265231-C-A 7397190-C-A S2156 YY+
17304959-G-GATAA 15193079-G-GATAA +
2837602-G-A 2969561-G-A FGC53654 YY+
8888359-C-T 9020318-C-T Y+
6093500-C-A 6225459-C-A +
5357363-T-C 5489322-T-C +
5364686-G-GT 5496645-G-GT +
5364743-T-G 5496702-T-G +
5426636-T-C 5558595-T-C +
5522180-A-C 5654139-A-C +
5550280-G-GTTTT 5682239-G-GTTTT 39×T+
5554128-A-G 5686087-A-G +
5554844-C-T 5686803-C-T +
5557265-G-A 5689224-G-A +
5660188-C-A 5792147-C-A FGC52775 +
6006838-G-T 6138797-G-T +
6006845-C-T 6138804-C-T +
6093487-A-G 6225446-A-G +
6413826-C-T 6545785-C-T +
5315528-G-T 5447487-G-T +
6600661-T-C 6732620-T-C +
6858419-C-A 6990378-C-A YY+
7503849-CAA-C 7635808-CAA-C IR1_L +
7545011-T-TC 7676970-T-TC +
7545014-G-GC 7676973-G-GC +
7567753-C-CTTT 7699712-C-CTTT 25×T+
7758761-T-G 7890720-T-G Y+
8214859-TG-T 8346818-TG-T +
8431246-G-T 8563205-G-T YY+
8439234-T-TTTA 8571193-T-TTTA +
8556297-A-C 8688256-A-C YY+
8734236-AC-A 8866195-AC-A +
8762192-G-C 8894151-G-C YY+
5338437-G-T 5470396-G-T +
5248638-TC-T 5380597-TC-T +
2859972-A-T 2991931-A-T YY+
3722679-C-A 3854638-C-A +
2859987-C-T 2991946-C-T YY16×T+
2900547-T-C 3032506-T-C Y+
2919230-G-C 3051189-G-C +
2988267-G-A 3120226-G-A +
3024740-G-T 3156699-G-T +
3200263-CTG-C 3332222-CTG-C 15×TG+
3446607-C-CAAA 3578566-C-CAAA 25×A+
3452966-C-T 3584925-C-T +
3511872-G-T 3643831-G-T +
3541033-C-A 3672992-C-A +
3572543-T-G 3704502-T-G +
3628401-A-G 3760360-A-G +
3655081-C-G 3787040-C-G +
3827432-T-G 3959391-T-G +
5128850-A-T 5260809-A-T +
3927246-C-T 4059205-C-T +
4032131-G-T 4164090-G-T +
4048033-A-G 4179992-A-G Z18643 +
4067395-AG-A 4199354-AG-A +
4251029-C-T 4382988-C-T +
4269138-G-T 4401097-G-T +
4328388-T-G 4460347-T-G +
4346539-A-C 4478498-A-C FGC24477 +
4488150-C-A 4620109-C-A +
4630150-G-GTT 4762109-G-GTT +
5022667-G-GGT 5154626-G-GGT 12×GT+
5022691-T-TGTC 5154650-T-TGTC +
5022692-T-TTC 5154651-T-TTC +
5082944-A-AT 5214903-A-AT 12×T+
58970429-T-C 56824282-T-C +

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.




Big Tree Main Page