Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > ZZ10 > Z253 > Z2534 > ZZ5 > Z2187 > Z2201 > DF73 > Z2188 > Z17259 > Z29749 > FT300610 > FT302643

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
HG01503
Manual
Edits
16890682-T-G 14778802-T-G YY+
22703625-AG-A 20541739-AG-A +
22238328-C-T 20076442-C-T DYZ19 +
15260684-C-T 13148768-C-T F19656 YY25×T+
19202958-G-A 17091078-G-A YY+
19202962-G-A 17091082-G-A YY+
9307398-T-G 9469789-T-G BY176667 Y15×TG+
14512004-A-G 12400209-A-G CTS2836 Y+
8842965-AG-A 8974924-AG-A +
13807475-A-C 11686769-A-C FGC189 DYZ17 +
21117888-C-T 18956002-C-T PF6141PF6141 YY+
15260679-C-T 13148763-C-T YY+
17998593-G-A 15886713-G-A P7_Gap Y+
58890493-C-T 56700378-G-A +
26180133-T-G 24033986-T-G P1_Y1 +
22353535-A-G 20191649-A-G FT55175 DYZ19 +
28491009-G-A 26344862-G-A +
18801906-A-C 16690026-A-C CTS9286 YY+
58915191-T-C 56675680-A-G +
58894855-A-G 56696016-T-C +
13618495-G-A 11462819-G-A +
13618508-T-A 11462832-T-A +
16990254-G-A 14878374-G-A YY+
26180188-T-C 24034041-T-C P1_Y1 +
13963821-T-C 11843115-T-C Y+
4260977-T-C 4392936-T-C +
22219978-C-A 20058092-C-A PF4599 DYZ19 +
5941845-T-C 6073804-T-C +
13503733-C-T 11348057-C-T +
17707400-G-A 15595520-G-A BY47794 YY+
28491035-T-C 26344888-T-C +
13445160-G-T 11289484-G-T +
6157915-G-A 6289874-G-A IR3_Dst +
18916004-C-T 16804124-C-T YY+
5523890-G-T 5655849-G-T +
19231317-TTC-T 17119437-TTC-T +
13265013-C-G 11109337-C-G +
13265014-A-G 11109338-A-G +
7241839-C-G 7373798-C-G Y+
2657940-G-C 2789899-G-C YY+
3035771-C-T 3167730-C-T +
3065775-C-A 3197734-C-A +
3166554-A-T 3298513-A-T +
3166559-C-T 3298518-C-T +
3175149-G-A 3307108-G-A +
3434288-CT-C 3566247-CT-C +
3487162-A-C 3619121-A-C +
3492017-T-C 3623976-T-C Z9950 +
3560828-A-G 3692787-A-G +
3607966-A-G 3739925-A-G +
3607971-T-C 3739930-T-C +
3609389-A-G 3741348-A-G +
3640728-CCTT-C 3772687-CCTT-C +
3812741-C-A 3944700-C-A +
3869084-G-C 4001043-G-C FT318783 +
3873186-C-A 4005145-C-A 15×A+
3934659-G-T 4066618-G-T +
4021946-G-T 4153905-G-T +
4261308-C-T 4393267-C-T +
4279721-A-G 4411680-A-G +
4279764-A-G 4411723-A-G +
4358682-CCA-C 4490641-CCA-C +
4487724-T-C 4619683-T-C +
4529092-T-C 4661051-T-C +
4529168-C-A 4661127-C-A +
4529190-C-T 4661149-C-T +
4640689-C-T 4772648-C-T +
4769922-C-T 4901881-C-T PR4366 +
4796228-T-G 4928187-T-G +
4932704-TAC-T 5064663-TAC-T +
4978408-T-G 5110367-T-G +
5017610-CACAA-C 5149569-CACAA-C +
5270689-A-T 5402648-A-T +
5421472-A-C 5553431-A-C 4×TCCC+
5691763-C-A 5823722-C-A +
5692055-T-G 5824014-T-G +
5695930-C-A 5827889-C-A 14×A+
5702618-AAC-A 5834577-AAC-A +
5702619-AC-A 5834578-AC-A +
5744718-T-C 5876677-T-C FT324939 +
5828483-C-T 5960442-C-T +
5998402-A-G 6130361-A-G +
6403003-C-G 6534962-C-G +
6598157-C-T 6730116-C-T FT326938 +
6644611-T-C 6776570-T-C FGC3272 YY+
6674498-C-T 6806457-C-T YY+
6768779-AG-A 6900738-AG-A +
7131375-G-T 7263334-G-T YY+
7179825-G-A 7311784-G-A PF5086 CTS1063 YY+
7200285-TG-T 7332244-TG-T +
7258787-G-A 7390746-G-A Y+
7353793-G-T 7485752-G-T YY+
7392186-ATT-A 7524145-ATT-A +
7747224-T-C 7879183-T-C FT300239 YY+
8043994-G-A 8175953-G-A Y+
8498327-A-C 8630286-A-C YY+
8566852-T-TG 8698811-T-TG +
8740693-A-T 8872652-A-T Y+
8776546-G-T 8908505-G-T YY+
8823304-C-A 8955263-C-A YY+
9075209-G-T 9237600-G-T Y+
9307402-G-GTT 9469793-G-GTT +
9307403-T-TTC 9469794-T-TTC +
9789318-GTA-G 9951709-GTA-G +
9806033-G-C 9968424-G-C YY+
9830994-C-CG 9993385-C-CG +
9847317-T-TTTC 10009708-T-TTTC +
13223678-T-G 11068002-T-G +
13241687-A-G 11086011-A-G +
13258557-TC-T 11102881-TC-T +
13261821-CT-C 11106145-CT-C +
13261840-A-C 11106164-A-C +
13265855-C-T 11110179-C-T +
13265881-T-C 11110205-T-C A4990 +
13282056-T-C 11126380-T-C +
13301196-T-C 11145520-T-C +
13390289-T-G 11234613-T-G +
13415463-C-T 11259787-C-T +
13415469-T-C 11259793-T-C +
13415490-C-A 11259814-C-A +
13415518-G-T 11259842-G-T +
13415774-C-T 11260098-C-T +
13428918-G-C 11273242-G-C +
13428935-G-C 11273259-G-C +
13433114-A-T 11277438-A-T +
13475187-G-A 11319511-G-A +
13500608-T-C 11344932-T-C +
13501206-AGGCGTACACTACCACACCT-A 11345530-AGGCGTACACTACCACACCT-A +
13501570-G-A 11345894-G-A +
13503705-A-G 11348029-A-G +
13504424-A-G 11348748-A-G +
13514248-C-T 11358572-C-T +
13538517-T-C 11382841-T-C Z11998 +
13570120-A-AG 11414444-A-AG +
13582662-T-A 11426986-T-A +
13606751-C-G 11451075-C-G +
13618226-T-G 11462550-T-G +
13618264-A-G 11462588-A-G +
13618863-A-C 11463187-A-C +
13711737-T-C 11556061-T-C DYZ17 +
14071336-A-C 11950630-A-C YY+
14195377-T-A 12074671-T-A Z1322 CTS2137 Y+
14372881-CA-C 12252177-CA-C +
14390379-CTA-C 12269675-CTA-C +
14399101-A-AC 12278398-A-AC +
14499535-C-A 12387740-C-A YY+
14658043-G-T 12546108-G-T YY+
14709272-C-CT 12597338-C-CT +
14881732-GTA-G 12769800-GTA-G +
14926335-C-G 12814400-C-G YY+
15059923-A-C 12948015-A-C YY+
15076176-TA-T 12964266-TA-T +
15161248-A-C 13049334-A-C YY+
15173782-C-A 13061868-C-A YY13×A+
15260668-G-T 13148752-G-T YY+
15283592-G-T 13171691-G-T Y+
15297311-T-TTTG 13185410-T-TTTG +
15335199-C-G 13223317-C-G YY+
15507783-G-T 13395903-G-T YY25×T+
15536385-T-G 13424505-T-G YY+
15683126-G-A 13571246-G-A Y+
15683137-A-C 13571257-A-C Y+
15782903-T-G 13671023-T-G YY+
16013095-A-G 13901215-A-G Y+
16013110-G-A 13901230-G-A Y+
16013128-G-A 13901248-G-A Y+
16237238-G-T 14125358-G-T YY+
16409062-T-G 14297182-T-G YY+
16692784-AG-A 14580904-AG-A +
16834619-C-G 14722739-C-G YY+
16897676-T-A 14785796-T-A YY+
16990260-G-A 14878380-G-A YY+
17227012-A-C 15115132-A-C M4128 Y+
17447724-G-T 15335844-G-T FT301640 YY+
17474911-A-C 15363031-A-C YY+
17561982-TG-T 15450102-TG-T +
17561989-TG-T 15450109-TG-T +
17593413-T-G 15481533-T-G YY+
17637636-CAA-C 15525756-CAA-C +
17718438-TA-T 15606558-TA-T +
17833143-TG-T 15721263-TG-T +
17948270-G-T 15836390-G-T YY+
17998317-T-C 15886437-T-C P7_Gap Y+
18036532-C-G 15924652-C-G YY+
18151469-A-C 16039589-A-C YY+
18258827-T-C 16146947-T-C +
18636631-A-T 16524751-A-T YY+
18666670-T-G 16554790-T-G YY+
18723883-TC-T 16612003-TC-T +
18723886-TC-T 16612006-TC-T +
18924030-A-T 16812150-A-T S21476 YY+
18924038-A-G 16812158-A-G YY+
19042209-G-A 16930329-G-A Y+
19129296-C-A 17017416-C-A CTS9902 YY+
19202982-G-A 17091102-G-A M2599 YY+
19233804-T-C 17121924-T-C YY+
19286405-C-A 17174525-C-A M8853 YY11×A+
19314726-TG-T 17202846-TG-T +
19314728-TA-T 17202848-TA-T +
19318136-C-T 17206256-C-T YY+
20826414-TG-T 18664528-TG-T P4_Gap +
21644438-T-G 19482552-T-G YY+
21870887-T-G 19709001-T-G YY+
21924074-A-C 19762188-A-C YY+
22160397-G-T 19998511-G-T F3291 YY+
22217692-T-G 20055806-T-G DYZ19 +
22238559-C-A 20076673-C-A BY37074 DYZ19 +
22245288-C-A 20083402-C-A DYZ19 +
22258151-G-T 20096265-G-T DYZ19 +
22568342-C-T 20406456-C-T M4919 YY+
22949512-C-T 20787626-C-T YY17×T+
23084723-TG-T 20922837-TG-T +
23790098-T-C 21628212-T-C FT302982 +
23984113-C-A 21837966-C-A FT369642 Y+
24355621-TACAC-T 22209474-TACAC-T 13×AC+
24408990-GA-G 22262843-GA-G +
24417076-AAG-A 22270929-AAG-A +
24417078-G-GAA 22270931-G-GAA +
27575928-C-T 25429781-C-T P1_Y2 +
28596541-A-C 26450394-A-C +
28726564-C-A 26580417-C-A Y+
58873959-T-C 56716912-A-G +
58901504-C-G 56689367-G-C +
58976127-T-A 56829980-T-A +
59024417-C-CAA 56878270-C-CAA +
59024418-A-ACG 56878271-A-ACG +
59024420-A-ACC 56878273-A-ACC +

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.

Mutation Notes:

Kit POSITION-REF-ALT (hg19) POSITION-REF-ALT (hg38) Note
Manual18746112-TAAC-T16634232-TAAC-T2 reads, and both show the deletion.
Manual18899760-T-C16787880-T-COne read, a C.
Manual22630214-G-A20468328-G-AOne read, an A.
Manual28590320-GAGT-G26444173-GAGT-G1 read
Manual22318833-T-A20156947-T-A6T 3A
Manual6295218-G-A6427177-G-A1A 1G
Manual4177080-G-A4309039-G-A1A
Manual9980889-C-T10143280-C-T1T
Manual16900180-T-C14788300-T-C1C
Manual18363377-A-G16251497-A-G2A 1G
Manual19617247-C-T17505367-C-T2C 1T
Manual19769512-A-G17657632-A-G1A 1G
Manual22563790-C-A20401904-C-A2A