Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > Z195/S355 > Z198 > Z46513 > L165/S68 > FGC29987

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 STRBigY3
B376203
3701507-A-G 3833466-A-G A+
10959510-A-G A*
10989156-C-G A*
3622376-A-AT 3754335-A-AT 9×TA*
56831234-C-T A*
28817846-G-T 26671699-G-T A*
6182955-T-C 6314914-T-C IR3_Dst A*
10686549-T-C A*
16097770-G-C 13985890-G-C P8_Prx A*
19786422-G-C 17674542-G-C P5_Prx A*
19873158-G-A 17761278-G-A P5_Prx A*
19877781-T-G 17765901-T-G P5_Prx A*
20665882-T-C 18503996-T-C P4_Prx A*
20729869-C-T 18567983-C-T P4_Prx A*
20785164-T-C 18623278-T-C P4_Prx A*
24280329-T-C 22134182-T-C P3_t1 A*
25859942-C-G 23713795-C-G P1_Y1 A*
25978551-T-C 23832404-T-C P1_Y1 A*
26401806-C-A 24255659-C-A P1_Y1 A*
5449442-G-T 5581401-G-T FT419968 +
2889543-G-C 3021502-G-C FT419619 YY+
3210691-A-G 3342650-A-G FT203059 +
3537793-C-T 3669752-C-T FT419695 +
3770442-C-T 3902401-C-T FT203182 +
3913818-G-T 4045777-G-T FT203214 +
4723609-G-A 4855568-G-A FT203389 +
4834313-G-A 4966272-G-A FT203418 +
4962154-C-T 5094113-C-T FT419909 +
5137788-G-C 5269747-G-C FT203484 +
5157556-A-G 5289515-A-G FT203491 +
5222070-T-G 5354029-T-G FT419940 +
5533840-AC-A 5665799-AC-A +
6462273-A-G 6594232-A-G FT203739 +
7535281-C-T 7667240-C-T FT420185 YY+
8362760-A-G 8494719-A-G BY36279 YY+
8365823-C-T 8497782-C-T FT420283 YY+
8776724-G-T 8908683-G-T FT179517 YY+
8853654-AG-A 8985613-AG-A +
8867450-T-G 8999409-T-G BY76448 Y+
9943733-T-A 10106124-T-A FT426589 Y+
10072124-C-A 10234515-C-A FT268499 +
13490936-C-G 11335260-C-G FT444257 +
13621190-T-C 11465514-T-C FT268500 +
13851054-A-G 11730348-A-G BY36280 +
14034116-C-T 11913410-C-T FT204352 YY+
14107352-G-A 11986646-G-A FT204365 Y+
14180287-G-C 12059581-G-C FT420470 Y+
14245819-T-C 12125113-T-C FT420482 YY+
14308610-T-C 12187904-T-C FT420492 YY+
14758112-C-T 12646181-C-T FT420543 Y+
15752305-A-G 13640425-A-G BY36281 YY+
17528946-G-A 15417066-G-A BY36282 YY+
17792969-T-C 15681089-T-C BY36283 YY+
17986215-C-T 15874335-C-T FT420881 Y+
18136119-G-A 16024239-G-A FT420900 YY+
18215214-T-A 16103334-T-A BY36284 YY+
18232886-A-G 16121006-A-G FT420923 Y+
18770529-T-C 16658649-T-C BY36285 YY+
19159267-G-C 17047387-G-C BY36286 YY+
19216910-T-A 17105030-T-A BY36287 YY+
19216911-C-A 17105031-C-A BY36288 YY+
19221685-T-C 17109805-T-C FT421030 YY+
21562133-C-A 19400247-C-A FT182160 YY+
22479023-C-T 20317137-C-T DYZ19 +
22603545-T-C 20441659-T-C BY36291 YY+
22940724-A-C 20778838-A-C BY36292 YY+
23142542-G-T 20980656-G-T FT421269 Y+
23730809-G-C 21568923-G-C BY147170 +
24468103-A-G 22321956-A-G BY36293 Y+
25942941-G-C 23796794-G-C P1_Y1 +
28580532-C-T 26434385-C-T FT205916 +
28773845-GGAA-G 26627698-GGAA-G +
16809474-GAGATAGAT-G 14697594-GAGATAGAT-G 10×AGAT*
10803923-C-CTCCAT *
10767663-T-C *
4554311-C-CAGGG 4686270-C-CAGGG 6×AGGG*
10056830-A-G 10219221-A-G *
24007414-A-G 21861267-A-G Y*
17265021-A-C 15153141-A-C A10407 **
9925222-T-A 10087613-T-A **
8724350-A-G 8856309-A-G Y137166 **
9307430-A-G 9469821-A-G **
22470260-A-T 20308374-A-T BY53010 DYZ19 **
14496334-C-T 12384539-C-T **
14496335-A-G 12384540-A-G **
22446848-C-A 20284962-C-A DYZ19 **
15001383-G-A 12889468-G-A FT204556 **
9313807-T-C 9476198-T-C **
9925276-G-C 10087667-G-C **
14108646-A-T 11987940-A-T **
14294297-TA-T 12173591-TA-T 8×A**
10809325-CTCCATTCCATTCCAT-C **
22470149-T-C 20308263-T-C BY36289 DYZ19 **
20568594-C-A 18406708-C-A P5_Dst **
22470140-G-T 20308254-G-T BY222360 DYZ19 **
18095757-AATAT-A 15983877-AATAT-A **
22447044-A-C 20285158-A-C DYZ19 **
22446852-C-T 20284966-C-T DYZ19 **
4127706-CA-C 4259665-CA-C 8×A**
3746660-A-T 3878619-A-T **
4055179-A-G 4187138-A-G **
4186738-T-A 4318697-T-A FT203293 **
4366025-C-G 4497984-C-G FT203328 **
5155400-T-C 5287359-T-C **
5515905-A-G 5647864-A-G **
5882963-C-A 6014922-C-A **
6409641-T-C 6541600-T-C **
6458839-A-T 6590798-A-T **
6861556-A-G 6993515-A-G **
9307419-T-TATG 9469810-T-TATG **
9925224-G-A 10087615-G-A **
13718260-G-T 11562584-G-T **
14684021-A-G 12572087-A-G **
15848848-A-C 13736968-A-C **
17712301-G-C 15600421-G-C **
18139583-C-T 16027703-C-T **
21561469-A-G 19399583-A-G **
22429784-G-A 20267898-G-A DYZ19 **
22470124-C-CAG 20308238-C-CAG DYZ19 **
22470142-A-C 20308256-A-C BY222361 DYZ19 **
22470224-G-T 20308338-G-T BY36290 DYZ19 **
22470248-A-C 20308362-A-C BY222383 DYZ19 **
22470269-G-A 20308383-G-A DYZ19 **
22691715-A-G 20529829-A-G **
23730723-C-T 21568837-C-T BY147167 **
23730771-C-A 21568885-C-A BY147169 **
24432350-CT-C 22286203-CT-C **
19231315-G-T 17119435-G-T ***
18705097-G-GATTT 16593217-G-GATTT 7×ATTT***
13488084-G-A 11332408-G-A ***
13478998-G-A 11323322-G-A ***
17756637-T-A 15644757-T-A FGC71525 ***
8703659-A-T 8835618-A-T BY75299 18×T***
20489582-ATT-A 18327696-ATT-A P5_Dst ***
17114685-T-TAC 15002805-T-TAC 19×AC***
18565591-ATT-A 16453711-ATT-A 15×T***
28706244-GTT-G 26560097-GTT-G 13×T***
7099189-C-A 7231148-C-A ***
10801005-A-AATTCC ***
16919410-G-GA 14807530-G-GA 9×A***
22871996-CAAA-C 20710110-CAAA-C 15×A***
4377969-C-CTT 4509928-C-CTT 19×T***
9429480-TAAA-T 9591871-TAAA-T 18×A***
7194626-G-GTT 7326585-G-GTT 17×T***
22893365-CTTTC-C,CTTTT 20731479-CTTTC-C,CTTTT ***
22215217-CTT-C,CT 20053331-CTT-C,CT 17×T***
13478994-C-T 11323318-C-T ***
13455830-A-T 11300154-A-T ***
4392127-A-AT 4524086-A-AT 9×T***
16598984-CAA-C,CA 14487104-CAA-C,CA 25×A***
13576122-CTT-C,CT 11420446-CTT-C,CT 14×T***
5886217-C-T 6018176-C-T ***
17946919-GTTTTTT-G 15835039-GTTTTTT-G 24×T***
3176953-G-GTA 3308912-G-GTA ***
13455828-C-A 11300152-C-A ***
3742475-TTATA-T 3874434-TTATA-T ***
2724179-A-ATT 2856138-A-ATT 10×T***
4044022-AT-A 4175981-AT-A ***
4272990-AT-A 4404949-AT-A ***
4283882-T-C 4415841-T-C ***
5131049-T-C 5263008-T-C ***
5190501-T-C 5322460-T-C ***
5214560-A-G 5346519-A-G ***
8660550-C-CA,CAA 8792509-C-CA,CAA 18×A***
9525027-A-T 9687418-A-T ***
9910828-T-C 10073219-T-C ***
9910829-G-A 10073220-G-A ***
9910830-G-T 10073221-G-T ***
9910836-G-C 10073227-G-C ***
9910846-A-G 10073237-A-G ***
13484258-T-C 11328582-T-C ***
14203868-C-A 12083162-C-A ***
14753215-T-C 12641284-T-C ***
16431229-C-CAAA 14319349-C-CAAA 15×A***
16849859-A-G 14737979-A-G ***
18866043-A-G 16754163-A-G ***
19126302-T-C 17014422-T-C ***
22447356-G-C 20285470-G-C DYZ19 ***
23543041-T-C 21381155-T-C ***
28569988-A-T 26423841-A-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.