Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > Z39589

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 STRFGC
3333747-G-A 3465706-G-A FGC24286 +
4679104-C-T 4811063-C-T FGC24288 +
5387970-C-G 5519929-C-G FGC24289 +
5577226-C-A 5709185-C-A FGC24290 +
6414351-A-G 6546310-A-G FGC24291 +
7394904-C-G 7526863-C-G FGC24292 Y+
8274397-A-G 8406356-A-G FGC24293 YY+
8505239-T-C 8637198-T-C L1406 YY+
8678034-T-C 8809993-T-C FGC24294 YY+
9943259-C-T 10105650-C-T FGC24297 Y+
10082504-C-G 10244895-C-G FGC24298 +
13232365-C-G 11076689-C-G FGC24299 +
13716760-T-G 11561084-T-G FGC24300 +
14090334-G-T 11969628-G-T FGC24301 YY+
14578424-T-C 12466624-T-C FGC24302 YY+
15451440-T-A 13339560-T-A FGC24304 YY+
15546225-C-G 13434345-C-G FGC24305 YY+
16423485-G-A 14311605-G-A FGC24307 Y+
16678953-G-A 14567073-G-A FGC24309 YY+
16844536-G-T 14732656-G-T FGC24310 YY+
17220087-C-T 15108207-C-T FGC24311 Y+
17423470-T-C 15311590-T-C L526 YY+
17568697-G-A 15456817-G-A FGC24312 YY+
18060982-A-G 15949102-A-G FGC24313 YY+
18641510-C-A 16529630-C-A FGC24315 YY+
19377356-G-A 17265476-G-A FGC24316 YY+
20813081-G-T 18651195-G-T FGC24317 P4_Gap +
21441676-A-G 19279790-A-G FGC24318 YY+
21876765-T-C 19714879-T-C FGC24319 YY+
22271422-C-A 20109536-C-A FGC24320 DYZ19 +
22666749-G-C 20504863-G-C FGC24321 Y+
23758028-C-G 21596142-C-G FGC24322 Y+
15595252-AG-A 13483372-AG-A +
24380505-CT-C 22234358-CT-C +
3624356-G-A 3756315-G-A FGC24287 *
9091998-C-A 9254389-C-A FGC24295 Y*
9916034-G-A 10078425-G-A FGC24296 Y*
15157151-A-G 13045238-A-G FGC24303 YY*
15687479-G-T 13575599-G-T FGC24306 YY*
16670487-A-T 14558607-A-T FGC24308 YY*
18554020-A-T 16442140-A-T FGC24314 YY*
25688668-G-A 23542521-G-A FGC24323 P1_b3 *
15396465-TAA-T 13284585-TAA-T *
13283601-A-G 11127925-A-G **
13289774-A-G 11134098-A-G **
21732678-G-T 19570792-G-T **
13283696-C-T 11128020-C-T **
3942887-T-A 4074846-T-A **
4848553-G-C 4980512-G-C **
5537092-A-G 5669051-A-G **
5885114-C-T 6017073-C-T **
5977064-T-C 6109023-T-C **
6020680-T-A 6152639-T-A **
7451388-T-G 7583347-T-G IR1_L **
13285040-A-G 11129364-A-G A11862 **
13615996-G-A 11460320-G-A **
15475967-G-T 13364087-G-T **
16642010-G-T 14530130-G-T **
16964272-A-C 14852392-A-C BY50915 **
18850244-G-A 16738364-G-A A6465 **
21961282-G-T 19799396-G-T **
22131190-C-A 19969304-C-A **
22366303-T-A 20204417-T-A DYZ19 **
22527713-T-G 20365827-T-G **
25024349-T-C 22878202-T-C g1 **
13282007-T-TC 11126331-T-TC **
9928940-ACAC-A 10091331-ACAC-A **
9519800-CTTTCTT-C 9682191-CTTTCTT-C **
13301571-AT-A 11145895-AT-A 10×T**
22505086-A-T 20343200-A-T DYZ19 ***
22505044-GCCTT-ACCTC 20343158-GCCTT-ACCTC DYZ19 ***
22504857-G-T 20342971-G-T DYZ19 ***
9094831-T-C 9257222-T-C DC362A7179 DC362 ***
9522033-T-C 9684424-T-C ***
26386507-G-A 24240360-G-A P1_Y1 ***
13255204-G-A 11099528-G-A ***
13255216-C-T 11099540-C-T ***
13510943-T-C 11355267-T-C ***
13284919-A-G 11129243-A-G ***
16545644-A-T 14433764-A-T ***
13122177-G-T 10611663-G-T ***
18454881-C-T 16343001-C-T P6_Dst ***
19143143-G-T 17031263-G-T ***
13286614-C-T 11130938-C-T ***
13385752-T-G 11230076-T-G ***
10020674-A-G 10183065-A-G ***
58853194-A-T 56737677-T-A ***
2783705-G-A 2915664-G-A ***
2783715-T-A 2915674-T-A ***
2909278-G-T 3041237-G-T ***
2930054-G-T 3062013-G-T ***
2974886-G-A 3106845-G-A ***
3036340-G-T 3168299-G-T ***
3036358-G-A 3168317-G-A ***
3271523-A-T 3403482-A-T ***
3314370-C-T 3446329-C-T A3657 ***
3385532-C-T 3517491-C-T ***
3709219-C-T 3841178-C-T ***
3846997-G-T 3978956-G-T ***
3853790-C-A 3985749-C-A ***
3889999-G-T 4021958-G-T ***
3890014-G-T 4021973-G-T ***
3916942-A-C 4048901-A-C ***
3922475-G-T 4054434-G-T ***
4037358-G-T 4169317-G-T ***
4408209-G-A 4540168-G-A ***
4581693-G-T 4713652-G-T ***
4598072-G-A 4730031-G-A FT206386 ***
4663235-C-T 4795194-C-T ***
4663256-G-T 4795215-G-T ***
4848577-T-C 4980536-T-C ***
4964099-G-C 5096058-G-C ***
4965027-T-G 5096986-T-G ***
5241091-T-C 5373050-T-C ***
5336710-G-T 5468669-G-T ***
5350103-C-T 5482062-C-T ***
5400507-A-G 5532466-A-G ***
5447902-G-A 5579861-G-A ***
5652196-T-G 5784155-T-G ***
5720930-G-T 5852889-G-T ***
5923482-G-T 6055441-G-T ***
6127292-G-T 6259251-G-T ***
6264151-G-A 6396110-G-A IR3_Dst ***
6293255-A-C 6425214-A-C IR3_Dst ***
6381217-T-A 6513176-T-A ***
6523310-A-T 6655269-A-T ***
6523322-G-A 6655281-G-A ***
6539063-A-G 6671022-A-G ***
6874086-G-T 7006045-G-T ***
8779535-T-C 8911494-T-C ***
9404608-G-T 9566999-G-T ***
9420100-T-A 9582491-T-A ***
9420112-G-T 9582503-G-T ***
9654394-G-A 9816785-G-A IR3_Prx ***
9654410-G-A 9816801-G-A IR3_Prx ***
9836952-C-T 9999343-C-T ***
10026775-T-C 10189166-T-C ***
13289791-G-A 11134115-G-A 8×A***
13289813-T-A 11134137-T-A ***
13291789-A-C 11136113-A-C ***
13353756-T-C 11198080-T-C A3797 ***
13385674-T-A 11229998-T-A ***
13701971-C-A 11546295-C-A ***
13740966-A-T 11585290-A-T ***
14959560-A-C 12847635-A-C ***
15253059-C-T 13141145-C-T BY206932 ***
16336625-A-G 14224745-A-G ***
16612589-A-C 14500709-A-C ***
16743082-G-T 14631202-G-T ***
16849841-G-A 14737961-G-A ***
17030655-G-T 14918775-G-T ***
17250030-T-A 15138150-T-A ***
17265021-A-C 15153141-A-C A10407 ***
17283141-G-C 15171261-G-C ***
17283151-C-A 15171271-C-A ***
17459495-A-C 15347615-A-C ***
17791329-C-T 15679449-C-T ***
17994649-C-A 15882769-C-A P7_Prx ***
18008888-G-A 15897008-G-A P7_Dst ***
18008975-C-T 15897095-C-T P7_Dst ***
18082972-C-A 15971092-C-A ***
18082996-C-A 15971116-C-A Y73015 ***
18082998-C-A 15971118-C-A 10×A***
18106375-G-A 15994495-G-A ***
18278163-C-A 16166283-C-A P6_Prx ***
18517437-T-C 16405557-T-C P6_Dst ***
18531189-G-C 16419309-G-C P6_Dst ***
18596015-G-T 16484135-G-T ***
18615997-G-T 16504117-G-T ***
18687641-C-T 16575761-C-T ***
18744169-G-T 16632289-G-T ***
18890400-T-A 16778520-T-A ***
18972035-A-G 16860155-A-G ***
19121886-A-T 17010006-A-T ***
19121890-A-T 17010010-A-T ***
19121899-A-T 17010019-A-T 8×T***
19173664-G-T 17061784-G-T ***
19187423-G-C 17075543-G-C ***
19339971-T-C 17228091-T-C ***
19345128-T-A 17233248-T-A 18×A***
19488980-C-A 17377100-C-A ***
19500653-A-C 17388773-A-C FGC19967 Y6164 ***
19803584-T-C 17691704-T-C P5_Prx ***
20066065-T-C 17954185-T-C P5_Gap ***
20066877-T-A 17954997-T-A P5_Dst ***
20333803-G-A 18171917-G-A P5_Dst ***
20333830-G-A 18171944-G-A P5_Dst ***
20355129-C-A 18193243-C-A P5_Dst ***
20420642-C-G 18258756-C-G P5_Dst ***
20438861-G-C 18276975-G-C P5_Dst ***
20871509-T-C 18709623-T-C P4_Dst ***
21362984-T-A 19201098-T-A A10936 ***
21412247-A-T 19250361-A-T ***
21435142-G-A 19273256-G-A ***
21510404-A-T 19348518-A-T ***
21527494-A-T 19365608-A-T ***
21726008-G-A 19564122-G-A ***
21935010-C-T 19773124-C-T ***
22173953-G-A 20012067-G-A ***
22213987-G-T 20052101-G-T ***
22214014-A-T 20052128-A-T ***
22237046-G-T 20075160-G-T DYZ19 ***
22237047-G-T 20075161-G-T DYZ19 ***
22237063-T-C 20075177-T-C DYZ19 ***
22237119-G-T 20075233-G-T DYZ19 ***
22237131-A-T 20075245-A-T DYZ19 ***
22237135-A-T 20075249-A-T DYZ19 ***
22237142-A-C 20075256-A-C DYZ19 ***
22237149-A-G 20075263-A-G DYZ19 ***
22237161-C-T 20075275-C-T DYZ19 ***
22253044-T-C 20091158-T-C DYZ19 ***
22423930-G-C 20262044-G-C DYZ19 ***
22502597-T-C 20340711-T-C DYZ19 ***
22503118-G-T 20341232-G-T DYZ19 ***
22503129-G-C 20341243-G-C DYZ19 ***
22503228-G-T 20341342-G-T DYZ19 ***
22503254-G-C 20341368-G-C DYZ19 ***
22504843-G-C 20342957-G-C DYZ19 ***
22579992-A-T 20418106-A-T ***
22634818-G-T 20472932-G-T ***
23537546-C-A 21375660-C-A A13311 ***
24126593-T-A 21980446-T-A P3_b1 ***
24167156-A-C 22021009-A-C P3_b1 ***
24189054-G-C 22042907-G-C P3_b1 ***
24222790-T-C 22076643-T-C P3_b1 ***
24264574-T-C 22118427-T-C P3_b1 ***
24264579-G-A 22118432-G-A P3_b1 ***
24264586-G-T 22118439-G-T P3_b1 ***
24274026-T-A 22127879-T-A P3_b1 ***
24600565-C-T 22454418-C-T P3_t2 ***
24600575-A-T 22454428-A-T P3_t2 ***
24600598-C-T 22454451-C-T P3_t2 ***
24711165-A-C 22565018-A-C P3_b2 ***
24747637-T-A 22601490-T-A P3_b2 ***
24747639-C-T 22601492-C-T P3_b2 ***
24747649-A-G 22601502-A-G P3_b2 ***
24751278-C-T 22605131-C-T P3_b2 ***
24869396-G-A 22723249-G-A IR1_R ***
24919299-G-T 22773152-G-T g1 ***
25079997-G-A 22933850-G-A g1 ***
25080253-C-A 22934106-C-A g1 ***
25106537-A-T 22960390-A-T g1 ***
25106569-A-C 22960422-A-C g1 ***
25246553-A-C 23100406-A-C P2_r1 ***
25246626-A-C 23100479-A-C P2_r1 ***
25273885-G-T 23127738-G-T P2_r1 ***
25309815-C-T 23163668-C-T P2_r1 ***
25356594-C-T 23210447-C-T P2_r2 ***
25531152-C-A 23385005-C-A P1_gr1 ***
25606462-C-A 23460315-C-A P1_gr1 ***
25688773-T-G 23542626-T-G P1_b3 ***
25964059-T-C 23817912-T-C P1_Y1 ***
26089808-C-T 23943661-C-T P1_Y1 ***
26215133-T-A 24068986-T-A P1_Y1 ***
26270284-G-T 24124137-G-T P1_Y1 ***
26276032-G-T 24129885-G-T P1_Y1 ***
26386550-C-T 24240403-C-T P1_Y1 ***
26433572-C-T 24287425-C-T P1_Y1 19×T***
26455998-A-T 24309851-A-T P1_Y1 ***
26479608-C-T 24333461-C-T P1_Y1 ***
26479615-T-C 24333468-T-C P1_Y1 ***
26488391-G-A 24342244-G-A P1_Y1 ***
26574613-C-T 24428466-C-T P1_g2 ***
26834580-G-A 24688433-G-A P1_g2 ***
27095964-A-T 24949817-A-T P1_r4 ***
27151303-A-C 25005156-A-C A3600 P1_g3 25×T***
27151379-A-T 25005232-A-T P1_g3 ***
27161975-T-A 25015828-T-A P1_g3 ***
27161976-C-T 25015829-C-T P1_g3 ***
27161988-A-C 25015841-A-C P1_g3 ***
27162016-G-A 25015869-G-A P1_g3 ***
27224051-A-G 25077904-A-G P1_g3 ***
27398155-G-C 25252008-G-C P1_g3 ***
27398408-T-A 25252261-T-A P1_g3 ***
27398554-G-A 25252407-G-A P1_g3 ***
27506470-T-A 25360323-T-A P1_Y2 ***
27681386-A-C 25535239-A-C P1_Y2 ***
27691887-T-G 25545740-T-G P1_Y2 ***
27699878-G-A 25553731-G-A P1_Y2 ***
27712299-T-G 25566152-T-G P1_Y2 ***
27714959-T-A 25568812-T-A P1_Y2 ***
27757708-T-A 25611561-T-A P1_Y2 8×A***
27829137-A-T 25682990-A-T P1_Y2 ***
27829139-A-T 25682992-A-T P1_Y2 ***
27839383-A-T 25693236-A-T P1_Y2 ***
27840156-T-A 25694009-T-A P1_Y2 ***
27883313-T-A 25737166-T-A P1_Y2 ***
28454651-T-C 26308504-T-C P1_gr2 ***
28454875-A-T 26308728-A-T P1_gr2 ***
28454879-A-T 26308732-A-T P1_gr2 ***
28477994-A-G 26331847-A-G ***
58823327-C-A 56767544-G-T ***
58831898-G-T 56758973-C-A ***
58852972-G-T 56737899-C-A ***
58863582-C-T 56727289-G-A ***
58863587-C-A 56727284-G-T ***
58875377-T-C 56715494-A-G ***
58887509-C-T 56703362-G-A ***
58887515-C-T 56703356-G-A ***
58889081-G-C 56701790-C-G ***
58892059-T-G 56698812-A-C ***
3314369-AC-GT 3446328-AC-GT ***
9928942-AC-A 10091333-AC-A ***
10020698-GTC-TTG 10183089-GTC-TTG ***
13252573-TC-GT 11096897-TC-GT ***
13253999-GTTGTTTTTT-G 11098323-GTTGTTTTTT-G ***
13266556-TGTTC-GGTTT 11110880-TGTTC-GGTTT ***
13272065-AGA-GGC 11116389-AGA-GGC ***
13280363-AT-A 11124687-AT-A ***
13353698-CA-C 11198022-CA-C ***
13722877-AGAATG-A 11567201-AGAATG-A 10×GAATG***
13734111-GGAAT-AGAAA 11578435-GGAAT-AGAAA ***
13740650-CTGG-ATGA 11584974-CTGG-ATGA ***
13740678-GAC-CAT 11585002-GAC-CAT ***
13740929-AA-CC 11585253-AA-CC ***
13869670-AAAT-GAAC 11748964-AAAT-GAAC ***
15477290-TC-AA 13365410-TC-AA ***
15799140-CTTCCT-C 13687260-CTTCCT-C ***
16370646-TAC-AAA 14258766-TAC-AAA ***
19514895-GAA-CAG 17403015-GAA-CAG ***
22359341-CTG-GTA 20197455-CTG-GTA DYZ19 ***
23437960-T-TTC 21276074-T-TTC ***

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.