Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > Z195/S355 > Z272 > S450 > Z295/S1217 > S25783 > CTS4065 > FGC34881

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
N137161
BigY2
N137161
6151332-C-G 6283291-C-G IR3_Dst ***A*
6285063-T-C 6417022-T-C IR3_Dst ***A*
19698001-A-G 17586121-A-G P5_Prx ***A*
22264810-A-C 20102924-A-C DYZ19 ***A*
24346927-A-G 22200780-A-G P3_t1 ***A*
25973801-C-G 23827654-C-G P1_Y1 ***A*
25976922-C-T 23830775-C-T P1_Y1 ***A*
26231062-G-A 24084915-G-A P1_Y1 ***A*
28816989-T-A 26670842-T-A A*
15226358-GA-G 13114444-GA-G ++
14435875-A-T 12315148-A-T S1256 Y++
6769136-G-A 6901095-G-A F15316 YY++
13811241-A-G 11690535-A-G BY90242 ***+
18892377-C-T 16780497-C-T CTS9434 YY+**
22113142-C-T 19951256-C-T BY19811 FGC70544 YY++
2833670-A-G 2965629-A-G Y60353 YY++
7993842-T-C 8125801-T-C Y62946 YY++
8187083-C-G 8319042-C-G Y63247 YY++
8562640-G-T 8694599-G-T Y64083 YY++
9376530-C-G 9538921-C-G Y+**
9876310-C-A 10038701-C-A Y65349 YY++
9883963-C-T 10046354-C-T Y65356 YY++
14853744-A-G 12741810-A-G Y67335 YY++
14920847-G-A 12808912-G-A Y67445 YY++
15208837-C-G 13096923-C-G Y67873 YY+**
15409503-G-A 13297623-G-A Y68183 YY++
15600655-TG-T 13488775-TG-T ++
15941741-T-A 13829861-T-A Y69147 YY++
16452838-G-C 14340958-G-C Y69932 YY++
16638308-A-C 14526428-A-C Y70259 YY++
16809777-G-A 14697897-G-A Y70530 YY++
18016808-A-C 15904928-A-C Y72828 P7_Dst Y++
18090670-T-C 15978790-T-C Y73037 YY++
18553410-T-C 16441530-T-C Y73609 Y++
19154181-G-A 17042301-G-A Y74767 YY++
21319186-T-G 19157300-T-G Y76237 YY++
21987486-A-G 19825600-A-G Y77529 YY++
22293611-G-T 20131725-G-T BY52384 DYZ19 ***+
23089231-C-T 20927345-C-T Y79236 YY++
23444366-C-A 21282480-C-A Y79880 YY++
23867496-A-G 21705610-A-G BY148587 Y++
24001557-G-A 21855410-G-A FGC70932 Y++
24069698-C-T 21923551-C-T P3_b1 +
28802317-A-C 26656170-A-C Y81118 ++
14170617-TA-T 12049911-TA-T 8×A+
22269370-T-A 20107484-T-A BY214853 DYZ19 ****
22278360-A-C 20116474-A-C DYZ19 ****
25955714-C-T 23809567-C-T P1_Y1 ****
28807358-G-A 26661211-G-A *
18040339-GT-G 15928459-GT-G 8×T**
7084535-A-G 7216494-A-G CTS916 Z2133 ****
10055026-G-A 10217417-G-A FT426959 **
9735605-G-GTT 9897996-G-GTT IR3_Prx 30×T**
4428231-A-G 4560190-A-G **
28542433-AG-A 26396286-AG-A **
22485934-G-T 20324048-G-T DYZ19 **
58998097-A-G 56851950-A-G **
15622664-C-A 13510784-C-A **
19049470-AAATAATAAT-A 16937590-AAATAATAAT-A 12×AAT**
22317997-T-G 20156111-T-G DYZ19 **
10807182-TTGTTCCCTTC-T **
10844432-G-A **
10849196-TATTCC-T **
6582770-C-A 6714729-C-A **
17285048-A-C 15173168-A-C **
10770689-A-ACTCCTAAACT **
10770704-G-T **
10770729-A-T **
10770731-TCCTTTTC-T **
10770742-AAC-A **
10770753-T-A **
10770773-A-T **
15658086-G-GTA 13546206-G-GTA **
18191973-G-T 16080093-G-T FT134471 **
10934905-T-C **
2845808-C-A 2977767-C-A **
11022452-C-A **
16172208-C-A 14060328-C-A **
4957702-C-A 5089661-C-A **
16305793-C-T 14193913-C-T **
16305817-T-C 14193937-T-C **
19775302-CT-C 17663422-CT-C P5_Prx 32×T**
13487739-T-TAG 11332063-T-TAG **
10782788-C-A **
7363155-T-A 7495114-T-A **
10684004-TATTCC-T **
10766706-C-A **
13997771-CTTTT-C 11877065-CTTTT-C 17×T**
15127827-A-T 13015914-A-T **
6336365-G-T 6468324-G-T IR3_Dst **
4160439-C-A 4292398-C-A **
5191314-C-A 5323273-C-A **
11022033-C-CTGCAT **
14500226-T-TA 12388431-T-TA 9×A**
19775356-A-C 17663476-A-C P5_Prx **
10772607-G-T **
16305818-G-A 14193938-G-A **
4416645-A-G 4548604-A-G **
19200940-CAGAGAG-C 17089060-CAGAGAG-C 10×AG**
17569226-GAAAAAAA-G 15457346-GAAAAAAA-G 25×A**
10842468-G-T **
14911978-C-A 12800045-C-A **
18951355-C-A 16839475-C-A **
8052650-C-A 8184609-C-A **
9996448-C-T 10158839-C-T **
14537906-C-A 12426107-C-A **
3544371-C-A 3676330-C-A **
10802842-T-A **
22836735-C-A 20674849-C-A **
23185980-CTTT-C 21024094-CTTT-C 13×T**
18565316-C-A 16453436-C-A **
21375683-C-A 19213797-C-A **
10977183-T-C **
2790303-CTTTTT-C 2922262-CTTTTT-C 15×T**
10671682-G-T **
15468427-C-A 13356547-C-A **
10987554-C-A **
7360380-C-A 7492339-C-A **
3272003-C-A 3403962-C-A **
4063417-C-A 4195376-C-A **
5274886-G-T 5406845-G-T **
2683223-T-A 2815182-T-A **
2693339-T-C 2825298-T-C **
2817076-G-C 2949035-G-C **
3123151-C-A 3255110-C-A **
3165038-T-C 3296997-T-C **
3283049-G-T 3415008-G-T **
3283285-C-T 3415244-C-T **
3541497-T-G 3673456-T-G **
3559722-C-A 3691681-C-A **
3599001-T-A 3730960-T-A **
3807656-C-A 3939615-C-A **
3890377-T-G 4022336-T-G **
4079608-G-T 4211567-G-T **
4079654-T-A 4211613-T-A **
4165159-A-G 4297118-A-G FTA42608 **
4300855-AT-A 4432814-AT-A **
4364686-G-A 4496645-G-A FT228141 **
4366481-CG-C 4498440-CG-C **
4503260-G-T 4635219-G-T **
4521444-C-T 4653403-C-T **
4521610-TC-T 4653569-TC-T **
4537836-A-T 4669795-A-T **
4537854-A-C 4669813-A-C **
4553944-A-T 4685903-A-T **
4567172-C-A 4699131-C-A **
4601543-T-G 4733502-T-G **
4696372-G-T 4828331-G-T **
4958756-T-C 5090715-T-C **
4994018-G-T 5125977-G-T **
5032223-A-C 5164182-A-C **
5096841-AT-A 5228800-AT-A **
5170052-C-T 5302011-C-T **
5241759-TTATA-T 5373718-TTATA-T **
5289896-TC-T 5421855-TC-T **
5309523-G-T 5441482-G-T **
5398970-TG-T 5530929-TG-T **
5399581-T-A 5531540-T-A **
5470705-C-CT 5602664-C-CT 9×T**
5577530-C-T 5709489-C-T **
5584640-G-T 5716599-G-T **
5600610-G-GT 5732569-G-GT **
5706104-G-T 5838063-G-T **
5805488-C-A 5937447-C-A **
5829566-T-C 5961525-T-C **
5858492-T-A 5990451-T-A **
5864793-C-A 5996752-C-A **
5937276-A-T 6069235-A-T **
6049453-C-A 6181412-C-A **
6228199-AT-A 6360158-AT-A IR3_Dst **
6336646-G-T 6468605-G-T IR3_Dst **
6495046-T-C 6627005-T-C **
6507883-T-C 6639842-T-C **
6784394-A-G 6916353-A-G **
6790291-A-G 6922250-A-G **
6798814-G-A 6930773-G-A **
7081399-G-T 7213358-G-T **
7158113-G-A 7290072-G-A **
7214346-T-A 7346305-T-A **
7535986-T-A 7667945-T-A **
7535998-C-G 7667957-C-G **
7536000-G-A 7667959-G-A **
7536009-C-G 7667968-C-G **
7536022-G-A 7667981-G-A **
7536049-A-C 7668008-A-C **
7754919-T-A 7886878-T-A **
7764557-A-AT 7896516-A-AT **
7985918-G-T 8117877-G-T **
7991017-C-T 8122976-C-T **
7996114-C-A 8128073-C-A **
8092154-T-A 8224113-T-A **
8092157-T-G 8224116-T-G **
8092165-GTA-G 8224124-GTA-G **
8170394-C-T 8302353-C-T FT300355 **
8856802-A-G 8988761-A-G **
9056303-C-A **
8986984-C-CA 9149375-C-CA **
9885241-G-A 10047632-G-A **
9926723-TC-T 10089114-TC-T **
9940599-A-C 10102990-A-C **
9953306-G-A 10115697-G-A **
9962384-C-A 10124775-C-A **
10005922-A-T 10168313-A-T **
10659463-C-A **
10752455-A-T **
10755872-C-A **
10756116-C-A **
10785541-G-T **
10786812-C-A **
10796212-C-T **
10801128-G-A **
10802704-C-A **
10830410-C-A **
10841847-T-C **
10851615-C-A **
10856899-T-C **
10873861-G-T **
10882793-C-A **
10883336-G-A FT435423 **
10894127-T-C **
10905906-C-A **
10905952-A-G **
10915906-T-C **
10937631-TCTCCA-T **
10941955-CT-C **
10960659-T-C **
10962988-C-A FT438378 **
10967806-T-C **
10977181-T-C **
10977184-G-A **
10979269-T-C **
10988194-A-C **
11010298-C-A **
13226063-G-A 11070387-G-A BY153298 **
13227968-T-C 11072292-T-C **
13323327-A-G 11167651-A-G **
13323328-T-C 11167652-T-C **
13336126-C-A 11180450-C-A **
13406484-T-C 11250808-T-C **
13573195-A-T 11417519-A-T **
13573209-C-A 11417533-C-A **
11663701-C-A **
11663775-C-T **
11677849-A-T **
13932769-T-C 11812063-T-C **
13995875-C-A 11875169-C-A **
13999451-G-T 11878745-G-T **
13999933-A-G 11879227-A-G **
14007536-C-A 11886830-C-A **
14011336-G-T 11890630-G-T **
14032556-C-G 11911850-C-G **
14067917-C-A 11947211-C-A **
14093495-C-A 11972789-C-A **
14160400-A-G 12039694-A-G **
14192884-C-A 12072178-C-A **
14225696-A-G 12104990-A-G **
14294142-G-A 12173436-G-A **
14299827-T-C 12179121-T-C **
14343919-C-A 12223214-C-A **
14447351-C-A 12326624-C-A **
14473654-A-T 12352923-A-T **
14561362-C-A 12449563-C-A **
14721683-A-G 12609751-A-G **
14779575-G-A 12667645-G-A **
15157779-C-T 13045866-C-T **
15171275-C-A 13059361-C-A **
15221077-C-A 13109163-C-A **
15321399-C-A 13209517-C-A **
15648767-A-G 13536887-A-G **
15774327-T-A 13662447-T-A **
15855753-C-G 13743873-C-G **
15912090-G-T 13800210-G-T **
15941627-C-G 13829747-C-G Y69146 **
16002118-T-C 13890238-T-C **
16015053-C-A 13903173-C-A **
16063483-C-T 13951603-C-T **
16176998-CAA-C 14065118-CAA-C 9×A**
16277705-C-A 14165825-C-A **
16305758-T-A 14193878-T-A **
16305801-T-G 14193921-T-G **
16427577-C-A 14315697-C-A **
16430181-T-C 14318301-T-C **
16536146-C-A 14424266-C-A **
16619991-C-T 14508111-C-T **
16676627-A-T 14564747-A-T **
16706582-T-A 14594702-T-A **
16707753-T-A 14595873-T-A **
17004465-CA-C 14892585-CA-C **
17090645-C-A 14978765-C-A FTA16504 **
17538203-G-A 15426323-G-A **
17802083-C-A 15690203-C-A **
17950776-A-C 15838896-A-C **
18090158-G-T 15978278-G-T FT408533 **
18174851-T-C 16062971-T-C **
18381811-C-T 16269931-C-T P6_Gap **
18407069-C-A 16295189-C-A P6_Gap **
18543476-A-G 16431596-A-G **
18874019-C-T 16762139-C-T **
19020147-T-C 16908267-T-C **
19206667-A-G 17094787-A-G **
19298004-G-A 17186124-G-A **
19310874-A-T 17198994-A-T **
19379621-C-A 17267741-C-A **
19557307-C-A 17445427-C-A **
19744939-T-A 17633059-T-A P5_Prx **
21269201-T-A 19107315-T-A **
21482793-A-T 19320907-A-T Y33838 **
21586321-G-A 19424435-G-A **
21589426-C-T 19427540-C-T **
21678123-GA-G 19516237-GA-G 8×A**
21703271-C-A 19541385-C-A **
21856532-A-G 19694646-A-G **
21958870-C-A 19796984-C-A FT285982FT286907 **
22114738-A-T 19952852-A-T **
22193251-G-T 20031365-G-T **
23434480-T-A 21272594-T-A Y79867 **
23837707-G-T 21675821-G-T **
23837795-T-A 21675909-T-A **
21755782-A-T **
24283315-A-C 22137168-A-C P3_t1 **
24403419-T-C 22257272-T-C **
24447070-AAGAG-A 22300923-AAGAG-A 9×AG**
28429426-A-G 26283279-A-G P1_gr2 **
28545007-C-A 26398860-C-A **
28635453-C-A 26489306-C-A **
28763292-T-C 26617145-T-C **
56839913-G-T **
56843150-C-A **
56844143-C-A **
58844820-G-C 56746051-C-G ***
13459032-GTTCCATTCCA-G 11303356-GTTCCATTCCA-G 7×TTCCA******
13143380-G-A 10632866-G-A ***
16608050-A-AT 14496170-A-AT 9×T***
7485704-G-C 7617663-G-C IR1_L ***
13143350-T-A 10632836-T-A ***
13143403-C-T 10632889-C-T ***
22251436-G-A 20089550-G-A DYZ19 ***
22303822-G-A 20141936-G-A DYZ19 ******
22435996-G-T 20274110-G-T DYZ19 ***
25290213-C-G 23144066-C-G P2_r1 ***
21667323-AT-A 19505437-AT-A 10×T***
58996217-G-A 56850070-G-A ***
13565935-C-A 11410259-C-A ***
13461014-G-C 11305338-G-C A12992 ***
10942768-C-T ***
16016721-TACACAC-T,TAC 13904841-TACACAC-T,TAC 17×AC***
15336700-T-C 13224818-T-C ***
10892413-C-A ***
15928018-C-A 13816138-C-A BY104943 ***
23650038-GTT-G 21488152-GTT-G 15×T***
6807716-C-T 6939675-C-T 14×T***
56830242-CCATTG-C ***
10929567-C-A ***
14916890-CAAAA-C,CAAA 12804957-CAAAA-C,CAAA 15×A***
3833652-CAAA-C,CAAAA 3965611-CAAA-C,CAAAA 16×A***
6090764-A-AT,ATT 6222723-A-AT,ATT 11×T***
6855340-T-TC 6987299-T-TC ***
7348446-G-T 7480405-G-T ***
9424598-GAAA-G,GAAAA 9586989-GAAA-G,GAAAA 16×A***
10693272-G-T ***
10755261-C-A ***
10767651-T-A,C ***
10769933-C-A ***
10828135-A-ACCAGT ***
10828191-G-T ***
10842482-G-A ***
10935587-C-A,T ***
15909754-CATATATATATATAT-C,CATATATATATATATAT 13797874-CATATATATATATAT-C,CATATATATATATATAT 18×AT***
16834564-G-A 14722684-G-A ***
16834572-C-T 14722692-C-T ***
16964275-AC-AA,C 14852395-AC-AA,C ***
18106353-GTT-G,GTTT 15994473-GTT-G,GTTT 15×T***
18775551-AT-A 16663671-AT-A 9×T***
21365439-AG-AA,G 19203553-AG-AA,G ***
22485951-G-C 20324065-G-C DYZ19 ***
56861852-C-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. '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.