Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > ZZ12 > Z46512 > FGC78762 > ZZ19 > Z31644 > Z42772 > 8742535-G-GT > A431 > BY19161 > BY164509 > BY166389

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 STRKane-BY3
547610
13203980-TC-T 11048304-TC-T +
3052909-G-A 3184868-G-A +
5153342-C-T 5285301-C-T +
13203971-C-T 11048295-C-T +
13203972-ACCCCGCC-A 11048296-ACCCCGCC-A +
18588553-A-T 16476673-A-T YY+
23695834-T-TGCCCCCCCC 21533948-T-TGCCCCCCCC +
13273545-C-T 11117869-C-T *
13411739-C-T 11256063-C-T *
25508362-T-C 23362215-T-C P1_gr1 *
9964126-A-G 10126517-A-G Y*
13858510-AAATGGAATGG-A,AAATGG 11737804-AAATGGAATGG-A,AAATGG 15×AATGG*
4009318-T-C 4141277-T-C *
10037905-T-C 10200296-T-C *
16406853-ATTTTT-A,ATTTT 14294973-ATTTTT-A,ATTTT 20×T*
13478362-G-A 11322686-G-A *
4268175-C-T 4400134-C-T *
13398353-C-T 11242677-C-T *
9941973-C-T 10104364-C-T Y*
56859243-T-G *
13734138-AATTGAATGTC-A 11578462-AATTGAATGTC-A *
13269581-ACAAAAAC-A 11113905-ACAAAAAC-A *
13479042-G-C 11323366-G-C *
13444778-A-T 11289102-A-T *
13199164-CA-C,CAA 11043488-CA-C,CAA 18×A*
4151936-CAA-C,CA 4283895-CAA-C,CA 17×A*
5574077-CTTT-C,CTTTT 5706036-CTTT-C,CTTTT 19×T*
19042179-CAAA-C,CAA 16930299-CAAA-C,CAA 17×A*
13489790-G-T 11334114-G-T *
13489641-C-CA 11333965-C-CA *
13489643-C-CCAA 11333967-C-CCAA *
13563623-C-T 11407947-C-T *
13251792-CAGAT-C 11096116-CAGAT-C *
56833303-T-C,TTCCATGCCATTCCATTCCACTCCAC *
4009313-AG-A 4141272-AG-A *
4258275-A-G 4390234-A-G *
5022849-GA-G 5154808-GA-G *
5828966-AACACACACACAC-A,AACACACAC 5960925-AACACACACACAC-A,AACACACAC 22×AC*
9941951-C-T 10104342-C-T Y*
9941954-T-A 10104345-T-A Y*
10014055-A-C 10176446-A-C Y*
10014056-TAAAA-T 10176447-TAAAA-T *
10014060-A-ACCCC 10176451-A-ACCCC *
10648069-CTCCAT-C,CTCCATTCCAT *
10679708-T-TCAGAAGATCTCACTCTGTCACTCAGGTTGGAGTGCAGTCGCATAATCTCAGCTCACATTACA *
10693336-CG-C *
10795051-G-GCATTCCATTC,GCATTCCATTC *
10798311-AATTCC-A,A *
13263568-A-T 11107892-A-T *
13286707-A-G 11131031-A-G *
13372575-G-T 11216899-G-T *
13447152-CATTCT-C,TATTCT 11291476-CATTCT-C,TATTCT *
13489104-C-A 11333428-C-A *
13489437-C-G 11333761-C-G *
13636806-T-C 11481130-T-C *
14458558-CAAA-C,CAA 12337831-CAAA-C,CAA 21×A*
18255888-TAAAA-T,TAAAAA 16144008-TAAAA-T,TAAAAA 22×A*
22772814-T-TA,TAA 20610928-T-TA,TAA 9×A*
56831825-TTGCATTGCA-T *
56831838-TATTCCA-T *
56831923-G-C,GGCTCC *
56851299-A-ATGACATATCTCTGCACTGATCACCCCAGGGAGAGAATTCTTGTTTAGGTTCTGCCTACAGGGGGCTTTG *
56866231-G-T *
22459136-C-A 20297250-C-A BY25002 DYZ19 **
22459161-C-T 20297275-C-T FT457458 DYZ19 **
22459165-G-T 20297279-G-T DYZ19 **
22459167-T-G 20297281-T-G DYZ19 **
19048371-C-A 16936491-C-A BY44372 **
13469074-G-C 11313398-G-C **
10914546-G-C **
10914518-C-T **
13468081-T-A 11312405-T-A **
10914558-C-T **
3501955-CAAAAA-C 3633914-CAAAAA-C 22×A**
10914483-A-C **
10914608-A-T **
13461098-T-C 11305422-T-C **
22459160-C-T 20297274-C-T DYZ19 **
2933969-C-A 3065928-C-A ***
4317155-C-T 4449114-C-T ***
9968209-GAT-G 10130600-GAT-G ***
13288865-C-T 11133189-C-T ***
22863973-TAC-T 20702087-TAC-T ***
58968239-T-TATATAG 56822092-T-TATATAG ***
59002761-A-C 56856614-A-C ***
4036616-C-T 4168575-C-T ***
4867692-A-C 4999651-A-C ***
5096711-G-A 5228670-G-A FGC37897 ***
7307627-AAT-A 7439586-AAT-A ***
7325111-TTA-T 7457070-TTA-T ***
7643314-CAG-C 7775273-CAG-C ***
10004885-A-G 10167276-A-G FGC60878 ***
13243576-G-A 11087900-G-A ***
16365111-GTA-G 14253231-GTA-G ***
16385638-TTA-T 14273758-TTA-T ***
24168547-CAAT-C 22022400-CAAT-C P3_b1 11×AAT***
24425365-A-ATG 22279218-A-ATG 8×TG***
14794032-GT-G 12682103-GT-G 9×T***
23432230-GA-G 21270344-GA-G 10×A***
13595450-T-A 11439774-T-A ***
2724179-AT-A 2856138-AT-A 10×T***
13404442-C-A 11248766-C-A ***
4491023-T-C 4622982-T-C ***
9355873-T-A 9518264-T-A ***
8109789-GTTA-G 8241748-GTTA-G 7×TTA***
6792628-CAAAAA-C,CAAAA 6924587-CAAAAA-C,CAAAA 18×A***
13485659-G-A 11329983-G-A ***
15605218-ATT-A 13493338-ATT-A 13×T***
13442783-A-G 11287107-A-G ***
3615472-GAA-G 3747431-GAA-G 14×A***
4765721-A-AT 4897680-A-AT 10×T***
56850810-T-A ***
16913280-G-GTT 14801400-G-GTT 10×T***
13485621-T-A 11329945-T-A ***
22996005-T-A 20834119-T-A ***
19044813-T-TA 16932933-T-TA 9×A***
5400695-G-GT 5532654-G-GT 9×T***
2810617-C-CT 2942576-C-CT 10×T***
15949839-AT-A 13837959-AT-A 10×T***
17030992-CA-C,CAA 14919112-CA-C,CAA 19×A***
13398319-C-A 11242643-C-A ***
4273491-AT-A 4405450-AT-A 9×T***
3283471-G-A 3415430-G-A ***
5260032-G-A 5391991-G-A ***
13354872-AC-A 11199196-AC-A ***
21152512-C-CTT 18990626-C-CTT 14×T***
5081898-T-C 5213857-T-C ***
13488702-T-C 11333026-T-C ***
5091106-CA-C 5223065-CA-C 9×A***
17797622-GA-G 15685742-GA-G 10×A***
3788963-A-AT 3920922-A-AT 10×T***
2962340-C-T 3094299-C-T ***
13531498-GA-G 11375822-GA-G 10×A***
6863818-CTTTT-C,CTTT 6995777-CTTTT-C,CTTT 21×T***
13465039-T-G 11309363-T-G ***
58905216-C-A 56685655-G-T ***
21687985-CAGAGAGAG-C 19526099-CAGAGAGAG-C 19×AG***
13489757-C-A 11334081-C-A ***
4280403-G-A 4412362-G-A ***
13488728-A-T 11333052-A-T ***
3067513-TTTTC-T 3199472-TTTTC-T 4×TTTC***
4318128-G-A 4450087-G-A ***
13488954-C-CG 11333278-C-CG ***
8481034-G-A 8612993-G-A 12×TA***
4116812-C-G 4248771-C-G ***
15499049-TA-T 13387169-TA-T 10×A***
4776187-A-ATT 4908146-A-ATT 13×T***
13470535-G-T 11314859-G-T ***
3037566-C-T 3169525-C-T ***
5399016-ATTTT-A 5530975-ATTTT-A 18×T***
12376216-ATT-A,AT ***
2951810-T-C 3083769-T-C ***
13478095-C-T 11322419-C-T ***
3283408-T-G 3415367-T-G ***
13488982-C-T 11333306-C-T ***
13488740-C-G 11333064-C-G ***
13478378-T-A 11322702-T-A ***
13476652-A-C 11320976-A-C ***
5786772-T-TAA 5918731-T-TAA 13×A***
4544826-CAAA-C 4676785-CAAA-C 13×A***
5320593-T-A 5452552-T-A ***
2751133-AAAATC-A 2883092-AAAATC-A ***
2921411-AT-A 3053370-AT-A ***
2950136-C-T 3082095-C-T ***
3243791-A-T 3375750-A-T ***
3329646-T-C 3461605-T-C ***
3419402-TC-T 3551361-TC-T ***
3422009-A-G 3553968-A-G ***
3430526-A-G 3562485-A-G ***
3481527-C-A,CA 3613486-C-A,CA 12×A***
3481528-A-C 3613487-A-C ***
3701346-C-T 3833305-C-T ***
3780708-C-A 3912667-C-A ***
3857655-T-C 3989614-T-C ***
3931032-T-C 4062991-T-C FT357299 ***
3931058-T-C 4063017-T-C ***
4022822-TAAA-T 4154781-TAAA-T ***
4039211-T-A 4171170-T-A ***
4040735-T-C 4172694-T-C ***
4057406-A-G 4189365-A-G ***
4207957-CAAAAA-C,CAAAA 4339916-CAAAAA-C,CAAAA 22×A***
4312028-A-C 4443987-A-C ***
4786654-GT-G 4918613-GT-G ***
4797326-G-GA 4929285-G-GA 9×A***
4896649-C-CAA 5028608-C-CAA 16×A***
4908171-A-T 5040130-A-T ***
4927445-A-C 5059404-A-C ***
4927654-G-A 5059613-G-A ***
5081894-C-T 5213853-C-T ***
5081899-G-A 5213858-G-A ***
5203779-TA-T,TAA 5335738-TA-T,TAA 24×A***
5225314-A-ATATG 5357273-A-ATATG ***
5393984-C-CTGTG 5525943-C-CTGTG 12×TG***
5430566-G-T 5562525-G-T ***
5435231-A-G 5567190-A-G ***
5451434-AT-A 5583393-AT-A 9×T***
5710697-C-T 5842656-C-T ***
5855513-A-G 5987472-A-G ***
6523050-T-C 6655009-T-C ***
6603571-C-T 6735530-C-T ***
6609322-T-G 6741281-T-G ***
6693604-T-A 6825563-T-A ***
6757566-T-C 6889525-T-C ***
7105109-A-G 7237068-A-G ***
7400963-CTT-C 7532922-CTT-C 10×T***
7623441-A-G 7755400-A-G ***
8022535-A-G 8154494-A-G ***
8107360-A-G 8239319-A-G ***
8708264-C-T 8840223-C-T ***
8708270-C-T 8840229-C-T ***
8752580-T-C 8884539-T-C ***
8781943-G-A 8913902-G-A ***
8975333-TA-T 9137724-TA-T ***
9087288-C-T 9249679-C-T ***
9297884-G-A 9460275-G-A ***
9392322-A-AT 9554713-A-AT ***
9399802-G-A 9562193-G-A ***
9500880-G-GT 9663271-G-GT ***
9674276-T-C 9836667-T-C IR3_Prx ***
9941985-TCTTATA-T 10104376-TCTTATA-T ***
10025687-T-C 10188078-T-C ***
10037910-GCTT-G 10200301-GCTT-G ***
10798933-A-C ***
13338264-C-T 11182588-C-T ***
13349230-G-C 11193554-G-C ***
13349231-A-C 11193555-A-C ***
13362804-T-A 11207128-T-A ***
13448140-CTTTCT-C 11292464-CTTTCT-C ***
13448148-T-TCCTCC 11292472-T-TCCTCC ***
13462007-G-A 11306331-G-A ***
13463970-ACCGG-A 11308294-ACCGG-A ***
13464048-G-T 11308372-G-T BY210280 ***
13465054-C-A,G 11309378-C-A,G ***
13469827-T-G 11314151-T-G ***
13469880-G-T 11314204-G-T ***
13469906-CCA-C 11314230-CCA-C ***
13472571-AGTCAAAGTCTGGAGAATGGTTACATCTCCTGGATGATCGG-A 11316895-AGTCAAAGTCTGGAGAATGGTTACATCTCCTGGATGATCGG-A ***
13472614-CAGAAATATGTCCCAATGCCCCCTCCCTCCGGAGCCTAGAGAAGATTTGCATCATTTGGGTGATCAGCGCAGAGATATATCACAATGTCCCATGTACAA-C 11316938-CAGAAATATGTCCCAATGCCCCCTCCCTCCGGAGCCTAGAGAAGATTTGCATCATTTGGGTGATCAGCGCAGAGATATATCACAATGTCCCATGTACAA-C ***
13478065-C-G 11322389-C-G ***
13478108-G-A 11322432-G-A ***
13478962-T-C 11323286-T-C ***
13483280-A-G 11327604-A-G ***
13585074-A-T 11429398-A-T ***
13595526-T-C 11439850-T-C ***
13629359-G-A 11473683-G-A ***
13873480-A-AT 11752774-A-AT ***
14047265-A-G 11926559-A-G ***
14540872-T-C 12429073-T-C ***
14999068-AT-A 12887153-AT-A ***
15303377-G-A 13191476-G-A ***
15305138-TA-T 13193237-TA-T ***
15364059-CA-C,CAA 13252179-CA-C,CAA 21×A***
15584300-G-A 13472420-G-A ***
15876380-A-T 13764500-A-T ***
15951225-CT-C 13839345-CT-C ***
16030129-G-T 13918249-G-T ***
16228018-A-C 14116138-A-C ***
16302573-A-G 14190693-A-G ***
16414401-G-A 14302521-G-A ***
17143439-AT-A 15031559-AT-A ***
17143444-T-TA 15031564-T-TA ***
17223313-TA-T 15111433-TA-T ***
17813697-TA-T 15701817-TA-T ***
17870338-G-T 15758458-G-T ***
18412262-A-T 16300382-A-T P6_Gap ***
18417704-A-G 16305824-A-G P6_Gap ***
18596097-T-C 16484217-T-C ***
18762455-T-C 16650575-T-C ***
18764650-T-C 16652770-T-C ***
19130593-T-A 17018713-T-A ***
19198266-AT-A 17086386-AT-A ***
19261335-TGAGA-T 17149455-TGAGA-T 8×GA***
19479499-TA-T 17367619-TA-T ***
21180035-G-A 19018149-G-A ***
21442706-C-CT 19280820-C-CT 8×T***
21472069-T-C 19310183-T-C ***
21510212-TA-T 19348326-TA-T ***
21550930-G-C 19389044-G-C ***
21934594-C-G 19772708-C-G ***
22023464-A-C 19861578-A-C ***
22090164-G-A 19928278-G-A ***
22519077-A-T 20357191-A-T ***
22752979-A-G 20591093-A-G ***
22762820-G-GAAAA 20600934-G-GAAAA 12×A***
22792546-T-A 20630660-T-A FTA54099 ***
23086622-TC-T 20924736-TC-T ***
23093596-TG-T 20931710-TG-T ***
23120561-ATT-A 20958675-ATT-A 11×T***
23352058-T-C 21190172-T-C ***
23855732-T-A 21693846-T-A ***
24355621-TACACACAC-T 22209474-TACACACAC-T 13×AC***
25862980-G-GA 23716833-G-GA P1_Y1 10×A***
28356431-CT-C 26210284-CT-C P1_gr2 ***
28587278-A-AGTGTG 26441131-A-AGTGTG ***
28664973-G-A 26518826-G-A ***
28664978-T-C 26518831-T-C ***
28664986-TGTG-T 26518839-TGTG-T ***
28725978-A-T 26579831-A-T ***
28818222-G-C 26672075-G-C ***
56685551-GAATGGAATGC-G ***
56685587-A-G ***
56706959-CAATGG-C 4×AATGG***
56707078-T-G ***
56826039-T-TG ***
56833253-T-TTCCATTCCACTCCAC ***
56884466-AC-A ***
56884479-T-G ***

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.