Tree Position

R-P312/S116 > Z40481 > FGC84729 > DF99/S11987 > Z29643 > FGC16982 > S23540 > FGC16979 > ZZ73 > Y31433

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 STRBigY2
N55939
22344941-C-T 20183055-C-T FGC47845 DYZ19 A*
6308728-G-T 6440687-G-T IR3_Dst A*
18344483-C-G 16232603-C-G P6_Prx A*
22291196-G-A 20129310-G-A DYZ19 A*
22305327-G-T 20143441-G-T DYZ19 A*
28817575-A-G 26671428-A-G A*
28817768-G-T 26671621-G-T A*
7677675-T-G 7809634-T-G BY178131 YY+
8404358-T-C 8536317-T-C BY178283 YY+
8598255-C-T 8730214-C-T BY178348 YY+
8708614-C-T 8840573-C-T BY178372 YY+
8746206-G-A 8878165-G-A BY178381 YY+
9401922-C-T 9564313-C-T BY178476 YY+
9743591-C-G 9905982-C-G BY178520 +
13699360-G-A 11543684-G-A BY47678 DYZ17 +
13834156-C-G 11713450-C-G BY178556 DYZ17 +
14348903-A-C 12228198-A-C BY178648 YY+
14854885-C-T 12742951-C-T BY178726 YY+
15021905-C-G 12909994-C-G BY178760 YY+
15484956-G-A 13373076-G-A BY178829 YY+
16300144-C-T 14188264-C-T BY178963 YY+
16452975-T-C 14341095-T-C BY178996 YY+
17156442-C-T 15044562-C-T BY179133 YY+
17323843-A-C 15211963-A-C BY179159 YY+
18865533-G-A 16753653-G-A BY179441 YY+
19136819-A-T 17024939-A-T BY179508 YY+
20833268-T-A 18671382-T-A BY212761 P4_Gap +
21075197-G-T 18913311-G-T BY179606 YY+
21204290-C-G 19042404-C-G BY179628 YY+
21606511-A-C 19444625-A-C BY179704 YY+
22239192-T-G 20077306-T-G BY213901 DYZ19 +
22465438-A-T 20303552-A-T BY221526 DYZ19 +
22484219-G-A 20322333-G-A FT460438 DYZ19 +
22931896-C-G 20770010-C-G BY179922 YY+
23420070-T-C 21258184-T-C BY180006 YY+
22340938-C-T 20179052-C-T FGC47844 DYZ19 *
13695176-C-T 11539500-C-T DYZ17 *
6505756-T-G 6637715-T-G Y9552 Z8703 **
13981697-A-C 11860991-A-C **
22916033-C-A 20754147-C-A CTS11045 **
13846655-C-G 11725949-C-G DYZ17 **
15450283-T-C 13338403-T-C **
22253045-G-T 20091159-G-T DYZ19 **
22253054-C-G 20091168-C-G DYZ19 **
58979399-A-T 56833252-A-T **
28819293-G-T 26673146-G-T **
7098676-G-C 7230635-G-C **
7502441-A-ACT 7634400-A-ACT IR1_L **
11036048-T-G **
11036059-C-T **
28818219-A-C 26672072-A-C **
18951625-C-T 16839745-C-T **
15400193-C-A 13288313-C-A **
28818378-G-C 26672231-G-C **
13937357-C-A 11816651-C-A **
2970412-C-A 3102371-C-A **
15276747-C-A 13164836-C-A **
10821886-C-T **
5267073-C-A 5399032-C-A **
22060389-C-A 19898503-C-A **
10956611-T-A **
15579416-A-C 13467536-A-C **
18707999-C-A 16596119-C-A **
13705487-A-C 11549811-A-C DYZ17 **
5560066-C-A 5692025-C-A **
11022964-T-A **
28819226-A-T 26673079-A-T **
14807409-C-G 12695480-C-G **
14807410-CAT-C 12695481-CAT-C **
28547407-C-A 26401260-C-A **
9602630-C-A 9765021-C-A IR3_Prx **
17014171-C-A 14902291-C-A **
15717996-TG-T 13606116-TG-T **
56763524-T-C **
56763531-G-T **
13454691-C-A 11299015-C-A **
19187413-T-G 17075533-T-G **
4871936-A-C 5003895-A-C **
15790548-C-A 13678668-C-A **
2803528-C-A 2935487-C-A **
10661556-T-G **
13470828-C-A 11315152-C-A **
15747543-A-C 13635663-A-C **
7181912-C-A 7313871-C-A **
10671020-C-A **
13453247-T-C 11297571-T-C **
13453256-T-C 11297580-T-C **
6652540-C-A 6784499-C-A **
23475592-C-A 21313706-C-A **
13453239-C-G 11297563-C-G **
28497003-T-G 26350856-T-G **
7098652-C-A 7230611-C-A **
6926255-C-A 7058214-C-A **
13981742-C-A 11861036-C-A **
10839959-T-A **
10945176-C-T **
19842128-G-T 17730248-G-T P5_Prx **
14605699-C-A 12493901-C-A **
14218513-C-A 12097807-C-A **
22936321-A-T 20774435-A-T **
14527144-C-A 12415345-C-A **
22078244-C-A 19916358-C-A **
21472167-G-A 19310281-G-A **
16783334-C-A 14671454-C-A **
19071097-C-A 16959217-C-A **
10692821-C-A **
13459375-C-A 11303699-C-A **
19517726-C-A 17405846-C-A **
19250118-C-A 17138238-C-A **
4240304-C-A 4372263-C-A **
7662816-C-A 7794775-C-A **
7152772-C-A 7284731-C-A **
10657295-C-T **
4215559-A-C 4347518-A-C **
23041192-C-A 20879306-C-A **
9125533-G-T **
23875750-A-G 21713864-A-G **
13487680-T-G 11332004-T-G **
2804016-ACGG-A 2935975-ACGG-A 5×CGG**
23002794-C-A 20840908-C-A **
4433662-C-A 4565621-C-A **
22729357-C-A 20567471-C-A **
7098702-T-TA 7230661-T-TA **
15450271-G-A 13338391-G-A **
10776026-A-AT **
10776029-C-CACTG **
9712927-A-AC 9875318-A-AC IR3_Prx **
7148274-C-A 7280233-C-A **
22052616-C-A 19890730-C-A **
13453242-T-C 11297566-T-C **
2683416-C-A 2815375-C-A **
2745910-C-A 2877869-C-A **
2758354-G-A 2890313-G-A **
2785248-A-C 2917207-A-C **
2813212-T-C 2945171-T-C **
2860181-G-A 2992140-G-A **
2986246-T-C 3118205-T-C **
3109156-G-T 3241115-G-T **
3467208-A-C 3599167-A-C **
3550356-G-A 3682315-G-A **
3602616-C-A 3734575-C-A **
3626491-A-C 3758450-A-C **
3834933-C-G 3966892-C-G **
3846875-G-T 3978834-G-T **
3990511-A-C 4122470-A-C **
4049638-A-G 4181597-A-G **
4049745-C-A 4181704-C-A **
4069969-G-A 4201928-G-A **
4129094-C-T 4261053-C-T FT366690 **
4270865-C-A 4402824-C-A **
4293522-T-G 4425481-T-G **
4425340-C-A 4557299-C-A **
4521872-T-G 4653831-T-G **
4788782-C-A 4920741-C-A **
4918787-T-A 5050746-T-A **
5127647-T-G 5259606-T-G **
5267127-GTCTAGT-G 5399086-GTCTAGT-G **
5368152-C-T 5500111-C-T **
5598601-G-T 5730560-G-T **
5782341-T-A 5914300-T-A FT226031 **
5904772-G-A 6036731-G-A **
6202036-A-G 6333995-A-G IR3_Dst **
6352593-T-G 6484552-T-G **
6352636-G-T 6484595-G-T **
6403002-C-A 6534961-C-A **
6569264-A-T 6701223-A-T **
6580313-T-G 6712272-T-G **
6759258-A-C 6891217-A-C **
6926326-T-G 7058285-T-G **
6975994-T-C 7107953-T-C **
7040030-T-G 7171989-T-G **
7098684-G-A 7230643-G-A **
7098693-T-C 7230652-T-C **
7111475-C-A 7243434-C-A **
7127218-T-C 7259177-T-C **
7222936-C-A 7354895-C-A **
7224046-A-G 7356005-A-G FT200996 **
7237513-C-A 7369472-C-A **
7295820-C-T 7427779-C-T **
7733754-C-A 7865713-C-A **
7866222-A-G 7998181-A-G **
7869181-A-T 8001140-A-T FT364066 **
7996784-C-T 8128743-C-T **
8267267-A-T 8399226-A-T **
8408548-T-C 8540507-T-C **
8987096-T-C 9149487-T-C **
9371567-TTTA-T 9533958-TTTA-T **
9925194-A-G 10087585-A-G **
9959298-C-A 10121689-C-A **
9967145-A-C 10129536-A-C **
9975052-T-G 10137443-T-G **
10034762-GCTTCCCTCCCTCCCACATAC-G 10197153-GCTTCCCTCCCTCCCACATAC-G **
10646689-T-A **
10646693-A-T **
10657352-C-T **
10657360-C-G **
10658440-C-A **
10670990-CTTTTC-G **
10688076-A-G **
10792910-A-G **
10805847-T-G **
10821903-A-G **
10958367-T-A **
10965203-T-G **
11038101-A-T **
13213757-T-G 11058081-T-G **
13223761-G-GGA 11068085-G-GGA **
13236500-T-G 11080824-T-G **
13459477-T-G 11303801-T-G **
13465069-C-A 11309393-C-A **
13466786-C-A 11311110-C-A **
13471420-A-T 11315744-A-T **
13476972-C-A 11321296-C-A **
13584192-C-A 11428516-C-A **
13653248-A-G 11497572-A-G DYZ17 **
13711405-T-G 11555729-T-G BY89428 DYZ17 **
11674870-A-T DYZ17 **
13804280-A-C 11683574-A-C DYZ17 **
13860261-A-G 11739555-A-G DYZ17 **
13865988-T-A 11745282-T-A DYZ17 **
13865989-G-A 11745283-G-A DYZ17 **
13865995-G-GACGTC 11745289-G-GACGTC DYZ17 **
13866007-A-G 11745301-A-G DYZ17 **
13868628-C-A 11747922-C-A DYZ17 **
13873975-G-A 11753269-G-A **
13981703-C-A 11860997-C-A **
14006762-C-A 11886056-C-A **
14006787-T-G 11886081-T-G **
14035156-A-C 11914450-A-C **
14059217-A-C 11938511-A-C **
14091504-A-C 11970798-A-C **
14104180-T-G 11983474-T-G **
14138753-A-T 12018047-A-T FT201391 **
14153934-C-A 12033228-C-A **
14168183-A-C 12047477-A-C **
14284347-A-G 12163641-A-G **
14284876-G-T 12164170-G-T **
14289178-C-A 12168472-C-A **
14367799-G-T 12247095-G-T **
14446577-T-G 12325850-T-G **
14470673-A-C 12349942-A-C **
14471772-A-C 12351041-A-C **
14485859-C-A 12365128-C-A **
12378791-T-C **
12378792-G-A **
12378794-G-A **
14518993-T-C 12407194-T-C FT198685 **
14568705-C-A 12456905-C-A **
14595913-C-A 12484113-C-A **
14607656-C-A 12495858-C-A **
14607747-C-A 12495949-C-A **
14792806-T-G 12680877-T-G **
14807402-C-G 12695473-C-G **
14807408-T-C 12695479-T-C **
14807418-T-A 12695489-T-A **
15115058-G-A 13003145-G-A **
15177671-A-G 13065757-A-G FT260698 **
15197537-A-C 13085623-A-C **
15212235-A-T 13100321-A-T **
15302665-A-C 13190764-A-C **
15434269-G-A 13322389-G-A **
15477872-A-G 13365992-A-G **
15497452-C-A 13385572-C-A **
15697049-C-A 13585169-C-A **
15791169-C-A 13679289-C-A **
15798321-TATGACAAATACTTAAGGCA-T 13686441-TATGACAAATACTTAAGGCA-T **
15863731-C-A 13751851-C-A **
15930904-T-G 13819024-T-G **
16018104-C-A 13906224-C-A **
16777240-C-A 14665360-C-A **
16952864-C-A 14840984-C-A **
17136926-C-A 15025046-C-A **
17141879-G-A 15029999-G-A 12×A**
17225849-G-A 15113969-G-A **
17349436-T-A 15237556-T-A **
17426382-A-C 15314502-A-C FT364096 **
17506474-A-T 15394594-A-T FT201909 **
17559813-T-G 15447933-T-G **
17842243-T-A 15730363-T-A **
18165460-G-T 16053580-G-T **
18270330-T-C 16158450-T-C **
18280126-C-A 16168246-C-A P6_Prx **
18780283-A-G 16668403-A-G **
18982577-A-C 16870697-A-C **
19022741-CATA-C 16910861-CATA-C **
19074909-GAGAAAAAGATA-G 16963029-GAGAAAAAGATA-G **
19111390-A-T 16999510-A-T **
19298919-T-A 17187039-T-A **
19300966-G-A 17189086-G-A **
19402880-C-A 17291000-C-A **
19407517-C-A 17295637-C-A **
19844857-C-A 17732977-C-A P5_Prx **
20973687-G-T 18811801-G-T P4_Dst **
20973710-G-T 18811824-G-T P4_Dst **
21340304-C-A 19178418-C-A **
21523259-C-A 19361373-C-A **
21909628-C-A 19747742-C-A **
21960388-C-A 19798502-C-A **
21976208-C-A 19814322-C-A **
22001841-A-C 19839955-A-C **
22048641-C-A 19886755-C-A **
22102004-T-A 19940118-T-A **
22146776-T-C 19984890-T-C **
22660706-C-A 20498820-C-A **
23058651-T-A 20896765-T-A **
23118988-T-G 20957102-T-G **
23392191-C-A 21230305-C-A **
23395864-A-T 21233978-A-T **
23442569-C-A 21280683-C-A **
23516704-G-A 21354818-G-A **
23569181-G-A 21407295-G-A **
23832946-C-A 21671060-C-A **
24331491-G-T 22185344-G-T P3_t1 **
24509717-CTCAGATA-C 22363570-CTCAGATA-C **
24877161-A-C 22731014-A-C g1 **
26222512-T-A 24076365-T-A P1_Y1 **
28624143-G-A 26477996-G-A **
28653739-C-A 26507592-C-A **
28800737-G-T 26654590-G-T **
56842196-A-G **
21673038-C-A 19511152-C-A ***
56826538-C-T ***
14062010-CAAAAA-C 11941304-CAAAAA-C 34×A***
56833150-C-A ***
13489681-C-A 11334005-C-A ***
11003803-C-A ***
21979602-ATT-A 19817716-ATT-A 14×T***
24070130-G-T 21923983-G-T P3_b1 ***
19411280-G-A 17299400-G-A BY39949BY14297 ***
16028943-C-A 13917063-C-A ***
10789371-A-G ***
13489684-C-G 11334008-C-G ***
15557033-CAAA-C,CAAAA 13445153-CAAA-C,CAAAA 18×A***
21549183-G-GTTT 19387297-G-GTTT 17×T***
4160207-C-A 4292166-C-A BY193011 ***
8162460-C-A 8294419-C-A ***
13253396-G-GTTTTTTT 11097720-G-GTTTTTTT 12×T***
13442670-C-T 11286994-C-T ***
13462959-G-A 11307283-G-A ***
13470478-T-C 11314802-T-C ***
13475975-A-G 11320299-A-G ***
13711342-A-T 11555666-A-T DYZ17 ***
13832519-A-T 11711813-A-T DYZ17 ***
13832521-T-C 11711815-T-C DYZ17 ***
14951505-A-G 12839579-A-G ***
18997420-C-A 16885540-C-A ***
21495218-G-A 19333332-G-A ***
23577199-TA-T 21415313-TA-T ***
56829710-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.