Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250

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
N55460
Manual
Edits
22241968-T-G 20080082-T-G DYZ19 A+
22697-A-C A+
6167710-A-G 6299669-A-G IR3_Dst A*
18328421-G-A 16216541-G-A P6_Prx A*
20748418-C-T 18586532-C-T P4_Prx A*
22276908-G-T 20115022-G-T DYZ19 A*
22308262-T-A 20146376-T-A DYZ19 A*
22309941-A-G 20148055-A-G DYZ19 A*
25981005-C-T 23834858-C-T P1_Y1 A*
27981383-G-A 25835236-G-A P1_Y2 A*
2850781-T-C 2982740-T-C BY189636 YY+
6700335-C-T 6832294-C-T BY189720 YY+
6754912-T-C 6886871-T-C BY189728 YY+
7271412-T-G 7403371-T-G BY189831 YY+
7280594-A-C 7412553-A-C BY189833 YY+
7787377-C-A 7919336-C-A BY189947 YY+
7881961-G-C 8013920-G-C BY189978 YY+
7961559-G-A 8093518-G-A BY190009 YY+
8069768-T-C 8201727-T-C BY190033 YY+
8488099-C-T 8620058-C-T BY190156 YY+
8695599-AT-A 8827558-AT-A +
9110858-G-C 9273249-G-C FT179619 Y+
14243993-T-C 12123287-T-C BY190527 YY+
15021390-T-C 12909479-T-C BY190668 YY+
15388906-T-C 13277026-T-C BY190737 YY+
15502658-T-C 13390778-T-C BY190762 YY+
16196661-A-G 14084781-A-G BY190882 YY+
17010980-CT-C 14899100-CT-C +
17012402-G-A 14900522-G-A BY191050 YY+
17350098-A-G 15238218-A-G YY+
17359969-T-C 15248089-T-C BY191122 YY+
17496303-T-C 15384423-T-C BY191155 YY+
17616597-A-T 15504717-A-T BY191192 YY+
17808828-C-A 15696948-C-A BY191236 YY+
17891574-C-T 15779694-C-T BY191251 YY+
18252684-T-C 16140804-T-C BY191354 Y+
18703948-A-G 16592068-A-G BY191403 YY+
19033547-G-A 16921667-G-A BY191477 YY+
19213987-G-T 17102107-G-T BY191527 YY+
19373675-T-C 17261795-T-C BY191567 YY+
19519587-A-G 17407707-A-G BY191612 YY+
21314165-G-T 19152279-G-T BY191685 YY+
21753125-G-C 19591239-G-C BY191798 YY+
21855437-T-C 19693551-T-C BY191826 YY+
23190762-A-G 21028876-A-G BY192135 Y+
23191458-G-T 21029572-G-T BY192138 Y+
23249815-G-T 21087929-G-T BY192148 YY+
23423213-G-A 21261327-G-A BY192192 YY+
23531078-A-T 21369192-A-T BY192209 YY+
14030-G-A +
14031-C-T +
22237823-C-T 20075937-C-T DYZ19 *
22302595-C-A 20140709-C-A DYZ19 *
22255458-A-T 20093572-A-T DYZ19 *
7903805-A-AGG 8035764-A-AGG *
22237834-A-C 20075948-A-C DYZ19 *
22298939-C-T 20137053-C-T DYZ19 *
22298949-T-G 20137063-T-G DYZ19 *
22431048-A-G 20269162-A-G DYZ19 *
28793752-C-G 26647605-C-G *
28812836-G-A 26666689-G-A *
4874629-C-T 5006588-C-T **
5818147-T-C 5950106-T-C FT248110 **
5785352-C-CA 5917311-C-CA 9×A**
22341159-G-C 20179273-G-C DYZ19 **
22444883-G-T 20282997-G-T ZS1143 DYZ19 **
4236090-C-A 4368049-C-A **
56833302-ATT-A **
4160035-G-T 4291994-G-T **
10986954-C-T **
13473931-C-A 11318255-C-A **
13594456-C-A 11438780-C-A **
13446576-A-T 11290900-A-T **
13446585-C-T 11290909-C-T **
5185460-C-A 5317419-C-A **
4107847-C-A 4239806-C-A **
16971281-C-A 14859401-C-A **
5577257-C-A 5709216-C-A **
6267713-A-G 6399672-A-G IR3_Dst **
15392432-C-A 13280552-C-A **
10040819-C-A 10203210-C-A **
8181386-G-A 8313345-G-A **
16679504-C-A 14567624-C-A **
24271462-C-CAA 22125315-C-CAA P3_b1 **
4901649-C-A 5033608-C-A **
10958638-G-T **
24013921-C-A 21867774-C-A **
20761015-A-AG 18599129-A-AG P4_Prx **
6435258-T-G 6567217-T-G **
10796111-C-A **
25858448-A-C 23712301-A-C P1_Y1 **
22447698-T-G 20285812-T-G DYZ19 **
10967546-T-A **
5728147-G-GA 5860106-G-GA 9×A**
9116834-G-T 9279225-G-T **
13600653-C-A 11444977-C-A **
28101347-GTT-G 25955200-GTT-G P1_Y2 **
28101350-GT-G 25955203-GT-G P1_Y2 **
25560921-G-T 23414774-G-T P1_gr1 **
18210952-C-A 16099072-C-A **
6954881-T-C 7086840-T-C **
13228083-C-A 11072407-C-A **
23723514-G-T 21561628-G-T **
10892542-T-A **
13472974-C-A 11317298-C-A **
16750145-A-C 14638265-A-C **
10999900-A-G **
10894145-C-A **
15084621-C-A 12972711-C-A **
10892538-C-G **
18127833-C-A 16015953-C-A **
19304298-C-A 17192418-C-A **
17181732-C-A 15069852-C-A **
14716563-C-A 12604631-C-A FT281707 **
19600430-A-G 17488550-A-G P5_Prx **
14609824-AT-A 12498026-AT-A **
6977624-C-A 7109583-C-A **
13625168-C-A 11469492-C-A **
4756557-C-A 4888516-C-A **
10807244-A-ATTCTT **
10807254-A-C **
10789242-G-T **
15333760-C-A 13221878-C-A **
23447359-C-A 21285473-C-A **
23648185-C-A 21486299-C-A **
22625097-C-A 20463211-C-A **
56833210-C-A **
22993302-C-A 20831416-C-A **
7640954-C-A 7772913-C-A **
24513089-C-A 22366942-C-A **
7085353-C-A 7217312-C-A **
5621240-C-A 5753199-C-A **
10777873-A-C **
14568204-C-A 12456404-C-A **
16104405-C-A 13992525-C-A P8_Prx **
13433285-C-A 11277609-C-A **
15832275-C-A 13720395-C-A **
16336922-A-T 14225042-A-T **
28802593-GGAT-G 26656446-GGAT-G **
8153968-G-C 8285927-G-C **
11643734-GA-G **
10999908-C-G **
56838303-C-A **
13527237-C-A 11371561-C-A **
10837862-A-T **
16636895-C-A 14525015-C-A FT249338 **
16783384-C-A 14671504-C-A **
14609798-TCAA-T 12498000-TCAA-T **
14518884-T-C 12407085-T-C **
10889234-A-G **
4460686-C-A 4592645-C-A **
23062897-C-A 20901011-C-A **
15210974-G-T 13099060-G-T **
7019132-C-A 7151091-C-A **
4437785-G-A 4569744-G-A **
10992377-C-A **
18346547-C-A 16234667-C-A P6_Prx **
7237176-C-A 7369135-C-A **
14714631-C-A 12602698-C-A **
26454945-C-A 24308798-C-A P1_Y1 **
24513198-C-A 22367051-C-A **
18614209-C-A 16502329-C-A **
22341160-G-T 20179274-G-T DYZ19 **
19610348-C-A 17498468-C-A P5_Prx **
10999895-A-T **
13908445-C-A 11787739-C-A **
13259028-C-A 11103352-C-A **
7228163-C-A 7360122-C-A **
19123247-C-T 17011367-C-T FT249763 **
3467436-C-A 3599395-C-A **
16341089-C-A 14229209-C-A **
27719028-C-G 25572881-C-G P1_Y2 5×CTGG**
15642886-C-T 13531006-C-T **
7137031-C-A 7268990-C-A **
3865860-C-A 3997819-C-A **
17720977-C-A 15609097-C-A **
16445631-C-A 14333751-C-A **
17963663-GT-G 15851783-GT-G 9×T**
23514427-C-A 21352541-C-A **
56830792-C-A **
3093131-G-C 3225090-G-C **
4175204-C-A 4307163-C-A **
4417611-T-C 4549570-T-C **
4804332-C-A 4936291-C-A **
5191294-A-G 5323253-A-G **
5255969-G-T 5387928-G-T **
5524107-A-G 5656066-A-G **
5761037-C-A 5892996-C-A **
6756586-C-A 6888545-C-A **
7310572-T-C 7442531-T-C **
7473522-AAAAACAT-A 7605481-AAAAACAT-A IR1_L **
7670837-C-T 7802796-C-T **
7706333-C-A 7838292-C-A **
8153974-T-C 8285933-T-C **
8218059-TTC-T 8350018-TTC-T **
8735042-C-A 8867001-C-A **
8735384-T-A 8867343-T-A **
8786465-G-T 8918424-G-T **
8822451-G-T 8954410-G-T **
9144287-A-C 9306678-A-C **
9474188-C-A 9636579-C-A **
9590592-G-A 9752983-G-A IR3_Prx **
9932124-A-G 10094515-A-G FT361835 **
9996544-A-G 10158935-A-G **
10652520-A-G **
10777770-C-A **
10789473-C-T **
10807266-TCCTTT-C **
10807319-C-G **
10837818-T-A **
10889269-A-AT **
10920877-G-T **
10953139-C-A FT223095 **
10980722-T-C **
10983155-C-T **
10983163-C-G **
10999890-A-C **
11030158-C-G **
13350033-C-T 11194357-C-T **
13461902-G-T 11306226-G-T **
13465457-C-G 11309781-C-G **
13677794-G-C 11522118-G-C **
13712330-C-T 11556654-C-T **
13722627-G-A 11566951-G-A **
11658312-G-T **
11664861-G-T **
13828484-A-G 11707778-A-G **
13832219-G-T 11711513-G-T FT248772 **
13833197-G-T 11712491-G-T FT174866 **
13886220-C-A 11765514-C-A **
13891706-C-A 11771000-C-A **
13902052-G-A 11781346-G-A FT168277 **
14027098-C-A 11906392-C-A **
14029516-C-T 11908810-C-T FT248851 **
14124080-C-A 12003374-C-A **
14181232-A-G 12060526-A-G **
14191947-GTTT-G 12071241-GTTT-G 11×T**
14213008-C-A 12092302-C-A **
14245120-G-A 12124414-G-A **
14308346-A-G 12187640-A-G **
14421937-C-A 12301212-C-A **
14483554-C-A 12362823-C-A **
14550595-C-A 12438796-C-A **
14552415-G-C 12440616-G-C **
14557143-C-A 12445344-C-A **
14557158-C-A 12445359-C-A **
14563103-C-T 12451303-C-T **
14630472-T-TC 12518541-T-TC **
14696019-AAAAC-A 12584085-AAAAC-A **
14761068-G-T 12649137-G-T **
14831928-C-A 12719995-C-A **
14995220-C-A 12883305-C-A **
15111518-T-C 12999605-T-C **
15123836-C-A 13011923-C-A **
15124025-T-C 13012112-T-C **
15197353-T-C 13085439-T-C **
15221690-C-A 13109776-C-A **
15498186-T-A 13386306-T-A **
15576617-C-T 13464737-C-T **
15744249-C-A 13632369-C-A **
15791415-C-A 13679535-C-A **
16071753-T-C 13959873-T-C **
16095245-A-T 13983365-A-T FT249249 **
16216883-C-A 14105003-C-A **
16309430-G-C 14197550-G-C **
16316849-A-T 14204969-A-T **
16364026-CA-C 14252146-CA-C **
16428580-T-A 14316700-T-A **
16622153-C-A 14510273-C-A **
16750235-T-C 14638355-T-C **
17093500-A-C 14981620-A-C **
17320607-A-AT 15208727-A-AT **
17463133-C-T 15351253-C-T FT249466 **
17478843-C-A 15366963-C-A **
17505703-C-A 15393823-C-A **
17779443-T-C 15667563-T-C **
18094155-G-A 15982275-G-A **
18194430-A-G 16082550-A-G **
18343543-G-T 16231663-G-T P6_Prx **
18753291-A-G 16641411-A-G **
18857573-TTC-T 16745693-TTC-T **
19007765-C-A 16895885-C-A **
19211507-C-T 17099627-C-T **
19389683-C-A 17277803-C-A **
20213009-TTC-T 18051123-TTC-T P5_Dst **
20295292-T-TC 18133406-T-TC P5_Dst **
20334998-C-A 18173112-C-A P5_Dst **
20684723-T-A 18522837-T-A P4_Prx **
20873757-CTGTTTT-C 18711871-CTGTTTT-C P4_Dst **
20993182-CATACTATA-C 18831296-CATACTATA-C P4_Dst **
21002538-T-TCC 18840652-T-TCC P4_Dst **
21154685-C-A 18992799-C-A **
21187869-C-G 19025983-C-G **
21579851-T-C 19417965-T-C **
21954179-C-A 19792293-C-A **
22241637-A-C 20079751-A-C DYZ19 **
22836747-C-A 20674861-C-A **
22950147-G-A 20788261-G-A **
23047446-C-A 20885560-C-A **
23341746-C-T 21179860-C-T **
23415342-ATTTTTTTT-A 21253456-ATTTTTTTT-A 21×T**
23723545-A-T 21561659-A-T **
23824935-T-C 21663049-T-C **
24280953-C-A 22134806-C-A P3_t1 **
24475197-G-T 22329050-G-T **
24878381-CT-C 22732234-CT-C g1 **
27719029-C-CTTGGG 25572882-C-CTTGGG P1_Y2 **
27719033-C-CT 25572886-C-CT P1_Y2 **
28429509-G-T 26283362-G-T P1_gr2 **
28549974-A-C 26403827-A-C **
28622412-C-A 26476265-C-A **
28641116-C-A 26494969-C-A **
28728368-G-A 26582221-G-A **
56826726-C-T **
56830802-C-G **
56831337-A-C **
56835003-A-T **
56835296-G-T **
10658518-C-G,T ***
9438072-G-T 9600463-G-T ***
2700007-C-A 2831966-C-A ***
19479486-C-A 17367606-C-A ***
7470700-CAAAAAA-C 7602659-CAAAAAA-C IR1_L 25×A***
15352861-CAAAAA-C 13240980-CAAAAA-C 17×A***
18255888-TAAAAAA-T 16144008-TAAAAAA-T 22×A***
13450107-CACTCCACCCCATCCCATCCCATTCT-C 11294431-CACTCCACCCCATCCCATCCCATTCT-C ***
21238847-C-A 19076961-C-A ***
18718952-A-G 16607072-A-G BY211790 ***
2753659-C-A 2885618-C-A ***
5189079-G-A 5321038-G-A ***
5818272-C-A 5950231-C-A ***
7157662-G-T 7289621-G-T ***
13458740-C-T 11303064-C-T ***
13468453-G-A 11312777-G-A ***
13489756-G-A,C 11334080-G-A,C ***
13815202-G-C 11694496-G-C ***
13815206-T-A 11694500-T-A ***
13866220-T-G 11745514-T-G ***
13919425-C-A 11798719-C-A ***
14194949-G-T 12074243-G-T ***
14357397-C-A 12236692-C-A ***
15229615-C-A 13117701-C-A ***
16015473-G-T 13903593-G-T ***
17231706-C-A 15119826-C-A ***
17461717-C-A 15349837-C-A ***
17575453-C-A 15463573-C-A ***
19476797-C-A 17364917-C-A ***
20611380-G-T 18449494-G-T P5_Dst ***
21190113-T-C 19028227-T-C ***
21974594-C-A 19812708-C-A ***
22881530-A-G 20719644-A-G ***
28370009-TATATATAG-T,TATATAGAG 26223862-TATATATAG-T,TATATAGAG P1_gr2 ***

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.

Mutation Notes:

Kit POSITION-REF-ALT (hg19) POSITION-REF-ALT (hg38) Note
Manual21380200-G-A19218314-G-APer FTDNA SNP Results