Shaddix

BigY2: 785145

Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > Z195/S355 > Z198 > Z46513 > ZS312 > Z262 > M167 > Z264 > BY3266

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
785145
22231459-G-A 20069573-G-A DYZ19 A*
19629425-T-A 17517545-T-A P5_Prx A*
19653446-A-T 17541566-A-T P5_Prx A*
20669366-G-A 18507480-G-A P4_Prx A*
24253608-G-A 22107461-G-A P3_b1 A*
24346445-T-C 22200298-T-C P3_t1 A*
28816587-T-G 26670440-T-G A*
8069723-A-G 8201682-A-G BY42746 YY+
2759063-C-T 2891022-C-T Y138773 YY+
6818362-A-T 6950321-A-T Y138748 YY+
7909017-A-G 8040976-A-G Y138772 YY+
7963305-A-G 8095264-A-G Y138764 YY+
8364392-T-C 8496351-T-C Y138766 YY+
8723130-C-G 8855089-C-G Y138763 YY+
9869248-G-A 10031639-G-A Y138725 YY+
13660261-G-A 11504585-G-A Y138700 +
15124558-G-A 13012645-G-A Y138715 YY+
15124559-A-G 13012646-A-G Y138713 YY+
15994323-GGC-G 13882443-GGC-G +
17109791-C-T 14997911-C-T Y138709 YY+
17237359-A-G 15125479-A-G BY113193 YY+
17237357-AAATC-A 15125477-AAATC-A +
17237366-A-G 15125486-A-G BY113194 YY+
17237367-C-G 15125487-C-G BY113195 YY+
17492722-G-A 15380842-G-A Y99312 YY+
17831755-A-AT 15719875-A-AT 8×T+
18538206-A-G 16426326-A-G Y138770 Y+
18564771-G-A 16452891-G-A Y138724 YY+
18765144-A-G 16653264-A-G Y138711 YY+
21735610-C-T 19573724-C-T Y138755 YY+
21983081-G-A 19821195-G-A FGC7845 YY+
22445955-C-A 20284069-C-A BY219748 DYZ19 +
22477135-G-T 20315249-G-T FT459947 DYZ19 +
23117228-G-A 20955342-G-A Y138710 YY+
23822787-G-C 21660901-G-C BY148058 Y+
23874899-G-T 21713013-G-T Y138769 Y+
6402246-C-T 6534205-C-T *
8258869-C-T 8390828-C-T YY*
14394481-A-G 12273777-A-G ZS1295 YY*
22301713-A-T 20139827-A-T DYZ19 *
22318574-A-G 20156688-A-G DYZ19 *
26099821-CCCTTTG-C 23953674-CCCTTTG-C P1_Y1 **
13460728-C-A 11305052-C-A **
19528524-CAAAAA-C 17416644-CAAAAA-C 18×A**
13457347-TATTCCATTCC-T 11301671-TATTCCATTCC-T 10×ATTCC**
18267125-C-T 16155245-C-T Y138703 **
26991383-G-A 24845236-G-A P1_r4 **
13405050-G-A 11249374-G-A FT262864 **
13932938-C-A 11812232-C-A FT304200 **
17307251-C-T 15195371-C-T **
23317706-G-T 21155820-G-T **
17535691-C-A 15423811-C-A **
13460747-T-G 11305071-T-G **
13460732-C-G 11305056-C-G **
21708271-C-A 19546385-C-A **
2651883-CTTTTTT-C 2783842-CTTTTTT-C 19×T**
13460676-T-C 11305000-T-C **
13460774-T-C 11305098-T-C **
13460687-G-A 11305011-G-A **
17079087-C-A 14967207-C-A **
28818344-A-T 26672197-A-T **
28818345-G-T 26672198-G-T **
28818389-TGG-T 26672242-TGG-T **
28818395-G-GTGT 26672248-G-GTGT **
11030175-T-G **
24302817-A-AT 22156670-A-AT P3_t1 **
2812777-ATTTTTTT-A 2944736-ATTTTTTT-A 30×T**
6582508-C-A 6714467-C-A **
10887966-C-T BY83950 **
10972947-G-C **
11643763-G-C BY89854 **
19247098-C-A 17135218-C-A **
15034934-C-A 12923022-C-A **
10807816-A-T **
10821937-C-A **
22698968-C-A 20537082-C-A **
11643787-T-C **
26204684-T-A 24058537-T-A P1_Y1 **
28799029-G-T 26652882-G-T S26569 **
28756157-C-A 26610010-C-A **
7990931-C-A 8122890-C-A **
14073187-C-T 11952481-C-T 27×T**
23720449-G-T 21558563-G-T 8×A**
10807812-G-T **
10060711-C-A 10223102-C-A **
16478225-T-G 14366345-T-G **
22065372-C-A 19903486-C-A **
10889303-C-G **
25870895-GT-G 23724748-GT-G P1_Y1 **
2669832-C-A 2801791-C-A **
10821890-T-A **
15047540-C-A 12935631-C-A **
15926946-C-A 13815066-C-A **
24611994-A-AT 22465847-A-AT P3_t2 **
19183845-TTG-T 17071965-TTG-T **
16063473-C-A 13951593-C-A **
15623438-G-A 13511558-G-A **
2790410-C-A 2922369-C-A **
8290130-G-T 8422089-G-T **
14985280-C-A 12873348-C-A **
13874110-T-G 11753404-T-G **
2928550-C-A 3060509-C-A FT315464 **
13884923-C-A 11764217-C-A **
15605499-C-A 13493619-C-A **
28818315-G-A 26672168-G-A **
7706451-C-A 7838410-C-A **
15734188-C-A 13622308-C-A **
10984041-C-A FT439190 **
4326021-C-A 4457980-C-A **
13932516-C-A 11811810-C-A **
24290788-C-A 22144641-C-A P3_t1 **
21863938-C-A 19702052-C-A **
5215744-C-A 5347703-C-A **
21703273-C-A 19541387-C-A **
19009347-C-A 16897467-C-A **
4567808-C-A 4699767-C-A **
14328060-C-A 12207354-C-A FT260476 **
10795897-A-T **
10673967-C-A **
17812094-A-C 15700214-A-C **
56833700-C-CTCCAT **
22286920-C-T 20125034-C-T DYZ19 **
14093418-C-A 11972712-C-A **
8661863-C-A 8793822-C-A **
13460767-A-G 11305091-A-G **
10999952-T-C FT439854 **
5606220-C-A 5738179-C-A **
4928795-C-A 5060754-C-A **
8911978-G-T 9043937-G-T **
6774322-C-A 6906281-C-A **
13410590-C-A 11254914-C-A **
22935250-C-A 20773364-C-A **
13456922-C-A 11301246-C-A **
14888239-C-A 12776305-C-A **
17692047-C-A 15580167-C-A **
22615390-C-A 20453504-C-A **
26075717-G-T 23929570-G-T P1_Y1 **
5851415-C-A 5983374-C-A **
28506192-C-A 26360045-C-A **
5411975-C-A 5543934-C-A **
14933523-C-A 12821588-C-A **
3640416-C-A 3772375-C-A **
13865815-G-GAAACA 11745109-G-GAAACA **
10958827-A-ACACAT **
17196475-C-A 15084595-C-A **
23127711-C-A 20965825-C-A **
5669372-C-A 5801331-C-A **
13460685-C-T 11305009-C-T **
13460733-G-A 11305057-G-A **
10993004-C-G **
19020295-C-A 16908415-C-A **
3330938-C-A 3462897-C-A **
10807824-C-CCATTA **
10807855-C-T **
10807862-T-C **
20050979-T-A 17939099-T-A P5_Prx **
14300140-C-A 12179434-C-A **
13919583-C-A 11798877-C-A **
23255259-C-A 21093373-C-A **
27877457-G-T 25731310-G-T P1_Y2 **
10798302-A-T **
13478236-C-G 11322560-C-G **
4272466-C-A 4404425-C-A **
13460651-C-T 11304975-C-T **
2758627-A-G 2890586-A-G **
2852418-A-C 2984377-A-C **
2852435-A-C 2984394-A-C **
2900766-T-G 3032725-T-G **
3274747-C-A 3406706-C-A **
3680352-A-G 3812311-A-G **
3866059-C-A 3998018-C-A **
4114679-A-C 4246638-A-C **
4116242-G-T 4248201-G-T **
4671730-T-A 4803689-T-A **
5186442-G-T 5318401-G-T **
5313622-C-A 5445581-C-A **
5601209-C-A 5733168-C-A **
5701845-G-C 5833804-G-C **
5755140-C-A 5887099-C-A **
6224837-G-T 6356796-G-T IR3_Dst **
6325250-G-T 6457209-G-T IR3_Dst **
6444949-A-T 6576908-A-T **
6765740-G-A 6897699-G-A **
6816718-A-AT 6948677-A-AT **
7041686-C-A 7173645-C-A **
7086791-A-C 7218750-A-C **
7101491-C-A 7233450-C-A **
7134062-T-G 7266021-T-G **
7172618-C-A 7304577-C-A **
7295856-G-C 7427815-G-C **
7304413-C-A 7436372-C-A **
7306783-GCA-G 7438742-GCA-G **
8288875-T-A 8420834-T-A **
8449485-G-C 8581444-G-C Y138736 **
9438098-T-A 9600489-T-A **
9629209-G-T 9791600-G-T IR3_Prx **
9629211-G-T 9791602-G-T IR3_Prx **
10672971-C-A **
10672987-C-A **
10682503-A-ACACCT **
10682515-T-TAC **
10682517-CAT-C **
10682531-CCA-C **
10682536-CCAT-C **
10795880-C-G **
10795910-C-G **
10820170-C-T **
10820179-A-C **
10820184-A-C **
10820185-C-A **
10836047-C-A **
10845691-C-CGGAAG **
10878641-C-T **
10887970-T-TCCGTA **
10993003-C-T **
11009410-G-T **
13213594-G-A 11057918-G-A **
13216523-G-A 11060847-G-A **
13271785-AAAC-A 11116109-AAAC-A **
13326133-CT-C 11170457-CT-C **
13402365-C-A 11246689-C-A **
13458718-T-G 11303042-T-G **
13476979-C-A 11321303-C-A **
13478246-C-A 11322570-C-A **
13488685-G-T 11333009-G-T **
13491642-C-A 11335966-C-A **
13522123-G-T 11366447-G-T **
13695736-G-T 11540060-G-T **
13748413-G-T 11592737-G-T **
11643003-A-T **
11643767-T-TTAACCTGAATAGAAA **
11643792-T-G **
13817994-C-T 11697288-C-T FT20630 **
13842660-A-AT 11721954-A-AT **
13842663-GA-G 11721957-GA-G **
13842671-T-TGAACA 11721965-T-TGAACA **
13883132-C-A 11762426-C-A **
13908416-C-A 11787710-C-A **
13989142-C-A 11868436-C-A **
14008806-C-A 11888100-C-A **
14142941-T-G 12022235-T-G **
14159643-G-T 12038937-G-T **
14270549-T-C 12149843-T-C **
14328019-C-A 12207313-C-A **
14475917-G-T 12355186-G-T **
14537717-C-A 12425918-C-A **
14582182-C-A 12470382-C-A **
14592117-G-A 12480317-G-A **
14627109-C-A 12515177-C-A **
14834298-TACAC-T 12722365-TACAC-T 9×AC**
15375896-A-C 13264016-A-C **
15424221-C-T 13312341-C-T **
15743153-T-G 13631273-T-G **
15743522-G-A 13631642-G-A Y138727 **
15746214-G-T 13634334-G-T **
15832190-T-C 13720310-T-C **
15871587-C-A 13759707-C-A **
16095157-T-C 13983277-T-C **
16392254-C-A 14280374-C-A **
16428200-G-T 14316320-G-T **
16463875-C-A 14351995-C-A **
16602842-C-A 14490962-C-A **
16760145-G-A 14648265-G-A **
16972035-G-T 14860155-G-T **
17039129-C-A 14927249-C-A **
17821842-A-G 15709962-A-G **
17832445-C-A 15720565-C-A **
17956056-CTTTT-C 15844176-CTTTT-C 13×T**
18305904-A-C 16194024-A-C P6_Prx **
18368612-A-G 16256732-A-G P6_Prx **
18766704-T-G 16654824-T-G **
18831677-C-A 16719797-C-A **
18855505-T-G 16743625-T-G **
18913354-G-T 16801474-G-T **
18913375-G-T 16801495-G-T **
18955697-C-A 16843817-C-A **
18993317-C-A 16881437-C-A **
19043954-G-T 16932074-G-T Y138762 **
19318350-A-C 17206470-A-C **
19391259-C-A 17279379-C-A Y104593 **
19461385-T-A 17349505-T-A Y138716 **
19609583-C-T 17497703-C-T P5_Prx **
20207099-T-A 18045213-T-A P5_Dst **
20207128-T-A 18045242-T-A P5_Dst **
20207132-T-A 18045246-T-A P5_Dst **
20516580-G-A 18354694-G-A P5_Dst **
21015059-AAGAGAG-A 18853173-AAGAGAG-A P4_Dst 9×AG**
21149293-G-A 18987407-G-A **
21154479-C-A 18992593-C-A **
21238199-C-A 19076313-C-A FT43547 **
21262742-T-G 19100856-T-G **
21920648-C-A 19758762-C-A **
22288065-A-G 20126179-A-G BY216223 DYZ19 **
22484651-T-G 20322765-T-G DYZ19 **
22732726-A-C 20570840-A-C **
22843868-G-T 20681982-G-T **
23352248-C-A 21190362-C-A **
24001268-G-T 21855121-G-T **
24614140-G-T 22467993-G-T P3_t2 **
26148420-A-T 24002273-A-T P1_Y1 **
27219729-G-T 25073582-G-T P1_g3 **
27616478-C-T 25470331-C-T P1_Y2 **
27971759-ACACAC-A 25825612-ACACAC-A P1_Y2 **
28155844-G-T 26009697-G-T P1_b4 **
28523492-C-A 26377345-C-A **
56833742-C-G **
56833747-C-T **
56833761-G-A **
56836156-C-A **
13456259-ACTTCC-A,CCTTCA 11300583-ACTTCC-A,CCTTCA ***
13453454-TATTCC-T 11297778-TATTCC-T 11×ATTCC***
13463381-A-C 11307705-A-C ***
18829335-CAT-C 16717455-CAT-C ***
58979920-G-T 56833773-G-T ***
13458663-T-A 11302987-T-A ***
21468743-G-T 19306857-G-T F24338 ***
22849491-CTT-C,CT 20687605-CTT-C,CT 20×T***
13808729-G-T 11688023-G-T ***
13489123-GATGAGCTCCTGG-G,GATGAGCTCCTGC 11333447-GATGAGCTCCTGG-G,GATGAGCTCCTGC ***
11014442-C-G ***
9029736-CTT-C,CT 9192127-CTT-C,CT 16×T***
10992736-C-A ***
10033501-C-A 10195892-C-A ***
13483067-T-C 11327391-T-C ***
21043085-C-A 18881199-C-A ***
16492829-G-T 14380949-G-T ***
19523577-C-A 17411697-C-A ***
10999908-C-A ***
9111564-G-T 9273955-G-T ***
13273262-C-A 11117586-C-A ***
13488649-GT-AT,G 11332973-GT-AT,G ***
6943992-C-A 7075951-C-A ***
10013514-C-A 10175905-C-A ***
15249097-C-A 13137183-C-A ***
3131087-A-G 3263046-A-G ***
7426296-C-A 7558255-C-A ***
7953422-T-C 8085381-T-C ***
8293996-A-G 8425955-A-G ***
8648172-GATATATAT-G,GATATAT 8780131-GATATATAT-G,GATATAT 14×AT***
10035357-C-A 10197748-C-A ***
10999886-T-G ***
10999909-C-G ***
13458526-C-A 11302850-C-A ***
13465327-C-A 11309651-C-A ***
13673953-C-A 11518277-C-A ***
14035830-C-A 11915124-C-A ***
14488389-T-C 12367658-T-C ***
14767018-CTT-C,CT 12655087-CTT-C,CT 14×T***
15744090-G-A 13632210-G-A ***
17294654-C-A 15182774-C-A ***
18759036-C-A 16647156-C-A ***
56832700-A-ACTGCA,ACTGCACTCCT ***
56833771-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.