Bernardini

BigY2: 384564
MDKA Birth: Italy

Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > Z56 > BY3548 > Z43/S366 > Z144 > BY3951 > BY3961 > Z72

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
384564
9788315-G-A 9950706-G-A Z4872 YA*
22290713-G-C 20128827-G-C DYZ19 A*
19842888-C-T 17731008-C-T P5_Prx A*
24281389-A-G 22135242-A-G P3_t1 A*
25862044-A-G 23715897-A-G P1_Y1 A*
2890255-G-A 3022214-G-A Y60464 YY+
8854597-C-T 8986556-C-T Y64618 YY+
8900578-G-A 9032537-G-A Y64707 Y+
13652881-T-C 11497205-T-C BY87133 DYZ17 +
13799274-C-T 11678568-C-T BY89935 DYZ17 +
14169861-C-T 12049155-C-T Y66082 YY+
14603140-A-G 12491342-A-G Y66971 YY+
15206332-G-A 13094418-G-A Y67865 YY+
15259555-G-A 13147639-G-A Y67953 YY+
15554864-A-G 13442984-A-G S6466 YY+
16669497-C-T 14557617-C-T Y70300 YY+
17022904-C-T 14911024-C-T FT59005Y97977 YY+
17533062-A-G 15421182-A-G Y71865 YY+
17958769-C-T 15846889-C-T Y72733 YY+
18405956-G-T 16294076-G-T Y73509 P6_Gap +
18526658-C-T 16414778-C-T BY122017 P6_Dst +
19470472-C-T 17358592-C-T Y75413 YY+
21715575-A-T 19553689-A-T BY134919 YY+
21991748-T-G 19829862-T-G Y77545 YY+
22526145-T-C 20364259-T-C Y78146 Y+
17601-C-A +
17604-C-T +
18743597-TCTAC-T 16631717-TCTAC-T *
22281501-G-T 20119615-G-T DYZ19 *
22319213-T-A 20157327-T-A DYZ19 *
16365135-AATAGATAGATAG-A 14253255-AATAGATAGATAG-A 9×ATAG**
28742628-A-T 26596481-A-T CTS12894 **
22297994-G-T 20136108-G-T BY216617 DYZ19 **
18937531-T-G 16825651-T-G **
22176822-C-A 20014936-C-A **
6610714-G-A 6742673-G-A PF2838 **
15429447-C-A 13317567-C-A **
17446814-C-T 15334934-C-T **
22033521-C-A 19871635-C-A BY36567 **
17143949-C-T 15032069-C-T **
13272208-G-A 11116532-G-A **
16427343-C-A 14315463-C-A **
19377106-AGAAG-A 17265226-AGAAG-A 4×GAAG**
7334008-C-A 7465967-C-A **
22537299-T-A 20375413-T-A **
22297991-T-A 20136105-T-A DYZ19 **
16077534-TC-T 13965654-TC-T **
24376232-G-A 22230085-G-A **
15193419-C-A 13081505-C-A **
14405775-C-A 12285072-C-A **
21698342-C-A 19536456-C-A **
2980332-C-A 3112291-C-A **
17402246-C-A 15290366-C-A **
6238157-T-A 6370116-T-A IR3_Dst **
18499929-A-AC 16388049-A-AC P6_Dst **
10887995-T-C **
10888016-C-G **
14887890-C-A 12775956-C-A **
14385288-C-A 12264584-C-A **
10893928-C-A **
16177248-C-A 14065368-C-A **
15180120-G-T 13068206-G-T **
8052638-C-A 8184597-C-A **
10760744-A-G **
4371986-C-A 4503945-C-A **
10045407-C-A 10207798-C-A **
5490018-C-A 5621977-C-A **
4951846-T-A 5083805-T-A **
6780678-C-A 6912637-C-A **
13266492-C-A 11110816-C-A **
28614824-C-A 26468677-C-A **
15911541-C-A 13799661-C-A **
8341749-C-A 8473708-C-A **
56887111-A-AGTTGTT 10×GTT**
13588224-ATTT-A 11432548-ATTT-A 12×T**
14348021-C-A 12227316-C-A **
21361817-C-A 19199931-C-A **
17143994-C-T 15032114-C-T **
11027404-C-A **
9504035-C-A 9666426-C-A **
56841317-C-A **
19449254-C-A 17337374-C-A **
3686555-G-T 3818514-G-T **
7141028-C-A 7272987-C-A **
14099899-C-A 11979193-C-A **
14443028-C-A 12322301-C-A **
8008852-C-A 8140811-C-A **
19202925-TC-T 17091045-TC-T **
10973658-A-T **
2795048-C-A 2927007-C-A **
14188069-C-A 12067363-C-A **
18354429-G-T 16242549-G-T P6_Prx **
17029232-A-G 14917352-A-G **
21672288-C-A 19510402-C-A **
7206834-G-A 7338793-G-A **
6149859-C-A 6281818-C-A IR3_Dst **
5107904-C-A 5239863-C-A **
18984015-A-C 16872135-A-C **
18972096-G-A 16860216-G-A **
7111991-C-A 7243950-C-A **
4063200-C-A 4195159-C-A **
10876551-C-A **
24304-C-T **
14022013-C-A 11901307-C-A **
13454742-C-A 11299066-C-A **
15358689-C-A 13246808-C-A **
56841304-G-C **
56841319-G-A **
56841320-A-C **
5411887-C-A 5543846-C-A **
10960409-C-A **
24922371-CA-C 22776224-CA-C g1 9×A**
26276099-C-A 24129952-C-A P1_Y1 **
2906629-C-A 3038588-C-A **
56830242-CCATTG-C **
8911723-G-T 9043682-G-T **
21818819-C-A 19656933-C-A **
15743016-C-A 13631136-C-A **
6878804-C-A 7010763-C-A **
22429640-A-G 20267754-A-G DYZ19 **
23098783-C-A 20936897-C-A **
3178953-C-A 3310912-C-A **
13513013-C-A 11357337-C-A **
2773997-C-T 2905956-C-T **
2845770-C-A 2977729-C-A **
2855472-T-C 2987431-T-C **
2858096-G-T 2990055-G-T **
3051843-C-A 3183802-C-A **
3165174-G-T 3297133-G-T **
3166463-A-G 3298422-A-G FT362181 **
3275573-G-T 3407532-G-T **
3299111-G-T 3431070-G-T **
3323763-G-T 3455722-G-T **
3334342-G-A 3466301-G-A **
3354139-G-T 3486098-G-T FT58945 **
3477908-G-C 3609867-G-C **
3492645-CT-C 3624604-CT-C **
3544638-C-A 3676597-C-A **
3640295-G-T 3772254-G-T **
3804462-A-G 3936421-A-G **
3853644-T-C 3985603-T-C **
3961634-A-T 4093593-A-T **
3965334-G-C 4097293-G-C **
3975867-C-A 4107826-C-A **
3982901-G-T 4114860-G-T **
4004731-G-T 4136690-G-T **
4008574-C-T 4140533-C-T **
4097062-C-A 4229021-C-A **
4109231-G-T 4241190-G-T **
4114774-C-A 4246733-C-A **
4216188-G-T 4348147-G-T **
4216250-G-T 4348209-G-T **
4302885-C-T 4434844-C-T **
4321355-G-T 4453314-G-T **
4341456-A-G 4473415-A-G **
4387352-C-T 4519311-C-T **
4388026-A-G 4519985-A-G **
4417550-G-C 4549509-G-C **
4417635-G-T 4549594-G-T **
4448631-A-G 4580590-A-G **
4457783-C-A 4589742-C-A **
4523146-G-T 4655105-G-T **
4632709-GT-G 4764668-GT-G 9×T**
4800598-G-T 4932557-G-T **
4810628-C-A 4942587-C-A **
4858413-G-T 4990372-G-T **
4879316-G-T 5011275-G-T **
4889271-T-G 5021230-T-G **
4931530-G-A 5063489-G-A **
4953879-G-T 5085838-G-T **
4968285-C-A 5100244-C-A **
5059631-G-A 5191590-G-A FT322580 **
5135170-C-A 5267129-C-A **
5249179-G-T 5381138-G-T **
5276719-C-A 5408678-C-A **
5286246-C-A 5418205-C-A **
5307750-T-C 5439709-T-C **
5340411-C-A 5472370-C-A **
5446951-C-A 5578910-C-A **
5449366-C-A 5581325-C-A **
5627645-C-A 5759604-C-A **
5630919-C-A 5762878-C-A **
5676863-C-A 5808822-C-A **
5729381-C-A 5861340-C-A **
5784724-G-T 5916683-G-T **
5797160-C-A 5929119-C-A **
5799868-C-A 5931827-C-A **
5856166-G-T 5988125-G-T **
5856271-G-T 5988230-G-T **
5910328-C-A 6042287-C-A **
5911328-G-T 6043287-G-T **
5967474-A-G 6099433-A-G **
6038036-C-A 6169995-C-A **
6092263-A-G 6224222-A-G **
6092345-A-C 6224304-A-C **
6183299-A-G 6315258-A-G IR3_Dst **
6414468-C-A 6546427-C-A **
6528025-A-G 6659984-A-G **
6585083-AATGGCTAAAATATAT-A 6717042-AATGGCTAAAATATAT-A **
6776262-C-T 6908221-C-T **
6828373-A-C 6960332-A-C **
6868934-C-A 7000893-C-A FT178763 **
6918232-C-A 7050191-C-A **
6930053-G-A 7062012-G-A **
6944953-A-G 7076912-A-G **
6944967-A-C 7076926-A-C **
6957679-A-G 7089638-A-G **
6996792-A-G 7128751-A-G **
7038668-C-T 7170627-C-T **
7058752-C-A 7190711-C-A **
7075902-T-C 7207861-T-C **
7102482-C-A 7234441-C-A **
7204908-A-C 7336867-A-C **
7337187-G-T 7469146-G-T **
7378397-A-G 7510356-A-G **
7469861-T-A 7601820-T-A IR1_L **
7524746-T-C 7656705-T-C **
7580087-T-C 7712046-T-C **
8040129-G-T 8172088-G-T **
8130482-A-G 8262441-A-G **
8238379-T-C 8370338-T-C **
8456648-C-A 8588607-C-A **
8768557-C-A 8900516-C-A **
8776777-C-A 8908736-C-A **
8848098-C-A 8980057-C-A **
9112839-G-T **
9048078-C-G 9210469-C-G **
9048079-C-G 9210470-C-G **
9500924-G-A 9663315-G-A **
9747628-C-T 9910019-C-T **
9806822-A-T 9969213-A-T **
9892436-C-A 10054827-C-A **
9983137-C-A 10145528-C-A **
9991211-G-A 10153602-G-A **
10013720-G-T 10176111-G-T **
10625774-C-A **
10652863-T-C **
10687070-G-A **
10691390-TCCATTCCATTC-T **
10693797-T-A **
10747027-C-A **
10753130-C-A **
10765405-C-A **
10766938-C-A **
10773450-C-A **
10776624-C-T **
10781226-C-A **
10791878-G-A **
10792002-C-A **
10796671-CC-GTATTTGGGTTA **
10816558-A-G **
10831946-C-A **
10836183-C-A **
10844979-A-T **
10855619-G-T **
10858542-C-T **
10864718-C-A **
10875605-T-C **
10886181-CA-C **
10893708-C-A **
10924628-G-T **
10945204-TC-T **
10955138-C-A **
10973602-C-A **
10973624-T-C **
10973669-T-A **
10997007-T-C **
11032797-C-A **
11032802-G-A **
13216594-G-A 11060918-G-A **
13277289-T-C 11121613-T-C **
13293705-C-T 11138029-C-T **
13308843-C-A 11153167-C-A **
13313043-T-A 11157367-T-A **
13316040-C-A 11160364-C-A **
13435792-C-A 11280116-C-A **
13457746-C-A 11302070-C-A **
13471106-G-A 11315430-G-A **
13485779-T-G 11330103-T-G **
13560828-A-C 11405152-A-C **
13560892-G-T 11405216-G-T **
13640556-C-A 11484880-C-A **
11649105-G-T DYZ17 **
11649129-C-G DYZ17 **
11663710-A-G DYZ17 **
13871896-C-A 11751190-C-A **
13893429-G-C 11772723-G-C **
13934991-C-A 11814285-C-A **
13987306-T-C 11866600-T-C **
13989150-T-G 11868444-T-G **
13989197-C-G 11868491-C-G **
14050773-T-G 11930067-T-G **
14073267-A-T 11952561-A-T **
14077799-C-A 11957093-C-A **
14152186-C-A 12031480-C-A **
14195102-G-T 12074396-G-T **
14204983-C-A 12084277-C-A **
14234675-T-A 12113969-T-A **
14295201-C-A 12174495-C-A **
14364229-A-G 12243524-A-G **
14371283-C-A 12250579-C-A **
14395182-A-C 12274478-A-C **
14405772-A-G 12285069-A-G **
14452227-C-G 12331500-C-G FT186523 **
14515750-C-A 12403951-C-A **
14627228-G-T 12515296-G-T **
14740813-G-T 12628881-G-T **
14780905-C-A 12668975-C-A **
14792791-C-A 12680862-C-A **
14798716-C-A 12686787-C-A **
14882241-C-A 12770309-C-A **
15111615-C-G 12999702-C-G **
15149805-C-A 13037892-C-A **
15161117-T-C 13049203-T-C **
15178913-A-T 13066999-A-T **
15305815-C-A 13193914-C-A **
15380052-T-A 13268172-T-A **
15382908-C-A 13271028-C-A **
15581153-G-A 13469273-G-A FT153990 **
15593137-G-A 13481257-G-A FT382875 **
15648930-C-A 13537050-C-A **
15649876-T-C 13537996-T-C **
15735819-G-C 13623939-G-C **
15742988-T-G 13631108-T-G **
15894024-T-C 13782144-T-C **
15894043-C-G 13782163-C-G **
15918734-C-A 13806854-C-A **
15932411-A-T 13820531-A-T **
15944328-T-G 13832448-T-G **
16005521-C-A 13893641-C-A **
16021912-G-T 13910032-G-T **
16030976-G-T 13919096-G-T **
16038844-T-A 13926964-T-A **
16065297-C-A 13953417-C-A **
16071004-G-T 13959124-G-T FT169152 **
16071834-A-G 13959954-A-G **
16093012-C-A 13981132-C-A **
16176570-C-G 14064690-C-G **
16261000-C-A 14149120-C-A **
16288685-C-A 14176805-C-A **
16488145-T-A 14376265-T-A **
16491465-C-A 14379585-C-A **
16505063-C-G 14393183-C-G **
16612342-C-A 14500462-C-A **
16648382-CT-C 14536502-CT-C **
16653997-G-C 14542117-G-C **
16666990-C-A 14555110-C-A **
16667046-G-A 14555166-G-A **
16701627-A-T 14589747-A-T **
16717306-C-A 14605426-C-A **
16765419-C-G 14653539-C-G **
16843039-T-C 14731159-T-C **
17035043-G-C 14923163-G-C **
17090694-A-G 14978814-A-G **
17104118-C-A 14992238-C-A **
17143931-C-T 15032051-C-T **
17143969-C-A 15032089-C-A **
17143972-G-C 15032092-G-C **
17144014-T-C 15032134-T-C **
17144017-T-C 15032137-T-C **
17213111-C-A 15101231-C-A **
17224279-G-T 15112399-G-T **
17244513-G-T 15132633-G-T **
17309922-C-A 15198042-C-A **
17374907-T-A 15263027-T-A **
17380705-A-C 15268825-A-C **
17426668-A-G 15314788-A-G **
17544609-C-A 15432729-C-A **
17606171-G-T 15494291-G-T **
17728583-C-A 15616703-C-A **
17832478-A-C 15720598-A-C **
17843116-G-A 15731236-G-A **
17889940-C-A 15778060-C-A **
17889950-C-A 15778070-C-A **
17923827-A-G 15811947-A-G **
18057235-T-C 15945355-T-C **
18173100-A-G 16061220-A-G **
18354427-G-A 16242547-G-A P6_Prx **
18499907-A-C 16388027-A-C P6_Dst **
18499926-G-T 16388046-G-T P6_Dst **
18522404-G-T 16410524-G-T P6_Dst **
18539261-C-T 16427381-C-T **
18577079-C-A 16465199-C-A **
18628219-C-A 16516339-C-A **
18751955-CT-C 16640075-CT-C **
18794241-C-A 16682361-C-A **
18848463-G-C 16736583-G-C **
18937521-C-T 16825641-C-T **
18937526-A-T 16825646-A-T **
19035869-C-G 16923989-C-G **
19041301-G-A 16929421-G-A **
19062196-C-A 16950316-C-A **
19065176-G-T 16953296-G-T **
19071328-C-A 16959448-C-A **
19088606-C-A 16976726-C-A **
19251480-A-G 17139600-A-G **
19302739-G-T 17190859-G-T **
19304772-C-A 17192892-C-A **
19391295-A-T 17279415-A-T **
19412732-T-G 17300852-T-G **
19416412-G-A 17304532-G-A **
19591415-T-C 17479535-T-C P5_Prx **
20570330-C-A 18408444-C-A P5_Dst **
20839567-T-C 18677681-T-C P4_Gap **
21139447-T-A 18977561-T-A **
21139583-G-A 18977697-G-A **
21220905-T-C 19059019-T-C **
21315102-A-G 19153216-A-G **
21569955-C-T 19408069-C-T SK2196 **
21624520-C-A 19462634-C-A **
21668726-A-G 19506840-A-G **
21700471-C-G 19538585-C-G **
21713436-A-C 19551550-A-C **
21823983-A-T 19662097-A-T **
22063897-T-G 19902011-T-G **
22084724-C-G 19922838-C-G **
22122225-C-A 19960339-C-A **
22165167-C-A 20003281-C-A **
22229659-C-A 20067773-C-A DYZ19 **
22346305-C-A 20184419-C-A DYZ19 **
22587183-C-A 20425297-C-A **
22619392-C-A 20457506-C-A **
22755955-G-C 20594069-G-C Y78606 **
22884863-C-A 20722977-C-A **
22890134-C-A 20728248-C-A **
23120065-C-T 20958179-C-T BY143103 **
23198082-T-C 21036196-T-C **
23204452-T-C 21042566-T-C **
23381066-G-A 21219180-G-A **
23440465-C-A 21278579-C-A **
23460470-C-A 21298584-C-A **
23522495-A-T 21360609-A-T **
23741906-C-T 21580020-C-T **
23953258-C-A 21807111-C-A **
24405423-G-T 22259276-G-T **
24409268-G-T 22263121-G-T **
24458721-C-A 22312574-C-A **
26059257-A-C 23913110-A-C P1_Y1 **
26099991-C-A 23953844-C-A P1_Y1 **
26101668-G-T 23955521-G-T P1_Y1 **
27583314-G-C 25437167-G-C P1_Y2 **
27701849-C-A 25555702-C-A P1_Y2 **
27708632-A-T 25562485-A-T P1_Y2 **
27708642-A-AT 25562495-A-AT P1_Y2 **
27810348-G-T 25664201-G-T P1_Y2 **
28049623-TTG-T 25903476-TTG-T P1_Y2 **
28465227-G-C 26319080-G-C FT27056 **
28496917-C-A 26350770-C-A **
28500026-T-G 26353879-T-G **
28500060-T-C 26353913-T-C **
28505384-A-C 26359237-A-C **
28508232-G-T 26362085-G-T **
28546892-C-A 26400745-C-A **
28622114-C-A 26475967-C-A **
28656753-C-G 26510606-C-G **
28660801-G-A 26514654-G-A **
28694709-C-A 26548562-C-A **
28711517-A-G 26565370-A-G **
28727848-C-A 26581701-C-A **
28764224-T-C 26618077-T-C **
28780236-C-A 26634089-C-A **
28782863-A-T 26636716-A-T **
56685528-G-T **
56844532-T-C **
56852724-C-A **
56868825-G-T **
56870222-T-C **
56886357-C-T **
10980653-C-G ***
56830286-T-C ***
10892524-A-G ***
10958306-A-T ***
10744312-C-A ***
13458034-TCCA-T 11302358-TCCA-T ***
13458041-TGG-T 11302365-TGG-T ***
10807238-CA-C,CT ***
13456617-C-G 11300941-C-G ***
56830311-G-A,C ***
10980645-C-G ***
23368831-C-A 21206945-C-A ***
56841346-A-C ***
7106653-TAA-T 7238612-TAA-T 14×A***
2697292-C-A 2829251-C-A ***
2763793-ACC-A,CC 2895752-ACC-A,CC ***
4218696-G-T 4350655-G-T ***
6510282-G-T 6642241-G-T ***
6712502-G-T 6844461-G-T ***
7078507-G-A 7210466-G-A ***
7519155-AG-A 7651114-AG-A ***
8385186-C-A 8517145-C-A ***
9700373-C-A 9862764-C-A IR3_Prx ***
10029278-C-A 10191669-C-A ***
10747005-T-C ***
10796122-C-T ***
10796648-A-G ***
10809634-C-CA ***
11019016-C-A ***
13213683-G-T 11058007-G-T ***
13847334-GA-G 11726628-GA-G DYZ17 ***
13854433-C-A 11733727-C-A DYZ17 ***
14470565-C-A 12349834-C-A ***
14509829-G-T 12398034-G-T ***
16042654-T-A 13930774-T-A ***
16520898-C-A 14409018-C-A ***
16609459-C-A 14497579-C-A ***
16915168-T-C 14803288-T-C ***
17871094-C-A 15759214-C-A ***
18857560-C-A 16745680-C-A ***
19418524-TAA-T,TA 17306644-TAA-T,TA 12×A***
21323481-A-G 19161595-A-G ***
21402409-C-A 19240523-C-A ***
21528347-A-G 19366461-A-G ***
22055570-C-A 19893684-C-A Y108265 ***
22078395-C-A 19916509-C-A ***
22278379-T-A 20116493-T-A DYZ19 ***
22509474-C-G 20347588-C-G DYZ19 ***
22598745-CAAAA-C,CAA 20436859-CAAAA-C,CAA 15×A***
22855256-G-T 20693370-G-T ***
28462090-C-A 26315943-C-A ***
56830765-T-A ***
56842441-A-C,T ***

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.