Richard

BigY2: 456973
MDKA Birth: France

Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > Z195/S355 > Z272 > BY907 > S1322

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
456973
6228223-A-C 6360182-A-C IR3_Dst A*
13451361-T-C 11295685-T-C A*
19794486-C-T 17682606-C-T P5_Prx A*
22310240-C-A 20148354-C-A DYZ19 A*
25865515-C-T 23719368-C-T P1_Y1 A*
25902491-C-T 23756344-C-T P1_Y1 A*
25998878-A-G 23852731-A-G P1_Y1 A*
26393122-G-C 24246975-G-C P1_Y1 A*
26422876-G-A 24276729-G-A P1_Y1 A*
18870808-C-CT 16758928-C-CT 9×T+
7403243-C-T 7535202-C-T BY49870 YY+
19600439-GTA-G 17488559-GTA-G P5_Prx +
6576979-A-T 6708938-A-T BY60331 +
6835072-A-G 6967031-A-G BY61580 YY+
7109934-C-G 7241893-C-G BY63376 YY+
8166089-C-T 8298048-C-T BY70452 YY+
8541065-C-T 8673024-C-T BY73837 YY+
9817898-T-C 9980289-T-C BY49917 YY+
9878819-T-C 10041210-T-C BY81716 YY+
14506244-C-T 12394449-C-T BY96222 YY+
14577699-C-T 12465899-C-T BY96554 YY+
14874813-G-A 12762883-G-A BY98157 YY+
15635380-G-T 13523500-G-T BY103035 YY+
16196711-T-C 14084831-T-C BY105920 YY+
16639057-T-C 14527177-T-C BY109156 YY+
16661659-A-G 14549779-A-G BY109304 YY+
16763361-T-C 14651481-T-C BY109919 YY+
17089453-T-A 14977573-T-A BY112208 YY+
17940992-T-A 15829112-T-A BY118581 YY+
19225032-G-A 17113152-G-A BY127436 YY+
21112687-C-G 18950801-C-G BY130488 YY+
21345768-T-C 19183882-T-C BY132265 YY+
21385591-A-G 19223705-A-G BY132497 YY+
21572218-T-A 19410332-T-A BY133991 YY+
21619747-G-T 19457861-G-T BY134256 YY+
21936130-G-T 19774244-G-T BY136567 YY+
21936146-C-T 19774260-C-T BY136568 YY+
22462826-G-A 20300940-G-A BY15379 DYZ19 *
22230129-T-C 20068243-T-C DYZ19 *
22233901-G-T 20072015-G-T DYZ19 *
22317426-T-C 20155540-T-C DYZ19 *
22345217-C-T 20183331-C-T FT455877 DYZ19 *
22462830-C-T 20300944-C-T DYZ19 *
22469536-C-G 20307650-C-G DYZ19 *
19646355-C-A 17534475-C-A P5_Prx **
10050146-A-T 10212537-A-T **
14143425-C-A 12022719-C-A BY202224 **
4957120-T-C 5089079-T-C FGC76 Z8146 **
19558107-C-A 17446227-C-A **
23425309-G-A 21263423-G-A **
22505043-G-A 20343157-G-A DYZ19 **
13267780-T-CCC 11112104-T-CCC **
15952677-G-T 13840797-G-T BY54782 15×T**
21464768-C-G 19302882-C-G FT452954 **
22916946-CAATA-C 20755060-CAATA-C BY20297 6×AATA**
58891018-T-C 56699853-A-G **
10842561-T-C **
10842579-CT-C **
10785312-C-A **
10885217-C-T **
13417309-C-A 11261633-C-A **
22309928-G-T 20148042-G-T BY164451 DYZ19 **
10654366-C-A **
10967550-T-C **
17301237-TC-T 15189357-TC-T **
56855741-C-A **
16666110-A-C 14554230-A-C **
10930026-T-C **
10930036-T-C **
10930047-T-A **
10930048-C-G **
10930054-C-A **
15671111-G-T 13559231-G-T **
16119963-C-CT 14008083-C-CT P8_Prx **
15081366-C-A 12969456-C-A **
10887359-A-G **
14062010-CAAA-C 11941304-CAAA-C 34×A**
10973653-A-T **
10768579-G-T **
13218000-C-A 11062324-C-A **
18933529-C-A 16821649-C-A **
10793221-ACTGCT-A **
11005541-T-G **
10669404-ATCTCC-A **
10945283-A-C **
10945292-G-T **
10945296-C-T **
16027787-C-A 13915907-C-A **
10945338-A-T **
10926253-T-G **
14712128-C-A 12600195-C-A **
11002075-T-C **
13551280-C-A 11395604-C-A **
10952527-C-T **
11007505-T-C **
10926151-A-C **
27791880-TTC-T 25645733-TTC-T P1_Y2 **
7004-C-A **
13480497-GT-G 11324821-GT-G **
13990093-C-A 11869387-C-A **
26124459-C-AA 23978312-C-AA P1_Y1 **
4778443-C-A 4910402-C-A **
10952537-T-C **
10952544-A-G **
9700804-TG-T 9863195-TG-T IR3_Prx **
14193002-C-A 12072296-C-A **
10765646-G-T **
17317438-T-G 15205558-T-G **
19231349-G-T 17119469-G-T **
10785287-C-T **
14356283-C-A 12235578-C-A **
17317425-C-CA 15205545-C-CA **
10841632-G-T **
23127523-C-A 20965637-C-A **
9307473-C-A 9469864-C-A **
10673655-G-A **
18768309-C-A 16656429-C-A **
10927045-G-T **
19537919-G-AT 17426039-G-AT **
27791952-T-C 25645805-T-C P1_Y2 **
5586719-C-A 5718678-C-A **
10929954-A-C **
10817964-C-A **
56838790-T-A **
22172878-C-A 20010992-C-A **
19370200-C-A 17258320-C-A **
7414274-TCTC-T 7546233-TCTC-T **
21163173-C-A 19001287-C-A **
10673606-C-T **
10659275-C-A **
17598074-C-A 15486194-C-A **
22125777-C-A 19963891-C-A **
11004523-G-T **
22230714-A-C 20068828-A-C DYZ19 **
56843675-G-T **
28587963-C-A 26441816-C-A **
14464329-C-A 12343602-C-A **
4557310-C-A 4689269-C-A **
10912134-A-T **
10912141-A-C **
11006439-C-A **
14354540-C-A 12233835-C-A **
11005478-C-G **
10685754-CTCCAT-C **
10952517-T-C **
3833482-C-T 3965441-C-T **
13486797-G-A 11331121-G-A **
14012235-C-A 11891529-C-A **
9839406-C-A 10001797-C-A **
13493306-C-A 11337630-C-A **
10687801-G-T **
13433176-C-A 11277500-C-A **
10998000-C-A **
4567813-G-T 4699772-G-T **
6992593-C-A 7124552-C-A **
10829332-C-A **
10862304-C-A **
10785288-C-CAATAA **
15767134-C-A 13655254-C-A **
21488640-C-A 19326754-C-A **
15776717-C-A 13664837-C-A **
27791895-T-C 25645748-T-C P1_Y2 **
27791906-CT-C 25645759-CT-C P1_Y2 **
27791913-T-C 25645766-T-C P1_Y2 **
27791919-T-C 25645772-T-C P1_Y2 **
27791920-T-G 25645773-T-G P1_Y2 **
27791925-T-C 25645778-T-C P1_Y2 **
27791929-T-TCCG 25645782-T-TCCG P1_Y2 **
27791934-T-C 25645787-T-C P1_Y2 **
27791938-T-TCCG 25645791-T-TCCG P1_Y2 **
27791941-T-TCCG 25645794-T-TCCG P1_Y2 **
27633693-G-T 25487546-G-T P1_Y2 **
31638-G-A **
11005472-C-A **
21827873-C-A 19665987-C-A **
10922083-C-A **
11027388-C-A **
10888605-C-T **
13486760-T-C 11331084-T-C **
13486764-G-A 11331088-G-A **
13486765-A-C 11331089-A-C **
2665676-A-C 2797635-A-C **
10839780-A-T **
10949723-C-A **
6210400-G-T 6342359-G-T IR3_Dst **
10933231-A-T **
21961771-C-A 19799885-C-A **
10764819-T-G **
10673656-C-A **
16451619-C-A 14339739-C-A **
10837373-G-T **
13480664-C-A 11324988-C-A **
6279811-AG-A 6411770-AG-A IR3_Dst **
21368731-C-A 19206845-C-A **
15790514-C-A 13678634-C-A **
17170345-T-G 15058465-T-G **
10889122-C-A **
10028568-C-A 10190959-C-A **
11007542-C-T **
28733421-G-T 26587274-G-T **
10967498-C-A **
2665671-C-G 2797630-C-G **
2665679-TTG-A 2797638-TTG-A **
2665685-T-G 2797644-T-G **
2665689-G-A 2797648-G-A **
3012181-C-A 3144140-C-A **
3105234-C-T 3237193-C-T **
3164645-C-A 3296604-C-A **
3833466-T-C 3965425-T-C **
3833471-C-T 3965430-C-T **
3833475-G-A 3965434-G-A **
3833485-A-C 3965444-A-C **
4136985-C-A 4268944-C-A **
4295905-A-G 4427864-A-G **
4344636-TTCA-T 4476595-TTCA-T **
4388718-T-C 4520677-T-C FT44832 **
4801188-C-A 4933147-C-A **
5017236-G-T 5149195-G-T **
5060271-C-A 5192230-C-A **
5405472-C-A 5537431-C-A **
5527496-C-A 5659455-C-A **
5690976-G-T 5822935-G-T **
5794344-C-A 5926303-C-A **
5879323-G-T 6011282-G-T **
6083567-A-C 6215526-A-C **
6279825-C-A 6411784-C-A IR3_Dst **
6338112-A-T 6470071-A-T IR3_Dst **
6532304-C-A 6664263-C-A **
6533266-C-A 6665225-C-A **
6720926-G-A 6852885-G-A **
6807037-C-A 6938996-C-A **
6953769-T-A 7085728-T-A **
7007117-G-A 7139076-G-A **
7088015-G-A 7219974-G-A **
7225372-T-G 7357331-T-G **
7231044-A-C 7363003-A-C **
7615168-C-A 7747127-C-A **
8216525-C-T 8348484-C-T **
8341800-A-G 8473759-A-G **
8821911-C-A 8953870-C-A **
8914863-G-T 9046822-G-T **
9042394-C-A 9204785-C-A **
9042447-A-G 9204838-A-G **
9063594-C-A 9225985-C-A **
9510761-CCTGA-C 9673152-CCTGA-C **
9649513-T-C 9811904-T-C IR3_Prx **
9714551-C-A 9876942-C-A IR3_Prx **
9852799-C-A 10015190-C-A **
9962437-G-A 10124828-G-A **
10050145-T-G 10212536-T-G **
10663047-T-A **
10664990-G-C **
10670948-T-G **
10672449-C-A **
10673603-A-T **
10673605-T-C **
10673612-CA-C **
10673622-T-TA **
10750216-C-A **
10751480-A-G **
10828991-T-C **
10843745-C-A **
10843760-CACT-C **
10857094-C-A **
10861310-G-A **
10865584-C-A **
10873322-C-T **
10882885-C-A **
10925966-C-A **
10926136-C-T **
10926140-T-A **
10926153-G-C **
10929953-T-C **
10934451-C-A **
10939857-C-G **
10939865-A-T **
10940057-T-A **
10942866-C-A **
10952546-A-T **
10952554-C-A **
10952567-T-A **
10956092-C-A **
10963013-C-A **
10973626-C-G **
10990660-GTTCCCAT-G **
10996655-A-G **
13267754-G-T 11112078-G-T **
13267801-C-T 11112125-C-T **
13327652-G-A 11171976-G-A **
13333536-A-G 11177860-A-G **
13612010-T-G 11456334-T-G **
13856153-G-T 11735447-G-T **
13874604-G-C 11753898-G-C **
13910004-C-A 11789298-C-A **
14143945-C-G 12023239-C-G **
14468394-A-C 12347663-A-C **
14558050-G-T 12446251-G-T **
14620943-G-A 12509141-G-A **
14776053-A-T 12664122-A-T **
15114227-G-T 13002314-G-T **
15191078-C-A 13079164-C-A **
15305701-G-T 13193800-G-T **
15320629-G-A 13208735-G-A **
15446168-G-T 13334288-G-T **
15477566-A-G 13365686-A-G **
15477942-C-A 13366062-C-A **
15932433-C-A 13820553-C-A **
15947933-T-A 13836053-T-A **
16354271-A-T 14242391-A-T **
16656711-C-A 14544831-C-A **
16707119-A-C 14595239-A-C **
17103387-C-A 14991507-C-A **
17170218-T-C 15058338-T-C **
17170222-G-A 15058342-G-A **
17440592-C-A 15328712-C-A **
17504098-A-G 15392218-A-G **
17505151-C-A 15393271-C-A **
17628904-C-T 15517024-C-T **
17884069-C-A 15772189-C-A FT74136 **
18174911-G-T 16063031-G-T **
18206700-A-G 16094820-A-G **
18422596-C-A 16310716-C-A P6_Gap **
18621542-C-A 16509662-C-A **
18906510-C-A 16794630-C-A **
20689993-T-C 18528107-T-C P4_Prx **
21127318-C-A 18965432-C-A **
21148424-C-A 18986538-C-A **
21220995-G-T 19059109-G-T **
21244840-C-A 19082954-C-A **
21961764-C-A 19799878-C-A **
21993865-G-T 19831979-G-T **
22230726-C-G 20068840-C-G DYZ19 **
22579946-T-C 20418060-T-C **
22838829-G-A 20676943-G-A **
23425306-T-C 21263420-T-C **
23439901-T-A 21278015-T-A **
23465188-G-T 21303302-G-T **
23475436-T-C 21313550-T-C **
24280828-G-T 22134681-G-T P3_t1 **
24407295-G-T 22261148-G-T **
25998429-T-G 23852282-T-G P1_Y1 **
26059749-A-T 23913602-A-T P1_Y1 **
26220666-A-C 24074519-A-C P1_Y1 **
26220674-A-C 24074527-A-C P1_Y1 **
26220686-A-C 24074539-A-C P1_Y1 **
26220689-T-G 24074542-T-G P1_Y1 **
26565448-A-G 24419301-A-G P1_g2 **
26730286-T-A 24584139-T-A P1_g2 **
27952154-A-G 25806007-A-G P1_Y2 **
28666179-A-C 26520032-A-C **
28808539-G-T 26662392-G-T **
56699857-A-G **
56839860-T-C **
56843677-A-T **
56843718-A-T **
56851452-T-A **
56858505-G-A **
23289-T-C **
30607-C-G **
8462064-CAAAAAAA-C 8594023-CAAAAAAA-C 26×A***
10987219-T-C ***
22200355-CAAA-C 20038469-CAAA-C 13×A***
7195227-CAA-C,CAAA 7327186-CAA-C,CAAA 17×A***
56834444-ATTCCCTTCCATTCCA-A,ATTCCCTTCCATTCCT ***
10925935-C-G ***
10821852-CGTTCA-C,CATTCC ***
56825917-A-G,T ***
22951102-CTT-C,CT 20789216-CTT-C,CT 13×T***
10999910-A-T ***
10847100-T-A ***
21425339-CTTTT-C,CTT 19263453-CTTTT-C,CTT 24×T***
10973247-T-G FT294408 ***
17374432-AT-A 15262552-AT-A ***
13453280-G-C 11297604-G-C ***
10748231-C-CG ***
13857685-C-A 11736979-C-A ***
14181487-G-T 12060781-G-T ***
10889610-A-C ***
20865510-C-A 18703624-C-A P4_Dst ***
17353188-C-A 15241308-C-A ***
13922374-C-A 11801668-C-A ***
2668215-C-A 2800174-C-A ***
15687168-C-A 13575288-C-A ***
28817689-GAATGGA-G 26671542-GAATGGA-G ***
13565958-C-A 11410282-C-A ***
13453269-C-T 11297593-C-T ***
10825236-A-G ***
18832757-TAA-T 16720877-TAA-T 12×A***
9892659-C-A 10055050-C-A ***
8075694-C-A 8207653-C-A ***
8171150-C-A 8303109-C-A ***
10669412-TTCATT-T,TTCATTA ***
10677869-C-A ***
10826994-C-T ***
10927724-T-C ***
10988592-TTTCATTCCAC-T,TTTCATTCCAT ***
13255089-T-C 11099413-T-C ***
13720647-T-C 11564971-T-C ***
14627377-C-A 12515445-C-A ***
14766489-C-A 12654558-C-A ***
15057738-AT-A,ATTTT 12945830-AT-A,ATTTT 18×T***
16519296-G-T 14407416-G-T ***
18060384-G-GTC 15948504-G-GTC ***
18222352-C-A 16110472-C-A ***
19253245-C-A 17141365-C-A ***
21308202-C-A 19146316-C-A ***
21489261-G-A 19327375-G-A ***
22366294-C-A 20204408-C-A DYZ19 ***
22430425-A-C 20268539-A-C DYZ19 ***
22526131-G-A 20364245-G-A ***
22811263-T-C 20649377-T-C ***
23445131-C-A 21283245-C-A FT158308 ***
56827528-TTTCCTTTCCATTCCATTCCT-T,TTTCATTCCA ***

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.