Bismire

BigY2: 222670
MDKA Birth: England

Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > Z39589 > DF41/S524

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
222670
22231587-G-T 20069701-G-T ZS9578 DYZ19 A*
13451297-C-T 11295621-C-T A*
6233382-T-C 6365341-T-C IR3_Dst A*
16111149-A-G 13999269-A-G P8_Prx A*
16123552-A-G 14011672-A-G P8_Prx A*
18329691-T-G 16217811-T-G P6_Prx A*
14217275-C-T 12096569-C-T BY20735 YY+
2736514-C-T 2868473-C-T BY56131 YY+
7233708-C-T 7365667-C-T BY64066 YY+
7995806-T-C 8127765-T-C BY69273 YY+
8170522-T-A 8302481-T-A BY70467 YY+
8205647-C-T 8337606-C-T BY70731 YY+
9865824-G-C 10028215-G-C BY81589 YY+
13497997-A-C 11342321-A-C BY86282 +
13842916-A-G 11722210-A-G BY91178 +
13844525-G-C 11723819-G-C BY156363 +
14026845-T-G 11906139-T-G BY92420 YY+
14169222-G-C 12048516-G-C BY93477 YY+
14356576-T-G 12235871-T-G BY95162 YY+
14996264-C-T 12884349-C-T BY98971 YY+
15090490-C-T 12978579-C-T BY99675 YY+
16194853-T-C 14082973-T-C BY105903 YY+
16735787-A-G 14623907-A-G BY109681 YY+
16850279-A-T 14738399-A-T BY110558 YY+
18162637-A-G 16050757-A-G BY211757 YY+
18712933-A-C 16601053-A-C BY123328 YY+
21118014-C-T 18956128-C-T BY130524 YY+
21897285-T-G 19735399-T-G BY136298 YY+
22072651-C-T 19910765-C-T BY137430 YY+
22272056-C-G 20110170-C-G BY215312 DYZ19 +
22419821-G-A 20257935-G-A BY217739 DYZ19 +
22479978-G-A 20318092-G-A BY224351 DYZ19 +
22580724-A-C 20418838-A-C BY139250 YY+
22721888-G-A 20560002-G-A BY140304 YY+
23607171-A-C 21445285-A-C BY146663 YY+
6980089-CAAA-C 7112048-CAAA-C 17×A*
15491779-T-TGG 13379899-T-TGG *
15491781-T-G 13379901-T-G YY*
22253374-T-C 20091488-T-C DYZ19 *
22275795-C-G 20113909-C-G DYZ19 *
22280894-T-G 20119008-T-G DYZ19 *
22298491-T-A 20136605-T-A DYZ19 *
22304044-T-C 20142158-T-C DYZ19 *
22486394-T-A 20324508-T-A DYZ19 *
22769670-G-GTTT 20607784-G-GTTT *
18687686-T-A 16575806-T-A FGC9722FGC9755 ZS4150 **
13944048-C-T 11823342-C-T FT295875 **
16051020-TTC-T 13939140-TTC-T **
13718490-G-C 11562814-G-C **
22273542-CA-C 20111656-CA-C DYZ19 **
15647856-T-G 13535976-T-G **
13718515-G-T 11562839-G-T **
7310568-G-T 7442527-G-T **
11038155-T-G **
10820753-C-A **
10750980-C-A **
56749943-A-G **
10953401-G-C **
10691369-T-A **
14605880-A-C 12494082-A-C **
19704232-G-GT 17592352-G-GT P5_Prx **
16045037-C-A 13933157-C-A **
8288855-G-T 8420814-G-T **
10671043-T-A **
25617177-GT-G 23471030-GT-G P1_gr1 **
16590671-T-G 14478791-T-G **
13644862-C-A 11489186-C-A **
10976974-A-G **
13710338-G-T 11554662-G-T **
10824149-T-TC **
10824150-TC-T **
2812857-T-C 2944816-T-C **
27499304-C-A 25353157-C-A P1_Y2 **
2795584-G-T 2927543-G-T **
10789983-T-A **
56838784-A-C **
10927821-C-T **
15558174-C-A 13446294-C-A **
10849241-T-C **
10849253-C-T **
5449872-G-T 5581831-G-T **
11668793-C-A **
56838629-G-T **
10822647-TTTCCATTCCA-T **
19324291-C-A 17212411-C-A **
10952477-C-T **
10772661-CTTTCC-T **
56749925-G-A **
11036077-C-CTCCTCACCAG **
10820729-A-C **
10820766-A-C **
13894314-C-A 11773608-C-A **
8848291-C-A 8980250-C-A **
14698458-CAAAAAA-C 12586524-CAAAAAA-C 19×A**
10820764-A-T **
10656090-C-A **
10656100-A-G **
10656110-C-T **
18256200-C-A 16144320-C-A **
10783886-C-T **
56850415-T-A **
20199908-A-C 18038022-A-C P5_Dst **
22767328-C-A 20605442-C-A **
14788750-C-A 12676821-C-A **
3650767-G-T 3782726-G-T **
10911918-C-A **
5743174-C-A 5875133-C-A **
10766645-C-T **
24509386-C-A 22363239-C-A **
28798480-G-T 26652333-G-T **
13858560-G-A 11737854-G-A **
10844937-C-T **
14099801-C-A 11979095-C-A **
10889320-T-A **
9201281-A-G 9363672-A-G **
10766657-C-A **
10784101-T-A **
10784102-TCTGC-A **
14502008-C-A 12390213-C-A **
2744793-T-G 2876752-T-G **
3425103-G-T 3557062-G-T **
3825825-C-A 3957784-C-A **
3987193-C-A 4119152-C-A **
4063666-C-G 4195625-C-G **
4081853-A-C 4213812-A-C **
4142527-G-T 4274486-G-T **
4156399-A-T 4288358-A-T **
4496230-C-A 4628189-C-A **
4563551-A-G 4695510-A-G **
4842883-C-T 4974842-C-T **
4929103-A-C 5061062-A-C **
4944675-G-T 5076634-G-T **
5112559-G-T 5244518-G-T FTB39376 **
5534993-A-C 5666952-A-C FT100698 **
6028656-G-A 6160615-G-A **
6510291-C-T 6642250-C-T **
6578820-C-A 6710779-C-A **
7002503-T-C 7134462-T-C **
7045104-G-A 7177063-G-A **
7217355-T-G 7349314-T-G **
7446770-T-C 7578729-T-C IR1_L **
7489246-T-G 7621205-T-G IR1_L **
7578934-C-A 7710893-C-A **
8706036-T-G 8837995-T-G **
8786514-C-A 8918473-C-A **
9040758-G-A 9203149-G-A **
9116836-C-A 9279227-C-A **
9636614-G-CTGAGT 9799005-G-CTGAGT IR3_Prx **
9636625-T-TCTAG 9799016-T-TCTAG IR3_Prx **
10002197-A-C 10164588-A-C **
10004794-C-A 10167185-C-A **
10031185-C-A 10193576-C-A **
10057451-C-A 10219842-C-A **
10652977-C-G **
10654115-C-A **
10656128-C-T **
10656129-C-G **
10656131-C-T **
10658394-A-C **
10660799-C-A **
10663480-C-T **
10672068-C-A **
10678966-T-A **
10685809-T-G **
10689439-C-A **
10751953-G-A **
10756407-C-A **
10759620-T-G **
10764137-C-A **
10764549-T-TATTC **
10767658-T-A **
10773341-C-A **
10778068-A-T **
10783384-T-C **
10783894-T-TAATAC **
10783906-T-C **
10783914-C-G **
10784696-T-G **
10784727-C-A **
10796088-ATTCTG-A **
10800457-C-T **
10800459-T-C **
10802436-C-A **
10820723-T-C **
10820736-C-T **
10820738-T-C **
10827967-C-A **
10840991-C-A **
10842533-TC-T **
10849196-T-C **
10849235-A-C **
10856276-C-A **
10864634-A-C **
10864636-C-T **
10871059-C-T **
10880874-A-G **
10884950-T-C **
10884959-T-G **
10896281-A-T **
10913379-G-T **
10918029-G-T **
10918036-C-A **
10919067-A-C **
10920196-G-C **
10920198-G-GT **
10920201-A-C **
10920338-A-C **
10922481-T-G **
10927884-C-A **
10929379-T-G **
10931659-C-A **
10938379-T-C **
10947642-C-A **
10947648-ATTCTT-A **
10949570-CTCAA-C **
10949578-CA-G **
10950371-C-T **
10950476-C-G **
10950493-A-G **
10952475-C-T **
10952481-A-T **
10953414-C-T **
10955188-T-C **
10958917-G-T **
10962661-T-TG **
10975527-T-A **
10975543-C-T **
10976969-AT-A **
10976975-T-TG **
10985279-CGTTCA-C **
10985766-C-A **
10989402-ATTC-A **
10992287-A-AGTAAACTCCAC **
10993151-C-T **
10993359-C-A **
10998738-A-G **
11003336-C-T FGC77557 **
11007010-C-A **
11031585-C-A **
11032344-T-TA **
13290938-T-C 11135262-T-C **
13476182-GT-G 11320506-GT-G **
13480532-T-C 11324856-T-C **
13521203-C-T 11365527-C-T **
13596438-T-G 11440762-T-G **
11645838-G-T **
11652807-A-T **
11652819-G-C **
11652823-T-TACAAC **
11652868-TGGACA-T **
11652895-A-T **
11655111-GA-G **
11669582-A-G **
13811087-T-G 11690381-T-G **
13904149-A-C 11783443-A-C **
13944078-A-C 11823372-A-C **
13987139-G-C 11866433-G-C **
14147970-G-A 12027264-G-A **
14200784-A-T 12080078-A-T **
14344322-A-T 12223617-A-T **
14506856-A-C 12395061-A-C **
14560731-C-A 12448932-C-A **
14690718-G-T 12578784-G-T **
14743013-G-A 12631081-G-A **
14769286-G-A 12657355-G-A **
14769290-G-A 12657359-G-A **
14795239-C-A 12683310-C-A **
14795259-T-C 12683330-T-C **
15084639-C-A 12972729-C-A **
15157693-A-C 13045780-A-C **
15365074-A-C 13253194-A-C **
15367106-G-T 13255226-G-T **
15397640-A-C 13285760-A-C **
15420151-G-C 13308271-G-C **
15420163-T-A 13308283-T-A **
15775042-C-A 13663162-C-A **
15922772-G-T 13810892-G-T **
15936702-C-A 13824822-C-A **
16016996-C-A 13905116-C-A **
16114658-A-ATG 14002778-A-ATG P8_Prx **
16114665-T-TA 14002785-T-TA P8_Prx 9×TA**
16114670-T-TTCATATAC 14002790-T-TTCATATAC P8_Prx **
16114676-T-A 14002796-T-A P8_Prx **
16291937-T-C 14180057-T-C **
16384838-T-C 14272958-T-C **
16489996-C-A 14378116-C-A **
16590803-C-A 14478923-C-A **
16598929-C-A 14487049-C-A **
16624986-T-G 14513106-T-G **
16677215-TG-T 14565335-TG-T **
16931663-C-T 14819783-C-T **
16973600-T-G 14861720-T-G **
16998670-G-A 14886790-G-A **
17018730-C-A 14906850-C-A **
17320020-A-G 15208140-A-G **
17433954-C-T 15322074-C-T FGC36259 **
17569110-C-A 15457230-C-A **
17571935-C-A 15460055-C-A **
17584296-G-T 15472416-G-T **
17778242-C-A 15666362-C-A **
17843257-A-C 15731377-A-C **
17865431-G-T 15753551-G-T **
17918674-T-G 15806794-T-G **
18191618-T-G 16079738-T-G **
18471752-A-T 16359872-A-T P6_Dst **
18795013-A-C 16683133-A-C **
18966930-G-A 16855050-G-A **
19131551-C-A 17019671-C-A Y103746 **
19415496-C-A 17303616-C-A FT43405 **
19428652-G-T 17316772-G-T **
19670815-T-A 17558935-T-A P5_Prx **
19721186-T-G 17609306-T-G P5_Prx **
19759498-A-ATGTCTC 17647618-A-ATGTCTC P5_Prx **
19887258-T-G 17775378-T-G P5_Prx **
19887296-A-T 17775416-A-T P5_Prx **
20404445-CAAAAAAAAAAAA-C 18242559-CAAAAAAAAAAAA-C P5_Dst 29×A**
20409741-A-C 18247855-A-C P5_Dst **
20420131-C-G 18258245-C-G P5_Dst **
20440412-T-G 18278526-T-G P5_Dst **
21023247-TTG-T 18861361-TTG-T P4_Dst **
21155123-C-A 18993237-C-A **
21196722-A-G 19034836-A-G **
21201803-C-A 19039917-C-A **
21212817-T-G 19050931-T-G **
21338717-C-A 19176831-C-A **
21495489-A-G 19333603-A-G **
21586348-C-A 19424462-C-A **
21586494-G-C 19424608-G-C **
21602815-C-T 19440929-C-T **
22164444-A-G 20002558-A-G **
22170170-A-C 20008284-A-C **
22171230-G-T 20009344-G-T **
22309896-C-CAAAA 20148010-C-CAAAA DYZ19 **
22600371-T-C 20438485-T-C **
22638283-A-C 20476397-A-C **
22691068-T-C 20529182-T-C **
22783091-C-A 20621205-C-A **
23127925-A-C 20966039-A-C **
23142589-C-A 20980703-C-A **
23188435-C-A 21026549-C-A **
23263305-C-G 21101419-C-G **
23371900-A-G 21210014-A-G **
23807411-T-G 21645525-T-G **
23898965-G-A 21737079-G-A **
21754258-T-A **
24247416-C-CATA 22101269-C-CATA P3_b1 **
24253746-A-C 22107599-A-C P3_b1 **
24402343-G-C 22256196-G-C **
24405274-T-G 22259127-T-G **
24870830-A-G 22724683-A-G IR1_R **
25577035-G-T 23430888-G-T P1_gr1 **
27780466-A-G 25634319-A-G P1_Y2 **
28479152-T-G 26333005-T-G **
28479169-T-G 26333022-T-G **
28505197-A-C 26359050-A-C **
28505227-T-A 26359080-T-A **
28556261-G-A 26410114-G-A **
28791262-G-T 26645115-G-T **
28791350-A-C 26645203-A-C **
56707235-G-T **
56707286-A-G **
56747511-G-T **
56749910-G-C **
56749952-G-A **
56825542-A-C **
56838213-C-A **
56838229-C-G **
56838239-A-C **
56851482-G-T **
56851922-G-C **
11452-A-T **
11464-C-A **
23942-G-A **
14761163-T-C 12649232-T-C BY211510 ***
11001436-A-C,T ***
11005523-C-A ***
10973597-C-A ***
10926695-T-TGCAC ***
10926694-A-AC ***
10926711-T-G ***
15158600-C-A 13046686-C-A ***
10926700-T-A ***
5393380-A-G 5525339-A-G ***
10915957-G-T ***
10885111-C-CAATTA,G ***
22300714-C-A 20138828-C-A DYZ19 ***
15495460-CAA-C,CAAA 13383580-CAA-C,CAAA 16×A***
10895803-TTCCGTTCCTC-T,TTCCATTCTAT ***
10671452-C-A ***
17461891-C-A 15350011-C-A ***
4075808-C-T 4207767-C-T ***
6720431-G-T 6852390-G-T ***
7861288-C-A 7993247-C-A ***
10956541-TTGCTC-T,TTC ***
10987769-T-C,G ***
10987771-C-G ***
11033091-C-A ***
13472136-T-G 11316460-T-G ***
14200775-TAGA-T 12080069-TAGA-T ***
15871707-C-T 13759827-C-T FT190586 ***
15882073-TCA-T,TAA 13770193-TCA-T,TAA ***
21482762-CTTT-C,CT 19320876-CTTT-C,CT 19×T***
21827776-G-A 19665890-G-A BY135773 ***
22965188-C-A 20803302-C-A FTA41778 ***
28465302-C-A 26319155-C-A ***
28791129-G-A 26644982-G-A ***
28791132-G-A 26644985-G-A ***
28791135-G-A 26644988-G-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.