Pucher

BigY3: IN90742
MDKA Birth: Slovakia 1647

Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > L2/S139 > Z258 > Z367/S255 > L20/S144 > Z1909 > 38:26092490T>TA > Y22248

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 STRBigY3
IN90742
22369512-G-C 20207626-G-C DYZ19 A+
10770753-T-A A*
10770773-A-T A*
10767769-C-T A*
10775975-C-A A*
56834382-C-T A*
28801449-A-AGTAG 26655302-A-AGTAG A*
13843984-G-C 11723278-G-C A*
4808336-T-C 4940295-T-C A*
18280849-C-T 16168969-C-T P6_Prx A*
22265387-C-T 20103501-C-T DYZ19 A*
24353976-A-G 22207829-A-G P3_t1 A*
26115403-T-C 23969256-T-C P1_Y1 A*
56829753-T-C A*
17168-G-T FGC78513 +
13859208-TGGAAC-T 11738502-TGGAAC-T +
6521924-CT-C 6653883-CT-C 9×T+
10762936-C-T FT178433 +
21635328-G-A 19473442-G-A FT284263 YY+
3888840-G-C 4020799-G-C FT424694 +
7192524-C-T 7324483-C-T YY+
7749955-TG-T 7881914-TG-T +
7821070-A-C 7953029-A-C FT425008 YY+
8046989-C-A 8178948-C-A FT425024 YY+
8124795-G-A 8256754-G-A FT104596 YY+
8399981-C-T 8531940-C-T FT425049 YY+
8512322-C-G 8644281-C-G FT425067 YY+
8836710-T-C 8968669-T-C FT425095 YY+
9109719-T-C FT425103 +
9795096-G-C 9957487-G-C FT190446 Y+
10899719-C-A FT462798 +
14361446-G-A 12240741-G-A FT425219 YY+
14498256-T-C 12386461-T-C FT425229 YY+
14507064-C-T 12395269-C-T FT425231 YY+
16434309-G-A 14322429-G-A YY+
16778645-A-G 14666765-A-G FT425392 YY+
16846086-A-G 14734206-A-G FT425400 YY+
17203737-T-C 15091857-T-C FT425428 YY+
17941036-T-C 15829156-T-C FT425486 YY+
18049089-C-T 15937209-C-T FT425498 YY+
19146795-GTCTCAA-G 17034915-GTCTCAA-G +
19191515-A-T 17079635-A-T YY+
21628812-TC-T 19466926-TC-T +
22189467-G-T 20027581-G-T FT425707 YY+
22514187-T-G 20352301-T-G FT425709 Y+
22740646-G-T 20578760-G-T FT425721 YY+
23311559-C-T 21149673-C-T YY+
23737318-A-G 21575432-A-G FT425792 +
24445352-G-T 22299205-G-T FT425814 Y+
19200940-C-CAG 17089060-C-CAG 10×AG*
13459268-T-TGCCAC 11303592-T-TGCCAC *
13519570-A-G 11363894-A-G **
4058550-G-GAT 4190509-G-GAT 9×AT**
13457406-TGTTTC-T 11301730-TGTTTC-T **
5231084-A-G 5363043-A-G **
22611874-C-CT 20449988-C-CT 9×T**
23291702-T-C 21129816-T-C FT171271 **
23291705-G-A 21129819-G-A **
26389859-GCA-G 24243712-GCA-G P1_Y1 10×CA**
14471314-A-G 12350583-A-G **
3235251-T-C 3367210-T-C **
3438013-C-A 3569972-C-A **
3891471-C-T 4023430-C-T **
4220184-A-G 4352143-A-G **
4432834-G-C 4564793-G-C **
4895426-T-C 5027385-T-C **
5401633-A-G 5533592-A-G **
5408969-T-C 5540928-T-C **
5830384-T-C 5962343-T-C **
5984152-A-G 6116111-A-G **
6577131-T-C 6709090-T-C **
6711832-A-C 6843791-A-C **
7515105-T-C 7647064-T-C **
8975442-T-C 9137833-T-C **
10073842-C-A 10236233-C-A **
10081340-A-G 10243731-A-G **
13719410-G-T 11563734-G-T **
13905261-C-G 11784555-C-G **
14100740-G-A 11980034-G-A **
14219459-T-A 12098753-T-A **
14692263-A-G 12580329-A-G **
15923591-C-T 13811711-C-T **
16570555-C-CT 14458675-C-CT 8×T**
16949971-A-G 14838091-A-G **
20682265-G-A 18520379-G-A P4_Prx **
21055762-A-G 18893876-A-G **
21114448-T-G 18952562-T-G **
23102574-T-C 20940688-T-C **
24492483-T-C 22346336-T-C **
28723552-A-ATT 26577405-A-ATT 10×T**
28748692-T-C 26602545-T-C **
20824599-CTA-C 18662713-CTA-C P4_Gap ***
17420330-T-TA 15308450-T-TA Z17967 10×A***
4416630-T-G 4548589-T-G ***
15526751-C-T 13414871-C-T ***
3324074-CAG-C 3456033-CAG-C ***
4123947-G-A 4255906-G-A ***
14062809-C-T 11942103-C-T BY92707 ***
17733625-G-A 15621745-G-A PF1733 M5240 CTS7909 ***
16711107-C-CAT 14599227-C-CAT ***
18564316-CTTTTT-C 16452436-CTTTTT-C 19×T***
14934306-CTT-C 12822371-CTT-C 15×T***
10801706-C-T ***
21885332-T-A 19723446-T-A FGC32615 ***
10921940-G-T ***
13487672-A-AAAACGCGCACCC 11331996-A-AAAACGCGCACCC ***
10775971-A-C ***
13856748-G-T 11736042-G-T ***
18593205-CT-C 16481325-CT-C 10×T***
16342093-CA-C,CAA 14230213-CA-C,CAA 13×A***
13811212-T-G 11690506-T-G ***
15061690-CT-C,CTT 12949782-CT-C,CTT 13×T***
19006136-CAAAA-C 16894256-CAAAA-C 21×A***
13811126-A-G 11690420-A-G ***
13811216-A-T 11690510-A-T ***
14473661-T-TA 12352930-T-TA 8×A***
28492955-G-T 26346808-G-T ***
13811219-G-A 11690513-G-A ***
13811227-T-A 11690521-T-A ***
16589145-G-GA 14477265-G-GA 9×A***
14203262-TA-T 12082556-TA-T 9×A***
18592167-C-CAA 16480287-C-CAA 18×A***
21235227-CAAAAA-C,CAA 19073341-CAAAAA-C,CAA 19×A***
5502827-C-CTGTGTG 5634786-C-CTGTGTG 17×TG***
6517443-CT-C 6649402-CT-C 10×T***
56880151-AAA-G ***
3015864-G-A 3147823-G-A ***
4310118-AT-A 4442077-AT-A 9×T***
6068017-CT-C 6199976-CT-C 10×T***
28613771-CTT-C,CT 26467624-CTT-C,CT 16×T***
15936985-T-A 13825105-T-A ***
17201762-CTT-C,CTTT 15089882-CTT-C,CTTT 16×T***
3459716-A-G 3591675-A-G ***
12376050-CT-C,CTT ***
2836209-A-T 2968168-A-T ***
3124172-T-A 3256131-T-A ***
3136565-T-C 3268524-T-C ***
3204593-A-G 3336552-A-G ***
3310480-T-A 3442439-T-A ***
3459723-A-C 3591682-A-C ***
3489596-T-C 3621555-T-C ***
3528511-T-C 3660470-T-C ***
4362592-T-A 4494551-T-A ***
4878255-AAAAAA-A,AAAAG 5010214-AAAAAA-A,AAAAG ***
5529698-G-T 5661657-G-T ***
5683906-AGCTGATTGGTCCATCTTGACAGGGT-A 5815865-AGCTGATTGGTCCATCTTGACAGGGT-A ***
5710744-A-G 5842703-A-G ***
5948057-A-G 6080016-A-G ***
7033560-T-A 7165519-T-A ***
7411424-T-C 7543383-T-C ***
7514858-T-C 7646817-T-C ***
7981833-C-T 8113792-C-T ***
8110839-C-T 8242798-C-T ***
8817205-T-C 8949164-T-C ***
9821393-T-C 9983784-T-C ***
10955328-CCCTATGCCAT-C ***
14943570-G-A 12831644-G-A ***
14943576-G-A 12831650-G-A ***
15209564-A-G 13097650-A-G ***
15335067-T-C 13223185-T-C ***
15969659-T-C 13857779-T-C ***
15989265-T-C 13877385-T-C ***
17863332-T-C 15751452-T-C ***
17952848-A-G 15840968-A-G ***
18253678-T-A 16141798-T-A ***
18426175-C-CA 16314295-C-CA P6_Gap 9×A***
18711142-TA-T 16599262-TA-T ***
19422097-G-T 17310217-G-T ***
21114451-C-A 18952565-C-A ***
21133556-CAAAAAA-C,CAAAAAAA 18971670-CAAAAAA-C,CAAAAAAA 23×A***
21167283-CT-C,CTT 19005397-CT-C,CTT 12×T***
21187155-A-G 19025269-A-G ***
21962935-T-C 19801049-T-C BY201242 ***
22174212-A-T 20012326-A-T ***
22551727-A-G 20389841-A-G ***
22855237-A-G 20693351-A-G ***

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.