Szpunar

BigY2: 288218
MDKA Birth: Austria

Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > Z39589 > DF49/S474 > FGC11210 > FGC11163 > BY342

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
288218
28817518-G-T 26671371-G-T A*
6313843-T-A 6445802-T-A IR3_Dst A*
19646204-T-C 17534324-T-C P5_Prx A*
19874518-G-A 17762638-G-A P5_Prx A*
20020457-T-G 17908577-T-G P5_Prx A*
20646363-G-A 18484477-G-A P4_Prx A*
22266028-A-T 20104142-A-T DYZ19 A*
6104593-A-C 6236552-A-C BY59077 +
6658985-G-A 6790944-G-A BY60583 YY+
6961432-C-G 7093391-C-G BY62544 YY+
7278210-A-T 7410169-A-T BY64324 YY+
7553139-AG-A 7685098-AG-A +
8197257-G-T 8329216-G-T BY70634 YY+
8203877-T-C 8335836-T-C FGC44379 YY+
8248146-C-T 8380105-C-T BY71108 YY+
8313798-T-C 8445757-T-C BY71626 YY+
8411999-G-A 8543958-G-A BY72451 YY+
9071007-T-G 9233398-T-G BY77878 Y+
9112255-A-G 9274646-A-G BY78198 Y+
9481604-A-C 9643995-A-C BY79763 +
15471803-T-C 13359923-T-C BY101798 YY+
16267968-G-T 14156088-G-T BY106532 YY+
16268899-G-C 14157019-G-C BY106550 YY+
16444197-G-GA 14332317-G-GA +
16518967-G-C 14407087-G-C BY108336 YY+
16634864-T-G 14522984-T-G FT180748 YY+
18083320-C-T 15971440-C-T BY119825 YY+
18151710-T-G 16039830-T-G BY120457 YY+
19133063-T-TA 17021183-T-TA 9×A+
21177949-C-T 19016063-C-T BY130898 YY+
22469935-C-G 20308049-C-G FT459112 DYZ19 +
23246444-C-A 21084558-C-A BY144050 YY+
23325743-A-G 21163857-A-G BY144606 YY+
27543581-G-T 25397434-G-T BY226852 P1_Y2 +
22230297-C-A 20068411-C-A DYZ19 *
22256047-C-G 20094161-C-G DYZ19 *
58885123-G-T 56705748-C-A **
21285190-A-T 19123304-A-T Y910 ZS9483 4×AAAT**
3790920-ATG-A 3922879-ATG-A **
9930095-C-T 10092486-C-T **
18390083-C-A 16278203-C-A P6_Gap 19×A**
58842780-T-C 56748091-A-G **
17569226-G-GAA 15457346-G-GAA 25×A**
4443091-T-C 4575050-T-C **
13859499-G-T 11738793-G-T Z23499 **
15276572-T-G 13164661-T-G CTS3932 S3526 **
5409728-T-TTTTC 5541687-T-TTTTC 18×TTTC**
18447598-G-T 16335718-G-T P6_Dst **
13712209-T-C 11556533-T-C **
13474535-T-C 11318859-T-C **
13474540-C-A 11318864-C-A **
27862666-C-A 25716519-C-A P1_Y2 **
21072339-C-A 18910453-C-A **
22775458-C-A 20613572-C-A **
10820365-G-T FT189855 **
10820388-C-G **
17323702-G-T 15211822-G-T **
56748123-G-A **
56748128-G-A **
28806386-G-T 26660239-G-T **
10974765-T-G **
20622559-G-T 18460673-G-T P4_Prx **
20622565-G-T 18460679-G-T P4_Prx **
20622572-T-A 18460686-T-A P4_Prx **
10869962-C-A **
10942944-C-T **
15762120-G-T 13650240-G-T **
10818787-C-A **
10796696-C-G **
10889292-C-A **
24225-G-T **
11643738-G-T **
13874170-C-A 11753464-C-A **
28802836-G-A 26656689-G-A **
10841059-T-A **
10973925-C-T **
56742696-G-T **
10744509-C-T **
10869943-A-G **
10869949-T-C **
10869966-C-A **
10892582-C-T **
28587219-C-A 26441072-C-A **
10796101-C-G FT431566 **
10796102-C-T **
13909338-C-A 11788632-C-A **
10892570-T-G **
10892598-C-A **
56836144-GCCA-G **
5873741-C-A 6005700-C-A **
10770667-C-G **
23332260-C-A 21170374-C-A **
14701209-A-G 12589275-A-G **
14529015-C-A 12417216-C-A **
19535707-C-A 17423827-C-A **
18263883-G-GA 16152003-G-GA **
10773391-C-A **
10787321-A-T **
17486265-C-A 15374385-C-A **
10857759-C-A **
21012161-A-T 18850275-A-T P4_Dst **
10964391-C-A **
16860774-G-AT 14748894-G-AT 9×A**
13695554-C-T 11539878-C-T **
13253537-C-A 11097861-C-A **
8269984-G-T 8401943-G-T **
10882703-T-C **
17038706-C-A 14926826-C-A **
16245879-G-T 14133999-G-T **
26100606-G-T 23954459-G-T P1_Y1 **
56884389-G-T **
24232-G-A **
23837669-G-T 21675783-G-T **
13697023-A-T 11541347-A-T **
16180988-C-A 14069108-C-A **
18769967-C-A 16658087-C-A **
10943901-C-A **
14802856-C-A 12690927-C-A **
56841858-C-A **
17300681-G-A 15188801-G-A F21590 **
4770529-G-T 4902488-G-T **
10833570-C-A **
22489476-C-A 20327590-C-A DYZ19 **
19459223-C-A 17347343-C-A **
11000433-C-T **
10691109-C-T **
13466061-C-G 11310385-C-G **
13460292-C-T 11304616-C-T **
3275724-C-A 3407683-C-A **
18189703-C-A 16077823-C-A **
23076286-C-T 20914400-C-T **
11643812-T-A **
10935587-CAT-C **
13712229-A-G 11556553-A-G **
10768703-C-A **
23512292-A-T 21350406-A-T 11×T**
10943211-G-C **
7897659-G-T 8029618-G-T **
17346402-C-A 15234522-C-A **
9952166-C-A 10114557-C-A **
14355572-A-C 12234867-A-C **
10660801-A-T **
11646140-A-C **
10796664-T-A **
13809824-G-T 11689118-G-T **
18539329-G-T 16427449-G-T **
2758857-AAAAAG-A 2890816-AAAAAG-A **
2788424-G-T 2920383-G-T **
2865816-C-A 2997775-C-A FT85409 **
3107532-C-A 3239491-C-A **
3183044-C-A 3315003-C-A **
3200883-C-A 3332842-C-A **
3272434-T-G 3404393-T-G **
3275734-C-A 3407693-C-A **
3599622-C-A 3731581-C-A **
3641298-C-A 3773257-C-A **
3688280-C-A 3820239-C-A FT318141 **
3759345-C-A 3891304-C-A **
3833652-C-CAA 3965611-C-CAA 16×A**
3923306-G-T 4055265-G-T **
3990497-C-A 4122456-C-A **
4123685-G-A 4255644-G-A **
4261674-C-A 4393633-C-A **
4261851-A-G 4393810-A-G **
4444960-C-T 4576919-C-T **
4469078-G-T 4601037-G-T **
4872547-C-A 5004506-C-A **
4950878-C-A 5082837-C-A **
4959415-C-A 5091374-C-A **
5170412-T-C 5302371-T-C **
5294509-T-G 5426468-T-G **
5627573-C-A 5759532-C-A **
5684229-G-A 5816188-G-A FT364726 **
5755252-C-A 5887211-C-A **
5796749-C-A 5928708-C-A **
5956821-G-A 6088780-G-A **
6043535-G-T 6175494-G-T **
6352859-C-T 6484818-C-T **
6407241-C-A 6539200-C-A **
6407317-C-A 6539276-C-A **
6445210-T-A 6577169-T-A **
6446075-G-T 6578034-G-T **
6465371-ACTG-A 6597330-ACTG-A **
6505626-T-C 6637585-T-C **
6642325-G-T 6774284-G-T **
6699556-C-A 6831515-C-A **
6798841-C-A 6930800-C-A **
6881339-C-A 7013298-C-A **
6916297-G-A 7048256-G-A **
7014674-TGA-T 7146633-TGA-T **
7134771-G-A 7266730-G-A **
7142713-C-A 7274672-C-A **
7154624-C-T 7286583-C-T FT185126 **
7159255-C-G 7291214-C-G **
7258563-C-T 7390522-C-T **
7580047-C-A 7712006-C-A **
7699352-TA-T 7831311-TA-T **
7709402-C-A 7841361-C-A **
7828997-C-A 7960956-C-A **
7861486-C-A 7993445-C-A **
9119167-G-T **
9030184-G-T 9192575-G-T **
9221707-A-G 9384098-A-G **
9398257-G-A 9560648-G-A FT179642 **
9465288-A-C 9627679-A-C **
9937007-A-G 10099398-A-G **
9958010-C-A 10120401-C-A **
9973357-C-A 10135748-C-A **
10025044-C-A 10187435-C-A **
10028331-C-A 10190722-C-A **
10053196-C-A 10215587-C-A **
10652793-G-T **
10658111-C-G **
10658146-G-A **
10661674-C-A **
10672056-C-T **
10678227-C-A **
10683237-CCA-C **
10683242-C-A **
10683244-ACTC-A **
10683255-C-G **
10685417-C-A **
10691120-T-C FT429226 **
10760459-A-C **
10769336-G-T **
10769531-G-T **
10787330-C-T **
10794403-C-A **
10798493-T-G **
10807059-A-T **
10807064-ATTCTA-G **
10814230-G-T **
10818857-A-T **
10832235-C-A FT230052 **
10832238-T-C **
10844230-T-G **
10850992-G-T **
10857229-C-A **
10857750-C-T **
10857776-T-A **
10857782-A-C **
10857787-A-C **
10861789-A-C **
10869946-C-G **
10872962-T-C FT434945 **
10882682-C-G **
10882699-T-A **
10882715-G-C **
10932892-T-C **
10940608-C-A **
10940798-T-G **
10941529-T-G **
10941574-C-G **
10942912-C-T **
10942923-A-T **
10943903-A-T **
10943924-T-C **
10943932-C-T **
10956365-A-T **
10964198-T-C **
10964202-C-A **
10964215-T-C **
10969784-C-A **
10974293-C-A **
10978616-C-A **
10981327-C-A **
10997070-C-A **
10997755-A-G FT439733 **
10997865-A-T **
10997891-A-T **
11000428-C-G **
11000444-A-T **
11000473-C-A **
11006098-A-G **
11013402-C-T **
13305502-G-A 11149826-G-A **
13466400-C-CG 11310724-C-CG **
13466467-C-A 11310791-C-A **
13578427-C-A 11422751-C-A **
13696980-A-T 11541304-A-T **
13697002-C-A 11541326-C-A **
13719478-T-G 11563802-T-G **
11643693-G-GGACAT **
11643717-T-TGCAAC **
11651778-G-C **
11672532-C-A **
11675614-C-A **
13811087-TG-T 11690381-TG-T **
13847114-G-T 11726408-G-T **
13860047-C-A 11739341-C-A **
13885651-C-A 11764945-C-A **
13895901-C-A 11775195-C-A **
13909378-C-A 11788672-C-A **
13952573-T-C 11831867-T-C **
13961412-A-C 11840706-A-C **
14226623-T-A 12105917-T-A **
14281039-C-A 12160333-C-A **
14513194-C-A 12401399-C-A **
14787994-C-A 12676065-C-A **
14803014-A-C 12691085-A-C **
14823687-C-A 12711754-C-A **
14871309-C-A 12759379-C-A **
14919315-T-G 12807380-T-G **
14961745-T-G 12849820-T-G **
15012710-G-A 12900798-G-A **
15320643-A-G 13208749-A-G **
15452421-T-G 13340541-T-G **
15495229-G-T 13383349-G-T **
15641668-C-A 13529788-C-A **
15641683-A-G 13529803-A-G **
15740872-C-A 13628992-C-A **
15742996-C-A 13631116-C-A **
15916272-C-T 13804392-C-T **
16050314-G-A 13938434-G-A **
16118201-A-C 14006321-A-C P8_Prx **
16130394-A-C 14018514-A-C P8_Prx **
16526781-C-A 14414901-C-A **
16777926-T-G 14666046-T-G **
16816623-C-A 14704743-C-A **
16933205-C-A 14821325-C-A **
16989191-A-C 14877311-A-C **
17061116-C-A 14949236-C-A FTB58227 **
17095377-T-G 14983497-T-G **
17552275-CT-C 15440395-CT-C **
17636532-G-C 15524652-G-C **
17876418-G-T 15764538-G-T **
18053454-C-T 15941574-C-T FT181315 **
18447569-C-A 16335689-C-A P6_Dst **
18688394-C-A 16576514-C-A **
18738809-ATATATATATATATATATG-A 16626929-ATATATATATATATATATG-A **
18758921-C-A 16647041-C-A **
18812197-T-G 16700317-T-G **
18892470-T-G 16780590-T-G **
19088005-T-G 16976125-T-G **
19377439-G-GAAGAAGGA 17265559-G-GAAGAAGGA 15×AAGA**
19645044-G-T 17533164-G-T P5_Prx **
20049900-C-A 17938020-C-A P5_Prx **
20049906-G-T 17938026-G-T P5_Prx **
20492880-C-CA 18330994-C-CA P5_Dst **
20640221-T-G 18478335-T-G P4_Prx **
20850548-C-A 18688662-C-A P4_Dst **
20850638-T-TGTG 18688752-T-TGTG P4_Dst **
21033475-TAAATATATAATTATATA-T 18871589-TAAATATATAATTATATA-T **
21134905-C-A 18973019-C-A **
21153622-A-G 18991736-A-G **
21202216-A-G 19040330-A-G **
21587947-A-G 19426061-A-G **
21912517-G-T 19750631-G-T **
21922099-AAAAAG-A 19760213-AAAAAG-A **
22091375-C-A 19929489-C-A **
22207254-A-G 20045368-A-G **
22218264-A-G 20056378-A-G DYZ19 **
22218280-C-A 20056394-C-A DYZ19 **
22218281-C-A 20056395-C-A DYZ19 **
22218289-G-T 20056403-G-T DYZ19 **
22218291-G-C 20056405-G-C DYZ19 **
22218295-A-T 20056409-A-T DYZ19 **
22218314-A-C 20056428-A-C DYZ19 **
22218315-G-T 20056429-G-T DYZ19 **
22289680-T-G 20127794-T-G DYZ19 **
22429817-G-A 20267931-G-A BY217974 DYZ19 **
22429822-G-T 20267936-G-T DYZ19 **
22430126-C-G 20268240-C-G DYZ19 **
22594519-C-A 20432633-C-A **
22689827-C-A 20527941-C-A **
22696430-C-A 20534544-C-A **
22775154-A-C 20613268-A-C **
23056149-GA-G 20894263-GA-G **
23062661-C-A 20900775-C-A **
23062711-T-A 20900825-T-A **
23434422-G-T 21272536-G-T **
23569227-C-A 21407341-C-A **
23818927-C-A 21657041-C-A **
21752441-G-T **
26066373-TG-T 23920226-TG-T P1_Y1 **
26097977-C-A 23951830-C-A P1_Y1 **
26098919-G-T 23952772-G-T P1_Y1 **
26152031-C-A 24005884-C-A P1_Y1 **
26154842-G-T 24008695-G-T P1_Y1 **
26154856-G-T 24008709-G-T P1_Y1 **
26400802-G-T 24254655-G-T P1_Y1 **
27232119-C-G 25085972-C-G P1_g3 **
27540970-AAC-A 25394823-AAC-A P1_Y2 **
28015150-A-AC 25869003-A-AC P1_Y2 **
28034533-A-AC 25888386-A-AC P1_Y2 **
28270544-G-T 26124397-G-T P1_b4 **
28580422-C-A 26434275-C-A **
28633979-A-C 26487832-A-C **
28722178-T-A 26576031-T-A **
28798378-G-T 26652231-G-T **
28814137-A-C 26667990-A-C **
56748122-T-C **
56837205-A-T **
56837214-T-C **
56837224-AT-A **
56837241-T-C **
56837244-C-A **
56840215-A-T **
56850238-T-A **
13809992-T-A 11689286-T-A ***
7113742-A-G 7245701-A-G PR872 ***
10878280-ATTCCA-A,ATTCCT ***
56850762-T-C ***
10843732-A-T ***
6359640-TAAA-T,TAA 6491599-TAAA-T,TAA 22×A***
13474645-A-G 11318969-A-G ***
10843729-C-G ***
13489444-G-A 11333768-G-A ***
9952377-C-A 10114768-C-A ***
21287967-CT-C,CTT 19126081-CT-C,CTT 16×T***
56850767-C-A ***
10980612-C-A ***
21969711-C-A 19807825-C-A ***
13489433-G-A 11333757-G-A ***
4788766-C-G 4920725-C-G ***
7270330-C-A 7402289-C-A ***
10949873-C-A ***
14735246-C-A 12623314-C-A ***
15114873-C-A 13002960-C-A ***
15495460-CAAAAA-C,CAAAAAA 13383580-CAAAAA-C,CAAAAAA 16×A***
17192867-TG-T,TGG 15080987-TG-T,TGG 12×G***
18050207-C-A 15938327-C-A ***
21884673-C-A 19722787-C-A ***
22236208-A-G 20074322-A-G DYZ19 ***
22240742-G-A 20078856-G-A DYZ19 ***
22484786-A-G 20322900-A-G DYZ19 ***
28804404-C-A 26658257-C-A ***
56826811-C-A ***
56828200-T-A ***
56850798-T-C ***

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.