Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > ZZ10 > Z253 > Z2534 > ZZ5 > Z2185 > BY44331 > Z2186 > L1066

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
192651
6217286-G-A 6349245-G-A IR3_Dst A*
13451266-C-T 11295590-C-T A*
19783113-G-T 17671233-G-T P5_Prx A*
20758036-G-C 18596150-G-C P4_Prx A*
22282574-A-G 20120688-A-G DYZ19 A*
22286320-C-G 20124434-C-G DYZ19 A*
24310434-G-T 22164287-G-T P3_t1 A*
26219147-A-C 24073000-A-C P1_Y1 A*
28816567-T-C 26670420-T-C A*
28817518-G-T 26671371-G-T A*
16869041-TTG-T 14757161-TTG-T +
22664495-G-T 20502609-G-T FGC15236FGC15250 YY+
6931185-C-G 7063144-C-G BY62258 YY+
6955696-T-C 7087655-T-C BY62503 YY+
6993034-C-T 7124993-C-T BY62775 YY+
7017797-T-C 7149756-T-C BY62858 Y+
7020044-A-G 7152003-A-G BY62872 Y+
7377290-G-T 7509249-G-T BY64853 YY+
7765009-T-C 7896968-T-C Y39108 YY+
8128414-G-T 8260373-G-T BY70164 YY+
8464837-C-G 8596796-C-G BY73018 YY+
9453700-CTTGT-C 9616091-CTTGT-C +
14004920-GA-G 11884214-GA-G +
15497317-T-C 13385437-T-C BY101990 YY+
15664214-ACTT-A 13552334-ACTT-A +
15785171-C-A 13673291-C-A BY104123 YY+
15831675-G-A 13719795-G-A BY104429 YY+
15935935-G-A 13824055-G-A BY104996 YY+
16175493-A-G 14063613-A-G BY105749 Y+
16243683-G-A 14131803-G-A BY106288 YY+
17677921-A-G 15566041-A-G BY116591 YY+
18167917-G-A 16056037-G-A ZS9534 YY+
18802216-A-G 16690336-A-G BY123944 YY+
19011420-A-C 16899540-A-C BY125534 YY+
21136140-C-T 18974254-C-T BY130613 YY+
21557184-A-AT 19395298-A-AT +
22359631-T-A 20197745-T-A BY217657 DYZ19 +
22468859-G-C 20306973-G-C BY177842 DYZ19 +
22471879-C-T 20309993-C-T BY53035 DYZ19 +
22478213-T-G 20316327-T-G BY223985 DYZ19 +
22768955-C-T 20607069-C-T BY140665 YY+
23166748-C-T 21004862-C-T BY143592 Y+
23439360-TTTG-T 21277474-TTTG-T +
23812557-G-C 21650671-G-C BY147910 Y+
24443297-TG-T 22297150-TG-T +
19526-C-T +
14612239-G-GGATAGATAGATA 12500445-G-GGATAGATAGATA 9×GATA*
13942606-T-TACAC 11821900-T-TACAC 9×AC*
22225504-A-T 20063618-A-T DYZ19 *
22275104-G-A 20113218-G-A DYZ19 *
22299978-G-A 20138092-G-A DYZ19 *
22303386-T-A 20141500-T-A DYZ19 *
17030588-C-T 14918708-C-T 16×T**
4271315-C-A 4403274-C-A **
21713438-TAAAA-T 19551552-TAAAA-T 16×A**
3663316-T-C 3795275-T-C **
17642356-C-A 15530476-C-A **
3663312-C-T 3795271-C-T **
25931647-G-A 23785500-G-A P1_Y1 **
26282879-C-G 24136732-C-G P1_Y1 **
22486198-G-A 20324312-G-A DYZ19 **
28734338-C-A 26588191-C-A **
13642414-C-A 11486738-C-A **
10761116-T-G **
10761119-A-T **
10761141-T-A **
10761148-C-A **
10761143-C-A **
10799637-C-T **
10945403-A-T **
10954313-T-A FT438035 **
10887928-T-C **
17301260-AAG-A 15189380-AAG-A **
2680841-A-C 2812800-A-C **
2689585-C-A 2821544-C-A **
2915344-G-T 3047303-G-T **
3133869-G-T 3265828-G-T **
3245034-C-A 3376993-C-A **
3341564-G-T 3473523-G-T **
3364922-G-T 3496881-G-T **
3422406-G-T 3554365-G-T **
3443374-G-T 3575333-G-T **
3548580-T-C 3680539-T-C **
3594337-C-A 3726296-C-A **
3621174-G-T 3753133-G-T **
3851824-G-T 3983783-G-T **
3858321-G-T 3990280-G-T **
4069521-C-A 4201480-C-A **
4174962-C-CT 4306921-C-CT 31×T**
4194453-G-T 4326412-G-T **
4201185-C-T 4333144-C-T **
4282763-G-T 4414722-G-T **
4308845-C-A 4440804-C-A **
4462290-G-T 4594249-G-T **
4471514-G-T 4603473-G-T **
4521763-C-A 4653722-C-A **
4540122-G-T 4672081-G-T **
4626215-C-A 4758174-C-A **
4874792-G-T 5006751-G-T **
4898390-C-A 5030349-C-A **
4919316-A-G 5051275-A-G **
5190000-C-A 5321959-C-A **
5200151-G-C 5332110-G-C **
5242306-C-A 5374265-C-A **
5292234-C-A 5424193-C-A **
5317075-T-G 5449034-T-G **
5534987-T-C 5666946-T-C FT324232 **
5625184-A-C 5757143-A-C **
6038998-G-A 6170957-G-A **
6155251-G-T 6287210-G-T IR3_Dst **
6273856-A-AC 6405815-A-AC IR3_Dst **
6284443-T-C 6416402-T-C IR3_Dst **
6321385-CA-C 6453344-CA-C IR3_Dst **
6330229-CACA-C 6462188-CACA-C IR3_Dst **
6642436-T-C 6774395-T-C **
6697259-A-C 6829218-A-C **
6786689-C-A 6918648-C-A **
6874484-T-G 7006443-T-G **
6926272-T-G 7058231-T-G **
7019174-A-C 7151133-A-C **
7029821-T-G 7161780-T-G **
7167145-C-A 7299104-C-A **
7169945-T-G 7301904-T-G **
7288090-T-G 7420049-T-G **
7371764-C-A 7503723-C-A **
7377715-A-T 7509674-A-T FT178999 **
7418504-G-A 7550463-G-A **
7468263-C-A 7600222-C-A IR1_L **
7551646-C-A 7683605-C-A **
8020221-CAAAAAAAAAA-C 8152180-CAAAAAAAAAA-C 22×A**
8046468-T-C 8178427-T-C **
8077110-A-G 8209069-A-G **
8140494-T-A 8272453-T-A **
8169311-A-T 8301270-A-T **
8856799-A-C 8988758-A-C **
9056561-T-C **
9034655-CAAA-C 9197046-CAAA-C 12×A**
9094416-TC-T 9256807-TC-T **
9602614-G-T 9765005-G-T IR3_Prx **
9820489-C-A 9982880-C-A **
9956281-C-A 10118672-C-A **
9986187-C-A 10148578-C-A **
10023745-C-A 10186136-C-A **
10040048-C-A 10202439-C-A **
10655042-T-G **
10658815-G-T FT428377 **
10662663-C-A **
10668212-C-T **
10672161-T-G **
10678592-C-A **
10679504-C-A **
10682450-A-T **
10684622-G-T **
10744648-C-A **
10745033-C-A **
10745162-C-A **
10752451-C-A **
10754504-C-A **
10756696-T-A **
10761013-G-T **
10761034-A-T **
10764580-CA-C **
10764592-T-A **
10764604-C-A **
10767656-C-A **
10769099-C-A **
10770638-C-A **
10774773-C-T **
10775812-C-A **
10784081-C-A **
10787746-A-G **
10791046-T-C **
10796149-T-C **
10801026-A-C **
10801027-T-A **
10801266-C-G **
10808081-C-A **
10814844-C-A **
10820379-C-A **
10826221-C-A **
10826229-T-A **
10829616-C-A **
10846847-T-G **
10846853-C-G FT433895 **
10858857-TTCCAC-T **
10863106-C-A **
10868148-C-A **
10869922-C-A **
10870501-A-C **
10870507-G-C **
10870511-C-A **
10892857-ATTCAC-A **
10892867-C-A **
10892872-C-A **
10906974-G-T **
10921744-A-G **
10927795-GCTC-G **
10942958-T-A **
10945385-A-T **
10946153-G-T **
10947817-G-T **
10947818-T-C **
10950571-C-A **
10954355-C-A **
10954469-C-T **
10955361-T-C **
10964882-A-G **
10968997-G-T **
10971184-C-T FT438631 **
10972595-G-C **
10972608-C-T **
10972632-A-C **
10972641-C-T **
10972653-C-T FGC51761FT92143 **
10972656-C-G **
10977535-C-A **
10981813-C-A **
10983470-GCATTC-G **
10987151-CGACTA-C **
10990166-C-A **
10992241-C-A **
11001888-T-A **
11009803-C-CT **
11009809-A-T **
11009813-C-G **
11012308-C-A **
11012310-T-A **
11012315-T-C **
11012339-T-A **
11012350-T-A **
11012357-T-C **
11012358-C-G **
11014316-C-G **
11022657-T-G **
11022667-T-G **
11022672-T-G **
11022677-T-G **
11024485-G-C **
11024496-C-T **
11024497-T-G **
11024508-G-A FGC80171 **
11024522-T-C **
11024530-T-G **
11024551-A-C **
11024555-G-T **
11024582-C-T **
11024587-A-T **
11027625-C-A **
11029688-C-G **
11029710-C-A **
11029711-T-A **
11034513-A-G **
11037190-C-AA **
11037945-T-G **
13216568-C-A 11060892-C-A **
13222138-G-T 11066462-G-T **
13222149-G-A 11066473-G-A **
13224614-C-A 11068938-C-A **
13257155-C-A 11101479-C-A **
13315219-C-A 11159543-C-A **
13395109-C-A 11239433-C-A **
13402650-C-A 11246974-C-A **
13453645-T-TTTGAGTTGAA 11297969-T-TTTGAGTTGAA **
13454496-C-T 11298820-C-T **
13461159-A-G 11305483-A-G **
13482342-C-T 11326666-C-T **
13486820-A-G 11331144-A-G **
13605105-G-T 11449429-G-T **
13624047-A-G 11468371-A-G **
13705443-T-A 11549767-T-A DYZ17 **
11647875-G-T DYZ17 **
11648805-G-T DYZ17 **
11654617-T-A DYZ17 **
13855522-GATGGAATGGAATGGA-G 11734816-GATGGAATGGAATGGA-G DYZ17 11×ATGGA**
13858542-AT-A 11737836-AT-A DYZ17 **
13858544-G-GC 11737838-G-GC DYZ17 **
13934910-C-A 11814204-C-A **
13938539-G-T 11817833-G-T **
13962140-C-A 11841434-C-A **
13965268-TC-T 11844562-TC-T **
13975980-T-A 11855274-T-A **
14016794-T-G 11896088-T-G **
14033865-T-TAC 11913159-T-TAC 8×AC**
14046699-C-A 11925993-C-A **
14065536-C-A 11944830-C-A **
14179370-T-G 12058664-T-G **
14291149-G-T 12170443-G-T **
14294342-G-GAAA 12173636-G-GAAA 13×A**
14352209-A-C 12231504-A-C **
14391700-A-T 12270996-A-T **
14397372-G-A 12276668-G-A FT374121 **
14429372-C-A 12308647-C-A **
14589014-G-T 12477214-G-T **
14717419-G-T 12605487-G-T **
14743709-C-A 12631778-C-A **
14802693-A-C 12690764-A-C **
14927138-C-G 12815203-C-G FT374133 **
14963973-A-C 12852048-A-C **
14967250-C-A 12855325-C-A **
15038354-C-A 12926444-C-A **
15092389-C-T 12980478-C-T **
15107611-A-G 12995698-A-G **
15109617-G-T 12997704-G-T **
15209354-A-C 13097440-A-C **
15288636-T-A 13176735-T-A **
15365064-C-A 13253184-C-A **
15386332-C-A 13274452-C-A **
15536518-A-C 13424638-A-C **
15622669-A-C 13510789-A-C **
15733905-G-AT 13622025-G-AT **
15742213-A-G 13630333-A-G FT374147 **
15770169-C-A 13658289-C-A **
15854733-T-C 13742853-T-C **
15940306-CAAAAAA-C 13828426-CAAAAAA-C 24×A**
15943857-C-A 13831977-C-A **
16029308-C-A 13917428-C-A **
16063142-T-G 13951262-T-G **
16215187-G-C 14103307-G-C **
16295018-C-A 14183138-C-A **
16352058-G-T 14240178-G-T **
16413544-A-C 14301664-A-C **
16413549-T-A 14301669-T-A **
16505978-C-A 14394098-C-A **
16505988-C-A 14394108-C-A Y96525 31×T**
16522616-T-G 14410736-T-G **
16583309-C-T 14471429-C-T AMM154 AM00344 **
16625031-C-A 14513151-C-A **
16636205-G-T 14524325-G-T **
16648154-T-C 14536274-T-C **
16719708-G-T 14607828-G-T **
16720422-G-T 14608542-G-T **
16726504-A-C 14614624-A-C **
17061285-C-A 14949405-C-A **
17128535-CTTTTT-C 15016655-CTTTTT-C 25×T**
17206617-T-C 15094737-T-C **
17228293-C-A 15116413-C-A **
17264966-C-T 15153086-C-T **
17360449-T-C 15248569-T-C **
17741356-G-A 15629476-G-A **
17760442-T-C 15648562-T-C **
17760443-T-G 15648563-T-G **
17798768-A-C 15686888-A-C **
17859392-T-C 15747512-T-C **
17859401-C-T 15747521-C-T **
17859403-T-A 15747523-T-A **
17871705-A-G 15759825-A-G **
17884602-C-A 15772722-C-A FTB52822 **
18121261-G-T 16009381-G-T **
18212518-C-A 16100638-C-A **
18230496-G-A 16118616-G-A **
18274948-G-A 16163068-G-A P6_Prx 8×TA**
18288740-TAGCAA-T 16176860-TAGCAA-T P6_Prx **
18370833-C-A 16258953-C-A P6_Prx **
18370847-C-A 16258967-C-A P6_Prx 25×T**
18370847-CT-C 16258967-CT-C P6_Prx 25×T**
18499927-GAAAA-G 16388047-GAAAA-G P6_Dst 13×A**
18728939-C-A 16617059-C-A FT111864 **
18736010-T-G 16624130-T-G **
18849454-C-A 16737574-C-A **
18988855-C-A 16876975-C-A **
19079006-C-A 16967126-C-A FT423336 **
19110998-C-A 16999118-C-A **
19370357-TA-T 17258477-TA-T **
19377500-G-A 17265620-G-A **
19509927-G-T 17398047-G-T **
19509946-A-T 17398066-A-T **
19539670-C-A 17427790-C-A **
19539676-A-T 17427796-A-T **
19539683-C-T 17427803-C-T **
19663769-T-A 17551889-T-A P5_Prx **
19663801-T-A 17551921-T-A P5_Prx **
19770211-C-A 17658331-C-A P5_Prx **
19795265-T-G 17683385-T-G P5_Prx **
20340091-G-T 18178205-G-T P5_Dst **
20340109-C-A 18178223-C-A P5_Dst **
20613513-A-C 18451627-A-C P4_Prx **
20943513-A-T 18781627-A-T P4_Dst **
20984127-T-G 18822241-T-G P4_Dst **
21096057-G-T 18934171-G-T **
21111834-A-C 18949948-A-C **
21111835-A-C 18949949-A-C **
21118456-C-A 18956570-C-A **
21206903-C-G 19045017-C-G **
21281424-A-C 19119538-A-C **
21283456-C-A 19121570-C-A **
21296570-A-T 19134684-A-T **
21350690-G-C 19188804-G-C **
21656905-G-T 19495019-G-T **
21671613-A-C 19509727-A-C **
21714727-A-T 19552841-A-T **
21802700-C-A 19640814-C-A **
21849858-T-A 19687972-T-A **
21939557-T-C 19777671-T-C **
22146764-C-A 19984878-C-A **
22172433-G-T 20010547-G-T **
22204940-G-A 20043054-G-A **
22297866-G-GA 20135980-G-GA DYZ19 **
22297870-GT-G 20135984-GT-G DYZ19 **
22483765-G-A 20321879-G-A DYZ19 **
22487803-G-A 20325917-G-A DYZ19 **
22522436-C-A 20360550-C-A **
22600345-A-C 20438459-A-C **
22651318-C-A 20489432-C-A **
22661044-G-A 20499158-G-A **
22801817-T-A 20639931-T-A **
22839110-C-T 20677224-C-T **
22839144-T-C 20677258-T-C **
22839148-T-C 20677262-T-C **
22880785-C-A 20718899-C-A **
22916805-G-T 20754919-G-T **
23036464-G-T 20874578-G-T **
23047701-C-A 20885815-C-A **
23086868-T-C 20924982-T-C A759 **
23097996-A-T 20936110-A-T **
23098000-A-C 20936114-A-C **
23126304-C-A 20964418-C-A **
23128045-A-G 20966159-A-G FT374275 **
23167735-C-A 21005849-C-A **
23264188-A-C 21102302-A-C **
23392241-T-G 21230355-T-G **
23421009-C-A 21259123-C-A **
23505132-C-A 21343246-C-A **
23790191-G-T 21628305-G-T FT142705 **
23823522-T-A 21661636-T-A **
24047614-C-A 21901467-C-A **
24381235-A-C 22235088-A-C **
24582248-GTGT-G 22436101-GTGT-G P3_t2 **
24614108-G-T 22467961-G-T P3_t2 **
25815218-C-A 23669071-C-A P1_b3 **
25815246-G-T 23669099-G-T P1_b3 **
25931648-AAAAT-A 23785501-AAAAT-A P1_Y1 **
25985354-C-A 23839207-C-A P1_Y1 **
25985388-T-TG 23839241-T-TG P1_Y1 **
26282883-A-T 24136736-A-T P1_Y1 **
26282893-A-T 24136746-A-T P1_Y1 **
26409788-C-A 24263641-C-A P1_Y1 **
27758321-A-AT 25612174-A-AT P1_Y2 **
28517344-A-C 26371197-A-C **
28529721-C-A 26383574-C-A **
28544359-C-A 26398212-C-A **
28608475-G-T 26462328-G-T **
28660647-C-A 26514500-C-A **
28674715-AT-A 26528568-AT-A **
28674784-A-AGG 26528637-A-AGG **
28707843-GT-G 26561696-GT-G **
28721035-C-A 26574888-C-A **
28777428-A-T 26631281-A-T **
28792430-A-T 26646283-A-T **
28808604-G-T 26662457-G-T **
56699848-A-G **
56699861-G-A **
56699862-A-C **
56763553-A-G **
56763580-TGGAATGAATTGGAAC-T **
56850951-A-C **
14033846-GCA-G 11913140-GCA-G ***
14219767-G-GA 12099061-G-GA 11×A***
22147730-C-CT 19985844-C-CT 19×TTTCT***
3114674-C-A 3246633-C-A ***
3817856-A-T 3949815-A-T ***
5358811-C-A 5490770-C-A ***
6402468-C-A 6534427-C-A ***
6700969-AATAAGGAAT-A 6832928-AATAAGGAAT-A ***
6792628-CAAAAA-C,CAA 6924587-CAAAAA-C,CAA 18×A***
7645595-C-A 7777554-C-A ***
8843536-ATTTT-A,ATT 8975495-ATTTT-A,ATT 23×T***
9777507-CAAA-C,CAAAA 9939898-CAAA-C,CAAAA 17×A***
9945957-C-A 10108348-C-A ***
10826248-T-C ***
10834208-T-A ***
10861076-C-A ***
10869972-C-CAGAAG ***
10869986-C-G ***
10963007-C-A ***
10998054-C-T ***
10998055-A-G ***
13453283-T-A 11297607-T-A ***
11671641-G-T DYZ17 ***
13850265-AGGAATGGAATGGAAT-A 11729559-AGGAATGGAATGGAAT-A DYZ17 15×GGAAT***
14393007-C-G 12272303-C-G ***
14393016-C-T 12272312-C-T ***
14393017-A-G 12272313-A-G ***
14394468-TA-T,TAA 12273764-TA-T,TAA 16×A***
14513896-C-A 12402101-C-A ***
14685930-C-A 12573996-C-A ***
14743836-C-A 12631905-C-A ***
15174655-TATTTTGA-T 13062741-TATTTTGA-T ***
15189790-C-A 13077876-C-A ***
15495879-C-A 13383999-C-A ***
15623237-C-A 13511357-C-A ***
15967470-G-A 13855590-G-A ***
16594395-C-A 14482515-C-A ***
16938209-C-A 14826329-C-A ***
17201762-CT-C,CTTTT 15089882-CT-C,CTTTT 16×T***
18401930-C-A 16290050-C-A P6_Gap ***
21153569-C-T 18991683-C-T ***
21162768-C-A 19000882-C-A ***
21261826-TAAAA-T 19099940-TAAAA-T 26×A***
21911989-C-T 19750103-C-T ***
22255168-C-A 20093282-C-A DYZ19 ***
22446656-C-T 20284770-C-T DYZ19 ***
22577951-GAAAAA-G 20416065-GAAAAA-G 24×A***
23395625-C-A 21233739-C-A ***
24406000-G-T 22259853-G-T ***
28707862-T-C 26561715-T-C ***
56848720-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.