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Monday, April 24, 2017

My Family Tree DNA Full Sequence Mitochondrial Analysis Report

 
 
Here is the data given me by Family Tree DNA, which I'm currently comparing with that from James Lick. Both sources have categorized my mtDNA as most closely resembling W1-T119C. However, mine has two missing markers and six extras, so I'm not quite sure but I think it means I'm in-between or belong in my own unique group or clade. However, unless the phylotree gets further updating, with my data included, I have to be content with the present conclusion.

 
 
"There are numerous other W1 lineages without enough results yet to receive a subgroup designation. As is the case with the non-Finnish, W1a's, W1b's, and W1e's, these all seem to be north European maritime lineages, perhaps descended from a basic W1 lineage in the eastern Baltic Sea around 4,000 years ago.

"One branch sharing the 119 mutation in HVR2 spread to territories on the Baltic and North Atlantic, and Bay of Biscay. Ancient DNA results show W+119 was present in Germany 7300 years ago, in burials of the LBK culture. Finds of the same type continue in the later Schöningen, Salzmünde, and Bernburg cultures through 5000 years ago.

"One sharing the 16295 mutation arose around 3,000 years ago and is found today in the Netherlands and the British Isles."
 
 
 

https://www.ncbi.nlm.nih.gov/nuccore/FJ472633
This is the link directly tied to the T119C mutation.

http://www.phylotree.org/tree/X.htm

http://www.phylotree.org/tree/N.htm

http://www.phylotree.org/tree/index.htm

 
 
 
This explains my unusual mutations:
 
"MTDNA Mutations

"The most common mutations are a change in a letter at a location to its complementary letter - A to G, G to A, C to T, or T to C.

"Next most common are insertion of an extra letter. These are represented in your results by a dot, followed by the number of insertions. For example, 315.1C - meaning an extra C was inserted after 315C; or 315.2C - meaning two extra C's were inserted after 315C.

"Deletions can also occur, where a letter in the sequence is missing. These are indicated by a dash, for example 16183-.

"Occasionally the test results show 'heteroplasmy' - meaning the mtdna in your cells shows multiple results for the same position. This can happen because a single cell contains hundreds of thousands of mtdna copies, groups of which may have mutated and have different letters at the same location; and your results are based on the average for many millions of cells, some of which may all contain a certain mutation, while others are unchanged. These ambiguous results are indicated by the letters Y (C or T - example 16093Y); R (A or G - example 16034R); M (A or C - example 16183M); W (A or T - example 16189W); N (G or A or T or C - example 16192N). U, S, M, K, V, H, B, D, and X are also used to indicate other combinations of results for the same location."
 



 
 

James Lick's Full Report for My Full Sequence Mitochondria Results

My results are from Family Tree DNA; this report came from James Lick's website. I suppose I should have posted the entire report the first time, but I thought I could keep it brief instead. It seems it isn't that simple, after all.
 
mthap version 0.19b (2015-05-11); haplogroup data version PhyloTree Build 17 (2016-02-18)
raw data source XXXXXX-FASTA.fasta (16KB)
FASTA format was uploaded. Based on the markers found, assuming the following regions were completely sequenced: HVR1 (16001~16569) HVR2 (1~574) CR (575~16000).
Found 16569 markers at 16569 positions covering 100.0% of mtDNA.

 
Markers found (shown as differences to rCRS):

HVR2: 73G 118C 119C 189G 195C 198T 204C 207A 263G (315.1C)
CR: 709A 750G 1243C 1438G 2706G 3505G 4769G 5046A 5460A 7028T 7864T 8251A 8860G 8994A 11674T 11719A 11947G 12414C 12705T 14766T 15326G 15884C
HVR1: 16103R 16189C 16223T 16278T 16292T 16295T (16519C)

 
Best mtDNA Haplogroup Matches:
1) W1(T119C)
Defining Markers for haplogroup W1(T119C):
HVR2: 73G 119C 189G 195C 204C 207A 263G
CR: 709A 750G 1243C 1438G 2706G 3505G 4769G 5046A 5460A 7028T 7864T 8251A 8860G 8994A 11674T 11719A 11947G 12414C 12705T 14766T 15326G 15884C
HVR1: 16223T 16292T

Marker path from rCRS to haplogroup W1(T119C) (plus extra markers):
H2a2a1(rCRS) 263G ⇨ H2a2a 8860G 15326G ⇨ H2a2 750G ⇨ H2a 4769G ⇨ H2 1438G ⇨ H 2706G 7028T ⇨ HV 14766T ⇨ R0 73G 11719A ⇨ R 12705T 16223T ⇨ N 189G 709A 5046A 11674T 12414C ⇨ N2 195C 204C 207A 1243C 3505G 5460A 8251A 8994A 11947G 15884C 16292T ⇨ W 7864T ⇨ W1 119C ⇨ W1(T119C) 118C 198T (315.1C) 16103R 16189C 16278T 16295T (16519C)

Good Match! Your results also had extra markers for this haplogroup:
Matches(31): 73G 119C 189G 195C 204C 207A 263G 709A 750G 1243C 1438G 2706G 3505G 4769G 5046A 5460A 7028T 7864T 8251A 8860G 8994A 11674T 11719A 11947G 12414C 12705T 14766T 15326G 15884C 16223T 16292T
Extras(6): 118C 198T (315.1C) 16103R 16189C 16278T 16295T (16519C)

 
2) W1
Defining Markers for haplogroup W1:
HVR2: 73G 189G 195C 204C 207A 263G
CR: 709A 750G 1243C 1438G 2706G 3505G 4769G 5046A 5460A 7028T 7864T 8251A 8860G 8994A 11674T 11719A 11947G 12414C 12705T 14766T 15326G 15884C
HVR1: 16223T 16292T

Marker path from rCRS to haplogroup W1 (plus extra markers):
H2a2a1(rCRS) 263G ⇨ H2a2a 8860G 15326G ⇨ H2a2 750G ⇨ H2a 4769G ⇨ H2 1438G ⇨ H 2706G 7028T ⇨ HV 14766T ⇨ R0 73G 11719A ⇨ R 12705T 16223T ⇨ N 189G 709A 5046A 11674T 12414C ⇨ N2 195C 204C 207A 1243C 3505G 5460A 8251A 8994A 11947G 15884C 16292T ⇨ W 7864T ⇨ W1 118C 119C 198T (315.1C) 16103R 16189C 16278T 16295T (16519C)

Good Match! Your results also had extra markers for this haplogroup:
Matches(30): 73G 189G 195C 204C 207A 263G 709A 750G 1243C 1438G 2706G 3505G 4769G 5046A 5460A 7028T 7864T 8251A 8860G 8994A 11674T 11719A 11947G 12414C 12705T 14766T 15326G 15884C 16223T 16292T
Extras(7): 118C 119C 198T (315.1C) 16103R 16189C 16278T 16295T (16519C)

 
2) W1i
Defining Markers for haplogroup W1i:
HVR2: 73G 119C 189G 195C 204C 207A 263G
CR: 709A 750G 1243C 1438G 2706G 3505G 4769G 5046A 5460A 5580C 7028T 7864T 8251A 8860G 8994A 11674T 11719A 11947G 12414C 12705T 14766T 15326G 15884C
HVR1: 16223T 16292T

Marker path from rCRS to haplogroup W1i (plus extra markers):
H2a2a1(rCRS) 263G ⇨ H2a2a 8860G 15326G ⇨ H2a2 750G ⇨ H2a 4769G ⇨ H2 1438G ⇨ H 2706G 7028T ⇨ HV 14766T ⇨ R0 73G 11719A ⇨ R 12705T 16223T ⇨ N 189G 709A 5046A 11674T 12414C ⇨ N2 195C 204C 207A 1243C 3505G 5460A 8251A 8994A 11947G 15884C 16292T ⇨ W 7864T ⇨ W1 119C ⇨ W1(T119C) 5580C ⇨ W1i 118C 198T (315.1C) 16103R 16189C 16278T 16295T (16519C)

Imperfect Match. Your results contained differences with this haplogroup:
Matches(31): 73G 119C 189G 195C 204C 207A 263G 709A 750G 1243C 1438G 2706G 3505G 4769G 5046A 5460A 7028T 7864T 8251A 8860G 8994A 11674T 11719A 11947G 12414C 12705T 14766T 15326G 15884C 16223T 16292T
Mismatches(1): 5580T
Extras(6): 118C 198T (315.1C) 16103R 16189C 16278T 16295T (16519C)

 
2) W1c
Defining Markers for haplogroup W1c:
HVR2: 73G 119C 189G 195C 204C 207A 263G
CR: 709A 750G 1243C 1438G 2706G 3505G 4769G 5046A 5460A 7028T 7864T 8251A 8860G 8994A 11674T 11719A 11947G 12414C 12705T 14148G 14766T 15326G 15884C
HVR1: 16223T 16292T

Marker path from rCRS to haplogroup W1c (plus extra markers):
H2a2a1(rCRS) 263G ⇨ H2a2a 8860G 15326G ⇨ H2a2 750G ⇨ H2a 4769G ⇨ H2 1438G ⇨ H 2706G 7028T ⇨ HV 14766T ⇨ R0 73G 11719A ⇨ R 12705T 16223T ⇨ N 189G 709A 5046A 11674T 12414C ⇨ N2 195C 204C 207A 1243C 3505G 5460A 8251A 8994A 11947G 15884C 16292T ⇨ W 7864T ⇨ W1 119C ⇨ W1(T119C) 14148G ⇨ W1c 118C 198T (315.1C) 16103R 16189C 16278T 16295T (16519C)

Imperfect Match. Your results contained differences with this haplogroup:
Matches(31): 73G 119C 189G 195C 204C 207A 263G 709A 750G 1243C 1438G 2706G 3505G 4769G 5046A 5460A 7028T 7864T 8251A 8860G 8994A 11674T 11719A 11947G 12414C 12705T 14766T 15326G 15884C 16223T 16292T
Mismatches(1): 14148A
Extras(6): 118C 198T (315.1C) 16103R 16189C 16278T 16295T (16519C)

 
3) W
Defining Markers for haplogroup W:
HVR2: 73G 189G 195C 204C 207A 263G
CR: 709A 750G 1243C 1438G 2706G 3505G 4769G 5046A 5460A 7028T 8251A 8860G 8994A 11674T 11719A 11947G 12414C 12705T 14766T 15326G 15884C
HVR1: 16223T 16292T

Marker path from rCRS to haplogroup W (plus extra markers):
H2a2a1(rCRS) 263G ⇨ H2a2a 8860G 15326G ⇨ H2a2 750G ⇨ H2a 4769G ⇨ H2 1438G ⇨ H 2706G 7028T ⇨ HV 14766T ⇨ R0 73G 11719A ⇨ R 12705T 16223T ⇨ N 189G 709A 5046A 11674T 12414C ⇨ N2 195C 204C 207A 1243C 3505G 5460A 8251A 8994A 11947G 15884C 16292T ⇨ W 118C 119C 198T (315.1C) 7864T 16103R 16189C 16278T 16295T (16519C)

Good Match! Your results also had extra markers for this haplogroup:
Matches(29): 73G 189G 195C 204C 207A 263G 709A 750G 1243C 1438G 2706G 3505G 4769G 5046A 5460A 7028T 8251A 8860G 8994A 11674T 11719A 11947G 12414C 12705T 14766T 15326G 15884C 16223T 16292T
Extras(8): 118C 119C 198T (315.1C) 7864T 16103R 16189C 16278T 16295T (16519C)

 
3) W1h
Defining Markers for haplogroup W1h:
HVR2: 73G 189G 195C 204C 207A 263G
CR: 709A 750G 1243C 1438G 2706G 3505G 4769G 5046A 5460A 7028T 7864T 8251A 8860G 8994A 11674T 11719A 11947G 12414C 12705T 14766T 15326G 15884C
HVR1: 16145A 16223T 16292T

Marker path from rCRS to haplogroup W1h (plus extra markers):
H2a2a1(rCRS) 263G ⇨ H2a2a 8860G 15326G ⇨ H2a2 750G ⇨ H2a 4769G ⇨ H2 1438G ⇨ H 2706G 7028T ⇨ HV 14766T ⇨ R0 73G 11719A ⇨ R 12705T 16223T ⇨ N 189G 709A 5046A 11674T 12414C ⇨ N2 195C 204C 207A 1243C 3505G 5460A 8251A 8994A 11947G 15884C 16292T ⇨ W 7864T ⇨ W1 16145A ⇨ W1h 118C 119C 198T (315.1C) 16103R 16189C 16278T 16295T (16519C)

Imperfect Match. Your results contained differences with this haplogroup:
Matches(30): 73G 189G 195C 204C 207A 263G 709A 750G 1243C 1438G 2706G 3505G 4769G 5046A 5460A 7028T 7864T 8251A 8860G 8994A 11674T 11719A 11947G 12414C 12705T 14766T 15326G 15884C 16223T 16292T
Mismatches(1): 16145G
Extras(7): 118C 119C 198T (315.1C) 16103R 16189C 16278T 16295T (16519C)

 
3) W1f
Defining Markers for haplogroup W1f:
HVR2: 73G 189G 195C 204C 207A 263G
CR: 709A 750G 1243C 1438G 2706G 3505G 4769G 5046A 5460A 7028T 7864T 8251A 8860G 8994A 9950C 11674T 11719A 11947G 12414C 12705T 14766T 15326G 15884C
HVR1: 16223T 16292T

Marker path from rCRS to haplogroup W1f (plus extra markers):
H2a2a1(rCRS) 263G ⇨ H2a2a 8860G 15326G ⇨ H2a2 750G ⇨ H2a 4769G ⇨ H2 1438G ⇨ H 2706G 7028T ⇨ HV 14766T ⇨ R0 73G 11719A ⇨ R 12705T 16223T ⇨ N 189G 709A 5046A 11674T 12414C ⇨ N2 195C 204C 207A 1243C 3505G 5460A 8251A 8994A 11947G 15884C 16292T ⇨ W 7864T ⇨ W1 9950C ⇨ W1f 118C 119C 198T (315.1C) 16103R 16189C 16278T 16295T (16519C)

Imperfect Match. Your results contained differences with this haplogroup:
Matches(30): 73G 189G 195C 204C 207A 263G 709A 750G 1243C 1438G 2706G 3505G 4769G 5046A 5460A 7028T 7864T 8251A 8860G 8994A 11674T 11719A 11947G 12414C 12705T 14766T 15326G 15884C 16223T 16292T
Mismatches(1): 9950T
Extras(7): 118C 119C 198T (315.1C) 16103R 16189C 16278T 16295T (16519C)

 
3) W1g
Defining Markers for haplogroup W1g:
HVR2: 73G 189G 195C 204C 207A 263G
CR: 709A 750G 1243C 1438G 2706G 3505G 4769G 5046A 5460A 7028T 7864T 8251A 8860G 8994A 11674T 11719A 11947G 12414C 12705T 14766T 15326G 15884C
HVR1: 16223T 16292T 16320T

Marker path from rCRS to haplogroup W1g (plus extra markers):
H2a2a1(rCRS) 263G ⇨ H2a2a 8860G 15326G ⇨ H2a2 750G ⇨ H2a 4769G ⇨ H2 1438G ⇨ H 2706G 7028T ⇨ HV 14766T ⇨ R0 73G 11719A ⇨ R 12705T 16223T ⇨ N 189G 709A 5046A 11674T 12414C ⇨ N2 195C 204C 207A 1243C 3505G 5460A 8251A 8994A 11947G 15884C 16292T ⇨ W 7864T ⇨ W1 16320T ⇨ W1g 118C 119C 198T (315.1C) 16103R 16189C 16278T 16295T (16519C)

Imperfect Match. Your results contained differences with this haplogroup:
Matches(30): 73G 189G 195C 204C 207A 263G 709A 750G 1243C 1438G 2706G 3505G 4769G 5046A 5460A 7028T 7864T 8251A 8860G 8994A 11674T 11719A 11947G 12414C 12705T 14766T 15326G 15884C 16223T 16292T
Mismatches(1): 16320C
Extras(7): 118C 119C 198T (315.1C) 16103R 16189C 16278T 16295T (16519C)

 
3) W1e1
Defining Markers for haplogroup W1e1:
HVR2: 73G 189G 195C 204C 207A 263G
CR: 709A 750G 1243C 1438G 2706G 3505G 4769G 5046A 5460A 7028T 7864T 8251A 8659G 8860G 8887G 8994A 11674T 11719A 11947G 12414C 12705T 14766T 15326G 15884C
HVR1: 16223T 16292T 16295T

Marker path from rCRS to haplogroup W1e1 (plus extra markers):
H2a2a1(rCRS) 263G ⇨ H2a2a 8860G 15326G ⇨ H2a2 750G ⇨ H2a 4769G ⇨ H2 1438G ⇨ H 2706G 7028T ⇨ HV 14766T ⇨ R0 73G 11719A ⇨ R 12705T 16223T ⇨ N 189G 709A 5046A 11674T 12414C ⇨ N2 195C 204C 207A 1243C 3505G 5460A 8251A 8994A 11947G 15884C 16292T ⇨ W 7864T ⇨ W1 8659G 8887G ⇨ W1e 16295T ⇨ W1e1 118C 119C 198T (315.1C) 16103R 16189C 16278T (16519C)

Imperfect Match. Your results contained differences with this haplogroup:
Matches(31): 73G 189G 195C 204C 207A 263G 709A 750G 1243C 1438G 2706G 3505G 4769G 5046A 5460A 7028T 7864T 8251A 8860G 8994A 11674T 11719A 11947G 12414C 12705T 14766T 15326G 15884C 16223T 16292T 16295T
Mismatches(2): 8659A 8887A
Extras(6): 118C 119C 198T (315.1C) 16103R 16189C 16278T (16519C)

Wednesday, April 19, 2017

Mitochondria DNA Haplogroup W1-T119C Confirmed

It had been strongly suggested that my mtDNA haplogroup was W1e, and until I updated myself with more elaborate testing, I couldn't really argue with that assessment. However, I now have confirmation from both Family Tree DNA and James Lick's mtDNA Analysis Tool: I'm definitely W1-T119C. Of course, I suspected as much, because my two matches in the database prior to my upgrade are both the same haplogroup. With the upgrade, I now have five matches (one replacing one of the original two individuals, for some reason). None of them seem very familiar to me, except one has Cranfield (an unusual surname) listed in their family surnames. However, for me Cranfield / Crankfield is a surname exclusive to my paternal lineage. So that doesn't quite add up here.

El Cid's Wilma webpage (Ian Logan, I believe) states: "Ancient DNA results show W+119 was present in Germany 7300 years ago, in burials of the LBK culture. Finds of the same type continue in the later Schöningen, Salzmünde, and Bernburg cultures through 5000 years ago."

James Lick's report was interesting and very thorough as usual:

mthap version 0.19b (2015-05-11); haplogroup data version PhyloTree Build 17 (2016-02-18)
raw data source XXXXXX-FASTA.fasta (16KB)
FASTA format was uploaded. Based on the markers found, assuming the following regions were completely sequenced: HVR1 (16001~16569) HVR2 (1~574) CR (575~16000).
Found 16569 markers at 16569 positions covering 100.0% of mtDNA.


Markers found (shown as differences to rCRS):

HVR2: 73G 118C 119C 189G 195C 198T 204C 207A 263G (315.1C)
CR: 709A 750G 1243C 1438G 2706G 3505G 4769G 5046A 5460A 7028T 7864T 8251A 8860G 8994A 11674T 11719A 11947G 12414C 12705T 14766T 15326G 15884C
HVR1: 16103R 16189C 16223T 16278T 16292T 16295T (16519C)


Best mtDNA Haplogroup Matches:
1) W1(T119C)
Defining Markers for haplogroup W1(T119C):
HVR2: 73G 119C 189G 195C 204C 207A 263G
CR: 709A 750G 1243C 1438G 2706G 3505G 4769G 5046A 5460A 7028T 7864T 8251A 8860G 8994A 11674T 11719A 11947G 12414C 12705T 14766T 15326G 15884C
HVR1: 16223T 16292T

Marker path from rCRS to haplogroup W1(T119C) (plus extra markers):
H2a2a1(rCRS) 263G ⇨ H2a2a 8860G 15326G ⇨ H2a2 750G ⇨ H2a 4769G ⇨ H2 1438G ⇨ H 2706G 7028T ⇨ HV 14766T ⇨ R0 73G 11719A ⇨ R 12705T 16223T ⇨ N 189G 709A 5046A 11674T 12414C ⇨ N2 195C 204C 207A 1243C 3505G 5460A 8251A 8994A 11947G 15884C 16292T ⇨ W 7864T ⇨ W1 119C ⇨ W1(T119C) 118C 198T (315.1C) 16103R 16189C 16278T 16295T (16519C)

Good Match! Your results also had extra markers for this haplogroup:
Matches(31): 73G 119C 189G 195C 204C 207A 263G 709A 750G 1243C 1438G 2706G 3505G 4769G 5046A 5460A 7028T 7864T 8251A 8860G 8994A 11674T 11719A 11947G 12414C 12705T 14766T 15326G 15884C 16223T 16292T
Extras(6): 118C 198T (315.1C) 16103R 16189C 16278T 16295T (16519C)


2) W1
Defining Markers for haplogroup W1:
HVR2: 73G 189G 195C 204C 207A 263G
CR: 709A 750G 1243C 1438G 2706G 3505G 4769G 5046A 5460A 7028T 7864T 8251A 8860G 8994A 11674T 11719A 11947G 12414C 12705T 14766T 15326G 15884C
HVR1: 16223T 16292T

Marker path from rCRS to haplogroup W1 (plus extra markers):
H2a2a1(rCRS) 263G ⇨ H2a2a 8860G 15326G ⇨ H2a2 750G ⇨ H2a 4769G ⇨ H2 1438G ⇨ H 2706G 7028T ⇨ HV 14766T ⇨ R0 73G 11719A ⇨ R 12705T 16223T ⇨ N 189G 709A 5046A 11674T 12414C ⇨ N2 195C 204C 207A 1243C 3505G 5460A 8251A 8994A 11947G 15884C 16292T ⇨ W 7864T ⇨ W1 118C 119C 198T (315.1C) 16103R 16189C 16278T 16295T (16519C)

Good Match! Your results also had extra markers for this haplogroup:
Matches(30): 73G 189G 195C 204C 207A 263G 709A 750G 1243C 1438G 2706G 3505G 4769G 5046A 5460A 7028T 7864T 8251A 8860G 8994A 11674T 11719A 11947G 12414C 12705T 14766T 15326G 15884C 16223T 16292T
Extras(7): 118C 119C 198T (315.1C) 16103R 16189C 16278T 16295T (16519C)


3) W
Defining Markers for haplogroup W:
HVR2: 73G 189G 195C 204C 207A 263G
CR: 709A 750G 1243C 1438G 2706G 3505G 4769G 5046A 5460A 7028T 8251A 8860G 8994A 11674T 11719A 11947G 12414C 12705T 14766T 15326G 15884C
HVR1: 16223T 16292T

Marker path from rCRS to haplogroup W (plus extra markers):
H2a2a1(rCRS) 263G ⇨ H2a2a 8860G 15326G ⇨ H2a2 750G ⇨ H2a 4769G ⇨ H2 1438G ⇨ H 2706G 7028T ⇨ HV 14766T ⇨ R0 73G 11719A ⇨ R 12705T 16223T ⇨ N 189G 709A 5046A 11674T 12414C ⇨ N2 195C 204C 207A 1243C 3505G 5460A 8251A 8994A 11947G 15884C 16292T ⇨ W 118C 119C 198T (315.1C) 7864T 16103R 16189C 16278T 16295T (16519C)

Good Match! Your results also had extra markers for this haplogroup:
Matches(29): 73G 189G 195C 204C 207A 263G 709A 750G 1243C 1438G 2706G 3505G 4769G 5046A 5460A 7028T 8251A 8860G 8994A 11674T 11719A 11947G 12414C 12705T 14766T 15326G 15884C 16223T 16292T
Extras(8): 118C 119C 198T (315.1C) 7864T 16103R 16189C 16278T 16295T (16519C)

Clearly, it is the 119C mutation on my DNA which distinguishes it from both W and W1. My W1-T119C haplogroup has no more relationship to W1e than to most other W subclades, apparently. It is a direct offshoot from W ---> W1. The 7864T mutation differentiates both W1-T119C and W1 from W. My six extra mutations not ordinarily associated with W1-T119C include at least four markers for X, most likely because my mtDNA is supposed to be Cherokee (according to family history). The Genographic Project originally reported my mitochondria as "X", and I still have the certificate to prove it.