SELL Color FASTA
The longest form of insertion/deletion sites is shown in the FASTA sequence and contain a '-' as the alternate allele in the variation tag.
*Display courtesy of
GeneSNPs
G
C
T
G
T
G
G
G
T
T
T
G
T
C
A
T
A
A
A
T
A
G
C
T
C
T
T
A
T
T
A
T
T
T
T
G
A
G
A
T
A
C
G
T
T
C
C
A
T
C
50 |
REPEAT
A
A
T
A
C
C
T
A
G
T
T
T
A
T
T
G
A
G
A
G
T
T
T
T
T
A
G
C
A
T
G
A
A
G
G
G
G
T
G
T
T
G
A
A
T
T
T
T
A
T
100 |
var(84):[A:0.04]
C
C
A
A
G
G
C
C
T
T
T
T
C
T
G
C
A
T
C
T
A
T
T
G
A
G
A
T
A
A
T
C
A
C
G
T
G
G
T
T
T
T
T
G
T
G
A
T
T
G
150 |
var(118):[C:0.21]
|
var(137):[T:0.05]
G
T
T
C
T
G
T
T
T
A
C
G
T
A
A
T
G
G
A
T
T
C
T
G
T
T
T
A
T
T
G
A
T
T
T
G
T
G
T
A
T
G
T
T
G
A
A
C
C
A
200 |
var(161):[T:0.03]
G
C
C
T
T
G
C
A
T
T
C
C
A
G
G
G
A
T
G
A
A
G
C
C
A
A
C
T
T
G
A
T
T
G
T
G
G
T
T
G
A
T
A
A
G
C
T
T
T
T
250 |
var(210):[C:0.01]
T
G
A
T
G
T
G
C
T
G
C
T
G
G
A
T
T
C
A
G
T
T
T
G
C
C
G
T
A
T
T
T
T
A
T
T
G
A
G
T
A
T
T
T
T
C
G
C
A
A
300 |
var(297):[A:0.02]
T
G
A
T
G
T
T
C
A
T
C
A
G
G
G
A
T
A
T
T
G
G
C
C
T
G
A
A
A
T
T
T
T
C
T
T
T
T
T
T
T
G
T
T
G
T
G
T
C
T
350
C
T
G
C
C
A
G
G
T
T
T
T
A
G
T
A
T
C
A
G
G
A
T
G
A
T
G
C
T
G
G
C
C
T
C
A
T
A
A
A
A
T
G
A
G
T
G
A
G
G
400
G
A
G
G
A
G
T
T
C
C
T
C
T
T
T
T
T
C
T
A
T
T
C
T
C
T
G
G
A
A
T
A
G
T
T
T
C
A
G
A
A
G
G
A
A
T
G
G
T
A
450
C
C
A
G
C
A
C
C
T
C
T
T
T
G
T
A
C
C
T
C
T
G
G
T
A
G
A
A
T
T
T
G
G
C
T
G
T
G
A
A
T
C
C
A
T
C
T
G
G
T
500
C
C
T
G
G
G
C
T
T
T
T
T
T
T
A
G
T
T
G
G
T
A
G
G
C
T
A
T
T
A
A
T
T
G
C
T
G
C
C
T
T
A
A
T
T
T
C
A
G
A
550
A
C
T
T
G
T
T
A
T
T
A
G
T
C
T
A
T
T
C
A
G
G
G
A
T
T
T
G
A
C
T
T
C
T
T
C
C
T
G
G
T
T
T
A
G
T
C
T
T
G
600
G
G
A
G
G
G
T
G
T
A
T
G
T
G
T
C
C
A
G
G
A
A
T
T
T
A
T
C
C
A
T
T
T
C
T
T
C
T
A
G
A
T
T
T
T
C
T
A
G
T
650
T
T
A
T
T
T
G
T
G
T
A
A
A
G
A
T
G
T
T
T
A
T
A
G
T
A
A
T
C
T
C
T
G
A
T
G
G
T
A
G
T
T
T
G
T
A
T
T
T
C
700 |
var(658):[C:0.37]
T
A
C
G
G
G
A
T
C
A
G
T
G
G
T
A
A
T
A
T
C
C
C
C
T
T
T
A
C
C
A
T
T
T
T
T
T
A
T
T
G
T
G
T
C
T
A
T
T
G
750 |
var(741):[A:0.06]
A
T
T
C
T
T
C
T
T
T
C
T
T
A
T
T
A
G
T
C
T
A
G
C
T
A
G
T
G
G
T
C
C
A
T
C
T
A
T
T
T
T
G
T
T
A
A
T
C
T
800
T
T
T
C
A
A
A
A
T
G
C
A
G
C
T
C
C
T
G
G
A
T
T
T
A
T
T
G
A
T
T
T
T
T
T
G
A
A
G
G
C
T
T
T
T
T
C
G
T
G
850
T
C
T
C
T
A
C
C
T
C
C
T
A
T
G
G
T
T
C
T
G
C
T
C
T
G
A
T
C
T
T
A
G
T
T
A
T
T
T
C
T
T
G
T
C
T
T
T
C
G
900
C
T
A
G
T
T
T
T
T
G
A
A
T
T
T
G
T
T
T
C
T
T
A
A
C
C
T
C
T
T
T
G
A
G
A
C
T
C
T
T
T
A
G
A
A
T
G
G
G
G
950 |
REPEAT
A
T
A
A
T
A
A
T
C
A
T
A
T
C
T
A
T
A
G
C
A
G
A
G
A
G
C
T
G
T
T
A
T
A
A
A
G
A
T
T
A
A
A
C
A
A
T
A
T
A
1000
A
T
A
A
A
T
A
T
G
G
G
G
C
G
C
T
G
A
G
C TTCAGAGTTT TTGTTGTTGT TATTATTATT
1050
TTCCTAAAAA TGCAAATCTG ATTTGCATTT GACTCATTGA CTCACATCAG
1100
TGGGTCTTCC TTTTTATTGT CCTTCATCAT ATGGGTCCTA ATTTCACATG
1150
CAGTCTTATA AAACCATCTC ATTTTATAGT CCAAGAATAT TAAAGGTACT
1200
TGTAGGCTCC CAAACCTACA
C
GGTGAAAAG CTAGAGAGCA TGGGCTCTCT
1250 |
var(1221):[T:0.02]
TCAGGGGTTA ACTTCAGGAA GTGCCACTAA CAAGGACGTC C
A
CTAGGTGG
1300 |
var(1292):[G:0.21]
TGAGCAAGGA AAGACGGAGG TGAAGGAACC GAAACGAGTC AAGTCCACTG
1350
CTTAGCTCTA CTGAAGTTTT GCAAACATCA TAAATATGTC TGAAATGCAG
1400
TTTTGATTTG TAGTATTTGC AATTTCCAAG GGCCATTTAC CACAGGTAGC
1450
CAAGAGTTAG TTTAGCATTT ATGAAAAAGA TAGGGGAGGG TGGTGGAAAA
1500
GAAGGAGGAG GAGGAGAGAG AGAAGGAGGA AGAGGAGAAC AAGAACCAAA
1550
CAAAAACAAG AACAAGAACA AGTAGAAGAA GAGGAGCAGG AGGAAAAAGA
1600
AGAGGAAGAA GAACAGCAAC AACAATGAGT GAAGGAGGAG GAGGGTAAGG
1650
AAAGATGCAT AGGAGAATGG AAGGAAGGAT AGAAAGGAGG GAAGGAAGAG
1700
AGAATCTAGT CACATTACTT TCTGATCAGC AGTTCATTTT TGTCTCAGTG
1750
GGAGGCAATA GAGGCCAGTC TAGGAAAGGG GTGGGGAAAG AGGAAAGAGA
1800
AGTGCAGGAG GAAGGGGAGG GAAAAGGGGA GGAGGAGGAG GATGTGAGAC
1850
TGGGTTAGAG AAATGAAAGA AAGCAAGGCT TTCTGTTGAC ATTCAGTGCA
1900
GTCTACCTGC AGCACAGCAC A
C
T
C
C
C
T
T
T
G
G
G
C
A
A
G
G
A
C
C
T
G
A
G
A
C
C
C
T
T
1950 | Exon 1 |
UTR
G
T
G
C
T
A
A
G
T
C
A
A
G
A
G
G
C
T
C
A
A
T
G
G
G
C
T
G
C
A
G
A
A
G
A
A
C
T
A
G
A
G
A
A
G
G
A
C
C
A
2000
A
G
C
A
A
A
G
C
C
A
T
G
GTGAGCCT TTCAGCCTAA AAGACGTTTA GATGCTCAGA
2050
M 1
TAGAAACTCT TGGGGTTGTA GAGGCAGGTG GCAAGGATAG GAATCACCCC
2100
ATTTCAATTC TGGTTTTAAA TAATATAGAA ACTAAACATT TTCTCAGA
C
C
2150 |
var(2149):[T:0.02]
CTCAAAAAAA GTGATCCTGA AATCTTTCTT CTCAGATATG CTGATTTCCT
2200
CTT
C
T
T
G
A
C
T
T
T
G
T
C
T
C
T
G
G
G
G
A
G
A
C
T
C
T
T
G
A
A
G
A
A
A
T
A
C
T
A
T
T
G
A
A
A
T
C
2250 |
REPEAT
A
G
A
T
C
T
T
T
T
G
C
A
A
TAAACAC TGTGTCTACC TGAGAAGTGA TATGCTTTGG
2300
AAGATAGAA
T
T
T
T
T
T
T
A
A
A
A
T
T
A
T
A
C
T
T
T
A
A
G
T
T
C
T
A
G
G
G
T
A
C
A
T
G
T
G
C
A
2350 |
REPEAT
C
A
A
C
A
T
A
C
A
G
G
T
T
T
G
T
C
A
C
A
C
A
T
G
T
A
T
A
C
A
T
G
T
G
C
C
A
T
G
T
T
G
G
T
G
T
G
C
T
G
2400
C
A
C
C
C
A
T
T
A
A
C
T
C
G
T
C
A
T
T
T
A
C
A
T
T
A
A
G
T
A
T
A
T
T
T
TAAGG TGTGCAGGAA
2450 |
var(2414):[A:0.01]
ATTTGTGACT TTGTCATTTC AGTTG
C
TCAA AAAGGTATTT CTTTTTATTA
2500 |
var(2476):[T:0.03]
AAAAAAGAAA TACTTTTCTT TCCTGGTGTC TGGCTATCTA ATTTTTTTTT
2550
TTTTTAGGTA TTTGAGGCAT TGAC
C
CATTA TGATCAAGAG TGAGGCTATA
2600 |
var(2575):[T:0.07]
ACATTAAATA TAAGCATCAA TAGTTAATTA AGCAGCAACA ATACTTTAAA
2650
AAATATACAT AGTAAATATT
A
AATAGTTTT ATCTAATAGC TCAGCAGAAA
2700 |
var(2671):[T:0.03]
AGCAGGTATA AAAATTACCA AACCATAGAA AAAATTCAG
G
GCAGTACCGA
2750 |
var(2740):[C:0.04]
TTAGCAACTT GAGACTAAAG CGTAAAAATA AAATAGAACA AAACAAAACT
2800
GTGCATCAGT TCTGATGTAA ATTTGAAGTA ATTTTTCATC TATGTCTGAG
2850
AAACCTGTTA CCTCAGACAG GGTTAG
T
AGA CATATGTGTT TTATTCTGAT
2900 |
var(2877):[C:0.02]
TATTAAGAAA GTTGTAAGCA CCACCTCAAA GGCTATAAAT GTGTGGTTTA
2950
AGAGTATACA TCTAAATATA ATTTTGTATT TCATTTGCAG
A
T
A
T
T
T
C
C
A
T
3000 | Exon 2
I F P 4
G
G
A
A
A
T
G
T
C
A
G
A
G
C
A
C
C
C
A
G
A
G
G
G
A
C
T
T
A
T
G
G
A
A
C
A
T
C
T
T
C
A
A
G
T
T
G
T
G
G
3050
W K C Q S T Q R D L W N I F K L W 21
G
G
G
T
G
G
A
C
A
A
T
G
C
T
C
T
G
T
T
G
T
G
GTATGTTA TGATATTTAT ATATC
G
CTAA
3100 |
var(3053):[T:0.02]
|
var(3096):[A:0.18]
G W T M L C C 28
GTCTATTTTA CTTATATTCA TTTTTCTTAA ATATCCACTA GTTATACATA
3150
GTCTAAGGGA AAATTATTTC ACAGAG
A
G
CT GTTAATTCTA TCCCTTCTGT
3200 |
var(3177):[:0.72]
AAACATCTCT TTTCTTCTTA CCTTTAGTTC TTCCCCAGAA ACTCCTGAAC
3250
ACTATTTTTA ACCTATAATA GCCCATGCTG TAGAGTTCAA AT
C
CCAATAA
3300 |
var(3293):[T:0.02]
CCCCACAAAA TCCCTCAATT ATAAAGGAAT AATGTTAATT AAGAAATCTC
3350
TGTTAAGGTA CTTACAATCT GTACCAAATA TTTAGCACCT CATTTTCTAT
3400
TTTTTATTCA TAGTTCAGTG TACATTAATG TCATTTCTAC AATTACAATA
3450
CGAGCTTATT AAGGGACGGG G
G
TTTATCAT TTTTTGGTCC TTCTCCCATT
3500 |
var(3472):[C:0.37]
GTTGTGACAA ATTTTATATC TGATTCTTGA AGACTCTCCA GCAATAGCTT
3550
TGAACTTGGT TTTTCATTTC CTAAGTAAAC TAATGTCTTC TTTCTCCCTA
3600
GCCTGGATTT TCAGCTCTAG CCAAGCAAAC ATGCTAACTC TCCCGTTCAC
3650
ACATTCCTTA TGCCATGTCT GCACTGTGTC ACATAGAAAC TTAGTGCTCT
3700
T
T
T
C
A
T
A
C
A
A
C
A
G
G
T
A
T
T
T
T
C
T
G
A
G
T
C
C
C
T
A
C
A
A
T
G
T
G
T
G
A
A
A
T
T
T
A
T
G
C
3750 |
REPEAT
T
A
G
G
C
A
C
T
A
A
G
G
A
T
A
C
A
G
C
A
G
T
G
G
A
C
A
C
A
A
C
A
G
T
T
T
T
T
T
C
C
C
T
C
T
T
A
G
A
A
3800
C
T
T
G
C
A
T
T
C
T
A
G
T
G
G
A
ATGC TCATTCAAAA CTCTGTTCAA AATGTTTATT
3850
TTATGATGCT CTTTACCATC AATTATATCT GTTTCTTTAC TGTATTAAAT
3900
AGTGATTCAT GTAGATCATA CCATGCTTAG AATGCCATAT ATTATTATG
A
3950 |
var(3950):[T:0.03]
AGTCATTGTG TAATTATGTG TTTAATTAGA TATCTTCAAA GCCCTCATAT
4000
TTGATGGGTC CATATGTTTA TTAAACATCA TCAGTTGAGT CTCTTTGTGT
4050
ATAGAACATG ATCTAATGAA TTTCATAATC CTATACCATT TGGCTTTGTA
4100
AATTGTTCTT TTTAAAAATT ATACAGTTAG ATATATAAGA GTTGAGTGGT
4150
ATATTGGGCT TTTCCAGAAG CAGTTCTTCC TATGGTAAAA TAAAATGTTT
4200
TTTATGTAAA AGAGGTTACT TAAAAGTATG TCACTGTTCT TCCTGTCCTT
4250
ATTATGCTTC TCCCATAGGT ACATATGTGT TGGCCTTCAA GAAATGATTC
4300
CAGGATTAAA AAGTATA
C
GT AAATTGTATA GTTATATGAT ATTACAC
G
GT
4350 |
var(4318):[T:0.07]
|
var(4348):[T:0.33]
AATTAGTTGT AAATCATTAA CAGCTACAAA GAAAAAGAAA TATGAATGTC
4400
TAAAATATGT TGGTTAAATT TCACCTGAAA TAATTTTGAG AAAAAAATTA
4450
ATAAGAAAAT AAACCTAGAA AACCACTAAA TTTGTTTCAA ATAGAACCT
T
4500 |
REPEAT
A
G
A
T
A
A
A
A
G
C
A
T
C
T
T
A
T
A
T
T
C
A
A
G
C
C
A
G
A
A
G
G
T
C
T
A
G
G
T
T
C
T
A
C
T
T
C
A
A
A
4550
T
C
T
G
C
A
A
A
C
A
A
C
T
A
T
T
C
T
G
T
G
A
T
C
C
T
G
A
G
A
T
G
G
T
C
A
C
A
T
A
C
A
C
T
C
T
T
A
G
G
4600
C
T
C
T
G
T
T
T
C
C
T
C
A
T
C
T
C
T
A
A
G
T
G
T
C
T
A
G
C
T
C
A
G
C
C
T
G
G
A
G
T
A
G
T
G
C
T
A
G
G
4650 |
var(4627):[G:0.29]
T
T
C
T
T
T
T
T
A
G
C
T
G
T
A
A
C
A
T
T
A
T
G
T
A
A
G
T
C
T
GCATAGGTCA CACTGATGTC
4700
TTGCAG
A
T
T
T
C
C
T
G
G
C
A
C
A
T
C
A
T
G
G
A
A
C
C
G
A
C
T
G
C
T
G
G
A
C
T
T
A
C
C
A
T
T
A
T
4750 | Exon 3
D F L A H H G T D C W T Y H Y 43
T
C
T
G
A
A
A
A
A
C
C
C
A
T
G
A
A
C
T
G
G
C
A
A
A
G
G
G
C
T
A
G
A
A
G
A
T
T
C
T
G
C
C
G
A
G
A
C
A
A
4800
S E K P M N W Q R A R R F C R D N 60
T
T
A
C
A
C
A
G
A
T
T
T
A
G
T
T
G
C
C
A
T
A
C
A
A
A
A
C
A
A
G
G
C
G
G
A
A
A
T
T
G
A
G
T
A
T
C
T
G
G
4850
Y T D L V A I Q N K A E I E Y L 76
A
G
A
A
G
A
C
T
C
T
G
C
C
T
T
T
C
A
G
T
C
G
T
T
C
T
T
A
C
T
A
C
T
G
G
A
T
A
G
G
A
A
T
C
C
G
G
A
A
G
4900 |
var(4873):[C:0.01]
E K T L P F S R S Y Y W I G I R K 93
A
T
A
G
G
A
G
G
A
A
T
A
T
G
G
A
C
G
T
G
G
G
T
G
G
G
A
A
C
C
A
A
C
A
A
A
T
C
T
C
T
T
A
C
T
G
A
A
G
A
4950 |
var(4942):[C:0.27]
I G G I W T W V G T N K S L T E E 110
A
G
C
A
G
A
G
A
A
C
T
G
G
G
G
A
G
A
T
G
G
T
G
A
G
C
C
C
A
A
C
A
A
C
A
A
G
A
A
G
A
A
C
A
A
G
G
A
G
G
5000 |
var(4972):[C:0.03]
A E N W G D G E P N N K K N K E 126
A
C
T
G
C
G
T
G
G
A
G
A
T
C
T
A
T
A
T
C
A
A
G
A
G
A
A
A
C
A
A
A
G
A
T
G
C
A
G
G
C
A
A
A
T
G
G
A
A
C
5050
D C V E I Y I K R N K D A G K W N 143
G
A
T
G
A
C
G
C
C
T
G
C
C
A
C
A
A
A
C
T
A
A
A
G
G
C
A
G
C
C
C
T
C
T
G
T
T
A
C
A
C
A
G
GTAGGGA
5100
D D A C H K L K A A L C Y T 157
GTGA
C
AAGAC GGCTATGCTG CCTCAGACTC AGGAAGGGCC ACG
G
TTAAGA
5150 |
var(5105):[G:0.03]
|
var(5144):[C:0.01]
GAATACTCAG ATTTACCCCA TGGAAAGGTG GGGGGATGAG AACAGCTTCT
5200
GGTTCATTCT AAAATACATC TAGCCCTCTA TATAATCTTG CATCGTGTCA
5250
CTCCTAAGAA TTTTTGGTGT GTAAGATTTG TCCCT
G
TGCA CAAAAGCTAT
5300 |
var(5286):[A:0.01]
ACCCCTAAAT CAAGTTACAT CAAAATGATA GATCTA
C
GTA GGAAGTACAG
5350 |
var(5337):[T:0.01]
AGGAAGA
G
CT AGACAATCAG TGCCTTTGAT AATAAGGCAG GGGAGGAGAA
5400 |
var(5358):[A:0.27]
GCTGACAGCT GGGGCCAGTT GGAAACTTAG GCTCACATCA CCTCAGTTTT
5450
CACATTGTGA AGTAGAGAGT GTGGTGCTGC GTGCTTCCTT CTTGGTCTAA
5500
CCTTATATAA TTTTATATAA AAATTGCACT
A
TCTTTGGTG TATGAATATT
5550 |
var(5531):[G:0.20]
TCTGTAAAAT CTTCT
A
CAAT TCCAAAACAG CCAGCATTTT CCAAGTGATG
5600 |
var(5566):[G:0.01]
TTTTAATAAT GAACCATAGT TAATTTGGTC TCTTATAAAT TGGACTCTAC
5650
C
GTTTTAGCA AATTTGGACT TTTTAATCTT TGATTTCTAT AAAGAAAGGG
5700 |
var(5651):[T:0.27]
ATTGCCAAGA AATAATTGCA TGCAGAAATG ATTGAGGTCA GGTCATCATT
5750
TAACCTTCTC ACTCATTAAA AACAAGTAAT TTCAAGAGTT TCAAGGTATG
5800
CCACTAAG
T
T TCCTATA
A
GT GTTACAGAAT ATTAGTATTG GTAATTTCAT
5850 |
var(5809):[C:0.07]
|
var(5818):[G:0.01]
TCCAAAAGCA AATAAATGCC TATGACTATA TGCTTAGTGT ATTTT
A
TACG
5900 |
var(5896):[G:0.01]
TAAAAATTTT AGCATATGAT TTTTATGCTA TGAATTTACA AATAAACCTT
5950
TCCTGATTAT TTAAATCATC TCAGACAAAA GGTTATCTAT GTCTAAAGAA
6000
ATGACTTTGA GTACTAAAAT GTAATCACAT TAAAATATTT TTTTTCTGAC
6050
CTCCTTAAAG
C
T
T
C
T
T
G
C
C
A
G
C
C
C
T
G
G
T
C
A
T
G
C
A
G
T
G
G
C
C
A
T
G
G
A
G
A
A
T
G
6100 | Exon 4
A S C Q P W S C S G H G E C 171
T
G
T
A
G
A
A
A
T
C
A
T
C
A
A
T
A
A
T
T
A
C
A
C
C
T
G
C
A
A
C
T
G
T
G
A
T
G
T
G
G
G
G
T
A
C
T
A
T
G
6150
V E I I N N Y T C N C D V G Y Y 187
G
G
C
C
C
C
A
G
T
G
T
C
A
G
T
T
T
G
GT AAGTCTCTTT CCTTTCTTTG CTTCTTCTTA
6200 |
var(6165):[C:0.22]
G P Q C Q F 193
GGTAAAGTCA CAGGAATCAT TATAGCTTAT CATGAAGCTG GTTGGAACAA
6250
AATGATACTA GCCACTCTGA GAAATGGGAA GTTTTGATCA GAAAGCTCTG
6300
CTTTCACAAT AT
T
GTTACCT TTCCGTAAA
G
ATTTCATAAG TCAGCATGAA
6350 |
var(6313):[G:0.01]
|
var(6330):[T:0.03]
GTTTCG
A
T
T
C
A
C
T
T
C
T
C
A
A
C
A
A
G
T
C
T
T
T
T
T
G
A
G
T
A
C
C
A
C
A
A
G
A
A
G
C
A
C
A
G
6400 |
REPEAT
|
var(6358):[C:0.18]
T
G
T
T
G
G
G
A
T
A
A
A
A
G
C
T
G
T
C
A
G
G
G
T
T
A
C
C
A
T
A
A
G
G
A
A
T
T
A
G
C
A
T
G
G
T
A
G
A
T
6450 |
var(6428):[A:0.27]
T
C
C
C
G
C
T
C
T
C
A
A
G
A
A
G
C
T
C
A
C
G
A
T
C
T
A
A
T
G
A
G
CTTGTTAG ATTAATTAGA
6500
ACTCTAAGGT CTGGAAGAAA CTATGCCATT TATCATTAGG AGGCTGAGTT
6550
ACCCAGAAAG TATCTTGCTT TTTCCTTCTA GTAGTTCCTT TCCTTCTTGC
6600
AGTTCTCCAC ACTTAACACA TGTGCTCTGT AGCACACTGA
C
T
T
T
G
C
T
G
G
T
6650 |
REPEAT
G
G
C
C
T
T
C
T
C
T
C
T
C
A
T
T
T
T
G
C
A
C
A
T
G
G
C
C
A
A
A
A
A
A
C
A
T
G
T
C
A
T
C
T
T
T
A
A
G
A
6700
C
A
T
T
G
T
T
C
A
A
A
G
A
C
A
G
T
T
T
C
T
T
C
T
A
G
G
A
A
G
C
T
T
T
C
T
T
A
G
T
T
C
T
G
A
T
A
G
C
T
6750 |
var(6719):[C:0.02]
|
var(6736):[C:0.20]
C
C
A
C
A
T
A
T
T
T
C
T
T
C
C
T
C
A
T
T
T
C
T
C
C
C
A
C
T
T
A
T
G
T
T
G
A
A
G
T
C
A
T
C
T
G
T
T
C
A
6800
C
T
T
G
T
C
C
G
T
C
T
C
C
T
C
T
G
G
T
A
C
T
G
A
A
A
A
C
T
T
C
T
T
G
A
G
A
T
C
A
G
T
A
A
G
T
G
T
C
C
6850
T
A
T
T
T
A
T
C
A
T
T
G
C
A
T
C
T
T
T
G
G
G
A
T
C
C
A
C
A
A
A
A
T
G
C
C
T
G
T
A
T
A
T
A
T
G
A
G
G
C
6900
A
C
T
TGCTTGT GAGCCTGAAT TGAATTGGAC AATTTAATTT TTT
A
AAAAAG
6950 |
var(6944):[T:0.27]
CAATGTTTGT AAACAATAAA GAATTAAAAC CAAAATACAT TTAAATGTCA
7000
ACCAACTGAA ATAGATCTAT AGATCTAACT CATTTCACTT GATCCCTGGG
7050
CCATGACTCC TTCCTAATAC TTTACCCTCA CCCCATTTTT GAACTCTATT
7100
TTTTAACCCT TATGTTATTG GTATGCCTAT TTTACTCATT TTTAATTATT
7150
GGTATGCCTA TTTCACTCAT TTTTAACATT TTACTTTTCT TTGTCTTGGT
7200
TTCTCTCATA TCACTCTTTT CTCATTCTTT CTACCTGTGA TCATTTCTCC
7250
TGAGATCCTT CATGAGCACT TATCCAGGAC CATAAACTAC TATAATTTCT
7300
C
A
GCTTTTGT CTTTTGTATA TTGCTCTTCT GACTCTAATC TACATGTATC
7350 |
var(7302):[G:0.06]
CTTTGGTCAA ACTTACTGAC TTTTGCGGAC TCACAAATCT ATGTGATCTT
7400
TGGACTGATA AGCCTAT
C
TC CAGCTCTGAA CTCAAATATG
C
TAAGGATGT
7450 |
var(7418):[T:0.03]
|
var(7441):[T:0.10]
CCTTTGGGAT GTTTAAAAGA CTATAAAACC AATTGTTCCC AGTCAGCTTT
7500
TCTCTTCGTA TTTCTTATCT CAGTATGTGG AATCACCATT TACATGGGCA
7550
CCCTGGTATG AGACTCTCTT AACTCCCCCA ACATTTATGC AGGGTAACAT
7600
TCTACCAATT TTTACAACTT AGTGTTTTTC TAATTTGT
C
T
T
C
C
A
C
T
T
G
T
C
7650 |
REPEAT
A
A
C
T
C
T
A
C
T
A
C
C
A
T
T
G
C
C
G
T
C
A
T
T
A
T
C
T
T
T
C
T
T
C
T
A
G
A
T
T
C
T
T
G
C
A
A
T
A
G
7700 |
var(7668):[T:0.06]
T
T
T
A
T
T
A
G
A
T
G
A
G
T
T
C
C
A
C
A
A
T
T
T
T
A
A
A
T
T
A
G
C
T
C
C
C
C
T
C
A
A
A
T
A
C
A
T
T
A
7750
T
T
C
A
T
A
C
T
A
C
A
G
G
G
A
G
A
C
T
G
A
T
C
A
A
T
T
A
A
A
A
G
C
A
A
T
T
A
A
A
A
C
A
C
A
T
C
A
CA
7800
CATACATGAC AATCCACCCA TTAATTTCT
A
CCTACCATTT TGTCCTACAG
7850 |
var(7830):[G:0.03]
GGTGAAATCT AAGCTCTTCA AGCCCCAGAG TAATGCTTGA TATATAATAG
7900
ATACTCTTTA AATCAATGAA AAAAGATAAC ATTTTCTCTT AGTTCCCATG
7950
TTTCTCCCTA ATCTCATCTC ATATAGTTTC CAAATACAAA AATTCTTCTG
8000
ATTCCTTGAG TCCATTCTTC CTTGAAGTCT CTAGAGCAAG GTAGCAATAA
8050
TGGCTTAAAT
T
TGACAGATG AGGAATAAGA CATGAAAGT
T
GTACTGTTTA
8100 |
var(8061):[C:0.20]
|
var(8090):[G:0.06]
CTAAA
T
GGCA TGGCAGGGTC TAAAATGTGA AAACTTTGAT TTCCAAGTCT
8150 |
var(8106):[C:0.06]
TAAATTTACC TATTGTACCA CCAATCAGAA CAGGGAAATA GATACAGTTT
8200
CTGGA
G
AGGG TTGTCAAAAT CAAAAGAGTT AAAATTCTGG AACTGAG
C
TA
8250 |
var(8206):[T:0.04]
|
var(8248):[A:0.06]
GAATAGAAGA CAGAATTGAG GTCAAAATGC TTCCTAGACT TTTATATTCT
8300
CTCCTTGCAA AGAAGGCTTA TTATGGAGAC CCACTCTTTC TCTGAACATC
8350
TTGCTCCCAA TACTCTAGTA GACTCAGGGG CTCTGATGTG ATAGTTATTT
8400
CCCGACTAAG CTGGTCATTC CCAGTTACAC CTATTTGGCT TTAAGGATTC
8450
TCACTACAGA TAATGCTGAA GATAATAATA TGAAGAC
T
A
G
C
T
A
A
T
G
T
T
T
A
8500 |
REPEAT
C
T
T
A
G
A
A
T
T
T
C
T
G
A
T
G
A
G
T
C
A
G
G
C
T
T
T
G
T
T
C
T
A
A
G
G
T
C
C
T
T
G
A
C
T
T
A
T
G
C
8550 |
var(8535):[C:0.06]
T
A
A
T
T
G
A
A
T
T
A
C
A
T
T
T
A
G
T
T
T
C
C
A
T
A
T
C
A
A
T
T
T
G
A
T
A
A
A
G
A
T
A
A
C
A
C
A
A
T
8600
T
T
C
A
T
T
A
T
T
C
C
T
C
T
T
A
T
A
T
A
G
A
T
G
A
A
G
A
A
A
C
T
G
A
A
G
T
T
G
G
A
G
G
G
T
T
C
A
A
G
8650
T
A
A
C
C
T
T
G
T
T
T
A
A
A
G
G
C
A
C
A
T
G
G
T
T
A
T
C
A
A
G
T
G
G
C
A
G
G
G
C
T
A
G
G
A
T
T
C
A
A
8700
A
T
C
C
A
G
G
C
G
T
C
A
G
T
T
C
C
T
C
T
T
A
A
C
T
C
T
T
C
C
C
C
A
T
A
C
T
G
T
T TCTTTCCCTA
8750
TTGAAG
T
G
A
T
T
C
A
G
T
G
T
G
A
G
C
C
T
T
T
G
G
A
G
G
C
C
C
C
A
G
A
G
C
T
G
G
G
T
A
C
C
A
T
G
8800 | Exon 5 |
var(8777):[C:0.01]
V I Q C E P L E A P E L G T M 208
G
A
C
T
G
T
A
C
T
C
A
C
C
C
T
T
T
G
G
G
A
A
A
C
T
T
C
A
G
C
T
T
C
A
G
C
T
C
A
C
A
G
T
G
T
G
C
C
T
T
8850 |
var(8813):[T:0.20]
D C T H P L G N F S F S S Q C A F 225
C
A
G
C
T
G
C
T
C
T
G
A
A
G
G
A
A
C
A
A
A
C
T
T
A
A
C
T
G
G
G
A
T
T
G
A
A
G
A
A
A
C
C
A
C
C
T
G
T
G
8900
S C S E G T N L T G I E E T T C 241
G
A
C
C
A
T
T
T
G
G
A
A
A
C
T
G
G
T
C
A
T
C
T
C
C
A
G
A
A
C
C
A
A
C
C
T
G
T
C
A
A
G
GTGAGTAA
8950
G P F G N W S S P E P T C Q 255
CTTCAGACTA GAGGTTTTGT CATGCAATCC TGGGCTTACA GTCAGAACAT
9000
TCAGTAGAAG TTTGCTGAGA AGTCAAACTT AGGAGCCTAA TTTAACCTAA
9050
CTTTGTTTAA CCTACTGTGA TGTTTCTCAA AGGACTTATT CTAACTAAA
T
9100 |
var(9100):[:0.02]
TTTTTTGAAA AACCTCCCAA ACAAAAAGTA AAAACCAAAT ACCCCTGAAG
9150
CCATCTCCCA GTGTGTAACA TGACTTATAG CAATACAGCA TGGTTATACT
9200
GTGTTTTTTA TTTTTCTCAT TGCCATTGCA TAAATAATGT CTTGTTGAAC
9250
CTCAGTTACA TTTTGGTTCT TCTCCTCTCA ATAACACCTG TTTTATGTGG
9300
TGTCCTACTT AATACCAACC AGTTTCCTTC CCAGGGTAGT GGAGGTCTTT
9350
CTTGGTTGTT TTATTTGGCT TATTCTTAAA ATCACTTT
T
A CTTTTCCTCA
9400 |
var(9389):[A:0.01]
TGCATAAACT TTTAGGAGAA TAACAACTGA AAAACAAAAA CACAATCTCT
9450
TGATCTTTTC AAGTTTGAAA TAAGGTAGGT TTTTTTTTTT TTTTCATTTT
9500
TAACTGCCAA CCTTAT
C
T
C
C
A
T
A
T
G
G
G
A
G
A
A
A
A
C
C
A
A
T
G
T
C
A
T
C
T
G
A
A
C
T
9550 |
NOT SCANNED
T
A
C
G
A
A
G
T
T
T
T
G
G
T
T
A
A
C
T
T
T
T
C
T
A
C
A
A
G
T
A
T
G
C
T
C
C
T
G
A
T
G
C
A
T
T
A
G
T
T
9600
T
A
A
G
T
A
G
T
T
T
A
A
T
T
C
T
T
A
G
A
A
G
T
G
C
T
A
T
C
A
A
A
A
T
C
C
C
T
T
A
T
T
G
A
A
A
T
T
A
T
9650
A
A
A
A
C
T
G
T
C
A
A
C
C
C
A
C
C
T
A
C
T
G
G
A
A
T
T
T
A
C
G
G
A
A
G
T
T
G
G
A
C
T
T
G
C
T
T
C
A
G
9700
T
G
A
A
T
T
G
G
G
A
T
G
T
T
T
T
T
C
A
A
A
A
T
G
C
T
T
G
G
G
T
A
G
A
T
A
T
C
A
G
A
A
C
A
G
A
T
G
A
A
9750
A
C
G
G
C
A
G
A
G
A
T
T
C
T
C
T
G
A
G
A
A
T
A
T
C
C
C
A
T
A
A
G
A
G
C
C
C
T
T
G
A
T
G
C
A
G
A
G
G
C
9800
C
A
T
A
T
G
G
C
A
T
G
G
T
A
C
T
T
C
C
A
G
C
A
G
A
A
G
G
G
G
A
G
G
G
T
C
A
C
C
T
T
A
G
C
T
A
G
G
G
C
9850
A
G
C
A
G
C
C
T
G
G
A
G
T
A
G
C
T
A
C
T
C
C
T
C
T
C
C
C
C
A
C
A
G
C
T
T
T
C
A
A
T
G
C
T
T
C
C
T
T
G
9900
C
C
T
T
C
A
T
C
T
C
T
C
A
T
T
C
A
C
C
A
C
C
C
A
C
C
A
T
CA TTCTCAAGAA AATAAAGCCT
9950
GGAAGCAATA TCACAAGTAA TGTAGTCAGG CAGCTTTGGC TAAAAATCCT
10000
TTGCTCAAGG GAGGGTCTCT ACTCAGAAAT ACTGTTTTGT CTTTTTTTTT
10050
TTTTTCTTTT TCATTGAAG
T
G
A
T
T
C
A
G
T
G
T
G
A
G
C
C
T
C
T
A
T
C
A
G
C
A
C
C
A
G
A
10100 | Exon 6
V I Q C E P L S A P D 266
T
T
T
G
G
G
G
A
T
C
A
T
G
A
A
C
T
G
T
A
G
C
C
A
T
C
C
C
C
T
G
G
C
C
A
G
C
T
T
C
A
G
C
T
T
T
A
C
C
T
10150
L G I M N C S H P L A S F S F T 282
C
T
G
C
A
T
G
T
A
C
C
T
T
C
A
T
C
T
G
C
T
C
A
G
A
A
G
G
A
A
C
T
G
A
G
T
T
A
A
T
T
G
G
G
A
A
G
A
A
G
10200
S A C T F I C S E G T E L I G K K 299
A
A
A
A
C
C
A
T
T
T
G
T
G
A
A
T
C
A
T
C
T
G
G
A
A
T
C
T
G
G
T
C
A
A
A
T
C
C
T
A
G
T
C
C
A
A
T
A
T
G
10250
K T I C E S S G I W S N P S P I C 316
T
C
A
A
A
GTGAG TAAGTTTGTC CTGGAAAACT GAAATCTTAA
C
GATGGAGCT
10300 |
var(10291):[T:0.02]
Q 317
GATGGAT
G
AG CAGATATGAG GAAAGACATA CATAAACATT TACATGTTGT
10350 |
var(10308):[A:0.17]
TTTGCTAAGA ATATGTGGCC TAGAAATAAA TTTGTATGCT TAACTCACTG
10400
T
A
A
A
A
T
C
T
T
T
G
G
C
T
G
G
T
C
T
T
T
C
C
T
C
C
T
C
C
T
T
T
A
A
T
G
A
C
A
A
T
C
A
T
T
T
C
C
T
T
10450 |
REPEAT
T
T
T
T
T
G
T
T
C
T
C
A
C
C
T
C
T
T
G
C
C
A
T
C
T
T
A
A
C
T
C
C
T
A
A
A
A
T
C
T
G
A
A
C
T
C
A
C
T
G
10500
A
T
T
T
A
C
T
T
T
T
T
A
C
C
C
A
T
T
C
T
T
C
T
A
T
T
C
C
A
C
T
A
C
A
A
T
C
T
A
A
C
A
T
C
T
C
T
G
T
T
10550 |
var(10550):[C:0.06]
A
G
C
C
C
A
T
T
G
A
A
A
T
G
C
C
T
G
T
A
A
A
A
G
G
T
C
A
C
T
A
A
T
G
A
C
C
A
C
C
T
A
C
T
T
C
C
C
C
A
10600
A
A
T
A
A
T
G
G
A
T
A
C
T
C
C
T
G
A
A
T
C
A
T
C
A
CTAAG CTAATGCCTC CAAAATCTAT
10650
CTGTATATGA GAAGAATCA
T
G
T
C
T
T
G
T
T
C
A
T
C
T
T
T
G
T
A
T
A
C
C
C
T
C
C
A
C
C
T
10700 |
REPEAT
G
A
C
A
C
A
G
T
G
C
C
T
G
G
C
A
A
T
A
G
G
T
G
C
T
A
A
A
G
C
A
A
A
T
G
C
A
T
G
T
T
A
A
GCTAGCA
10750 |
var(10726):[G:0.03]
TGTGAAAGAA TAGCTACCTG TGTCTGCTCC TGAGACTATC TGCATGGATG
10800
ACAAAAGTCT TTAAATGGTA GGATCTACAG AAGCTGTCAG AAATGCTGAT
10850
CTCTGTGTGC TG
C
GTGCCCA GGGCCAGGGA GTAGAGTGGA TGAGCAGAGA
10900 |
var(10863):[T:0.06]
GAGGCAGGGA GGCCTTTAGC AGAGGACTGT GTATTAGGCC TATCAGAGAC
10950
ATTTCCCTTT AAGGCCTAGC TAGTGTTCAT TTCCTCCTCA TCTTCATCAA
11000
GCCAACAGGT ACCTTCTGTC TGGAGCTCCT GGGAACTTGA GCCTTCTCTC
11050
AATCATATAT TTGGGTGTGG GGATCAAATC ACCTTGAAAA GGTTCATCAA
11100
AGTAATGGGA AGAACTAAGG ATAGAATCAG ACCCTCTGCC AATATGTAAA
11150
AAAGTAGATT CCTTCAAATG TT
A
GTATCAG GAGACAGATT TTTTT
T
T
ATA
11200 |
var(11173):[C:0.32]
|
var(11196):[:0.19]
CCAGTATTTT CAAATAGAGG CTCCCAAATG AACTTAG
T
TT ACACTTACAA
11250 |
var(11238):[C:0.19]
GAGTATCTCT AAAC
A
TGCCC TTTTACTTAT TCGTGAAGGA AGTAGAGGGA
11300 |
var(11265):[T:0.06]
AGTGGTAACT AC
T
GCATTGG AAA
G
AAATTA GTGCAGGTCC TTGGCATGTA
11350 |
var(11313):[:0.19]
|
var(11324):[C:0.10]
AAAATCAAGT GCTTATTTTT GCA
C
AACTGC TTTAAAGTAA AAGCATTAAT
11400 |
var(11374):[G:0.06]
GATTTCCTTT GAC
T
GGTGAA TTATCCAGTT CAG
A
TCATTG GCTTTTATTT
11450 |
var(11414):[G:0.06]
|
var(11434):[C:0.06]
TTCCTGAAGT TGTATTAGGC TTTTAGCTCT TCTCTGTGTT TCAGAGTTCC
11500
AG
T
CATTGAA CAAGTCCATG GAGCTAAATA CAA
C
GATGAC CATTCTTGCC
11550 |
var(11503):[A:0.17]
|
var(11534):[T:0.17]
AACATTTTTA GG
T
GCATTTT CAGGAACTCT ATGAACCACA AATCTGGGCA
11600 |
var(11563):[G:0.17]
TTGAGATTCT GTAGGCATTA GACTAGCAAG GCTGGTCCAG TCTTTGCCTA
11650
TGCTGTAGAC TCATCAGGGG CCTTCCCATG CCAGTTTCCT CATCTGTCAA
11700
ATGGCATCA
A
A
TGGGCTACT ACTGGGAGAT GTAAGGAGGA AAAAAGTCAA
11750 |
var(11710):[T:0.06]
|
var(11711):[T:0.06]
ATATCATGAG ATAGACTAAG GAAATAATGC TG
G
TGGTCTC ATGCTATGTG
11800 |
var(11783):[A:0.02]
CCTTACTGAT TTCTCTTTCA G
A
A
T
T
G
G
A
C
A
A
A
A
G
T
T
T
C
T
C
A
A
T
G
A
T
T
A
A
G
11850 | Exon 7
K L D K S F S M I K 327
G
A
G
G
G
T
G
A
T
T
A
T
A
A
C
C
C
C
C
T
C
T
T
C
A
T
T
C
C
A
G
T
G
G
C
A
G
T
C
A
T
G
G
T
T
A
C
T
G
C
11900
E G D Y N P L F I P V A V M V T A 344
A
T
T
C
T
C
T
G
G
G
T
T
G
G
C
A
T
T
T
A
T
C
A
T
T
T
G
G
C
T
G
G
C
A
A
G
G
A
G
A
T
T
A
A
A
A
A
A
A
G
11950
F S G L A F I I W L A R R L K K 360
GTATGTGAGT TTAACTTCAC ATGAAAAGAA CACAACTTTA AAGTGAAAAA
12000
GAAAAAAAAA AGAAACCCAC AGGAAATTAA ATGTGATAGA TTCAACACAA
12050
GCAGGATGCC AAGCTTTACA TTCTAGAGCC ATCAGTCCCT GGAGACATGT
12100
AAATCAGCCC AGGACACACC TTCATTAAAA CAGGTTGGCT GATTTTCGCT
12150
TTTCATCTGA TAAACTTTTA AAAATGTCTA TTACCTTCAA GGCA
G
CTTGC
12200 |
var(12195):[A:0.17]
TAGGCTGATA ACAACTAAGT GAGATATTCT AATGGTTCTT TGCTCTTATG
12250
TAATTCTTTA ATAC
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
A
G
A
G
C
C
T
C
A
C
T
C
T
G
T
C
A
C
C
12300 |
REPEAT
A
G
G
C
T
A
G
A
G
T
G
C
A
G
T
G
G
T
G
C
A
A
T
T
T
C
A
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
G
C
C
T
T
C
T
12350
G
G
G
T
T
C
A
A
G
C
T
A
T
T
C
T
C
C
C
A
C
C
T
C
A
G
C
C
T
C
C
C
A
A
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
12400
G
A
G
C
G
T
G
C
C
A
C
C
A
T
G
C
C
C
A
G
C
T
A
A
T
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
C
A
C
G
G
G
12450 |
var(12418):[T:0.01]
G
T
T
T
C
A
C
T
G
T
G
T
T
A
G
C
C
A
G
A
G
T
G
G
T
C
T
C
G
A
T
C
T
C
C
T
G
A
C
C
T
C
G
T
G
A
T
C
T
G
12500 |
var(12488):[G:0.02]
C
C
T
G
C
C
T
T
G
G
C
C
T
C
C
C
A
A
A
G
G
G
C
T
T
G
G
A
T
T
A
C
A
G
G
T
G
T
G
A
G
C
C
A
C
C
A
C
G
C
12550
C
T
G
G
C
C
TGCT CTTAATTAAT TCTGAAAAAA TGACACACTA TCTCTGTCCT
12600
CTAAGAGCCT ACATGCCTTG GATTTCAATG CTACAATTCC ACTAGGAAGT
12650
GGGTCTAATG TCCACTAAGG TTTCAAGGCA CTGCTCCCAA ATACCTGACC
12700
TCTTCAAGAG TCACCTGGTT CCCAACACAT GGGCA
T
TGCA TTAACCCTGG
12750 |
var(12736):[C:0.03]
GAGAAATTCC C
A
T
G
T
A
T
T
C
T
C
C
C
A
A
G
T
A
T
C
T
A
T
T
C
A
C
C
A
A
G
G
C
C
A
C
A
G
C
T
12800 |
NOT SCANNED
C
T
A
A
C
C
A
A
A
T
G
C
A
C
C
A
T
A
T
A
T
G
C
T
T
T
C
C
A
A
C
C
A
T
C
C
G
T
C
A
C
T
G
G
A
G
A
G
G
A
12850
A
A
A
G
A
G
A
A
G
G
A
G
G
A
C
T
G
CCT TGAGAAGTTA ACATCTGCTG CCCAGATTAT
12900
CACTCCCTTT ACCTTAAG
G
C ATGAGTGTGT CTCAGCTTTA AAGT
G
TGAGC
12950 |
var(12919):[A:0.10]
|
var(12945):[A:0.02]
AACCCACTAG CCTGCAGCAG GCCTTGGGTG TATGGTGCCA CATTTGGCCA
13000
AACTCACCTG GAAGAACCAT TCAAGGCTGT AACATTCATG GACATTGGGC
13050
AGCTTTTAAG ATATACCTGT TTT
G
G
C
C
A
G
G
T
G
T
G
G
T
G
G
C
T
C
A
T
G
C
C
T
G
T
A
13100 |
REPEAT
|
var(13081):[C:0.02]
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
C
G
G
G
C
G
G
A
T
C
A
T
G
A
G
C
T
C
A
G
C
A
G
T
T
13150 |
var(13131):[A:0.01]
C
A
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
T
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
13200
A
A
A
A
T
T
A
G
C
C
A
G
G
C
G
T
G
G
T
G
G
C
G
G
G
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
G
G
G
A
13250 |
var(13247):[A:0.01]
|
var(13249):[A:0.01]
G
G
C
T
G
A
G
A
C
A
G
A
A
G
A
A
T
C
A
C
T
T
G
A
A
C
C
C
G
G
G
A
G
G
C
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
13300
C
T
G
A
G
A
C
C
G
C
A
C
C
A
T
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
T
G
A
C
A
G
A
G
T
G
A
G
A
C
T
C
T
G
T
C
13350 |
var(13308):[T:0.02]
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
GATATACCTG TTTCAAGTTC AGGGATGATC
13400
TC
G
AAACAAT TGCTAACCAA CTGCTCTGTG TTGCCTTTCT GTGGGCTCAG
13450 |
var(13403):[A:0.13]
TTGATTGTCA TTTTAATTTT CCTTCCATCA AATTAGTTAG TA
C
GTATTCT
13500 |
var(13493):[T:0.04]
GTTCACT
G
AA TATGGTATGT AAAGGTTGCC CCCTGTCCAT TTACACTGGC
13550 |
var(13508):[A:0.07]
AATTACAAAA ATATTATTTA TCAGTCCCTA ATTGCGTGCC ACTCTGAT
C
T
13600 |
var(13599):[T:0.01]
TATCTTTCAT TTAAATTTGA GAATAGTGGG
T
GCTA
G
GTAA GTTTTCTAAC
13650 |
var(13631):[C:0.26]
|
var(13636):[A:0.08]
CAATCCAGAA AGACAAAGTG TGTGAGGGGG GTGGGGATTG TTGATATGCA
13700
AGA
A
CTTCAT TAGCTATGTA TAACCTGAGA GCACTGAGCA GTTAAAATGT
13750 |
var(13704):[G:0.18]
CTCTGCCCTT GCTATTAGAA ATTCTGTGCT GATTGAATCT CACT
A
TCTTA
13800 |
var(13795):[G:0.06]
TAGTATTATA CAGTACTAAG TACTATACAG TACTAAGTAT AAGTATCAAG
13850
TACTGCATTA AGGCAAAAGA AGAATGACAG TTTTCTCCAA CCACTGATTA
13900
TTCTTTCCAT TGAGACTTCA AATCTTGACC CCGGTTGTCC TGTCTTTCTT
13950
CCTACCTTGG GCGATGATGG CAGAACTGAC GGATAGAGAA CAGGGTGGGT
14000
TATTACACAC TGCCCCCTGG GATAAGGTGG CTATTGTCTA
A
A
T
AATTTTA
14050 |
var(14041):[C:0.01]
|
var(14043):[C:0.07]
AGGACTTTGG
G
GCTGTAAGT CACCTTAATA AGGAAGCT
A
T TTATTTCCGA
14100 |
var(14061):[T:0.02]
|
var(14089):[T:0.02]
ATTCTAAAAT CTTTTAATAA GTGTTTGTAG AATCAAAAGA ATAGAATCAA
14150
ACTCATTTGC ATGTAGTGAG GGGTTAGCTG GCTAAGGCTG TTTTATAAGC
14200
AA
G
GGTAAAA AAATTAGAGG GGTTGTTTTT AAATTTTTTA CCTTGGAGTC
14250 |
var(14203):[C:0.04]
ATTTCTGTAC AAGATCTCAA ACCGATAACT TGAAAACTGC TGTGGGAATC
14300
AGTGTGGGGC AAACAGGAAA CAGATAACGG GCAGTTAGGC TAGTTACAGT
14350
TATGCCAACA AAGAAAACAG AAGCCCCAAA AGATCACTGG CTTGGTAGGA
14400
AGCTTAGGGT ATCTTTAAGA TAACATTAAA TAGTCTTCAT CTGTG
G
G
C
C
A
14450 |
REPEAT
G
G
C
A
C
C
T
T
G
G
C
T
G
T
C
A
C
C
T
C
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
T
G
G
A
G
G
C
T
G
A
G
G
C
A
G
14500
G
A
G
G
A
T
T
A
C
T
T
G
A
G
C
C
C
A
C
G
A
G
T
T
C
A
A
G
A
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
T
G
G
C
G
A
14550 |
var(14517):[A:0.01]
A
A
C
C
A
C
A
T
C
T
C
T
A
C
A
A
A
A
A
T
A
C
A
A
A
A
A
A
T
T
A
G
T
C
A
G
G
C
A
T
G
G
T
A
G
C
A
T
G
C
14600 |
var(14582):[T:0.01]
A
C
A
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
C
C
A
G
G
A
G
A
C
T
G
A
G
G
T
G
G
G
A
G
G
A
T
C
A
C
T
T
G
A
A
C
14650
C
C
A
G
G
A
G
G
T
C
A
A
G
G
C
T
G
C
A
G
T
A
A
G
C
C
A
T
G
A
C
A
G
C
A
C
C
A
C
T
G
C
A
C
T
C
C
A
C
A
14700 |
var(14672):[G:0.27]
A
C
A
G
A
G
T
G
A
G
G
C
C
C
T
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G TCTTCATTTA
14750 |
var(14730):[G:0.27]
TAAAACAACA TCTTCCATTT TCACCAACTT ACAAATGATT CTGCTTTCCA
14800
AAGATTTTAG TTGTAGGTTG GTCCTTTAAA ACATGAAGAG TATTTTTCCT
14850
ATGGAGGCAA TGGTAGAAAT AATGGCTACA TTCCCAGGCT AAATCTAAGA
14900
CAAAATATAG TTAATGGCAT TTACAAGGAT AAAAGTAAAA AGTCATAAAT
14950
CTCTATGTGT GTGTTTAGGT GTGTGTGTGT GTCTATGTGT GTGTGTATAT
15000
GTATATATAT ACACAGAGAG AGAGAGAGAG AGAGAGAGAA TTTATAGGCT
15050
TTTTGGGTTC TAATAGTTAG AAAAAGGGCA CAGGTAACTA TTTAGAGCAT
15100
GGTAGCCAAT GAAGTGACTA GAGCCTTCAC CCCTATTCTT CTGTCCTCAG
15150
ATGAATCTTC TGACTCTAGC ACTTTGTCCC CTGCCCTAGT AGTCTTAGTA
15200
TGGAGACTTT CCCTCCTTTC TTTTAGGAAA GGAATAAGGA ACAGTTCCAG
15250
AAACATGTGT CCTTGTGCAT GGGCTCATCT AGACACATTT TGTGC
A
CCAG
15300 |
var(15296):[T:0.44]
GCATTATCAT TTTCTGATTA GTCACTACCA TTGGCCCTGT TTGGTAAATA
15350
AGGAAACCAG GGCAATGATG TTTTAGGCCA AATCTCAAAA ATACCATATC
15400
AGCAGGACCC AGAGTCAGAG ATTAGACTCC AGTCCAGATA CATCTTCTAA
15450
AATCACTGGT CTTCAGATTT GTGAACTGGT TTTTTCCTCG GTTGGAAGAA
15500
TTTCCCACCA GAACCAACAC ACAGGGTTAG ACCAGGGCAT GAAACTGAAC
15550
ACATGCCCCC TTAGTTCCTT TTTCTTCAAA ATGAAACTCT CTCAGTAGGA
15600
ACAGATTCTT ACTCATCTAT TGCTGTTAGG TTCATCATC
C
CTAAAAAAAA
15650 |
var(15640):[A:0.16]
TATTTATGTG AAG
C
TAACCA GAATCTGAAA TTAATTCAGA TTTGATTCCC
15700 |
var(15664):[T:0.43]
CCTGCTCAAG TGCACTTGGT CATCAGCAGG CTGAATTTTA GAAGAAAAGA
15750
TTTCAAATAG TAGTCTTTAA TACTTTAAA
G
GATTAA
A
A
C
A
G
T
A
A
T
G
C
A
A
C
15800 |
var(15780):[T:0.24]
|
REPEAT
A
C
T
G
T
C
T
A
C
G
T
G
C
T
A
G
G
A
C
C
T
G
A
A
C
T
A
A
A
T
A
C
T
T
G
G
A
A
A
T
A
T
T
T
T
A
T
T
T
T
15850
A
T
C
A
A
C
C
C
A
A
T
G
A
G
G
A
T
G
A
T
A
C
A
A
T
T
A
T
T
A
T
G
C
C
T
C
T
T
T
A
A
C
A
G
A
T
G
A
A
G
15900
A
A
A
T
T
G
T
A
G
T
T
T
A
G
A
A
A
A
G
A
A
A
G
T
A
G
C
T
G
T
T
C
A
A
A
T
A
C
A
C
A
C
T
A
C
A
C
T
A
C
15950
A
G
G
T
G
G
C
A
A
A
A
T
A
G
G
G
C
T
T
T
C
A
C
C
T
G
G
G
T
A
G
G
A
T
G
A
T
T
C
T
A
G
A
A
T
G
C
C
A
C
16000
T
T
T
A
C
A
G
C
C
A
C
T
G
A
A
A
T
A
T
A
T
T
G
CCTCCCA AATGATTCTT TCTGCTCAAA
16050
GAG
T
TTTTTT TA
A
G
T
T
A
TCT ACTTATTTAT ATTCTGCTTT TTTCAAAAAG
16100 |
var(16054):[A:0.24]
|
var(16063):[:0.02]
AATGTGAGAA CAGTACAAAA TGTGTTCAGT ATAGCAAATT AAAATTAA
T
T
16150 |
REPEAT
A
A
A
A
A
G
T
A
A
G
A
A
A
A
A
G
A
A
G
C
C
A
A
T
T
T
G
G
G
C
A
A
C
C
C
A
C
T
C
G
G
G
T
C
C
C
C
T
T
C
16200 |
var(16190):[A:0.01]
C
A
C
G
C
T
G
T
G
G
A
A
G
C
T
T
T
G
T
T
G
T
T
T
C
G
C
T
C
T
T
C
G
C
A
A
T
A
A
T AAATGAGCTT
16250
GATGTTTTAT TGAGTACAAA AAAAAAAAAA AGAAAGCCAA ATTTAAACTT
16300
AGGGTACAAA AATCATTTGG AACCAAGGTT GAAGTTATGG CACAAAAATG
16350
TATGTCACAA AGTTTTATAT ACTTGGTAGG AGAGGGTCTC AGATCTAGCT
16400
CTGAGTTTCC TTACAGCCAG TCAAAGGAGA ACCATGTGAT ATTCCTTGTG
16450
TTTGTAAGAT AAAAACACAT TAGTTACTCA GATGAGGCTG CACAATTCCT
16500
ACCAACAAGA
C
CAAAGTGAA ATTCTCTTGT GGATTCTCAT AGAGATGATG
16550 |
var(16511):[T:0.03]
CTGTGAGCTG TAATGGCACA TAGTTTTACA GTATTAGCAG CTGTCCCTCA
16600
AGGGAAGAAT CTGCAGGTAG GATGAGATGG CAGATTGGGA AGGGATAAAC
16650
ACTTGAATGG ACATATTGGG TCTTGCCACC AGGCAATTTA GCAATTCTGT
16700
CTTCTTGAGT AGCACGGAGA ATGGAATGGA ACCTCAGGAG GCATCTGCAT
16750
CAACATGTCT GTTCTGTATT AGTGTCTACC ACTGTTTATT AAGCCAGTTC
16800
CTCAAATCTC CTTTGACACA GATAGGGTCC ACCTAACAAA TACCTAATAT
16850
ACTTCAAAAG ACAGTTTTGA GAGTGGGAGT CTTCCTTCTC CCTTACTTGA
16900
AAAACTT
T
AA ATTGTCTAAT TTTTGCTAAT GCCTTTTCTC TATTTTCTAT
16950 |
var(16908):[G:0.01]
TTTCAG
G
C
A
A
G
A
A
A
T
C
C
A
A
G
A
G
A
A
G
GTAAG TTTTATTAGT GGCGAGGAGT
17000 | Exon 8
G K K S K R S 367
TTCCACATCT GCTGATTC
A
T TCTCTACTTC CTTAAGTTAC TTCCTGCTCT
17050 |
var(17019):[G:0.43]
AGCTAGACAC ATTAACCCCA TAGTAGTTTA TTTACCTGGG GTCCTCATC
C
17100 |
var(17100):[A:0.24]
AAATGACCAG ATAAGGTGAT AAATCTACTA GCTTCCTTTC AGAGCTGTGC
17150
TTTTTGGTGC TAGTGGAGCT GAATGAATGA ATGAACGAAC AAGTAATCCC
17200
TATTAGAAAA GGGCAGTTTA TGTAAAGGGA GATTTTTCTG ATTACCTCAG
17250
AATTTTTTCT GAGGGTTAAA AACATTGTGG TGTGTTCTTC TTGTTCTTAA
17300
ATATATTATT TAAGAAATAT TCAA
T
TGAAC AAGCACTTAT TGAGAAATGA
17350 |
var(17325):[C:0.06]
ATAAATGCTT ATTCAATTGA CTATTTGCAT TCAATTGCTC TAACAGGCAT
17400
TGTCCTTCAG AAATGTGGGA AAGATAGGGA GCATGAATTC TACCTACAGC
17450
TTCCCCAAGG AGGCAAGTAT TTTTCAGTTT GGTCTTGAAG CTCAAATTTC
17500
TTCTACTGGA GAAATAGCAC AGTGGGAGGA GATGCAGACA TGTGAAAGTT
17550
GATGGCCCAC CTGGCAGAAA TGAAGATGGA AAAATATTTC TCAGTATCTA
17600
GGGTTTAGTG ACTTGCTCTG GAATTTTAGG AAGGAGAGTT TAAGTAAAAT
17650
AAACTATGAA AGGAGGACTT TGGTGACATA TTCAGTACCC AGCTGGACAA
17700
CTGAGCTTCC TTTAAAATGC TAGAAATGAA GTGAGATGAT TTCTGAAGGG
17750
ATTGGATGCT GGTTTGGGCA ACCATCCTAC CAA
T
CACAAA CTTAGTATGG
17800 |
var(17784):[C:0.43]
GCCATTGCTT AGAAT
G
C
A
A
A
G
G
A
A
A
A
A
G
T
G
G
G
G
A
A
A
A
A
T
G
A
G
G
C
A
C
C
A
G
A
17850 |
REPEAT
A
G
C
C
A
G
A
T
C
A
T
A
A
A
C
T
A
A
T
G
T
A
T
A
A
G
C
C
A
T
G
T
G
A
T
A
T
G
G
G
C
T
T
T
A
T
C
T
T
G
17900
A
G
G
T
C
T
T
T
T
G
G
G
A
T
A
T
C
A
C
T
A
A
A
G
G
G
G
T
T
T
A
A
A
C
A
G
T
G
A
G
T
A
G
C
C
T
T
A
C
C
17950
T
C
T
G
G
C
A
T
C
T
T
A
T
A
A
G
G
T
C
A
C
C
C
T
G
C
A
G
A
G
C
A
G
T
A
T
G
G
C
A
A
G
T
G
T
G
G
G
A
G
18000 |
var(17986):[C:0.01]
A
C
A
G
G
T
G
A
G
C
C
T
G
G
A
T
T
C
A
A
A
G
A
G
A
C
T
T
G
T
T
T
T
G
G
A
G
G
C
A
T
T
T
G
C
A
G
T
T
A
18050
T
T
A
G
A
T
T
A
A
A
A
C
C
G
A
T
G
G
C
G
C
C
T
G
T
C
T
A
G
G
G
A
A
C
T
A
G
T
A
G
T
A
A
G
A
A
T
G
G
G
18100
T
T
C
A
T
G
A
A
A
T
A
A
G
A
G
G
A
G
G
T
G
A
T
A
T
T
A
A
C
T
G
A
A
T
G
T
G
T
C
T
G
T
T
A
A
T
T
G
G
C
18150
T
A
A
A
A
G
T
G
A
G
A
G
A
G
A
A
G
A
A
T
C
A
A
A
T
T
A
T
C
A
T
C
T
T
T
C
T
C
A
C
C
T
G
G
A
A
A
C
T
G
18200
G
C
G
G
A
T
G
G
T
A
G
T
C
C
T
G
T
T
T
A
C
T
T
C
T
G
A
G
A
A
G
G
G
A
A
C
A
T
A
A
A
A
G
A
A
T
G
A
G
A
18250
G
G
T
T
T
T
G
G
A
G
G
T
A
A
A
G
A
T
C
A
T
G
G
G
T
T
C
A
G
T
T
T
T
G
T
A
C
T
G
A
G
C
T
T
T
G
G
G
T
G
18300 |
var(18269):[G:0.17]
T
A
T
G
C
A
C
A
T
C
A
T
T
C
A
C
T
G
T
G
G
C
T
C
A
T
T
G
G
A
C
C
T
A
T
C
C
A
A
A
G
C
A
C
A
G
A
G
G
C
18350 |
var(18303):[C:0.01]
|
var(18336):[G:0.01]
T
A
T
G
G
C
A
G
G
A
G
A
A
G
T
G
G
A
T
T
T
G
G
G
T
C
C
C
T
C
A
C
A
T
T
T
C
A
G
G
A
G
G
T
A
A
C
T
G
C
18400
C
A
T
C
T
C
A
G
G
A
G
T
G
G
G
T
A
C
T
A
T
C
A
T
C
C
A
G
G
G
A
G
G
G
T
G
T
G
A
G
T
G
C
T
T
T
A
A
G
A
18450
A
T
G
G
A
A
G
A
G
G
A
C
C
T
G
G
G
A
G
A
G
A
G
T
A
T
G
G
G
A
G
C
C
A
G
A
G
G
A
A
C
A
T
C
A
T
T
A
T
C
18500
T
A
A
T
A
A
G
T
C
A
C
C
T
A
A
G
G
G
A
A
A
G
A
G
A
A
A
T
G
A
A
A
A
G
A
T
G
T
T
G
C
C
A
G
G
C
A
G
G
G
18550
A
G
A
A
G
G
A
A
G
A
G
G
A
G
A
A
A
G
A
G
T
G
T
G
G
G
G
T
A
A
T
G
A
A
T
G
C
C
A
A
G
G
A
A
A
C
A
A
A
G
18600
A
A
A
G
G
G
G
A
A
C
G
G
T
T
T
C
A
A
A
C
A
T
T
G
C
C
A
A
G
A
G
A
A
C
C
A
G
T
A
A
G
T
A
T
C
C
C
C
T
G
18650
G
A
T
G
C
A
A
C
A
A
G
G
G
T
G
T
C
A
G
T
G
G
G
G
A
G
A
C
T
A
T
T
T
G
C
A
G
T
G
C
A
G
A
C
A
T
C
A
A
G
18700
A
C
A
G
A
G
G
T
C
A
G
A
C
G
G
C
C
A
A
G
C
A
T
T
G
A
G
C
A
T
T
A
C
T
G
A
G
G
A
T
G
A
G
A
A
A
G
T
A
G
18750 |
var(18713):[T:0.07]
A
G
A
C
A
G
A
A
C
A
A
G
C
A
G
T
C
A
T
C
T
C
T
T
T
T
A
A
A
A
T
G
T
T
T
G
G
C
T
G
T
G
A
A
G
G
A
G
A
A
18800
G
T
G
G
G
G
C
A
G
G
G
G
T
A
A
C
T
G
G
A
T
G
A
G
G
A
T
G
T
A
C
G
A
T
C
A
G
T
G
G
A
G
G
T
T
C
T
T
T
T
18850
T
A
T
T
C
T
T
T
TT AATTACTCTG TCTTCTCTTT ACTAGTGCAA ATGGAGTCTA
18900
GTGAGGAAAG GCTTCTTTCT CTGGGCTGGT CTCCCTATGT CTGTGGCAGG
18950
AAACCCACAG ATGTGAAGAT TTCTTTCAAA CTCGCACCTA CTGAGTGAAA
19000
GTATTTTCTG GCACAATCTA CCCAGAGCTG TTTTCTGGCT ACCGGAACCA
19050
CCTGTTTTAA TTGCCACTAG ATGGAAGCAG ATCAACTAGA TTTTTTTTTT
19100
TTAAGATGTC CTTGAGGCAC AGGAGGAGAG ACTGGCTGGA AGAATATTAG
19150
CAAAAAGCTA ATTACCATGC TAAGCAAATT GCTATATTAA GTTTAATGGT
19200
TCACTGA
T
TT TTTATAATCA GTCAATTAAT AGTTGTTTAT TGAACATTTT
19250 |
var(19208):[A:0.17]
TGTGTTGGAA A
C
TGCTAAGC TT
T
CTTGAGA CAGCAAGAGG AGTCAGCCTG
19300 |
var(19262):[G:0.01]
|
var(19273):[C:0.06]
GTCCCTGATT TCAGGAAAAT TATTACCTAG CTGGGGAGTT AAGACAGGAA
19350
TATAGAAAGA AAAAAATCAG AAAAATACAA GGCAGAGCAT GGTAATGGCC
19400
AATGGGTGCT ATATTTAAGA AGGAAAAGGT CATTTGGCTT GGTGGTTATA
19450
GAAAAT
G
TTA TAAAGAAGGT TGCTTATGAA GAATAGATAG GATTTAGGTA
19500 |
var(19457):[A:0.01]
TATGGAGAAA AGCAGGAAAG GAAGGCAGTC TGTAGGAAGG AAATTGTGTA
19550
AGCAGTGGTA TGGTAGTGAG A
C
TATGAAAG CATTTTTCAG GGGCCACTGA
19600 |
var(19572):[A:0.12]
GCAGAACTTT CTTGAGCCCA TGGCTTATTG AGGAGTTGTG GAGTTGAAGT
19650
TGGAAAGGAA GGCTGGCCCC AA
T
AACATAA GTCTTGAATG CTTCACCAGA
19700 |
var(19673):[C:0.45]
TGGTCTAGAA AGGCCTAGCA AAGAAGAATT ATTTGCCCAG CTCTCATTTA
19750
TTGACCAAGG CTGTATTAAT TCATAAGAAT
C
ACAGAATTC TAGGTCTGAA
19800 |
var(19781):[T:0.02]
TATGATCTTG GTGGATATCA CATTCAAACT CTTTTTGTAG TTGAACTAAT
19850
TAAGTAAGTT TTCTATAGGC CTTGA
G
CAAG TGACAGAGTT AGTTAC
A
A
T
A
19900 |
var(19876):[A:0.02]
|
REPEAT
A
T
C
A
T
A
A
A
C
C
T
T
T
A
T
C
A
A
A
T
A
T
T
A
A
T
T
C
C
A
T
G
T
T
G
T
A
T
A
C
T
G
T
T
A
T
G
A
A
T
19950 |
var(19909):[A:0.45]
G
G
T
T
T
A
C
A
T
G
T
C
T
T
A
A
A
T
C
A
T
G
A
A
A
T
A
T
G
C
C
T
T
T
A
A
G
T
C
T
G
T
G
G
G
A
G
A
A
G
20000
G
G
T
C
T
A
T
G
A
A
C
A
T
C
T
T
C
A
T
T
A
C
T
G
A
T
A
A
A
G
A
A
A
C
A
G
G
C
A
C
A
G
A
G
A
A
A
T
A
A
20050
A
A
T
A
G
C
C
T
G
A
G
G
T
C
A
C
A
A
T
A
A
A
T
G
G
C
A
A
T
G
C
T
G
A
G
A
T
C
C
A
T
A
C
T
C
A
T
T
T
G
20100
G
A
T
C
C
A
G
G
A
A
T
C
A
T
G
C
T
C
T
T
A
A
C
G
C
G
T
A
T
G
C
T
TTTAGAAC TCAAGACCCT
20150 |
var(20126):[A:0.02]
TGACTACCAG CTTAGAGTGG CAAGTCCCAG GCACCCTCCT TTTCCAGTAA
20200
C
G
TGGTTTT
T
TTTTTCACAC TGAAACCATT GTGTGACGGC AC
T
GAGGAAG
20250 |
var(20202):[A:0.01]
|
var(20210):[C:0.02]
|
var(20243):[:0.09]
GGTGGGGTAG AAGTATGGTG TGTTTTTAGA ACAAGTCAAA GGTAAAATGA
20300
ATACTATCAC ACTAAACACC ATGAGCCTTT TTTTTTTTTT TTAAGTTCTT
20350
GGGTGAATTT TCATAGTAGT TTGTGTTCAT TTCTATTAGC TTTTGAATGG
20400
TGAATGAATG ACTCCTTGGG CATTTGTGGT TTCATTTCTT GCTGGGTTAT
20450
TTTGACTCTT CTGCAAAATG ACTCTGTTTA TCACCTCATT TGGTTTCTAC
20500
TGTCTAAATT CTGGCAGGAT AGAAGCTACA CCCAAGATAC ACAGGAAGAT
20550
ATGATGCCAA CCTCAGAGGA GGGCATATGT GAAATTTTGT TTTCAGAAAC
20600
ATTTTTTTGT CTCTATTTTG GCAAGCACAT TTGCAGCTGC TGAACTGTGG
20650
TTTACCCTGA CAGTTCATCA TGAGACCAGC TCCTCAGAAT CTGGTTCTCC
20700
CTTTGAAAGG TGCT
G
TGAAG ACATACCATA TTTCATTCTC TCCTTGTCCT
20750 |
var(20715):[A:0.17]
TTCCAAGAAT AAGACAGTTG TGTCACACAA AAAAAGTGTC ACTTATTTCT
20800
TTAAACTAAA TGTGTTACCA TCTCATTAAA TTATATCCCA GGATATAATT
20850
TATCACGAGT TTATAACCAC CACTATTTCA TGAGTTTAAA TTTTCTCCAA
20900
TTTCACTTTC CATTTAAGCA TGCCTTCTAA TTCCTTGACT TTCCACTGCT
20950
CAAAATCAAT CTAC
A
G
C
T
G
G
G
C
T
C
G
G
T
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
21000 |
REPEAT
C
T
T
T
C
G
G
A
G
G
C
C
G
T
G
G
C
A
G
G
T
G
G
A
T
C
A
T
G
A
G
G
T
C
A
G
G
A
G
T
T
T
G
A
G
A
T
T
A
G
21050 |
var(21012):[T:0.01]
C
T
T
G
G
C
C
A
A
T
G
T
G
G
T
G
A
A
A
C
C
C
C
A
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
21100 |
var(21096):[A:0.07]
T
G
G
G
T
G
T
G
C
T
G
G
C
A
C
G
T
G
C
C
T
G
T
A
T
T
C
C
C
A
G
C
T
A
C
T
C
A
G
G
A
A
G
T
T
G
A
G
G
C
21150 |
var(21150):[T:0.10]
G
G
A
A
G
A
A
T
C
G
C
T
T
G
A
A
C
C
C
A
G
G
A
G
G
C
C
G
T
G
G
T
T
G
C
A
T
G
A
G
C
T
G
C
C
T
C
C
G
T
21200 |
var(21151):[A:0.04]
|
var(21162):[G:0.01]
G
C
C
A
C
T
G
C
A
C
T
C
C
G
G
A
C
T
G
G
G
C
A
A
C
A
G
A
G
T
G
A
G
A
C
T
C
C
A
T
C
T
C
A
A
A
A
A
T
A
21250
A
A
T
A
A
A
T
A
A
A
TAAATTAAAT TAAATTAAAT TAAAATAAAC ATAAATTTAA
21300
AAAATCAATC TACACTG
T
CC TTCAGACTCA TTAGATCTGG AGACAAAGAC
21350 |
var(21318):[C:0.01]
C
G
TATGCACC ACAAAAATTT
C
T
C
C
A
A
G
T
G
G
G
G
T
C
T
G
T
G
C
G
C
C
A
G
T
G
G
C
A
T
21400 |
var(21352):[T:0.11]
|
REPEAT
|
var(21382):[T:0.01]
A
A
G
C
A
T
C
A
C
T
A
A
A
G
A
G
C
T
T
G
T
T
A
G
G
G
G
T
G
C
A
G
A
A
T
C
T
C
A
G
G
C
T
C
C
A
C
T
C
A
21450
G
A
C
C
T
A
C
T
G
A
A
T
C
A
G
A
G
T
C
T
G
C
A
T
T
T
T
A
A
C
A
C
C
A
T
C
T
C
T
G
A
G
T
G
G
T
A
A
G
C
21500 |
var(21471):[T:0.04]
A
C
A
T
G
A
A
A
A
T
C
T
G
A
G
A
A
G
TG CTGCTACTAG GGTTTGCTTA CATTTGTTCA
21550
TCTTCAGAGG TTCCTAAAGC CTGGCCTCTT GTCTGAGATT TCCAGCTGAA
21600
AGCATTTCCT TGCTCCTCTT CTCATCTCTA ATGAATATTT ACCTTTACTA
21650
CTAACACTCC AAGTTTTGCA ATTTTTAAAC TCTTATTATC TTTTGTTTTT
21700
CTTTCAG
T
A
T
G
A
A
T
G
A
C
C
C
A
T
A
T
T
A
A
A
T
C
G
C
C
C
T
T
G
G
T
G
A
A
A
G
A
A
A
A
T
T
C
21750 | Exon 9 |
var(21712):[G:0.02]
|
UTR
M N D P Y 372
T
T
G
G
A
A
T
A
C
T
A
A
A
A
A
T
C
A
T
G
A
G
A
T
C
C
T
T
T
A
A
A
T
C
C
T
T
C
C
A
T
G
A
A
A
C
G
T
T
T
21800
T
G
T
G
T
G
G
T
G
G
C
A
C
C
T
C
C
T
A
C
G
T
C
A
A
A
C
A
T
G
A
A
G
T
G
T
G
T
T
T
C
C
T
T
C
A
G
T
G
C
21850
A
T
C
T
G
G
G
A
A
G
A
T
T
T
C
T
A
C
C
T
G
A
C
C
A
A
C
A
G
T
T
C
C
T
T
C
A
G
C
T
T
C
C
A
T
T
T
C
G
C
21900 |
var(21870):[C:0.29]
C
C
C
T
C
A
T
T
T
A
T
C
C
C
T
C
A
A
C
C
C
C
C
A
G
C
C
C
A
C
A
G
G
T
G
T
T
T
A
T
A
C
A
G
C
T
C
A
G
C
21950
T
T
T
T
T
G
T
C
T
T
T
T
C
T
G
A
G
G
A
G
A
A
A
C
A
A
A
T
A
A
G
A
C
C
A
T
A
A
A
G
G
G
A
A
A
G
G
A
T
T
22000 |
var(21986):[C:0.06]
C
A
T
G
T
G
G
A
A
T
A
T
A
A
A
G
A
T
G
G
C
T
G
A
C
T
T
T
G
C
T
C
T
T
T
C
T
T
G
A
C
T
C
T
T
G
T
T
T
T
22050
C
A
G
T
T
T
C
A
A
T
T
C
A
G
T
G
C
T
G
T
A
C
T
T
G
A
T
G
A
C
A
G
A
C
A
C
T
T
C
T
A
A
A
T
G
A
A
G
T
G
22100
C
A
A
A
T
T
T
G
A
T
A
C
A
T
A
T
G
T
G
A
A
T
A
T
G
G
A
C
T
C
A
G
T
T
T
T
C
T
T
G
C
A
G
A
T
C
A
A
A
T
22150
T
T
C
A
C
G
T
C
G
T
C
T
T
C
T
G
T
A
T
A
C
T
G
T
G
G
A
G
G
T
A
C
A
C
T
C
T
T
A
T
A
G
A
A
A
G
T
T
C
A
22200
A
A
A
A
G
T
C
T
A
C
G
C
T
C
T
C
C
T
T
T
C
T
T
T
C
T
A
A
C
T
C
C
A
G
T
G
A
A
G
T
A
A
T
G
G
G
G
T
C
C
22250
T
G
C
T
C
A
A
G
T
T
G
A
A
A
G
A
G
T
C
C
T
A
T
T
T
G
C
A
C
T
G
T
A
G
C
C
T
C
G
C
C
G
T
C
T
G
T
G
A
A
22300 |
var(22292):[A:0.01]
T
T
G
G
A
C
C
A
T
C
C
T
A
T
T
T
A
A
C
T
G
G
C
T
T
C
A
G
C
C
T
C
C
C
C
A
C
C
T
T
C
T
T
C
A
G
C
C
A
C
22350
C
T
C
T
C
T
T
T
T
T
C
A
G
T
T
A
G
T
T
G
G
C
T
G
A
C
T
T
C
C
A
C
A
C
C
T
A
G
C
A
T
C
T
C
A
T
G
A
G
T
22400 |
var(22366):[:0.99]
G
C
C
A
A
G
C
A
A
A
A
G
G
A
G
A
G
A
A
G
A
G
A
G
A
A
A
T
A
G
C
C
T
G
C
G
C
T
G
T
T
T
T
T
T
A
G
T
T
T
22450
G
G
G
G
G
T
T
T
T
G
C
T
G
T
T
T
C
C
T
T
T
T
A
T
G
A
G
A
C
C
C
A
T
T
C
C
T
A
T
T
T
C
T
T
A
T
A
G
T
C
22500
A
A
T
G
T
T
T
C
T
T
T
T
A
T
C
A
C
G
A
T
A
T
T
A
T
T
A
G
T
A
A
G
A
A
A
A
C
A
T
C
A
C
T
G
A
A
A
T
G
C
22550
T
A
G
C
T
G
C
A
A
G
T
G
A
C
A
T
C
T
C
T
T
T
G
A
T
G
T
C
A
T
A
T
G
G
A
A
G
A
G
T
T
A
A
A
A
C
A
G
G
T
22600
G
G
A
G
A
A
A
T
T
C
C
T
T
G
A
T
T
C
A
C
A
A
T
G
A
A
A
T
G
C
T
C
T
C
C
T
T
T
C
C
C
C
T
G
C
C
C
C
C
A
22650
G
A
C
C
T
T
T
T
A
T
C
C
A
C
T
T
A
C
C
T
A
G
A
T
T
C
T
A
C
A
T
A
T
T
C
T
T
T
A
A
A
T
T
T
C
A
T
C
T
C
22700 |
var(22653):[A:0.45]
A
G
G
C
C
T
C
C
C
T
C
A
A
C
C
C
C
A
C
C
A
C
T
T
C
T
T
T
T
A
T
A
A
C
T
A
G
T
C
C
T
T
T
A
C
T
A
A
T
C
22750
C
A
A
C
C
C
A
T
G
A
T
G
A
G
C
T
C
C
T
C
T
T
C
C
T
G
G
C
T
T
C
T
T
A
C
T
G
A
A
A
G
G
T
T
A
C
C
C
T
G
22800
T
A
A
C
A
T
G
C
A
A
T
T
T
T
G
C
A
T
T
T
G
A
A
T
A
A
A
G
C
C
T
G
C
T
T
T
T
T
A
A
G
T
G
T
T
A
A
CTA
22850
GTTTGCCTAG TTTGTTATTT TGAAA
A
TTAT CATATGTTTT GTTTTCTCCC
22900 |
var(22876):[:0.55]
CAGTGAGATT ACATGCTCCT TCAGGGCAGA GTTTGTGTCA GATCCCTGGA
22950
GTATCTAGTG CATTACTTGA CACTCAATAA ATGAATGTTC AAATAAATCA
23000
GAAAGAGCAT ACAGTGCACT GCTGATATAA GTTTCAGCAA ACCCTCTTTC
23050
TCTATGGCAT CTGATGACCT GGGCAGATAT CACCTAATGT CAACAGCTGA
23100
ATTCTTATGA GAGAATAGAG CCCTTTCAGA AGCTAGCTGG AAATACCTCC
23150
TTGTCCCATG GCCAATATAG ATTTCATACA AATTTGCACA CATTATGAGA
23200
ATAATTTTTT GGTAATGATT ACACTTTTC
T
TTCTCAAAGA CATCTCAGAT
23250 |
var(23230):[C:0.01]
TCTGTATTAT AGCAAAAGCT GTTGCAAAAG ATTCTCCCTA TA
G
T
A
C
A
C
T
G
23300 |
REPEAT
T
A
A
A
T
C
T
T
G
G
A
T
G
T
G
C
A
A
A
T
C
A
C
A
T
T
C
A
T
G
T
G
G
T
T
T
A
G
G
G
T
A
C
A
T
C
C
C
C
T
23350
G
G
A
G
G
T
G
T
A
C
A
G
T
G
C
A
C
A
C
G
T
G
C
A
C
A
G
A
C
A
C
A
C
A
T
G
G
C
A
A
C
C
C
T
G
ACAAA
23400 |
var(23370):[A:0.01]
AAT
G
TTTATT CCACTAACAC ATCAGGGCCA AGGAACCCAA ATGGACACTA
23450 |
var(23404):[A:0.02]
CTCCTTGTAA TTATGATGTA TATAGATTTA AAAATAAAGT TCTATATTCA
23500
AGCTCTAGGA TTCCTAT
A
TG ATCTTAGGAA TTACATAATA GTAATCCCAT
23550 |
var(23518):[G:0.01]
AAATCAAGAT TCATAATATA AAATTCTCCA GAAACCTTGG T
C
T
T
A
A
C
C
T
C
23600 |
REPEAT
C
C
T
G
A
G
A
C
T
T
A
C
T
T
C
C
T
A
T
G
C
C
C
A
T
A
A
A
A
C
A
A
G
A
A
T
G
A
A
A
T
T
T
G
C
C
T
T
G
C
23650 |
var(23613):[G:0.01]
T
T
A
C
C
C
C
A
C
A
G
G
G
T
T
A
T
T
G
T
G
A
TGGTACCT TAAGTATGAA ACTGCTTTGT
23700
GAACTGAATC TGAAACACAG ACTTTTT
T
TT TTTTTTTCCT CACTCAAATC
23750 |
var(23728):[C:0.01]
TTACCTTTCA TGCTTTCATG GTGTAAGATT CTGGTTCTTA TCCTAAGGCT
23800
GGAACAGATG GAGCTCTGAG TCCTTATCCT GAGATTAGAA GCCAGGAAGT
23850
CTTTCACTTG TGTTCCAATA GGAACTCAGC CCTCAGATTT TCACTGCACA
23900
GGGTCAGCTC TGCCCCCTGC ACTTCTGCTT GCGG
G
A
G
G
A
G
G
A
A
G
G
G
C
C
T
G
23950 |
REPEAT
G
G
A
C
A
G
G
G
A
G
T
C
A
G
A
G
G
C
A
T
C
A
G
T
G
G
G
A
A
C
C
C
T
G
C
C
T
C
T
G
T
C
T
C
C
G
T
G
A
T
24000
G
T
G
A
C
C
C
T
G
G
C
C
A
G
T
T
G
T
T
A
C
T
C
T
C
T
C
T
G
A
A
C
T
T
C
A
G
A
T
T
T
A
T
T
T
A
T
G
A
A
24050
A
T
G
G
G
G
A
T
CC CATTATCTT
C
GTCACATGAT TGTGCTCCAC ATTTTATGAA
24100 |
var(24070):[T:0.18]
ATAACTCCTC CTATGCTTTA CTCAGAGTAC CAAGTTCATG AAATTG
T
CAG
24150 |
var(24147):[A:0.31]
AGTCCCAGGA ACACAGAATT ATTCATTCCT TCTGATTTGT TCACCCAAGA
24200
TCAATGTGCC TGGGCTGTAT TATTGTAGTT TCCTACAGAA ATAGTTCACC
24250
AAATTAAAAT CTAATTTTTA
A
A
A
A
A
T
T
A
G
C
T
G
G
G
C
A
T
A
G
T
A
G
C
A
C
A
T
A
C
C
24300 |
REPEAT
T
G
T
A
G
T
C
C
T
A
G
C
T
A
G
T
C
G
G
G
A
A
G
C
T
G
A
G
G
C
A
G
A
A
G
G
A
T
T
G
C
T
T
G
A
G
C
T
C
T
24350 |
var(24330):[T:0.01]
AATGATTTAA TGAGAATAGA AAGAAGCAAG AAAGAGGCTT CTTGTCCAAA
24400
TTGCACTGTG GAAAATGAAT AAATGTATTC TTTAGACATC TATATTTTTC
24450
CCCTTAAACT TCCTCC
T
ATC TGCCAGTTGA CTTCTCTGTA CAGTTCTTTC
24500 |
var(24467):[C:0.37]
TCCAAAGTTC TTT
G
CATTGC CCTCTTTCAA CTTCAGCAAT TTGATTTTTC
24550 |
var(24514):[A:0.01]
CCTTCTGTTC AAATGTCCTA TTATGGACAT TTTATGGAAA GAAAATCTGC
24600
CATCACCATA ACAGCCTACC CACCATTTAT GACAAAGGAC AGGGAAATTA
24650
TTAGGAGAAA TAATGAGATC TTTACTTCCC TTTGGCCTTT GTGGCCTTGT
24700
CT
G
ATCCAGT GGGCCCCAAC ATTTTATGAG ATATATACAG CCTTCCCTGC
24750 |
var(24703):[A:0.01]
GAGACTCTGA AAGGGTTTTA GTTAAAAGTA ATATAATAAT
T
A
T
C
A
C
G
C
G
T
24800 |
REPEAT
G
T
C
G
G
T
G
T
G
A
A
G
A
G
A
C
C
A
C
C
A
A