TRAF2 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
GAGCTGGCTG CTGCAGACTC AGGACAGCTT TGAGCCTCCC AGGTGCAGCC
50
AGGAGGAGAC GCCTTCTTAC GTTTGAGAGC TCAGTTAGTT CCTGGGCTTG
100
AGCAACCTCA CTGAGCCTGC AGGTGCGGAC TTGGGAC
A
TT TCCATGGCTG
150 |
var(138):[G:0.21]
CTTGCAGCAA ACTCAGGGGT GATGACGTTG ATGGAATCCG ATGGCTTCCT
200
GAGTTCCATC TCAAGGCCTT GCTGTCCCAG GAATGTGGGT TTGGGGC
G
GA
250 |
var(248):[A:0.02]
GGGGAATTCC AACTGCAAAC CAAGTAACAT ATATGAAATG TGGCATTGGC
300
GCCT
G
GGGAC AGCGTGGCCT GTGTAAATTA TGCAACTTCA AAGCCTGCCC
350 |
var(305):[A:0.01]
TGTTTTGCAG TGTATTCCAT CCTTGAGGAG TCCCGTGGTC TCAGGGTCTG
400
AATGCTTGGA GGAGACTTAC CTCCGTGAAC GTTTCCTTCT CTGCAAAGCG
450
GGGTGAAAGG TCTCCATTTC ACCAAAGGCT GGATGGAGAG GGGGTGGTGT
500
GTCCAGTGCT AGCCCGTGCA CCGCCAGAGA GAACCTGCTG CAGCTCCCGT
550
TCTCCTGGGC AGATGACAGT GCCGCCTCCC CCATGCAGCC CACAGGACTC
600
CTAGGGCAGC CCCTGTTTTG GCCGCCAAGG CCACTGTTTT CATTTGAGTG
650
TCTGGAGGCC ATAGGTTGTG TTT
T
C
A
C
T
T
G
A
G
G
T
C
G
G
G
A
G
T
T
C
A
A
G
A
C
C
A
700 |
REPEAT
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
T
C
G
T
C
T
C
T
A
T
C
A
A
A
A
A
T
A
C
A
A
A
C
A
T
T
A
G
750
C
C
G
G
G
C
G
T
G
A
T
G
G
C
G
G
G
C
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
C
G
G
G
A
G
G
C
T
G
A
G
G
800
C
A
G
G
A
G
A
A
T
C
G
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
T
C
G
A
G
A
T
C
850
G
C
G
C
C
A
C
T
G
A
A
C
T
C
C
A
G
C
C
T
G
G
G
C
G
A
C
A
G
A
G
T
G
A
G
C
C
T
C
C
G
T
C
T
C
A
A
A
A
A
900
A
A
A
A
A
A
T
A
A
A
T
A
A
A
G
T
G
C
A
C
A
A
C
C
C
A
G
T
A
G
A
T
T
A
G
C
A
C
A
C
C
G
G
C
C
A
T
G
T
C
950 |
REPEAT
G
G
G
C
G
G
C
C
G
T
C
A
C
C
A
C
T
G
T
C
C
G
G
T
T
G
C
A
G
A
G
C
A
T
T
A
C
C
T
C
A
C
C
C
C
A
A
A
A
G
1000 |
var(987):[A:0.02]
G
A
G
A
C
C
C
C
A
T
A
G
C
C
T
T
A
A
TA CCTTACTTAA GTGTGCAGTA TTCTTTTAGT
1050
CCTGTTTCTC ATAAATGTTA CCCAAATTGA GGCGCCGCTC TGCGCCCGGC
1100
ACCGGGGGAG GCGGAGGGAC CCGCAGGTGT CGGGTAGGTG CGGCCGCCCC
1150
GCCAGGGCCC CGCGTCCCGC GCGC
A
ACGCG CGCCTCGTGG GAACCGGTGT
1200 |
var(1175):[C:0.02]
CGCCCGGCTT GGGCTCCCGG CTCACCTCTC GGGTGTGCGG CAGGGGTCTC
1250
CGCCCCGGGG CCACGGGAGG GGAAGCAAGG GCCTCGCTGT CTCGCCGCAC
1300
CTGGGGAAGG GACCCAATTA GCGCGGACCC CACAGCGCAG CACCTCACCA
1350
GCTCCCCGCA CCAACGCCCC GGCGCGCTCT TTGAGGAAAA AGCAGAGGGC
1400
GACTTAGGTA CCCACGCCGT CTCAGCGCCG ACCAATCGGC GCACGCTGCG
1450
GCTCCTGCGG GCTCGCTGGT TGGCTCCGGC GTCAGTCCGT CAGGCGCGCT
1500
CGGAGCGGGG CGTATCTGGC CAATGGCTCT CG
C
TACAGCT TCCTGAGGGC
1550 |
var(1533):[A:0.06]
TGGCTGGTTG GCTCCCATGT CCGTCCGTCA GGCGCACGCG GCGGAGCGGC
1600
GGCGGCGGCG G
C
G
G
CGTTGG GGGCGGTAGC TGGGCGGGCC
C
T
T
A
G
T
T
C
C
G
1650 |
var(1612):[A:0.01]
|
var(1614):[C:0.01]
| Exon 1 |
UTR
G
G
C
G
C
G
C
T
G
C
G
A
C
C
G
T
T
G
G
G TGAGGCGAGC GCGGGGTCGG GTGCGGGGTC
1700
GGGCGCGGGC GCGGGGTCGG GTGCGGGGTC GGGCGCGGGG TCGGGCGCAG
1750
GCGCGGGCAC CTCTCAGGGA GACTCCGGGC CGGAGCGGGA GCGGGGGCGG
1800
GAGAGGCCGC GGGGCGGGGG CGGGGCCAGC CCGAGGGGAT TTCTCTGAGC
1850
C
GCTGGGCCG GAAACCAAGT CCGAGCGTGG CTGGCGCGGG AAAGTTCGGG
1900 |
var(1851):[T:0.02]
AACGCGCGCG GCCGTGCTCG GAGCAGCGC
C
AGGGCACGGT CCGGGGTTTT
1950 |
var(1930):[T:0.01]
GC
G
CGGGGTC GCGGCTCCCA GTACCGCCTG AGGCCCGTGG GCGGCCCACC
2000 |
var(1953):[T:0.01]
CGGCCCTGCC CCGTCCCGGG TCCGTCGCTC CCCCGCACCC TGTCGCCCCT
2050
CCACGCTCAG CTGTGGGCCC CTCGTGTCCC CGAAGCCCCG CACCCTCAGC
2100
CGGCTGCGTG CTC
G
GGAGGG TCAGGGGCGC CTCCGACCCC TGAGTTTGCC
2150 |
var(2114):[T:0.01]
AGCGCCCCCC AGCCAGGGGT CGGGGAAGAC CAGTGAGGCT GGGGGCGGAG
2200
CCGACTCTGC TGCCTTCCTG CCCAGTGGCT GGGGAGACCC AGGCTGAGCC
2250
TGGGTGAAAA GTCCCTCTGG CTGCTGGGAG GGTCGGGGGC AGCAAGGAGC
2300
CAGTGCGGGG ATGGGCTGCG GTGGACCGGG CCGGGATCGG GGCCGGGGCC
2350
TGGTCCTGGC AGTAGCAGGG GATGTTTGTG GAAGGTAGAG CC
G
A
G
A
A
A
A
A
2400 |
REPEAT
G
A
G
G
A
G
T
T
G
C
A
A
T
G
T
C
T
G
C
A
A
G
A
A
T
C
T
G
G
C
G
T
G
A
G
C
A
G
C
T
G
A
A
G
G
C
T
G
G
T
2450
G
C
T
T
C
C
T
A
G
G
C
C
A
A
G
A
T
G
A
A
G
G
A
G
TCACAG CGCCCATGGC CTCTCGGGAG
2500
GCGGCCAGAT GGGCAGCCTG GGGTCAGGGG AACGGTCAGG GCCAGAGCTG
2550
GGTATTTTGG AGTTGTCATT TTGAGGCCCC GAGGGCTGAG GGTCAGTGCA
2600
GAAGAGCACC AAGCCTCCAC TCGGTGTAGG GCCGAC
A
G
G
G
G
G
T
G
G
G
G
T
G
T
2650 |
REPEAT
C
T
G
G
C
A
G
C
C
G
G
T
G
A
A
G
A
C
G
G
G
G
C
T
C
G
G
A
G
G
A
G
G
A
G
G
G
A
G
T
C
T
G
G
T
C
T
G
G
G
2700
T
C
A
A
G
T
C
A
A
G
G
G
A
A
A
C
T
A
G
G
A
C
T
G
A
G
A
A
C
G
G
A
C
C
C
T
G
C
T
C
T
G
T
G
G
C
C
A
C
A
2750
T
G
ATTTTGAA GGGACGGAAT TACTGCCCTG TAACTCAGTC TCTCTCCCTG
2800
TTAATAGCCC TAGTTTTTAA TAAGAGGAAC TGAATGTATT AATGGGTGGA
2850
CACTTGTAAG GTTCAAGATC TCCTCTTCTA CCACGCTTGC TTCTGATACT
2900
TTTGTATAAA CAGTTGTTAA GAGTTTAGGT TGTTATCAAG CTTCTATTTG
2950
GTATTATTTT GAGCCTGAAA AAGATGGGGT TACATATAAA ATTGTAA
T
T
T
3000 |
REPEAT
T
A
T
T
T
A
T
T
T
A
T
T
T
T
T
T
G
A
G
A
T
A
G
T
T
T
T
G
G
T
C
T
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
3050
G
C
A
G
T
G
G
C
T
C
G
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
G
C
C
T
C
C
G
C
C
T
C
C
T
G
G
G
T
T
C
A
A
G
C
3100
G
A
T
T
T
T
T
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
G
A
G
C
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
C
A
C
C
A
3150
C
C
A
C
G
C
C
C
G
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
G
A
T
A
G
G
G
T
T
T
C
A
T
C
A
T
3200
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
T
T
C
A
A
A
C
T
C
T
T
G
A
C
C
T
T
A
G
G
T
G
A
T
C
C
A
C
C
C
G
C
C
T
C
3250
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
A
G
G
A
T
T
A
C
A
G
G
C
A
T
G
A
G
C
C
A
C
C
G
C
G
C
C
C
G
G
C
C
AT
3300
GAAATTACAG TTTTAAAGTT AACTTCTAGT ATTTGGAGGG CCTCATATTC
3350
ATGGCTGCAT GCAGATCAGT GTTCCTGAAT ATTACTCAGA TGAGCTTTTA
3400
TAGAAGTGGG TTAGAATCAG GTGCCATT
G
A
C
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
3450 |
REPEAT
C
C
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
G
G
G
G
T
G
A
A
C
C
C
G
G
G
A
G
G
C
G
G
A
G
C
T
T
G
C
A
3500
G
T
G
A
G
C
C
G
A
G
A
T
C
G
C
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
G
A
G
C
G
A
G
A
C
3550
T
C
C
A
T
C
T
C
A
A
A
A
A
G
A
A
TCGG GTGCCACCCA GTGAACTCTT ACGTGGAGTC
3600
CAGTATTGTA TGAAGCAGTT GTGTGCTGTT GGTGGAGACA TGAATTGAGG
3650
TTTGAATCTC CAGCATTTGG GGCATCTTGG AGTCTGCTTG TGAGAAG
G
GC
3700 |
var(3698):[A:0.01]
GAGGCCTGGG TTGAACCCAA GCGTTTGCGG CGACTAGGTG ACCCCTGCAG
3750
CGGCCAGGT
T
GCACCCATAT CTGATTTGAT GTCATGGTTT GGGCAGTGTT
3800 |
var(3760):[G:0.01]
TGACTTGTGT AACAATACAG CTTGTCCTTT TGAGAGTCAC CGATGCCACC
3850
AAACCATGTT CACACACCAG AGTCAGGATG CCAGGTCT
C
A GCTGCCTGAT
3900 |
var(3889):[G:0.01]
GACTCCAGCT TAGTGAAGGC CTCTGATTTC TTGTGGGGGT GTCCCATTGT
3950
GAAGGGAACA CACAGCT
T
GG CCCTACCAGC AACAAGGGTG CCAGATGCCC
4000 |
var(3968):[C:0.43]
CCACTCTCCT GTGGAGG
G
G
A
G
T
C
T
C
G
C
T
C
T
G
T
C
A
C
C
C
G
G
C
T
G
G
A
G
T
G
C
A
G
4050 |
REPEAT
T
G
G
C
A
C
G
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
T
G
C
C
T
C
C
T
G
G
G
T
T
C
A
C
G
C
T
A
T
T
4100
C
T
T
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
G
A
G
T
A
G
C
T
G
G
A
C
T
A
C
A
G
G
C
A
C
C
C
G
C
C
A
C
C
A
C
G
4150
C
C
C
A
G
C
T
A
A
T
T
T
T
T
T
G
T
A
T
T
T
T
T
A
A
T
G
G
A
G
A
C
G
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
A
G
4200 |
var(4195):[C:0.01]
C
C
A
G
G
G
T
G
G
T
C
T
C
G
A
T
C
T
G
A
T
C
T
C
G
T
G
A
T
C
C
G
C
C
C
A
C
C
T
C
G
G
C
C
T
C
C
C
A
G
4250
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
T
G
A
G
C
C
A
C
C
A
C
TGAGGGGCTT TTTTACGTTA
4300
AAACTTGTTT GTTTGTTTTT CTTTTTTTGT TTGTGTGG
T
T
T
T
T
T
C
T
G
T
T
T
4350 |
REPEAT
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
G
G
A
G
T
C
T
C
G
C
T
C
T
G
T
C
C
C
C
C
G
G
T
G
T
G
A
G
CCAC
4400
CACGCCTGGC C
T
T
T
T
T
T
T
T
T
C
T
T
T
T
T
T
T
G
A
G
A
C
A
G
A
G
T
T
T
C
G
C
T
C
T
T
G
T
T
4450 |
REPEAT
|
var(4417):[C:0.03]
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
A
T
G
G
T
G
C
G
A
T
C
T
C
G
G
C
T
C
G
C
T
G
C
A
A
C
C
T
C
T
G
C
C
4500
T
C
C
C
A
G
G
T
T
C
A
A
G
T
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
T
C
C
T
C
C
A
G
A
G
T
A
G
G
T
G
G
G
A
T
T
4550 |
var(4534):[G:0.04]
A
C
A
G
G
C
A
C
C
C
A
C
C
A
T
A
A
T
G
C
C
C
G
G
C
T
A
A
T
T
T
T
T
G
T
G
T
T
T
T
T
A
A
T
A
G
A
G
A
C
4600
A
G
G
G
T
T
T
C
T
C
C
A
C
T
T
T
G
G
T
G
A
G
G
C
T
G
G
T
C
T
C
G
A
A
C
T
C
C
T
G
A
C
C
T
C
A
G
G
T
G
4650
A
T
C
C
A
C
C
T
G
C
C
T
T
G
G
C
A
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
A
T
G
A
G
C
C
A
4700
C
C
T
T
G
C
C
C
G
G
C
C
TTAAAACC TGTTTTTGAC ATTTCTTTGC CATTTTAACT
4750
TT
T
T
T
G
T
T
A
T
T
T
T
A
T
T
T
T
T
A
T
A
C
C
T
G
A
G
G
T
C
T
T
G
T
T
A
T
G
T
T
T
C
C
C
A
G
G
C
T
4800 |
REPEAT
G
G
T
C
T
C
G
A
A
C
T
C
C
T
G
G
C
C
T
G
A
A
G
T
G
A
T
C
C
T
C
C
A
A
C
C
T
C
A
G
C
C
T
C
C
C
A
A
G
T
4850
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
C
A
A
G
C
C
A
C
T
G
T
G
T
C
AGTTGGTCA CCGCATGTGT
4900
GAGAGTTCCC CCCACACTTA TTCAGTCGGT CACCACTTGT GTGAGAGTCG
4950
CCCCTGCATG CTCATTCAGT CGGTCACTAC ATTTGTGACA GTCATCCCCG
5000
CATGCTCATT CAGTCGGTCA CCGCATGTGT GATAATCACC CCCGCATGCT
5050
TGTTCAGCTC GTCACCGCGT GTGTGAGAGT CCCCACCGCA CG
C
TCGTTCA
5100 |
var(5093):[T:0.01]
GCCGGTCACC GCGTGTGTGA G
A
G
TCCCCAC CGCACG
C
TCG TTCAGCCGGT
5150 |
var(5122):[:0.81]
|
var(5137):[T:0.01]
CACCGCGTGT GTGAGTCCCC CC
C
GCACGCT CGTTCAGCCG GTCACCGCGT
5200 |
var(5173):[T:0.03]
GTGTGAGTCC CCACCGCACG CT
C
GTTCAGC CGGTCACCGC GTGTGAGTCC
5250 |
var(5223):[T:0.17]
CCACTGCACG CT
C
GTTCAGC CGGTCACCGT GTGTGTGAGA GTCCCCACCG
5300 |
var(5263):[T:0.01]
CACGCTCGTT CAGTCGGTCA CCGCATGTGT GAGAGTCCCC ACCACACGCT
5350
CGTTCAGC
C
G GTCACCACGG GGGTGGCACT TTTGTTTTTA GCTGACTTAG
5400 |
var(5359):[T:0.17]
CTGATAGAAT TGGGAGTTTT AGAGTAAAAC TGATCTGGAA GCCTGAAAAA
5450
ACCAGCAGCA CATTGTTCGT TTCCAGGTTG AATCGCTCCT AGCTGACCCC
5500
TCAC
G
TCTCT TATGATACGT ACAGAAAGCA AGAGCA
G
CCC ATGCCGTCCG
5550 |
var(5505):[A:0.01]
|
var(5537):[A:0.01]
GCCGCGCACC AGGTCTCAGT CTGTGTGTCT GGTTCAGGTG ACCATGGTGT
5600
TCAGTTCAGT TCCTCCTGCC TCGTGTGTAG GCCACTGAGA GCTCCCTAGT
5650
CTAAGCCGGA GGAGGTTCTG GTAAGTGCTA GGCACAGTGG AAGTCGGATT
5700
CCAACATGTG CGCAAATTGG GGCACTGTCA GAAGTGTGCT AAAATCTTGG
5750
TGTAGCACTT TTGAGCCTTC GTGGTGGTTT TCATTAGTTC TTAAAATGTA
5800
TTTATGAATG AGATTCAAAT AAAATGTTTA AGGAATCTCT AAGCACAAAG
5850
AACCCCAGAG TGTAGTGTGG GCATCAGTGG GACCTCAGGG TCCCCTGAC
C
5900 |
var(5900):[G:0.02]
GGGCTGCCTG CCGTGTCCTG GCTGTCTGGG GTTGTGTTTT CATTTGGAAA
5950
CAGGAATAAT GATCCCCGAC CTTCCAGCCG TGTCAGGATG TCACGATGGC
6000
CACGTGAGGC CGTGTCTGTG AGAAGCGTCT GCCGGTGGTG GAGGACGTGC
6050
ACTTTGTTGT GAACCT
C
G
G
C
T
C
A
C
T
G
C
A
G
C
C
T
C
C
T
C
C
T
C
C
C
C
A
G
G
C
T
C
A
G
6100 |
REPEAT
G
T
G
A
T
C
C
T
C
C
C
A
C
C
T
C
A
G
C
C
T
C
C
T
G
A
G
T
G
G
C
T
G
G
G
A
C
C
A
C
A
G
A
T
G
C
A
A
G
A
6150 |
var(6147):[G:0.19]
|
REPEAT
T
C
C
T
C
C
C
A
C
C
T
C
G
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
G
A
C
C
A
C
A
G
A
T
G
C
A
T
G
C
C
A
T
C
6200
A
C
A
C
T
T
G
G
C
C
A
T
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
A
T
T
T
G
T
T
T
T
T
T
T
A
T
G
T
G
T
G
T
T
T
T
6250 |
REPEAT
G
T
T
T
T
T
G
A
G
A
C
A
G
A
T
G
G
T
T
G
C
T
C
T
T
G
C
T
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
T
G
6300
A
T
C
T
C
A
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
G
C
C
T
C
T
C
A
G
G
T
T
T
G
A
G
C
G
A
T
T
C
T
T
C
T
G
C
6350
C
T
C
A
G
C
C
T
C
T
G
G
A
G
T
A
G
C
T
G
G
G
C
T
T
A
C
A
G
G
C
T
T
G
C
A
C
C
A
C
C
A
T
G
C
C
T
G
G
C
6400
T
A
A
T
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
G
G
A
G
A
C
G
G
G
G
T
C
T
C
A
C
C
A
T
G
T
T
G
G
C
C
A
G
C
C
6450
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
G
A
C
C
T
C
A
T
G
A
T
C
C
G
C
C
C
G
C
C
T
C
G
G
C
C
T
C
C
C
A
A
A
G
T
6500
G
C
T
G
G
G
A
T
T
A
C
A
A
G
T
G
T
G
A
G
C
C
A
C
C
G
C
G
C
C
C
A
G
C
C
A
T
T
T
T
T
T
T
G
T
G
T
T
T
T
6550 |
var(6525):[T:0.01]
|
REPEAT
T
G
G
T
A
G
A
G
A
C
A
G
G
G
T
T
T
C
A
T
C
A
T
G
T
T
C
C
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
G
6600 |
var(6577):[T:0.02]
A
G
C
T
C
A
A
G
C
A
A
T
C
T
G
C
C
T
A
C
C
T
C
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
T
A
G
G
6650
T
G
T
G
A
G
C
C
A
C
C
A
T
G
C
C
T
G
G
C
C
CATTTTTGT GGTTCTTTTA TGTCTGACAG
6700
GCATGCCTAG GGCAGGGAGG GCACACCTCT GTCTCCACCT TCAAGAGCGC
6750
ATTTAGGAGG AATGTCGATA TGAAAAGAAT CAAGCTTTGT CTGAAAGATG
6800
CACCAGGACA CTCTTCAGTG ACATTGGGAA AAAAGAACGC TCACCCTGAA
6850
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
G
A
A
G
T
T
T
C
G
C
T
C
T
T
T
G
T
G
C
C
C
A
A
G
C
T
G
G
A
6900 |
REPEAT
G
A
G
C
A
G
T
G
G
T
G
C
G
A
T
C
T
T
G
A
C
T
C
T
C
T
G
C
A
A
C
C
T
C
T
G
C
C
T
C
C
C
A
G
G
T
T
C
A
A
6950
G
C
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
G
T
A
G
C
T
G
G
A
A
T
T
A
C
A
G
G
C
G
T
G
A
G
C
7000
C
A
C
T
G
C
A
C
T
C
G
G
C
T
A
A
T
T
T
T
G
T
G
T
T
T
T
T
A
G
T
A
G
A
A
A
T
G
G
G
T
T
T
C
T
C
C
A
T
G
7050
T
T
G
G
T
C
A
A
G
C
T
G
G
T
C
T
C
G
A
T
C
A
C
C
A
C
C
T
C
A
G
G
T
G
A
T
C
C
A
C
C
C
G
C
C
T
C
A
G
C
7100
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
A
G
C
C
A
C
C
G
T
G
C
C
C
G
G
C
C
CATTC
7150 |
var(7118):[C:0.03]
|
var(7141):[T:0.02]
TGAATCTGTC TACCCTAGCA AAACGATCCT TTATTTTACT TTCTTGCCCC
7200
ATTCGTACAC TGGCATGACT GCACTCATAG GGTTCTTCAC ATTTTATATC
7250
CTATTTAACA TCTTATAATA AGTATAAAAT AGGATTTTGT CCTAAAGAAT
7300
GTGGTTTAA
G
G
C
C
A
G
G
C
G
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
C
T
T
T
G
7350 |
REPEAT
G
G
A
G
A
C
C
G
A
G
G
C
G
G
G
C
A
G
A
T
C
A
C
G
A
G
G
T
C
A
G
G
A
G
A
T
C
G
A
G
A
C
C
A
T
C
C
T
G
G
7400
C
T
A
A
C
A
C
G
G
T
G
A
A
A
C
C
C
C
G
T
C
T
C
T
A
C
T
A
A
A
A
A
A
T
A
C
A
A
A
A
A
A
T
T
A
G
C
T
G
G
7450 |
var(7428):[G:0.02]
G
C
A
T
G
G
T
G
A
C
T
G
G
T
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
7500
A
G
A
A
T
G
G
C
G
T
G
A
A
C
C
T
G
G
G
C
G
G
T
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
A
A
G
A
T
C
G
C
G
C
7550 |
var(7508):[T:0.05]
C
A
C
T
G
C
A
C
T
C
C
C
G
C
C
T
G
G
G
C
G
A
C
A
G
A
G
C
G
A
G
A
C
T
C
C
G
T
C
T
C
A
A
A
A
A
A
A
T
A
7600
A
A
T
A
A
A
T
A
A
A
A
A
G
A
A
TGTGG CTTAAAAACC AATGATACTT AAAAATAGAA
7650
AATTTCTTTG TCCAAAGTGG ATTAGAAGCC ACTTTGTTCT AAAACCATTA
7700
AACCTTTTTA AACTGTTAGT GGCTC
A
G
C
C
A
G
G
C
A
C
A
G
T
G
G
C
T
C
A
T
G
C
C
T
A
7750 |
REPEAT
T
A
A
T
C
T
C
A
G
C
A
C
T
T
T
G
G
G
A
G
A
T
T
G
A
G
G
T
G
G
G
C
A
G
A
T
T
A
T
C
T
G
A
G
G
T
C
A
G
G
7800
A
G
T
T
C
G
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
7850
T
A
C
A
A
A
A
A
T
T
A
G
C
C
A
G
G
C
G
T
G
G
T
G
A
C
A
G
G
C
G
T
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
7900 |
var(7880):[T:0.05]
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
C
G
C
T
T
G
A
A
C
C
T
G
G
G
A
G
G
C
G
G
A
G
G
T
T
G
C
A
C
7950
C
T
T
A
G
A
T
C
A
C
A
C
C
G
T
T
G
C
A
C
T
C
C
C
G
C
C
T
G
A
G
C
G
A
C
A
G
A
G
C
A
A
G
A
C
T
C
T
G
T
8000
C
T
C
A
C
A
T
G
A
A
T
A
A
A
T
A
A
A
T
A
A
A
CCATTAGT GGCTCATGAA ATCAATGTAA
8050
TAGCTTCTGA CCAGAACAAA AGAAAGAAAA TAGAACACTC AGAATGCCTC
8100
TTATGAAGAC TAAGT
G
TAGT TCTGTGAA
T
C TTTTAGTGAC GTACATGTAT
8150 |
var(8116):[T:0.01]
|
var(8129):[C:0.18]
GTAGCACGTC TCCACATGTC ATGATGAATG TGCGCTGAGG GTGCAGTCCT
8200
GGTGAGCAGG CT
C
CCACCTC AGTTTGCCAC GGCTGGTATG CATCTGTGAG
8250 |
var(8213):[A:0.18]
CTCCGGAACA TCCACATAGC TCTGCCGCCC ACAGGAGCAG GTGCACCCAC
8300
CTTCGAGAAA GTGGGAGAAA CAGGTGTGGC
C
TCCCCACCG AGGGACCTTG
8350 |
var(8331):[G:0.18]
AGCACTGGGC AGGCAGAGCC CCAGCGTCCC TTCTGTTGGG TGGTTGGAGG
8400
AGTAAGTTTA GGTTATAAGC ATGTTTTCTG AACTCTGAAG TGCCACACGA
8450
ATG
C
AAGGTC TCACTAAATT ACAGATTCAG AAGCTGGGAT TGAAAGCACA
8500 |
var(8454):[T:0.16]
CCACTGCTGG CTTTGGGGGG CAGACAGGTG ACTGACAGTC TCGTCACAGT
8550
TTCTCAAGAG TCAGCCCTAT TCAGGTCAGT GAGCGCAGGT CAGGGATGAG
8600
GTCGCTGCAC TCTGCGTTCC CCAGTCCTGT ATGCGGCGTC AGTTTTGGCA
8650
GTCCACGTGT CTCTCCTGTA GAGGATTAGA GGGGCCAGCC CCATGGGTCT
8700
GCAGGGTTGG CGCACCGTCT GGGGAAGACA CTTGGAATGT GCTTTCGTTG
8750
GTGAGCCAGG TCAAGGAAAC TT
T
GGGGAAT GTTTGCAGAG AGCTGAGGAT
8800 |
var(8773):[C:0.01]
GGTTGTCTTG GGGCCTAAGT TTTTCTGACT TAAAAAGCAC CTCCTATTTG
8850
GGGTCTGTGT GGTAGTGACC C
T
T
T
T
T
C
T
T
T
T
T
T
A
C
T
T
T
T
T
T
T
T
T
C
G
A
G
A
C
8900 |
REPEAT
|
var(8895):[T:0.01]
G
G
A
G
T
C
T
C
A
C
T
G
C
A
A
T
G
C
G
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
T
G
C
A
A
T
A
T
C
G
G
C
T
8950
C
A
C
T
G
C
A
A
C
C
T
C
T
C
C
T
T
C
C
C
G
G
G
T
T
C
A
A
G
C
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
9000
C
T
G
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
C
A
C
C
A
C
C
A
C
G
C
C
C
G
G
C
T
A
A
T
T
T
T
T
G
9050 |
var(9039):[A:0.13]
T
A
T
T
T
T
T
A
C
T
A
G
A
G
A
T
G
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
T
C
G
G
G
C
T
G
G
T
C
T
C
A
A
A
9100 |
NOT SCANNED
C
T
C
C
T
G
A
C
C
T
C
G
T
G
A
T
T
C
T
C
C
T
G
C
C
T
T
G
G
C
C
T
C
C
G
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
9150
C
A
G
G
T
G
T
G
A
G
C
C
A
C
T
G
C
G
C
C
T
G
G
C
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
A
A
T
G
G
A
9200 |
REPEAT
G
T
C
T
T
G
C
C
T
C
A
T
C
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
A
A
G
T
G
G
T
A
T
G
A
T
C
T
C
A
G
C
T
C
A
C
9250
T
G
C
A
A
C
C
T
C
T
G
C
T
T
G
C
T
G
G
G
T
T
C
A
A
G
C
A
A
T
T
C
T
C
C
T
G
C
T
T
C
A
G
C
C
T
C
C
A
C
9300
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
C
A
C
A
C
C
A
C
A
A
T
G
T
C
C
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
9350
T
T
T
T
A
G
T
A
G
A
G
A
C
A
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
C
C
A
G
G
A
T
G
G
T
C
T
C
G
A
T
C
T
C
9400
T
T
G
A
C
C
T
C
G
T
G
A
T
C
T
G
C
C
T
G
C
T
T
C
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
9450
G
C
G
T
G
A
G
C
C
A
C
C
G
C
A
C
C
T
G
G
C
T
GGTAGTGG CCCTTTTTCA GGGGTTTACA
9500
GGTAAACTTT CCTTCCACTT TTTGAGATCT GGGGACATTA CATGGGAGTT
9550
GGAGGCAAGT CTCGGAAG
G
C TGCTGGGCCT TGTCCTGGGC GCAGGCTTCT
9600 |
var(9569):[T:0.02]
TAGGCCCACC TCAGGGTTGC CAAGGGGCAG GTGTGCAGAT CCATAGGGAC
9650
CAGCACCGGG GCTCTTCCAA GCAGGGCAAA GGTGTTAAGG GAACAGAGGA
9700
GAGCAGGGGG ATTGGGGGCA TCATGAGGAT GG
T
GGGGGAC AAGGCCAGAT
9750 |
var(9733):[A:0.16]
GGGGCTAAAC CCAGTGGC
T
G GGTTTCCTTC TGAGTGCCCA GGATGTTCCT
9800 |
var(9769):[C:0.20]
AGGGAGCCCT CAGTGAGGGG TGCCCTATTG TGGGTATGAA GGAGGAGCAG
9850
AGAGCAGGGT CGGGGCCAGA GAAGGGGCTA GTGCTGGCAG CATGGAGGCA
9900
GAGCCAGTGG AATTGGCCTG TGATTGGACA AGGAATGGGC TCAGAAAGCA
9950
TCCTGGATA
G
C
T
G
G
G
C
A
T
G
G
A
G
G
T
G
C
A
C
T
C
A
C
C
T
G
T
A
G
T
C
C
C
A
G
C
C
A
C
T
G
10000 |
REPEAT
G
A
G
A
A
A
C
T
G
G
C
G
G
G
A
G
G
A
T
C
G
C
T
T
G
A
G
C
C
C
A
G
G
A
C
T
T
C
C
A
A
C
C
T
G
T
A
G
T
G
10050
T
G
C
A
T
G
A
T
C
A
C
A
C
T
T
G
T
G
A
A
T
A
G
A
C
A
G
C
G
T
A
C
T
C
C
A
G
C
T
A
G
G
G
A
A
A
C
A
T
A
10100
G
T
G
A
G
A
C
C
C
C
T
G
T
T
T
C
T
A
A
A
G
A
A
A
A
A
T
G
A
A
A
GCCTCCTGG GTTTGGCTGA
10150
GTCCCTGGTG AATGGTGGAG CGGTCCTGAG AGCTGGGAAG ACCTCTTTCT
10200
GGCACAGCAA CCGGGGCAGA GGTGAGAGGA GAAGGGCCTC AGCAGTGTTC
10250
TGGCCTTTTG GGTTCATCCA AAACTTGCCG GTCCTGGGCC TGCTGGGAGA
10300
GGTCAGCCCC TTTCAGGTGA GCAGCTCTGG GGCCGGGTGA CCCACGCCAC
10350
CGTGTCGGGC ACACAGTGGT GCTTCGTTTT CCTCACTCCT GGGGCCACAG
10400
CCTTCCTGCT GCGGTTCTGC CTGGTGGGTG GGTCCATGCT GCTTTGAGGA
10450
GGCAAGTGAC CTAAGGCTTC CGGGACACTC TTTTGGCAAC TTGGGCCTTG
10500
GAAGGACAGC AGAGCAGGTG TGCAGTGTTA GGACCTGTGG CTGAGCTGAC
10550
CTAACAGCCT GCCTGGAGGC ATCAGTCAGG CTCAAGTAGA ACAGCAAGGC
10600
CCCCATCTTG GGGCTGTCGT CCAGGCACAG AGCGGTCAGC ATCTACTGTC
10650
CTTCCTGGAG AAAAAAGGGA AAATGCATTT GTCATTTAAA TGTTGGAATG
10700
G
G
C
C
A
G
G
C
A
C
G
G
T
G
G
C
T
C
C
T
A
C
C
T
G
G
A
A
T
C
C
C
A
G
C
A
C
A
T
T
G
G
G
A
G
G
G
C
A
A
10750 |
REPEAT
G
G
T
T
G
G
A
T
C
A
C
A
T
G
A
G
G
C
C
A
G
G
A
G
T
T
T
A
A
G
A
C
C
A
T
C
C
T
G
G
C
C
A
A
C
A
T
G
G
T
10800 |
var(10761):[T:0.02]
G
A
A
A
C
C
C
C
A
T
C
T
G
A
A
A
A
A
T
A
C
A
A
A
A
A
A
T
T
A
G
C
C
A
C
C
T
G
T
G
G
T
G
G
C
G
G
G
T
A
10850
C
C
T
G
T
G
G
T
C
C
C
A
G
T
T
A
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
T
G
A
G
A
A
T
T
G
C
T
T
G
A
A
C
C
10900 |
var(10880):[A:0.17]
C
A
G
G
A
G
G
T
G
G
A
G
G
T
T
G
C
A
G
T
G
A
C
A
G
A
T
T
G
C
T
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
A
G
10950
G
T
G
A
C
A
G
A
G
C
G
T
A
A
G
A
C
T
C
T
G
T
T
T
A
A
G
G
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
G
11000
A
A
TGGTTCTG AGAAGTCATT CCTTAAGTAA ATAAATTGCC ACCCCAGGTT
11050
GCCCTCTTGG GAGGGGACTC TGGAGGCCGC CCTCCACCCT TAGGCCAGGG
11100
CCTGTCAGTC CCTGCCTCCC TGGGCTGCCT CCTGGGGATC TCAGCC
A
ACA
11150 |
var(11147):[G:0.20]
CCATGCCCCT GTCCTTCCTC CACCTCTTTC CCAGGTTGCT CTGCCTG
G
AG
11200 |
var(11198):[C:0.18]
TCCACCTTCT AGGAGTGAGC CCCCCCACCC CCACTGGAAG TCCCTCTCTA
11250
GCTGTCCCCA GTTCCCTGAA TCAAGACTGC TTCCCTGCCA GAGAGATGAC
11300
CCCAATTCCT GCCTCCTCTC ACT
G
GGCTCT CAGGGGCCGG GACTGGGGAC
11350 |
var(11324):[A:0.18]
AGAGCATACT TAGAGCTAGC CCTGGCCCTC GGGCTGCTTT TGGAAGGAGG
11400
AGCATGGCAG GCGAGCATCA GGTGACACGT GCCCCCACGG GGAGCGCAAG
11450
AAGGCACTGG AGGCTGTTGC GAAGGAGCAG TGGGTTTCGG GTCCTCATGA
11500
CCGGCCCTGG TTCCGGGTGT GAGGCTGTGG AGA
T
GC
A
TGG GTCTGCCTTT
11550 |
var(11534):[C:0.18]
|
var(11537):[G:0.01]
CTCATCCGCA GCTTCCTGTT GCTACTTGGG AAGCTCCATG TTTGCTGTCC
11600
GGTTGTGTTT CGAGTCTGTT CTCTTGGGCG TCTGTGCC
G
T GGAAGTTCC
A
11650 |
var(11639):[A:0.01]
|
var(11650):[T:0.18]
TGTGCTTGAT AGGGCCAGCA CGTGTGAACA ATCTTCACTT CAGCTAGAAG
11700
CTTTGAAGTC TTTGGACTCA AGCTTTACCC AAACCGCTTA TAAGGTTGGG
11750
GGGAACCGAG TGCCTGTCTC TCCCCGC
T
T
T
T
T
T
T
T
T
T
G
A
G
T
G
G
A
G
T
C
T
C
G
11800 |
REPEAT
C
T
C
T
G
T
C
A
C
C
C
A
G
G
C
T
G
G
A
G
C
A
C
A
G
T
G
G
C
G
T
G
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
A
C
11850
C
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
G
C
C
C
G
C
C
G
C
C
A
C
G
C
C
C
G
G
C
11900
T
A
A
T
T
T
T
T
T
G
T
A
T
T
T
T
T
A
A
T
A
G
A
G
A
C
G
G
G
G
T
T
T
C
A
C
C
G
T
G
T
T
A
G
C
C
A
G
G
A
11950
T
G
G
T
C
C
C
G
A
A
C
T
C
C
T
G
A
T
C
T
C
A
T
G
A
T
C
T
G
C
C
C
A
C
C
T
C
G
G
C
C
T
C
C
C
A
A
A
G
T
12000
G
C
T
G
A
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
AGTTGTAGTT CGTTGAGAGG GAGACAGACC
12050
TCGAGGAAAT GCTTGGTGTG CCTGCCGGGT GACTGCTCGC TCTCCTTGTC
12100
TGCTCACTCT GCCCAGTGAA TGGGTCTAGG CATCCTCATT GTTCCCTTCC
12150
TCTGTCCTCA ACATCAGCCC AACCCTGACC AGGCCCCTTC CTGAGGTTCC
12200
CACACAACAG GGGCTCCATG TTCAGAAGGG GAGAGAGAAA CCCACCTGGG
12250
GATGCTCTGT AAGGAGAGCA GAGCCCAGTG GAGTCTCTGC CCGGGACGCT
12300
GAGG
G
A
G
G
AA GAGCTGCGGT TAATTCAAAA GGAAGGGTGA GGTGCAGGTA
12350 |
var(12305):[:0.82]
TTGGCTGGAC GATGCTCAGA GAAGCAGGAA GAGTGGGCAT GGCACTGAGT
12400
GGCTGAGGCC ATCACTGGTG GCCTTGGTGC TTAG
A
G
A
G
GC AGAAGGAGAG
12450 |
var(12435):[:0.19]
GGCATGGTGC AGGGCGCTGA GGCCGTCTGT GGCTGCCTTG GTGGGGCTTA
12500
CTGAGTTCTA GTGGACAGCA AGGTGCCAGG GCAGGGCTGG CACATGGAGG
12550
GCTCTGAAGG CCATGTGTAT
A
GTCT
A
AAGT GAGGGAAACC CGTGGTAGCT
12600 |
var(12571):[C:0.20]
|
var(12576):[G:0.20]
AAAGGGAATG CACTAGCCAG CCCCAGGTGC GCCACATTCC TGCTCTAGGG
12650
GCTGGAGGGA AACCCGTGGT AGCTAAAGGG AATGCACTAG CCAGCCCCAG
12700
GTGTGCTACG TTCC
C
GCTCT CGGGGCTGGA GGGGAACCCG TGGTAGCTAA
12750 |
var(12715):[:0.95]
AGGGAGTGCA CTAGGCAGCC CCAGGTGTGC TACGTTCCCG CTCTCGGGGC
12800
TGGAGGGAAA CCCGTGGTAG CTAAAGGGAA TGCACTAGGC AGCCCCAGGT
12850
GTGCTACGTT CCCGCTCTCA GGGCTGGAGG GGAACCCGTG GTAGCTAAAG
12900
GGAGTGCACT AGCCAGCTCC AGGTGTGCTA CGTTCCGCTC TCGGGGCTGG
12950
AGGGGAACCC GTGGTAGCTA TAGGGAGTGC ACTAGCCAGC CTCAGGTGTG
13000
CTACGTTCCC GCTCTCGGGG CTGGAGGGGA ACCCGTGGTA GCTAAAGGGA
13050
GTGCACTAGC CAGCCTCAGG TGTGCTACGT TCCCGCTCTC GGGGCTGGAG
13100
GGGAA
C
CCGT GGTAGCTATA GGGAGTGCAC TAGCCAGCCT CAGATGTGCT
13150 |
var(13106):[T:0.16]
ACGTTCCCGC TCTCAGGGCT GGAGGGGAAC CCGTGGTAGC TAAAGGGAGT
13200
GCACTAGCCA GCTCCAGGTG TGCTACATTC CCGCTCTCGG GGCTGGAGGG
13250
GAACCCGTGG TAGCTAAAGG GAGTGCACTA GCCAGCCCCA GGTGTGCTAC
13300
ATTCCCGCTC TAGGGGCTGG TCTGGCGGCA TGGCTCTCTC CTGAGTGCCT
13350
TCAGAGCCTG AGTGCCAGCA GGCAGGCGTC TCCTGCCCAG TGGGTTTGGT
13400
AAGATATATT TCAGAAGGCA TCCACCACTC TAAAACATGC TTATTGCAGG
13450
AACCATGGGG GAGACCAAAG GGCCTAGAGC CTTGAGAACC TCTGACCATT
13500
AGTGTTAACA GGAAGGCAGC CTGTTCCCCT AGCTGGGGAG GGGGTTGTGC
13550
GTGGCAGGAA GCCCGTGCGT CTGTGTCTCT TTGGAGCTGT GGGTTGGTTG
13600
TGTGGA
C
GCC
A
GCTGTGTGG TCCCCAG
C
C
T
C
A
C
T
G
A
G
C
C
T
G
A
G
T
T
T
C
C
A
T
13650 |
var(13607):[T:0.19]
|
var(13611):[G:0.01]
|
REPEAT
|
var(13647):[T:0.01]
A
C
T
A
G
C
G
G
C
G
G
G
A
G
A
T
G
G
G
A
C
T
A
G
A
G
G
G
T
C
T
C
C
A
A
G
G
C
T
C
C
C
T
G
A
A
G
C
T
C
13700 |
var(13659):[T:0.01]
T
G
C
G
A
T
T
C
T
G
C
T
T
C
T
C
T
G
A
G
T
C
TTGACCGC AGGTCAGTGG GGACCCGGCC
13750
CCTCACCATC GCCTGCTACT GATCACCATT GGTTTGGTTT TGTCTCGAGG
13800
ACTGTTCTGG AATTGAGGTG TAACGTGCTG TGTGTTCTTC CTTAG
G
G
C
T
T
13850 | Exon 2 |
UTR
T
G
T
T
C
G
C
G
G
G
G
G
T
C
A
C
A
G
C
T
C
T
C
A
T
G
G
C
T
G
C
A
G
C
T
A
G
C
G
T
G
A
C
C
C
C
C
C
C
T
13900
M A A A S V T P P 9
G
G
C
T
C
C
C
T
G
G
A
G
T
T
G
C
T
A
C
A
G
C
C
C
G
G
C
T
T
C
T
C
C
A
A
G
A
C
C
C
T
C
C
T
G
G
G
G
A
C
13950
G S L E L L Q P G F S K T L L G T 26
C
A
A
G
C
T
G
G
A
A
G
C
C
A
A
G
T
A
C
C
T
G
T
G
C
T
C
C
G
C
C
T
G
C
A
G
A
A
A
C
G
T
C
C
T
C
C
G
C
A
14000
K L E A K Y L C S A C R N V L R 42
G
G
C
C
C
T
T
C
C
A
G
G
C
G
C
A
G
T
G
T
G
G
C
C
A
C
C
G
G
T
A
C
T
G
C
T
C
C
T
T
C
T
G
C
C
T
G
G
C
C
14050
R P F Q A Q C G H R Y C S F C L A 59
A
G
C
A
T
C
C
T
C
A
G
GTGCATGGG GCCTGCAGGC TGGGAGGAGG GGCAGGCAGG
14100
S I L S 63
CTAGGCTGGT TTTAGAGCCA CGCTGCCCAG CCTGGTAGCT CCCAGC
A
GAG
14150 |
var(14147):[C:0.01]
CCGGGTCCAG CTT
A
G
A
T
G
T
G
C
T
C
C
A
G
T
T
A
T
C
G
A
T
A
C
T
C
C
C
T
G
G
A
T
T
T
C
G
G
14200 |
REPEAT
A
G
G
T
T
T
A
C
C
A
C
A
A
A
G
A
A
T
G
T
A
A
A
A
T
T
A
A
T
A
A
T
T
T
T
A
A
A
A
T
A
G
C
A
A
T
T
T
G
A
14250
A
A
T
A
C
G
A
T
T
T
T
G
G
A
T
A
C
A
T
G
G
G
G
T
T
A
A
A
T
A
T
A
G
T
A
C
G
T
C
A
T
T
A
C
A
G
T
T
A
A
14300 |
var(14255):[T:0.02]
T
T
T
T
A
T
C
T
T
T
T
T
A
T
T
A
T
T
T
T
T
A
A
T
G
T
G
A
G
T
A
C
T
G
G
A
A
A
G
T
T
T
A
A
A
G
T
G
C
C
14350
A
C
C
T
A
C
T
G
C
T
C
A
C
T
T
T
TTGG CTGCTCTAGG CAGCTAAGAC AGCCGCCTTC
14400
CTTGCAGC
G
A GTGGTCTGAG AGGTGTGGCC TGTGCACATC GGCAGCAGCT
14450 |
var(14409):[A:0.05]
CGGCCTGTCG GGAGAGCCGG CAATACCTGA GTTACTGCAG CAGATGTCCT
14500
TGGCGGTTCA GGC
G
TGCCTT CCTCA
A
AAAC GGAGTGATAA AAAC
A
G
TGTG
14550 |
var(14514):[T:0.01]
|
var(14526):[C:0.19]
|
var(14545):[:0.01]
CTGTGAATAC TGGGGTTTAA AACATGTCCT GTTAACATTT GCCTGCTGTT
14600
GGTTTCACTA AGGATGAGAA AGTTTAAACT GTG
G
TGTGGA GGTAGGTTTT
14650 |
var(14634):[T:0.02]
TGAACTGAAG CAAATGGTGT TTGTTTTTTG CATTAGGTTT CACAGTGGGT
14700
TGTTTTTTGC CTTTTTTCCC CACTAG
C
T
C
T
G
G
G
C
C
T
C
A
G
A
A
C
T
G
T
G
C
T
G
C
14750 | Exon 3
S G P Q N C A A 71
C
T
G
T
G
T
T
C
A
C
G
A
G
G
G
C
A
T
A
T
A
T
G
A
A
G
A
A
G
G
C
A
T
T
T
C
T
A
T
T
T
T
A
G
A
A
A
G
C
A
14800
C V H E G I Y E E G I S I L E S 87
G
T
T
C
G
GTAAG TAAAATGTCT TGAAGCTAAA AATGTTGAAC AGAAAATGTC
14850
S S 89
TTAATTTCCT TTACAACATG GGTGG
G
G
C
T
G
G
G
C
A
C
A
G
T
G
G
C
T
C
A
C
A
C
C
T
G
14900 |
REPEAT
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
C
A
G
G
T
A
G
G
G
G
G
A
T
T
G
C
T
T
G
A
G
T
C
C
A
G
G
14950
A
G
T
T
T
G
A
G
A
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
T
A
G
T
G
A
G
A
C
C
C
T
G
T
C
T
C
T
A
C
A
A
A
A
A
G
15000
C
A
A
A
A
A
A
C
T
T
A
T
CAGG
G
G
C
C
G
G
G
C
T
C
A
G
T
G
T
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
15050 |
var(15012):[C:0.19]
|
REPEAT
C
A
C
T
T
T
G
C
A
G
G
G
C
C
A
A
A
G
T
G
G
G
T
G
G
A
T
C
A
C
C
T
G
A
G
G
T
A
A
G
G
A
G
T
T
C
G
A
G
A
15100
C
C
A
G
C
C
T
G
G
C
G
C
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
A
T
C
T
C
T
A
C
C
A
G
A
A
A
T
A
C
A
A
A
A
A
A
15150
T
T
A
G
C
C
G
G
G
T
G
T
G
G
T
G
G
C
G
C
A
C
G
C
C
T
A
T
A
G
T
C
C
C
A
G
C
C
A
C
T
T
G
G
G
A
G
G
C
T
15200
G
A
A
G
T
G
G
G
A
G
G
A
T
T
G
C
T
T
G
A
G
G
C
T
G
G
G
A
G
G
C
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
A
A
15250
G
A
T
C
G
C
A
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
A
C
C
T
G
G
G
T
T
A
C
A
A
A
G
T
G
A
G
A
C
C
C
C
T
C
C
T
15300
T
T
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
GGGCCGCC AGAAGTTGTC CCTTAGCAGA
15350 |
var(15316):[G:0.19]
|
var(15319):[T:0.19]
CTCCTGAAGT TTAGGGTTTG GAAACTTTGG CATCAAGGTG AGTCCAAAAA
15400
TAAAAAGGAA TCAGAGAGTC ATCCTCTGCT CCTGGAGTGG CCTGGAAAGG
15450
CGATGTGACG CAGTATTGGT TGGTTTGGAC GTGTGGTCTG TGTTCCTTGG
15500
TTGCTGCAGG GAGTCTGGGA GGAG
G
TTTAA CCC
G
AGGGAT ATTCCTCTCC
15550 |
var(15525):[T:0.01]
|
var(15534):[A:0.01]
CCAG
G
C
C
T
T
C
C
C
A
G
A
T
A
A
T
G
C
T
G
C
C
C
G
C
A
G
G
G
A
G
G
T
G
G
A
G
A
G
C
C
T
G
C
C
G
G
15600 | Exon 4
A F P D N A A R R E V E S L P 104
C
C
G
T
C
T
G
T
C
C
C
A
G
T
G
A
T
G
G
A
T
G
C
A
C
C
T
G
G
A
A
G
G
G
G
A
C
C
C
T
G
A
A
A
G
A
A
T
A
C
15650
A V C P S D G C T W K G T L K E Y 121
G
A
G
GTAAAGA TGCCTGCGTG TGGCATGGTG ACAGAAGCTC CAG
C
AGTCGG
15700 |
var(15694):[T:0.02]
E 122
GAGTCGTCCA CGCTCCCCAA GCAGTTATGA CCTTGTCCTG CACGTTCCTC
15750
TCACTGGGGC TGAAGCCTGT CTGATGTCTG TGGAGGAAGA GACGGAGCTG
15800
CTCCTTAGAG TATGTCCATT TAGAAACTCA AGTAGTGCAG AGCACAGACC
15850
TGCACCATGG AGCTTGG
G
C
T
G
T
G
T
G
A
C
C
T
C
G
G
G
C
G
A
G
G
T
A
T
T
T
A
C
C
C
T
C
T
15900 |
REPEAT
C
T
G
T
G
C
C
T
C
A
G
G
T
T
T
C
T
T
G
T
C
T
G
T
C
G
A
T
G
G
G
G
G
T
G
C
A
G
G
A
T
C
C
C
A
C
C
A
T
C
15950
G
T
G
G
G
G
T
G
G
C
T
G
T
G
A
G
G
G
T
T
G
G
A
GGTGCCT GTGTGAGCCC TGGGAATGCC
16000
ATGGTTATCT GAGCAGTAGC ATTTCCTGG
G
AATGAAGGGG AGATCGCTGT
16050 |
var(16030):[A:0.01]
GCACCAGGAC CTGCAGCTTT CAAGTTTGGT GGGGGTTTTT GTTGTGTCTC
16100
TTGTATCCAC AAAGGATTGC TTATTTTGAA TTGTGTTGAC ACTGGAAATT
16150
GCAGAAATAA TGGACACACT TGTCCTGTGG TCAC
G
GCAAC ATAGGCAGTG
16200 |
var(16185):[A:0.20]
GCCCGCACTT CACTTGGCTG TGGTTTGTCC CTGTGTGCTG GGCGAGCCGT
16250
G
T
G
C
T
G
G
G
C
G
A
G
C
C
G
T
G
CAC GCCTTCCTGC ACTGGGGATT TCAGTGTGAT
16300 |
var(16252):[:0.73]
TCTCACGTCA CCTTTTAGGC ATTTGGAAAC TTCACCTGTA GTGTAGAGGC
16350
CAGGAGGTGC CGAGAGAGCT CGTCGAGGCC ACTACAGCTC GCCAAGTTAT
16400
GCAGTCTTCC TTCTTGTAAT GAATGCCCTT TAAGAGGTTT CTCTCTGG
G
A
16450 |
REPEAT
T
C
C
T
T
G
T
A
C
A
G
G
A
T
T
C
C
T
G
G
A
G
T
A
A
C
A
C
T
G
T
C
C
A
C
A
G
A
G
C
C
C
A
A
A
G
G
T
A
G
16500
A
G
G
C
A
G
C
C
C
A
G
T
G
T
C
T
G
C
G
G
A
T
G
A
A
T
G
G
A
T
A
A
A
C
A
C
G
G
G
A
A
G
T
G
T
G
A
T
C
T
16550
G
T
G
C
A
C
A
C
A
G
T
G
G
G
A
T
A
T
G
A
T
T
C
A
G
C
C
T
T
A
A
A
A
A
G
G
A
A
G
G
C
G
A
T
T
C
G
G
A
C
16600
A
C
A
C
A
C
A
C
C
C
C
A
G
G
G
A
T
G
A
A
C
T
C
T
G
A
G
G
A
C
A
G
T
G
T
G
C
T
G
A
G
T
G
A
C
A
T
G
A
G
16650
C
C
A
G
T
T
A
C
C
A
A
A
G
G
A
C
A
G
A
T
C
C
T
C
T
G
T
G
A
T
T
C
C
A
C
T
T
A
G
G
G
G
C
C
A
C
C
C
T
T
16700
A
G
A
G
T
C
A
T
C
A
G
A
T
C
C
A
T
G
G
G
T
A
C
A
G
G
A
A
G
T
A
G
A
A
T
G
G
A
G
G
A
G
A
C
A
G
G
G
G
T
16750
CATTGTTCAG TGAGTACCGA GTCATACATT GGAATGAGGC AGTACCTTGA
16800
TGCCATCCAA TCCAG
C
CCCA GGTTGGTGAG GCTGTGAGGG CTGTTTGCTC
16850 |
var(16816):[T:0.01]
AGAATCCTGG CTTTCTGCAC TTAGGGGAGC TTCCTGCCCG GGCCAGAGCT
16900
GGGATCTCCT GCTCAGCCGG ACCCTGGGGT GTTACCGGCT GGGTTGGAAT
16950
TGGACCTGCA TTACTGT
G
TG TTTCTCCTCT CCTGCTCCCC GCCCTGTGAG
17000 |
var(16968):[A:0.01]
CCTGGCCACG CCTCCCTCTT CTCCTCGCCC ACTCCCCACC CTGTGAGCCT
17050
GGCCACACCT CCCACGATCT TTTGACAGAC TCTGCTTTGT GGTCTTTGGG
17100
CTCCAAGTTT CGTTT
C
TTCA GAAGAACTGC CCCAGCTGTG TCTGGGGTGA
17150 |
var(17116):[T:0.26]
ACAAGATGTG CTTTCCTCCC TAGCACGGGG ATTGCGTCCT
G
GACACGGAG
17200 |
var(17191):[C:0.01]
CGGTAGCTCC AGGGCACTGC CCTAGAGTGA GACTCCTACC TCTGTGGGCA
17250
GAGATGCCAG ACCGCCCTCA GCCACGACGT GCGATGCAAA GCTTTCTAGG
17300
CTCCTGTGTG GCTCTGCCGC ACAAAC
G
GCT GTGGC
A
CATG GCATTGTACC
17350 |
var(17327):[A:0.06]
|
var(17336):[G:0.26]
CCCCACTCC
C
TGCTCCTTGA AAGAGATGCA GCTTGGTCAT TGCCCAGTGC
17400 |
var(17360):[G:0.01]
TGTCTGCAAG GGAGATGGCT CCCTGGGGAG GTGGCCCAGG GTCAGGGTCT
17450
CCCTGGGAGG GTTGGGGTAC CAGCTGGCTG CAGGGAGTAG GGGTGCTATG
17500
CGCCATGCCA CCCTTTGAGA GGACTGAGGA GTGTCTGGGG GACAGGTGGG
17550
ATAATAGTTT CCAGCTCTGC ACTGGACCCT GAGTCCTCTG GGGTCTCTGC
17600
CACCTCCAGG CTCATGGGAT GCCACATTGA CAATTATGAG GGCCTCCGGC
17650
TGAGGGCCAA GGACTATAGC CAGCCCCTGG CCTGGGGCGC CACGCGGTCC
17700
TGCAGGCACG CAGGGTGGAA AGTCCCTGGC TGCACCTTTG AGAGCTCTGG
17750
AAAGTCCCTG AGAGGAGCCG GGTTTGGTCA TGTGGGAGGG GC
G
GGCACTG
17800 |
var(17793):[A:0.01]
CTCTGGAATA ACTTGGCTGT GGCCTTTGAT TTTGTTGATA AAACCTCTCA
17850
CTGGCTGTAA ATGTCACACA TGGGGACGGA AATCAACC
C
G TCTATACAGT
17900 |
var(17889):[T:0.01]
TGGGAGCCGC TCTGCCCCTC GGAGCCGCCT CTCTTTGCTC TCCGGGTGCT
17950
CGGAGTGTGC TGCTAGTTGG GGCCTTATTG TAAACACAGT ACGGAGGCTA
18000
AGGCTGCCTT TCCTCCTTGA TGGTCG
G
AAC TTTATTGGAA AAGGGGAAAA
18050 |
var(18027):[C:0.02]
TCCTGCTTAG CTTTTGAATG TTTGTCCTTT GCAATGATGC CTTTCTAGGA
18100
ACTGAATGA
T
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
T
T
A
T
T
T
T
T
T
T
G
A
G
A
C
A
G
G
G
T
C
T
T
G
C
18150 |
REPEAT
|
var(18141):[:0.18]
T
C
T
G
T
T
G
T
C
C
A
G
G
C
T
A
G
A
G
T
G
C
A
G
T
G
G
C
G
T
G
A
C
C
T
C
G
G
C
T
C
A
C
T
G
C
A
G
C
C
18200
T
C
C
A
C
C
T
C
C
C
A
G
G
T
T
C
A
A
G
T
G
A
T
T
C
T
T
C
T
G
C
C
T
C
A
G
C
C
T
A
C
A
G
G
C
G
C
C
T
G
18250
C
C
A
C
C
A
C
A
T
C
C
G
G
C
T
A
A
T
T
T
T
T
T
A
T
A
T
T
T
C
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
T
T
A
C
18300 |
var(18262):[A:0.01]
C
A
C
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
T
A
C
C
T
C
A
A
G
T
G
A
T
C
C
A
T
C
C
A
C
18350
C
T
T
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
A
G
A
T
T
C
C
T
G
G
C
A
T
A
A
G
C
C
A
C
T
G
C
A
C
C
T
G
G
C
18400 |
var(18374):[C:0.07]
C
AAATCGAAT AATTTTAAAA CTTTAGGTAA ATGTTGATGG AGTGCTTGCT
18450
GAGTGCCA
A
T
AGCAGAACTG AATTCCCCAG TGGGCCCCTG AGCTACTCGT
18500 |
var(18459):[G:0.01]
|
var(18460):[C:0.01]
TCTGGCAGCT GGATGCGGGG GTGCGGGGAG ACTTTCCAGA GAGGACATAG
18550
GCTGGCTGCA CGAGCAGCGG AAAGGCCAGG AAAAGCCAAG TATGCTCGGC
18600
CTCA
C
GGACA TTCTAGTGAC ATTCAGAGGG ATGACGACTG TATTTGCGTC
18650 |
var(18605):[T:0.20]
AAATGTGTAG TTTGAATTCT GGCTGAATAA ATATTGATTT TTTTTTTTTT
18700
T
AACTGTGTC TGCTGTGGGT GG
G
GAGAAGA CTGAGACAGA TGGTGCTGGT
18750 |
var(18701):[A:0.20]
|
var(18723):[A:0.02]
GTAGATGTAT CTGCTGCAGG ACAACCCTGG TCCCACTGGA GATTTCAAGT
18800
ACCGAGTGCC AAGAGAAAGG
T
T
T
T
T
T
T
T
G
T
T
T
G
T
T
T
G
T
T
T
T
T
T
G
T
T
T
T
T
T
18850 |
REPEAT
|
var(18841):[G:0.18]
G
C
G
A
T
G
G
A
G
T
C
T
C
A
C
T
C
T
G
T
C
A
C
C
C
A
G
A
C
T
G
G
A
G
T
G
C
A
G
T
G
G
T
G
C
G
A
T
C
T
18900
C
G
G
C
T
C
A
C
T
G
C
A
A
G
C
T
C
C
G
C
C
T
C
C
C
G
G
G
T
T
C
A
C
A
C
C
A
T
T
C
T
T
C
C
T
G
C
C
T
C
18950
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
G
C
C
C
C
C
A
C
C
A
C
T
C
C
C
G
G
C
T
A
A
T
19000
T
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
A
G
C
C
A
G
G
A
T
G
G
19050
T
C
T
C
G
A
T
C
T
C
C
T
G
A
C
C
T
C
G
T
G
A
T
C
C
G
C
C
T
G
C
C
T
C
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
19100 |
var(19085):[A:0.01]
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
C
C
A
C
C
G
C
G
C
C
C
A
G
C
C
AAGAAAGA TTTTATTTTT
19150 |
var(19123):[A:0.01]
GACATTTCGA GCATGCAGCG CATCTGAGCA GTGAGGCTGA GAGTAGAGGT
19200
GTGCCGCTGC CCCACAGGCC TACATGCTGC CCCGCAGCAC CTGCCAGCCT
19250
TCGCCAGCC
T
ACTTTCAGCC CTTCAACCCC CCACACACAT TTTTTTCTTT
19300 |
var(19260):[C:0.05]
TCTGGCTTAT TTTAAAGCAA ATGAAGATGT CATATCATTT CACCTATGAG
19350
CA
T
T
T
T
A
T
T
A
T
T
A
T
T
A
T
T
T
T
T
A
G
A
A
A
T
A
G
A
G
T
C
T
T
G
C
T
C
T
G
T
T
G
C
C
T
A
G
G
19400 |
REPEAT
|
var(19361):[C:0.18]
|
var(19385):[C:0.20]
C
T
A
G
C
G
T
G
T
A
G
T
G
G
T
G
G
G
A
T
C
A
T
A
G
C
T
C
A
C
T
G
C
A
G
C
C
T
C
A
A
A
C
T
C
C
T
G
G
G
19450
C
T
C
A
A
G
T
G
A
T
C
C
T
C
C
C
A
C
C
T
T
G
G
T
C
T
C
C
T
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
19500
G
G
A
A
C
C
C
A
C
T
G
T
G
C
C
T
G
G
C
C ATTTTACTAT GTTTTAAAGA ACAG
T
C
T
T
T
T
19550 |
var(19516):[C:0.20]
|
REPEAT
T
T
A
T
T
T
T
T
A
T
T
T
T
T
T
T
A
T
T
T
A
T
T
T
G
A
G
A
T
G
G
A
G
T
C
T
C
A
C
T
C
T
G
T
C
G
C
C
C
A
19600
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
C
G
A
T
C
C
C
G
G
C
T
C
A
C
T
G
C
A
A
G
C
T
C
C
A
C
C
T
C
C
C
A
19650
T
G
T
T
C
A
C
G
C
C
A
T
T
C
T
T
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
G
A
G
T
A
G
C
T
A
G
G
A
C
T
A
C
A
G
G
19700 |
var(19651):[C:0.20]
C
G
C
T
C
A
C
C
A
C
C
A
C
T
C
T
C
G
G
C
T
A
A
T
T
T
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
G
G
19750
G
G
T
T
T
C
A
C
T
G
T
G
T
T
A
G
C
C
A
G
G
A
T
G
G
T
C
T
C
A
A
T
C
T
C
C
T
G
A
G
C
T
C
G
T
G
A
T
C
C
19800 |
var(19778):[C:0.03]
A
C
C
C
G
C
C
T
C
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
A
G
G
C
G
T
T
A
G
C
C
A
C
C
G
C
19850 |
var(19838):[T:0.01]
|
var(19850):[T:0.01]
G
C
C
T
G
G
C
C
TA AAGAACAGTC TTTTAATTAA ATCTAAGAAC ATTGACTATT
19900
TGTGCTTTCG TTTTTAGGTT TCATAAGCCA GAATAGTTGC T
T
C
A
T
A
A
A
A
G
19950 |
var(19942):[:0.18]
C
C
A
T
A
A
T
A
G
T
T
G
C
T
GAGGCT CCTCTTTGAT TCAGCTTGAT GGTGGCTTGT
20000
TACACACTAG TGTGGCCGAG GGCTGGGTCC TGTCCC
A
TCA GTGGGTAGCA
20050 |
var(20037):[G:0.26]
GAGTGCAAGG CGCTGTTGGG TTCAGGGAGT TGGTTCCTTT AGCAGGCTTA
20100
GCTTGGGCCA GTGCCGCTGG AGGTCTTGGA GGGCTGGGCC CATGTTCCCT
20150
GGGGCGCCTC TAAGGAGTAG TTGCTGTGCC TGTGTGAAGG TTTGGGAGGA
20200
ACACTCCCTG GGGAGGTTGA ATGGAAGCCA GCCCAAGTGC CTGTGCTGTC
20250
CAGAGCAGGG TCTCCCCTCT TGGGGGAAGT AGCATTAACC TTTCCTGAGT
20300
CACTTGGGGC TCCTGAGCTG TAGCCAGCTC TCTATGGAGC TGCTGACCCC
20350
CACTCCCCAC CCCATGAAGG GCCCCGCAGC CAGGTCCTCT GCTGCCCTGG
20400
CCTCTCAGGA ACCTTCCTCT CAGCACATTG TCCTCCTCTC TCCG
G
GTTGT
20450 |
var(20445):[A:0.01]
GCCCATCGGT ACAGAATATG CTCTAGTCTC TCCTGTC
T
CA AAACTTAGTG
20500 |
var(20488):[C:0.01]
T
T
G
T
G
C
T
C
A
G
T
G
A
G
C
T
A
A
G
C
T
A
G
G
C
A
C
A
A
G
A
A
G
A
T
A
A
A
G
A
C
T
G
C
G
T
G
A
A
T
20550 |
REPEAT
T
C
A
C
T
G
A
C
A
G
A
G
T
C
C
C
C
G
G
A
G
T
G
G
T
C
A
A
A
T
T
G
A
G
A
G
C
C
A
A
T
A
G
A
T
G
G
T
G
C
20600
T
G
G
G
G
G
C
T
G
G
A
G
C
A
G
G
G
G
A
A
T
G
G
G
G
A
G
T
T
A
G
G
G
T
T
T
A
A
C
A
G
G
G
A
C
A
G
G
G
T
20650
T
T
C
A
G
G
T
T
T
C
T
A
C
A
A
T
G
G
G
A
A
A
G
C
G
T
G
A
T
G
G
A
G
G
T
A
G
A
T
G
G
T
G
G
T
G
A
T
G
G
20700
T
T
A
C
A
T
A
A
C
A
T
C
A
G
T
G
A
A
A
T
G
T
A
C
T
T
A
A
T
A
C
C
A
C
A
G
A
A
C
T
G
T
G
C
A
C
T
T
G
A
20750
A
A
A
T
G
G
T
T
A
A
G
A
T
G
A
T
A
C
A
T
T
T
T
A
T
G
T
T
T
A
T
C
A
T
G
A
T
T
G
A
A
G
A
A
A
CAGCA
20800 |
var(20754):[G:0.01]
GATTTTCA
A
C
T
T
C
C
T
G
T
T
C
C
T
T
T
G
A
C
T
T
C
C
A
T
T
C
C
C
T
T
T
C
T
C
T
G
T
T
C
C
C
A
20850 |
REPEAT
G
T
C
A
T
A
G
C
A
G
A
C
T
T
C
T
C
C
C
A
A
A
A
G
A
C
G
T
G
T
T
T
A
A
C
T
C
T
G
G
C
C
A
G
G
C
A
C
A
G
20900 |
var(20877):[A:0.02]
|
REPEAT
G
G
G
C
T
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
T
A
C
T
T
T
G
G
G
A
G
G
C
T
T
A
G
G
T
G
G
G
C
A
G
A
T
T
20950
G
C
T
T
G
A
G
C
T
C
A
G
G
A
G
T
T
C
A
A
G
A
C
C
A
G
C
C
T
G
G
G
T
A
A
G
A
T
G
G
C
T
C
T
A
C
C
G
C
C
21000 |
REPEAT
G
G
G
C
G
C
G
G
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
A
A
G
G
C
A
21050
G
G
T
G
A
A
T
C
A
C
G
A
G
G
T
C
A
G
G
A
G
A
T
T
G
A
G
A
C
C
A
T
C
C
T
G
G
C
T
A
A
C
A
C
G
G
T
G
A
A
21100
A
C
C
C
T
G
T
C
T
G
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
A
A
T
T
A
G
C
C
G
G
G
T
G
T
G
G
T
G
G
C
G
G
G
21150 |
var(21132):[T:0.02]
C
G
C
C
C
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
C
A
G
G
A
G
G
C
T
G
A
G
G
C
A
G
A
A
G
A
A
T
G
G
T
G
T
G
A
A
21200 |
var(21156):[A:0.01]
|
var(21195):[C:0.27]
C
C
C
A
G
G
A
G
G
T
G
G
A
G
G
T
T
G
C
T
G
G
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
C
G
C
G
C
C
A
C
T
G
C
21250 |
var(21234):[T:0.01]
|
var(21235):[A:0.01]
A
C
G
A
C
A
G
A
G
C
A
A
G
A
T
T
C
C
A
T
C
T
C
A
A
A
A
C
A
A
A
A
A
C
A
A
A
A
A
A
C
C
A
A
G
A
T
G
G
C
21300 |
REPEAT
T
C
T
G
C
C
A
A
A
A
A
T
A
C
A
A
A
G
A
A
A
T
T
T
A
G
C
T
G
G
G
T
G
T
G
G
T
G
G
T
G
C
G
T
G
C
C
T
G
T
21350
A
T
T
C
C
T
A
T
A
G
T
C
C
C
A
G
C
T
A
T
G
T
G
G
G
T
G
C
T
G
A
T
G
T
C
G
A
G
G
C
T
G
C
A
G
T
G
A
C
C
21400
T
G
T
A
T
T
C
T
T
A
C
C
C
C
T
G
C
A
C
T
C
C
A
G
C
C
T
A
G
G
T
A
A
C
T
G
T
A
T
C
A
G
T
C
C
A
T
T
T
T
21450 |
REPEAT
C
A
T
A
C
T
A
C
T
A
T
A
A
A
G
A
A
A
T
A
C
C
C
G
A
G
A
C
T
T
G
G
G
T
A
G
T
T
T
A
T
A
A
A
G
A
A
A
A
A
21500
G
A
G
G
T
T
G
A
A
T
G
G
A
C
T
C
A
T
A
G
T
T
C
C
A
T
G
T
G
C
C
T
G
G
G
G
A
G
G
C
C
T
C
A
C
A
A
T
C
A
21550
T
G
G
A
G
G
A
A
G
G
C
A
A
A
G
G
A
G
G
A
G
A
A
A
G
G
C
A
C
G
T
C
T
C
A
C
A
T
G
G
C
A
G
C
A
G
G
C
A
A
21600 |
var(21551):[C:0.02]
G
A
G
A
G
C
A
T
G
T
G
C
A
G
G
G
G
A
A
C
T
G
C
C
C
T
T
T
A
T
C
A
A
A
C
C
A
T
C
A
G
A
T
C
C
C
A
T
G
A
21650
G
A
C
T
T
A
C
T
A
T
C
A
C
G
A
G
A
G
C
A
G
C
A
C
G
G
G
A
A
A
A
A
C
C
C
A
C
C
C
C
A
T
G
A
T
T
C
A
A
T
21700
G
A
C
C
T
C
C
C
A
C
C
A
G
G
C
C
C
C
T
C
C
C
A
C
A
A
C
A
C
A
T
G
G
G
G
A
T
T
A
T
G
G
G
A
G
T
T
G
C
A
21750
A
T
T
C
A
A
G
A
T
G
A
G
A
T
T
T
G
G
G
T
G
G
G
G
A
C
A
C
A
G
C
C
A
A
A
C
C
A
T
A
T
C
A
G
T
G
A
C
A
A
21800 |
REPEAT
A
G
T
G
A
G
A
C
C
C
T
G
T
C
T
C
A
A
A
A
A
A
C
A
A
A
A
C
A
A
A
A
C
A
A
A
A
A
GC CCTGTTTAGT
21850 |
var(21833):[:0.01]
TTTATTTCTG TACCTCACCA GCCCCTTATG GAGGCAGGTG GGA
C
C
T
C
C
T
G
21900 |
REPEAT
T
G
G
C
T
T
G
G
G
C
C
A
G
A
G
G
C
C
T
G
A
G
A
G
T
C
C
T
T
C
T
T
G
A
C
T
T
C
T
C
T
G
T
G
T
T
C
C
T
G
21950
T
A
A
G
C
G
G
C
A
C
G
T
T
C
A
G
T
C
T
G
C
T
G
G
C
A
G
G
T
C
C
A
C
G
T
G
G
C
T
C
C
C
C
A
G
A
C
A
C
A
22000 |
var(21972):[C:0.20]
|
var(21984):[A:0.01]
T
C
C
T
G
A
A
T
C
C
G
G
C
C
C
T
C
T
C
T
C
C
C
G
T
T
A
C
A
C
T
A
G
C
A
C
C
T
T
T
G
T
A
G
T
G
C
C
T
G
22050
C
C
A
C
C
C
C
G
T
T
C
T
T
C
C
T
C
C
T
G
T
G
A
C
T
G
C
T
G
C
G
G
C
T
T
C
C
C
A
A
C
CTTAGAGTC
22100 |
var(22069):[G:0.01]
TGTGAGAGGT GCAGCTGCCA GGCAGTCCTG GAAGGGTTCA G
C
CACATCCC
22150 |
var(22142):[T:0.01]
GTCACCTTGC TGTCCTGACC CCTCACATTC GGGCAGAGCC CTCAAGACGG
22200
TCGGGGAAGC CCTGCCTGGG GCAGCAGTGG GCTGGAGAGG TGGCTGGGTT
22250
CTGCATCCTA CATTCTTGAT TCTTCCTG
G
C CTGGGTGTGG CGAGGAGCTG
22300 |
var(22279):[A:0.02]
GCACC
G
CCTC CCTTCCCTCT GTGTCCTTTT CCCTTGCCAC CCTGGCCATC
22350 |
var(22306):[A:0.01]
TGTGGACGTC CACAGTCCTC TGCCTCGCCT GAC
G
CTTAGC CTGCGGCACC
22400 |
var(22384):[A:0.01]
GGCTCCCGCT TCCCTAGTCT GCAGTCTGCA TCTTGTGGCA CCTTCCCCGG
22450
C
C
CTGCCTCC ACTGCCTGCC TTCCCTGGTG TTCTGGCACT GGTGGTCA
C
T
22500 |
var(22452):[G:0.01]
|
REPEAT
A
C
C
A
G
G
T
T
G
T
C
A
G
C
T
C
C
A
G
G
A
G
G
G
C
A
G
G
G
C
C
T
C
T
G
C
C
CAG CTCCTGGGTG
22550
GCTCAGTGTG TGGGAACGTG TAGGTGCCTG AGTGACCTTC CTGTGTGTCA
22600
CTGGCCCTCG CCTGTCTTCC TCGCAGCTTC GGCCCTTTCA GATGCGTGTG
22650
CTG
C
GCAGCT AGACCCAGCT CCTGGCACCT TGGCCTGGTG GGCTTGTGCC
22700 |
var(22654):[T:0.20]
TCAGGCCTTT GCTGGCTTCC TGGTGCTGGA GGCAGAGGCC AGCTGCCCGC
22750
ATGCTATCTC CCGTGCGTGT TCCCTACCTC TTCACACCTC CCACCTGCAA
22800
TGAGGATGGG GCTGGGACTG GCAAGACTCA GCCTGGACCG CGTTGGGCT
T
22850 |
var(22850):[G:0.01]
GGTCATCAGA TCGAGCGTGG CCTGCTTTCT
C
GGTTAGGAG CTGGTGTGTG
22900 |
var(22881):[T:0.01]
TGGCAGGGAC CCGCTGGC
G
C AGAGCAGGGA CTGTGCACTT GGCTGTTTCA
22950 |
var(22919):[A:0.02]
GGGGGCAGAT CGGGGAGCCT GGTGGTGGCA AGGCATCCAC ACAGAGACCC
23000
CCATGGCAGA GCATCCCCTC AGCTCAGTGT GCGGTGAAGA GAGTGGAGAC
23050
GAGGACACAC TGATCTGATC TCCTCCTGCC CTCCCACCTG TGGGAGCCCT
23100
GAGAGCTATC TGCAGAGGGC GGCCCCCAGG ACCAGCATGC GGACACCAAG
23150
CCAGCGCTAC ATCGCCTTGT GTCCCCGGGT GAAGCTGTGG CTGCCCAAAT
23200
GTCCCACGCG AGTTCTACTG ACGCTTCCTC CTTTCGTTGC TAG
A
G
C
T
G
C
C
23250 | Exon 5
S C 124
A
C
G
A
A
G
G
C
C
G
C
T
G
C
C
C
G
C
T
C
A
T
G
C
T
G
A
C
C
G
A
A
T
G
T
C
C
C
G
C
G
T
G
C
A
A
A
G
G
C
23300
H E G R C P L M L T E C P A C K G 141
C
T
G
G
T
C
C
G
C
C
T
T
G
G
T
G
A
A
A
A
G
G
A
G
C
G
C
C
A
C
C
T
G
G
A
G
C
A
C
G
A
G
T
G
C
C
C
G
G
A
23350
L V R L G E K E R H L E H E C P E 158
G
A
G
A
A
G
C
C
T
G
A
G
C
T
G
C
C
G
G
C
A
T
T
G
C
C
G
G
G
C
A
C
C
C
T
G
C
T
G
C
G
G
A
G
C
A
G
A
C
G
23400
R S L S C R H C R A P C C G A D 174
T
G
A
A
G
GTGCG TGGGGTGGAG CAGCAGCCTG TGTGGCTGCA GCCATGCGGG
23450
V K 176
GCTGAGCTGG GGAGCTGCGT GCTGGCCACT GCGGCTGCGT CGGCCCCTTT
23500
GCACTCGTTC CACCCCCTCG GCCCTTTCCC TGGAGACACG CGGGCGGATG
23550
TTTCTTGGCA GAACTGGGAA TGGGTGTGAA GTTAATGCCG AGGCCTTTCA
23600
AAAGCATTTT TGTA
A
G
C
C
G
G
G
C
A
C
G
G
C
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
G
23650 |
REPEAT
C
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
G
G
G
C
G
G
A
T
C
A
C
G
A
G
G
T
C
C
G
G
A
G
T
T
G
A
A
G
A
C
C
A
G
23700 |
var(23671):[T:0.04]
C
C
T
G
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
G
C
A
A
A
A
A
G
T
T
A
G
23750
C
C
A
G
G
A
G
T
G
G
C
C
A
G
G
T
G
C
G
G
C
G
G
T
T
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
23800 |
REPEAT
G
A
G
G
C
C
G
A
G
G
C
G
G
G
C
A
G
A
T
C
A
C
G
A
G
G
T
C
A
G
G
A
G
C
T
C
G
A
G
A
C
C
A
T
C
C
T
G
G
C
23850
T
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
A
A
A
A
C
A
A
A
A
T
T
A
G
C
T
23900 |
var(23866):[T:0.01]
G
G
G
C
A
T
G
G
T
G
G
C
G
G
G
C
G
C
C
T
G
C
A
G
T
C
C
C
A
G
C
T
A
C
T
C
A
G
G
A
G
G
C
T
A
A
G
G
C
G
23950
G
G
A
G
A
A
T
G
G
C
G
T
G
A
A
C
C
C
A
G
G
A
G
G
C
G
G
A
G
C
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
T
G
C
24000 |
var(23992):[G:0.01]
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
C
A
G
G
C
G
A
C
A
G
A
G
C
G
A
G
A
T
T
C
C
G
T
C
T
C
G
G
A
A
A
A
A
24050 |
var(24038):[T:0.01]
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
C
C
A
G
G
C
A
C
G
G
T
G
G
C
G
A
G
T
G
C
C
T
G
T
A
A
T
T
C
C
A
G
C
T
24100 |
REPEAT
A
C
T
C
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
T
G
C
T
T
G
A
A
C
C
C
A
G
G
A
G
G
C
A
G
A
G
G
T
T
24150
G
C
A
G
C
G
A
G
C
C
A
A
G
A
C
T
G
C
A
C
C
A
C
T
G
C
A
C
A
C
T
A
G
C
C
T
G
G
G
C
A
A
C
A
G
A
G
C
A
A
24200 |
var(24198):[G:0.18]
G
A
C
T
C
T
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
A
A
A
A
A
A
A
T
T
T
T
T
A
A
A
A
A
A
A
GTTT
24250
GTTTTTAGGA CAAAAAAGCA TTTTTGTCTT AGAAAAGTCT AAATGCATCA
24300
GGTAGAGAGT GCGGTGGTGG GTGTGCGTCC GTCCTCGCCA GGCCTGGGCT
24350
TTGC
C
CTCAA GACAGTTGCT CAAGTCTGAC TTCGCCTTCC CCAAAGCGTT
24400 |
var(24355):[T:0.18]
GGTGAGAAT
G
C
A
T
T
T
C
T
G
C
G
G
T
G
C
A
C
A
G
A
G
C
T
A
G
T
C
G
C
T
A GCGCCATGTC
24450 |
var(24410):[:0.19]
TGAGATGCAG CTGTGACTGC TCACATGGCC TGCAGCCTGT GTCTGCGTCC
24500
CTGTTGTCTG TCTTTGCCTT GGTGTATCTG AATCACGATC CATACAGGGT
24550
TCCTGCCTTT GGTGGAAATG TCTCTGGGTC TCTCTCTGCC TCT
G
GGGCCC
24600 |
var(24594):[A:0.01]
ATGGCATCTT TTTTCCTGGG CTCTTGTCCT TCAGGAGCCC CACTTCCCTG
24650
AGACCCATCT GCACTTCCCT GTAAACTGTC AGATGGACGG GCCTGACCAT
24700
AGCACATCT
A
GGGTGCCAAG CCCTCCGCAG CAGCATGTCA GGGTCTGTCT
24750 |
var(24710):[G:0.26]
TGGAGACGTC CCGCATGCCG CCAGCCCTGC CCATCCGCCA GGCCCTCCCA
24800
CCGGCCTCGC CTCCCAGCGG GAGCAGCGTT TCCCCATCTT CACCGGGGCC
24850
GTTGTTTCAC GTGGCTTCCA AATCTCCTCT GGTGGCTTGG GTCTCCCTCG
24900
CATTGCCCTG AGCTGGCAGA ACAAACAAAG CGTTAAGATC TCCGAGGCTC
24950
CTGGGTGGTG CTGGCAGGAT CCTGCCCGGG AGGAGCACTG TCCTTCGAGG
25000
CTGGAGGGTG ACCACGTGCT CCTGC
A
GCCC CTCGGCGC
T
G CCCAGCCTGA
25050 |
var(25026):[G:0.26]
|
var(25039):[C:0.02]
GCACTGTGTG CCGCCCTCCA CC
C
GCGCCTG GCATTGGCGT CCACCCT
T
AC
25100 |
var(25073):[T:0.01]
|
var(25098):[C:0.26]
ACTCCTGATC CCTTCTTTTG AAG
G
C
G
C
A
C
C
A
C
G
A
G
G
T
C
T
G
C
C
C
C
A
A
G
T
T
C
25150 | Exon 6
A H H E V C P K F 185
C
C
C
T
T
A
A
C
T
T
G
T
G
A
C
G
G
C
T
G
C
G
G
C
A
A
G
A
A
G
A
A
G
A
T
C
C
C
C
C
G
G
G
A
G
A
A
G
GT
25200 |
var(25165):[T:0.03]
P L T C D G C G K K K I P R E K 201
GAGTGTCCTT CACCTCCTTG GAGGACCGCA GGGCGGGGCC CATGTGTTGG
25250
ACGTGAGGGT CC
C
GTGGGTG GGGGTGGGGC AGGTTATGAC CCTTGTGCCC
25300 |
var(25263):[T:0.02]
AAAGGAACAG CAGTGCAAAG CCCCTGTAAC GTTGGGTCAT GGATGCGTTC
25350
AGGGTGGCGG CCGCTCTCCT GA
G
TGGGCCG GGGGCCAGGT GGCTGAGTCC
25400 |
var(25373):[C:0.01]
CGAGCCCTCT TCCTCATCCT CCAGTGTACA
C
AGCTGCTTA CTTTTCAGCA
25450 |
var(25431):[T:0.18]
GGTCACTTCC TAGTTAT
C
CT GAAAATGAAA CATTAAAGTT CTCATCGCCC
25500 |
var(25468):[T:0.02]
TCCATGTGCT GCTTATGAGA AATGTTGTTA CTGACTTTGA AGCTGAATGT
25550
TTGCAGCAAG CGGTTGGGGT GGAGACTGGG
C
GCCCTAGTC TGGTCTGCTG
25600 |
var(25581):[T:0.02]
CCACAGCCGT GAAATGTGGG TGGCTCGCCT GGCAGAACTT TGTCCCTGGT
25650
GTCCTTACTT CTTTCAGGAA AATGGTTTCT CTCCCAGTTG AGAGTTAACT
25700
GCTGCAGATG ACACCTTTAG GAAAGGAAGC TGGGAAATAA TACGCATGGA
25750
AACATTTTCC CAAACTGCCT CCCTTGTTGG AGGTGTGAGG GTAGCTCATC
25800
CAGAGAGGCT GAAGCTCTGG AAGGGGCACC TGCTCTGTGT GTCAGAGGTC
25850
CAATGTGGAG GCCTCACAGG TGGCAGCCCC CATCTGGGCA GCTACAGGAG
25900
GGGTCAGGCT GGCCAGGCC
C
GCCCGCGGGC TCAGCCTGAC AGGTGTGTGC
25950 |
var(25920):[T:0.18]
CTGTCTTTCT GATTTGCTTC TGTTTAAATA TAGGTCACAG CCCAAGTCCT
26000
GAAATGGGTA GGGCTGGGGG ACGGGACAGG GCTGTCTCCT
C
ACCTCTTTC
26050 |
var(26041):[T:0.02]
CACTTGTCTG TTAAATGTCC CGCACTGTGA GCTTGGCCGA GTGCTGTCTG
26100
AAAGCATCCT TTCCCTTCAC CTGGAGACTG GAGCGCCATA GAGGCTATGG
26150
CTGCTGCCAT GCCCCCTTCA GAGGCCAGGA CGCCTGCCTG GGGCCCGTGT
26200
CTGTGAGGCT GTGTCCCCTG CTGGTGGGGC CTGGAGGTGC CCCCGAGAGG
26250
TGCCCTCTGC GTGTGCCCCA GTCTGTGTCA GCCCTTGTCT GTCCTGAGGG
26300
GGTTGTACAG AGGAGTTAGG AGGTGATTCT TTCCTTGAGA CTGTTTCCAG
26350
AGTGAAAGAC GAAGACGGGC GCCCACGCAG CGCGGTGGTG TCTGGTGGGT
26400
TTTGTCCCCA CCCATCACTG TGAACACGGG GCTTTCTCTG TGCATGGTGC
26450
ATTTTCATCC TTCCCG
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
G
A
G
A
C
A
G
A
G
T
T
26500 |
REPEAT
T
C
G
C
T
C
T
T
G
T
T
G
C
C
C
A
G
G
A
G
T
G
C
A
A
T
G
G
T
G
T
G
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
A
C
26550
C
T
C
T
G
C
C
T
C
C
T
G
G
G
T
T
C
A
G
G
T
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
T
T
C
C
C
G
A
G
T
A
G
C
26600
T
G
G
G
A
T
T
G
C
A
G
G
T
A
T
G
C
A
C
C
A
C
C
A
C
A
C
C
C
A
G
C
T
A
A
T
T
T
T
G
T
A
T
T
T
T
C
A
G
T
26650
A
G
A
G
A
T
G
G
G
G
T
T
T
C
T
C
C
A
T
G
T
T
G
G
T
C
A
G
T
C
T
G
G
T
T
C
T
T
G
A
A
C
T
C
C
C
A
A
C
T
26700
T
T
A
G
G
T
G
A
T
C
C
A
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
26750
G
A
G
C
C
A
C
T
G
C
C
C
C
A
G
C
C
CAT TGCATCTTTA TTTTGATGTT CACAGGGCCT
26800
CATCTTCAGA CTGAGGGGCC TTTCAGGCTC TCTGAGAATG AATCTCTTGG
26850
GCCCCGCCTG CTTCCTCAGG GCAGTCCTGT CTAGGCATGG AACTCTGGCC
26900
CTTCAATGCA GGCCGACATA TAGGGGCTGC ATGTATGTGC AGGGTGTCCT
26950
GGGGCTGTCT GTGCCCCCTG GCCCGTTCCA GAGGAGAATG CTGAGAGTGC
27000
TCTCAGGTGT TTCTAATGTG TGTGGCGTGC TTGGGATTTT C
T
C
T
T
A
T
C
T
C
27050 |
REPEAT
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
T
G
G
A
G
T
C
T
C
G
C
T
C
T
G
T
C
A
C
C
C
A
G
G
C
27100 |
NOT SCANNED
T
G
G
A
G
G
G
C
A
G
T
G
G
C
G
A
G
A
T
C
T
C
G
G
T
T
C
A
C
T
G
C
A
A
G
C
T
C
C
G
C
C
T
C
C
T
G
G
G
T
27150
T
C
A
C
G
C
C
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
G
A
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
G
C
27200
C
T
G
C
C
A
C
C
A
T
G
C
C
C
G
G
C
T
A
A
T
T
T
T
G
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
C
A
G
A
T
G
G
G
27250
G
T
T
T
C
A
C
C
G
T
G
T
T
G
A
C
C
A
G
G
A
T
G
G
T
G
T
C
G
A
T
C
T
C
C
T
G
A
C
C
T
C
G
T
G
A
T
C
T
G
27300
C
C
C
A
C
C
T
C
G
G
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
C
C
A
C
T
G
C
G
T
C
27350
T
G
G
C
C
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
G
A
G
A
C
A
G
A
G
T
C
T
C
A
C
T
27400 |
REPEAT
C
T
G
T
C
G
T
C
A
G
G
C
T
G
G
A
A
G
T
G
C
A
G
T
G
G
C
G
C
A
A
T
C
T
C
G
G
C
T
C
A
T
T
G
C
A
A
C
T
T
27450
C
T
G
C
C
T
C
C
T
G
G
G
T
T
C
A
A
G
C
A
G
T
T
C
T
C
T
G
C
C
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
T
C
T
G
G
27500
G
A
T
T
A
C
T
G
G
C
A
C
C
T
G
C
C
A
C
T
C
C
A
C
C
T
A
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
27550
A
G
A
C
A
G
G
G
T
T
T
C
A
C
C
A
T
C
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
G
A
C
C
T
G
G
27600
T
G
G
T
C
C
A
C
C
C
A
T
C
T
C
G
G
C
C
T
C
C
C
A
A
A
G
T
A
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
C
C
27650
A
C
T
G
T
G
C
C
T
G
G
C
C
TCTCTTA TCTTTTTTTA GTGTTGCAAA TCTTGGTTCC
27700
TAACACTGGT AACGTATTTG TTTTATGTTA TATATAGAGT AGGTTTAAAA
27750
TTAAAAATAC CT
G
C
T
G
A
G
C
A
T
G
G
T
G
G
C
T
C
A
C
T
C
C
T
G
T
A
A
T
A
C
C
A
G
C
A
T
T
T
27800 |
REPEAT
|
var(27763):[A:0.18]
T
A
G
G
A
G
G
C
T
G
A
G
G
C
G
G
G
A
G
G
A
T
C
A
C
T
T
G
A
G
G
C
C
A
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
G
27850
G
C
C
A
A
C
G
T
G
G
T
G
A
A
A
C
T
C
C
G
T
C
T
C
T
A
C
T
G
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
T
G
G
G
27900 |
var(27858):[C:0.02]
C
A
T
G
G
T
G
G
T
G
C
A
C
A
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
C
C
T
T
G
A
G
A
G
G
C
T
G
A
G
G
T
G
C
G
A
27950
A
A
A
T
T
G
C
T
T
G
A
A
C
C
C
A
G
G
A
G
G
T
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
T
G
A
G
A
T
C
G
C
A
C
C
28000 |
var(27956):[:0.80]
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
G
A
G
T
G
A
G
A
G
C
C
T
G
T
C
T
A
A
A
A
A
A
A
C
A
A
G
28050
TCAA
G
G
C
C
A
G
T
T
G
T
G
G
T
G
G
C
T
C
A
C
A
T
C
T
G
C
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
A
G
28100 |
REPEAT
C
C
A
A
G
G
C
A
G
G
T
G
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
G
A
G
A
T
C
A
A
A
A
C
C
A
G
C
C
T
G
T
C
C
A
28150
A
C
A
T
G
G
C
A
A
A
A
C
C
C
C
T
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
C
A
G
G
T
G
T
G
28200
G
T
G
G
C
A
C
A
G
G
C
A
C
T
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
A
A
G
C
T
G
A
G
A
C
A
G
G
A
28250
G
A
A
T
C
G
C
C
T
G
A
A
C
C
C
G
G
G
A
G
G
C
A
C
A
G
G
T
T
G
C
A
G
T
C
G
C
A
G
T
G
A
G
C
C
A
A
G
A
T
28300
C
G
C
G
C
C
A
G
T
G
C
G
C
T
C
C
A
G
C
C
T
G
G
G
C
C
A
C
A
G
A
G
T
G
A
A
A
C
T
C
C
A
T
C
T
C
A
A
A
A
28350 |
NOT SCANNED
A
A
A
A
A
C
A
A
T
A
A
A
C
A
A
A
A
A
C
C
A
G
C
A
A
C
A
T
G
G
C
T
T
C
T
G
A
T
G
A
T
G
A
G
G
C
C
A
C
T
28400
G
A
T
G
A
T
G
A
G
G
C
C
A
C
C
T
G
T
T
T
C
T
T
C
G
A
A
G
C
T
C
T
T
T
T
T
G
T
T
C
T
T
G
G
A
A
G
T
A
C
28450
A
T
C
T
T
A
T
G
A
A
G
A
T
G
T
G
G
G
G
T
C
C
A
C
A
T
A
C
C
A
T
G
T
T
C
T
T
A
T
T
A
T
A
A
A
G
G
A
A
T
28500 |
REPEAT
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
T
G
G
A
G
T
C
T
C
T
C
T
G
C
C
G
C
C
C
A
G
G
C
T
G
28550
G
A
G
T
G
C
A
G
T
G
G
C
G
C
A
A
T
C
T
C
G
G
T
T
C
A
C
T
G
C
A
A
C
C
T
C
T
G
C
C
T
C
C
T
G
G
A
T
T
C
28600
A
A
G
T
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
G
T
C
C
C
T
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
C
C
C
28650
A
C
C
A
C
C
A
T
G
C
C
C
G
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
G
A
C
G
G
G
G
T
T
T
C
A
28700
C
T
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
C
A
A
A
C
T
C
C
T
G
A
C
C
T
C
G
T
G
A
T
C
C
A
C
C
T
G
C
C
28750
T
C
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
A
G
T
G
T
G
A
G
C
C
A
C
C
G
T
G
C
C
C
G
G
C
T
28800
ACATACTATG TTCTGAGGTG AACTGGAATA CATTTTTTCT TTGAGTTTAT
28850
GTCAGCTGTG GTATATAGTT CATTTGCTTC AGGTTCTTTT AAAATGTGAG
28900
GGTTTTTTTT AAAGATTTGC TTTTGTTCTT TGACGATGTA AACTATTGGC
28950
CTGCTGTCTT ATCAGTCAGA GCTGTGCAGA GGCACAGGCC CCATCTCATC
29000
CTCCCAGCCC CTCCTCTCCA TCTTTGCTGG TTTTGCTGGA GCCTTTCT
C
G
29050 |
var(29049):[T:0.05]
GTGACCATGC TCCCAGGGCT TGGTCGGGTT CCTCACCACT GCCTGGGACA
29100
TGTGCAGGGC TGAGCCGAGC ATGGGGCGGC GTATGTTGGG ACCTGGTCCT
29150
TTGGAGGCTG ACCTGTGGGG CTCGCTGGAT AGGAGAAGTG GGCCTGGGCC
29200
TCATGGCCAA ACAGCCCAGA AGCCTTGGCA GTGACGGACA CCTCGTGTTT
29250
GATAAGGTGT TTGCCCCTTC ATGGTGATGC TGGCAGGAA
C
CACAGACGGG
29300 |
var(29290):[T:0.02]
CAGTGTTTAG TGTTTCCTGG GGGCCTGGGG GTTGCCCTCC TGCCCTCACA
29350
GGAACCCTAG GGCACCC
T
T
T
A
T
C
A
G
A
T
G
A
G
G
A
A
A
T
T
G
A
G
G
C
T
T
A
C
A
G
A
G
G
29400 |
REPEAT
|
var(29391):[T:0.17]
C
C
A
G
G
C
G
C
C
C
A
G
C
T
G
G
C
T
T
C
C
A
G
T
T
C
C
A
T
G
G
A
C
G
G
C
C
C
T
G
C
C
G
T
G
G
G
C
A
G
29450
C
C
T
G
G
G
G
G
A
C
T
T
G
T
C
T
C
C
T
C
G
C
T
T
C
C
A
G
C
A
G
T
G
C
C
T
T
C
T
C
C
C
A
C
A
C
C
T
A
C
29500
C
C
T
A
C
C
TGGG CGATCGCACC CCCCATTCCC AGCATGCTGC GCA
C
ATGCCA
29550 |
var(29544):[G:0.01]
GGTTCCTGGC CTCTTCTCCT TCAGCTTCCT GTGGTGGAAA TTTCTGAGCC
29600
TGGACAGATG AGAGAGAGCA CATTAGAACT TGGGGCCCTG CTGTGGCTCA
29650
AGATGGGGGG TGCCCAGTGA CAGTTCTGTT TCATTCCTGC CTCCACTTCT
29700
TCCCGCAGCC CAGTGTTTCA TCCGAAAATA CTTCAGTGAC AGCAGAGGGA
29750
TCCTTGCTTT ATTTTAAGAG AAAATACATT GTGGGTTCAC ACGGATGTTT
29800
GCATTTCAGA TTCTTACCCA ACTTCCATGT TGCTGTCTCC TTTCTACAGA
29850
AAGTCGTGGT TCCTGTTGAC ATTGCTATAC ATAAGAACGG TGTCAGTAGC
29900
ACTGAGTCTG ATCCATGGCA AATTATGTGA TGAC
G
AAGTT CTCTTTCTAG
29950 |
var(29935):[A:0.01]
TTCTCTTTGC TTTTAGAGTC TGTATTGAGT TGCTGTGTCA TAAGTCATTC
30000
GAAGCAGC
G
T CTCTGGGCAG GCGGCTGTCT CAGTATTCCA CGGAGGCCCA
30050 |
var(30009):[A:0.01]
TTTGTTTCAT TTTGCTTTTG AGTTTTAAAG ATTGCCCTTT AAAAAAAAAA
30100
A
G
G
C
C
G
G
G
T
G
C
G
G
T
G
G
C
T
C
A
T
G
C
C
T
G
T
T
A
T
C
C
C
A
G
C
A
C
T
T
T
G
A
A
A
G
G
C
G
G
30150 |
REPEAT
|
var(30147):[A:0.02]
A
G
G
C
G
A
G
C
G
G
A
T
C
A
C
C
T
G
A
G
C
T
C
A
G
G
A
G
T
T
T
G
A
G
A
C
C
T
G
C
C
T
G
A
C
C
A
A
A
A
30200
T
G
C
A
G
A
A
A
C
C
C
C
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
T
T
A
G
C
C
G
G
G
T
G
T
G
G
T
A
G
30250
C
G
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
C
A
C
T
30300
T
G
A
A
C
C
T
G
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
G
G
T
G
A
G
C
T
G
A
A
A
T
C
A
T
G
C
C
A
T
T
G
T
A
C
T
30350 |
var(30324):[A:0.04]
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
A
G
A
G
A
G
A
A
A
C
T
C
C
G
T
C
T
C
A
A
A
A
A
A
A
A
GTTTTGTAA
30400
TTTTGTAAAA TGGTTACATG GCACCAAAGC GAAAACTACA AAAAAGGTGC
30450
ATTCTGAGAC
G
TCAGAGGGA AATGTGTCAG GCTCCCCGTC CGCAGCGCCG
30500 |
var(30461):[A:0.01]
TGCGGTCGTT CAGA
A
A
T
T
T
G
C
A
T
T
C
C
C
A
T
A
A
G
C
A
T
T
G
T
G
G
G
A
G
C
A
C
C
G
T
C
30550 |
REPEAT
T
C
C
C
G
A
G
A
C
T
T
G
C
C
A
G
C
A
C
A
G
T
G
T
G
G
T
G
T
G
A
A
G
G
T
T
G
G
A
C
G
T
G
C
C
A
C
T
G
T
30600
G
A
T
G
T
G
T
G
A
G
A
A
A
CACA
T
C
A
G
T
C
C
T
C
T
G
T
A
T
C
G
G
G
G
G
T
C
C
A
C
G
C
C
G
T
G
G
A
30650 |
REPEAT
T
C
C
A
G
C
C
A
A
C
C
G
T
A
G
G
T
T
G
G
A
A
A
T
G
T
T
C
A
G
G
T
A
A
A
A
A
TGC ACTGAACACG
30700
C
GCGGACATT TTT
T
A
T
T
G
A
C
A
C
A
G
C
G
T
T
C
A
C
G
T
T
G
T
A
T
T
G
G
T
C
A
T
G
A
G
T
C
30750 |
var(30701):[T:0.01]
|
REPEAT
A
C
C
G
A
G
A
G
C
T
G
A
T
T
T
C
A
G
G
T
A
T
G
A
G
G
G
A
G
G
G
T
G
T
G
C
T
T
A
G
G
C
T
C
T
G
T
G
C
A
30800
A
A
C
A
C
T
C
T
G
C
C
A
T
C
T
T
C
C
A
T
C
A
G
G
G
A
C
T
C
G
A
G
C
A
T
C
C
T
T
G
G
G
T
T
T
C
A
G
G
G
30850
A
C
C
C
T
G
A
G
A
C
C
A
A
C
C
T
C
C
T
A
T
G
G
G
T
G
G
C
A
A
G
G
G
A
C
AGCAG AGCCT
C
GAGG
30900 |
var(30896):[G:0.02]
CGGTTCTGAC GGGCGTTTCC CAAGCTGTGG TGTGACCGAG CCCATCTGTG
30950
CTTCTCTTGC TGTTCATGAC TCCTGCCCAC TGAATAGTGT TTTTGGTTTT
31000
TGTTTGTTTT GGGGGAAATT GTTCAAGGTT CTTATGTGAC TGTTTCTGGA
31050
AACTGATTCA CAGTTACGGC CGTTTCCCTC CTTCCGGGTA TGAAATCTTG
31100
TGCTGCGTCT GGCATGTGTG GGTTTGGTTT TCTCACACTC AGAGCCGCGA
31150
CACACCTGCC ATGTCACCTG GGAAATGGAG GAGG
G
ACT
T
G GGGTTCATGT
31200 |
var(31185):[A:0.19]
|
var(31189):[C:0.02]
TTTTCCTCGG GCTGTTCCTG CATCCATAGA CCCATGTCAG ATACCACAGT
31250
GTTAGTCTCT GTTTCTTCCC TGGTTCGATG TTCCTGTTGT ATGTGAGTGT
31300
CTGTGTGCAC TTGGCCCCTT TCTGGATTTT ACGTTTTGCT TCATGT
T
GTG
31350 |
var(31347):[C:0.19]
TCTGTGTCAT CCTGTACCAC CACGCACCGG GTGAGCAGTG GGCGTTTGAT
31400
TCT
A
GGTTTT GAACCCAGGC CCTGAGGCCT CAGCACCGCA TGTCCTGTGG
31450 |
var(31404):[G:0.20]
ACTGTGATAG AGGGACAGGC GTGCCATGTG ACACACAAGC TGGGGTCTCC
31500
ACAGGTGTCC CGAAATGCTT GCCCATCTCA GTTACTGGCA CAGTGTGCAT
31550
GTTTGCACGT GTGTGTGCAC AGGTGTGTGA GCGTGTCGCT TTGGAAATGG
31600
GCTGTTGGGT TTCATTCAGT GTGAGAGTGA AGAGGCCAAC GGGGCAGGTC
31650
ATGTAACCTC TGTGTCAGTC AGTGTGGTCC ATGTGGAAGT GCTGAAATGC
31700
ATCAGAACAG AGAAAGATGG CTCTGTGACG TCACTCCCTT GTAG
T
T
T
C
A
G
31750 | Exon 7
F Q 203
G
A
C
C
A
C
G
T
C
A
A
G
A
C
T
T
G
T
G
G
C
A
A
G
T
G
T
C
G
A
G
T
C
C
C
T
T
G
C
A
G
A
T
T
C
C
A
C
G
C
31800
D H V K T C G K C R V P C R F H A 220
C
A
T
C
G
G
C
T
G
C
C
T
C
G
A
G
A
C
G
G TGAGTCGGGG GGTCTGAGGT TGGGGGCCAC
31850
I G C L E T 226
CCCTCATCCT GGGTGTGGTC TTCACTG
C
CT CCAGCCCAGT GCTTCCTGGT
31900 |
var(31878):[:0.02]
TTCCTTCCAG CTGCTCCTCA GCCACCTCTG CAGCACTGCC TCCTCCTGCC
31950
CCGGCTGTCC GAGTGTTCCC AGCTTGGTCT CTGGGCTGGC AGCCCTGTCC
32000
ACTCCCTCCT GGTGGCATTG TAGTG
C
CTGG CTTTGACTGC CACCTGTCTC
32050 |
var(32026):[:0.01]
TGAGGATGCC CAGTGTGTGT GCCCACCTGT CGCCTTGAGC CTCCCTGGGT
32100
GTTGAGTGCA CGTCTCAGAT GTACCCGGCC GGCTCGCCAC GACCACTCCT
32150
TGGC
C
GCTGT CTCCCTGCCC CCATCTCACA CAGAAAAGGG CAGCACTCTA
32200 |
var(32155):[T:0.02]
ACCCAGCGGC TGTCGCTGAG CCCTC
C
GCCA CCA
A
CAGGCA CTCGGGCCCC
32250 |
var(32226):[T:0.01]
|
var(32234):[G:0.25]
TCCTCTCGCC TCATGCTTCA CGTTCGGGCT GACAGAGGTC TCGTCTACCC
32300
TCAAATGGTC CCCCCAGCCG TCACTGCCCT GTCCAC
G
TCA TCCTCATCTC
32350 |
var(32337):[A:0.17]
TCACTGGGAC CCAGGCTCAG GCGCTTATGG GACCCCCGTT CTTTTCCGTT
32400
CTGGCCTGTT CACAGATGGA AATCGATCAC AGCTCTTCCT CATGGCTTCT
32450
CATTCAGAGT GGCCTGCTCC TGTGATCTTT CCCTCCCCTC AGCTATCTCC
32500
TCTGCCCTGC TCGCTGGCCT GAGCTTCCTT GGGCATGCCC ACTTGTGCCC
32550
ACCCCAGGCA CTTGGGCACT GGCACAATGG CCAGGCGCCT GGGTCTCTCC
32600
AGGTGGACCC CCCTGCTCCA CCCCTGCAGA CTCTGCCCCT CTGTCGCCAG
32650
CACCTCGTGT CTTTGTCTCT TGTCCGTCTT GCCCTGTACA ACAGGA
G
CCC
32700 |
var(32697):[A:0.02]
CTTGAGGTCA GGACCCTCGA GGAGTACTGG GCCCAGAGGT GG
C
CCCCAGC
32750 |
var(32743):[T:0.17]
TGAGGTGTGT GCCTGATGGA TGGAGAGGGG CAGGCCGTGG GTGCAGACCC
32800
TCCCCTGGCC AGCTCACTGG GCGGGCACCT TCCTTGCTTG AAGACAGGGA
32850
TGTCTTGACG GCATTTGTGG TAG
A
G
TCAGT TGCTGACTTG ATTCTATGTG
32900 |
var(32874):[:0.02]
GCCTTAGGTA TTGTGTTTTT TTCCTAATGG TGAAAAGGAG CGTGGCTGCT
32950
TCCATTTTCT TTGTCTGCGT TGGATAGTCT TCTGCTGTCC GTGTTCTTGT
33000
CTGTTTCCTG CTCTGACGTG GCATCTGCCA TCTCTAGGAA GCCCAGGCTT
33050
CCCGTGCGGG AGGTTGCGTA GTGACCACCC GGGCCTCAGT GGTGCTTGCT
33100
GCCGC
C
ACCG TGCTCCTTGT TTCTGGGCCT CTTGGTGTTG AGAAATGAGA
33150 |
var(33106):[T:0.05]
GAGAACACAG CGTGAGTCTG TGGCGATGCT CGCTTCCCGT TTGCACAAAG
33200
GATCTCCC
C
G TGCTGGCACA CCCACCCCAG GCTCAGCCAG GGCCTGCTTT
33250 |
var(33209):[T:0.11]
TTCCACGCCG CGCACAGCAT GGTCCCAACA GCAGCACTCT CTGAGAAAAT
33300
GCAGGGCGAG CTCTCGTCCA GCTGTTTGTG TCTTGAGTGC CCTTCTGCTC
33350
TCTGGGTGGT CATGCCTCTA GCTGGGTACA CATGTAGGTC CAT
T
T
G
T
T
T
C
33400 |
NOT SCANNED
T
T
T
T
A
C
T
G
T
A
A
T
T
T
T
T
T
T
A
G
A
G
T
G
T
T
T
T
G
T
T
T
A
T
A
T
A
T
A
T
A
T
A
T
A
T
A
T
A
T
33450
A
T
A
T
A
T
A
T
A
T
A
T
T
T
A
T
T
T
A
A
T
T
A
A
T
T
A
A
T
T
T
A
T
T
T
A
T
T
T
T
T
G
A
G
G
T
T
G
A
G
33500 |
REPEAT
T
C
T
T
G
C
T
T
T
G
T
C
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
T
G
A
T
C
T
C
A
G
C
T
C
A
C
T
33550
G
C
A
A
C
C
T
C
T
G
C
C
T
C
C
C
G
G
G
T
T
C
A
A
A
C
A
A
T
T
C
T
T
G
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
33600
G
T
A
G
G
T
G
A
T
A
A
A
A
G
G
C
C
C
A
A
G
T
A
G
C
T
G
T
G
A
T
C
A
C
A
G
C
T
G
T
G
T
G
C
C
A
C
C
A
C
33650
A
C
C
C
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
A
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
C
33700
C
C
A
G
G
C
T
G
G
T
C
T
C
G
A
A
C
T
T
C
T
G
A
C
C
T
C
A
A
G
T
G
A
T
C
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
33750
C
C
T
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
A
C
C
G
C
G
C
C
T
G
G
C
C
T
C
A
T
T
T
T
C
A
A
A
33800
T
T
T
T
G
T
T
G
T
G
G
A
A
A
T
T
T
G
A
A
A
A
T
A
A
T
T
T
A
A
T
T
G
C
A
A
A
G
T
C
A
A
GTCTATAA
33850
AATGAGGTAT GTTTAAGGAG GCCTAGCTTC CAGCCCTGTG TTTTCACCTT
33900
CCCCTGTGGG TGGC
T
T
T
T
T
A
T
T
T
C
T
T
A
T
T
T
T
A
T
T
T
T
G
T
T
T
T
A
T
T
T
C
A
T
T
T
33950 |
REPEAT
T
A
T
T
T
T
T
G
A
G
A
C
A
G
A
G
T
C
T
T
G
C
T
C
T
G
T
C
A
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
34000
G
C
C
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
G
C
C
T
C
C
A
C
C
T
C
C
T
G
G
G
T
T
C
A
A
G
T
A
C
T
C
T
C
C
T
34050
G
C
C
T
C
A
G
C
C
T
T
C
C
G
G
G
A
A
G
C
T
G
G
G
A
T
T
A
C
A
A
G
C
A
C
A
C
A
C
C
A
C
C
A
G
G
C
C
C
A
34100
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
T
A
G
G
G
T
T
T
T
G
C
C
A
T
G
T
T
G
A
C
C
A
G
G
34150
C
T
A
G
T
C
T
C
A
A
A
C
T
C
C
T
G
A
C
C
T
C
A
G
G
T
G
A
T
C
C
G
C
C
C
A
C
T
T
C
A
G
C
C
T
C
C
C
A
A
34200
A
G
T
A
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
T
G
A
G
C
C
A
C
T
G
C
A
C
C
T
G
G
C
C
TA TTTTAA
T
A
T
T
34250 |
REPEAT
T
A
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
T
C
G
A
A
A
C
A
G
A
G
T
C
T
C
G
C
T
C
T
G
34300
T
T
G
G
C
C
A
G
G
C
T
G
G
A
A
G
T
G
C
A
G
T
G
G
C
A
C
C
A
T
C
T
C
A
G
C
T
C
A
C
T
A
C
A
G
C
C
T
C
C
34350
C
T
C
T
C
C
T
G
G
G
T
T
C
A
A
A
C
T
A
T
T
C
T
C
A
T
G
C
C
T
C
A
G
T
C
T
C
C
C
G
A
G
T
A
G
C
T
G
G
A
34400
A
T
T
A
C
A
G
A
C
A
T
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
G
T
A
G
C
T
T
T
A
C
T
A
G
A
34450
G
A
C
A
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
C
C
C
A
G
G
C
T
T
C
T
C
T
G
G
A
A
C
T
T GTGGGTGGC
T
34500 |
REPEAT
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
A
G
A
G
T
T
T
C
G
C
T
C
T
T
G
T
T
G
C
C
C
A
G
A
C
T
34550
A
G
A
G
T
A
C
A
G
T
G
G
C
G
C
G
A
T
C
T
C
G
G
C
T
C
A
C
C
A
C
A
A
C
C
T
C
C
A
C
C
T
C
C
C
G
G
G
T
T
34600
C
A
A
A
C
A
G
T
T
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
C
A
C
34650
C
A
C
C
A
C
G
C
C
C
T
G
C
T
A
A
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
A
G
G
G
T
T
T
C
T
C
C
A
T
34700
G
T
T
G
G
T
C
A
G
G
C
T
A
G
T
C
T
C
G
A
A
C
T
C
C
C
G
A
C
C
T
C
A
G
G
T
G
A
T
C
C
T
C
C
C
A
C
C
T
T
34750
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
G
G
A
G
C
C
A
C
C
A
T
G
C
C
C
A
G
T
C
AT
34800
GAGTAGCTTT TTTAAAATGG TGTGTTGCTT TTATTTTTCT TTTCTCTTCC
34850
TTTCTGTCCC TCCCCCTCCT TCTTTCCCTC CCCTTCTTCC CTTC
G
T
C
C
C
G
34900 |
var(34895):[:0.18]
T
C
T
T
C
C
C
T
T
C
ATCCCTTCAT CTCGTCCTGT CCCGTCCC
T
T
T
T
T
T
C
T
T
T
T
C
34950 |
REPEAT
T
T
C
C
A
A
A
C
A
G
G
G
T
T
T
T
G
C
T
G
T
G
T
C
A
G
C
C
A
G
G
C
A
G
G
G
A
T
G
C
A
G
T
G
G
T
A
T
G
A
35000
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
G
C
G
T
C
A
A
C
C
T
C
C
T
G
G
G
C
T
C
A
A
G
T
G
A
T
C
C
T
C
C
C
A
C
C
35050
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
A
A
C
C
A
C
T
G
G
C
A
C
A
C
A
C
C
A
C
C
A
T
G
C
C
C
A
G
C
T
35100
A
A
T
T
T
T
T
A
A
A
A
A
T
T
T
T
T
T
G
T
A
G
A
C
G
T
G
G
G
G
T
T
T
T
G
C
C
A
T
G
T
T
G
C
C
C
C
A
G
C
35150
T
A
G
T
C
T
C
C
A
A
C
T
C
C
T
G
G
G
C
C
C
A
A
A
T
G
A
T
C
C
T
C
C
C
G
C
T
T
T
G
G
C
C
T
T
C
T
G
A
A
35200
G
T
G
C
T
G
G
A
A
T
C
A
C
A
G
T
T
G
C
T
A
G
C
T
A
C
T
G
T
G
C
C
T
G
G
C
T
GCA ACTAAGTTCT
35250
ATAGCTTCAC GTT
C
TTTAAA CACACCTGAC TTTCAGTCTG TCATACACAA
35300 |
var(35264):[T:0.01]
GAAGGATCAG CCATGACCAG GCCACCCAGG CATCCCTATC TATGACCCTG
35350
GCCTGTCTCC TCAGCTCAGC TGAGGCCCAC GTCTTGGTGG CCGTCCCCGG
35400
GTGGGAGCCG AATGGTGGAT GGA
G
CCAGCA GCCTCCCTGC CCTGTGTCCG
35450 |
var(35424):[T:0.01]
CAG
G
T
A
G
A
G
G
G
T
G
A
G
A
A
A
C
A
G
C
A
G
G
A
G
C
A
C
G
A
G
G
T
G
C
A
G
T
G
G
C
T
G
C
G
G
G
A
35500 | Exon 8
V E G E K Q Q E H E V Q W L R E 242
G
C
A
C
C
T
G
G
C
C
A
T
G
C
T
A
C
T
G
A
G
C
T
C
G
G
T
G
C
T
G
G
A
G
G
C
A
A
A
G
C
C
C
C
T
C
T
T
G
G
35550
H L A M L L S S V L E A K P L L 258
G
A
G
A
C
C
A
G
A
G
C
C
A
C
G
C
G
G
G
G
T
C
A
G
A
G
C
T
C
C
T
G
C
A
G
A
G
G
T
G
C
G
A
G
A
G
C
C
T
G
35600
G D Q S H A G S E L L Q R C E S L 275
G
A
G
A
A
G
A
A
G
A
C
G
G
C
C
A
C
T
T
T
T
G
A
G
A
A
C
A
T
T
G
T
C
T
G
C
G
T
C
C
T
G
A
A
C
C
G
G
G
A
35650
E K K T A T F E N I V C V L N R E 292
G
G
T
G
G
A
G
A
G
G
G
T
G
G
C
C
A
T
G
A
C
T
G
C
C
G
A
G
G
C
C
T
G
C
A
G
C
C
G
G
C
A
G
C
A
C
C
G
G
C
35700 |
var(35699):[T:0.01]
V E R V A M T A E A C S R Q H R 308
T
G
G
A
C
C
A
A
G
A
C
A
A
G
A
T
T
G
A
A
G
C
C
C
T
G
A
G
T
A
G
C
A
A
G
GTTTG TGCCTGCCGG
35750
L D Q D K I E A L S S K 320
GTGGCCAGCC ATGAGGAGGA CAGTGTAAAG GGGGATAGTG TTCGTGCCCC
35800
AGCAGGTTCT AGCAGGTCCT
A
GAGCTTTAG AGCCCGGACA ATGTAGAACT
35850 |
var(35821):[G:0.44]
CCATCTGCAA ACCCCAGTCC AGTGTGGTTT AGGGGAGGCT CTGGCCCCCT
35900
TCATTTCTGA GTCCTGTCAT CTAAGG
G
ACC CAAACCCTGG AAGGTCCTAG
35950 |
var(35927):[A:0.05]
AGGCCAGGC
C
GTGGGCAGGA GCCTCTTCTC TCTGATGGGA GGGCAGAGTC
36000 |
var(35960):[G:0.01]
AGCCATGGAT GGGGATGTGC ATGGCCTGGT GTGGCTTCTG AGCACGCTTG
36050
CTGGCCCGGA GCTTCTGTGT GGACTTGGAG CCACCACCTC TTGGCGAGGG
36100
TGGGGTTGGG TTCTTGTGTG CAGGGAGTGG ACATGAGAAA CATGGAGCCC
36150
AGGGGTGCCC AAGAGCACTG TCCTGCTGGA GATC
G
GTGGG TGTGGGAGGC
36200 |
var(36185):[A:0.05]
AGGGGCTCGT GCCCGCACCC CTCCTGTAAG AGGGAAGGTG GTCTTGGCAC
36250
CCGGCAG
G
T
G
C
A
G
C
A
G
C
T
G
G
A
G
A
G
G
A
G
C
A
T
T
G
G
C
C
T
C
A
A
G
G
A
C
C
T
G
G
C
G
A
36300 | Exon 9
V Q Q L E R S I G L K D L A 334
T
G
G
C
T
G
A
C
T
T
G
G
A
G
C
A
G
A
A
G
G
T
C
T
T
G
G
A
G
A
T
G
G
A
G
G
C
A
T
C
C
A
C
C
T
A
C
G
A
T
36350
M A D L E Q K V L E M E A S T Y D 351
G
G
G
G
T
C
T
T
C
A
T
C
T
G
G
A
A
G
A
T
C
T
C
A
G
A
C
T
T
C
G
C
C
A
G
G
A
A
G
C
G
C
C
A
G
G
A
A
G
C
36400 |
var(36380):[T:0.03]
G V F I W K I S D F A R K R Q E A 368
T
G
T
G
G
C
T
G
G
C
C
G
C
A
T
A
C
C
C
G
C
C
A
T
C
T
T
C
T
C
C
C
C
A
G
GTGTG GTTCTAGGAC
36450
V A G R I P A I F S P 379
CCCCACCTCA CTGCAGCTGC TGTTTACTTG GCACCTGGGT CCCCTCACCC
36500
CTGTGACCAC ATAGGATGGC TCCCAAGGGT GGGGCTGGGA TACGACCCCC
36550
AGTGATACCG GGAGCAGCTA CACCTCCCTG AGTGGCAAGT GGGGTAGCTG
36600
AATATGGGCT GGCCGGTGGG TGCCCTCGGG CAGGGGTCGG GGTAGGGGGG
36650
TTGGGCCGGC TGCCCTCCTG CCGTGCCAGC CCTCGAGGTG TGCCCCTCGT
36700
CACCCACAGC CTGGTCCTCT GGCACAC
G
GC
C
CTAAAGCAG ACATTACATC
36750 |
var(36728):[C:0.02]
|
var(36731):[T:0.04]
AACAGGCTCT CCTGCCTGAT CACAGCTCCC AGGAAGACAG GGCGGGTGGG
36800
GGTGGCTGTG GGGGTGGGAC ATGGCTCTCA GGGCCTTGGA GCTGAGCTAG
36850
TCTGATCCCT CCCAGGTTCA TTTTCCACAC GGAGCTCAGG GAGGGTGTTT
36900
CTCACACTCC CCCACCTTTT TTTTTTT
T
AA ACCCCAACTA TGGGGTCTCT
36950 |
var(36928):[A:0.04]
TGAGAGGGTG CT
C
GTGGGGT CTCCCCTGGA GGGCACTGCT GGAGAGGGGG
37000 |
var(36963):[T:0.01]
T
G
GGGTGGTG GCTGCCCAGC TGCAGGCTCC TGCCAGGACT GTGCT
T
CTGG
37050 |
var(37002):[A:0.03]
|
var(37046):[C:0.01]
GCGCTGCAGT CCAGAGGCGG CCCCCCTGCT GTCCCT
C
GAG GCCCTGGCTG
37100 |
var(37087):[T:0.02]
ACCTTGTGGC GGCCCCAGCC ATCATCTCGG CCCCAACTCA GTCACTCCCT
37150
TCTTGGGCTT TGTTGCCATG GCTCAGAACA CGCCCTCGTG CAGACTTTAT
37200
TTTTAGGCTG AGTTGGTGAA CCTGCTGATA GAATCTTAGG TTCTAGGATC
37250
AAGGCCGAGA TGCTGTAGGC ACCTTTCCTG TTTGAATTTA GCCTGGCACT
37300
GCTCGTGAAA CTCAGCACTG GGGGCCATGG CAGTCCTGTG CTCTGGCGCC
37350
CTCGAGGCGG AAAGAGACCC AAGCGTCATC TGGAGGGGCC GCCACATTGT
37400
GTGGTGCCTG CTGCCAAG
G
C CTTCAGCAGG GACCAGAAAC AAAACTCACA
37450 |
var(37419):[T:0.04]
CTCTTTCTTC TCTGAGTTGA GACTGGAAAA ATGAAAGATT GTTTTAGGGG
37500
AAACTTGAGG GAACAGTCTG GGCAGCCTGC AGGGCATGGC CCTGTTCCTC
37550
CAGGGCTGGG AAAGTCAGCA CTGCTTTCTG GTGGCGACCT TCCCTCTGCA
37600
GCTGCTGGCT CAGCCGATTG TATATGCTGG GAGCTCTGCA C
C
TAAGCG
T
T
37650 |
var(37642):[:0.98]
|
var(37649):[C:0.29]
GGGTGAAGGG TCAGCATTGT GGAGGCCCTG CCACGGAGGT GGTCTTCTTG
37700
GGAGCTGCAC TCAGGCAAGA GGACCTGTTT GTGTGGAACA TCTGCTTTAA
37750
GCAATGCTGG TGAACACAGC TTGTGTGC
A
G CACGCGTGCA GGCTGAGGAC
37800 |
var(37779):[G:0.48]
AGGCAGAATG GGCCTGGGGG CACGGTGGAG GACGAGGATG GGGAGGATGG
37850
GCCTGGGGGC AC
G
GTGGAGG ACGAGGATGG G
G
A
G
G
A
T
G
G
G
CCTGGGGGCG
37900 |
var(37863):[A:0.03]
|
var(37882):[:0.02]
TGTGGAGGAC
G
GGGATGGGG AGGATGGGCC TGGGCACGTG GTGGAGGACG
37950 |
var(37911):[A:0.48]
GGGACGGGGA GGATGGGCCT GGGCATGTGG TGGAGGACTA GGACGGGGGG
38000
AGGATGGGCC TGGGGGCATG TGGAGGACGA GGATGGGGAG GATGGGTCTG
38050
GGGGCACGTG GTGGAGGACG AGGATGGGGA GGA
T
G
G
G
C
C
T
G
G
G
G
G
C
A
C
G
A
38100 |
NOT SCANNED
G
G
T
G
G
A
G
A
G
G
A
C
T
A
G
G
A
C
A
G
G
G
A
G
G
A
T
G
G
G
C
T
T
G
G
G
G
G
C
A
C
G
C
G
G
T
G
G
A
G
38150
G
A
C
G
A
G
G
A
T
G
G
G
G
A
G
G
A
T
G
G
G
C
C
T
G
G
G
G
G
C
A
C
G
C
G
GTGGA GGACGAGGAC
38200
GGAAGGGTGG TCCTGGTGCT GCCACAGTGG GGTCCCTGCG TGCAGACCTT
38250
TGCACACAGT GTTCTGTCAT GTGACTTGGA AAGCAGCCTC TGCCGAGTTC
38300
TGGCTGTCAC TCA
C
GTCTGT GTCTTGTTGG GTGGGAAGGA A
C
TCGACTCT
38350 |
var(38314):[A:0.04]
|
var(38342):[G:0.17]
TCTTGTTTTG GGGTTCACTC TAGCCAGTGC CTCTTCTGAG GCAGGCTTGG
38400
GGCCCAACCT AAGCCCTGGG CCGGTCAGGG CTCCCTCTGT GGCTCTGCCG
38450
AGGTCCCAAC CACTGCATTT AGTGGATCT
C
GCCATGTGGC TCTGCTCATC
38500 |
var(38480):[T:0.01]
TTCTTAAGTT TTGGGGGTTA CATTTGGGAT TCTTAGAAAT GCTTTTTCT
G
38550 |
REPEAT
G
C
T
G
G
G
C
A
C
A
G
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
T
G
A
G
G
C
C
A
A
C
38600
A
C
G
T
G
T
G
G
A
T
C
G
C
C
T
G
A
G
G
G
C
A
G
G
A
G
T
T
T
G
A
G
A
C
C
A
T
C
C
T
G
G
C
C
A
A
C
A
T
G
38650
G
T
A
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
C
A
G
G
T
G
T
G
G
T
G
T
C
38700 |
var(38660):[T:0.04]
G
A
G
C
G
T
C
T
G
T
A
A
T
C
T
C
A
G
C
T
A
C
T
C
A
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
C
G
C
T
T
38750
G
A
T
C
C
C
A
G
G
A
G
G
T
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
T
G
A
G
A
T
T
G
C
G
C
C
A
C
T
G
C
A
C
T
C
38800
A
G
C
C
T
G
G
G
C
A
A
C
A
A
G
A
G
T
G
A
G
A
C
T
C
C
A
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
38850
A
A
A
A
A
A
CTTT TTCTAAGTAC TACCTTTTTT TTTGTAATGA AATTTGTTTT
38900
CATTGGAAAC TAACTGCATA GTTTGAGGGA AAAAAAACTT
T
T
CTTTGCAC
38950 |
var(38941):[:0.78]
CCCAGAACCT GAATGTTTCT TTGTAGGTGT TTTTGT
C
CCT GGGGGAGGGC
39000 |
var(38987):[T:0.01]
AGCCAGGCAG GAAGAGCCCT GCCCCGCCCT TGCTGAGTGT CAGCTCACCA
39050
GGCACCCCTC CTGCCTCCCC AG
C
C
T
T
C
T
A
C
A
C
C
A
G
C
A
G
G
T
A
C
G
G
C
T
A
C
A
A
39100 | Exon 10
A F Y T S R Y G Y K 389
G
A
T
G
T
G
T
C
T
G
C
G
T
A
T
C
T
A
C
C
T
G
A
A
C
G
G
C
G
A
C
G
G
C
A
C
C
G
G
G
C
G
A
G
G
A
A
C
A
C
39150
M C L R I Y L N G D G T G R G T 405
A
C
C
T
G
T
C
C
C
T
C
T
T
C
T
T
T
G
T
G
G
T
G
A
T
G
A
A
G
G
G
C
C
C
G
A
A
T
G
A
C
G
C
C
C
T
G
C
T
G
39200
H L S L F F V V M K G P N D A L L 422
C
G
G
T
G
G
C
C
C
T
T
C
A
A
C
C
A
G
A
A
G
GTGAGGCCG TCCCTGCAGG CTTCGCTAGG
39250
R W P F N Q K 429
GCCGCACCTG GGAGTCCCTC TGGGCAGTGC AGCTTCTGTG GTGCAGGGTT
39300
GTGCGGGACA AGGTGGCTTG GGCTCGCTGG ACCAGGTGTC TGCAGCAGGC
39350
ACGTCACCCT GTGATGCTGT GTCACGCGGT GGAGAGCTCT GGCAGTTTGT
39400
TGTTTCCATG ATTTCTGAGC ACTGGTCCGT GACACAAGCA CCTGGCTTCC
39450
TGACCTGTCA GATAAATATA AATATGACTA AGAAAAAGCA CAAGGCCGAG
39500
TGGGCGGGGA GTATGTATC
C
C
T
G
T
G
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
39550 |
REPEAT
|
var(39539):[C:0.01]
T
G
G
G
A
G
G
A
T
T
G
C
T
T
G
A
A
C
C
C
A
G
G
A
G
T
T
T
G
A
G
A
T
C
A
G
C
C
T
G
G
G
C
A
A
C
A
T
A
G
39600
T
G
A
G
A
A
C
C
C
A
T
G
T
C
T
A
C
A
A
A
A
A
A
A
A
A
T
A
G
A
A
A
A
A
T
T
A
G
C
C
G
G
G
C
A
T
G
G
T
G
39650 |
var(39626):[:0.60]
G
T
G
T
G
C
A
C
C
T
G
T
A
T
T
C
C
C
A
G
C
T
A
T
T
C
G
G
G
A
G
G
C
T
A
A
G
G
C
A
G
G
A
G
C
A
T
T
G
C
39700
T
T
G
A
G
C
C
C
A
G
T
A
G
G
T
T
G
A
G
G
C
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
C
A
C
G
C
T
A
C
T
G
C
A
C
39750 |
var(39741):[A:0.01]
T
G
C
A
G
C
C
T
G
G
G
C
A
A
C
A
G
A
G
C
A
A
G
A
GGGGGC TCTAAATAAA TGAACAAAAG
39800
GACAAAGCAC AAAATAATGC AAGTTTGGGG GTGCCCAGCT TTAGCCCAGG
39850
ACTCCAGATG TTGAT
G
GGCA TCTGGACCAG TAGTTTGAAA ACCCTGCCCT
39900 |
var(39866):[A:0.02]
GGAGAGAGAG TGCAGAGGAA GGAACACAGC TTCGGAGCCC TCTTCGTCGG
39950
AGGTGTCA
T
T
T
A
T
T
T
A
T
T
T
A
C
T
T
A
T
T
G
T
T
A
A
G
A
C
G
G
A
G
T
C
T
T
G
C
T
C
T
G
T
C
40000 |
REPEAT
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
T
G
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
C
C
T
40050 |
var(40001):[T:0.01]
C
C
T
G
G
G
T
T
C
A
A
G
C
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
G
A
C
T
A
40100 |
var(40092):[T:0.03]
C
A
G
G
C
A
T
G
C
A
C
C
A
C
C
A
C
G
C
C
C
A
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
40150 |
var(40117):[T:0.22]
|
var(40122):[G:0.01]
|
var(40124):[G:0.01]
|
var(40149):[A:0.01]
G
G
G
T
T
T
C
T
C
C
A
T
G
T
T
G
G
T
C
A
G
G
C
T
G
G
T
C
T
T
G
A
T
C
T
C
C
T
G
A
C
C
T
T
G
T
G
A
T
C
40200 |
var(40168):[C:0.21]
C
G
C
C
C
A
C
C
T
T
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
G
T
A
G
G
C
G
T
G
A
G
C
C
A
C
T
G
T
40250
G
C
C
T
G
G
C
C
TA TTTTGAAAAT CAGAATCTAT TATTTTGTGG AATTGAAGAT
40300
GCAGAGACTA GACTGGAATG AGAGAAGGTC CCTTCCTTTT GCCACAGTTG
40350
GCCCAGACTT GCTACTTCCC CCACCCCCTA TAGCTAGTGG AGTA
G
GCAGA
40400 |
var(40395):[A:0.02]
GCAGAGTTGG GTGGGGGAG
G
GGGTGTGGAG GGCCCACAGG CCCTTGTCTG
40450 |
var(40420):[A:0.01]
TCCTGGGGCA TCCAGGTTCA CAGTCCTGAC AGAGGCAGAC TCAGGTTCTC
40500
CCTGAAAAGT GCTCTTCACG AGTGGG
C
AGT GGGTGCTTCA TGATCTCTTT
40550 |
var(40527):[:0.01]
GGCAAGAAAA TGTCTTTGCC AGATGTGTTA TTTTTTGCAT TTTCCTAATA
40600
A
T
A
A
T
T
CAAG TTCAGGAGTG GTAAGCTTTA GTCTAGGACT CCAGATGTCA
40650 |
var(40601):[:0.02]
GTGGACAGGA AAGGCCAGAA TGGACACAGA TTCCCCAGAG AGAAGCGGAA
40700
TGCCGGTGGC TGGGGAGGGC TGGGGAGCCC GGGCGCTGTG GCAGGAGCAA
40750
GGC
C
G
C
CCAC CACGTGGTCT CGGCTGGGCC TCAGCCTCTG GCCTGGGTCC
40800 |
var(40754):[T:0.28]
|
var(40756):[T:0.01]
TGGGATGGCC TCCTGCT
G
GT GGCCCTGCCA GTGTCCAGAC CCTCGGGAGC
40850 |
var(40818):[A:0.17]
CAGAGAGAGA CGGCCCACAG ACCTGTGTCC CCTCCCTGGG GCTCTCTCCT
40900
CCAG
G
T
G
A
C
C
T
T
A
A
T
G
C
T
G
C
T
C
G
A
C
C
A
G
A
A
T
A
A
C
C
G
G
G
A
G
C
A
C
G
T
G
A
T
T
G
40950 | Exon 11
V T L M L L D Q N N R E H V I 444
A
C
G
C
C
T
T
C
A
G
G
C
C
C
G
A
C
G
T
G
A
C
T
T
C
A
T
C
C
T
C
T
T
T
T
C
A
G
A
G
G
C
C
A
G
T
C
A
A
C
41000
D A F R P D V T S S S F Q R P V N 461
G
A
C
A
T
G
A
A
C
A
T
C
G
C
A
A
G
C
G
G
C
T
G
C
C
C
C
C
T
C
T
T
C
T
G
C
C
C
C
G
T
C
T
C
C
A
A
G
A
T
41050
D M N I A S G C P L F C P V S K M 478
G
G
A
G
G
C
A
A
A
G
A
A
T
T
C
C
T
A
C
G
T
G
C
G
G
G
A
C
G
A
T
G
C
C
A
T
C
T
T
C
A
T
C
A
A
G
G
C
C
A
41100
E A K N S Y V R D D A I F I K A 494
T
T
G
T
G
G
A
C
C
T
G
A
C
A
G
G
G
C
T
C
T
A
A
C
T
G
C
C
C
C
C
T
A
C
T
G
G
T
G
T
C
T
G
G
G
G
G
T
T
G
41150 |
UTR
|
var(41133):[G:0.05]
I V D L T G L 501
G
G
G
G
C
A
G
C
C
A
G
G
C
A
C
A
G
C
C
G
G
C
T
C
A
C
G
G
A
G
G
G
G
C
C
A
C
C
A
C
A
C
T
G
G
G
C
C
A
G
41200 |
var(41191):[G:0.45]
G
G
T
C
T
C
A
C
T
G
T
A
C
A
A
G
T
G
G
G
C
A
G
G
G
G
C
C
G
C
G
C
T
T
G
G
G
C
G
C
T
T
G
G
G
A
G
G
G
T
41250
G
T
C
G
G
C
C
T
G
C
A
G
C
C
A
A
G
T
T
C
A
C
T
G
T
C
A
C
G
G
G
G
G
A
A
G
G
A
G
C
C
A
C
C
A
G
C
C
A
G
41300
T
C
C
T
C
A
G
A
T
T
T
C
A
G
A
G
A
C
T
G
C
G
G
A
G
G
G
G
C
T
T
G
G
C
A
G
A
C
G
G
T
C
T
T
A
G
C
C
A
A
41350
G
G
G
C
T
G
T
G
G
T
G
G
C
A
T
T
G
G
C
C
G
A
G
G
G
T
C
T
T
C
G
G
G
T
G
C
T
T
C
C
C
A
G
C
A
C
A
A
G
C
41400
T
G
C
C
C
T
T
G
C
T
G
T
C
C
T
G
T
G
C
A
G
T
G
A
A
G
G
G
A
G
A
G
G
C
C
C
T
G
G
G
T
G
G
G
G
G
A
C
A
C
41450
T
C
A
G
A
G
T
G
G
G
A
G
C
A
C
A
T
C
C
C
A
G
C
A
G
T
G
C
C
C
A
T
G
T
A
G
C
A
G
G
A
G
C
A
C
A
G
T
G
G
41500
A
T
G
G
C
C
T
T
G
T
G
T
C
C
C
T
C
G
G
G
C
A
T
G
A
C
A
G
G
C
A
G
A
A
A
C
G
A
G
G
G
C
T
G
C
T
C
C
A
G
41550
G
A
G
A
A
G
G
G
C
C
T
C
C
T
G
C
T
G
G
C
C
A
G
A
G
C
A
A
G
G
A
A
G
G
C
T
G
A
G
C
A
G
C
T
T
G
G
T
T
C
41600
T
C
C
C
C
T
C
T
G
G
C
C
C
C
T
G
G
A
G
A
G
A
A
G
G
G
G
G
A
G
C
A
T
T
C
C
T
A
G
A
C
C
C
C
T
G
G
G
T
G
41650 |
var(41627):[:0.42]
C
T
T
G
T
C
T
G
C
A
C
A
G
A
G
C
T
C
T
G
G
T
C
T
G
T
G
C
C
A
C
C
T
T
G
G
C
C
A
G
G
C
T
G
G
C
T
G
T
G
41700
G
G
A
G
A
G
G
G
T
C
T
G
G
T
C
C
C
A
C
G
C
C
G
C
C
T
C
T
G
C
T
C
A
G
A
C
C
A
C
T
G
T
G
T
G
G
G
A
G
G
41750 |
var(41705):[:0.82]
T
G
C
A
C
A
G
C
A
C
A
G
C
C
T
G
C
G
G
G
T
A
A
A
G
T
G
T
G
A
G
A
G
C
T
T
G
C
C
A
T
C
C
A
G
C
T
C
A
C
41800
G
A
A
G
A
C
A
G
A
G
T
T
A
T
T
A
A
A
C
C
A
T
T
A
C
A
A
A
T
C
T
C
T
G
T
G
G
T
C
A
A
T
G
G
C
A
T
C
C
A
41850 |
var(41824):[:0.84]
|
var(41841):[G:0.21]
TTTGATTCCA GGTTGCCTGC GGCTTCCAGC CTTGGCAGTG GTGACCCTCT
41900
GCGGGTCCTC CTGGCCTCTC CTCTCACAGA CCCCTCCCCA CGGGGTGCCT
41950
AGCCCCTGCC TGCTTCTCTA GCTAGCCAGG CTGTGTTCTC TGTTCCTCAC
42000
CTG
C
TGTAAG CTCCCTCTTC TCGAGCCTTG TTCCCTCTTC TGGAATGTTC
42050 |
var(42004):[A:0.14]
TTCCCTGTCC ATCTCCT
C
TC CTGGGCCTCC CCAGGGACTC CTGTGAGAGC
42100 |
var(42068):[T:0.01]
AGAATGAGGA TGAGCCAGCC CTGGTCCTGC CTTTCTGTGC ACAGGCTCCA
42150
CCGAGCATCC TGGCTGCACC CGGGGGGTCC TGGCCACACC GAGGGTCCTG
42200
GCTGCACCGC CCCTGTGGTG TGTTTTTGGG ACAGTGCAGG CAGGCGTAGG
42250
CACGGCTTCA CACTCGGTGT CAGGGCAGCC GTGCTGGGAC CTA
T
TGGGCA
42300 |
var(42294):[C:0.37]
TCTGTATCGG GGTCCAGGAT AAAGTGCTGT CCCCTCTCGA CGTCTTCA
C
G
42350 |
var(42349):[T:0.01]
CACTGCTGTA GTTTGAGAAG TTGACCACAG AAAAGTACAG AAAATAACTC
42400
AGGCACGGAG CTGACCGACG GGCATTGTCT GTGTTCCGTG AGTGTGTACT
42450
G
GGCCTAAAG AGCAAGCATT GCAGAGCCCT GCTGTTCCCT TTCCCGGCCT
42500 |
var(42451):[T:0.07]
CACCTCAGCT CCCCAGGCCA CGTGGCGGGA ATTGAGGC
G
T TCCGGTTCTC
42550 |
var(42539):[A:0.01]
TTTGGGCTTT AGAATTTTGC ATCTGTAC
G
T TTCTGTATTC ACAAATAAGA
42600 |
var(42579):[A:0.01]
ATATTGCATT AAAAATGCAG AAACCATCCA CTGGGTCAGC TGCAGGTAGC
42650
TGGGCTTTTG ACTCAGCCTG GCTACTTTTA ATGCATCTTG TGCTGGGCAC
42700
TCTACATGGT GGATTCTGAC TGCCGTGTGT GAGTTCCCTA GAGAGCACCT
42750
TCCAGTCTCT TCCCGTGTCT TCAGGGTTTG GTGACTGGAG ATAGCCAGAC
42800
CTGCTCTC
C
T GGGTCTCCTG TCAACCTGGA AGGAGGGTTG G
T
G
G
T
T
T
C
T
A
42850 |
var(42809):[G:0.38]
|
REPEAT
G
G
C
C
T
C
C
C
C
T
T
T
T
T
A
G
C
A
G
T
T
G
C
C
A
G
C
T
T
G
C
T
T
T
G
C
A
G
A
G
G
G
G
C
T
G
C
A
T
C
42900
C
G
G
T
C
C
T
T
C
C
A
C
C
A
G
C
A
C
C
A
G
G
G
G
G
A
G
G
G
T
T
C
C
C
A
T
C
A
C
T
C
C
C
A
T
C
C
C
T
C
42950
C
C
A
T
C
C
C
T
C
C
C
A
T
C
C
C
T
G
C
C
C
G
T
G
C
T
T
C
G
T
G
T
T
G
T
T
G
G
A
A
T
T
G
A
G
A
T
G
C
T
43000 |
var(42959):[:0.96]
G
C
A
G
C
G
T
G
C
T
G
T
G
T
G
T
G
A
A
G
T
G
A
A
G
T
G
G
C
A
T
C
G
C
T
G
T
C
A
C
G
T
G
C
G
T
T
T
C
T
43050
C
T
G
A
T
G
A
C
T
C
G
G
C
G
G
A
G
T
C
A
G
G
C
G
T
C
T
T
T
A
C
C
A
C
G
T
T
T
A
C
C
T
C
T
C
C
C
T
T
G
43100 |
var(43086):[C:0.38]
G
A
T
T
C
T
C
T
C
C
C
G
T
G
C
G
A
A
T
T
G
C
C
T
G
T
T
G
A
T
G
T
C
T
T
T
T
T
C
T
C
A
T
T
T
T
T
C
T
T
43150
C
T
G
G
T
T
G
T
T
G
G
T
C
T
G
G
G
T
C
T
T
A
T
T
C
T
G
C
T
G
G
T
T
G
G
T
A
G
G
A
G
T
T
C
C
T
G
A
T
A
43200 |
var(43158):[:0.01]
T
T
C
C
T
G
A
T
T
A
C
GGATTCTCG GTTGTGTCTT TGAACTGCGT TTCTGTTGCT
43250
CCTGATGTGC AGAAGCTTAA GCCTTACACA TGATCAGCTG ATCTTATCCT
43300
TTATGAATGG TGCTATTTCC GAC
T
GACTCA GAACATCCTG ACCTTCCCTG
43350 |
var(43324):[C:0.39]
AGGCTGGAAA CCACTGTCAT GTTTTCGTCT AATGATTGTG AAGTTTTGTC
43400
TTTAACATAC TGGGCTTCTA TATTTGGGGA TTTGTTTGTA TGTGACAGGT
43450
TTTGCTGGGT CACTGCAGTT TGTTAAAACA GATTGATTGA GGTCATCTCT
43500
TCTCACTTAA AACGAAATGG AACTGTGAAA TGAGAGGAAT GGACCAAAAA
43550
AAAATCCTCC CCCAGGGACA AAGATGGGGA AGAAGCCAAC ATCCCACAAA
43600
GGATTTGAAC CCATTTTGGA AGGTGGGAAG TGGGTTGGTG GGTGGCTGCT
43650
GAGCAGAAGA GGGCTGAGGG GGAAGCTGGC CACACCGGGA GGCCCTGGCA
43700
TGGAGCAGAG TCTAAAAGTG GATCAACTGA AAGACGGGGC AGAGCAGCTA
43750
CCTTGGAGGT CCTTTGCCAG AGCAGCCGGA TGGTCCTCCT GGCCCTCACC
43800
TCCCTGCAGT GGAGATGGAG GTCTGGAGAA CCTG