IL1RN 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
CCTTGTGTGC TGATTGACTT GTAGTCCCCT GGCCCTGACT GGAAGCCTAG
50
TTTTCTCTCT CATGACCAGC TAGGCCCCTA GCTCCCCAGG GAAGAAATCC
100
AATCTATTTC CTCTGATAGT AATGGCTAAT ACTTAAATAA
T
G
C
C
A
A
C
C
A
C
150 |
REPEAT
|
var(150):[T:0.04]
A
T
G
C
C
A
A
G
C
A
C
T
T
T
A
C
A
G
T
T
G
T
T
A
G
C
C
C
A
G
T
C
T
T
C
A
C
A
A
G
C
A
C
C
T
T
G
T
G
A
200
G
G
T
G
G
G
C
A
A
G
A
G
T
C
T
T
A
T
C
T
T
A
C
T
C
T
C
A
T
T
T
T
A
T
A
G
A
T
G
T
G
G
C
C
C
A
G
G
A
T
250
C
C
C
A
C
A
G
C
T
A
T
A
G
T
T
C
A
T
G
G
T
G
C
T
G
G
G
A
T
T
T
G
A
A
C
C
T
C
T
G
G
C
C
A
C
C
A
G
A
G
300
C
C
C
ACCTTAA TGTGTCCTCC TCCTGTTGTC ATAACAGAAA AGTACAACAC
350
CATGATGACA CATCAGGCTA TCCTGGCAGG TTCCCAGGCT GCCCCAATGC
400
CCAACTTTCT AGGTTTACAA A
G
TTGACATT TACGAAGTTT CCAGGTTTAC
450 |
var(422):[A:0.03]
AAATCTAGTT TCTGATTCTT TAGTCAGCAG GAATTTCTCT ACAAAAGCTG
500
CTTCGAAAAT TTCCAGCCAA ACCTTACACA CCTTGGCATT ACATCTTGGT
550
GAGCCAAGG
C
GGAAGAGAAC AGGAAGTGAA GGCCCCATGG GAAGTCCCTG
600 |
var(560):[T:0.01]
CGGTC
G
GGAG CACCCAGGCG GGGCGG
G
GGG TGGGGGGCTT TCCTGTGGCC
650 |
var(606):[C:0.01]
|
var(627):[C:0.01]
GGCTCCCTGC CCCTCCCACC CC
C
ATTCAGG CCCTGTGAGT TGAATGAAGA
700 |
var(673):[A:0.02]
GACCCTGGGA ATGAGTCCAG GTCTGCA
G
GG TTAGAGGAAA TTGAAGGCCC
750 |
var(728):[A:0.03]
TTACCAGATC CCTGTTGAGA AGTTTATGAA TTATGAGCCC TTCTGCAAAT
800
GAGAGGGTTC TTCCCTGTCA GGAGGGACAG ATTGTAGGTG GCAAGATTGG
850
TGGCAGCCAG TAGGCTGGTC TGCTCCTTCC TCTCTATTTC ATATGTGTAT
900
GAAGGCATTA CCTGCAGCAA GGGCCTGTGT AAATGCATGT GATTTACAGA
950
GCATTTTATG TACTGCGTGT CATTCATGCT TCCGGTGAGC CCTAAGTCTA
1000
AGATAGGGCA GATAGCA
T
CA GGTC
C
A
T
T
T
T
G
C
A
G
C
T
G
T
C
A
A
A
A
T
G
A
G
G
T
C
1050 |
var(1018):[C:0.24]
|
REPEAT
T
G
A
A
G
G
G
C
A
G
A
A
G
T
G
G
T
G
T
G
C
C
C
A
C
A
C
A
C
A
C
A
C
A
A
C
T
G
G
T
T
G
G
C
T
G
C
A
G
A
1100 |
var(1063):[A:0.02]
C
C
T
G
G
G
G
A
C
T
A
G
A
C
C
C
G
G
G
A
C
T
T
C
GTCCTG CCCAGGGGTC TCTTGCCACT
1150
GCTCCCCATC AACTTGGATG GCTTTAAGCA TTTGTGAGTT GT
C
TGCTCCC
1200 |
var(1193):[T:0.03]
TGATGGCAGA ATGCAGAGAC ATGAAGCTAC AAGCAGGTTC GCT
C
C
C
AACG
1250 |
var(1244):[A:0.02]
|
var(1245):[T:0.02]
|
var(1246):[:0.02]
GCAAAAAGGA GGAGGGGTGT TCAGAACATC AGGTGCTTCT AGAGAAAGCA
1300
GGGAGAGAGT ATCTGGCCTT GTGGACAATG TCACGGCAGA GG
C
CAGGTAT
1350 |
var(1343):[T:0.01]
AGGGCATGGG GGTAACTGGA AGCGGGATGG A
C
C
C
T
G
T
T
A
T
T
C
C
C
T
A
A
G
A
C
1400 |
REPEAT
A
T
G
G
C
T
T
C
C
A
C
G
T
A
G
T
G
C
T
C
A
A
A
C
A
A
G
G
C
C
T
T
T
G
C
C
C
T
T
G
C
T
G
T
T
C
C
C
T
C
1450
C
A
C
C
T
G
G
A
A
T
A
T
T
C
T
T
C
C
C
C
T
T
C
C
T
T
G
A
C
A
T
T
G
C
T
C
A
G
G
T
C
T
C
C
A
C
T
C
T
T
1500
A
T
G
T
C
A
C
C
C
T
C
T
C
A
G
A
G
A
G
G
G
C
T
T
C
C
C
T
G
G
C
C
A
C
T
T
T
C
C
C
T
A
A
A
A
T
A
G
C
C
1550 |
var(1519):[C:0.11]
A
C
C
C
A
C
T
C
C
T
A
G
G
T
C
C
C
T
C
A
A
A
A
G
C
A
T
A
T
C
C
T
G
C
T
T
T
G
G
A
T
T
T
T
C
C
C
T
A
T
1600
A
G
C
A
A
T
A
T
G
C
C
C
T
A
T
G
A
A
G
T
T
A
T
T
T
T
A
T
T
T
G
C
T
A
A
C
T
T
G
T
T
T
C
T
T
G
T
C
T
G
1650
T
T
T
T
C
C
T
T
T
G
T
T
A
G
A
G
C
G
T
T
G
G
G
G
A
C
C
T
T
G
T
C
T
G
G
C
T
T
G
T
T
C
C
C
A
A
T
G
C
C
1700
T
G
G
A
A
G
A
G
T
G
C
C
T
G
G
C
A
C
A
C
A
G
G
A
T
T
A
A
G
C
C
A
A
C
A
C
A
T
A
T
G
T
T
T
T
G
A
A
T
G
1750
A
A
T
G
TGTGCA CACATGC
A
TG AGCTGGCGGC AGTCGGGGTT GGGGTAAGCA
1800 |
var(1768):[C:0.11]
CGAAGGCCCA GCTCAGTTCT CTGCATGTGA CCTCCCATCT TACGCAGATA
1850
AGAACCAGTT TGGTTTCTGC TAGCCTGAGT CACCCTCCTG GAAACTGGGC
1900
CTGCTTGGCA TCAAGTCAGC CATCAGCCGG CCCATCTCCT CATGCTGGCC
1950
AACCCTCTGT GAGTGTGTGG GAGGGGAG
G
C TGGGCTCCTC CTTGTACTCT
2000 |
var(1979):[A:0.11]
CTGAGGTGCT CTGGAAGGAG GGGCAGCTCC ACCCTGGGAG GGACTGTGGC
2050
CCAGGTACT
G
CCCGGGTGCT ACTTTATGGG CAGCAGCTCA GTTGAGTTAG
2100 |
var(2060):[A:0.11]
AGTCTGGAAG ACCTC
A
G
A
A
G
A
C
C
T
C
C
T
G
T
C
C
T
A
T
G
A
G
G
C
C
C
T
C
C
C
C
A
T
G
G
2150 |
var(2116):[G:0.11]
| Exon 1 |
UTR
|
var(2135):[C:0.11]
M 1
C
T
T
T
A
G
GTAA GCTCCTTCCA CTCTCATTTT T
T
CACCTGAG AAATGAGAGA
2200 |
var(2182):[C:0.11]
A L 3
GGAAAATGTC TACAATTGGT GTTTATCAAA TGCTTTCAGG CTCTGGTGAG
2250
CAAGCGTCCA GGAAAATGTC AAGCGCATGG AGCTCCAGGC CTGTCTGGGG
2300
GAT
C
TGGGCA CGGGGAGGCA TCC
A
TGGGAG ACCATGCAGG CACTCTGAGG
2350 |
var(2304):[G:0.11]
|
var(2324):[G:0.11]
CAGGGGCTGC AAGCCTAGTG CCTGCTGGGG CAGCAGGTGA ACAGAGAGGT
2400
GTAACTGCTG TGACAGAAGT CATGGAGTCC TTGGAGTGTG AG
G
GTCATTT
2450 |
var(2443):[A:0.01]
TCCACTGTTG ATAGAATAGG GAAATTGGTG AAATAGCCCT
G
TTAAATGAG
2500 |
var(2491):[C:0.03]
AGAAAGAACA GTGTGAGCTC AATGAGAAAT ACTAATAGAA TGTGGCACTG
2550
AGCCACAAGG TCTGAGGGTT GATTGATAAG GAAGGG
T
GGG GACTGTGGAG
2600 |
var(2587):[A:0.01]
AATTAAGGGC TTGGCAC
A
G
G
TCAGTTCCA
C
CAGTTGTCAC AAGAGAATGC
2650 |
var(2618):[T:0.11]
|
var(2620):[:0.09]
|
var(2630):[G:0.11]
AGGCTCAGGT GGCCAGAACT TCTCGCTTTT CCAGAAGAGT CCGATATTCT
2700
GATTTCATTA T
A
TATAGTAT TCTGATTAAA C
C
AGACAATA AAGCAAGCAG
2750 |
var(2712):[G:0.11]
|
var(2732):[A:0.11]
ATAAAATATT TAAA
G
TATAA GCTGCCAGTT TGCAACCTCC GGTTAGGATT
2800 |
var(2765):[T:0.38]
TGTGTGGGGC AAAGAAAAAA ACTCTCAGGA TCATTGGTAT GTAGACTCTA
2850
ATTTTAAGTT TCTAATTTAA AATTGGCCCC TGA
G
G
C
T
G
G
G
C
G
T
G
G
T
G
G
C
T
2900 |
REPEAT
C
A
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
T
T
T
T
G
G
G
A
G
G
C
C
A
A
G
G
T
G
G
G
T
G
G
A
T
C
T
C
T
T
G
2950
A
G
G
T
C
A
A
G
A
G
T
T
C
A
A
G
G
C
C
T
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
3000 |
var(2977):[T:0.11]
A
T
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
T
G
G
G
C
A
T
G
G
T
G
G
T
G
C
A
T
G
T
C
T
G
C
A
A
T
C
T
T
3050 |
var(3040):[C:0.11]
|
var(3050):[C:0.11]
A
G
C
T
A
C
T
T
G
G
G
T
A
G
C
T
A
A
G
G
C
A
G
G
A
G
A
A
T
T
G
C
T
G
G
A
A
C
C
C
G
G
G
A
G
G
T
A
G
A
3100 |
var(3091):[A:0.11]
G
G
T
T
G
C
A
G
T
G
A
A
T
G
G
A
G
A
T
C
A
C
A
C
C
A
C
T
G
C
A
C
T
C
C
A
G
T
C
T
G
G
G
C
A
A
T
A
G
A
3150
G
A
G
A
G
A
C
G
C
T
C
T
C
T
C
T
A
A
A
A
A
A
A
A
A
T
A
T
G
T
A
A
A
G
A
T
A
A
A
T
A
A
A
A
TGAAAT
3200
AAAATAGGCC TCTAATGAGC AGGCCATTCT CCTTTCTGGG TCTTACTTTC
3250
CTT
G
CACTCC TTTCTGGGTG TTAAGA
G
GAG GTCTAGAGGA AGCTGGACAA
3300 |
var(3254):[A:0.11]
|
var(3277):[A:0.01]
CTCTTAGCTT GTAGTAAGCA CAGTGGAAGT
A
TCAGCTCTT AATGGGTCAT
3350 |
var(3331):[G:0.42]
GGACACGTTA CAA
G
C
T
A
G
G
C
G
C
C
G
T
G
C
T
G
A
G
C
A
C
T
T
T
A
C
A
T
G
G
T
T
T
A
T
C
C
3400 |
REPEAT
|
var(3374):[T:0.07]
C
A
C
T
G
A
A
C
C
C
T
C
T
C
A
A
T
A
A
C
C
C
T
A
T
G
A
G
G
A
A
G
G
G
C
T
A
T
T
A
T
T
G
C
T
C
A
C
A
T
3450
T
T
T
C
A
G
A
A
G
A
G
G
A
A
A
T
G
G
A
T
A
T
A
G
A
G
A
G
A
T
T
A
G
A
T
A
A
T
T
T
G
C
C
C
A
T
G
G
C
C
3500
A
G
A
C
A
G
C
T
A
G
T
A
T
A
A
G
A
G
G
A
G
G
A
G
G
T
G
G
A
T
T
G
A
C
T
G
C
A
G
A
C
A
T
T
C
T
G
T
C
T
3550
T
C
A
A
A
C
C
A
C
T
A
C
A
C
T
A
T
G
C
T
A
T
GG
A
GGCAC AGAGACTTAA TGAAATCATG
3600 |
var(3571):[G:0.11]
|
var(3575):[G:0.42]
GAGAGGGGAA TTGCTTTGTC AACCACAAGC AGTTATTCCG GGGGCAGCAG
3650
ATCCTCCCCT GTCCCCCAGT GGGTACAATG GTCCCTGGTG GGTTGTGCTA
3700
CAATGTTAGC CCATGGTCTT ATGTGTTTTT CAAATGTGTA AAGTAGGATG
3750
CTGGAACCAC TCTTAGAACC AGATACC
A
AT ACATTGTGAA GAAATAAATC
3800 |
var(3778):[G:0.10]
TCTGTGCTTA AAACTGGTTC ATCCCAAAAT ATTTTGAA
C
T
G
A
C
A
C
A
C
A
A
T
3850 |
REPEAT
A
G
G
T
G
C
T
A
A
A
T
A
A
A
T
G
T
G
T
G
T
T
A
A
C
T
T
G
A
A
T
TGGATTGAA TTCGGGAAAA
3900
AAGTGCAATA AGCTTAGTGA AGACACCATG TTCCCTGGGT AGAGGAACCA
3950
CATTCTCCAT CTAA
G
GCCAG GAGTATGGGA GGTATCAATG TTTGCCCAGC
4000 |
var(3965):[T:0.10]
ACAGAACAGG GTGCCAAGAA GAGAAAAGTT GACGGGGTGC ATACTC
T
GAC
4050 |
var(4047):[G:0.26]
TGGAAACTGG AAGGGTGAGA ACAGAGGGTA AAGGATAGA
G
ATGGAA
C
CAT
4100 |
var(4090):[C:0.10]
|
var(4097):[A:0.02]
GTGCATACAC TT
T
G
T
G
T
T
A
C
C
T
T
G
G
A
C
A
A
G
T
C
A
T
T
C
A
T
T
T
C
T
C
T
G
G
A
C
C
T
4150 |
REPEAT
C
T
G
C
T
T
T
C
T
C
T
C
T
A
C
A
C
A
A
T
G
G
G
G
TCCCAC CACTTCCCTT ACAGCTGACT
4200
TGTATGAAGA AGGAGGTGGA GGAGGAGGAG AAGGTGAAGA CAATGCTGAC
4250
TCAAAGGGTA AATT
A
TTTTT AGGATCCAAG TTTGAAAACA ATTTTAGGCT
4300 |
var(4265):[C:0.10]
ACTAGATATG AACAACATCT TGATTATGTA GTTGAAGGAA ATTAAAGATG
4350
AATGGTTTAA TTAAAAATTA ATCAGAATGA AAACGATTGA TTACTAATAT
4400
ATCTGCAATG GTTTATTTTC CTGAGTGGCA GACTCACTAA GGTTTTTGAA
4450
TACTCCTGTG TGATTGCTC
T
A
T
G
TATGTAT GTATGTATGT ATGTATGTAT
4500 |
var(4470):[:0.99]
GCATGTATCT
T
ATCTATCTG TTGTCTAATA AAATGGATCA CATCTCTGCT
4550 |
var(4511):[:0.97]
AATAAAAACA CTACACTGGC AGGGTACAAT TATAATCATT AACTGTGCCT
4600
GGAATTTGCA GCAGCAGCCA CCAGAGGTAC CAGTGCCCTT TAAGGGTTCA
4650
TAATT
T
A
G
A
A
T
A
A
T
C
C
A
A
T
T
A
T
C
T
G
A
G
T
T
T
T
T
C
A
G
G
G
A
C
T
G
A
G
G
G
G
T
T
T
G
4700 |
REPEAT
G
C
A
A
G
G
T
G
T
A
G
A
A
C
T
T
T
C
A
G
T
A
A
T
A
A
A
G
T
C
A
A
G
A
A
A
G
T
C
C
T
G
G
A
C
A
A
A
C
C
4750
A
A
G
G
T
A
G
T
T
G
G
T
C
A
C
T
C
T
A
G TCCATAACCA GGTAAAGAGC TTTCCCTGTA
4800
ACCTGTGTAA GGTTTTAGAA TCATTTCTTT CCTTATTACC AAAAATCCTC
4850
CCCAAATTTT CAAGAAATTA TGAACTAAAT AGTTACTCTA TGAGATAGGA
4900
GTTCAGCCCA AAAGAAACAC CATAAGAACA AATATAATTC TTGCTTATGT
4950
TAACCATGCA ATGAAGCAGA GAGAAAAAGT CAGTGGCCTC TTTAGGAGGA
5000
CTGTAGTGTG GGAAGAAATA ACTAAA
C
T
G
G
G
T
T
T
C
A
A
T
C
C
T
G
G
C
C
T
G
G
C
C
5050 |
REPEAT
A
G
G
A
T
C
T
G
G
A
G
C
A
A
G
T
G
A
G
T
T
A
A
T
C
T
T
T
C
T
A
A
G
C
C
T
TGAG TAGTTTCTTC
5100
TTCTTCTTCT TCTTCTTCCT CCCCCTTCTC CTCTTCTTCT TCCTCCTCCT
5150
TCTCCTCTTC TTCTTCTTCT TCTTCTTCTT CCTCTTCTTC TTCTTCCTCC
5200
TCCTCCTCCT CCTCTTCTTC TTCCTCTTCC TCTTCCTCTT CCTCTTCTTC
5250
CTCTTCCTCT TATTCTTCTT CGTCGTCTTC GTCTTCTTTT TATTTTC
A
A
A
5300 |
REPEAT
G
T
G
A
A
A
G
C
A
A
G
T
T
T
A
T
T
A
A
G
A
A
A
G
T
A
A
A
G
G
A
A
T
A
A
A
A
G
A
A
T
G
G
C
C
A
C
T
C
C
5350
A
T
A
G
A
C
A
G
A
G
T
A
G
C
C
TGAAC CTTGAGTTCT TCTATAAAGT CACTATGAAT
5400
TTATACTCAT TTTGAAAGTG GGTGTCAATA TGTCTGTCCA CTTTGCACAG
5450
CTGTTATGTG GACAAAAGGA GATCTGTGTG AAAGTGTAAC ACAGAGCCTA
5500
AACTATAACA GGTAAGCAAC ACAGTTGTCC CCTTCCCCAT GGTGTCTGTT
5550
CTTCTCCATT TCCTCCTGTC TGCAGGGGGA TTATAAAACT AATCATCAAA
5600
GCCAAGAAGG CAAGAGCAAG CATGTACCGC TGAAAACACA AGATAACTGC
5650
ATAAGTAATG ACTTTCAGTG CAGATTCATA GCTAACCCAT AAACTGCTGG
5700
GGCAAAAATC ATCTTGGAAG GCTCTGAACC TCAGAAAGGA TTCACAGTAA
5750
GTTAACCATG TAGATCTGAG AGGAGAGTAG CTTCTTGTAG ATAACAGTTG
5800
GATTATATAC CATGTCCTGA TCCCCTTCAT CATCCAGGAG AGCAGAG
G
TG
5850 |
var(5848):[A:0.18]
GTCACCCTGA TAGCAGCAAG CCTGGGGGCT GCAGCTTGGT GGGTAGAGGT
5900
ACTCAGGGGT ACAGATGTCT CCAAACCTGT CCTGCTGCCT TAGGGAGCTT
5950
CTAATAAGTT GATGGATTTG GTTAAAATTA ACTTGGCTAC TTGGCAGGAC
6000
TGGGTCAGTG AGGACCAACA AAAAGAAGAC ATCAGATTAT ACCCTGGGGG
6050
TTTGTATTTC TTGTGTTTCT TTCTCTTCTT TGTACTAAAA TATTTACCCA
6100
TGACTGGGAA AGAGCAACTG GAGTCTTTGT AGCATTATCT TAGCAAAAAT
6150
TTACAAAGTT TGGAAAACAA TATTGCCCAT ATTGTGTGGT GTGTCCTGTG
6200
ACACTCAGGA TTCAAGTGTT GGCCGAAGCC ACTAAATGTG AGATGAAGCC
6250
ATTACAAGGC AGTGTGCACA TCTGTCCACC CAA
G
CTGGAT GCCAACATTT
6300 |
var(6284):[A:0.11]
CACAAATAGT GCTTGCGTGA CACAAATGCA GTTCCAGGAG GCCCAAATGA
6350
AAATGTTTGT ACTGAAATTT GTTAAAGCTT CCCGACAAAC TAGATTTATC
6400
AGTAAGGATT GTTTTCTGCA AGGGGGATGA AACTTGTGGG GTGAGCCATT
6450
TGGGCTGAGG AGGAGGGAGG TTGGAGCTGA GAAATGTGGA GACAATTTCC
6500
CTTTAGAAGG ACTGAATCTC CCTGCCTCTC TGGGGTGCGG
C
A
G
C
C
A
G
C
A
G
6550 |
REPEAT
G
A
T
C
C
A
A
T
G
G
T
G
T
A
T
A
T
G
T
C
T
C
C
C
C
A
G
C
T
C
C
C
C
A
T
T
C
A
G
T
G
A
T
A
T
C
A
T
G
T
6600 |
var(6568):[A:0.01]
|
var(6600):[G:0.20]
C
A
G
T
A
G
C
T
T
G
A
A
A
T
T
A
T
C
C
G
T
G
G
T
G
G
G
A
G
T
A
T
T
A
T
G
T
C
A
T
G
G
A
A
A
T
T
G
G
C
6650 |
var(6620):[A:0.01]
A
A
A
T
G
G
A
A
A
C
T
T
T
T
A
T
T
G
G
A
G
A
T
T
C
A
A
T
T
G
T
T
A
A
A
C
T
T
T
T
A
C
C
A
G
C
A
C
A
A
6700
C
A
C
T
G
CCCTG CCTTCAGAGT CAATGACCCT ATCCAAGTTT AATCCATCTG
6750
TCCACTGTCT CCAACACGAT CTTTATAAAA CACACCTGAC AACATTACCC
6800
TTTTATTCAG TTTTTTAAAA GATAAGTTTC CAGCTCATCG GG
G
TGGCTTT
6850 |
var(6843):[C:0.19]
AAAGGCCATT TCTCCTCTGG ACCTCACCCA ACTTTTCAAA TCACTTTTCC
6900
TACCCCTACC TCTAAATGCT ACTCAAACTC CAGCCATCCT GAATAATAAG
6950
ACTTTTGAAA AGTAGATTAT G
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
T
A
A
T
7000 |
REPEAT
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
A
A
G
A
T
G
G
G
T
G
G
A
T
C
A
C
C
T
G
A
G
G
T
C
G
G
G
A
G
T
T
7050 |
var(7044):[A:0.19]
C
G
A
G
A
C
C
A
G
C
C
T
G
A
C
T
A
A
C
A
T
A
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
7100
A
A
A
T
T
A
G
T
T
G
G
G
G
G
T
G
G
T
G
G
C
A
C
A
A
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
A
G
G
A
G
7150
G
T
T
G
A
G
G
C
A
G
G
G
G
A
A
T
T
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
G
G
T
G
A
G
C
7200 |
var(7194):[A:0.04]
C
T
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
G
G
G
C
A
A
C
A
A
G
A
G
C
G
A
A
A
C
T
C
C
A
T
7250
C
T
C
A
A
A
A
A
A
A
T
A
A
A
T
A
A
A
T
A
A
A
T
A
A
A
GTAG ATTACATCAG ATACCTCTGG
7300
CCTAGGTTGT TTATGACCAA CTCTCCTGCT GAGAATAACT AGAAAAGCTA
7350
GACAAAACAT ATTTCCAAAA GATCTCTTTG GAGGCATCAG AGAATGGCCA
7400
AGGCTGTAAG GAACTGCCTG AGCCCAGAGA GGTGGAGCCC AGCACTGGTG
7450
CCCTTTACTC CTGGGGACAT GTGCTGGTTT CAAAAACTTC AGCTGAG
C
TT
7500 |
var(7498):[T:0.18]
TTGAGCATTC ATGGAACTTG GTGGGGGAGA TGAAATTTGT ACCTTAAATC
7550
CTGCCTACAG GGAGGGTCCC TGATAATCCC CACCCAATTT GGAAATCTGG
7600
G
TCAGCCTTC ACAGGTACTG AAGCCCTCCT CTGAATGATC TCAAGTCCT
G
7650 |
var(7601):[T:0.01]
|
var(7650):[A:0.01]
CTAGGGTAGA GGTTACCTGC TTTTGAAAGG CTCCTGGCCT ACCTGTGCAG
7700
CAGGAGCAAA AGTGAACCAT CTCAGGGTAC AGATAACAAT CATCCAGAGC
7750
CTTGAATGAC CTCTACTGTG CTTAATATAT AGTATTCAGC AGTCAGTAAA
7800
AAGGATTTAG GCACATGCAA GATGACCTGT GTATCAGGGA GAAATAGGCA
7850
ATAAATTGAG ATCCAGCAGG GATTTGAATC ATGGATTTGA ATCAGGGGCA
7900
GCCTT
C
GAAA GAACT
A
TGG
A
G
A
A
T
A
T
A
C
T
C
A
G
A
T
T
T
A
A
A
A
C
A
T
A
A
G
A
T
T
G
7950 |
var(7906):[T:0.01]
|
var(7916):[G:0.06]
|
REPEAT
G
A
A
T
T
T
T
T
G
G
C
A
G
A
G
A
A
C
T
A
A
C
A
A
C
T
G
T
A
C
A
A
A
A
A
A
G
G
A
A
C
C
A
A
A
T
G
G
A
A
8000
A
T
C
C
T
A
G
A
A
C
T
G
A
A
A
G
A
T
G
C
A
A
T
T
A
A
C
C
G
A
T
G
T
T
G
A
G
A
A
A
T
A
G
C
C
A
A
C
A
T
8050 |
REPEAT
C
T
A
T
T
G
A
A
C
A
C
T
T
C
C
C
A
T
G
T
G
G
A
C
A
G
C
T
G
T
G
C
T
A
A
A
C
A
C
T
T
T
A
C
A
G
G
C
A
T
8100
C
A
A
C
ATAAGA TGTGTCCCCT TACAGCAGTG CAGTGTCCCT CCTAAGACAT
8150
GGACAGCCTG GTTTCCCTAT CTCTCTGCTT CATCAAAACC CCTTTACGTG
8200
GGGCTTAGA
C
A
C
T
C
C
T
G
T
T
G
T
C
T
C
T
A
G
T
G
T
C
T
A
G
T
A
G
C
A
C
A
G
G
G
C
T
C
A
G
C
8250 |
REPEAT
A
C
A
T
G
G
A
A
G
C
C
A
C
T
A
G
A
T
A
C
A
A
T
T
T
G
A
T
G
A
CCAGGACCTC CGATGAAAGC
8300
CATGGGTGCT GATTGGGAAG GCATTGTCTT TTATGTGCTA TGGTCTTAAA
8350
GCTTCATCCA GGAAGCAGAA CTCGGGGGGT GCTGAGGACC CAGAACCGAG
8400
AATAAGATTA GTCAGAGATT TCCTGTGGGC AGAAATCATA AGGACGCCAA
8450
CTGTTTGGGT GAGATAAGAC GAAACCAAGA GTGGACTTGT GGCCAGAAGC
8500
GTGAGGAAGA GG
G
AGAGAGC TTCCCTTGTC CCCTTTCTTC CTCTCCCTAA
8550 |
var(8513):[A:0.02]
GCCACAGTGA TTGACAGCCC CCCC
C
C
TTTG GAGTCAGAGC AGGCTTGAGA
8600 |
var(8575):[G:0.01]
|
var(8576):[:0.38]
CTGGACTGGG AAAGGAGGGT GGGTCAGGAT ACAGAGCAGG AAGGCTGGGA
8650
GTGCAGGGCA GGAGCAAGGG GCTGGGGCAT TCATTGTGCC TGATCTCTCC
8700
CACTTTACCT GGGGTAAAGA AGCATATGCA AAAGCCACGG TG
T
G
A
G
T
A
T
T
8750 |
REPEAT
T
C
C
C
A
A
G
T
G
C
C
A
G
G
G
T
C
A
G
G
G
C
A
T
G
A
T
T
C
A
T
C
A
C
G
T
G
C
A
G
C
A
T
T
T
C
A
T
T
C
8800
A
A
T
C
C
T
T
A
T
A
G
T
A
A
C
C
G
A
T
G
A
T
G
T
G
G
C
T
T
C
T
A
T
T
A
T
T
A
G
C
T
C
T
A
T
C
A
G
A
T
8850
A
A
T
G
A
A
A
C
T
G
A
G
A
C
C
A
A
G
A
C
A
G
G
C
T
C
T
G
C
A
C
A
T
T
G
T
G
T
G
G
G
G
T
A
A
T
G
A
C
A
8900
C
A
G
G
G
G
G
A
T
T
C
A
G
A
C
C
T
A
G
A
C
TCCATAACT CCTGCCCCAG GGACCACCCC
8950
CA
C
CCTCACC CTGTGCATGT CGACAAAGGA CAGACTGGGC CACTTCTCAG
9000 |
var(8953):[T:0.01]
GACACAGCGG GGAAATGACA CAGAGCAGGG AGGTTCCAGG AGCCCCGAGC
9050
GTCTTTTCTC CAGGAGAATA CTCTCTGAAT TCAGACTGGG GTCAGAGAAA
9100
CATTTACCCA GGAGCCGCAG TGTGGGTGGG GCTTTTTACT TGAAACGCTG
9150
TCTGAAGGCA GTGGCCAGGA TGGAACTCTC CACCCTACCT TGGCAAGCCA
9200
CTTCTCTTCT GCAATCTGTA AGGACATTGT TGAGAGAATT ATGGTCTTCC
9250
AATTCCGGAG GGTTGAAGAA AGACAAATAG GAGAGAACCT ATCATAGTCA
9300
GGTGCTAGCT GCCTTCTCTT TCAGAGAGTG TGAGAATAAA GTGATACACT
9350
TGATTATTAG CAAATACTTT GGAAATTTTA AACGCTAATA TTCAACACAC
9400
TCTGGAAGAG GCAAATAAGT AGACAGGTTC ATATACATCA TCTCCTTCAG
9450
CTAGTCCTCA CAAAAACAAA CAAATGAATA AACAAAATTC TTCTTTGGCC
9500
CTCATAGGAA GACACTGTTT CTTGAACGTG TTT
C
A
A
A
A
A
G
G
A
T
G
G
G
T
G
A
C
9550 |
REPEAT
T
C
A
C
T
C
A
A
G
G
T
C
A
C
A
C
T
G
T
T
T
A
T
G
A
G
G
A
C
A
G
T
A
C
A
G
G
A
A
T
A
C
A
G
A
C
ATGC
9600
CATTTTGCCT GAAAAAATCC ATCACCCAGG GAGGTGACAC AATTTTGCAG
9650
AAATGTTCTA TTTCCTCTGA AGGATACATT CTTTAAACCT TTGGGAAATT
9700
CATTCATAGT CTTCCTCCTT TGAAGGATTA ACTCTCTGGA CACAAAGTGT
9750
TTGATTCTGA TTTGTTGGTT GGAAGATGTG TTGGTTGAGA GAAAGATTCT
9800
GATTTGTTGG TTGAAAATAG ACTCATCAAG ATCAACTGCT GTAGTAGTAA
9850
ATATTTTGAC ATTTTGTCTG TATTCCTGTG CTGCCCTCAC AAGCTGCATC
9900
ACCTTGAGTG AGTCATTCAT AC
T
T
T
T
T
T
G
T
T
T
G
T
T
T
T
T
G
T
T
T
T
G
G
A
G
A
T
G
9950 |
REPEAT
G
A
G
T
C
T
T
A
C
T
C
T
G
T
T
G
C
C
T
A
G
G
C
T
G
G
A
G
T
G
C
G
G
T
G
G
C
G
T
G
A
T
C
T
T
G
G
C
T
C
10000
A
C
T
G
C
G
A
C
C
T
C
C
A
T
C
T
C
C
T
G
G
G
T
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
C
C
10050
C
G
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
C
A
T
G
C
C
A
C
C
A
T
C
C
C
T
G
C
T
A
A
T
T
T
T
T
G
C
A
10100
T
T
T
T
C
A
G
T
A
G
A
G
A
C
G
G
A
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
T
C
A
G
G
T
T
G
G
T
C
T
T
G
A
A
C
T
10150
C
C
T
G
A
C
C
T
C
A
G
G
T
G
A
T
C
C
G
C
C
C
A
C
C
T
C
A
G
C
C
T
C
C
C
C
A
A
G
T
G
C
T
G
G
G
A
T
T
A
10200
C
A
G
G
T
G
T
G
A
G
C
C
A
C
C
G
T
G
C
C
C
A
G
C
C
CAGCC ATC
A
TTTTTG AAACACGTTT
10250 |
var(10234):[G:0.19]
GAGAAA
T
AGT GTCTTCCTTT GAGGGCCAAG GAGACATTTT TTTTGTTTAT
10300 |
var(10257):[C:0.19]
TTGTTTGTTT TTGTGAGGAC TAGCTGAAGG GGGTGATGTA TATTAACCTG
10350
CCTACTTATT TGCCTCTTCC CAGAGTGTGA TGAATATTAG GGTTTAAAGT
10400
TTCTGA
A
G
C
A
T
T
T
G
T
T
A
A
T
A
A
A
G
C
C
C
G
G
G
G
C
T
G
G
A
G
G
T
C
A
G
A
A
G
A
C
C
T
G
G
10450 |
REPEAT
A
T
T
T
C
T
C
T
G
C
A
T
A
C
T
T
T
T
G
C
C
A
T
C
A
G
C
A
A
G
C
T
G
T
G
T
G
A
C
C
T
T
G
G
A
C
A
G
A
T
10500
C
C
C
T
T
T
T
T
T
G
T
C
T
A
A
A
T
C
T
T
T
C
T
G
A
G
T
C
T
T
C
T
T
G
A
A
A
A
C
A
A
T
G
C
C
A
G
G
T
T
10550
G
G
G
A
C
A
G
G
A
T
G
A
T
T
G
C
C
A
A
G
C
T
C
C
C
G
T
C
C
A
G
C
T
C
T
A
A
AAC ACTGCAACGT
10600
ATGCTTCTGC ACCAGCACTG TCCATCCTGT AGATCATGCA GAAATTCTCT
10650
TCAACTTTTT CCTACCCATA AAATAGGAGC ATGCTTACCT TTTTCCTAAT
10700
GTTCCAGGCC CCGGGTCTAG AATATTGTAA GTAAGGAAGT TAATG
T
GTAT
10750 |
var(10746):[C:0.12]
CA
G
AGCCCAT TATGGGCCAG AAGTTCTCCT CTTCCTTCCT ACACCTGCTT
10800 |
var(10753):[C:0.19]
CCTCCCTCCC TCCCTCCCTC TTTCCCTTCC T
T
C
C
T
T
C
C
A
T
C
C
A
T
T
T
G
T
G
A
10850 |
REPEAT
A
G
A
A
G
A
C
A
T
G
A
T
C
A
C
C
C
T
C
A
T
T
C
T
G
A
G
A
G
T
G
A
A
G
A
G
A
C
A
G
A
G
G
C
T
C
A
A
C
T
10900
A
A
T
G
A
A
A
T
G
A
T
T
T
G
T
T
C
A
A
G
G
T
C
A
C
A
C
G
G
G
T
G
G
C
A
C
A
A
G
G
C
A
A
G
T
G
G
C
A
G
10950
A
G
G
T
T
G
A
A
T
T
T
A
G
A
C
C
C
A
T
T
C
C
T
G
TCCAAA TGCTGAGTTT ATGTCATCGT
11000 |
var(10952):[A:0.31]
CCCGAGACCA TAACTTTAAA GATGTAAGAT AGTGGGAAAA GAGTTGATTT
11050
CAAAGCACCT CTCAGAAGGA CTCACTTTAC AT
C
A
G
G
G
G
T
C
A
G
C
A
G
A
C
T
C
A
11100 |
REPEAT
G
G
C
C
A
A
A
T
C
C
G
G
T
C
C
A
T
T
C
C
C
C
G
C
T
T
T
T
G
C
A
A
A
G
A
A
A
G
T
T
G
T
A
G
T
G
G
A
A
C
11150
A
C
A
G
C
T
A
G
G
C
T
T
A
T
T
G
A
T
T
T
A
T
G
G
A
T
T
G
C
C
A
A
C
G
T
C
C
T
T
T
T
G
T
G
A
A
A
C
A
G
11200
A
C
A
G
C
T
G
A
G
C
T
G
A
G
T
A
A
T
C
G
T
G
G
C
G
C
A
C
A
A
A
A
C
C
T
A
A
A
A
T
A
T
T
T
A
C
T
A
T
C
11250 |
var(11224):[T:0.01]
T
C
G
T
C
C
T
T
T
A
C
A
G
A
A
T
G
T
T
T
G
C
C
A
A
T
C
TAT GGTCCGGAGT CCAAGGCTGT
11300
CCATTTTTCA AAGAACACAA AGTGACATGA GACTGTCCCA
T
GTGCAGGGA
11350 |
var(11341):[G:0.01]
GCCCTATCAT TTTATTATGA AAAAACGGCC TTTCTGCTCA AATCTGTTTT
11400
TTAAAAAGTC AACAAACAGA CTCTGGGTAC CTGTCAGGAA CAGTAGGGAG
11450
TTTGGTTTCC ATTGTGCTCT TCTTCCCAGG AACTCAATGA AGGGGAAATA
11500
GAAATCTTAA TTTTGGGGAA ATTGCACAGG GGAAAAAGGG GAGGGAATCA
11550
GTTACAACAC TCCATTGCGA CACTTAGTGG GGTTGAAAGT GACAACAGCA
11600
AGGGTTTCTC TTTTTGGAAA TGCGAGGAGG GTATTTCCGC TTCT
C
GCAGT
11650 |
var(11645):[T:0.01]
GGGGCAGGGT GGCAGACGCC TAGCTTGGGT
G
AGTGACTAT TTCTTTATAA
11700 |
var(11681):[A:0.01]
ACCACAACTC TGGGCCCGCA ATGGCAGTCC ACTGCCTTGC TGCAGTCACA
11750
GAATGGAAAT CTGCAGAGGC CTCCGCAGTC ACCTAATCAC TCTCCTCCTC
11800
TTCCTGTTCC ATTCAG
A
G
A
C
G
A
T
C
T
G
C
C
G
A
C
C
C
T
C
T
G
G
G
A
G
A
A
A
A
T
C
C
A
G
11850 | Exon 2
E T I C R P S G R K S S 15
C
A
A
G
A
T
G
C
A
A
G
C
C
T
T
C
A
G
GT AA
G
GCTACCC CAAGGAGGAG AAGGTGAGGG
11900 |
var(11873):[A:0.01]
K M Q A F R 21
TGGATCAGCT GGAGACTGGA AACATATCAC AGCTGCCAGG GGCTGCCAGG
11950
CCCCAGAGGG CCTGAGAACT GGGTTTGGGC TGGAGAGGAT GTCCATTATT
12000
CAAGAAAGAG GCTGTTACAT GCATGGGCTT CAGGACTTGT GTTTCAAAAT
12050
ATCCCAGATG TGGATAGTGC GACCGGAGGG CTGTCTTACT TTCCCAGAGA
12100
CTCAGGAACC CAGTGAGTAA TAGATGCATG CCAAG
G
AGTG G
G
ACTGCGAT
12150 |
var(12136):[T:0.01]
|
var(12142):[A:0.03]
TCAGGCCTAG TTGAATGTGC TGACAGAGAA GCAGAGAGGG GCACCAGGGG
12200
CACAGCCCGA AGGCCCAGAC TGATATGGGC AA
G
GCCTGTC TGTGCTGACA
12250 |
var(12233):[A:0.01]
TGTCGGAGGG TCCCACTCTC CAGGGACCTT GGTTTCCCCG TCTGTGA
C
A
T
12300 |
REPEAT
C
T
G
T
G
A
C
A
T
G
A
G
A
G
T
C
A
C
G
A
T
A
A
C
T
C
C
T
T
G
T
G
T
G
C
C
T
T
A
C
A
G
G
G
T
T
G
T
T
G
12350 |
var(12319):[A:0.07]
T
G
A
A
A
A
T
T
A
A
A
T
G
C
A
C
A
G
A
T
A
A
T
A
G
C
G
T
A
A
C
A
G
T
A
T
T
C
C
G
T
G
C
A
T
T
G
T
A
A
12400 |
var(12377):[A:0.12]
AGAGCCTGAA AACCATTATG ATTTGAAAAT GGAATC
A
G
GG CTTTGTGAGA
12450 |
var(12437):[:0.88]
CCATCACTAT TGTAAAGATG TGATGCTGAT AGAAATGACA GGACTGCTTG
12500
TGCATGC
C
CT CTGCAGTGTG ACATTCCAGC AGTGAAATCA TGTTGGGGTG
12550 |
var(12508):[T:0.01]
ACTTCTCCCC CACTCTGACC TTTATGTTTG TCTGGGCCGA GGCTGCAAGT
12600
C
G
GGCTCTGT GGGTGTATGA GTGACAAGTC TCTCCCTTCC AGATATGGGG
12650 |
var(12602):[A:0.15]
ACTGTCTGCT TCCCTAGGTT GCCTCTCCCT GCTCTGATCA GCTA
G
AAGCT
12700 |
var(12695):[T:0.04]
CCAGGAGATC CTCCTGGAGG CCCCAGCAGG TGATGTTTAT CCCTCCAGAC
12750
TGAGGCTAAA TCTAGAAACT AGGATAATCA CAAACAGGCC AATGCTGCCA
12800
TATGCAAAGC ACTTTGGTTT GCCTGGCCAC CCCTCGTCGA GCATGTGGGC
12850
T
C
T
T
C
A
G
A
G
C
C
A
C
C
T
G
A
T
G
A
G
G
T
G
G
G
T
A
C
A
G
T
T
A
G
C
C
A
C
A
C
T
T
C
A
C
A
G
G
T
12900 |
REPEAT
G
A
A
G
A
G
G
T
G
A
G
G
C
A
C
A
G
GTC CCAGGTCAGG CTGGCC
G
GAG CTCTGTTTAT
12950 |
var(12903):[G:0.38]
|
var(12937):[A:0.18]
TACGTCTCAC AGCTTTGAGT CCTGCTCTCA ACCAGAGAGG CCCTTTACCA
13000
AGAAGAAAGG ATTGGGACCC AGAATC
A
GGT CACTGGCTGA GGTAGAGAGG
13050 |
var(13027):[T:0.04]
AAGCC
G
GGTT GTTCCCAAGG GTAGCTGCTC CTGCAGGACT CTGAGCAGGT
13100 |
var(13056):[A:0.12]
CACCAGCTAA TGGAGGAAAG GCTCTAGGGA AAGACCCTTC TGGTCTCAGA
13150
CTCAGAGCGA GTTAGCTGCA AGGTGTTCCG TCTCTTGAAA CTTCTACCTA
13200
GGTGC
T
A
T
G
G
T
A
G
C
C
A
C
T
A
G
T
C
T
C
A
G
G
T
G
G
C
T
A
T
T
T
A
A
A
T
T
T
A
T
A
C
T
T
A
A
13250 |
REPEAT
A
T
G
A
A
T
G
A
A
A
A
T
A
G
A
A
G
A
A
A
A
T
T
T
A
A
A
A
T
C
C
A
G
A
C
C
C
T
T
G
G
T
C
A
C
A
C
T
A
T
13300
C
C
A
C
A
T
T
T
A
A
A
G
A
G
G
T
C
A
A
T
A
G
C
C
A
C
A
T
G
T
G
G
T
T
A
G
T
G
G
C
C
A
C
C
C
T
A
T
T
G
13350 |
var(13328):[C:0.31]
G
G
C
A
G
T
G
C
A
G
C
T
A
C
A
G
A
A
C
A
T
T
T
T
T
G
C
A
T
C
C
C
A
G
A
A
A
G
T
T
C
T
T
T
T
G
G
A
T
G
13400
T
T
G
C
T
G
CTCT ACAGCATGCT TTGCTGAAAC AGAAGTGCCT TCCCTGGGAA
13450
TCTCAGATGG GAAGCA
A
G
T
A
A
G
G
A
G
G
G
G
A
G
T
C
A
A
A
T
G
T
G
G
G
C
T
C
A
C
T
G
C
T
13500 |
REPEAT
C
A
C
C
A
G
C
T
G
T
G
A
G
G
G
T
T
G
G
G
C
C
T
G
C
C
T
C
T
T
A
A
C
C
A
T
T
G
T
C
A
G
C
C
T
C
A
G
T
C
13550
T
T
C
T
C
A
T
C
C
A
T
G
C
A
T
G
C
C
G
T
G
G
G
T
A
T
A
C
T
A
A
A
A
T
A
C
T
A
T
A
C
C
C
C
T
G
G
A
A
G
13600
A
G
C
T
G
G
A
T
G
C
A
A
A
T
T
T
G
A
C
A
A
G
T
T
C
T
G
G
G
G
G
A
C
A
C
A
G
G
A
A
G
G
T
G
C
C
A
A
G
C
13650
A
C
A
A
G
G
C
T
G
G
G
C
A
C
A
T
G
G
T
G GCTGTGCACT ACAGCTGAGT CCTTTTCCTT
13700
TTCAG
A
A
T
C
T
G
G
G
A
T
G
T
T
A
A
C
C
A
G
A
A
G
A
C
C
T
T
C
T
A
T
C
T
G
A
G
G
A
A
C
A
A
C
C
A
13750 | Exon 3
I W D V N Q K T F Y L R N N Q 36
A
C
T
A
G
T
T
G
C
T
G
G
A
T
A
C
T
T
G
C
A
A
G
G
A
C
C
A
A
A
T
G
T
C
A
A
T
T
T
A
G
A
A
G
GTGAGT
13800 |
var(13760):[C:0.12]
L V A G Y L Q G P N V N L E 50
GGTTGCCAGG AAAG
C
CAA
T
G TATGT
G
GGCA TCACGTCACT TTGCCC
G
TCT
13850 |
var(13815):[T:0.11]
|
var(13819):[C:0.01]
|
var(13826):[A:0.11]
|
var(13847):[C:0.11]
GTCTGCAGCA GCATGGCCTG CCTGCACAAA CCCTAGG
T
GC
A
ATGTCCTAA
13900 |
var(13888):[G:0.16]
|
var(13891):[C:0.11]
T
C
CTTGTTGG GTCTTTGTAT TCAAG
T
TT
G
A AGCTGGGAGG GCCTGGCTAC
13950 |
var(13902):[A:0.01]
|
var(13926):[C:0.01]
|
var(13929):[A:0.04]
T
G
AAGGGCAC ATATGAGGGC AGCCTGAAGA GGGTGTGGAG AGGTAGAGTC
14000 |
var(13952):[A:0.11]
TAGGTCAGAG
G
TCAGTGCCT ATAGGCACAG TGGTC
C
CAGG GCCACAGCTG
14050 |
var(14011):[T:0.12]
|
var(14036):[T:0.20]
GGAAGGGCAA AT
A
CCAGAAG GCAAGGTTGA CCATTCCCTT CCTCAAGTGC
14100 |
var(14063):[C:0.01]
CTATTAAGGC TCCATGTTCC TATGTTGTTC AAACCCTAAC TCAATCCCAA
14150
ATTAATCCAC CATGTATAAG GTTGAGCTAT GTCTCTTATT CCTGGACACC
14200
ATACTCAGCC ATATTCTGGT CCAC
A
CATTA
A
A
C
A
A
G
C
T
G
G
A
T
G
A
C
C
T
T
G
A
14250 |
var(14225):[G:0.12]
|
REPEAT
|
var(14245):[T:0.03]
A
G
A
A
G
C
T
T
C
A
C
C
C
A
C
T
C
T
G
T
T
C
C
T
C
A
G
C
T
T
T
C
C
C
T
T
C
A
G
T
G
G
G
A
T
G
A
T
A
T
14300
C
A
A
C
T
G
G
A
C
A
A
C
A
G
G
A
T
G
T
G
C
G
A
T
T
C
T
T
T
T
A
G
T
T
C
C
A
G
C
C
T
T
C
C
A
G
G
A
T
G
14350
TTTTC
A
CTCC CCTGTTTGTT GTTGTAGGAT GGTATTACCT CCACCTTCCC
14400 |
var(14356):[G:0.12]
ACCTTCCCTA TGCCCTGGTT CTGTCTCCTG TGCCTCGCTC TGAAAGTGGA
14450
TGAGACCTAC AATTCCTGTC CTGGTAGTTC TCCTAATGAA CACACTGAAG
14500
CACGAGGAAG CTGAGATTTT TGTTGCTACA TGAGAGCATG GAGGCCTCTT
14550
AGGGAGAGAG GAGGTTCAGA GACTCCTAGG CTCCTGTGGA GCCCCACTCA
14600
TGGCCTTGTT CATTTTCCCT GCCCCTCAGC AACACTCCTA TTGACCTGGA
14650
GCACAGGTAT CCTGGGGAAA GTGAGGGAAA TATGGA
C
ATC ACATGGAACA
14700 |
var(14687):[A:0.12]
ACATCCAGGA GACTCAGGCC TCTAGGAGTA ACTGGGTAGT GTGCATCCTG
14750
GGGAAAGTGA GGGAAATATG GACATCACAT GGAACAACAT CCAGGAGACT
14800
CAGGCCTCTA GGAGTAACTG GGTAGTGTGC ATCCTGGGGA AAGTGAGGGA
14850
AATATGGACA TCACATGGAA CAACATCCAG GAGACTCAGG CCTCTAGGAG
14900
TAACTGGGTA GTGTGCATCC TGGGGAAAGT GAGGGAAATA TGGACATCAC
14950
ATGGAACAAC ATCCAGGAGA CTCAGGCCTC TAGGAGTAAC TGGGTAGTGT
15000
GCTTGGTTTA ATCTTCT
A
TT TA
C
CTGCAGA CCAGGAAGAT GAGACCTCTC
15050 |
var(15018):[G:0.12]
|
var(15023):[G:0.11]
TGCCCTTCTG ACCTCGGGAT TTTAGTTTTG TGGGGACCAG GGGAGATAGA
15100
AAAATACCC
G
GGGTCTCTTC ATTATTGCTG C
T
TCCTCTTC TATTAACCTG
15150 |
var(15110):[A:0.14]
|
var(15132):[C:0.17]
ACCCTCCCCT CTGTTCTTCC CCAG
A
A
A
A
G
A
T
A
G
A
T
G
T
G
G
T
A
C
C
C
A
T
T
G
A
G
15200 | Exon 4
E K I D V V P I E 59
C
C
T
C
A
T
G
C
T
C
T
G
T
T
C
T
T
G
G
G
A
A
T
C
C
A
T
G
G
A
G
G
G
A
A
G
A
T
G
T
G
C
C
T
G
T
C
C
T
G
15250
P H A L F L G I H G G K M C L S C 76
T
G
T
C
A
A
G
T
C
T
G
G
T
G
A
T
G
A
G
A
C
C
A
G
A
C
T
C
C
A
G
C
T
G
G
A
G
GTA AAAACATGCT
15300
V K S G D E T R L Q L E 88
TTGGA
T
CT
C
A
A
A
T
C
A
C
C
C
C
A
A
A
A
C
C
C
A
G
T
G
G
C
T
T
G
A
A
A
C
A
A
C
C
A
A
A
A
T
T
T
15350 |
var(15306):[G:0.01]
|
REPEAT
|
var(15346):[T:0.12]
T
T
T
C
T
T
A
T
G
A
T
T
C
T
G
T
G
G
G
T
T
G
A
C
C
A
G
G
A
T
T
A
G
C
T
G
G
G
T
A
G
T
T
C
T
G
T
T
C
C
15400
A
T
G
T
G
G
T
G
G
A
A
C
A
T
G
C
T
G
G
G
G
T
C
A
C
T
T
T
G
G
A
A
G
C
T
G
C
A
T
T
C
A
G
C
A
G
A
G
T
G
15450
C
C
T
G
G
C
T
T
G
C
G
C
T
G
G
G
C
A
T
C
C
A
A
G
G
T
G
G
T
C
C
C
T
C
A
T
C
C
T
C
C
A
G
G
C
T
C
T
C
T
15500 |
var(15453):[A:0.44]
T
T
C
C
A
T
G
T
G
A
T
C
T
C
T
C
A
G
T
G
T
T
T
A
A
G
A
G
T
T
A
G
T
T
G
G
A
G
C
T
T
C
C
T
T
A
C
A
G
C
15550
A
T
G
G
C
G
G
C
T
G
A
C
T
T
C
C
A
A
A
A
G
G
G
A
T
T
A
T
T
C
C
A
A
A
A
A
G
A
G
C
C
T
C
A
A
C
A
T
G
C
15600 |
var(15555):[T:0.01]
|
var(15559):[G:0.13]
A
G
G
C
G
C
T
T
A
T
T
A
T
G
A
C
T
T
C
T
G
C
T
T
G
C
A
T
C
A
T
C
C
T
A
T
T
G
G
C
C
A
A
A
G
C
C
A
G
T
15650 |
var(15614):[A:0.40]
C
A
C
G
T
G
G
C
T
A
A
G
T
C
T
A
G
C
C
C
C
C
T
G
T
G
A
G
A
G
G
A
G
A
C
T
G
C
A
T
A
A
G
A
G
T
G
T
G
A
15700 |
var(15653):[T:0.29]
|
var(15672):[T:0.29]
|
var(15687):[A:0.29]
A
C
A
C
C
A
G
G
A
G
A
C
A
C
G
G
T
C
A
C
T
G
G
G
G
G
C
C
A
C
C
A
C
T
G
T
A
A
C
C
A
T
C
T
A
C
C
A
C
A
15750
GGACCTGAAT CTCTGTGTGC TACTCCCTTG CTCAAGGGCC CCCCTACCCA
15800
CGCAGACCTG CTGTCTTCTA GCAAAGCCCA TCCTCAGGAC CTTTCTCTTC
15850
CAATCCTTAT TGACTCAAAT TGATTAGTTG GTGCTCCACC CAGAGCCCTG
15900
TGCTCCTTTA TCTCATGTAA TGTTAATGGG TTTCCCAGCC CTGGGAAAAC
15950
ATGGCTTTGT CTCAGGGGCT TGCTGGATGC AA
C
CTTAACC TCAATGTGAG
16000 |
var(15983):[G:0.03]
TGGCCATACT GTGGCACTGT C
C
CATCCCTC ACCAGGGACA CTGTTCTGGA
16050 |
var(16022):[A:0.16]
GGGTGACTGC CTGTTCTGTG AGGAGTGGGG ATGGCTAGGA CAT
T
GCATGG
16100 |
var(16094):[G:0.01]
AACACACCAC CACCCCATCT TCTCAGAGCT CAAACCCTGA CAGAACACCA
16150
GCTCCACAGG CCTTGGCTTC TGCTGATGGT GCC
G
TGTATT TACCAGACTT
16200 |
var(16184):[A:0.18]
AGTGGTCCAA GGCCAGAGTG GCCAGATTTC CCAAAGTCAA GGTGTGACAG
16250
TGGGACAGCC TCTTTGTGTC TTTGCTGTCC TAAGAAACCT GGGCCA
G
G
C
C
16300 |
REPEAT
A
G
G
C
G
C
A
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
A
G
A
G
G
C
C
A
A
G
G
T
G
16350 |
var(16341):[A:0.03]
G
G
C
A
G
A
T
C
A
C
G
A
G
G
T
C
A
G
G
A
G
T
T
T
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
16400 |
var(16364):[A:0.01]
A
C
C
C
T
G
T
C
T
C
T
A
T
T
A
A
A
A
A
T
A
G
A
A
A
A
C
A
T
T
A
G
A
C
A
G
G
T
G
T
G
G
T
G
G
T
G
C
A
T
16450
G
C
C
T
G
T
A
A
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
G
A
G
A
A
T
C
G
C
T
T
G
A
A
C
16500
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
C
G
A
G
A
T
T
G
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
16550
C
T
A
G
G
C
G
A
C
A
G
A
G
C
A
A
G
A
C
T
C
C
G
T
C
T
C
G
G
G
A
A
A
A
TTAATT AATAAATAAA
16600 |
var(16556):[T:0.39]
TAAACCT
A
GG TCCCAGAGTC CCACAGAATG GCAGACAGGA GCACCTGGGG
16650 |
var(16608):[G:0.01]
GCTTTTAGGG TATGGCATTT CCCCTGTACT AACTCTGGGC TGTCCAGAGG
16700
GCCATTTCAT GGC
G
TGGAGT GGAGAGGGAG GCAGCACAGG ACTTCCTAGG
16750 |
var(16714):[A:0.04]
CCTCAGCTCT CACCTGCCCA TCTTTTGATT TCCAG
G
C
A
G
T
T
A
A
C
A
T
C
A
C
T
16800 | Exon 5
A V N I T 93
G
A
C
C
T
G
A
G
C
G
A
G
A
A
C
A
G
A
A
A
G
C
A
G
G
A
C
A
A
G
C
G
C
T
T
C
G
C
C
T
T
C
A
T
C
C
G
C
T
C
16850
D L S E N R K Q D K R F A F I R S 110
A
G
A
C
A
G
T
G
G
C
C
C
C
A
C
C
A
C
C
A
G
T
T
T
T
G
A
G
T
C
T
G
C
C
G
C
C
T
G
C
C
C
C
G
G
T
T
G
G
T
16900 |
var(16857):[C:0.41]
D S G P T T S F E S A A C P G W 126
T
C
C
T
C
T
G
C
A
C
A
G
C
G
A
T
G
G
A
A
G
C
T
G
A
C
C
A
G
C
C
C
G
T
C
A
G
C
C
T
C
A
C
C
A
A
T
A
T
G
16950 |
var(16926):[T:0.03]
|
var(16932):[T:0.01]
F L C T A M E A D Q P V S L T N M 143
C
C
T
G
A
C
G
A
A
G
G
C
G
T
C
A
T
G
G
T
C
A
C
C
A
A
A
T
T
C
T
A
C
T
T
C
C
A
G
G
A
G
G
A
C
G
A
G
T
A
17000
P D E G V M V T K F Y F Q E D E 159
G
T
A
C
T
G
C
C
C
A
G
G
C
C
T
G
C
C
T
G
T
T
C
C
C
A
T
T
C
T
T
G
C
A
T
G
G
C
A
A
G
G
A
C
T
G
C
A
G
G
17050 |
var(17001):[A:0.01]
|
UTR
159
G
A
C
T
G
C
C
A
G
T
C
C
C
C
C
T
G
C
C
C
C
A
G
G
G
C
T
C
C
C
G
G
C
T
A
T
G
G
G
G
G
C
A
C
T
G
A
G
G
A
17100 |
var(17068):[T:0.01]
|
var(17076):[G:0.01]
C
C
A
G
C
C
A
T
T
G
A
G
G
G
G
T
G
G
A
C
C
C
T
C
A
G
A
A
G
G
C
G
T
C
A
C
A
A
C
A
A
C
C
T
G
G
T
C
A
C
17150 |
var(17139):[G:0.40]
A
G
G
A
C
T
C
T
G
C
C
T
C
C
T
C
T
T
C
A
A
C
T
G
A
C
C
A
G
C
C
T
C
C
A
T
G
C
T
G
C
C
T
C
C
A
G
A
A
T
17200 |
var(17163):[T:0.04]
G
G
T
C
T
T
T
C
T
A
A
T
G
T
G
T
G
A
A
T
C
A
G
A
G
C
A
C
A
G
C
A
G
C
C
C
C
T
G
C
A
C
A
A
A
G
C
C
C
T
17250
T
C
C
A
T
G
T
C
G
C
C
T
C
T
G
C
A
T
T
C
A
G
G
A
T
C
A
A
A
C
C
C
C
G
A
C
C
A
C
C
T
G
C
C
C
A
A
C
C
T
17300
G
C
T
C
T
C
C
T
C
T
T
G
C
C
A
C
T
G
C
C
T
C
T
T
C
C
T
C
C
C
T
C
A
T
T
C
C
A
C
C
T
T
C
C
C
A
T
G
C
C
17350 |
var(17311):[C:0.03]
|
var(17312):[A:0.03]
C
T
G
G
A
T
C
C
A
T
C
A
G
G
C
C
A
C
T
T
G
A
T
G
A
C
C
C
C
C
A
A
C
C
A
A
G
T
G
G
C
T
C
C
C
A
C
A
C
C
17400
C
T
G
T
T
T
T
A
C
A
A
A
A
A
A
G
A
A
A
A
G
A
C
C
A
G
T
C
C
A
T
G
A
G
G
G
A
G
G
T
T
T
T
T
A
A
G
G
G
T
17450
T
T
G
T
G
G
A
A
A
A
T
G
A
A
A
A
T
T
A
G
G
A
T
T
T
C
A
T
G
A
T
T
T
T
T
T
T
T
T
T
T
C
A
G
T
C
C
C
C
G
17500
T
G
A
A
G
G
A
G
A
G
C
C
C
T
T
C
A
T
T
T
G
G
A
G
A
T
T
A
T
G
T
T
C
T
T
T
C
G
G
G
G
A
G
A
G
G
C
T
G
A
17550
G
G
A
C
T
T
A
A
A
A
T
A
T
T
C
C
T
G
C
A
T
T
T
G
T
G
A
A
A
T
G
A
T
G
G
T
G
A
A
A
G
T
A
A
G
T
G
G
T
A
17600
G
C
T
T
T
T
C
C
C
T
T
C
T
T
T
T
T
C
T
T
C
T
T
T
T
T
T
T
G
T
G
A
T
G
T
C
C
C
A
A
C
T
T
G
T
A
A
A
A
A
17650
T
T
A
A
A
A
G
T
T
A
T
G
G
T
A
C
T
A
T
G
T
T
A
G
C
C
C
C
A
T
A
A
T
T
T
T
T
T
T
T
T
T
C
C
T
T
T
T
A
A
17700 |
var(17692):[:0.02]
A
A
C
A
C
T
T
C
C
A
T
A
A
T
C
T
G
G
A
C
T
C
C
T
C
T
G
T
C
C
A
G
G
C
A
C
T
G
C
T
G
C
C
C
A
G
C
C
T
C
17750
C
A
A
G
C
T
C
C
A
T
C
T
C
C
A
C
T
C
C
A
G
A
T
T
T
T
T
T
A
C
A
G
C
T
G
C
C
T
G
C
A
G
T
A
C
T
T
T
A
C
17800
C
T
C
C
T
A
T
C
A
G
A
A
G
T
T
T
C
T
C
A
G
C
T
C
C
C
A
A
G
G
C
T
C
T
G
A
G
C
A
A
A
T
G
T
G
G
C
T
C
C
17850
T
G
G
G
G
G
T
T
C
T
T
T
C
T
T
C
C
T
C
T
G
C
T
G
A
A
G
G
A
A
T
A
A
A
T
T
G
C
T
C
C
T
T
G
A
C
A
T
T
G
17900
T
A
G
A
G
C
T
T
C
T
G
G
C
A
C
T
T
G
G
A
G
A
C
T
T
G
T
A
T
G
A
A
A
G
A
T
G
G
C
T
G
T
G
C
C
T
C
T
G
C
17950 |
REPEAT
C
T
G
T
C
T
C
C
C
C
C
A
C
C
G
G
G
C
T
G
G
G
A
G
C
T
C
T
G
C
A
G
A
G
C
A
G
G
A
A
A
C
A
T
G
A
C
T
C
G
18000 |
var(17965):[A:0.22]
T
A
T
A
T
G
T
C
T
C
A
G
G
T
C
C
C
T
G
C
A
G
G
G
C
C
A
A
G
C
A
C
C
T
A
G
C
C
T
C
G
C
T
C
T
T
G
G
C
A
18050
G
G
T
A
C
T
C
A
G
C
G
A
A
T
G
A
A
T
G
C
T
G
T
A
T
A
T
G
T
T
G
G
G
T
G
C
A
A
A
G
T
T
C
C
C
T
A
C
T
T
18100
C
C
T
G
T
G
A
C
T
T
C
A
G
C
T
C
T
G
T
T
T
T
A
C
A
A
T
A
A
A
A
T
C
T
T
G
A
A
A
A
T
G
C
C
T
A
TATT
18150
GTTGACTATG TCCTTGGCCT TGACAGGCTT TGG
G
TATAGA GTGCTGAGGA
18200 |
var(18184):[A:0.01]
AACTGAAAGA CCAATGTGTC TTTCTTACCC CAGAGGCTG
G
C
G
C
C
TGGCCT
18250 |
var(18240):[:0.01]
CTTCTCTGAG AGTTCTTTTC TTCCTTCAGC CTCACTCTCC CTGGATAACA
18300
TGAGAGCAAA TCTCTCTGCA AAAAAGA
T
AT GGG
G
C
A
G
C
A
C
T
G
T
C
C
A
C
A
A
C
18350 |
var(18328):[C:0.21]
|
REPEAT
A
G
C
C
T
C
T
A
C
T
G
G
A
A
A
C
A
A
C
C
C
A
A
G
C
A
C
C
C
A
T
C
A
C
A
G
A
A
T
G
A
A
T
T
A
G
T
A
C
A
18400 |
var(18358):[G:0.07]
|
var(18383):[G:0.01]
|
var(18395):[C:0.05]
T
C
A
T
G
T
A
T
C
T
G
C
A
C
A
C
A
A
C
A
C
A
G
T
G
C
T
C
C
T
T
G
G
C
A
A
A
G
A
A
A
A
T
G
A
A
T
G
A
A
18450 |
var(18423):[A:0.01]
T
T
A
C
A
G
C
C
A
G
C
T
G
C
A
C
C
T
C
A
C
A
A
G
A
C
A
G
A
T
A
A
T
C
T
T
A
C
A
A
A
C
A
T
C
A
T
G
T
G
18500
G
G
T
A
C
A
A
G
A
A
T
C
A
C
A
A
A
A
G
C
A
T
G
C
A
T
A
G
A
G
T
G
T
G
A
T
T
C
C
A
T
T
T
C
T
A
C
A
A
A
18550
G
T
T
C
A
A
A
A
C
G
G
G
C
A
A
C
A
T
G
G
G
G
C
T
G
T
T
G
T
G
T
G
G
A
G
G
G
C
T
G
T
G
G
A
A
A
C
A
G
G
18600
T
G
G
T
G
C
A
G
A
G
A
G
A
A
G
C
A
A
G
G
C
C
A
T
G
C
T
C
T
G
T
C
T
G
A
A
G
G
C
C
C
A
G
T
G
A
C
A
C
T
18650
T
G
G
C
C
C
C
T
G
C
G
A
G
A
G
A
G
A
G
T
G
G
C
A
G
G
C
A
G
G
A
G
C
A
C
C
T
G
G
G
G
G
A
T
T
T
T
A
G
G
18700 |
var(18694):[C:0.21]
G
T
C
C
A
G
A
C
A
A
C
A
T
T
C
T
A
T
T
T
C
T
T
G
G
C
A
T
G
G
A
T
G
C
A
G
T
T
A
G
G
C
G
G
T
T
T
T
C
T
18750
G
T
A
T
G
T
A
T
A
T
T
T
T
A
T
TTCAC AATACCTAGA AAATAAAAAG ACTTGCCCCC
18800
CAACAACCAG GGTGTAAAGA AAGGAGCATC TGGGAAATTA TGAGATTAGT
18850
GAATGGAGTA TTGAATTTGT CCCCATAGGT GGGAGTGCAA GACCATGAGT
18900
GACCACTTAT CAAACACACC TCAGTAAACA GTCAGGAGAG TGAGGAGTGT
18950
GGTCCTTTCA CCTGCCCAGG TTGTTTCTGT TAGATTCT
G
G
G
C
T
T
G
G
T
C
T
C
19000 |
REPEAT
T
G
G
A
G
T
C
C
A
A
G
A
G
G
C
A
G
G
C
C
C
C
A
G
T
G
A
G
G
T
C
A
T
G
C
A
C
T
T
G
C
T
G
T
C
T
G
A
T
T
19050
T
T
G
G
C
C
A
A
G
T
C
A
C
C
T
C
C
C
T
T
T
G
T
G
G
G
G
A
C
T
G
T
T
C
C
T
C
A
T
T
T
G
T
T
T
G
A
G
G
G
19100 |
var(19077):[A:0.04]
G
A
A
T
G
T
T
G
A
T
T
T
G
G
A
T
G
GGG ATTTTCCAAA CAGAGCTCCT TGGACCCTTC
19150 |
var(19116):[C:0.02]
CCTCTAAGGT CTCTGGAAAT GGGAAACCCT GCAGAGGGGA GGATAAATGG
19200
GCCAGGATTC ATCCCTTGAA CCCTGTTCCC AACAGAGCCC TCTGTTTTTC
19250
TCTTCTTTAC AACTTGGACC TCCCATGGGA CTTTGTTTGA AAGGGAGACT
19300
TCATTGCTAA AAGCAAACTA AACTAA
G
TAG GCTAAAAGGC AACAAACTGG
19350 |
var(19327):[A:0.35]
AGAAAATGTT TAAGGTCTTC TCTAGATCTA AGATCC
T
A
T
G
A
C
G
T
T
G
A
G
G
A
19400 |
REPEAT
G
G
T
C
A
T
C
C
A
A
C
A
T
C
T
C
T
G
A
G
T
T
T
T
C
T
C
T
T
T
C
T
T
G
T
A
T
A
T
A
A
A
A
T
G
G
A
A
G
T
19450
A
GCTGGCAGG GCAGGGCATG TGTCGTTGAT ATATTTTTAA TCCTGGTAAA
19500
AGGAGGAGGT TCAAGG
C
AGA AAACTCATCA AAGCTTAATG ACAACAATAG
19550 |
var(19517):[A:0.01]
CAGCTAACAT TTGTGAGGCT CTAAGGTAAA ACCCAAGGCT AAGACTCTTC
19600
ATGCAAACTA GGTCAAGCAG CAAGCTACAG GTTAGAAACA GGCAAGGCAG
19650
CAAAACAGTC ACATGGGTGA ACTCTGG