chrom
large_stringclasses 5
values | pos
int64 190k
308M
| ref
large_stringclasses 4
values | alt
large_stringclasses 4
values | AC
int64 4
2.39k
| AN
int64 2.45k
2.45k
| AF
float64 0
0.98
| MAF
float64 0
0.5
| consequence
large_stringclasses 11
values | original_consequence
large_stringclasses 18
values | seq
stringlengths 512
512
|
|---|---|---|---|---|---|---|---|---|---|---|
1
| 6,190,892
|
C
|
A
| 356
| 2,448
| 0.145425
| 0.145425
|
non_coding_transcript_exon_variant
|
non_coding_transcript_exon_variant
|
CGCAATGCTGCCGTCGGGAGATTGGAACTACAATATCTTTGCATCTCTAGCTAGTGGATGTTCCTTTGGGCTGTGGACGGGAAGGAGAGGGGGTAGCGTCCGTGCATGACTTATACAAAGTTTCGTAAGTACTAGCCAACAACAGAGGAAACGGCTGCAGGCCTTTACCTGGGTAGTCCAGGTCCAGGACAAAACCGAAATGCAAGATCACAGTATGTGGACTGAGCCCACGAGGCCCAGTATCTGGTTTAAGATCCAAGCCCAATAATTAACAAATTGCAAACCACAACAGAGTATAAAACAGCACACTGATGAATGGTGTAAATCCATTTCTTAGCACAACGCTGGTAACGTGGTTTGCAAACTTCAATTTACAACGTGGTCGCTGGCACAATGATTCGCCACCAGAGAGAGAGAGAGAGAGAACCCAAAAAAAAAAGAAATCACAAACGAAACACAAGGGAAATCACAGTGGCAAGTGGCAGGGAGGGAACGAGGAACCTGGACTGCAC
|
1
| 6,190,913
|
T
|
A
| 4
| 2,448
| 0.001634
| 0.001634
|
non_coding_transcript_exon_variant
|
non_coding_transcript_exon_variant
|
TTGGAACTACAATATCTTTGCATCTCTAGCTAGTGGATGTTCCTTTGGGCTGTGGACGGGAAGGAGAGGGGGTAGCGTCCGTGCATGACTTATACAAAGTTTCGTAAGTACTAGCCAACAACAGAGGAAACGGCTGCAGGCCTTTACCTGGGTAGTCCAGGTCCAGGACAAAACCGAAATGCAAGATCACAGTATGTGGACTGAGCCCACGAGGCCCAGTATCTGGTTTAAGATCCAAGCCCAATAATTAACAAATTGCAAACCACAACAGAGTATAAAACAGCACACTGATGAATGGTGTAAATCCATTTCTTAGCACAACGCTGGTAACGTGGTTTGCAAACTTCAATTTACAACGTGGTCGCTGGCACAATGATTCGCCACCAGAGAGAGAGAGAGAGAGAACCCAAAAAAAAAAGAAATCACAAACGAAACACAAGGGAAATCACAGTGGCAAGTGGCAGGGAGGGAACGAGGAACCTGGACTGCACCGCCAGGCGCCAGCCGATTTA
|
1
| 6,190,916
|
C
|
G
| 4
| 2,448
| 0.001634
| 0.001634
|
non_coding_transcript_exon_variant
|
non_coding_transcript_exon_variant
|
GAACTACAATATCTTTGCATCTCTAGCTAGTGGATGTTCCTTTGGGCTGTGGACGGGAAGGAGAGGGGGTAGCGTCCGTGCATGACTTATACAAAGTTTCGTAAGTACTAGCCAACAACAGAGGAAACGGCTGCAGGCCTTTACCTGGGTAGTCCAGGTCCAGGACAAAACCGAAATGCAAGATCACAGTATGTGGACTGAGCCCACGAGGCCCAGTATCTGGTTTAAGATCCAAGCCCAATAATTAACAAATTGCAAACCACAACAGAGTATAAAACAGCACACTGATGAATGGTGTAAATCCATTTCTTAGCACAACGCTGGTAACGTGGTTTGCAAACTTCAATTTACAACGTGGTCGCTGGCACAATGATTCGCCACCAGAGAGAGAGAGAGAGAGAACCCAAAAAAAAAAGAAATCACAAACGAAACACAAGGGAAATCACAGTGGCAAGTGGCAGGGAGGGAACGAGGAACCTGGACTGCACCGCCAGGCGCCAGCCGATTTATTC
|
1
| 6,192,348
|
C
|
T
| 16
| 2,448
| 0.006536
| 0.006536
|
non_coding_transcript_exon_variant
|
non_coding_transcript_exon_variant
|
CATGACTGCATCGGCCGCGCGCTGGTCCACCGCGCTGGCGCGCCTGGCAGCCGGACTGACGGCCTGCCGGATGGGCGGGCGAGTTTTTATTTCTCCCGTGACTGCCAGCGCTTGATGATTCGGGCCGTTAGACGCGATCACGCTCGCTCGTGAGTCGTGACGACAGCGATGGCACGAATGGATTGGGGTGGTCTGATTCATGAGCAGTGCCATGGAAACTGTTTTGGCGTCCTGACACTCCGGGCTTGCTCTGTGCACATTTCTCTCTTCTTCCGCTCCAGAGCTCAGCGGAAGGTTTCTGCTACAGTGACGTCCATGTGTGGCAGCTGTGGTGTTGCATAGGAACAGGGCATACACCTTCTATTATCAACAGTTGTTTATTTTCTGAATTAAAATATAGCTCAAAAAGTCTAACTTTGTGCAACAGCTATAGTGTTGTATAGGAACGGGACGTTGCCTACAATGCAGAAGTGCTAGCTTGGTTGCCTACCTCCCTGTTGGTCGCCCATTCG
|
1
| 6,192,405
|
T
|
A
| 6
| 2,448
| 0.002451
| 0.002451
|
non_coding_transcript_exon_variant
|
non_coding_transcript_exon_variant
|
GACGGCCTGCCGGATGGGCGGGCGAGTTTTTATTTCTCCCGTGACTGCCAGCGCTTGATGATTCGGGCCGTTAGACGCGATCACGCTCGCTCGTGAGTCGTGACGACAGCGATGGCACGAATGGATTGGGGTGGTCTGATTCATGAGCAGTGCCATGGAAACTGTTTTGGCGTCCTGACACTCCGGGCTTGCTCTGTGCACATTTCTCTCTTCTTCCGCTCCAGAGCTCAGCGGAAGGTTTCTGCTACAGTGACGTCCATGTGTGGCAGCTGTGGTGTTGCATAGGAACAGGGCATACACCTTCTATTATCAACAGTTGTTTATTTTCTGAATTAAAATATAGCTCAAAAAGTCTAACTTTGTGCAACAGCTATAGTGTTGTATAGGAACGGGACGTTGCCTACAATGCAGAAGTGCTAGCTTGGTTGCCTACCTCCCTGTTGGTCGCCCATTCGTGCAACGCAGCAGAAGGAATGATCTTGCAGCGAAAACTGGGGAGACAGGGATCAGAC
|
1
| 6,192,432
|
T
|
C
| 6
| 2,448
| 0.002451
| 0.002451
|
grouped_splice_region
|
splice_polypyrimidine_tract_variant
|
TTTTATTTCTCCCGTGACTGCCAGCGCTTGATGATTCGGGCCGTTAGACGCGATCACGCTCGCTCGTGAGTCGTGACGACAGCGATGGCACGAATGGATTGGGGTGGTCTGATTCATGAGCAGTGCCATGGAAACTGTTTTGGCGTCCTGACACTCCGGGCTTGCTCTGTGCACATTTCTCTCTTCTTCCGCTCCAGAGCTCAGCGGAAGGTTTCTGCTACAGTGACGTCCATGTGTGGCAGCTGTGGTGTTGCATAGGAACAGGGCATACACCTTCTATTATCAACAGTTGTTTATTTTCTGAATTAAAATATAGCTCAAAAAGTCTAACTTTGTGCAACAGCTATAGTGTTGTATAGGAACGGGACGTTGCCTACAATGCAGAAGTGCTAGCTTGGTTGCCTACCTCCCTGTTGGTCGCCCATTCGTGCAACGCAGCAGAAGGAATGATCTTGCAGCGAAAACTGGGGAGACAGGGATCAGACATCAGACTCAGACTACATACTGTACCG
|
1
| 6,192,595
|
C
|
T
| 348
| 2,448
| 0.142157
| 0.142157
|
non_coding_transcript_exon_variant
|
non_coding_transcript_exon_variant
|
GCTCTGTGCACATTTCTCTCTTCTTCCGCTCCAGAGCTCAGCGGAAGGTTTCTGCTACAGTGACGTCCATGTGTGGCAGCTGTGGTGTTGCATAGGAACAGGGCATACACCTTCTATTATCAACAGTTGTTTATTTTCTGAATTAAAATATAGCTCAAAAAGTCTAACTTTGTGCAACAGCTATAGTGTTGTATAGGAACGGGACGTTGCCTACAATGCAGAAGTGCTAGCTTGGTTGCCTACCTCCCTGTTGGTCGCCCATTCGTGCAACGCAGCAGAAGGAATGATCTTGCAGCGAAAACTGGGGAGACAGGGATCAGACATCAGACTCAGACTACATACTGTACCGTCCAGCTACAAACAAATGCAAAAACGGAAATGTTTCTGAGGACCAGACATGTACGAAATGCCGTTATAGCTGTACGAAGTACTTTAGATAAAGCTGAAAGCATGAAAGCGATACCAGCCAGCAGTAAAAATGATGCGTCAGCATCACGACGAGTTCAAACCAT
|
1
| 6,192,719
|
T
|
C
| 670
| 2,448
| 0.273693
| 0.273693
|
non_coding_transcript_exon_variant
|
non_coding_transcript_exon_variant
|
AGTTGTTTATTTTCTGAATTAAAATATAGCTCAAAAAGTCTAACTTTGTGCAACAGCTATAGTGTTGTATAGGAACGGGACGTTGCCTACAATGCAGAAGTGCTAGCTTGGTTGCCTACCTCCCTGTTGGTCGCCCATTCGTGCAACGCAGCAGAAGGAATGATCTTGCAGCGAAAACTGGGGAGACAGGGATCAGACATCAGACTCAGACTACATACTGTACCGTCCAGCTACAAACAAATGCAAAAACGGAAATGTTTCTGAGGACCAGACATGTACGAAATGCCGTTATAGCTGTACGAAGTACTTTAGATAAAGCTGAAAGCATGAAAGCGATACCAGCCAGCAGTAAAAATGATGCGTCAGCATCACGACGAGTTCAAACCATCTGTACTCTAATATCAAATTACGCGAAAGCAGACTGTGTGCTTGTACACTGGCTACTGGTAGCAAGAAACAGGGCATGCAAAACATCGTTGCTCTGCAACACAGAAAAAAAAAAGATTCACTGG
|
1
| 6,192,722
|
T
|
C
| 1,772
| 2,448
| 0.723856
| 0.276144
|
non_coding_transcript_exon_variant
|
non_coding_transcript_exon_variant
|
TGTTTATTTTCTGAATTAAAATATAGCTCAAAAAGTCTAACTTTGTGCAACAGCTATAGTGTTGTATAGGAACGGGACGTTGCCTACAATGCAGAAGTGCTAGCTTGGTTGCCTACCTCCCTGTTGGTCGCCCATTCGTGCAACGCAGCAGAAGGAATGATCTTGCAGCGAAAACTGGGGAGACAGGGATCAGACATCAGACTCAGACTACATACTGTACCGTCCAGCTACAAACAAATGCAAAAACGGAAATGTTTCTGAGGACCAGACATGTACGAAATGCCGTTATAGCTGTACGAAGTACTTTAGATAAAGCTGAAAGCATGAAAGCGATACCAGCCAGCAGTAAAAATGATGCGTCAGCATCACGACGAGTTCAAACCATCTGTACTCTAATATCAAATTACGCGAAAGCAGACTGTGTGCTTGTACACTGGCTACTGGTAGCAAGAAACAGGGCATGCAAAACATCGTTGCTCTGCAACACAGAAAAAAAAAAGATTCACTGGCCA
|
1
| 6,192,840
|
A
|
G
| 1,062
| 2,448
| 0.433824
| 0.433824
|
non_coding_transcript_exon_variant
|
non_coding_transcript_exon_variant
|
CCCTGTTGGTCGCCCATTCGTGCAACGCAGCAGAAGGAATGATCTTGCAGCGAAAACTGGGGAGACAGGGATCAGACATCAGACTCAGACTACATACTGTACCGTCCAGCTACAAACAAATGCAAAAACGGAAATGTTTCTGAGGACCAGACATGTACGAAATGCCGTTATAGCTGTACGAAGTACTTTAGATAAAGCTGAAAGCATGAAAGCGATACCAGCCAGCAGTAAAAATGATGCGTCAGCATCACGACGAGTTCAAACCATCTGTACTCTAATATCAAATTACGCGAAAGCAGACTGTGTGCTTGTACACTGGCTACTGGTAGCAAGAAACAGGGCATGCAAAACATCGTTGCTCTGCAACACAGAAAAAAAAAAGATTCACTGGCCAGGGCGTCCTTGCATGTGCACAGGCTGCAATGCTCAACAAATACTATGAGGTTTTCTCTAAAGCATCTCTCTGTTGTAAAGCAGTTTTTTTTCAGGACGAGGAAAAAAAATAAAAACTA
|
1
| 6,192,861
|
A
|
G
| 1,466
| 2,448
| 0.598856
| 0.401144
|
non_coding_transcript_exon_variant
|
non_coding_transcript_exon_variant
|
GCAACGCAGCAGAAGGAATGATCTTGCAGCGAAAACTGGGGAGACAGGGATCAGACATCAGACTCAGACTACATACTGTACCGTCCAGCTACAAACAAATGCAAAAACGGAAATGTTTCTGAGGACCAGACATGTACGAAATGCCGTTATAGCTGTACGAAGTACTTTAGATAAAGCTGAAAGCATGAAAGCGATACCAGCCAGCAGTAAAAATGATGCGTCAGCATCACGACGAGTTCAAACCATCTGTACTCTAATATCAAATTACGCGAAAGCAGACTGTGTGCTTGTACACTGGCTACTGGTAGCAAGAAACAGGGCATGCAAAACATCGTTGCTCTGCAACACAGAAAAAAAAAAGATTCACTGGCCAGGGCGTCCTTGCATGTGCACAGGCTGCAATGCTCAACAAATACTATGAGGTTTTCTCTAAAGCATCTCTCTGTTGTAAAGCAGTTTTTTTTCAGGACGAGGAAAAAAAATAAAAACTAAGCAGTACCTCGGACAGATAA
|
1
| 6,193,501
|
G
|
A
| 1,124
| 2,448
| 0.45915
| 0.45915
|
non_coding_transcript_exon_variant
|
non_coding_transcript_exon_variant
|
ATCCACCTTCTAAGATTTCGCAGCGCCAAAGACCAAGCCCACAATCCAGGTAACGACCGATCCAACGACCCAGAGGACAAGAAGGAACACGGTGACACCTGCCAGAATGGTCAGGACAGGTGGGCCATCAGGAGAACTCGAGCCATCGTCACTGGAGCTAGGAGAACCTCTGCCTGAAGCGAATAGGGCTTGCCTGTTGTGCTCCTTCCCAAAGCTTATTGCATTCTGAAACCCATGAAATCTTCTTACGGAAGGGCTGCAACGCCTGCTGTATAAAAATAGCAAGAGTAATAACTGAGAGAATGCAATTGGTGCTCCTTGCCATTACTGAATATGAACATGCAAGTTGCAGTGCATAAGTTCTGCGATCATATTCCATACATAGAGAAGTTATTATGATCATAATGGCTCGATCAACTTCCCTGTCATGAACCAAGTAGCTAACTCAAAGATGCATATGTGTGTGTGTGTGGATGCACGTGAAAATGGACATGTGATGCCCTTAATTCCTA
|
1
| 6,199,750
|
T
|
A
| 1,386
| 2,448
| 0.566176
| 0.433824
|
non_coding_transcript_exon_variant
|
non_coding_transcript_exon_variant
|
TTTTATTCTCTAGTGCCTATCTGGAAAACTGCGTCCCTAGGTAACTGAATCCAATCGTGCAATCGGGTTTACAGGGCAGATTGCAACAGCTAAAATCAAGCAAGGCGAGAAAAATTCCCAGCGAATGCGATCGGGTTAAATAGGGAATAGGACGCACCTGCAGCCACGGAGGGCGACGCCGGGGGCGGGGGCTCGGTGCGGGGCCTCGGATGTAGCGAAGGCGCTCGGCTGAAGCCGGCGAGGACAGGGCCGGAGTGTCGGGAGAGACGGAAGAGTGGCGATGAGGTGAGCGGAGATGGCGACCATGGCGAAGAGACGAGGGGAATGGAGGAGATAGGAGAGCACTGGCCGCAGAAATGGATCTGTTGCTGCGGTTTGTCAGTTTGCTGTGGTGGCCTCTAGCTGTAGCCACTGAAAGATGTGCAGTACCTGAGTGACCTGATTTCCTCCTGTTTCAGTTCAGGAGATGTATAATTTATTTCATGTGATCATTGATGAGTTAACATGATTTT
|
1
| 6,202,392
|
A
|
T
| 10
| 2,448
| 0.004085
| 0.004085
|
intron_variant
|
intron_variant
|
ATGACTTTATTTAAAGATATTTTCTACAATCCTAGTCAAACTTAAGAAAGTTTGACCAGCACGGTTCCCATAGCGACAGTTAAATAGGTACAAAGGGAGTATGTGCCACAAAAAACATGTGAAACGTGAATGTCATTACCTGACCATTGACAAACCTTGGTGAAATATGCACTGAATTCCCAACAACCACAATGCGTACTATATTTGATGCTATGGATTGCTCCTGAGCGATTTCAAACAAAAATTATCCATATTAGAATATATTGAGTATAATAATTTACACTTTACAAACACAAATAACATACATTCTCGTCACCCAGATGTCCTGTGACATGGTCAATAAGAAGTTGGAACTGTAGAGGATTGAATGTGTCACTTCCTACACTTAGCCCTGATATGAATACTACATACTTGTCTTCTTCTGTAACCAAAGTAAATGCAGTTTCAGAGCAGTTCAATCGCTGTTAAAATTTGGCAGAAATGTTGAAATATGAACACATCACAATATGGAG
|
1
| 6,204,949
|
A
|
G
| 184
| 2,448
| 0.075163
| 0.075163
|
upstream_gene_variant
|
upstream_gene_variant
|
CTTTTTTTCCTTTTTTGAGCGAACCCTGCGCTGCTTGTAGTAGACTGATTGATTAGGCCCAGCCTGGTAAGCGTAAGCCCTTGGAATTTTTGCACCACGGCCCGTTATAACGTCGCAGTCGCCCGGTGGTTCGGAATTCGGATAGCGTATATGGGTGTCTGGTGGACTGGGCACTGTGGTGTCTGGAGAGCGATTGCTTGCCACTCCCACGCACGTGCTACGCGTGTTCTGTACTTCTGTTCTAAATTTTGCGTGAATGATTGTAGTGAAAGGTGCCAATGTTACCTTTCTTCCTTTTTACATGGGACTAGCACAACAGTCAACGGGGCATACAATCTGTAATGGCACATACGATTTGTTGTGCAAATGCAAATATTAACGAAGTAGCTACGCTACTTTTTTATTATATATACTTAACACATGTGGACGTATGTTAGGACCGTTTCTGAGTTTTAAGGACCCAAGACCAGATTATAAATGGAGGTCGCTACAATATATCAAGTAATTAAAAT
|
1
| 6,223,819
|
C
|
T
| 1,576
| 2,448
| 0.643791
| 0.356209
|
5_prime_UTR_variant
|
5_prime_UTR_variant
|
CGCCTATAAAAGCCGGCTCGCCCCCTCCCGCTCCTCTCTTCTCCCCCATCTCCATTTTTCTCCTCCCACTGATTTTGCATTTTAGCCCCTCAGGAAGCTCGGATTTCGGCCCCGCTCCGGCGGACCGCTTCCGTTCGTGCTCTGCTCCGACCGAGCGCGCCGCGCCGTGGGGGGCAGCTGCGAGGACTCTCGTTCGGCGGCTCTGGTTCTCGGCTTGGTCCCGTTTCTTCCCCAACAAATCTCGTAATTTTTCGTCCAGATTTGGCTTCTCGCCGCCCGTCTGGGTCTTTCTCGTGCGTTTCGCCTTTGGTTTCGCCGATTTGGTGCCGGATTCGGTGGGTTGCGGCCGAGTAGCCTGGATCTCGGGCGCGGGTCTAGCGCTAGGAGCCCTCACACTGGGGATTTCCTGCCGGAGGAAGCTTTTCAAGGGAGCTAGCAGCTAGTAGCTAGCTGCCTTTGGGAGCAGTAGCTCTTCTAGTCTCTGAAGGTTTCACCATACGCGGTGGAGAGCG
|
1
| 6,224,137
|
G
|
A
| 24
| 2,448
| 0.009804
| 0.009804
|
5_prime_UTR_variant
|
5_prime_UTR_variant
|
ATTTGGTGCCGGATTCGGTGGGTTGCGGCCGAGTAGCCTGGATCTCGGGCGCGGGTCTAGCGCTAGGAGCCCTCACACTGGGGATTTCCTGCCGGAGGAAGCTTTTCAAGGGAGCTAGCAGCTAGTAGCTAGCTGCCTTTGGGAGCAGTAGCTCTTCTAGTCTCTGAAGGTTTCACCATACGCGGTGGAGAGCGCTATTAGCTTGAGGAGTAGATTTCGTGTAGCGGTGAGCAAAGTTTGGGTGTCAAGTCTGGTGGTGGAAGCCTTCAGGCTTGAGATTTTCTCCAAGGAGCACGCCGTCTCTGGAAGGAATTTCCTGCCATCCCAGAGGTATGCACTTCCTCCTTTTGGCAAAGCTAGAGTTTCCTTGCTAATTGACTTGCCTTGTACAGTTGTACTGACTAGTATTGATTGCTGATTGAGCCTTTGTCGTGAAATGTCAGGCTGCCGATTTCCTCCCTCCCGGGAAGCAAGCAAGGGCTTTCTTCTAGACGAGCTCTTCTGGTTCCTTA
|
1
| 6,224,310
|
G
|
A
| 20
| 2,448
| 0.00817
| 0.00817
|
grouped_splice_region
|
splice_polypyrimidine_tract_variant
|
CACCATACGCGGTGGAGAGCGCTATTAGCTTGAGGAGTAGATTTCGTGTAGCGGTGAGCAAAGTTTGGGTGTCAAGTCTGGTGGTGGAAGCCTTCAGGCTTGAGATTTTCTCCAAGGAGCACGCCGTCTCTGGAAGGAATTTCCTGCCATCCCAGAGGTATGCACTTCCTCCTTTTGGCAAAGCTAGAGTTTCCTTGCTAATTGACTTGCCTTGTACAGTTGTACTGACTAGTATTGATTGCTGATTGAGCCTTTGTCGTGAAATGTCAGGCTGCCGATTTCCTCCCTCCCGGGAAGCAAGCAAGGGCTTTCTTCTAGACGAGCTCTTCTGGTTCCTTAAGTTTGTGGGCCGTGGCTATTTAATCTCCAACTGCATCCCCAGATATTCACCAAATTCTGTGAGACTGGGAACTCCGGGATTGGTTTGGATAAGGTGTTCTGGGAATGGGGAACCAATGCCCAAACGGGACCCTTGGGAGTGACTACTACAACCGCCCGACGTCCAGGTTCGC
|
1
| 6,224,374
|
C
|
T
| 64
| 2,448
| 0.026144
| 0.026144
|
5_prime_UTR_variant
|
5_prime_UTR_variant
|
TTGGGTGTCAAGTCTGGTGGTGGAAGCCTTCAGGCTTGAGATTTTCTCCAAGGAGCACGCCGTCTCTGGAAGGAATTTCCTGCCATCCCAGAGGTATGCACTTCCTCCTTTTGGCAAAGCTAGAGTTTCCTTGCTAATTGACTTGCCTTGTACAGTTGTACTGACTAGTATTGATTGCTGATTGAGCCTTTGTCGTGAAATGTCAGGCTGCCGATTTCCTCCCTCCCGGGAAGCAAGCAAGGGCTTTCTTCTAGACGAGCTCTTCTGGTTCCTTAAGTTTGTGGGCCGTGGCTATTTAATCTCCAACTGCATCCCCAGATATTCACCAAATTCTGTGAGACTGGGAACTCCGGGATTGGTTTGGATAAGGTGTTCTGGGAATGGGGAACCAATGCCCAAACGGGACCCTTGGGAGTGACTACTACAACCGCCCGACGTCCAGGTTCGCTGATGGTTGTCTTGAGGACGATCGCTACTCTGACTTGAAGAAGTTTGACAAGCCATGGCCTGAG
|
1
| 6,225,155
|
A
|
G
| 4
| 2,448
| 0.001634
| 0.001634
|
synonymous_variant
|
synonymous_variant
|
GTCAGGCCACAAGAATGTTGTTTCCATCAAGGATGTATACGAGGATGGGCAGGCGGTGTATATTGTGATGGAGCTCTGCGCCGGTGGGGAGCTCTTTGATCGAATTCAGGAGAAAGGGCATTATAGCGAACAGAAGGCTGCAGAGCTCATAAGAATCATTATTAGCCTTGTGGCTATGTGCCATTCACTTGGGGTTATGCACCGTGATCTAAAGCCAGAAAACTTCCTCCTTTGGGATAAAGAAGATGACCTGTCAATAAAAGCAATCGATTTTGGTCTATCTGTGTTCTTCAAACCAGGTAGGACATCAAATTTGATGTGTACCAAGACATTCTTGATTTATTGCTATTTTATTTAAAGCAGCAGATTAATGCCATAGCGTTTACATATCTACTTACAAGATATTTAGCTAGATAGTAGTGACACCTAATACTATCGTCTGCAAGCATCCTTGACTCCTTGAGCCGACTCTATGAGCAACACACTAGTCTCTAACACTAAGCATTGTACTG
|
1
| 6,226,799
|
A
|
G
| 20
| 2,448
| 0.00817
| 0.00817
|
intron_variant
|
intron_variant
|
ACATATTCCAATTAACACAATAATTTGTACATGATAAAAGTGGTCATGGATGCAGCTAGTTTCTTCCATATGAGCTACAGCATTTCCAGGCTGATCACCCTGATTTTGTTCACTTTACACGGGGATACAATGCACTAATTATTCTAGGGTTTGGAGTTCAGTTCAAAATACTGGAATATGCACTGTAACATGTTTGGTTCAATTTTGTTTTGCCTTGGGTGGTATGCATTCTGCAATTGTCAGTTATGTCAATACACGGTGTTAGGTTTTTCTGATACTTTATGTACCTCCAGGTGATAGCTGAACGACTTTCTGAGGAGGAGATTGCTGGGTTAAGACAAATGTTCAAGGCAGTTGACGTTCAAAATAGAGGCGTAATTACTTTTGGTGAACTTAGACAAGGTTTAAAAAGATATGGTAGCGAATTGGAGAATAGAGAAATTAGTGATATAATGGAAGTGGTAAGTGCAATTAGTTGGCTTTAATTTAAACTCCAGTATCCAAAACCTGTG
|
1
| 6,228,332
|
G
|
T
| 126
| 2,448
| 0.051471
| 0.051471
|
3_prime_UTR_variant
|
3_prime_UTR_variant
|
TCTCTTCTCGTGTTCATCGTTTCTCCACACGACCTGAGAGTTCCGGTCGACATGACATGTATCACGAGGAGAGAGCAAATCAATCGATTCATTTAGTGGTATTTATCCCAAATAAAGTGTGGGCTGGCAGGCAGAATATGGTTTGTCATGAGAGACACTAGTATGGGTTTATATGTATAAATATATAGCAGTGGTGGTATATTGGTTTATGTAGCGGGTGATCCTGTCAAGCGATCCAATCGAAATACCAAAAGTGCGTTCAGTTTGCCCGTTTTGTTACGGGTTTCATGAAGATGAATGTGATTATGTTTTCTCATGTCGAGATTTGCACTTCCTTAAAACGCAGCAGATTTACCAATTCTTTTTTACCTGTCAGTGTCAGTGCCGTATAAACGATCGTTTTGTGCTTACGCTCTACGCCTGCAGGCGCATGTTCTGGCAGCCGCTGTCTTTGCAGTCTGGGCTCCATGAGCCAGACCAGTTTGGCAGTTGCTAGGCACGCAGCGGGAAAC
|
1
| 6,243,249
|
C
|
A
| 696
| 2,448
| 0.284314
| 0.284314
|
downstream_gene_variant
|
downstream_gene_variant
|
GCTTTTAGAACGATTGACTCAGTAGATGACTCCTATCTAAGTTATTCTCATAACAATGACCGAGGATAAAAAGATGAAATGGTTGAGTAATCATAAAATGACTGAGTTTTATTCAATTTTTTCCGATGCTTGTATTTTGTAGAATGACTGGCCCGCTAAATAATTGTTATATAAGTCATTCTTATGAATGTCTGAGTCTAAAAGATGGAATGACCGGGCCGGATAAAACTCTGAGATAAATATATTAAGTGAGATCTAGTTTTAAAGTTTCCGTCGTGACGAACACAATGGTGGAATTGGTTTTCAATTTCGACACTCGGATTAGTAGATATTATTATTTTTAAATGAAACATGAATCATGCATGAAGTCATTTTTTGAGAAAGTGGTTGGAGCGTTTATTTAGTGCAGCATTGCAACGGGCTAACGACACACAAAATATTTGACAAATGTTAGCACCCTTATGGTTATTTGTCTGTATGTTCAATGGTACATCTGGAGAAGAAGCATGAAA
|
1
| 6,252,908
|
A
|
C
| 252
| 2,448
| 0.102941
| 0.102941
|
missense_variant
|
missense_variant
|
TCAGTTCTGAATCCACAAGTTTTGCGTTTGGATGCCTTGTGTATGATTCAACCCTTCCACCAGGCAATCTGATAGCAAGTGTCTGAGCCTTAACAGGGTAAGGTGACAGATAGTGAGCACTATCCTGATAGACAACAAGTTGTGCTTCGGCTTGAGTGATTTCTTCTGGGAATGGTTGAAGAGAGTGTGTGAACACAGTCAGAACATCCAAGTACAGAGTCTTTCCTTTTTCCAAAGGTTTGGGCAACAATGCTGAAAAGAATGTCAGCTCCGGGGGAGCTCCAGAAGGTTGAACAACTTCAATTGGCAGAACAGTACTTTGACCCTTCACTTTCCCTTCACTGCCGAATGCTCTAATAGCTGCCAAGTTCTTGGCTTGAATATTGGGAAAAGGCAGTAAAACTTGAGAGACAGGGTCTGGTCCAACATTTTCAGCCTAGGCAAGTTGGGAACCATGTAACTTTTAGAGAAACGAAACAAGAACATATTCCACCTAGAAAAGAGCACTTGCA
|
1
| 6,253,272
|
A
|
G
| 420
| 2,448
| 0.171569
| 0.171569
|
non_coding_transcript_exon_variant
|
non_coding_transcript_exon_variant
|
CAAGTTCTTGGCTTGAATATTGGGAAAAGGCAGTAAAACTTGAGAGACAGGGTCTGGTCCAACATTTTCAGCCTAGGCAAGTTGGGAACCATGTAACTTTTAGAGAAACGAAACAAGAACATATTCCACCTAGAAAAGAGCACTTGCAAGAGAGATATTATTCTATAACAAAAACAGAAAAGATCCAAAGAATGTTAAGAATTTCAAGGCTGATACATATACTGCAAGGCATAAACATGATCAAAATATGGAAATATAGATGCCTTAAGAATAGATGTCTATACATAAAACAGAACTCAACAAGCATATCTATAAACTGGTTTAGAAAGCATATGGCTAATTCGTGGAGACAGAGAATTGGGTACATCGAAATTGACAGTAGAAATTTCAGCAGAGGTGACTGGTGAATAGTTGCTGACATTGCAACTGGGTTTCCGGACTGATAGTAAGCAGTGTTGATACAGTGAAAGTGAAACAGGCCGACCCGCTTCATTATGTATGTCAGATGCCAA
|
1
| 6,253,379
|
T
|
A
| 4
| 2,448
| 0.001634
| 0.001634
|
non_coding_transcript_exon_variant
|
non_coding_transcript_exon_variant
|
ACGAAACAAGAACATATTCCACCTAGAAAAGAGCACTTGCAAGAGAGATATTATTCTATAACAAAAACAGAAAAGATCCAAAGAATGTTAAGAATTTCAAGGCTGATACATATACTGCAAGGCATAAACATGATCAAAATATGGAAATATAGATGCCTTAAGAATAGATGTCTATACATAAAACAGAACTCAACAAGCATATCTATAAACTGGTTTAGAAAGCATATGGCTAATTCGTGGAGACAGAGAATTGGGTACATCGAAATTGACAGTAGAAATTTCAGCAGAGGTGACTGGTGAATAGTTGCTGACATTGCAACTGGGTTTCCGGACTGATAGTAAGCAGTGTTGATACAGTGAAAGTGAAACAGGCCGACCCGCTTCATTATGTATGTCAGATGCCAAAAAAAATGAGTTCACAAGCATCATCCACTATAACTATTAACTAGCTCCAAAAATGCTGACCAGGTTTCCCGGGGCAGATAGTTAGGCATGTTTAATTTTTTAGCAGC
|
1
| 6,253,822
|
G
|
A
| 114
| 2,448
| 0.046569
| 0.046569
|
non_coding_transcript_exon_variant
|
non_coding_transcript_exon_variant
|
AACTAGCTCCAAAAATGCTGACCAGGTTTCCCGGGGCAGATAGTTAGGCATGTTTAATTTTTTAGCAGCAAATTGACACCGGTGAATAGACCAGTAGCCATGAATTTATTAGGATAATTCACTCTATGAAACTGCTAGCTTCATCGATACATGGCAGCGTTCTAATCAAGCTGACAAGGCAACAGTGTCATTTCAGACTAGTACGAGACGCATAGTTGGGCAGGCAGGAACGATTCATGAAAACAAGGGAGTGGCGAAGCCAAGCATCAAAACCTTGAGGGAAGCGAGGACGCGAACGATATGCGAGGTCAGATCAACCTGCGAGGAGAGAAAGGGGAAAACAGACACAGTTAGATCCGAGAGCGCTGAGTCGAGAGAGAGGTGGGAGATGAGCTCCGGAGATCTGGACAACGAGGACTGTACTGACCCTCCGATCTGCCTTGGAGATGACGAGATCGGCGCTCGCGGCGGAGGCGAGGACGCCAGCGAGGACGAGGAGGAGGAGCGCGGCG
|
1
| 6,265,768
|
G
|
C
| 240
| 2,448
| 0.098039
| 0.098039
|
grouped_splice_region
|
splice_polypyrimidine_tract_variant
|
GACCCATCTCACTCCAGGGGTGCTCGAGAGGCCCAGGTGCCGCTTCACGAACGACGTCTGGTGCGTGAACCGGAACCGTGAAGGGTCTGCAACGCAAGAACGAACGACCTCGTCAGCTTCGATCACTCTGCTCATGCATCAAGAGCCAATAGGGAGCTGCGTTCTTCTTCTTAGTATTAGTTACCGTTTGCGTACTGGTATTCCAGGGAGTTGGTCTCCGATTCCCATTTCTTCCATTTCCTCATCTGCACGCGCGCGACAAGATGTGGTGAGTGTTTTCTAACACCGTGCGAGAGTCGTCCATTGAATTCAAGATGCTTGGGCCTGTGTGCTTACTTTGAGACGCCCCAGCGCCATGGTGGCGACGCTGTAGACGATATGGAACACCGCGAGCACGAAGATGAAGATGTGCAGCTGGTGGACGCCGGCCGAGGAGATGAGGGACACCTTGCCCTGCACGCGGGAAACAAACAAAGAAGCAGCGTCACCCACCCATCATCGCCATCGCACCG
|
1
| 6,279,144
|
A
|
T
| 56
| 2,448
| 0.022876
| 0.022876
|
synonymous_variant
|
synonymous_variant
|
CATGCATAAACACCATTAACATATTACAATCAAAAGTATGCCCTTTAGATGCAAGTATTTCTAAGATACGGTTTATGCAACTCTAAATTTTAGTACACTTGCCTCTGTTTCAGTTTCTTTGTCACCAATATCTCCAATGGTTCGTACATAGTGTCCTGATGGATATCGAGACAAAACATCCCATGAATCAACCGCGACAACAATTCTTTTGTTCACAAGATTCTCAAGCTGCCTGGTTTGAATTCGAATCTTAGGAACTCTTCGATCTTTTGAAACAAATAAAGCATGAGCGACACCCCCACTACCAGCAGGCATGGGCATCGGCTGCAAGGATCCACAGTACCTGCAGAACACCAGAACCTTATCATATAATGACAAGATCAGGATAGTACACATAAGAAATCTAACTCATAACACATAGAAACTCACGAATTCCAATTTCGCTTGATTATACCCATAACACGCCCAACTGGACGACTAGAAATGGAAGGAGCTGATGATCCAACTGTTGA
|
1
| 6,365,650
|
T
|
A
| 124
| 2,448
| 0.050654
| 0.050654
|
synonymous_variant
|
synonymous_variant
|
GCTATATACCCCTCGCAAGCTCTCCTCACTCCTCTCCTGTGCCTGCCTCTTCCATTCCTTCTGCTACGCCATTATATGTTTGCAAGCGTCAGAAGTGCATGCTTCTGCGCAGTTGCCCTGTGATGAGGCAACCAACAGCCAAACATCGCTGGCATTCCATTCCACACAGCTCTACTGCATTGTGCTAGTACTAAAAGTTTCTCAGGCTCTGCGTTTGGTTTGCTTGAGATTTTTGGAATCTGCCTTTGGTTTAATTGCTAGATTCTACAGATTCAATTACATACAAGCACATTACCCCTAGGCATAGTAGTATCTACATGCGTTTGGTTCATTATGAGATATTTTTATCCGGATTCTAAAAACCCCATGAAAACCAAACAGACTTTCAGTCACTTCTGAATCTCACTCTCTGCTATGTTAGCACCACGGATGCTGAGTGTCGCTCCTGAAATGGAGGCATCTTTCCTTGCGCGTGATCATGCATAGGCGCATAGCTGTGGGTGTGAAAGTTC
|
1
| 6,372,642
|
C
|
T
| 1,308
| 2,448
| 0.534314
| 0.465686
|
missense_variant
|
missense_variant
|
AAACGAGCCGAGCTAGGATGTCAGCTTAGCCCGTAAAAAATTTAAACGAGCCGAGCTGATCAAGAACCGAGCGATCCGACGAACCACAAACATTTTGTCTAGGTCTATTTCCAAACCCTGCAAAACTTGCATAAGTCACAGAAACAACACATATGAACTTCCCATACATGTTTTGTTTACATTACATCACATCACACATCCATGTTCTGACAAGTCTTGCAAAAAATTTAAATAAAAAACAGCTTCCTCATCAACCACGCTCCTCCTGTGTGTGAAAAAGACTGCATGCAAAGAGACGACAATCCAAAATAAGAGGTAGCAGCAACACCATATCAGAAGCATTGTCGAGCGTGCATATATGTCTCGATCGGCTGGGCAGGGCTAGGTAGTACAACGTACCTGCAGTTGCGCGGCACGGTCCAGGACACCTCGCGCTTCTCCTCGCGCGGCAGCGCCCTGTACCGCCTCCAGTCCTGGAGCATGGCGTTGAGGTCGCCGATCTTGCGGCGCAG
|
1
| 6,372,806
|
C
|
T
| 6
| 2,448
| 0.002451
| 0.002451
|
grouped_start_stop
|
stop_gained
|
TACATGTTTTGTTTACATTACATCACATCACACATCCATGTTCTGACAAGTCTTGCAAAAAATTTAAATAAAAAACAGCTTCCTCATCAACCACGCTCCTCCTGTGTGTGAAAAAGACTGCATGCAAAGAGACGACAATCCAAAATAAGAGGTAGCAGCAACACCATATCAGAAGCATTGTCGAGCGTGCATATATGTCTCGATCGGCTGGGCAGGGCTAGGTAGTACAACGTACCTGCAGTTGCGCGGCACGGTCCAGGACACCTCGCGCTTCTCCTCGCGCGGCAGCGCCCTGTACCGCCTCCAGTCCTGGAGCATGGCGTTGAGGTCGCCGATCTTGCGGCGCAGGCCGACGCAGCAGTTGGCGTGCATGGTGCAGACCCTGCTCAGGTTCCGGCTGGGCTCGCAGAGGCCGCCGAAGAGCTCGGTGCTGAGGAACCTGATCCGGACGCCGAGCTCGCCCACGTAGGGATCGCGCTTGATGGCGTTGAGCACGTCCTGGTCGTGCAGCC
|
1
| 6,372,817
|
C
|
A
| 258
| 2,448
| 0.105392
| 0.105392
|
grouped_start_stop
|
stop_gained
|
TTTACATTACATCACATCACACATCCATGTTCTGACAAGTCTTGCAAAAAATTTAAATAAAAAACAGCTTCCTCATCAACCACGCTCCTCCTGTGTGTGAAAAAGACTGCATGCAAAGAGACGACAATCCAAAATAAGAGGTAGCAGCAACACCATATCAGAAGCATTGTCGAGCGTGCATATATGTCTCGATCGGCTGGGCAGGGCTAGGTAGTACAACGTACCTGCAGTTGCGCGGCACGGTCCAGGACACCTCGCGCTTCTCCTCGCGCGGCAGCGCCCTGTACCGCCTCCAGTCCTGGAGCATGGCGTTGAGGTCGCCGATCTTGCGGCGCAGGCCGACGCAGCAGTTGGCGTGCATGGTGCAGACCCTGCTCAGGTTCCGGCTGGGCTCGCAGAGGCCGCCGAAGAGCTCGGTGCTGAGGAACCTGATCCGGACGCCGAGCTCGCCCACGTAGGGATCGCGCTTGATGGCGTTGAGCACGTCCTGGTCGTGCAGCCCCGGGTGGCGC
|
1
| 6,381,562
|
A
|
G
| 36
| 2,448
| 0.014706
| 0.014706
|
grouped_splice_region
|
splice_donor_region_variant
|
ATTCATATAATAGCAATGCATAGAGATTAACGAACAGTACGCATGCAATTGAACAACGCCTCTGATGAAGTAGGGGGCAGTGCAAGCTCACCATCGTTTAGAATGGCGATGACCAGGATCATAAATGGCGAGAAATCAAATTTCCATATCAATGCAATCAGCAAGAATCCGAGCTGCACGTTCACAGTTCATAAGAATTTCAGACAATACTCTCTAGATTCTTTGCAAGGCCTATGTCAAAACAAAAAAAAATTAACTTACCACAATACGAATAGTGATCGACACCGCGTATATCTGACCAAAAACAAGAGAACGGATTAGGGTCAGGTCAGAATTGATCGACACAATCGCCAGAGGAAGAATGCTCACAGTGTAGTTCTTCATTCTCTGGAAGATGGCCCTGCTGGTGAGCACGGCACTGATGATGACACTGAGGCCTTCTTGGGTAAGAACGATGTCGGAGGCGCTCCGTGCCGCATCAGTGGCTCCCGCCACGGCGATTCCGATGTCGG
|
1
| 6,477,284
|
A
|
G
| 1,074
| 2,448
| 0.438725
| 0.438725
|
downstream_gene_variant
|
downstream_gene_variant
|
CAACCCCTCGTTGTTTGCGCTCGCCGGAGAAGGCTTCTTGTCCATCCGCGAAGGGAGCACGAATAGTGCAGCAACTTCCGACGACACTCAGGTCGCTCCCGAGGGCAGTGCTGAGCCCAGGAAAGCCTCAGAGACGATGTGCCCCTCAGGAACGTACGGTCGCCTCGGATTGAGAGTTAGAGCGAAGGTCACACGTCGCCACTATAGACCGCCCTAGGGGCAGGGGGCATTCGACTATTCGAGCCTGGAAACAACAAAAGAAACTGTCCCCATATCGAGTGCTTAAGCTTGATGATATCATACTATATTTTTTCATCATATAGTATTGATGAATTGATCGACGTAATCCTGGTGATGGGTGGCAATGCCAGCTTTGGAAACCTGAGCAGGAAGGTGTTTACCTTATCTAGACCGAGCCTTGCCAAATTGGCCCGAATCGGAATGGTAAAGATCAAGACCATCTAGCTCCTCCCAACAATGAAATTATAACTGATATTACTACGTGGGACTAA
|
1
| 6,477,930
|
A
|
C
| 414
| 2,448
| 0.169118
| 0.169118
|
missense_variant
|
missense_variant
|
CGGGTCTATTCTATAGCGTGGACAAGGACAGGTCGAGGCTGATCTGGCTCCCCCACGACGTGGCCGCCGTAGGCGAGAGCCGGCCGCCCTCGTCGCCGCTGCTGCGGCTGCTTCTCGTAGCTAGGGACAGCGAGAGCGAGCAGCCGTCCTCCTCCTCGTCGTGGTCGTCTTCTGAACCCGCCGACGACGTCCAGCAGGGATCGCCGCCTGCTTGTTCGGCCACTGCGGGCAGCCTCGGCGGCGTCTCCAGGCCGCAGCGCGCTTCGGCAGAGGCGCCATGAGCGATGAGAGCCGTGCCGACCATCTGCTTGCAAACCTTCAACTTCGTTAGCTAGCGTTAATTGGATAAGTTAGCTGCTTTTTTAAAAGAGGGCAGTAAGTTATTAGTAGTTTAGTACTTGTATGAAATGTAATCAAAGTAAAAGTTGTAATAAATATGTAGTACATATATATTCTGATAATACTAGACAAATAATAGTGGTTCAAGCTAGACCAGGTTAACTTGGCACACC
|
1
| 6,479,671
|
C
|
T
| 18
| 2,448
| 0.007353
| 0.007353
|
missense_variant
|
missense_variant
|
GAGGTGGATGACGAAGCGTGCGCGGAGGCGGAGCACGAGCGCCGGCAGCCATCCCCATGGCCGCTTGCATCATGCGCATGTAGCTGTTGTAGCCACCTGCTGCTGCTGTTGCGAGCGCCCAGCACAGGCCGCCGCTGGCGCTGGGTGGTGATGGTGACCCGTCGCCCTCACATGTTCCTGGGCCTGGGCCTCCTCGCAGCAGCACCCTCTTGGGGCTCGCGCTCCCATCCATCTCCTCCCGCTCACGCCTCCTCCCCGCACCACTGTTGTTTGGCTCCTCCATTGCAAACACACTACACGGCAAGCAAAGCAACATGCATGCATGCATGCATGGTTGGTTCACAACTTCACATCGTGCCGTGTACGTGCAGGAGAAAATTAAAGCTGCTAGTAAAACTGACACGAACCAAGTTGATCAAAGTTTTATACTACAACCACCTTTCTCGAATATTTTGTAGTTCATTTTAAACTAAAACATGACAAATAAAAAAGAACGGACCAACCAATTAGCT
|
1
| 6,480,354
|
G
|
A
| 4
| 2,448
| 0.001634
| 0.001634
|
missense_variant
|
missense_variant
|
TTCCAATGCATGGCAAATGCGGCTGCAGCAGGTCATGGTCATCGTCTGTCATTATCCGGGTCGGGACGCGAATGGATGGCCTCCCTGACGTGACCGATGAGCATATACAGAGAAAGAAAAATGAGTAAAAAATAAAAGGCAGTGACCTTTTCAGTTGGCGTTGGAACAGCGTCGTCGCCTCCTTTCCAGGCTTTGGTGGTGGTGGCGAGCGGCAGACGACGATGCAGCAGCAGGCCGGGCCATCGCACTCATCATGACCGCACTGCGGCTGTCGTCGCTGTGTATCGGCGCAGAGTTCCATATGCATGCCGCCTAGGCCGTATACGTGCTCCTCCGCCCGGTGCACCAGCTGCATCGTCGTCCCTGACAACAGGATCGGCAAAAGAAGAGGAAGAATGGCTTGGTGTTAGCTTTGGGTTTTGCTCTCTGGCCTCTGATGAGCTGGTGGAGTGCAGCAGCACTCCAGCAGCTAGCGGTAGCGGGTATGTATATATAATACAATCGCGGCCTAT
|
1
| 6,482,054
|
A
|
C
| 578
| 2,448
| 0.236111
| 0.236111
|
missense_variant
|
missense_variant
|
TCATGTTCCTGTACATCTGTTCGACACATTCAGAAGAATAAAACTATATTCAGTCAGTAGTGCGCACTCTCATAAAAAAAGGAATATATATACTCCATACTAGTTAGCTATTGTAGATAGGTGAAGGAAAAATGAAGAACAGAATCCAAAGACCAAGAGAGAGGACCTGCAGATGGCTTTTGACATGAGATATGGTGAGTCCTCCCACACCCATCAGCTGCAGGACTCGCTTCGGCGTAGCCTCTGCGACCACGTACAGCATGCAGGTTCAGAGGAGAAACGCGCCCAATATAATCCGGCGCCAAACCAGAGGAAGACGAGAGGAATGAAAAGAGAGCAATGCAAGAGAAGATAATCAAGCAGCTAGCAGCAGGAGGCATGCACGCAAGGAAGGAAGCACACATACTGTCCTGGCCTCCGAGCTTGTGGATGGCGTGGACGAAGCAGTGGTGCAGATCGGGCGTCCACCGCAGGCGAGGCACCTTGGACCTGTTGTACTGCCTCACTCCCCC
|
1
| 6,482,187
|
G
|
A
| 92
| 2,448
| 0.037582
| 0.037582
|
5_prime_UTR_variant
|
5_prime_UTR_variant
|
GAAGAACAGAATCCAAAGACCAAGAGAGAGGACCTGCAGATGGCTTTTGACATGAGATATGGTGAGTCCTCCCACACCCATCAGCTGCAGGACTCGCTTCGGCGTAGCCTCTGCGACCACGTACAGCATGCAGGTTCAGAGGAGAAACGCGCCCAATATAATCCGGCGCCAAACCAGAGGAAGACGAGAGGAATGAAAAGAGAGCAATGCAAGAGAAGATAATCAAGCAGCTAGCAGCAGGAGGCATGCACGCAAGGAAGGAAGCACACATACTGTCCTGGCCTCCGAGCTTGTGGATGGCGTGGACGAAGCAGTGGTGCAGATCGGGCGTCCACCGCAGGCGAGGCACCTTGGACCTGTTGTACTGCCTCACTCCCCCGCTCCTCTCCCTGGCGCCGACCATCGTCGTTCTCACCATGGTCATCTCCCGGCCTCAGCCTCAAGCTACATACAACACGAAGAACGACCTGCCAGCAGCCGGCAGCCGGTTGCCAGTAGCTTATATATTTGGT
|
1
| 6,514,992
|
G
|
T
| 588
| 2,448
| 0.240196
| 0.240196
|
downstream_gene_variant
|
downstream_gene_variant
|
GAACATGAACAACCGGCGTTCGTTAACATAATAACAAGACAATTAAATGCACCAAAATTAAACATGATGCCAATCTACTAGGTACGGTACGGATCAGCTATAGACAGACGTGGTCGTCATCGATCAGGTCAGGTCAGGGTCAGGTGTCAGGAACACACACAAACAGCAGCCGCAGCAGCAGCGCTGGCACGGCCGGCGTTATCAAAAAGGGACAGCCGGCCGGCCATCGCGCGCGCGGATGCAGGCGGCGGCCTTGCCGAGACCGGTCGACTCGACGCCGCCGCCGTCTCACTGGCCCTGCAGCGACGCCACGAACCGGCCGAGGTCCCTGCGCACCACCGGGTTGCCCTTGACGACGGCGTAGTCCTTGGCCACGGCGTCCACCAGACTCGTCGGCACCAGGCACCTGCCCTCGGCGGCCAGCCGCTCCTGCACGCTGCCGCACGCCAGCAGCGCGTGCATCCGCTCCTGCGCCGTGATGGCCGACGGCATCTTATCGTCCTGCAAATGCA
|
1
| 6,516,096
|
T
|
C
| 2,106
| 2,448
| 0.860294
| 0.139706
|
5_prime_UTR_variant
|
5_prime_UTR_variant
|
GCGCCGTCGATCGGGGCGAGGAAGGCCGCGTCGTCGCTGGGAGGGAGGCCGAGGAGGTCGTCGAGCGCGGCGTTGGAGGCGTCCAGCGGGTCGTACACGAAGCCGAGCAGCGCGTCGGTGACCTCGGAGTGAAAGTCGTCATGGAGGAAGCTCATGTCCGGGGCGGGGATGCGGTGTCCGAACAGCGGGGCGGTTGTCGTGTGGAAGCTGAGCGCCATGGGCGGCGAGGTCGGGGGCGGGGGTGGTTGCTTTGCTTTCGCTGCTTGCCCGCTTGCTTGTGTCTGTGTCTCGCTGCGCGAATCAATGGCTCGAAATGAAGCTCAACCGCCCTGTCAGGGCAAGACCGGGAGTCAAGGGGAGGAGGAAGAGGAGGAGAGGGAGGACTGGAGGAGGCGGCGGGCAGGAGTGGAGTGGAGTGTTGGCGCCTTGGCGGTAACCGTCCCTTAAAACGAGGGAGTCGACGGGCCCCAGCCGATCCTAATTAACCGCCATTTGCTCTCTCGCCGTTTTCA
|
1
| 6,758,320
|
A
|
G
| 2,150
| 2,448
| 0.878268
| 0.121732
|
intergenic_variant
|
intergenic_variant
|
TTTCTCTTCTAGGCGAGATTCAAAGGACAGAAGATTTCTCCAATTTTGATCACATCATTAAGCTCGATTGGCGAGGATTTTTCTTCGAGGATTCTTGAACGACATTGCGGCAGAAAGTGACCCTCCCTTGGTGCTTCTTCCTCCTGTGGCTAGAAACCACGGTCCAGCTTGCAGCCTCTTCATGTTGCCAACGAGAAAGCTCTCTCTCCTAATGATCGCCGCCGTCCCGCAAGAGATGTAAGTAGACATCAAAGTATGGAGAGATGACACGGCAAAGGTCGGCCACCTCTAGGCCAACAACCTTATTGGCAACCGTGAAACGAAAGTGCCAATCCGCCAAGAACTGAACATGAAACCCAGACGGAGTGCCTCCCAAGCAGGAGTGCAAGGCCAAGCTCACCGAGGCCTCCGTGAGTCTAAAGGTATATATGTGGAAAACAACAAGCAGATGGAAGCCCCTGACCGGGGAGGAGGACGGATGATGCACAGAGCACCTGAACTTTTTGACGATG
|
1
| 6,774,646
|
T
|
C
| 1,566
| 2,448
| 0.639706
| 0.360294
|
grouped_splice_region
|
splice_region_variant
|
AACAGGCTAATGAGTCTTCAGGTCAATGGGGATCAACACACACGTTTACAACTAAAGAAAGAGCTTCTATAAACTTACAGTGGCAGACAAACCACTGGCCAAAGCGAGGCCCTCCAGACGAATAGGAAACTTGAGGTCACATGACCCAACTATATTTTGGACCTTGAAATCCTGCATGTCAGAAGAACCCATTGAGTCAATGTGAGAGACCAGCAGCAGCAGGAATCCGATCGATCAGAGTGACAAAAGCATTACTTTGAACCGAGCTGGGGAACCGAGCTTCTGGACGATACGCGCAAACTGCAATGGAGGATAGATACGTACTAGTCACACGTCAAAATTCAGCAAAAGCATCCAAAATTGGCATGGCGAAACAATATGACAAGTTTCCATGCCTTACGCGCAGCGAGCCTTGAATCGGCTTCGCTCTTTGCTCCGGTGCAGACCATCTTCCCTGAAGCAAATATCAGTGTCGTTGTCTTGGGCTCCCTTATCCTCATGATAGCCGCAGC
|
1
| 6,778,880
|
C
|
A
| 30
| 2,448
| 0.012255
| 0.012255
|
5_prime_UTR_variant
|
5_prime_UTR_variant
|
CACAAGAGCAAGATGCGAACCGAGCCCCCTCTGGCGCGTGGGACACGACGTGCAGCGCTAACGGCTGGCATGCGGCCACCACGCGCCATGAACCCGTCGTCCCACACGCCGCTCCATCGCCTCGCATCCGCCGCCGCAGTCGTCGCTTCGCTACCGTCCAGTGGGGCCGAGTGGCCGACCCATCCACCGGACCACGGTAGACCGGTTGCACGCCCCCAATCGACCCACCTTCTTCTACAAGCCACTCTCCCTCCCCGTCGCATCTCAGTATCTCACTCCCAGTCGCCTCCGCACATACAAATACGCGACGGGAACGGCCAGGGCCGAACCCTAAAACCATCGCCCTGCCCCCGCCTCCGCCTCCGCCTCCGCTGCATCCCATGGCGGCCGTGCAGCGCCTCCTCCGGGCAGTCGCCCCCGGTGGCTCGGCAGCGGCGGCGGTCAGGAGGCGCATGACGTCGCTTGCGCCGGAGCAGGCGCCGTCTGCGGCCGCCGGGTTCCCATTCGCGGCG
|
1
| 6,779,290
|
C
|
T
| 10
| 2,448
| 0.004085
| 0.004085
|
missense_variant
|
missense_variant
|
GTCGCCCCCGGTGGCTCGGCAGCGGCGGCGGTCAGGAGGCGCATGACGTCGCTTGCGCCGGAGCAGGCGCCGTCTGCGGCCGCCGGGTTCCCATTCGCGGCGGAGCAGAGAGCAAGGCGGCCGGTGGCGGCGGAGAGGAACGTGCAGTGGGTGTTCCTGGGCTGCCCCGGCGTGGGCAAGGGCACCTACGCGAGCCGCCTGTCGCGCCTCCTCGGCGTGCCGCACATCGCGACGGGGGATCTTGTTCGCGACGAGCTCGCCTCCACCGGGCCACTTGCTACGCAGGTGAGAGTGAGCCTCCTCTCCGAACCTCTACGGTCCAGATCGGCCCCACTCTGCTCTGCGCTGATCTGGATTTCATATTTAGTTGTGTGGATCAGCGACATGGTTGAGCTTATTTAGCTAGAGAATTGAGGTCGCCTCGTGTCGAGTGTGGATCAGTACGCGAAATTGTTGATAGATCTGAACATTGCTGCCTGAATTTGACCTTACGTAATACGCTTTGGTTGCAG
|
1
| 6,780,833
|
T
|
C
| 210
| 2,448
| 0.085784
| 0.085784
|
grouped_splice_region
|
splice_polypyrimidine_tract_variant
|
TTCCCAACTACTGTGGCACTGTGATAGCATGTACTCTTTTTGTTAGTATGTGGTTACCTTTTCTTTAAGTATAATTCTTGTGATTATTGTGCCTCCTGCAGGAATATTAACTTAATTTGCGGGTACAGATTTGAACATTTTTGCCGCCATTGTTTCTATTTGAACTCATTGATATTGGTGCAACATGTTGTTAGCAGTTGACAGAAACCTGTTCAAGCATGCACTTGATCATGGTGGTTTGAACTAACTACTTCCTCCTCTCAGGAAATTCTTGATGGCGTTACAGACATTGATATGGTGGTTAATCTGAAACTAAGAGAAGATGTTATAGTAGAGAAGTGCCTTGGCAGAAGGATTTGCGGCCAATGTGGAAAGAACTTCAATTTGGCCTGCATTGATGTTAAGGGTGAAAATGGACTCCCACCAATCTACATGGCACCACTGTTGCCCCCAAACAACTGCATGTCGAAGCTTATTACCCGAGCTGATGATACCGAAGAGGTGGTCAGAAA
|
1
| 6,785,138
|
C
|
G
| 1,572
| 2,448
| 0.642157
| 0.357843
|
missense_variant
|
missense_variant
|
GGTTCGGGGATTTTTCTCGGCCGGGACCATGTTTCGATCTCTTCTTAATATAGTGCCGGGAGGGCGGTCTTTCCCTCCCGGGCCTACTGATTATACTTCACTTGTCCATTGCCCCCCCCCCCCAAAAAAAATCAGTTTCTGGCTGCACCCATGGGTAGAATTGTCATCAATTAGGATGCACATAATAAACCCAAGTTTGAAACAGGTACCTGTAACTTTCTCTTTTGCTGGGAGATGAGTCATGCATGCCAAAGCCGGAAGATTTAAATGGACTCCCTGAGGCACTTCTTCCAGCACTGCCAGGACTCCTCACAGATTCATCACCAAAATCATATGCTATTTCACTCTCAGCCACTTGATCACCTCCACTGTAACGCCTTTCTTCCTTGATATGACCATTAGAGGATGCAACAGGAGACATATCACCATCATCCCAAAGAGATGGCACTTTTCCATTTTCAGCAGAAACTGGGTTTTCCTGTATTGTACCATTATCCTTAACAATACTAAAC
|
1
| 6,785,950
|
A
|
T
| 1,558
| 2,448
| 0.636438
| 0.363562
|
intron_variant
|
intron_variant
|
TGCTTATTTCAGGATATGGCTTTGCTAGTATACGTTAACACGTGTAAAAGGTATGAAATCTTTTGTCTCTTTCACAGATTAGTTACTAGTATTGAATTTCTTAAAACACACAGTAGTAAAGTCACAAATATTTTTTAAAACAGTAGCATGGCAAACACTGGATTGCAAAACTCAGCTTGCAACCATGCAGAGTACTCCGATATATAAACAGACAATTGCCAGCTTTAAAAAGTAACCAGACTTCAGGGATGCTTGAGTAATAGCAGAGGAGAATGCAGTGGAAGTATTTAACCTTCATCTTCAAATTTATCCCAGTCTTCATCCCACTCAATGAGTCCCTCTTGTGGCCCAGGTTCCCAACCTATAACAAATAAAGACAGAAATTATCAGCATATGCAGGTTACGAGTCTGAAGGCTGCAGGAAGTAAATTAAAATGGTAACATCCTTGTTTTAAAGGCGACGCCTAGGCGTCCAGGCGCCCGAAAGATCCAAGGTGTTCCCGTCGCATAGG
|
1
| 6,864,112
|
A
|
G
| 270
| 2,448
| 0.110294
| 0.110294
|
5_prime_UTR_variant
|
5_prime_UTR_variant
|
TCTCATGTAACTATAACCAGTTTCAAGTACAGCCAGGAGGGACTATACTATAGCAAGTAGCTAGCAGCAAAGTTACCGAGACATGCAAAGAGCAAGAGTAGGTGCCTCAAGTCTCACTTAAGGTCAAAACGAACGAACTGTATGGTGCCGTATTTGTTAGTGACAACAGGGGGTCCTTCATTGTCTGAAAACAGAACAGCAGCGTGCCTGCCTGCTATGCTATGGCGATTGGCGACAGGCAGAAGATGGGGGGGAATTACTCTGACAGAGGCAGGGGCAGAGTACTGGTTGGTATATACGGAAGACTCACCGGAACATCTTCCTGAAACACGCCATAGCTGTGGGAAGCCTCCAAAGCGAACTCCATGCTGTTCCTTGGAGCTTCAAGTCCTGGAAGATGATTATGGCATACCAAAAGAGCAGATAAAGATATCATATCGACAAATCAAGGGGAAAAAAAGGATATCTTGATTAATAAAAAAATGTAATCCTACATTCCTATGACCATGCTA
|
1
| 6,864,556
|
C
|
A
| 4
| 2,448
| 0.001634
| 0.001634
|
5_prime_UTR_variant
|
5_prime_UTR_variant
|
ATCAAGGGGAAAAAAAGGATATCTTGATTAATAAAAAAATGTAATCCTACATTCCTATGACCATGCTATAAACTGTAGCGTCCAGCGAGGAATGCAGGATTGCAGGCCTAGTTCATCTGAGAAGGATGGTGGATAGAGAGGATTGGACATTTGGACTGATGATCGCCATACCGTCGCCCTGTCTCCTGTGCGCCCACTTCCTTGAGGTGCTGGCGTGCGAGAAGTCCAGGTACTGCAGCATGGTGCCACCAACCACGGGTGTCCAGCGTGCGCTTCGGTGGCGAGATCAGAGAGGGGTCAGCTGGACGGAAAAGTTTCCTTGTCCTGCAGAAAGAAAGCCCATGTGATGGCTCGTCAGTTCTGCAAATCCATTTCGTGGTAACCAAACCGAACCCGGTACACTCGCGCGCAAGATGCATTGCGAGAAGAGAATAGAAGAGAAGAGAAGGGAGGCGCGTTTCTGATGGCCGGGAAGGCCGAAACAAACCATGGACATGAACAGAACTTAGTCG
|
1
| 6,865,990
|
A
|
T
| 112
| 2,448
| 0.045752
| 0.045752
|
upstream_gene_variant
|
upstream_gene_variant
|
CGAGGACACCAGTTGGTGCAGTGCAGCACCACACGCTTTCGCTGATTTCTCTCCCTCCCCTTCTGCACACACGAACACGAGACACAGGCAGAGGCAGGGGAAGGATCCATTTGGCGGCGTTGCGATAAACTGTCCGTTTCGTGGAACGGATCGCAGTCTCGACCTGTGCTGTGTTTTGTGTTGGCCTCCATCATGTGCTGGGGAATCCGGACGAGATGCTGCCATGTCCTCCTCTCATTAATTATGCATAAATATATTTTTTTAAACATATCCTTACAATAGATGAATCGAAGCCCTTTTATATAGGGGTATTATTATTAGTGATGGTGGCGCGACAAGCGTGCGTGATGGTTCCAGGTGGAACACCCCCCCAGGCCAAACGGGCTGCTGGACCGGCGCTGCCCTGCTGGTGCTCGCCGTCCACTCGCCCTCGCCCAGGCCCAGGGCGGCGGCGGCGGCGGCACATCAATGTCGCCCGGGGTACACTGCCGCTGCCGCCGGAGCGGTGACGC
|
1
| 6,871,096
|
G
|
A
| 208
| 2,448
| 0.084967
| 0.084967
|
grouped_splice_region
|
splice_donor_5th_base_variant
|
CATACTTGTAGGAAAGTACCTTCATATGAGATGTGCTACACATATTGTGAATCTTATTCTGCAAGATGGACTTAAGAAGTGGACATTTCAGTGAAGTGTGTTCGCGCTGCTGTTAGATACAATTTAAACTACTGACAATCTCCAGTATCAGATAACGCATTTCAAAATTCCAAATACCCAAATACACGGTGCTAAACAAATACCAACAATTACCTTATTAATATCAGAATTTAGAACAAGCATAAATGCATAATAGCAACCTGGAAACCTTGCATGAGGAAAGTGGTCCAGTTCTACCGTCGAGCGTGACAACCTCGAACCCTATCCTTTCTCCGCCCTCTCTCACCTCTCCTGCAAACAGAGATGGCACACAGAAATTGGTAAAATGCATGGTCATCACACAGTGGAACGAACCGGAGTTCGAGAAGGCGAGGCAACGCAGTACGGGTATAGAATCCGCGAATGTTGAGGTTCGGGTGGGAGCCTCTGAGGGTTTCAAACACCCGCATGAC
|
1
| 6,986,933
|
G
|
A
| 520
| 2,448
| 0.212418
| 0.212418
|
3_prime_UTR_variant
|
3_prime_UTR_variant
|
AAGCACCCTGATCTGGCTTTGCAGCTATGAGCGCGGTAGTAGGCATTGACATAGTTTGGTTTAGTACTGTGATCTGTGACAGAGGCATGAGCTCCTCGAGCACTGCTCCTCCGGGCCTAATTCTCAAGCTTCCGGCACGCTGATAGACATTTGTAGCTTGCCAAGCGGTTGAAGAGGTAACAGATGGTTGGATTGTTGTCAGAGAATAATAACGCAAAGCAGCTGTTGCATGAGGCGGCGGCGGAACACCATGTAGGCCCCCCATTTTAATCATTTGACCCCCAGTGAGTTGTTGTAAAAGGGTAGGGTAGCTTCTGTACAGGTTCTAATCTTATTGGAGATGACAGTGTTTCGGATGAGGCGGCCGCCTGTTGTCCAATTTGTAACATTTATAGGAGGAAGTATACAGGCGAAAAAGGCAGTGAATAATTGTGCCTTTTGAAATGTTCGAACGGCCGATTGGCGACATGTTGCTGTTGTTTTGATTTCTTGTGCCTTTTGGGCTCACTCTG
|
1
| 6,987,254
|
A
|
G
| 54
| 2,448
| 0.022059
| 0.022059
|
downstream_gene_variant
|
downstream_gene_variant
|
GGTTCTAATCTTATTGGAGATGACAGTGTTTCGGATGAGGCGGCCGCCTGTTGTCCAATTTGTAACATTTATAGGAGGAAGTATACAGGCGAAAAAGGCAGTGAATAATTGTGCCTTTTGAAATGTTCGAACGGCCGATTGGCGACATGTTGCTGTTGTTTTGATTTCTTGTGCCTTTTGGGCTCACTCTGTCCACTGGATACGTTGGATGCTGGTGATTGGCATATATATGTAGGTCATGCTCTTGAGCCTTCTACTCGCTGTGATTCTTCTTCGCCTCGGAAATTAGTCACCAGCAAGGGCGCCCATATGGGTGTACACTGATTTACTGATTTACATTATAGATGTACTGTTTATAGAGTGAAGTTTAAAATAAAGAATAAGACACTGATTTACTGATTTACATTATAGATGTACTGTTTATAGAGTGGAGTTTAAAATAAAGAATGAGATAGAGAGTGTGATAGCCTTTATGCTGGTTTGCGCGCTTATCCGCTTGCATCCCAATCGAA
|
1
| 7,012,480
|
A
|
T
| 1,254
| 2,448
| 0.512255
| 0.487745
|
intergenic_variant
|
intergenic_variant
|
ATAACTGACCGATCAGCACGGTTTTCTTTTCTGTACACCATACATACCCTGAAGGACCATGGATCGATGGTGTGGTGATGTCGGAGGTTAATTAGACTATCTTAGTCAGTTTACTCAATTCTGTACCTATATGCATGCATGCATCTACTACTACTAGCAGGTGTAGTGTAGTATAGATATATCCCCAAGAGGCCATGACGCATGTCTCGTGTCGTAGTCAGCAATCTTGTAGACCCAAGCTACACATGCATTATTATTACTAGTGTCAAGGGCCTCGACCCCTAGGCTAGGAGGTCCGTGGCTACACTAAGTAGTTCGTAGCTGGGTAGAGATGGTGCCAGGGTTGTTATCTGGACACCGAAGCAAGGGAATGAGATTGAAGGCTAGAACATGCGAGAGGTTTAGGTAATACTTCTTTCTTGTCTTCTCCTTACATACTGCTTACATATATATAGGAGATAGCATGCTGGCTGTTAGTCTCCAAGACTCATGTTCAGATCACATAATGGTCT
|
1
| 7,017,694
|
G
|
C
| 28
| 2,448
| 0.011438
| 0.011438
|
missense_variant
|
missense_variant
|
CGCCGTGCTTCGTTTCCCTGCCCGCCTTGGCCGTGCATTAATACCCGCTTCCTTGTGATAGTCCTCTCCCTCCCTCCCTCCCTCCGCCCTCACTTCCCACTCACCTCGCGCTCGTCGCCTCGGCTGGTTCGGTTCTTGGGAGTGTCAGTCTGCTGCCGGTTGCGGTGACCGGCACCGGCACGTAGACGCAGCACTTCTCGGAGACCATCTGTCTGCGCCGTTCCGATGGGTTGCTTCGGGTGCTTTGCGCCGGAGGTGGATGAGGACCTCAGGCCCTCCAAGCACGACGATTCGTCAGGTTCGTTCTCGGTTTTCCGTCCGCGGCGCGTCTCGTGGCTTGGGTTGCTGTGCTTGATTCTTGCTGGGAAAGGAAACAGGGGCTGATGCGAGGAGGAAGGTCGCGCCGGATGTGGCCAGCGGCTACGCGCACAGCTTCACCTTCAAGGATCTGCTTGTGGCAACTGGCTACTTCAACGAGGCCAATTTCATCGGAGAAGGTGGATTCGGGAAGG
|
1
| 7,031,033
|
C
|
T
| 802
| 2,448
| 0.327614
| 0.327614
|
synonymous_variant
|
synonymous_variant
|
TCGGTGTGGCGGCTTCCCCTCTTTGCCTGGCAGATGCAGGGTATCCACGTCTGGGCCAGTGGCAGTTTGTGCGTCTCACAAACAGTTCTGAGAACGTCAACGATCTCTGGTATGATTGCTCGGTATGAAGTATCAGTCACCTAATAACAAGGAGTAAGCCACATCTGTCACTGATAACAACAACTGAGCGTAACTCTATGATCTCGATATCATTCAGCTTACCTTTGCACGGGAATCACTCGAAACATCAGAGCTCCTGAGATCAACCTCCTGCGCATGAGGAAGCAGAATCTTACTGAGACAAGAACATCACCAAACAAAGTAAGGTGAAAAGACTGATTACTTCGGGGATTGGCGTGCCCGGTAGTTATCACGTCTTTTCCTAAGGGCATTTCATCGAACAGGTTAAGAGTGTAACGGCATAACAGCCTGCAGAGCTGTAGGCAGTAGCGATTGGTGGGTCAAAATGAAGGCGACGAGGTGGGAACGTGCAATCTACCTTGAGAGCGCTG
|
1
| 7,032,023
|
C
|
A
| 42
| 2,448
| 0.017157
| 0.017157
|
missense_variant
|
missense_variant
|
GGGGCTGGAACACCCAGCCGCGGCGCGGCGGGGTGGGCTGGTCCCTGTTGTCGTCGCCTGACGGCGGCGGCGGCGGGGGAGTTGCCGTGGTGGTTGTGCTGCAGATGTCGAACAGCGGCGAGAAGCAGACCCCCGGGGACTCGCCGCCGGCCCCGGGCTGGGAGAAGTCGGAGAAATCGAAGCCCGGCGCCGCCATAAACAGCTCCTCCATGAGATCCAGGTCGCCGACCGCGACGTCCTCCATGACGCCGCAGGCCAGCAAGCCGCCGCCGCCGTGGGTCTGCGGCGCCTGCTCCATGCCCGGACAAGCAGCACCAGGCAGCTCAGTGATTCACGGACTTCTTGGCATGCCAATCGGGGGACGCAACAGCACAAGCGAAAGGCGCAGCCGCAACTGGGCGCCGCAGCACAGCGCAGCGAAGGAAGCCAGGCCACGAGCGTAAGAGCCTGGGCACCAAGAAGAAGAAAACGCTAATAATATTTTCAGCCAAGTACTCCAAGGAATCGAGCAC
|
1
| 7,059,969
|
G
|
A
| 10
| 2,448
| 0.004085
| 0.004085
|
intergenic_variant
|
intergenic_variant
|
GGAGCCGTTTGGTTCCCATATTATCGTCCCATTCAGACGAAGCTACTGCTGCATACTATTTGCTTCGATCGGTACGGTGGCATAATTATATGTATATATAGCTAGGGTTTCAAACTGCACTCGTCTGCGGGCATGCGTGCGTGTGCACATTGCATACTACTTGCAGACAGTCGTTTGGTTTGTCTGTCTGTTTGTTTAGGAAAAATTCAGGAGAGGGTGCGAGAGCAGAATGCGCGCGCGCGCGCGCAGGTTGTTGGCGCTTGGCGGCAGCACCCGTGGGCGGCTCACAGCTTGCAAGCAGCACCCAGCTGCATGCGTACCTGCGTCATGTCGATCTCGCTTTGGGCCACTATTAGCTAGCTAGTACTAATAAATAAGCGGCCTAGCTTGATGCCCGCATTTAACGCAAGTAGGCAGTAGTATATACCAGTATATATAAAAAGCAAAGCAAGCAAGAGATACTCAAGATACGGACAGAGCCAGCAGCAGGCACCGATCCAAGAATGGAGCAG
|
1
| 7,100,366
|
G
|
C
| 18
| 2,448
| 0.007353
| 0.007353
|
upstream_gene_variant
|
upstream_gene_variant
|
ACGGCCAAGGCCAATGCGTTGCGTTACACGGCTACTACTACTTCGCGACCAGCGCACCCATTGGGGGCGTTTTTTTTTTTCATTTTTCTTTTCTCGTTCCGGGACGGTTCGATGAATAATGCACCAAAAAAAGGGAAGAAAAGACGAGCGTCGTCATGCAAGCATCCACAGCCGAGGCGCTGTTCAGTCCTGCCCACGCTCAACAACCCTATCTATCCCCCCATTCTAAAACAAACAAACAAACAAATGCTTGCGGTGAGCCGTTACGTGAGGAGGAGCTGAGGGCGGCCTGCCTCCATCACCAAGCTAGCACCATTATTTTACCGCTTGGAATTTCTTTTTGTGCTGTCTGAGTTATAATATACTGTTAACATATATTAATATGCTAGGCATTCAGTCTAATAGGGTAATTCAAATAGGCTATTAGGGTAATCCGAAATTACCAACCCCGAATAGATCCATAATTTTGGTTCGATCTGTTCGATCCACCGAAAAGACCAAATAGTAGATAG
|
1
| 7,102,262
|
G
|
C
| 26
| 2,448
| 0.010621
| 0.010621
|
intron_variant
|
intron_variant
|
CGGATGGCCGCATGGACCTTCTTGTACAGAGCTTCCATGTCATCGGCTTCAATCCCCTTCTTGATGTACTCGCTGAAGTGAGCCTGGTACTTCTCGGGCTCCTCGTCAGCCAGATTCTGGAATAGATTATCATATCATATAGAGAATAATACTCCCTCCGTTTCGTTTTAGTTGTCGCTGGATAGTGCAAAATTAAACTATCCAGCGACAACTAAATAGAAACGGAGGGACTGGGAGTAGTACCAATGGAATTTAGTCAGCCCCCAAATAGAGCACCTGATTTGGGACAGTTACATATTTATGAAATAAACTTACAAATTGATATCCAAATCATTACAAGGGGGGAAAAACTATAATCTGGCAAGCAACATGCACAGCTTACCTTCATATACTCAGCAACATGGAGACCATAGATGTACTTGCGGTGGATATCAGCATCCAGCTGCTTATCATCCTTCTTGAAGCCAGCAAACCTCTTATCGCTGTGAGGAATATCTAGACCACCATCCAAA
|
1
| 7,129,701
|
G
|
A
| 908
| 2,448
| 0.370915
| 0.370915
|
downstream_gene_variant
|
downstream_gene_variant
|
CTCTCGCTCACCATTAGATTGATAGAAACTCCTTCCTTCACCTCCATGGCTACTTGTAATCTGTAAACCCAAAGCAATCCAATACTCAACACCACACATGATGTAGGGTGTTATGCATTCACACAGCCTCATCGAACAGCATATCGACATGCATCCGCACGTACCATCGAGCAACGATCGACATTGCCGTCCCCCCCAAAAGCACTGTGTGGGCTACCCCATAGTGCTCAATCGGTACTAAACACCGACACCACTGACAAGAGGTTGTCTATGTTCGCCAACTCCTTCTAGTTCCACATGAAGTTCGATGACTTCTCGGCCTTCACCTCATGTTGGTGGCTAATGCCGTCAGCGCAAGATACCTAGTGTTGTCGCTACCCTTCTCTGTGGTGGGCATCGTCCTGCCCAGTAAGGCGACGAGCGTGGGGCTTGTTGCTGCTCATATGCGACGTGGTGGTGATGGCGCTGCTAACGGCGTCTGGCACCGTAGTGACGGGGCATTGTGTATGTGG
|
1
| 7,239,307
|
G
|
T
| 234
| 2,448
| 0.095588
| 0.095588
|
3_prime_UTR_variant
|
3_prime_UTR_variant
|
GTTCCTATTTCTTTGTGTCTCTGTCACAGCTGCTCTATTCAGTTTTCAGACGAAAATGATCCTTGTCCACATAGAAAATGATTTTTTTGGTGTGCTTGTACGCATCATCCTACAGCGGCAAACTGCAGGATATAATGTGGTTGTACATGGGCGCCCAAACAAAAAGGTTAGCAGTGTGAAGTGCTAACCGTTCGCCAATCAAACTTCGTTTCTGAACCGGCAGCTGGGTATTGCAATTCACTGTTCGCCATCTAAGGCTTGTTGTACCATCATTTTGCCTGAATGTATTCTTGGTCACCTATTGGTCAATCCGTGTCCAGTTTTCTGACATCCTGGGCTGTATATACAGAATAAGACTTGGCAATTTGTGGCTGTATTTATATAAAATATTTCAAGTAATCCAGACATTCACTCCTTTGCATTGTGATTTCCCTTTTTTTCTGTTTCGAGGGGGATGTATGGATTTTTTCGACTTCTCTGAAATTTGAATGCTGCTTTGCAAGATTTTAAAT
|
1
| 7,242,306
|
C
|
T
| 220
| 2,448
| 0.089869
| 0.089869
|
grouped_start_stop
|
stop_gained
|
TGGAATGGAGGTAGTTTATGTTTCCTTTTCTTTGATACCATTGGAAATGACTCTAAGATTCTCCTGTTCATTTTATGCAGCACAGATGATTTCGTATTACAGCCGTATGAAACAGAGATATCAACCGAATCATCCCCATTTGCCATTGCACTGGCTAAACATTTGCACTCTATAGGTGCTAAGATGTATGGAGCATTCTGGTGTTCTCATTGCAATGAACAAAAACAGGTACACACTCTTTCACCTTATCCTAACCGAATACAAAACGATTTCACAGTTGTAGAACATTATTCTGTTGCGAGGGATTGTAGTCTTGTAGATGCCAAACTTGCTTGGAGAACTCTATTATAGTGCTAGTAATATAACGATAATACGGTATGAACTTATTTGTTGATGCTGCACTGGCCAAAATTCCAAAATGAAAGAGTATAAATGTGATCAAAAAGTCTTTCCAATCCAACCAAATGTTCATGCAGATGTTTGGTCATGAAGCTACGAAAATTCTGGATTAT
|
1
| 7,254,005
|
C
|
G
| 6
| 2,448
| 0.002451
| 0.002451
|
intergenic_variant
|
intergenic_variant
|
AACTAGCAGATGGATGTAAAATTCTCATAAGTGCCTCTGGACTATTATTCGGGATTAAAAAAGAGAGAGTTTCCAAGCGGGAAGGTTGAAACTGCAATTCCGGTGAAAATATGATACTCACAAAAGTTTCATCCTAAAATACAACCCGGGCAGTGCTTTGAATACCCGACGAATAAAACGCAATCACCTTCATCAAGTAATCTCTATCACCTGCGGCGACGGTGGTGCAGTGCTGCCGCCATCAATCACCGCCTGCAGACCCCGACTGCTGCTGCTCGAACTTCTGCACGAGCTCGGTGTCCACGTTCTCGGCGGGCTCCCACGTGGCCTCCTCAATGTCGACCCATTTGACAAGGTACTCCCAGCTGTCCTCCTCTTCCGCCGTCGCTGTCGCCGCCTGCCTCTTGTCGAGCACGGCCTCGGCCACGGCGTACTCCAGCCCGGCCTCGAAGTCGCTCACCAGGTCCTCCGCCACCCACGCCGCCTTCACCCACTCCCTCTCGCCGCCGTCG
|
1
| 7,256,965
|
A
|
T
| 596
| 2,448
| 0.243464
| 0.243464
|
intergenic_variant
|
intergenic_variant
|
GGAACGAGATTTTTATACCGAGAAATCGGTTTTTCCGGCCGATAAATCAATCAGGGCACCCAACCGAGCACAATAAACAGACTTCCGCTGGAAAACACCTTTTTTTATAAACAATAAACATATTTTCATCTTTTTGAAAATTCTCCAAAAATCACTAGAAATACAAATACATTCATGTCATGGGATGAAAATGGATCAACCGCACTGACGAGAAAGTAGGTCCACTAATAACGGCCTAGCTAGGCAGAAATTCATAAGGATGAAAAGACTAGGCCACCTCGATCAACTCTTCTTGGCGAACGGGTCGATAGTCGAGCAACTTTGTGAGGCGGACACGTCGAGCAACCCTACAAGACAGATAGATCGAGCAACCCTCTACCGAGCAACTCTACGAGTCGGAGAAGTAAGGGCCCGCGACAAGGACCAATACGTCTATGGACCCTAGTCCCATGACTCCTCGTCATGCGCCTGTACCTACCCGGTATGAAAACGAGGCAGACACTATTGGCCCA
|
1
| 7,287,975
|
G
|
A
| 2,012
| 2,448
| 0.821895
| 0.178105
|
synonymous_variant
|
synonymous_variant
|
AAAATGCTTCTGCTGTAGTGTGAACCATTATTTTTGGGATTTTTAAATGCGTCCCGTAGTTTAGCAATAATGCTTAGTTTTATTCATCTCTAGTAGTAATGGACAAGGCATACCAAAGAGGGACAAAACTGAGTACTGTTACTGGGGACTAGGGACACAAATTTAGAAGTCCTTTTTTTAGAATAGTAGTCACTGAACCATTCAGTGCTGTTTGGCATCTGGAATATAACTTGTATATGGACAGGTGCCTCCGGCGGAGTTGGAAGCTCTTTTGCTAACACATCCAGAAATCGAAGATGTCGCCGTTATACCGTAAGTGTCAGTAAAGCTCCTTATGGCCGGCATCTTAGCTGTGCCAGGTCCGTATTTAAATGAGTAAACGTGCTGGTGCTTTCGGCAGGTTTCCCGACCGTGAGGTCGGCCAGTTCCCAATGGCCTACGTAGTGAGGAAGAAAGGGAGCAATTTGTCAGAGCGCGAGGTGATGGAGTTCGTGGCGAAACAGGTACGTCTT
|
1
| 7,288,517
|
G
|
C
| 6
| 2,448
| 0.002451
| 0.002451
|
3_prime_UTR_variant
|
3_prime_UTR_variant
|
AAACACCACGTCCACTGTGTGTACGCATGCGCGCGTCCACCCGGCTGGAATTTCTGCAGTTTCTCTGACCCGATGCGGTGCATGTAATGTAACATACTAACATTCGCAGGTAGCGCCTTACAAGAAGGTTAGAAAGGTGGCGTTTGTGGCGGAGATTCCCAAGAACGCGTCCGGCAAGATTCTGAGGAAGGATCTCATCAAGCTCGCCACATCCAAATCCAAACTATGAAAATTGTTTTTCGTGTTTACAGTGCTGGAATACGCCTGTCGTCCACGAGCGGCGAGCCATTCTCTACGCTGCCCCGGTAGTTTGGTTGTAGAATGCTTGTATAACTGAAGATCCCGTCGGCTATGTGCTTGCTTGTGTACAGTGCTCTGTTCTCGTACAATACAATATTGGGAGGGAATACTAGGCGTCTGTACGTAGGCTTGGATGGAAATAATATCCGGTAATTTCAGTGTTGGTATCACTAGAAATTTGTTTTTCGTGTACGTAGGCACGGATCGTCTGT
|
1
| 7,299,164
|
G
|
C
| 1,836
| 2,448
| 0.75
| 0.25
|
grouped_splice_region
|
splice_donor_region_variant
|
GGTGGTGTATAAAGCAGTCGTCAAGCACAAGCTCCTCCTCTCCCTCTCCCTCGTCTCGCCTGAGCAGAGCCAAGCCCATCCATCGTTCCACACCTCCGCGATACGATGTCCGTCCCTCCTGCCCGACTCGCCGCGTCCTCGCTCCCGCTGCTCCTCGTCTGGCTCCAGCTCCAGCTCCTCCTCGCGTCCGCCTGCGACCGCTGCGTGCGCCACTCCAAGGCCGCCTACTACACCTCCGCGCTGACCCTCGCCGGTGGGTACCTTCGCTACGCCGACGCCGCCACCGCTTTCTCCTCCTTCTTTACCAATTAATTAATTCGAATCGCGTGCGTGCAGGCGGCTCCTGTGGGTACGGCACCGATGCCGCCTCCTTCAGCGCCGGGTTCCTCGCCGCCGCCAGCCCCGCGCTGTACCGCGCCGGCGTCGGCTGCGGCGCCTGCTTCCAGGTGCGGTGCAAGGACAAGAAGCTGTGCGGCGCGGCGGGCGCCAGGGTGGTGGTCACGGACCGCGCC
|
1
| 7,300,377
|
G
|
T
| 938
| 2,448
| 0.38317
| 0.38317
|
grouped_start_stop
|
stop_gained
|
TCACGGACGTCGCCCAGGAGGGCTGCTTCCCGTGTGACACGCACGAGTGGGAGGAGGAGTGACGGCACCAGCAGAGCAGAGGCTGCAACGGAACTCGCTGAGGACTGGAGCCTGCGGGCTGCGGAGTTGAGTTGCTCTGTCTGCCTCCTCCGTGTCAGTGTCACTCGCTGCCTTTCTTTTTTTGAGTTTTGCCGGAGTGGCACTTTTAACGACGAGAGGAGAGAGCCCCGAAACCCCTCTCCCTCCCCTGTACATGAATTAGCTGCATGCGTCGTCGTCGTTGCCATGGCCGTTGTTTCAACCGGATCACATGCCTCGTCGTCGTTGCTTTCTGCCAACACTTAAACACTTGTACTAGTAGGCTAGTAGCTTCGTTATTTATATATATATTCTTCTGACGCGGGCCGGAAGAAACTCTCCATGGCCACCGATCCGTCTGGTGCCAGGACAGAACAAGCGGTGCCGGTGAGCGAGACAGAGAGGCGCCGGCCCGGCGGCGGCACGACTCGCTG
|
1
| 7,300,645
|
A
|
G
| 544
| 2,448
| 0.222222
| 0.222222
|
5_prime_UTR_variant
|
5_prime_UTR_variant
|
GCGTCGTCGTCGTTGCCATGGCCGTTGTTTCAACCGGATCACATGCCTCGTCGTCGTTGCTTTCTGCCAACACTTAAACACTTGTACTAGTAGGCTAGTAGCTTCGTTATTTATATATATATTCTTCTGACGCGGGCCGGAAGAAACTCTCCATGGCCACCGATCCGTCTGGTGCCAGGACAGAACAAGCGGTGCCGGTGAGCGAGACAGAGAGGCGCCGGCCCGGCGGCGGCACGACTCGCTGTCCGTCTCTGCACCAGGACATTGGGCAGCAAGCGTACGCTTGGCCTTGAGTTGATTATTACTATTCTGATCCTCACAAGTCACAATCAGTTGCTAATGTCGCAGTCAGCAGTACCGATGATGTAACGCTAAGCATATCTCTCGCCCGCTTCGTTGGTTCTTATCCGTTAAGCTAAGAGCAGGTTGCGTGGATATTAAACAGATTCATGCGTTCGTCTGCTTAGGGTTGGGTTGGGACTTGGGAGGCATGGCTTTGTTTGCGTTGCGTT
|
1
| 7,301,229
|
G
|
T
| 4
| 2,448
| 0.001634
| 0.001634
|
non_coding_transcript_exon_variant
|
non_coding_transcript_exon_variant
|
GAATTTTTGGGTTTGTTGGCTTGGATTGAATTTTTGGGTTTGTTAGCTTGGATTAAAGCCAGCTTTGTTCGTACTGTTCCAACTATAATTTGTAGAGACAAAACATTGTAAAATTGTAGTAGAAGTCAATATGAATTAAAGCTGAGCCAACCGGCCGTTTGTTCTCGGGCAAAACGAGCCTGTTCCTCTGGTAGTTTGTTTGTTTGTTTATCTGACGATGAAGTGGGCTGCTGATTGATACAGTATTATTGACGAGTGCTGACACGGCAGGGACGGAACGCGACGTTGTTTTTTAGTAGACAATAAACTACCAAGGTGCCGCTGCAGAGGAAATGGCTATGCGTTGCTTTCACAACAAGGTCGGGCGTCACGCTTGAGTTGAGTCACTACTGTGTCTTCCTGCTGGTGAAGTTGAGTTTGGTCGCCGCCGACTGAATGAGTGCACCGGTGAGAAGGCTGGGGAGGTGAAGCTTAAGGTCCTTTCTGTGGGTGTTTGGTTTGCCCCTGCTAAA
|
1
| 7,301,400
|
G
|
A
| 338
| 2,448
| 0.138072
| 0.138072
|
non_coding_transcript_exon_variant
|
non_coding_transcript_exon_variant
|
AAACGAGCCTGTTCCTCTGGTAGTTTGTTTGTTTGTTTATCTGACGATGAAGTGGGCTGCTGATTGATACAGTATTATTGACGAGTGCTGACACGGCAGGGACGGAACGCGACGTTGTTTTTTAGTAGACAATAAACTACCAAGGTGCCGCTGCAGAGGAAATGGCTATGCGTTGCTTTCACAACAAGGTCGGGCGTCACGCTTGAGTTGAGTCACTACTGTGTCTTCCTGCTGGTGAAGTTGAGTTTGGTCGCCGCCGACTGAATGAGTGCACCGGTGAGAAGGCTGGGGAGGTGAAGCTTAAGGTCCTTTCTGTGGGTGTTTGGTTTGCCCCTGCTAAAATTTAGCCTCTATCACATCGAATGTTTGAACCTCCGTTCGGGGTATTAAATGTAGTCGGATTATAAAACTAATTTCTCAGCCGAAGATTAAAAAGTGAGACGAATTAGTACAGTTGGTTGGGTCTATATTTCATACTCCTATTTGAAAGTCAAACGCTTGATGTGACTCGG
|
1
| 7,301,408
|
A
|
G
| 736
| 2,448
| 0.300654
| 0.300654
|
non_coding_transcript_exon_variant
|
non_coding_transcript_exon_variant
|
CTGTTCCTCTGGTAGTTTGTTTGTTTGTTTATCTGACGATGAAGTGGGCTGCTGATTGATACAGTATTATTGACGAGTGCTGACACGGCAGGGACGGAACGCGACGTTGTTTTTTAGTAGACAATAAACTACCAAGGTGCCGCTGCAGAGGAAATGGCTATGCGTTGCTTTCACAACAAGGTCGGGCGTCACGCTTGAGTTGAGTCACTACTGTGTCTTCCTGCTGGTGAAGTTGAGTTTGGTCGCCGCCGACTGAATGAGTGCACCGGTGAGAAGGCTGGGGAGGTGAAGCTTAAGGTCCTTTCTGTGGGTGTTTGGTTTGCCCCTGCTAAAATTTAGCCTCTATCACATCGAATGTTTGAACCTCCGTTCGGGGTATTAAATGTAGTCGGATTATAAAACTAATTTCTCAGCCGAAGATTAAAAAGTGAGACGAATTAGTACAGTTGGTTGGGTCTATATTTCATACTCCTATTTGAAAGTCAAACGCTTGATGTGACTCGGGCTAAACT
|
1
| 7,332,060
|
T
|
C
| 442
| 2,448
| 0.180556
| 0.180556
|
downstream_gene_variant
|
downstream_gene_variant
|
AGAATCCATTTTTTTGATATAAAACTTGGTTATGCATGCATGGCAGGGCAATGACGGGCAAAAGAAAGAGAAAATCGCAACTCATCTGCCAGTAACAATCTTTTCATGCGAAAATCTGCGAGATTCTTATCCACAACCAGAAATTGAGCGTAAGGTATGGGCCAGATTCGGATAGAGACCATATAACGTTCCCATAAAGTCCAGCAGCAGTTGGATCGATGCCGCTGTATTTGGACAATGACAGGCTATCCTGATTCAGATCTCTAGTTTGAGCTCCAGCCATGCTGCGATGCAACTGCATTGAGCATTTGCATGTACTCGAGAATATATTGGCAGTTCGTCATGAGCGTCAGCAGAATGTTCAGTAAATCTGCAAGAGATGGATGCAGTGGAGATTTCAGAAGTCCCAGCACCGTGTTCCGTCCTGCTGCTAAACTACATGCGGCCATCGCCTTTACTGCTCACAATCATCGGGAGGGTTATGGGTCGGCCTCTTGCTTGCGGGTGTGCTT
|
1
| 7,337,097
|
G
|
A
| 10
| 2,448
| 0.004085
| 0.004085
|
upstream_gene_variant
|
upstream_gene_variant
|
CCGGCGACACGGTCGCCGGATGCGCGGGGCACTGCCTTCTGATGAGTGCTCACGGCGGCGGTTCCGCATCCATCCCGGGGCATCCGCGACGTCCCAGCGTACTGTACAGAATGAACCGCCGCGAACCCATCGACAAACCCGTTGACTCCAGTGTGGGTGCGCCCGTTTGCGTGAAAAAAAAACAGGCCTCAGATTGAGGCCAACACGTACGGGTACGGGCCCGGAATGACAAAAAAAAAAAAAGGGCACGGGAGGGACGAAGACACCTGGGCAGGAGAGAATCTCGCGAAAGCCAAAACGTGTTTTTGAGCATCACGTCGATTCTCTGCTCCCACGCGCTGCTACTTTTTATTCACCCGTGCGATAGCGCAAGCAGCTTTAGCTTTACCGAGTGCTACTGTTTTTTTTCTTTCGTTCGTCAATTCAATCAGTGGCTATTGACGGTTACACAAACATCGGGCGGGTCGGTTAACCTGATGCACCAGCAGCATTATTGCAACGCTTTGCCATAT
|
1
| 7,341,704
|
C
|
T
| 46
| 2,448
| 0.018791
| 0.018791
|
intron_variant
|
intron_variant
|
CTGTTGCTGTCTGCTGCCTTCTCTACGGGGTACTATTATCTTTATCTAACAAGATGGTGCCTTTATCGCAGCTATCGTTCCAGGAATGGACGCAGCAGATGAGGGACATGCTGGAAGCTAGGAAGCGTGGGGACTTCGCCTTTCGCGATAAAGATTTCAAGGCAGCCATAGATTGCTACACGCAGGTGGCTTCATCTTAGCTATATCAGGAACACTTTGTTGTTCTAGACAACTGCTAGAATAATGCACCCGATTCACTCTGCTACCTCTTCATGCTGCAGTTCGTTGACGTGGGGACGATGGTATCGCCAACGGTGTACGCGAGGCGGAGCCTGTGCCACCTCATGTGTGACCAGCCTGACGCCGCCCTCCGCGACGCAATGCAGGCGCAGTGCGTGTACCCGGACTGGCCAACCGCGTTCTACATGCAAGCTGTCGCGCTCGCGAAGCTGAACATGCAGAGCGATGCCACGGACATGTTGAACGAGGCATCGCAGCTCGAAGAGAAGCGG
|
1
| 7,344,855
|
C
|
A
| 60
| 2,448
| 0.02451
| 0.02451
|
grouped_splice_region
|
splice_polypyrimidine_tract_variant
|
GGGATACTGCCGGGTGAAGGAACAGAAACAGACGGACCCACCCTACTATGGACGAGGACCCATACAGCTAACTCAGTAAGATCAGCAGCACAGACACTCTGCATGCATGTTATTATATATGTTATCCACAGCAGATAGAGTAAAATAGGAGATTTATATTGTATATAACACTGTTTACAAAGTAAAATTTCAAATAGAGAATATGATAGAGGGCGTGATAGGGTATCTACTAGAGAAAACCTAATAACAGGAGCCCATATATGCATGCAGTAAGTACAACTACAGGCTCGCCGGGCAAGCGCTGAACCTGAACCTGGTGGGCGACCCGGACCTGGTGGCGAGAGACCCCGTGGTAGCCTTCAAGACGGCCATCTGGTTCTGGATGACGCCGCAGTCGCCCAAGCCCTCGTGCCACGCCGTGATGACCGGCGACTGGAGGCCCTCCGCCACCGACCGCGCCGCGGGGAGGCTCCCCGGATACGGCCTGACCACGAACATCATCAACGGTGGTC
|
1
| 7,348,102
|
T
|
A
| 938
| 2,448
| 0.38317
| 0.38317
|
grouped_splice_region
|
splice_donor_region_variant
|
GGCCAGACGTCCCACGAAACCACCGGTACGCATGCCATGCATGCATACAGAATGCCTCAACCTCAACCATTTCCTCTTCGATCGGCCGTCGTCTTCTGACTGAGCTCATCGATCTGCTCGCATGGCTACCGTACGTGCAGGTGGATGGGCGACTGCTCCGGGTGGACCGTTTGCCTGGGGATACTGCCGGGTGAAGGAACAGAACCCGACGGACCCACCCTACTATGGACGAGGACCCATACAGCTAACTCAGTATGATCAGCAGCACAAACACTCTGCATGCGCTATGTATAGGAGTATATGTTAACAGCAGCCCAGCCCTATAGCTTGTTGATCATACTGTCATCGCATCGCATGCAGTGAGTACAACTACAGGCTCGCCGGGCAAGCGCTGAACCTGAACCTGGTGGGCAACCCGGACCTGGTGGCGAGCGACCCCGTGGTAGCCTTCAAGACGGCCATCTGGTTCTGGATGACGCCGCAGTCGCCCAAGCCGTCGTGCCACGCCGTGA
|
1
| 7,348,820
|
C
|
A
| 10
| 2,448
| 0.004085
| 0.004085
|
3_prime_UTR_variant
|
3_prime_UTR_variant
|
AAGCCTTACGGAGGATGAGGACGTACGTGGACAACAATAATTATATGGTTGCTGCAAGCCTTCACGTGTTTTTGTTGCCTCTCTACCAACTAAGAATAAATCAAGCTAGCAGCAAACAGGGGCAACCTGCTACCTTCGGCATGTGTCTACTTATCATATAGTGTGTCTATGTATGGCACAGTATCTCATCTCTGGATGCATGATAACGAACTAATCAACGGTTAGCAGCATTCACCTTTACGTTTCCGGTGGTTCCACTTGGCATTTATGACACCAGCAGTGAACAGATGAAAGGAACTATATATATACTAGTGGATGTCGCGCGCCTTGCACGTGATTTAAAATTTGGTTTTTAGACTATCGTTAGATGGAGAAGAGACATAACCGGACTTGAAATATGACAATGCAGGTTACAATCTGCTACATTGTTAGACAAGGCATAGAACAGTACATAGGATTCTATGAAAATATATGAAAAATAACTGAAGCATGAATGACTAAAGCAATGCATA
|
1
| 7,348,858
|
G
|
T
| 10
| 2,448
| 0.004085
| 0.004085
|
3_prime_UTR_variant
|
3_prime_UTR_variant
|
AATTATATGGTTGCTGCAAGCCTTCACGTGTTTTTGTTGCCTCTCTACCAACTAAGAATAAATCAAGCTAGCAGCAAACAGGGGCAACCTGCTACCTTCGGCATGTGTCTACTTATCATATAGTGTGTCTATGTATGGCACAGTATCTCATCTCTGGATGCATGATAACGAACTAATCAACGGTTAGCAGCATTCACCTTTACGTTTCCGGTGGTTCCACTTGGCATTTATGACACCAGCAGTGAACAGATGAAAGGAACTATATATATACTAGTGGATGTCGCGCGCCTTGCACGTGATTTAAAATTTGGTTTTTAGACTATCGTTAGATGGAGAAGAGACATAACCGGACTTGAAATATGACAATGCAGGTTACAATCTGCTACATTGTTAGACAAGGCATAGAACAGTACATAGGATTCTATGAAAATATATGAAAAATAACTGAAGCATGAATGACTAAAGCAATGCATATAATTATTTTTATATGTAGCAGGTGGCAATATAATTTT
|
1
| 7,401,188
|
G
|
A
| 14
| 2,448
| 0.005719
| 0.005719
|
synonymous_variant
|
synonymous_variant
|
CCAGAACAGACATCCAATGCTGTTCCTCCCCTTGTTGTTCGCTGGGATGCCGATATCGACGTACCGCATGGGAGAGTCAGTGTCACAGAAGGCAATGGTTGGGATGTTCCCCAGAGCAGACTCCTTGATTGGCTGCAAACGATTACCAGCATAACAATTAGTTCACCATCACACTGCAGGGTCCACTCAGTAAGTACTTCAGAACTTTGAAACTGAAACTATTGTCACCTGATGGTCAGTCCTTGGGTCAGTAAGGATGAGCAGTCGAGGCTCGCTGAAGGAGGTCTGGAGCTGATTAGTGAATGTACCAGGGGTGTGCCTCCCAGCGATGGCATGGGCGCCAGTGTACTGAGCGAACTTGAGGACAGCACGCTGGCCATATGGGCGGGCAGACTGGACGATGATGTCCTGCGGGTTCTCGATGGCAACGATAACCCTCGCTGCAAGCTGGAGTTTATCCCATGTCTTGCCAAGATTGATGATGTAGATGCCTGACAAAAAAAAAGTAGCAT
|
1
| 7,433,617
|
C
|
A
| 184
| 2,448
| 0.075163
| 0.075163
|
grouped_start_stop
|
stop_gained
|
CACCGTGACCGTCGTGGCGTCCGCGGCCTCCGTCTTGGCCTCCCTGGGCGCGGCCGCGGGCGCGCCGTAGCTGTCGCCCGACGGCGCGGGAGATGACGAGGACGGGAACTGCAGGAAACTTGTGTCGTAGGTGTCGTCCGACGACAGGTAGTCGTCGCCGGTGGAGCCGGCGGCCTGGACCAGGGATGTTGCTGTGGCCCCGCCGATGCGCCTCTGCATCTCCTCCATGGCAGAGGCCCTCTGCTCGAGCTCCTTCAGTGGCGTGGCCTTCCTGTAGATCTTGCAGATCACCATGTCCTCCTGCGGAAGCACGCAAGCGTATGTCAGCCATTTTCGTCTCGGTGACTAGTGACTTCATGGAAGGAGTTTCCATGCAATCTATTAATCAAAAACAAGTCAACTCCTAAGTCAACCACGCCTATTTCTTCATGTCTCGTCGTGCGTCCATGGGTCTACATCACTGACTGTTACCCGAACTGACCACCATATATAGACGAGAGAGGTATCACGGA
|
1
| 7,497,059
|
C
|
T
| 54
| 2,448
| 0.022059
| 0.022059
|
non_coding_transcript_exon_variant
|
non_coding_transcript_exon_variant
|
GCTTGTTCGCTGCGGCTTTAATCCGACTGCGGCTGCGGCTTCTACAGTATTTTATCTCTAGGGATTGCAGCTGCAACAGTATTTTGCAGCTGCAACAGTGCTCCCACATGGGCAGCCGAACAAGCCATAGGATGCCTCCGAACCCAACGCACGCGGGGTCAAGCGTCAATGCTTATCCGCTCTTGCCGAGCCTGCTGGCACGGAAAGCAGAAGAGGACGTGCCGCACGCATCTGCATGAGCATGACATGAGCACGCATCCGCCGTGCCGAGTCACCGACCCCGCGGTCGGCGTCAGCTGGGATTGTGGGAAAAAAAAAGGTGCGGCGGCCCCGGCGGCCGGCACCGTCACGCCGGGGGAGGATAGTGTCCTCGGGCGCCTCGGCGAAGCTGAGCCACGAGGTACCTCAGCGACAACAACAACTGATCGTGCCTCGCCTGCCACGTGTGAGGCGGCCCGTGCCCGCGTCGGCGTGGCGGATCCGTCGCCGTGAAGGGACGGCGCTTTTGCTTT
|
1
| 7,497,098
|
A
|
G
| 366
| 2,448
| 0.14951
| 0.14951
|
non_coding_transcript_exon_variant
|
non_coding_transcript_exon_variant
|
TTCTACAGTATTTTATCTCTAGGGATTGCAGCTGCAACAGTATTTTGCAGCTGCAACAGTGCTCCCACATGGGCAGCCGAACAAGCCATAGGATGCCTCCGAACCCAACGCACGCGGGGTCAAGCGTCAATGCTTATCCGCTCTTGCCGAGCCTGCTGGCACGGAAAGCAGAAGAGGACGTGCCGCACGCATCTGCATGAGCATGACATGAGCACGCATCCGCCGTGCCGAGTCACCGACCCCGCGGTCGGCGTCAGCTGGGATTGTGGGAAAAAAAAAGGTGCGGCGGCCCCGGCGGCCGGCACCGTCACGCCGGGGGAGGATAGTGTCCTCGGGCGCCTCGGCGAAGCTGAGCCACGAGGTACCTCAGCGACAACAACAACTGATCGTGCCTCGCCTGCCACGTGTGAGGCGGCCCGTGCCCGCGTCGGCGTGGCGGATCCGTCGCCGTGAAGGGACGGCGCTTTTGCTTTCCCTTTCCACGTAAAACTGTGCCGGCGGAGCCCGGAGCC
|
1
| 7,497,367
|
T
|
G
| 1,290
| 2,448
| 0.526961
| 0.473039
|
non_coding_transcript_exon_variant
|
non_coding_transcript_exon_variant
|
GAAAAAAAAAGGTGCGGCGGCCCCGGCGGCCGGCACCGTCACGCCGGGGGAGGATAGTGTCCTCGGGCGCCTCGGCGAAGCTGAGCCACGAGGTACCTCAGCGACAACAACAACTGATCGTGCCTCGCCTGCCACGTGTGAGGCGGCCCGTGCCCGCGTCGGCGTGGCGGATCCGTCGCCGTGAAGGGACGGCGCTTTTGCTTTCCCTTTCCACGTAAAACTGTGCCGGCGGAGCCCGGAGCCTGATCCGGTCTCTGCCGCCACGTTGGCCCAGGGCGCCTTGTCCACATGTTCCGCGTCGCGTGGAGCCACGTCGGAGGTGACGCCGCCAAGTACTCCAACTTGCAAGCGCCTTTTGTACTGGCGTGTCGGGGTAACGTGGTGTGCAGTGTGCTACTGTGCTGTACTGCTACATCATTTCGAAATGAGTAATTTGTGCGTCCTCGGGAGGAAAACTTGTCGCGTGCGTCAGACACAAGCCCCGAAAGACAAGGTGCGAGCTTCTACGGTAG
|
1
| 7,497,533
|
G
|
C
| 12
| 2,448
| 0.004902
| 0.004902
|
upstream_gene_variant
|
upstream_gene_variant
|
GCGGATCCGTCGCCGTGAAGGGACGGCGCTTTTGCTTTCCCTTTCCACGTAAAACTGTGCCGGCGGAGCCCGGAGCCTGATCCGGTCTCTGCCGCCACGTTGGCCCAGGGCGCCTTGTCCACATGTTCCGCGTCGCGTGGAGCCACGTCGGAGGTGACGCCGCCAAGTACTCCAACTTGCAAGCGCCTTTTGTACTGGCGTGTCGGGGTAACGTGGTGTGCAGTGTGCTACTGTGCTGTACTGCTACATCATTTCGAAATGAGTAATTTGTGCGTCCTCGGGAGGAAAACTTGTCGCGTGCGTCAGACACAAGCCCCGAAAGACAAGGTGCGAGCTTCTACGGTAGTCGTGTCACGTTGAAATGCCCGCATGGTGGGTGGCGCCGTTCGGTTTGCTTAATCCATACTTATCCGAATACTGATTTTTTTATTGTAAATAAACAGATATGTAATCTGTTATACAAATTTGTATTCTTATTTTTTTATCATTGAACTTGTAAAGATTAATGAACA
|
1
| 7,503,948
|
C
|
T
| 6
| 2,448
| 0.002451
| 0.002451
|
intron_variant
|
intron_variant
|
TCTGTCACAAACTCATGACTGATTTTTCAATGCGCTAAATTACAAAACATTAGGTGCGGAGAAATCTGGGAGGAATGCTGAAGGAGATTCTTGGTGGGAGAAATGGAAAGAAGTTCTGTACCAAGACGAATGGAGGTAATTTAGCTAATTTGTAGATTCAGATATTTTAAGTATACCTGTCCTGCTCTTGTTTAAGACAGAAGGTTTATTCTCCAATGCAAGCTTAACTGACCGTTTATGTAACAAAGAGTTGTGCACAGACTTTCTTTCAGCCTTGTTTTGTTAAGGCTACCTTGAAATCAATGCTGATTCTGTAGCTCTGCAGAACTTAAGATTAGTTTCCACCTGTTTGCAGCTTATAACATTATTAATAGTTATATATACATCCATGCTATTTAGATCATTAGATCCGAAATTTTAGTGCTCTGTTCTTGCACGGATAGGATTCCCACACAACCTGCAAACAAATGATAAACTATATCATTGTTCTTGACACCTATTTGGAGATCCAG
|
1
| 7,506,104
|
C
|
A
| 172
| 2,448
| 0.070261
| 0.070261
|
grouped_splice_region
|
splice_polypyrimidine_tract_variant
|
CCTGCTTATAGATTATCATAATCTAAGGTATCTAGATTACATAATCCACCGAATAATCTGTGTTGTTTGTTTACCTCTCAACTTATTTAAGCTGTATTATATAATCTAGAGGGTAAGCAAACATGGCCGGAGTGCAGAATTTTCCCGGCATCATCATGCAAATGATTTTATCTTACATATTGATACTAGTAGTAAATCGTTTTGGAGTCGACTATTCTGTCGCTAATTCTGCTACTTCAAAACTAAACCATATATCTCTGTCTGGATTTCAGAAAAGTCCACAAGTATGGAAAGAGCACAACCGGCGAGAGGTGGGACTTGGTAGTCGACGAGGAGACATACTACGAGTAAGACTTTCTGTTCCGGCGATCGATTCCCTGAAACGTCTCCTCGACGCTAAAATCGCTTCTGAATCTCACTGTCACCGGACTGCAAACATTTGAACCAGGGCGGAGCCCCATTACGGATGGGCCGATGTCGTCGGAGACTCGACGCAGCTGCTGTCCATACAG
|
1
| 7,506,460
|
T
|
G
| 616
| 2,448
| 0.251634
| 0.251634
|
grouped_start_stop
|
stop_lost
|
TCTGTTCCGGCGATCGATTCCCTGAAACGTCTCCTCGACGCTAAAATCGCTTCTGAATCTCACTGTCACCGGACTGCAAACATTTGAACCAGGGCGGAGCCCCATTACGGATGGGCCGATGTCGTCGGAGACTCGACGCAGCTGCTGTCCATACAGCCCGTGGAGAGGCCACCCGGCGTGTTCCCGGCCATCGACTTCAGCTCCGCGCCGCCGCCGAAGGACGCTCCGCCGGGCATGCCCCCTTCTCCTCTGGACTGAGTGAATTAGGCCTGCCAGCACAGACGGATTTTTCTGTCTATATAGGCTCCAGATTTTGCCTGTAAGGGAACAGCATTCTTTGTAGGAAGTTGACGGAACCCCGTTCCTGCGTTCATTGGTTGGCTCATTCTTTGCTACGCATTCCTTTCCTCTGGCTGGGATATATATATATTTTGCTTGGGAACTGGGTGGATGCAATAATCAAACGGCGCCCGTGGTTGTGTGTGTTGCCCCTGTCCCCCTATGTGCTTGCA
|
1
| 7,507,831
|
C
|
T
| 4
| 2,448
| 0.001634
| 0.001634
|
synonymous_variant
|
synonymous_variant
|
CCAGGAGATCGCCACCGCCAACAACATCACCAACGTCAACCTCATCGTCGTCGGGCAGAAGCTCAGGATCCCGCTGCCCTGCACCTGCGACCAGGTGGACGGCGCCGACGTCATGCACTTCGCCTACAGCGTCGCCAAGGGGGACGACCCGCCCGGCATCGCCGCCAGGTTCGGGGTCACCGAGACCACGCTGCTGAGTGTGAATAAGATCACCGACCCCAAGACCAGCCTGCAGCAGGGGCAGATCCTGGATGTCCCCCTCCCTGGTAAGCGTCTTCCTCTTCCTCTTCCTCTTCTTACGCCGCAATCCATACCTAGTTGTGAATTGTGAGGACGATGGAGTGAATAATGCTTGTAGCTCTGCTTAGGACGTACTACGAGACATAGAAGTGGTGGATTTTTTTTTCTAGTTACAGAAGAAAGATGACTTGATATCAGACTGGGAAGCATATGGATGAGCTGTTAGATTCCTCTTATGTGACATAGGTCTGCTAAATGCCCAAATCAAATGC
|
1
| 7,508,555
|
C
|
A
| 114
| 2,448
| 0.046569
| 0.046569
|
intron_variant
|
intron_variant
|
GGTGGAGCGTTTAGACAAGTCGCTATCGGTTCATCCTGCGCGCTAGGACAAGTCCACCGATTTGAATTATTCAAGAAACCACAGCTCATATTCGTCCTAAGAGATCAACTTTTCATTCATAATCTGTTATACGTTGCTATCACCGTGCGAATTGTCTGACTCCGTGTCTGAACCCTAATGAACATGCTATTAGCACAGGACCGCTCACAAGTCTCCGTGCAGTTTACTTTTTTGACTATTACCATAGATACTTGGCCACATCCTTTTTGACTACTGCTTCATTATCCCTCTGTTTACTTTTTTGTTCTATGGTAATAGCAAAAGTGATCTCGCAGTCCCGTCTCCCGTCAGTACTGACTGTTCGTGCAAATTCTGTGCTTCCAGTGTGCAAGTCATCGGTCGGCAACGCCTCGGCTGACTACAACCTGCTCGTCCCGAACGGCACCTACGTGCTCACCGCCGACGACTGCATCCAGTGCAGCTGCAGCGCGAGCAACTACGAGCAGTAAGCT
|
1
| 7,508,680
|
C
|
G
| 122
| 2,448
| 0.049837
| 0.049837
|
grouped_splice_region
|
splice_region_variant
|
GTTATACGTTGCTATCACCGTGCGAATTGTCTGACTCCGTGTCTGAACCCTAATGAACATGCTATTAGCACAGGACCGCTCACAAGTCTCCGTGCAGTTTACTTTTTTGACTATTACCATAGATACTTGGCCACATCCTTTTTGACTACTGCTTCATTATCCCTCTGTTTACTTTTTTGTTCTATGGTAATAGCAAAAGTGATCTCGCAGTCCCGTCTCCCGTCAGTACTGACTGTTCGTGCAAATTCTGTGCTTCCAGTGTGCAAGTCATCGGTCGGCAACGCCTCGGCTGACTACAACCTGCTCGTCCCGAACGGCACCTACGTGCTCACCGCCGACGACTGCATCCAGTGCAGCTGCAGCGCGAGCAACTACGAGCAGTAAGCTCCAGTCTTTCAGCTCTGCCGTCTCTTTTCATCGGCGACGGCACGGCGACTCACAGTTGTTTCCCTTTCCCGTGTGATGATTGCCAGTCTAGACTGCACTCCGGTGAAAGGCGGAAGGTGCCCGGC
|
1
| 7,511,697
|
G
|
T
| 12
| 2,448
| 0.004902
| 0.004902
|
5_prime_UTR_variant
|
5_prime_UTR_variant
|
CGCGTGTGAGACTGAGAGATGGCCAGATGTGGCAGGTGCTCCTTCGGATCAAGCGCAACGCGACCCAATGTGGATGACGAGGTGATTAACGACATTAGAAGATGACGAGGGAGCTAGTCATCTTTGGACGCTTAGGTGTCCGGTTGGATCAGTCACATTTCGTGTGCATTTGTCAAGTGCTTGTGCTCATTATATTAGAGTAGTCATCAGTCATCACTGAGCCTGACTGAGGCGAAAACAAACGGGACATTTGTAGTACGAACCTAACCTGCACGGCATCATGCAAACGGCGTCGACTTCTTCTATATGGCCAGATGCATTGAACAGGTTGGTAACAAATTTCTTTTTCTCCACCACGCCGAAATTGTTTGTGAATCTAGTCTGTTTACTTCCAGGCTTACGTGCGGATGTGGCCAGGAGCGTTGGCCAGTGCTGGACGCCAAACACTGGAACGAACCATCTCGCGGTGCTCTCTACGGAGGCGTGGACGATCCACGGCACAGGGCTGAACG
|
1
| 7,540,341
|
G
|
T
| 22
| 2,448
| 0.008987
| 0.008987
|
upstream_gene_variant
|
upstream_gene_variant
|
AGAATTAATATTATATCTAAATTATGATTATGATTTATTATTATTGTTGGTTTAATTATTGTCATTGATAATATTAATTTGTTAATTGGGAATGGAGAACCACACGAAAGTGATGAGAATAAGGTGAAGTAGGACGCCCTTGCCCGTGGCTGATCGCGCGGAATGGGTCAATGGGAGGAGTGCACGAGAATCCAAATGGGGAGTAGAATATGTGCACTTGTGCAGGCTGATCCGCTGATGCTAGAGCTGTGATGTGATCGGTGATCCGATGCTAATACTATTATATTAGCAGCTCATCTGTACTATTCTGTTAGCAGCTCATGCCTCATCTGTAATTTTTGTGCTATTCTGTTAGGAGTACAGAAAAATGGTTTGATTACTAGACAGTGTTTTTTTAGGTCGAGATATCTTCAGACATATGCCTGTTCATATAAGGATTAGTTATTTTCCTTGGAGTTTTAATTTGAGCATATATTTCTACGCTTGACAAAATTTGTACAAGTTTCTACATG
|
1
| 7,653,622
|
T
|
C
| 262
| 2,448
| 0.107026
| 0.107026
|
upstream_gene_variant
|
upstream_gene_variant
|
TGTCCCATCGAATGTTTGAACCTCCGTTCCGGGTATTAAATGTAGTCGGATTATAAAACTAATTTGTCAGCCGAAAATTAAAAGACGAGACGAATCTAGTCCAGTTGGTTGGGTCTATATTTCATACTCCTATTTAAAAGTCAAACGCTTGATGTGACCCGGGCTAAACTTTAGCAGGAGCAACCAAACACCCCCTGAGGATGGTGGGGAAATTCTGAGCAGGAAGGTATTCAGCCTAGAGGCTAGATCCCATGCTGAGTACACAACTTTTTTACAACTTTTTTTACATACTGTGTGTTGGGACGATATATAAATCTTTGGTAAAATATTAACATACAATAATTAAATATAAATACTCGACGACCGGTGAGTCAGAGGCCAACAGGATGGCTTGCTCGACGTCCTCTGAATCCTCTATGATGATGTGGAAGAATCTGGATGAGGGAGAATGCAACATGAAGGATGAGAAGAAAATGCTAGTGGTTGTTGCTTAGCTATGCATGCAAGAGATA
|
1
| 7,780,479
|
C
|
T
| 924
| 2,448
| 0.377451
| 0.377451
|
missense_variant
|
missense_variant
|
TGCGGGACTCGAACATGCGGCGGGAGCGCGGGTCGGAGACGAGGTGGTCCGCGTAGGGCAGGTGCGACAGGTCGGCGATGGTGAAGTTGTCGCCGGCCAGGAACGTGGCCTCCTCCAGGCGCTGCTCGTAGATGTCCAGCAGCTTCTCCAGGTCCTTCTTCCTCTGCTCGAACAGCTTCAGCATCTCCTCCTCCTTCTGCGCGCTCACCTTGGTCTGGCTCGCCGCCGGCTGTGACCCGGCCACACCGCGCTTGCCGCTGGACGCGTCGGCGTTGCTGCCTACGGTGGCGTCCCTGGCGTTGAACGCGCCGCCGTTGCCGTTGTCGTTCTGCTTGGGCAGGGTGGGCGGCAGGAAGGCGAGGCTGTAGACCATCTCGGCGCTGGGCGCGTCGAAGCTCTGCGCCTCCGTCTGCAGCCACTGCTCGATGGACGCCCGCTCCAGCGCGCCCGTGCCAATCAGGTACGGGTTGCCCTGCTTCGCGTACTTGTGGGAGATGTGGCGGAGGATCCCC
|
1
| 7,780,754
|
T
|
C
| 144
| 2,448
| 0.058824
| 0.058824
|
grouped_splice_region
|
splice_polypyrimidine_tract_variant
|
CTGCCTACGGTGGCGTCCCTGGCGTTGAACGCGCCGCCGTTGCCGTTGTCGTTCTGCTTGGGCAGGGTGGGCGGCAGGAAGGCGAGGCTGTAGACCATCTCGGCGCTGGGCGCGTCGAAGCTCTGCGCCTCCGTCTGCAGCCACTGCTCGATGGACGCCCGCTCCAGCGCGCCCGTGCCAATCAGGTACGGGTTGCCCTGCTTCGCGTACTTGTGGGAGATGTGGCGGAGGATCCCCCTGGAGTCTGCAGCAAGGTAACGTTCAACGGCCGGTGAATGTCAGCGCCATTGCTGCACTGCACCACTGCACCACGTACGCATCCGCCAAGCAGAGCAGCAATGCACTTACCGGAGAGGGTGAGGCTCTCGTCCTCGAAGGTGAGCGCCTCGCCTTGCGGCTGCAGCTTGAGGTACTGGGGCATGCGCTTGGTGCCGCGGTAGGCGTCGACGCGGATCAGCTGGAACTCCACCTCCTTCTCGAAGAGGCACATGAGCACGCGGGCGACCTCCGCC
|
1
| 7,812,929
|
C
|
T
| 70
| 2,448
| 0.028595
| 0.028595
|
downstream_gene_variant
|
downstream_gene_variant
|
GTGCTTTTGGTGTCTTAGATGTCCGAGTTGAACTGTTAGGAACAATAACAAGATTCCCTCAATGTAAAGAATTTTTATTGGTTCTCATTCACCCCCCTCTTTGGTCGCATATTTGATCCTTCACTCTCTATGTAGAGCGGCAGTGTTGCTCCTCTAGCTGGCGGTGCCGGGTCATTGTAGTGCTGCTCATAGGCACAATTGTGCCGCTTGATTAAAAGGTCTCCAATTGAGATGAAACTTCTATGAGCAATGCATCAGAGAAGAAATCAGTTGGTTCGAGAAGTATGAGCTCCAAATGATCACCCCTTTAGAAATAGATTAGAAAATTTCAAACTTTAATTAGGGTTTTCATAAAACTCAAAAAGTGTTGATGACTTGCCCATAAGATGAATCAGCCCATACCTAGTGGTGATAGTGATTCTTGGATGATAACTCAAGTCTCAACCTAGCCAAAGATCCCCCACAAACTAAAATCCAAGATTATCCCCTAAATTTTCACCAAAAAATTAGGA
|
Subsets and Splits
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