# Lines starting with # are comments and will be ignored. # Each line is an nsSNP, specified by either DNA or protein. # By DNA, each line has four tab or space delimited columns. # CHR POS REF ALT # CHR: The chromosome (1-22, X, Y) in which the nsSNP occurs. # POS: The position where the nsSNP occurs. # REF: The reference nucleotide. # ALT: The alteration nucleotide. # By protein, each line has four tab or space delimited columns. # PRO POS REF ALT # PRO: The protein in which the nsSNP occurs. # POS: The position (in protein) where the nsSNP occurs. # REF: The reference amino acid. # ALT: The alteration amino acid. # Protein can be given in Ensembl protein ID (e.g., ENSP00000003084) # UniProt protein ID (e.g., CFTR_HUMAN) # UniProt protein accession (e.g., P13569) # RefSeq protein accession (e.g., NP_000483) # 2 166848563 C G 2 166903480 G A 2 166894356 C T 2 166198975 G A 2 166852575 G T 12 52082568 G A 12 52159534 T A 9 130438189 G A X 18606157 G A 9 130425622 C T 9 130444768 G A 9 130434370 C T X 18598064 C T 8 133192493 G A 20 62076674 C T 20 47990976 G A 19 13414398 C T 12 13768545 C A 11 33308577 G A 16 56385396 T C 22 38696896 T C 5 140594621 A G 7 75959251 G C 1 26448790 A G 11 118348807 C T 21 45095034 G T 15 26866564 C T 9 130981471 G C 5 161322690 C T 5 14508071 C T 9 140057118 A C 7 98654887 C T 10 26446266 A G 11 35336636 C T 10 62023645 T C 9 130982295 G C 16 89598940 T C 1 26764708 G A 1 112998704 G A X 122778639 T C 5 110819814 G C 11 99872858 G A 17 7317982 G A 1 203696551 T C 11 22770673 G A 2 179638787 C T 18 9263876 G A 10 5242207 G T X 3559896 G A 17 42226361 G A 5 167922407 C T 17 80051289 C T 7 86522284 C T 11 120007964 G C 4 47405630 T C 2 196682472 C G 9 3266287 A G 10 89717712 C T 7 15725912 G A 7 131147981 A G 12 111748354 G A 2 61719854 T C 1 11204792 C T 18 21044050 A G 20 30659560 C T 19 44254841 C T 9 133543569 C T 1 204942535 G A 3 113374041 C T 15 26866594 T C 15 26806254 T C 10 98380294 T A 22 37578625 G A 14 23855757 G A X 70598867 A G 4 159572990 G T 9 138671246 C T 22 50755723 T C 16 72829019 G A 4 113199215 C T 18 55998037 C G 2 227973329 C T 19 50883061 C T 17 80194050 G A 11 3128570 C T X 153678267 C T 4 39219717 G C 16 19592898 A G 8 38187086 G A 10 70696723 G T X 153582817 A G 17 79916868 G A 15 26828484 T C 12 71054873 C T 1 160606986 A T 11 45924220 C T 9 140006436 C T 11 123847971 G C 3 100328738 T C 9 130707754 C A 20 5163782 A G 4 169835159 C T 10 12123503 T C 9 129957454 C T 16 67861220 G C 3 119338448 C T 20 1291448 T G 19 36220944 T C 14 105849238 G A 4 3257580 G T 5 159521013 G A 20 31016003 G A 21 33076194 T C 10 63964649 T C 18 43833760 G C 14 33015396 C T 7 98609133 G A 13 20012276 C T 10 99661350 A G 1 74957878 T C 11 71507190 C T 3 126270951 G A 2 73680571 C T 19 12978336 G C 10 375387 T C 20 32883309 C A 7 128492656 A G 17 46133892 G A 17 40011392 T A 17 39190691 C T 1 24426180 C T 15 85164211 G C 1 54479959 G A 2 219563637 T A 17 73753098 G A 2 128387277 A G 1 152800048 C A 19 12865512 G A 3 12983256 C T 19 56487605 G A 9 32466382 A G 13 60584710 C T 12 6709742 G T 3 126708188 G A 12 124840010 C T 8 8234597 C A 6 122720892 A C 19 46973113 C G X 110928268 A G 22 37578612 C G 11 134183844 G C 21 45379666 C T 12 123444323 C T 9 115567166 A T 17 39537456 G A 1 34498249 G A 20 3782964 G A 19 56569768 G T 3 48608137 C T 3 186395575 A G 1 22307622 C T 10 99093641 C G 22 41652209 T A 6 10874941 T C 6 26158510 A G 5 90106910 G T 5 68578600 T C 3 186917400 A G 19 49517808 G A 12 109292505 A G 12 21229427 A G 1 207648175 A C 19 5613498 G A 4 108871525 A T 10 95275297 A C 13 41834944 G A 2 242572944 C T 6 135358048 C T 3 46722752 C T 14 102807759 C T 9 133569194 A G 1 111862840 A G 19 6733288 C T 6 99831632 T C 2 242615569 C A 1 161641218 A C 6 41002538 C T 15 72462197 G A 14 74060544 A G 19 42813756 T C 13 21729908 T C 4 98480261 T C