General Structure Information
| PDB ID | 3hhd |
| HGNC Gene Label(s) | FASN |
| Structure Name | structure of the human fatty acid synthase ks-mat didomain as a framework for inhibitor design. |
| Resolution | 2.15Å |
| Reference | AUTH G.PAPPENBERGER,J.BENZ,B.GSELL,M.HENNIG,A.RUF,AUTH 2 M.STIHLE,R.THOMA,M.G.RUDOLPHTITL STRUCTURE OF THE HUMAN FATTY ACID SYNTHASE KS-MATTITL 2 DIDOMAIN AS A FRAMEWORK FOR INHIBITOR DESIGN.REF J.MOL.BIOL. V. 397 508 2010REFN ISSN 0022-2836PMID 20132826DOI 10.1016/J.JMB.2010.01.066 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 852 |
| Number Of SNVs | 208 |
| Number Of Permutations | 61405 |
| Optimal Distance Threshold | 27.0 |
| K Statistic | 0.233 |
| p-value | 0.0 |
COSMIC
| Number Of Residues | 852 |
| Number Of SNVs | 14 |
| Number Of Permutations | 14243 |
| Optimal Distance Threshold | 28.0 |
| K Statistic | 0.22 |
| p-value | 1.0 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 208 |
| Number Of COSMIC SNVs | 13 |
| Optimal Distance Threshold | 32.0 |
| K Statistic | 0.081 |
| p-value | 0.39 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 17:80054287 | K>R | C:12 | (40.91, 32.23, 101.01) | |
| 17:80054252 | D>N | C:24 | (55.01, 29.87, 102.02) | |
| 17:80054249 | N>D | C:25 | (53.14, 28.15, 97.94) | |
| 17:80054246 | rs545413031 COSM708602 |
L>V | C:26 | (54.67, 32.37, 95.71) |
| 17:80054236 | G>A | C:29 | (57.78, 26.92, 93.91) | |
| 17:80054237 | COSM3388322 | G>S | C:29 | (57.78, 26.92, 93.91) |
| 17:80054234 | V>M | C:30 | (54.74, 25.46, 95.08) | |
| 17:80054228 | M>V | C:32 | (49.43, 26.98, 93.59) | |
| 17:80054225 | V>I | C:33 | (47.89, 24.21, 89.53) | |
| 17:80054216 | D>N | C:36 | (42.04, 17.20, 92.26) | |
| 17:80054210 | R>C | C:38 | (39.41, 19.75, 94.92) | |
| 17:80054206 | R>H | C:39 | (35.68, 21.80, 92.84) | |
| 17:80053346 | L>F | C:44 | (34.19, 16.09, 82.56) | |
| 17:80053339 | G>D | C:46 | (37.82, 17.31, 77.89) | |
| 17:80053330 | rs201186614 | R>Q | C:49 | (43.60, 15.94, 84.77) |
| 17:80053331 | COSM417915 | R>W | C:49 | (43.60, 15.94, 84.77) |
| 17:80053324 | S>F | C:51 | (42.73, 23.62, 88.28) | |
| 17:80053322 | G>S | C:52 | (42.78, 26.20, 90.69) | |
| 17:80053299 | R>S | C:59 | (34.51, 24.95, 106.53) | |
| 17:80053280 | G>R | C:66 | (24.17, 36.64, 111.53) | |
| 17:80053271 | P>S | C:69 | (21.65, 28.00, 109.79) | |
| 17:80053255 | T>M | C:74 | (21.32, 29.29, 100.84) | |
| 17:80053219 | T>I | C:86 | (36.53, 41.70, 104.46) | |
| 17:80053220 | rs375732222 | T>A | C:86 | (36.53, 41.70, 104.46) |
| 17:80053199 | rs372842189 | G>R | C:93 | (45.64, 47.14, 109.50) |
| 17:80051645 | I>V | C:95 | (41.75, 48.99, 111.49) | |
| 17:80051642 | N>H | C:96 | (38.23, 47.77, 115.23) | |
| 17:80051635 | D>A | C:98 | (33.54, 48.36, 115.30) | |
| 17:80051615 | T>A | C:105 | (33.18, 53.05, 103.77) | |
| 17:80051596 | V>A | C:111 | (31.93, 39.41, 90.21) | |
| 17:80051590 | rs368154345 | G>V | C:113 | (29.79, 34.64, 88.87) |
| 17:80051591 | rs150035795 | G>S | C:113 | (29.79, 34.64, 88.87) |
| 17:80051578 | S>L | C:117 | (22.05, 31.32, 91.62) | |
| 17:80051573 | A>T | C:119 | (21.78, 25.68, 91.63) | |
| 17:80051563 | rs139728499 | R>Q | C:122 | (18.23, 22.98, 90.98) |
| 17:80051561 | rs374319954 | D>N | C:123 | (13.32, 22.83, 92.30) |
| 17:80051555 | E>K | C:125 | (8.07, 22.22, 93.35) | |
| 17:80051546 | rs146811868 | V>M | C:128 | (14.28, 29.16, 99.08) |
| 17:80051543 | G>S | C:129 | (14.15, 33.07, 98.70) | |
| 17:80051518 | R>Q | C:137 | (26.65, 39.05, 90.04) | |
| 17:80051507 | rs200618103 | A>T | C:141 | (28.47, 44.04, 98.03) |
| 17:80051488 | F>Y | C:147 | (28.64, 42.49, 109.21) | |
| 17:80051483 | D>H | C:149 | (27.34, 49.97, 109.05) | |
| 17:80051287 | rs548430047 | I>V | C:155 | (29.22, 48.67, 93.39) |
| 17:80051284 | A>T | C:156 | (28.98, 44.85, 91.60) | |
| 17:80051276 | rs370854158 | D>E | C:158 | (31.61, 42.16, 85.09) |
| 17:80051235 | Y>C | C:172 | (42.66, 56.20, 93.37) | |
| 17:80051182 | V>I | C:190 | (34.24, 29.85, 92.17) | |
| 17:80051169 | rs150605488 | P>L | C:194 | (31.47, 22.03, 84.44) |
| 17:80051134 | L>V | C:206 | (41.46, 26.74, 78.13) | |
| 17:80051119 | T>A | C:211 | (49.73, 25.77, 82.42) | |
| 17:80051104 | rs144193556 | D>N | C:216 | (57.11, 30.21, 77.09) |
| 17:80051097 | rs566134569 | A>V | C:218 | (54.49, 27.13, 75.04) |
| 17:80050891 | N>K | C:220 | (48.74, 26.87, 74.91) | |
| 17:80050860 | rs200927634 | V>I | C:231 | (42.04, 45.32, 99.74) |
| 17:80050850 | T>I | C:234 | (42.83, 54.17, 103.50) | |
| 17:80050832 | R>Q | C:240 | (47.33, 53.04, 112.18) | |
| 17:80050686 | V>M | C:261 | (35.98, 41.45, 71.03) | |
| 17:80050673 | S>L | C:265 | (45.24, 46.21, 71.96) | |
| 17:80050665 | I>F | C:268 | (44.87, 50.79, 73.53) | |
| 17:80050657 | E>D | C:270 | (51.37, 51.79, 74.59) | |
| 17:80050654 | rs150075575 | Q>H | C:271 | (47.45, 54.57, 74.61) |
| 17:80050646 | R>H | C:274 | (52.55, 56.50, 77.23) | |
| 17:80050647 | rs562846615 | R>C | C:274 | (52.55, 56.50, 77.23) |
| 17:80050643 | rs140748143 | S>L | C:275 | (48.44, 58.04, 80.56) |
| 17:80050634 | Q>R | C:278 | (52.40, 61.20, 81.08) | |
| 17:80050635 | rs376469026 | Q>K | C:278 | (52.40, 61.20, 81.08) |
| 17:80050631 | rs377076774 | S>L | C:279 | (49.24, 61.88, 85.17) |
| 17:80050626 | G>R | C:281 | (54.80, 62.19, 87.49) | |
| 17:80050617 | P>S | C:284 | (59.59, 55.70, 82.85) | |
| 17:80050611 | S>T | C:286 | (60.75, 54.75, 88.33) | |
| 17:80050444 | N>D | C:306 | (55.65, 44.26, 72.49) | |
| 17:80050441 | G>C | C:307 | (53.69, 47.68, 75.02) | |
| 17:80050431 | R>Q | C:310 | (55.49, 50.03, 72.35) | |
| 17:80050429 | A>T | C:311 | (55.80, 52.51, 77.36) | |
| 17:80050420 | rs199604315 | A>T | C:314 | (62.62, 53.75, 75.35) |
| 17:80050413 | R>H | C:316 | (64.52, 51.39, 81.61) | |
| 17:80050414 | R>C | C:316 | (64.52, 51.39, 81.61) | |
| 17:80050375 | M>V | C:329 | (47.45, 30.86, 90.88) | |
| 17:80050365 | P>L | C:332 | (41.88, 34.16, 88.90) | |
| 17:80050336 | A>S | C:342 | (49.19, 39.92, 96.70) | |
| 17:80049539 | G>R | C:351 | (62.41, 41.40, 99.44) | |
| 17:80049500 | P>S | C:364 | (59.72, 34.25, 69.61) | |
| 17:80049487 | A>V | C:368 | (62.78, 42.63, 74.92) | |
| 17:80049472 | R>Q | C:373 | (64.42, 46.01, 75.77) | |
| 17:80049464 | rs370752560 | V>L | C:376 | (61.54, 37.08, 83.35) |
| 17:80049443 | V>I | C:383 | (63.57, 44.38, 96.35) | |
| 17:80049439 | rs201412385 | R>H | C:384 | (68.01, 45.85, 94.99) |
| 17:80049377 | R>G | C:405 | (54.95, 55.54, 96.89) | |
| 17:80049367 | T>M | C:408 | (60.53, 52.10, 102.28) | |
| 17:80049363 | rs202158849 | Q>H | C:409 | (59.12, 53.18, 107.29) |
| 17:80049361 | rs370340494 | P>L | C:410 | (62.52, 52.30, 108.42) |
| 17:80049362 | P>A | C:410 | (62.52, 52.30, 108.42) | |
| 17:80049353 | rs373548684 | A>T | C:413 | (65.20, 53.50, 116.67) |
| 17:80049346 | rs373067136 | A>V | C:415 | (64.77, 52.80, 122.58) |
| 17:80049329 | P>A | C:421 | (57.74, 45.15, 129.78) | |
| 17:80049325 | R>H | C:422 | (55.53, 46.59, 126.02) | |
| 17:80049326 | R>C | C:422 | (55.53, 46.59, 126.02) | |
| 17:80049320 | L>M | C:424 | (49.32, 41.01, 123.91) | |
| 17:80049317 | COSM4070844 | R>W | C:425 | (44.15, 44.02, 123.99) |
| 17:80049314 | A>T | C:426 | (43.35, 38.93, 122.82) | |
| 17:80049299 | rs140653754 | P>S | C:431 | (40.06, 29.05, 122.13) |
| 17:80049290 | rs539939995 | V>M | C:434 | (43.26, 33.68, 121.58) |
| 17:80049286 | Q>R | C:435 | (45.61, 29.79, 121.77) | |
| 17:80049283 | rs374982526 | K>T | C:436 | (47.79, 31.79, 116.45) |
| 17:80049272 | Q>E | C:440 | (52.68, 34.59, 116.39) | |
| 17:80049268 | G>A | C:441 | (53.68, 37.74, 119.82) | |
| 17:80049262 | rs199956437 | R>Q | C:443 | (57.08, 33.53, 117.03) |
| 17:80049263 | R>W | C:443 | (57.08, 33.53, 117.03) | |
| 17:80049251 | rs372691984 | D>N | C:447 | (57.46, 44.21, 116.36) |
| 17:80049224 | D>N | C:456 | (44.45, 48.64, 118.27) | |
| 17:80049221 | I>V | C:457 | (42.44, 44.08, 116.66) | |
| 17:80049217 | rs143812680 | A>V | C:458 | (40.94, 43.44, 120.90) |
| 17:80049218 | rs146838277 | A>T | C:458 | (40.94, 43.44, 120.90) |
| 17:80049214 | rs375823481 | A>V | C:459 | (38.07, 45.74, 121.17) |
| 17:80049206 | rs141275719 | A>T | C:462 | (31.88, 39.03, 124.11) |
| 17:80049200 | A>T | C:464 | (31.38, 38.48, 119.11) | |
| 17:80049193 | P>L | C:466 | (33.58, 34.50, 123.05) | |
| 17:80049190 | F>Y | C:467 | (36.70, 32.45, 123.79) | |
| 17:80049187 | rs368756460 | R>H | C:468 | (38.61, 38.86, 125.88) |
| 17:80049182 | Y>N | C:470 | (46.91, 37.97, 130.03) | |
| 17:80049179 | rs145247848 | A>T | C:471 | (50.38, 38.31, 127.48) |
| 17:80049158 | rs549257982 | G>S | C:478 | (54.72, 33.98, 132.03) |
| 17:80049154 | rs149982597 | G>V | C:479 | (51.93, 33.26, 130.14) |
| 17:80049139 | Q>P | C:484 | (34.26, 31.74, 127.91) | |
| 17:80049131 | rs372434423 | A>T | C:487 | (28.33, 38.31, 128.86) |
| 17:80049125 | rs62642482 | E>K | C:489 | (27.05, 45.94, 132.22) |
| 17:80049121 | rs368171697 | R>H | C:490 | (31.66, 42.74, 134.88) |
| 17:80049122 | rs533081221 COSM1387414 |
R>C | C:490 | (31.66, 42.74, 134.88) |
| 17:80049119 | rs375289808 | P>S | C:491 | (30.38, 47.11, 137.10) |
| 17:80049116 | L>F | C:492 | (35.03, 49.66, 136.99) | |
| 17:80048928 | R>C | C:504 | (62.43, 48.75, 151.54) | |
| 17:80048925 | G>R | C:505 | (60.43, 50.66, 147.00) | |
| 17:80048904 | R>C | C:512 | (60.40, 50.90, 134.44) | |
| 17:80048894 | R>H | C:515 | (50.96, 59.01, 131.49) | |
| 17:80048895 | rs199746221 | R>C | C:515 | (50.96, 59.01, 131.49) |
| 17:80048888 | rs200374835 | R>Q | C:517 | (58.49, 59.83, 134.74) |
| 17:80048873 | rs139785047 | R>H | C:522 | (52.27, 65.91, 138.32) |
| 17:80048874 | rs368896751 | R>C | C:522 | (52.27, 65.91, 138.32) |
| 17:80048868 | rs147394389 | D>N | C:524 | (57.88, 65.64, 143.75) |
| 17:80048862 | A>S | C:526 | (53.70, 69.91, 145.79) | |
| 17:80048859 | rs200000001 | V>M | C:527 | (55.93, 68.39, 148.49) |
| 17:80048852 | P>L | C:529 | (57.71, 73.51, 149.39) | |
| 17:80048846 | G>D | C:531 | (61.30, 69.05, 151.83) | |
| 17:80048847 | G>S | C:531 | (61.30, 69.05, 151.83) | |
| 17:80048839 | K>N | C:533 | (61.96, 64.79, 146.04) | |
| 17:80048834 | S>L | C:535 | (61.19, 60.51, 144.07) | |
| 17:80048832 | Q>E | C:536 | (64.57, 60.70, 146.62) | |
| 17:80048811 | rs202040392 | E>K | C:543 | (62.70, 49.66, 156.50) |
| 17:80048804 | T>I | C:545 | (61.40, 56.27, 155.31) | |
| 17:80048802 | F>V | C:546 | (57.76, 54.87, 154.07) | |
| 17:80048799 | D>N | C:547 | (58.29, 54.51, 160.28) | |
| 17:80048792 | I>T | C:549 | (53.07, 60.06, 159.49) | |
| 17:80048793 | I>V | C:549 | (53.07, 60.06, 159.49) | |
| 17:80048790 | V>I | C:550 | (54.60, 62.94, 156.30) | |
| 17:80048766 | A>S | C:558 | (51.24, 59.59, 144.96) | |
| 17:80048439 | rs148219546 | I>T | C:561 | (47.48, 60.09, 142.11) |
| 17:80048434 | L>F | C:563 | (47.98, 53.67, 139.97) | |
| 17:80048427 | D>V | C:565 | (46.94, 59.07, 136.24) | |
| 17:80048416 | C>G | C:569 | (45.40, 56.64, 129.92) | |
| 17:80048413 | M>L | C:570 | (43.80, 52.84, 129.66) | |
| 17:80048409 | rs143978140 | G>E | C:571 | (39.60, 55.24, 129.70) |
| 17:80048410 | G>R | C:571 | (39.60, 55.24, 129.70) | |
| 17:80048398 | D>N | C:575 | (30.97, 52.76, 137.45) | |
| 17:80048353 | rs376743967 | A>T | C:590 | (39.01, 59.82, 141.16) |
| 17:80048347 | rs149454216 | G>S | C:592 | (37.04, 65.39, 140.65) |
| 17:80048332 | rs527938822 | E>K | C:597 | (48.10, 69.74, 143.00) |
| 17:80048323 | rs137937996 | V>I | C:600 | (49.49, 65.78, 147.69) |
| 17:80048308 | W>R | C:605 | (49.65, 70.75, 155.98) | |
| 17:80048284 | rs201599253 | A>T | C:613 | (51.22, 67.46, 167.67) |
| 17:80048281 | rs140698052 | H>Y | C:614 | (54.43, 66.89, 169.92) |
| 17:80048271 | rs45444391 | P>L | C:617 | (52.21, 57.04, 172.76) |
| 17:80048272 | P>T | C:617 | (52.21, 57.04, 172.76) | |
| 17:80048266 | A>T | C:619 | (47.97, 52.33, 168.50) | |
| 17:80047583 | C>W | C:630 | (35.38, 45.02, 169.91) | |
| 17:80047585 | C>S | C:630 | (35.38, 45.02, 169.91) | |
| 17:80047578 | Q>L | C:632 | (32.00, 43.06, 174.64) | |
| 17:80047576 | rs200141857 | R>C | C:633 | (36.43, 41.35, 174.74) |
| 17:80047566 | P>L | C:636 | (39.63, 51.20, 178.96) | |
| 17:80047567 | P>S | C:636 | (39.63, 51.20, 178.96) | |
| 17:80047564 | rs569360175 | G>R | C:637 | (40.58, 53.78, 175.29) |
| 17:80047558 | V>M | C:639 | (38.04, 52.30, 169.80) | |
| 17:80047256 | rs200575117 | P>L | C:657 | (46.28, 49.68, 176.30) |
| 17:80047247 | E>V | C:660 | (48.35, 44.12, 177.58) | |
| 17:80047200 | R>W | C:676 | (54.20, 50.58, 159.44) | |
| 17:80047194 | G>S | C:678 | (53.74, 56.40, 164.15) | |
| 17:80047151 | P>L | C:692 | (41.49, 72.44, 165.04) | |
| 17:80047148 | P>L | C:693 | (44.89, 72.57, 163.43) | |
| 17:80047048 | rs201027447 | V>L | C:701 | (44.51, 73.37, 150.27) |
| 17:80047041 | rs145694238 | R>Q | C:703 | (41.10, 78.81, 148.67) |
| 17:80047042 | R>W | C:703 | (41.10, 78.81, 148.67) | |
| 17:80047039 | E>K | C:704 | (36.93, 76.67, 144.99) | |
| 17:80047029 | rs144627566 | P>L | C:707 | (30.63, 68.27, 144.14) |
| 17:80047000 | rs139717954 | I>V | C:717 | (30.00, 60.07, 156.37) |
| 17:80046994 | rs12946178 | E>K | C:719 | (23.83, 55.09, 154.11) |
| 17:80046990 | A>V | C:720 | (22.26, 58.36, 157.01) | |
| 17:80046975 | S>I | C:725 | (26.20, 69.53, 154.13) | |
| 17:80046966 | R>H | C:728 | (27.90, 69.37, 148.73) | |
| 17:80046963 | rs202169855 | T>M | C:729 | (31.84, 68.73, 149.45) |
| 17:80046964 | T>A | C:729 | (31.84, 68.73, 149.45) | |
| 17:80046960 | COSM1522766 | S>F | C:730 | (35.96, 67.20, 149.19) |
| 17:80046955 | A>P | C:732 | (38.24, 70.51, 154.86) | |
| 17:80046898 | H>Y | C:751 | (25.88, 49.84, 148.83) | |
| 17:80046895 | V>M | C:752 | (29.22, 46.67, 145.34) | |
| 17:80046886 | H>Y | C:755 | (28.23, 40.20, 138.02) | |
| 17:80046883 | rs150531044 | A>T | C:756 | (31.91, 43.70, 139.82) |
| 17:80046862 | P>S | C:763 | (51.04, 50.24, 147.15) | |
| 17:80046856 | A>S | C:765 | (46.99, 44.39, 147.96) | |
| 17:80046742 | K>R | C:772 | (37.83, 38.35, 148.24) | |
| 17:80046739 | R>H | C:773 | (33.10, 38.09, 153.94) | |
| 17:80046727 | rs554712541 | P>R | C:777 | (30.18, 36.15, 145.24) |
| 17:80046723 | S>R | C:778 | (29.92, 38.04, 141.32) | |
| 17:80046662 | rs375653664 | G>S | C:799 | (45.86, 43.30, 135.55) |
| 17:80046659 | I>V | C:800 | (45.52, 45.73, 132.77) | |
| 17:80046638 | rs536230471 | G>S | C:807 | (35.18, 42.82, 129.67) |
| 17:80046434 | D>N | C:809 | (37.64, 47.48, 126.90) | |
| 17:80046410 | rs370847437 | P>S | C:817 | (55.63, 55.25, 124.01) |
| 17:80046406 | P>R | C:818 | (53.37, 56.76, 120.87) | |
| 17:80046407 | P>S | C:818 | (53.37, 56.76, 120.87) | |
| 17:80046397 | F>Y | C:821 | (51.66, 53.96, 112.98) | |
| 17:80046392 | A>T | C:823 | (54.44, 50.55, 109.83) | |
| 17:80046385 | R>Q | C:825 | (59.95, 47.42, 104.40) | |
| 17:80046383 | G>R | C:826 | (57.69, 43.83, 107.61) | |
| 17:80046337 | rs564753436 | A>V | C:841 | (29.77, 22.03, 106.82) |
| 17:80046329 | V>M | C:844 | (28.91, 23.42, 98.22) | |
| 17:80046325 | P>L | C:845 | (27.30, 23.73, 94.88) | |
| 17:80046320 | A>T | C:847 | (28.50, 19.15, 89.38) | |
| 17:80046317 | rs141532672 | E>K | C:848 | (25.23, 16.19, 90.52) |
| 17:80046307 | P>L | C:851 | (22.79, 21.46, 83.58) | |
| 17:80046304 | rs540009159 | N>S | C:852 | (24.07, 16.85, 81.95) |
| 17:80046301 | rs185050201 | G>V | C:853 | (22.05, 17.04, 78.76) |
| 17:80046302 | G>S | C:853 | (22.05, 17.04, 78.76) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 17:80053328 | COSM986045 | R>W | C:50 | (46.87, 21.50, 85.77) |
| 17:80051491 | COSM3717787 | F>S | C:146 | (23.66, 44.39, 106.57) |
| 17:80050341 | COSM1387418 | A>V | C:340 | (48.65, 40.16, 91.63) |
| 17:80049440 | COSM1387417 | R>C | C:384 | (68.01, 45.85, 94.99) |
| 17:80049433 | COSM1611002 | G>V | C:386 | (60.66, 51.30, 93.11) |
| 17:80049304 | COSM1387415 | R>H | C:429 | (34.20, 33.41, 117.27) |
| 17:80049217 | COSM4070843 | A>V | C:458 | (40.94, 43.44, 120.90) |
| 17:80049122 | COSM1387414 | R>C | C:490 | (31.66, 42.74, 134.88) |
| 17:80048932 | COSM1387413 | Q>H | C:502 | (53.55, 51.37, 153.93) |
| 17:80048337 | COSM4472454 | S>F | C:595 | (43.67, 68.56, 142.47) |
| 17:80048256 | COSM1387411 | A>V | C:622 | (44.30, 44.01, 163.32) |
| 17:80047180 | COSM1611001 | F>L | C:682 | (45.55, 57.16, 162.89) |
| 17:80046970 | COSM2806216 | A>S | C:727 | (28.81, 64.85, 152.26) |
| 17:80046431 | COSM1387410 | A>T | C:810 | (42.11, 48.40, 128.32) |