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input.targeted.savi.txt
1986 lines (1986 loc) · 265 KB
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input.targeted.savi.txt
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chr pos ref alt Effect Effect_Impact Functional_Class Codon_Change Amino_Acid_Change Amino_Acid_length Gene_Name Sgt1_max_frequency totdepth_Blood totdepth_Tumor Blood_freq Tumor_freq refdepth_Blood altdepth_Blood refdepth_Tumor altdepth_Tumor CaseID varPrefix varSurffix SequencingPlatform
chr1 16895623 G A synonymous_variant LOW SILENT agC/agT S853 1140 NBPF1 13 5709 1141 0 13 5709 0 988 153 104 C C targeted
chr1 16912063 T A missense_variant MODERATE MISSENSE aaA/aaT K303N 1140 NBPF1 11 1746 378 0 12 1744 0 334 44 104 G T targeted
chr1 16912133 G A missense_variant MODERATE MISSENSE tCc/tTc S280F 1140 NBPF1 10 2649 592 0 10 2648 0 529 62 104 G A targeted
chr1 145298281 T C synonymous_variant, intron_variant, intron_variant, intragenic_variant LOW, MODIFIER, MODIFIER, MODIFIER SILENT, -, -, - ttT/ttC, -, -, - F231, -, -, - 3626, 4963, 1110, - NBPF10, NBPF20, NBPF9, NBPF25P 11 3881 743 0 11 3880 0 658 85 104 T G targeted
chr11 92568029 T C splice_region_variant+intron_variant LOW - - - 4557 FAT3 47 2238 402 0 48 2237 1 211 191 104 C T targeted
chr11 117302415 C A missense_variant MODERATE MISSENSE Gcc/Tcc A1797S 2113 DSCAML1 86 1193 106 0 87 1193 0 14 92 104 G T targeted
chr12 70965643 C T missense_variant MODERATE MISSENSE Gga/Aga G1023R 2215 PTPRB 38 3228 457 0 39 3228 0 281 176 104 C A targeted
chr14 104646122 G A missense_variant MODERATE MISSENSE Gtc/Atc V1882I 1882 KIF26A 46 429 65 0 46 429 0 35 30 104 C T targeted
chr15 22742777 G A missense_variant, missense_variant MODERATE, MODERATE MISSENSE, MISSENSE Gag/Aag, Gag/Aag E388K, E376K 668, 656 GOLGA6L1, GOLGA6L22 16 821 181 0 16 820 0 150 29 104 C A targeted
chr15 90631839 T A missense_variant MODERATE MISSENSE Agg/Tgg R172W 452 IDH2 42 599 80 0 42 599 0 46 34 104 C G targeted
chr17 7577121 G A missense_variant MODERATE MISSENSE Cgt/Tgt R273C 393 TP53 85 1647 222 0 85 1647 0 33 189 104 C C targeted
chr17 33690250 T G missense_variant MODERATE MISSENSE Att/Ctt I193L 901 SLFN11 32 353 49 0 33 352 1 33 16 104 A T targeted
chr17 33768953 C G synonymous_variant LOW SILENT ctG/ctC L517 897 SLFN13 27 1303 216 0 27 1303 0 157 59 104 T A targeted
chr19 9060536 G A synonymous_variant LOW SILENT gtC/gtT V8970 14507 MUC16 63 1974 244 0 64 1974 0 89 155 104 T A targeted
chr19 40408570 C T synonymous_variant LOW SILENT gtG/gtA V1423 5405 FCGBP 58 1871 250 0 59 1869 0 103 147 104 G A targeted
chr2 84861682 G C missense_variant MODERATE MISSENSE Gat/Cat D1524H 4158 DNAH6 42 2651 485 0 43 2649 1 278 207 104 T A targeted
chr2 209113151 C T missense_variant MODERATE MISSENSE cGg/cAg R119Q 414 IDH1 50 2401 409 0 51 2401 0 201 208 104 C G targeted
chr3 155311815 G A missense_variant MODERATE MISSENSE Cgc/Tgc R117C 1693 PLCH1 25 1773 296 0 26 1772 1 220 76 104 C G targeted
chr4 114274517 T C synonymous_variant LOW SILENT tcT/tcC S1581 3957 ANK2 91 2408 436 0 92 2408 0 35 401 104 C C targeted
chr7 92244520 C A missense_variant MODERATE MISSENSE agG/agT R305S 326 CDK6 29 1136 368 0 29 1135 1 261 107 104 A C targeted
chr7 100187400 G A missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - cGg/cAg, - R46Q, - 618, - FBXO24, PCOLCE-AS1 28 544 200 0 28 544 0 144 56 104 C G targeted
chr7 100638433 C T missense_variant MODERATE MISSENSE aCg/aTg T1530M 5335 MUC12 35 264 118 0 36 264 0 76 42 104 A G targeted
chr7 100640121 A C missense_variant MODERATE MISSENSE Acc/Ccc T2093P 5335 MUC12 28 398 80 0 29 398 0 57 23 104 C C targeted
chr7 100641812 G A synonymous_variant LOW SILENT gaG/gaA E2656 5335 MUC12 9 1373 517 0 10 1373 0 466 50 104 A G targeted
chr7 100643104 C T missense_variant MODERATE MISSENSE aCg/aTg T3087M 5335 MUC12 12 823 332 0 12 822 1 292 40 104 A G targeted
chr7 100643117 G A synonymous_variant LOW SILENT gcG/gcA A3091 5335 MUC12 12 1154 456 0 13 1153 1 397 58 104 C T targeted
chr7 100644050 C G synonymous_variant LOW SILENT ggC/ggG G3402 5335 MUC12 11 4070 1427 0 11 4069 0 1266 161 104 G C targeted
chr7 100644379 C G missense_variant MODERATE MISSENSE aCg/aGg T3512R 5335 MUC12 10 2379 104 0 11 2378 1 93 11 104 A G targeted
chr7 142640596 T G synonymous_variant LOW SILENT ccA/ccC P560 732 KEL 78 1154 486 0 79 1154 0 103 383 104 A G targeted
chr8 18622989 C G missense_variant MODERATE MISSENSE gaG/gaC E714D 1047 PSD3 64 3446 561 0 65 3446 0 199 362 104 C T targeted
chr1 152081490 G A synonymous_variant LOW SILENT tgC/tgT C1401 1943 TCHH 55 2704 179 0 56 2701 0 79 100 1068 G C targeted
chr10 22022898 G A missense_variant MODERATE MISSENSE Gga/Aga G900R 1068 MLLT10 48 2111 191 0 49 2111 0 98 93 1068 T G targeted
chr10 95123713 C T splice_region_variant+intron_variant LOW - - - 2061 MYOF 50 1441 110 0 50 1441 0 55 55 1068 A T targeted
chr11 108224533 G A synonymous_variant LOW SILENT gaG/gaA E2904 3056 ATM 49 3377 406 0 50 3377 0 204 202 1068 A A targeted
chr12 18515821 G A splice_donor_variant+intron_variant HIGH - - - 1486 PIK3C2G 46 2308 247 0 46 2307 1 133 114 1068 C T targeted
chr12 112926888 G T missense_variant MODERATE MISSENSE gGg/gTg G503V 593 PTPN11 27 1917 223 0 27 1916 1 162 61 1068 G G targeted
chr19 9033653 C T missense_variant MODERATE MISSENSE gGt/gAt G12095D 14507 MUC16 26 1915 163 0 27 1915 0 119 44 1068 A C targeted
chr19 42795243 C A missense_variant MODERATE MISSENSE Ccc/Acc P775T 1608 CIC 54 822 50 0 54 822 0 23 27 1068 G C targeted
chr2 190719625 G A missense_variant MODERATE MISSENSE Gaa/Aaa E543K 932 PMS1 50 2466 279 0 50 2464 1 139 140 1068 T A targeted
chr2 209113112 C T missense_variant MODERATE MISSENSE cGt/cAt R132H 414 IDH1 27 2534 278 0 28 2533 1 201 77 1068 A G targeted
chr21 10921939 C T missense_variant MODERATE MISSENSE Gca/Aca A362T 551 TPTE 15 5445 477 0 16 5443 1 402 75 1068 G A targeted
chr22 41572865 A G missense_variant MODERATE MISSENSE aAc/aGc N1717S 2414 EP300 50 2777 252 0 50 2776 0 126 126 1068 A C targeted
chr3 178936095 A G missense_variant MODERATE MISSENSE cAg/cGg Q546R 1068 PIK3CA 25 1298 180 0 25 1298 0 135 45 1068 C G targeted
chr5 80057460 A C missense_variant MODERATE MISSENSE gAc/gCc D620A 1137 MSH3 49 2529 286 0 49 2528 1 145 141 1068 G C targeted
chr7 94057024 G C missense_variant MODERATE MISSENSE aGg/aCg R1118T 1366 COL1A2 55 2292 240 0 56 2291 1 106 134 1068 A G targeted
chr7 100634113 C A missense_variant MODERATE MISSENSE gCa/gAa A90E 5335 MUC12 51 3273 311 0 51 3273 0 151 160 1068 G A targeted
chr7 100643959 C T missense_variant MODERATE MISSENSE aCa/aTa T3372I 5335 MUC12 24 7135 908 0 24 7135 0 688 220 1068 A A targeted
chr7 100675354 A G synonymous_variant LOW SILENT acA/acG T219 4493 MUC17 47 3567 367 0 47 3564 0 193 174 1068 C A targeted
chr8 103573042 G A missense_variant MODERATE MISSENSE aGc/aAc S228N 250 ODF1 42 2419 264 0 42 2419 0 126 112 1068 A C targeted
chr9 116267732 C T missense_variant MODERATE MISSENSE cCg/cTg P303L 1198 RGS3 48 1421 137 0 49 1420 0 70 67 1068 C G targeted
chrX 64958824 C T splice_region_variant+intron_variant LOW - - - 577 MSN 100 1413 89 0 100 1411 1 0 89 1068 A T targeted
chr1 1847899 A G missense_variant MODERATE MISSENSE gAg/gGg E33G 181 CALML6 50 45 18 0 50 45 0 9 9 109 G G targeted
chr1 16890586 G C missense_variant MODERATE MISSENSE cCt/cGt P1092R 1140 NBPF1 12 6970 702 0 13 6970 0 612 89 109 A G targeted
chr1 16895623 G A synonymous_variant LOW SILENT agC/agT S853 1140 NBPF1 11 5709 479 0 12 5709 0 423 56 109 C C targeted
chr1 152188128 G A stop_gained HIGH NONSENSE Cga/Tga R1993* 2850 HRNR 12 7965 2093 0 12 7961 1 1838 254 109 C G targeted
chr1 222803274 C T synonymous_variant LOW SILENT ttC/ttT F904 1907 MIA3 47 2459 187 0 48 2459 0 98 89 109 T C targeted
chr1 228399974 G A missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - Ggc/Agc, - G164S, - 8923, - OBSCN, C1orf145 40 109 25 0 40 109 0 15 10 109 C G targeted
chr1 228447313 C G missense_variant MODERATE MISSENSE aCt/aGt T1658S 8923 OBSCN 49 2977 1076 0 49 2977 0 544 532 109 A T targeted
chr12 124408866 G A missense_variant MODERATE MISSENSE Gct/Act A3767T 4471 DNAH10 44 2320 272 0 45 2319 1 150 122 109 C C targeted
chr15 20743964 C T missense_variant+splice_region_variant MODERATE MISSENSE Gaa/Aaa E98K 722 GOLGA6L6 44 243 34 0 44 243 0 19 15 109 T C targeted
chr17 7578508 C T missense_variant MODERATE MISSENSE tGc/tAc C141Y 393 TP53 39 1161 505 0 39 1160 0 308 197 109 G A targeted
chr17 36339678 G A missense_variant, missense_variant, missense_variant, missense_variant, missense_variant, missense_variant, missense_variant, missense_variant, missense_variant, missense_variant MODERATE, MODERATE, MODERATE, MODERATE, MODERATE, MODERATE, MODERATE, MODERATE, MODERATE, MODERATE MISSENSE, MISSENSE, MISSENSE, MISSENSE, MISSENSE, MISSENSE, MISSENSE, MISSENSE, MISSENSE, MISSENSE Cgg/Tgg, Cgg/Tgg, Cgg/Tgg, Cgg/Tgg, Cgg/Tgg, Cgg/Tgg, Cgg/Tgg, Cgg/Tgg, Cgg/Tgg, Cgg/Tgg R327W, R327W, R327W, R327W, R327W, R327W, R327W, R327W, R327W, R327W 549, 549, 549, 549, 549, 549, 549, 549, 549, 549 TBC1D3, TBC1D3H, LOC102723859, LOC101060321, LOC102724862, LOC101060351, LOC101060389, LOC101060376, TBC1D3F, TBC1D3C 10 650 380 0 11 650 0 339 41 109 C G targeted
chr19 55870486 C T missense_variant MODERATE MISSENSE Ggg/Agg G584R 922 FAM71E2 61 1487 522 0 61 1487 0 201 321 109 C T targeted
chr2 227662753 C T synonymous_variant LOW SILENT ggG/ggA G234 1242 IRS1 39 122 68 0 40 122 0 41 27 109 C C targeted
chr3 142279252 G T missense_variant MODERATE MISSENSE gCa/gAa A465E 2644 ATR 64 2258 276 0 65 2258 0 97 179 109 T C targeted
chr6 136597282 G T missense_variant MODERATE MISSENSE Ctt/Att L461I 920 BCLAF1 19 5279 562 0 20 5278 1 452 110 109 A T targeted
chr7 100641083 T C synonymous_variant LOW SILENT agT/agC S2413 5335 MUC12 43 98 16 0 44 98 0 9 7 109 G C targeted
chr7 100641494 C T synonymous_variant LOW SILENT acC/acT T2550 5335 MUC12 13 2954 52 0 13 2954 0 45 7 109 C T targeted
chr7 100642560 C G missense_variant MODERATE MISSENSE Ctc/Gtc L2906V 5335 MUC12 10 4076 49 0 10 4074 1 44 5 109 C T targeted
chr7 100642572 C T missense_variant MODERATE MISSENSE Cct/Tct P2910S 5335 MUC12 18 4032 48 0 19 4030 1 39 9 109 A C targeted
chr7 100642601 A C synonymous_variant LOW SILENT tcA/tcC S2919 5335 MUC12 18 3583 49 0 18 3579 1 40 9 109 C A targeted
chr7 100642607 G C missense_variant MODERATE MISSENSE gaG/gaC E2921D 5335 MUC12 17 3496 45 0 18 3495 1 37 8 109 A G targeted
chr7 100642608 G A missense_variant MODERATE MISSENSE Gca/Aca A2922T 5335 MUC12 16 3479 48 0 17 3477 1 40 8 109 G C targeted
chr7 100644104 A G missense_variant MODERATE MISSENSE atA/atG I3420M 5335 MUC12 10 2080 553 0 10 2079 0 495 58 109 T G targeted
chr7 100647141 C T missense_variant MODERATE MISSENSE Cgt/Tgt R4433C 5335 MUC12 16 2906 1759 0 16 2905 0 1472 287 109 C G targeted
chr7 140453136 A T missense_variant MODERATE MISSENSE gTg/gAg V600E 766 BRAF 23 2454 238 0 24 2451 1 182 56 109 C C targeted
chr9 8486098 T C missense_variant MODERATE MISSENSE Atg/Gtg M907V 1912 PTPRD 39 3473 308 0 40 3473 0 183 123 109 A C targeted
chrX 76938208 A G missense_variant MODERATE MISSENSE tTt/tCt F847S 2492 ATRX 99 2316 180 0 99 2315 0 1 179 109 A A targeted
chr1 51253771 A G missense_variant MODERATE MISSENSE Tcc/Ccc S90P 650 FAF1 73 2193 256 0 73 2192 0 69 187 1099 G T targeted
chr1 144621626 G A missense_variant, missense_variant, intron_variant MODERATE, MODERATE, MODIFIER MISSENSE, MISSENSE, - Ggc/Agc, Ggc/Agc, - G319S, G319S, - 941, 1110, 4963 NBPF8, NBPF9, NBPF20 9 2892 587 0 10 2850 0 521 56 1099 C G targeted
chr1 145349628 A C missense_variant, missense_variant, intron_variant, intragenic_variant MODERATE, MODERATE, MODIFIER, MODIFIER MISSENSE, MISSENSE, -, - tAt/tCt, tAt/tCt, -, - Y3197S, Y2348S, -, - 4963, 3626, 1110, - NBPF20, NBPF10, NBPF9, NBPF25P 91 36 12 0 92 36 0 1 11 1099 T T targeted
chr1 228474494 C T missense_variant MODERATE MISSENSE Cgg/Tgg R3529W 8923 OBSCN 45 865 131 0 46 865 0 71 60 1099 C G targeted
chr1 248525347 C T synonymous_variant LOW SILENT taC/taT Y155 348 OR2T4 38 1799 376 0 39 1799 0 231 145 1099 A G targeted
chr10 22015248 G T missense_variant MODERATE MISSENSE Gca/Tca A652S 1068 MLLT10 9 2989 611 0 10 2987 1 551 60 1099 G C targeted
chr10 22015249 C T missense_variant MODERATE MISSENSE gCa/gTa A652V 1068 MLLT10 9 2995 616 0 10 2994 0 556 60 1099 G A targeted
chr13 35644867 G A synonymous_variant LOW SILENT gcG/gcA A483 2946 NBEA 21 2406 346 0 22 2406 0 270 76 1099 C A targeted
chr19 9047895 C T missense_variant MODERATE MISSENSE Gca/Aca A11246T 14507 MUC16 44 2472 413 0 44 2472 0 230 183 1099 G T targeted
chr19 9084513 G A synonymous_variant LOW SILENT acC/acT T2434 14507 MUC16 49 2569 514 0 49 2568 0 262 252 1099 A G targeted
chr21 10921939 C T missense_variant MODERATE MISSENSE Gca/Aca A362T 551 TPTE 10 5445 556 0 10 5443 1 498 58 1099 G A targeted
chr21 43854996 G T missense_variant MODERATE MISSENSE cGt/cTt R442L 661 UBASH3A 41 2301 388 0 42 2300 0 226 162 1099 C T targeted
chr5 79974783 G A missense_variant MODERATE MISSENSE aGt/aAt S404N 1137 MSH3 52 2260 383 0 52 2259 1 183 200 1099 A T targeted
chr6 51768819 T C missense_variant MODERATE MISSENSE tAt/tGt Y2277C 4074 PKHD1 77 2977 446 0 77 2975 0 101 345 1099 A A targeted
chr7 100681632 C A missense_variant MODERATE MISSENSE aCt/aAt T2312N 4493 MUC17 48 3956 835 0 49 3956 0 429 406 1099 A T targeted
chr8 144942066 C T missense_variant MODERATE MISSENSE Gtg/Atg V1786M 2420 EPPK1 81 2962 528 0 82 2962 0 96 432 1099 A G targeted
chr9 135771906 A G missense_variant MODERATE MISSENSE Tct/Cct S1071P 1164 TSC1 44 1451 278 0 44 1451 0 155 123 1099 G C targeted
chrX 71131125 G A missense_variant MODERATE MISSENSE cGc/cAc R63H 1225 NHSL2 100 247 19 0 100 247 0 0 19 1099 C C targeted
chr1 16907980 G A synonymous_variant LOW SILENT gaC/gaT D438 1140 NBPF1 12 9166 1510 0 12 9165 1 1328 182 1105 C T targeted
chr1 145281529 C T synonymous_variant, intron_variant, intron_variant LOW, MODIFIER, MODIFIER SILENT, -, - tgC/tgT, -, - C153, -, - 236, 4963, 1110 NOTCH2NL, NBPF20, NBPF9 15 4862 644 0 16 4861 0 542 102 1105 G C targeted
chr1 145293420 C T synonymous_variant, intron_variant, intron_variant, intragenic_variant LOW, MODIFIER, MODIFIER, MODIFIER SILENT, -, -, - gcC/gcT, -, -, - A5, -, -, - 3626, 4963, 1110, - NBPF10, NBPF20, NBPF9, NBPF25P 15 7025 991 0 16 7024 0 837 154 1105 C G targeted
chr1 215812580 G C missense_variant+splice_region_variant MODERATE MISSENSE aCc/aGc T4990S 5202 USH2A 48 1985 279 0 48 1985 0 144 135 1105 G C targeted
chr1 215987206 T C missense_variant MODERATE MISSENSE cAt/cGt H3204R 5202 USH2A 45 2148 324 0 45 2145 0 177 147 1105 A G targeted
chr1 228456244 G A synonymous_variant LOW SILENT gtG/gtA V1809 8923 OBSCN 51 2507 383 0 51 2506 0 186 197 1105 T T targeted
chr1 248366722 T C missense_variant MODERATE MISSENSE aTg/aCg M118T 312 OR2M3 50 3147 471 0 50 3146 0 233 237 1105 A G targeted
chr10 95185820 C A splice_region_variant+intron_variant LOW - - - 2061 MYOF 28 759 118 0 29 759 0 84 34 1105 T A targeted
chr11 62291621 T C missense_variant MODERATE MISSENSE aAt/aGt N3423S 5890 AHNAK 49 3760 621 0 49 3759 0 316 305 1105 A T targeted
chr17 7578211 C T missense_variant MODERATE MISSENSE cGa/cAa R213Q 393 TP53 27 1720 281 0 27 1720 0 204 77 1105 T G targeted
chr17 7578406 C T missense_variant MODERATE MISSENSE cGc/cAc R175H 393 TP53 23 1518 264 0 23 1518 0 202 62 1105 G G targeted
chr17 10295923 C T missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - cGt/cAt, - R1835H, - 1937, - MYH8, MYHAS 46 2312 348 0 47 2311 0 186 162 1105 A G targeted
chr17 10295935 T C missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - aAt/aGt, - N1831S, - 1937, - MYH8, MYHAS 46 2326 341 0 46 2326 0 183 158 1105 A T targeted
chr2 25464533 G C stop_gained HIGH NONSENSE taC/taG Y660* 912 DNMT3A 25 937 168 0 26 937 0 125 43 1105 T T targeted
chr2 209113112 C T missense_variant MODERATE MISSENSE cGt/cAt R132H 414 IDH1 28 2534 383 0 28 2533 1 274 109 1105 A G targeted
chr3 10133925 A G missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - Aac/Gac, - N1280D, - 1471, - FANCD2, FANCD2OS 48 2735 418 0 49 2732 0 214 204 1105 C A targeted
chr6 136599101 T G synonymous_variant LOW SILENT gcA/gcC A306 920 BCLAF1 25 5269 827 0 25 5268 0 618 209 1105 G G targeted
chr7 100682252 A G missense_variant MODERATE MISSENSE Agt/Ggt S2519G 4493 MUC17 50 4439 705 0 50 4435 0 350 355 1105 A G targeted
chr9 139393447 G C splice_region_variant+synonymous_variant LOW SILENT ggC/ggG G2028 2555 NOTCH1 52 1907 342 0 53 1906 0 162 180 1105 T C targeted
chrX 76875886 G A missense_variant MODERATE MISSENSE cCa/cTa P1750L 2492 ATRX 54 1614 164 0 54 1614 0 75 89 1105 T G targeted
chr1 16890607 G A missense_variant MODERATE MISSENSE cCg/cTg P1085L 1140 NBPF1 11 6588 1100 0 12 6588 0 973 127 1129 C G targeted
chr1 16890677 T C missense_variant MODERATE MISSENSE Agc/Ggc S1062G 1140 NBPF1 10 5562 947 0 10 5559 0 849 98 1129 C G targeted
chr1 16893854 A C splice_region_variant+intron_variant LOW - - - 1140 NBPF1 18 4546 764 0 18 4545 0 623 141 1129 C G targeted
chr1 120548195 A G synonymous_variant LOW SILENT Ttg/Ctg L58 2471 NOTCH2 47 1285 153 0 47 1284 0 81 72 1129 A G targeted
chr1 145304503 C T missense_variant, intron_variant, intron_variant, intragenic_variant MODERATE, MODIFIER, MODIFIER, MODIFIER MISSENSE, -, -, - gCc/gTc, -, -, - A479V, -, -, - 3626, 4963, 1110, - NBPF10, NBPF20, NBPF9, NBPF25P 20 3598 530 0 21 3597 1 420 110 1129 G C targeted
chr1 145326115 G T missense_variant, intron_variant, intron_variant, intragenic_variant MODERATE, MODIFIER, MODIFIER, MODIFIER MISSENSE, -, -, - Gac/Tac, -, -, - D1405Y, -, -, - 3626, 4963, 1110, - NBPF10, NBPF20, NBPF9, NBPF25P 35 215 34 0 35 215 0 22 12 1129 T A targeted
chr1 152187575 G A missense_variant MODERATE MISSENSE tCt/tTt S2177F 2850 HRNR 32 8109 699 0 32 8109 0 472 227 1129 A A targeted
chr1 152187694 G T synonymous_variant LOW SILENT ggC/ggA G2137 2850 HRNR 25 8412 636 0 25 8411 0 474 161 1129 A C targeted
chr1 152191343 C T missense_variant MODERATE MISSENSE cGa/cAa R921Q 2850 HRNR 10 4081 340 0 10 4077 0 305 35 1129 T G targeted
chr1 222801940 G A missense_variant MODERATE MISSENSE Gca/Aca A460T 1907 MIA3 62 1849 260 0 62 1849 0 98 162 1129 C C targeted
chr1 228496872 G T missense_variant MODERATE MISSENSE tGc/tTc C5228F 8923 OBSCN 11 666 94 0 12 666 0 83 11 1129 T C targeted
chr1 228526724 G T missense_variant MODERATE MISSENSE aGc/aTc S6709I 8923 OBSCN 53 138 15 0 53 137 0 7 8 1129 A C targeted
chr11 1074927 C T missense_variant MODERATE MISSENSE gCg/gTg A9V 2813 MUC2 85 601 41 0 85 601 0 6 35 1129 G G targeted
chr11 1256572 A G missense_variant MODERATE MISSENSE Atc/Gtc I937V 5762 MUC5B 79 1902 120 0 79 1902 0 25 95 1129 C T targeted
chr11 92533462 G A missense_variant MODERATE MISSENSE cGg/cAg R2428Q 4557 FAT3 40 3117 410 0 40 3116 0 246 164 1129 C G targeted
chr11 117335872 A G synonymous_variant LOW SILENT ggT/ggC G1077 2113 DSCAML1 51 992 108 0 52 990 0 52 56 1129 C C targeted
chr17 5073951 G C missense_variant MODERATE MISSENSE gGg/gCg G1232A 1406 USP6 26 2002 242 0 26 2002 0 178 64 1129 G G targeted
chr17 7577121 G A missense_variant MODERATE MISSENSE Cgt/Tgt R273C 393 TP53 23 1647 155 0 24 1647 0 118 37 1129 C C targeted
chr17 7579368 A C missense_variant MODERATE MISSENSE Tac/Gac Y107D 393 TP53 22 1549 170 0 23 1548 1 131 39 1129 T G targeted
chr17 34581921 G A missense_variant, missense_variant, missense_variant MODERATE, MODERATE, MODERATE MISSENSE, MISSENSE, MISSENSE Cgt/Tgt, Cgt/Tgt, Cgt/Tgt R377C, R377C, R377C 549, 549, 549 TBC1D3H, LOC101060321, TBC1D3F 22 382 80 0 22 382 0 62 18 1129 C T targeted
chr18 6977851 C A missense_variant MODERATE MISSENSE Gtg/Ttg V2074L 3075 LAMA1 43 1505 226 0 43 1505 0 128 98 1129 A G targeted
chr18 8384664 C T missense_variant MODERATE MISSENSE Cgc/Tgc R1342C 1465 PTPRM 39 1799 246 0 40 1799 0 148 98 1129 C G targeted
chr2 209113112 C T missense_variant MODERATE MISSENSE cGt/cAt R132H 414 IDH1 45 2534 355 0 45 2533 1 194 161 1129 A G targeted
chr4 151773875 T C missense_variant MODERATE MISSENSE gAg/gGg E996G 2863 LRBA 32 2414 240 0 32 2414 0 163 77 1129 C C targeted
chr7 100636325 T C synonymous_variant LOW SILENT caT/caC H827 5335 MUC12 44 4411 486 0 44 4409 1 270 216 1129 A A targeted
chr7 100643675 G A synonymous_variant LOW SILENT ccG/ccA P3277 5335 MUC12 15 15275 2877 0 16 15271 1 2422 455 1129 C A targeted
chr7 100682585 G A missense_variant MODERATE MISSENSE Gaa/Aaa E2630K 4493 MUC17 47 4490 564 0 47 4490 0 297 266 1129 T A targeted
chrX 9859136 G A missense_variant MODERATE MISSENSE cGa/cAa R146Q 1616 SHROOM2 100 1298 99 0 100 1297 0 0 99 1129 C A targeted
chrX 76829715 C G missense_variant+splice_region_variant MODERATE MISSENSE aGa/aCa R2109T 2492 ATRX 34 1414 103 0 35 1414 0 67 36 1129 C T targeted
chrX 76829718 A C missense_variant MODERATE MISSENSE gTg/gGg V2108G 2492 ATRX 34 1450 103 0 35 1450 0 67 36 1129 C C targeted
chrX 99551784 G A missense_variant MODERATE MISSENSE Cgt/Tgt R980C 1148 PCDH19 100 1294 126 0 100 1294 0 0 126 1129 C G targeted
chr1 6534209 C T missense_variant MODERATE MISSENSE gGa/gAa G231E 1085 PLEKHG5 40 505 97 0 40 505 0 58 39 1136 T C targeted
chr1 9784085 G A missense_variant MODERATE MISSENSE Gcc/Acc A885T 1044 PIK3CD 39 1446 255 0 40 1445 0 154 101 1136 G C targeted
chr1 16894473 C T splice_donor_variant+intron_variant HIGH - - - 1140 NBPF1 12 7386 1453 0 12 7385 1 1274 179 1136 A C targeted
chr1 22150198 C T missense_variant MODERATE MISSENSE gGt/gAt G4306D 4392 HSPG2 38 1131 231 0 38 1131 0 143 88 1136 A C targeted
chr1 22160386 G A missense_variant MODERATE MISSENSE Cgt/Tgt R3586C 4392 HSPG2 48 952 187 0 49 952 0 96 91 1136 C G targeted
chr1 144621518 G A missense_variant, missense_variant, intron_variant MODERATE, MODERATE, MODIFIER MISSENSE, MISSENSE, - Gca/Aca, Gca/Aca, - A283T, A283T, - 941, 1110, 4963 NBPF8, NBPF9, NBPF20 18 3428 740 0 18 3428 0 606 134 1136 G C targeted
chr1 145368467 A T missense_variant, intron_variant, intron_variant, intragenic_variant MODERATE, MODIFIER, MODIFIER, MODIFIER MISSENSE, -, -, - gAa/gTa, -, -, - E1039V, -, -, - 1110, 4963, 3626, - NBPF9, NBPF20, NBPF10, NBPF25P 22 3217 537 0 23 3216 0 414 123 1136 G A targeted
chr1 146408135 C T missense_variant, intron_variant, intron_variant, intragenic_variant MODERATE, MODIFIER, MODIFIER, MODIFIER MISSENSE, -, -, - gCc/gTc, -, -, - A590V, -, -, - 1457, 4963, 3626, - NBPF12, NBPF20, NBPF10, NBPF25P 82 1430 146 0 82 1430 0 26 120 1136 G C targeted
chr1 148341920 C A missense_variant, missense_variant, missense_variant, intragenic_variant MODERATE, MODERATE, MODERATE, MODIFIER MISSENSE, MISSENSE, MISSENSE, - tGt/tTt, tGt/tTt, tGt/tTt, - C218F, C218F, C218F, - 942, 2819, 1111, - NBPF8, NBPF14, NBPF9, NBPF25P 14 3514 756 0 14 3514 0 648 108 1136 A A targeted
chr1 152191837 C T synonymous_variant LOW SILENT ggG/ggA G756 2850 HRNR 50 3492 642 0 51 3491 0 315 327 1136 A C targeted
chr1 169511407 C T missense_variant MODERATE MISSENSE aGc/aAc S974N 2224 F5 35 2758 519 0 35 2758 0 337 182 1136 G T targeted
chr1 198665988 C T missense_variant MODERATE MISSENSE aCc/aTc T83I 1306 PTPRC 43 3107 542 0 43 3106 0 307 235 1136 A C targeted
chr1 208202311 C T missense_variant MODERATE MISSENSE Gac/Aac D1768N 1894 PLXNA2 37 196 37 0 38 196 0 23 14 1136 T C targeted
chr1 222837471 G A synonymous_variant LOW SILENT cgG/cgA R1798 1907 MIA3 38 2399 493 0 38 2399 0 304 189 1136 G C targeted
chr1 228471240 T G missense_variant MODERATE MISSENSE cTg/cGg L3354R 8923 OBSCN 46 990 167 0 46 990 0 90 77 1136 C G targeted
chr1 228522890 C T synonymous_variant LOW SILENT caC/caT H6389 8923 OBSCN 39 379 58 0 40 379 0 35 23 1136 A A targeted
chr1 248487838 G A synonymous_variant LOW SILENT gaC/gaT D11 312 OR2M7 35 1429 311 0 35 1429 0 201 110 1136 A T targeted
chr11 1271942 C T missense_variant MODERATE MISSENSE aCg/aTg T4611M 5762 MUC5B 89 3776 564 0 90 3774 1 57 507 1136 A G targeted
chr11 62285000 C T missense_variant MODERATE MISSENSE gGa/gAa G5630E 5890 AHNAK 39 2837 571 0 40 2837 0 344 227 1136 T C targeted
chr11 92086685 C T synonymous_variant LOW SILENT acC/acT T469 4557 FAT3 42 2783 545 0 42 2782 0 316 229 1136 C C targeted
chr11 108154987 G A synonymous_variant LOW SILENT gtG/gtA V1260 3056 ATM 38 1507 205 0 39 1507 0 126 79 1136 T A targeted
chr11 108196200 T A missense_variant MODERATE MISSENSE Tgt/Agt C2246S 3056 ATM 40 2420 422 0 41 2419 0 249 173 1136 A G targeted
chr11 117784617 C T synonymous_variant LOW SILENT agG/agA R228 567 TMPRSS13 37 1002 175 0 38 1001 0 109 66 1136 A C targeted
chr12 52159697 C T synonymous_variant LOW SILENT gtC/gtT V929 1980 SCN8A 77 167 18 0 78 167 0 4 14 1136 T T targeted
chr12 124272410 G A stop_gained HIGH NONSENSE tGg/tAg W433* 4471 DNAH10 24 1428 345 0 24 1428 0 262 83 1136 T G targeted
chr15 58891911 C T missense_variant MODERATE MISSENSE Gca/Aca A680T 748 ADAM10 35 1480 199 0 35 1479 1 129 70 1136 G C targeted
chr15 58933028 G A synonymous_variant LOW SILENT gaC/gaT D320 748 ADAM10 39 2266 392 0 40 2266 0 236 156 1136 G T targeted
chr16 2122285 C T missense_variant MODERATE MISSENSE cCt/cTt P714L 1807 TSC2 27 972 181 0 28 972 0 131 50 1136 C T targeted
chr16 23716362 G A synonymous_variant LOW SILENT gtC/gtT V280 974 ERN2 29 773 158 0 29 773 0 112 46 1136 A A targeted
chr17 2583542 C T missense_variant MODERATE MISSENSE Cgc/Tgc R363C 410 PAFAH1B1 92 3228 607 0 92 3227 0 47 559 1136 A G targeted
chr17 7577121 G A missense_variant MODERATE MISSENSE Cgt/Tgt R273C 393 TP53 81 1647 326 0 82 1647 0 59 266 1136 C C targeted
chr17 10432905 G A synonymous_variant, intragenic_variant LOW, MODIFIER SILENT, - atC/atT, - I1031, - 1941, - MYH2, MYHAS 37 3145 503 0 37 3144 0 315 188 1136 T A targeted
chr17 29509627 C T missense_variant MODERATE MISSENSE Cca/Tca P278S 2839 NF1 39 2304 361 0 40 2303 0 218 143 1136 T C targeted
chr17 29701058 C T missense_variant MODERATE MISSENSE tCc/tTc S2802F 2839 NF1 36 2124 401 0 36 2124 0 255 146 1136 T C targeted
chr17 36339712 C T synonymous_variant, synonymous_variant, synonymous_variant, synonymous_variant, synonymous_variant, synonymous_variant, synonymous_variant, synonymous_variant, synonymous_variant, synonymous_variant LOW, LOW, LOW, LOW, LOW, LOW, LOW, LOW, LOW, LOW SILENT, SILENT, SILENT, SILENT, SILENT, SILENT, SILENT, SILENT, SILENT, SILENT acG/acA, acG/acA, acG/acA, acG/acA, acG/acA, acG/acA, acG/acA, acG/acA, acG/acA, acG/acA T315, T315, T315, T315, T315, T315, T315, T315, T315, T315 549, 549, 549, 549, 549, 549, 549, 549, 549, 549 TBC1D3, TBC1D3H, LOC102723859, LOC101060321, LOC102724862, LOC101060351, LOC101060389, LOC101060376, TBC1D3F, TBC1D3C 12 886 180 0 12 886 0 158 22 1136 A G targeted
chr17 39506753 C T synonymous_variant LOW SILENT cgG/cgA R89 404 KRT33A 33 134 27 0 33 134 0 18 9 1136 C C targeted
chr19 9084728 G C missense_variant MODERATE MISSENSE Ctc/Gtc L2363V 14507 MUC16 47 2816 599 0 48 2815 0 314 285 1136 A C targeted
chr19 11145634 G A synonymous_variant LOW SILENT aaG/aaA K1332 1679 SMARCA4 35 738 114 0 36 738 0 73 41 1136 A C targeted
chr19 40396255 C T missense_variant MODERATE MISSENSE gGt/gAt G2381D 5405 FCGBP 24 537 49 0 24 537 0 37 12 1136 A C targeted
chr2 47690197 C T missense_variant MODERATE MISSENSE Cct/Tct P472S 934 MSH2 39 2812 447 0 39 2810 0 271 176 1136 A C targeted
chr2 209113112 C T missense_variant MODERATE MISSENSE cGt/cAt R132H 414 IDH1 36 2534 435 0 37 2533 1 275 160 1136 A G targeted
chr2 219000272 A C missense_variant MODERATE MISSENSE Atg/Ctg M250L 360 CXCR2 49 2184 367 0 50 2182 0 183 183 1136 C T targeted
chr20 33588919 C T synonymous_variant LOW SILENT gcC/gcT A1853 1983 MYH7B 38 129 26 0 38 129 0 16 10 1136 C C targeted
chr20 39802951 G A missense_variant+splice_region_variant MODERATE MISSENSE aGg/aAg R1278K 1291 PLCG1 36 1522 299 0 36 1522 0 191 108 1136 A G targeted
chr21 10951378 C T missense_variant MODERATE MISSENSE Gac/Aac D112N 551 TPTE 22 1583 281 0 23 1582 0 217 64 1136 T G targeted
chr3 12626657 C T synonymous_variant LOW SILENT ggG/ggA G544 648 RAF1 30 2751 535 0 31 2751 0 371 164 1136 C C targeted
chr3 37089069 G A stop_gained HIGH NONSENSE tgG/tgA W597* 756 MLH1 38 1803 312 0 39 1803 0 191 121 1136 G A targeted
chr3 138453485 T G synonymous_variant LOW SILENT cgA/cgC R321 1070 PIK3CB 52 2153 387 0 52 2151 1 184 203 1136 T C targeted
chr3 155200583 G A missense_variant MODERATE MISSENSE Cca/Tca P1086S 1693 PLCH1 36 2579 421 0 36 2579 0 269 152 1136 G G targeted
chr4 1808659 G A missense_variant+splice_region_variant MODERATE MISSENSE Gac/Aac D760N 808 FGFR3 54 745 131 0 54 745 0 60 71 1136 C A targeted
chr4 55127395 G C missense_variant MODERATE MISSENSE atG/atC M61I 1089 PDGFRA 43 3257 592 0 44 3256 0 333 259 1136 T T targeted
chr4 55948169 C T missense_variant MODERATE MISSENSE Gag/Aag E1268K 1356 KDR 34 2016 291 0 34 2015 0 191 100 1136 T T targeted
chr4 71346999 C A missense_variant MODERATE MISSENSE Cca/Aca P180T 377 MUC7 44 3296 739 0 45 3295 1 410 329 1136 A C targeted
chr4 114263063 G A synonymous_variant LOW SILENT agG/agA R1371 3957 ANK2 40 2352 355 0 40 2351 0 212 143 1136 G G targeted
chr4 151727449 C T missense_variant MODERATE MISSENSE gGa/gAa G1831E 2863 LRBA 36 1734 241 0 37 1734 0 153 88 1136 T C targeted
chr4 187629686 G A synonymous_variant LOW SILENT gcC/gcT A432 4588 FAT1 39 2671 481 0 40 2670 0 291 190 1136 G G targeted
chr7 4051875 C T splice_region_variant+intron_variant LOW - - - 2213 SDK1 65 1481 161 0 66 1481 0 55 106 1136 G C targeted
chr7 4153711 G A missense_variant MODERATE MISSENSE Ggc/Agc G1210S 2213 SDK1 69 823 111 0 69 823 0 34 77 1136 G G targeted
chr7 4259862 G A synonymous_variant LOW SILENT ggG/ggA G1887 2213 SDK1 68 1049 127 0 69 1048 0 40 87 1136 G C targeted
chr7 6017260 G A stop_gained HIGH NONSENSE Cga/Tga R802* 862 PMS2 77 1105 112 0 78 1105 0 25 87 1136 C G targeted
chr7 48312792 C T missense_variant MODERATE MISSENSE Cat/Tat H1177Y 5058 ABCA13 37 3499 565 0 37 3498 0 354 210 1136 T A targeted
chr7 94035592 C T stop_gained HIGH NONSENSE Cag/Tag Q191* 1366 COL1A2 39 2193 366 0 39 2193 0 222 144 1136 A A targeted
chr7 100684154 A C missense_variant MODERATE MISSENSE Agc/Cgc S3153R 4493 MUC17 46 4158 963 0 47 4156 1 513 450 1136 C G targeted
chr7 116403205 G A missense_variant MODERATE MISSENSE atG/atA M840I 1408 MET 48 3179 639 0 48 3178 0 331 308 1136 T T targeted
chr9 8501057 G A missense_variant+splice_region_variant MODERATE MISSENSE Ccg/Tcg P609S 1912 PTPRD 72 1145 102 0 73 1145 0 28 74 1136 G C targeted
chr9 139401170 G A missense_variant+splice_region_variant MODERATE MISSENSE aCc/aTc T1300I 2555 NOTCH1 35 1091 231 0 35 1091 0 150 81 1136 G T targeted
chrX 18943898 G A splice_region_variant+intron_variant LOW - - - 1235 PHKA2 66 1433 209 0 66 1432 1 71 138 1136 T T targeted
chrX 76813118 T C splice_acceptor_variant+intron_variant HIGH - - - 2492 ATRX 71 1334 173 0 71 1334 0 50 123 1136 C T targeted
chrX 76938865 C T missense_variant MODERATE MISSENSE gGa/gAa G628E 2492 ATRX 63 2355 299 0 64 2355 0 108 191 1136 T C targeted
chrX 99551784 G A missense_variant MODERATE MISSENSE Cgt/Tgt R980C 1148 PCDH19 83 1294 180 0 84 1294 0 29 151 1136 C G targeted
chr1 144828753 T C missense_variant, intron_variant, intron_variant MODERATE, MODIFIER, MODIFIER MISSENSE, -, - gTg/gCg, -, - V932A, -, - 941, 4963, 1110 NBPF8, NBPF20, NBPF9 39 1563 386 0 40 1561 1 232 154 1165 G G targeted
chr1 152187663 G A stop_gained HIGH NONSENSE Cga/Tga R2148* 2850 HRNR 15 9379 1258 0 15 9377 1 1068 190 1165 C T targeted
chr1 152191918 G A synonymous_variant LOW SILENT caC/caT H729 2850 HRNR 46 3856 845 0 47 3856 0 450 395 1165 C T targeted
chr1 154164450 G A synonymous_variant LOW SILENT gaC/gaT D15 285 TPM3 37 49 24 0 38 49 0 15 9 1165 T T targeted
chr1 154164455 A G synonymous_variant LOW SILENT Tta/Cta L14 285 TPM3 37 49 24 0 38 49 0 15 9 1165 A C targeted
chr10 19856629 G A missense_variant MODERATE MISSENSE Gga/Aga G1893R 2156 MALRD1 50 2335 443 0 50 2335 0 220 223 1165 T G targeted
chr10 90695019 A G synonymous_variant, intragenic_variant LOW, MODIFIER SILENT, - gaT/gaC, - D365, - 377, - ACTA2, ACTA2-AS1 80 10 10 0 80 10 0 2 8 1165 C T targeted
chr10 90695025 T C synonymous_variant, intragenic_variant LOW, MODIFIER SILENT, - gaA/gaG, - E363, - 377, - ACTA2, ACTA2-AS1 80 10 10 0 80 10 0 2 8 1165 A T targeted
chr10 90695034 G C missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - agC/agG, - S360R, - 377, - ACTA2, ACTA2-AS1 80 11 10 0 80 11 0 2 8 1165 T C targeted
chr10 90695035 C G missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - aGc/aCc, - S360T, - 377, - ACTA2, ACTA2-AS1 72 12 11 0 73 12 0 3 8 1165 G T targeted
chr10 90695064 A G synonymous_variant, intragenic_variant LOW, MODIFIER SILENT, - tcT/tcC, - S350, - 377, - ACTA2, ACTA2-AS1 66 17 12 0 67 17 0 4 8 1165 G G targeted
chr10 90695067 G A synonymous_variant, intragenic_variant LOW, MODIFIER SILENT, - gcC/gcT, - A349, - 377, - ACTA2, ACTA2-AS1 66 17 12 0 67 17 0 4 8 1165 A G targeted
chr10 90695100 T C synonymous_variant, intragenic_variant LOW, MODIFIER SILENT, - aaA/aaG, - K338, - 377, - ACTA2, ACTA2-AS1 63 16 11 0 64 16 0 4 7 1165 A T targeted
chr11 1092681 C T synonymous_variant LOW SILENT ccC/ccT P1500 2813 MUC2 13 936 161 0 14 936 0 139 22 1165 C A targeted
chr13 110436160 G A synonymous_variant LOW SILENT tgC/tgT C747 1338 IRS2 54 960 183 0 55 960 0 83 100 1165 C C targeted
chr13 110437036 G C synonymous_variant LOW SILENT ggC/ggG G455 1338 IRS2 43 108 16 0 44 108 0 9 7 1165 A C targeted
chr14 104639551 G A missense_variant MODERATE MISSENSE cGg/cAg R553Q 1882 KIF26A 50 503 81 0 51 503 0 40 41 1165 C G targeted
chr17 7578448 G T missense_variant MODERATE MISSENSE gCc/gAc A161D 393 TP53 30 1451 195 0 31 1449 0 135 60 1165 G C targeted
chr17 10299966 G A missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - Cgt/Tgt, - R1478C, - 1937, - MYH8, MYHAS 53 2357 386 0 53 2357 0 181 205 1165 C T targeted
chr17 10400425 T A missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - caA/caT, - Q1539H, - 1939, - MYH1, MYHAS 48 257 47 0 49 257 0 24 23 1165 C T targeted
chr17 11795095 C G missense_variant+splice_region_variant MODERATE MISSENSE gCc/gGc A3705G 4486 DNAH9 44 1169 199 0 44 1169 0 111 88 1165 G C targeted
chr19 9072671 G A synonymous_variant LOW SILENT acC/acT T4925 14507 MUC16 33 3132 716 0 34 3132 0 475 241 1165 C G targeted
chr2 167056045 C T missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - Gga/Aga, - G1691R, - 1977, - SCN9A, LOC101929680 34 2322 375 0 34 2321 1 247 128 1165 C A targeted
chr21 10906910 C T missense_variant MODERATE MISSENSE Gat/Aat D551N 551 TPTE 15 3432 729 0 16 3430 0 615 114 1165 T G targeted
chr4 55139742 A G missense_variant MODERATE MISSENSE aAt/aGt N468S 1089 PDGFRA 82 2069 3854 0 83 2067 1 658 3194 1165 A T targeted
chr4 187557838 G A synonymous_variant LOW SILENT atC/atT I1291 4588 FAT1 50 3066 659 0 50 3065 1 327 332 1165 C A targeted
chr7 116339342 C T synonymous_variant LOW SILENT aaC/aaT N68 1408 MET 49 3022 649 0 49 3022 0 328 321 1165 A T targeted
chr8 118834753 T C synonymous_variant LOW SILENT ccA/ccG P456 746 EXT1 54 1905 370 0 55 1904 0 167 203 1165 G G targeted
chr8 144946134 G A missense_variant MODERATE MISSENSE Cgg/Tgg R430W 2420 EPPK1 46 374 82 0 46 374 0 44 38 1165 C C targeted
chrX 2947339 C T synonymous_variant LOW SILENT caC/caT H417 562 ARSH 100 2250 276 0 100 2249 1 0 276 1165 A T targeted
chrX 99661969 G A synonymous_variant LOW SILENT Ctg/Ttg L543 1148 PCDH19 100 1782 234 0 100 1781 0 0 234 1165 A T targeted
chr1 16890607 G A missense_variant MODERATE MISSENSE cCg/cTg P1085L 1140 NBPF1 10 6588 999 0 10 6588 0 899 100 1167 C G targeted
chr1 16890652 T C missense_variant MODERATE MISSENSE gAg/gGg E1070G 1140 NBPF1 13 5858 945 0 13 5854 0 820 125 1167 C C targeted
chr1 16890677 T C missense_variant MODERATE MISSENSE Agc/Ggc S1062G 1140 NBPF1 9 5562 886 0 10 5559 0 799 87 1167 C G targeted
chr1 16893854 A C splice_region_variant+intron_variant LOW - - - 1140 NBPF1 14 4546 999 0 14 4545 0 858 141 1167 C G targeted
chr1 145302762 C A synonymous_variant, intron_variant, intron_variant, intragenic_variant LOW, MODIFIER, MODIFIER, MODIFIER SILENT, -, -, - gcC/gcA, -, -, - A400, -, -, - 3626, 4963, 1110, - NBPF10, NBPF20, NBPF9, NBPF25P 34 832 145 0 34 832 0 94 50 1167 C C targeted
chr1 216371667 C T synonymous_variant LOW SILENT acG/acA T1357 5202 USH2A 39 2487 375 0 39 2486 0 227 148 1167 C G targeted
chr1 226252135 A T missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - aAg/aTg, - K28M, - 136, - H3F3A, H3F3AP4 50 2052 459 0 50 2052 0 229 230 1167 A G targeted
chr1 228434408 C T missense_variant MODERATE MISSENSE Cgg/Tgg R1405W 8923 OBSCN 33 2523 775 0 34 2523 0 514 261 1167 G G targeted
chr1 228558962 C T missense_variant MODERATE MISSENSE cCc/cTc P7785L 8923 OBSCN 60 1166 265 0 60 1165 1 106 159 1167 C C targeted
chr15 23572593 A G missense_variant MODERATE MISSENSE aTa/aCa I474T 660 GOLGA6L22 28 608 52 0 29 606 0 37 15 1167 T T targeted
chr15 75555708 T C missense_variant MODERATE MISSENSE gTg/gCg V102A 693 GOLGA6C 76 117 17 0 76 117 0 4 13 1167 G G targeted
chr17 7577568 C T missense_variant MODERATE MISSENSE tGt/tAt C238Y 393 TP53 72 915 121 0 73 915 0 33 88 1167 A A targeted
chr18 6976007 T C missense_variant MODERATE MISSENSE Aat/Gat N2140D 3075 LAMA1 49 2016 225 0 50 2016 0 112 112 1167 T G targeted
chr19 43967365 C G missense_variant MODERATE MISSENSE Ggt/Cgt G153R 346 LYPD3 47 901 156 0 47 901 0 82 74 1167 C C targeted
chr19 49547890 G T synonymous_variant LOW SILENT ccG/ccT P24 165 CGB5 37 388 66 0 38 351 0 41 25 1167 C C targeted
chr19 49551573 C A synonymous_variant LOW SILENT ccG/ccT P24 165 CGB8 32 259 40 0 32 245 0 27 13 1167 G G targeted
chr21 10906910 C T missense_variant MODERATE MISSENSE Gat/Aat D551N 551 TPTE 19 3432 282 0 20 3430 0 227 55 1167 T G targeted
chr6 7231825 G A missense_variant MODERATE MISSENSE Gcc/Acc A1165T 1742 RREB1 18 692 65 0 18 692 0 53 12 1167 C C targeted
chr7 100644743 C A synonymous_variant LOW SILENT gcC/gcA A3633 5335 MUC12 9 5144 615 0 10 5143 1 555 60 1167 C T targeted
chr8 144942322 G A synonymous_variant LOW SILENT ccC/ccT P1700 2420 EPPK1 34 2218 743 0 35 2217 1 485 258 1167 C G targeted
chr9 2029090 C G missense_variant MODERATE MISSENSE cCt/cGt P23R 1590 SMARCA2 40 693 114 0 40 693 0 68 46 1167 C T targeted
chrX 34962261 T C missense_variant MODERATE MISSENSE cTg/cCg L438P 645 FAM47B 100 2104 125 0 100 2103 0 0 125 1167 C G targeted
chr1 22151112 C T splice_region_variant+intron_variant LOW - - - 4392 HSPG2 30 459 39 0 31 459 0 27 12 1170 G G targeted
chr1 27093065 T A splice_region_variant+intron_variant LOW - - - 2285 ARID1A 68 2091 280 0 69 2089 0 87 193 1170 A T targeted
chr1 144615204 G A missense_variant, missense_variant, intron_variant MODERATE, MODERATE, MODIFIER MISSENSE, MISSENSE, - cGc/cAc, cGc/cAc, - R25H, R25H, - 941, 1110, 4963 NBPF8, NBPF9, NBPF20 16 1238 165 0 17 1235 1 137 28 1170 C C targeted
chr1 145293564 C T synonymous_variant, intron_variant, intron_variant, intragenic_variant LOW, MODIFIER, MODIFIER, MODIFIER SILENT, -, -, - aaC/aaT, -, -, - N53, -, -, - 3626, 4963, 1110, - NBPF10, NBPF20, NBPF9, NBPF25P 11 6841 1052 0 12 6841 0 926 126 1170 A C targeted
chr1 145368467 A T missense_variant, intron_variant, intron_variant, intragenic_variant MODERATE, MODIFIER, MODIFIER, MODIFIER MISSENSE, -, -, - gAa/gTa, -, -, - E1039V, -, -, - 1110, 4963, 3626, - NBPF9, NBPF20, NBPF10, NBPF25P 18 3217 630 0 18 3216 0 516 114 1170 G A targeted
chr1 152187190 A T missense_variant MODERATE MISSENSE caT/caA H2305Q 2850 HRNR 50 7643 369 0 50 7640 1 183 186 1170 C T targeted
chr1 204413288 G T splice_region_variant+synonymous_variant LOW SILENT gcC/gcA A925 1634 PIK3C2B 47 3361 580 0 48 3361 0 304 276 1170 G G targeted
chr1 228557898 C T missense_variant MODERATE MISSENSE Cgg/Tgg R7666W 8923 OBSCN 52 1142 166 0 52 1142 0 79 87 1170 C G targeted
chr10 123353299 G A synonymous_variant LOW SILENT gtC/gtT V11 822 FGFR2 48 2643 252 0 48 2642 0 131 121 1170 C A targeted
chr11 92087265 G C missense_variant MODERATE MISSENSE Gac/Cac D663H 4557 FAT3 48 3527 336 0 48 3527 0 174 162 1170 A A targeted
chr17 7578406 C T missense_variant MODERATE MISSENSE cGc/cAc R175H 393 TP53 96 1518 253 0 96 1518 0 10 243 1170 G G targeted
chr17 44626616 C T missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - Cct/Tct, - P1371S, - 1700, - LRRC37A2, ARL17A 47 2675 282 0 48 2674 0 147 135 1170 C C targeted
chr18 6978223 G A synonymous_variant LOW SILENT caC/caT H2054 3075 LAMA1 55 1347 243 0 56 1347 0 108 135 1170 G T targeted
chr2 209113112 C T missense_variant MODERATE MISSENSE cGt/cAt R132H 414 IDH1 40 2534 184 0 40 2533 1 110 74 1170 A G targeted
chr6 83075234 C A missense_variant MODERATE MISSENSE Cct/Act P186T 420 TPBG 27 1662 191 0 28 1662 0 138 53 1170 C C targeted
chr6 83075235 C A missense_variant MODERATE MISSENSE cCt/cAt P186H 420 TPBG 27 1658 191 0 27 1656 1 139 52 1170 C T targeted
chr7 100638433 C T missense_variant MODERATE MISSENSE aCg/aTg T1530M 5335 MUC12 43 264 39 0 44 264 0 22 17 1170 A G targeted
chr7 100643104 C T missense_variant MODERATE MISSENSE aCg/aTg T3087M 5335 MUC12 11 823 177 0 11 822 1 157 20 1170 A G targeted
chr7 107605114 G A synonymous_variant LOW SILENT ggC/ggT G527 1786 LAMB1 51 1653 254 0 52 1652 0 122 132 1170 G C targeted
chr7 142640596 T G synonymous_variant LOW SILENT ccA/ccC P560 732 KEL 47 1154 203 0 47 1154 0 107 96 1170 A G targeted
chr8 77764171 A G missense_variant MODERATE MISSENSE Aaa/Gaa K1672E 3616 ZFHX4 32 2875 459 0 33 2874 0 309 150 1170 T A targeted
chrX 153581932 A G synonymous_variant LOW SILENT gcT/gcC A1950 2647 FLNA 100 664 64 0 100 663 1 0 64 1170 G G targeted
chr1 16909053 T G missense_variant MODERATE MISSENSE cAg/cCg Q431P 1140 NBPF1 14 723 92 0 14 723 0 79 13 1175 C G targeted
chr1 150525475 C T synonymous_variant LOW SILENT tgC/tgT C60 1097 ADAMTSL4 47 1157 139 0 47 1157 0 73 66 1175 G G targeted
chr11 1277957 A G missense_variant MODERATE MISSENSE cAg/cGg Q5398R 5762 MUC5B 96 470 33 0 97 470 0 1 32 1175 C G targeted
chr12 124414268 A G missense_variant MODERATE MISSENSE Agg/Ggg R4074G 4471 DNAH10 35 2068 217 0 35 2068 0 141 76 1175 A G targeted
chr15 32690970 A C missense_variant MODERATE MISSENSE ttT/ttG F159L 630 GOLGA8K 54 64 11 0 55 64 0 5 6 1175 C A targeted
chr17 7577581 A G missense_variant MODERATE MISSENSE Tac/Cac Y234H 393 TP53 95 895 109 0 95 895 0 5 104 1175 T G targeted
chr17 10426733 C T splice_region_variant+intron_variant, intragenic_variant LOW, MODIFIER -, - -, - -, - 1941, - MYH2, MYHAS 96 3084 332 0 97 3082 0 11 321 1175 G A targeted
chr17 29576098 C T synonymous_variant LOW SILENT ttC/ttT F1357 2839 NF1 51 3131 416 0 51 3130 1 202 214 1175 T C targeted
chr18 8387083 A G missense_variant MODERATE MISSENSE tAt/tGt Y1353C 1465 PTPRM 37 2506 295 0 38 2506 0 184 111 1175 T T targeted
chr19 8959709 A G splice_region_variant+intron_variant LOW - - - 14507 MUC16 47 1430 213 0 48 1430 0 111 102 1175 T T targeted
chr2 209113112 C T missense_variant MODERATE MISSENSE cGt/cAt R132H 414 IDH1 28 2534 289 0 29 2533 1 206 83 1175 A G targeted
chr22 21348980 C T synonymous_variant LOW SILENT tgC/tgT C583 840 LZTR1 61 700 54 0 61 700 0 21 33 1175 G G targeted
chr4 55133558 T A missense_variant MODERATE MISSENSE Tac/Aac Y288N 1089 PDGFRA 74 2558 4859 0 75 2557 0 1219 3637 1175 T A targeted
chr4 147561648 A T synonymous_variant LOW SILENT acA/acT T306 409 POU4F2 43 1531 91 0 44 1530 0 51 40 1175 C C targeted
chr5 31511155 G A synonymous_variant LOW SILENT ctC/ctT L473 1374 DROSHA 53 2275 235 0 54 2275 0 109 126 1175 C A targeted
chr6 33644598 G A synonymous_variant LOW SILENT tcG/tcA S1112 2671 ITPR3 58 776 75 0 59 775 1 31 44 1175 C G targeted
chr7 100681632 C A missense_variant MODERATE MISSENSE aCt/aAt T2312N 4493 MUC17 48 3956 418 0 48 3956 0 217 201 1175 A T targeted
chr8 144944905 A C synonymous_variant LOW SILENT tcT/tcG S839 2420 EPPK1 35 958 89 0 36 958 0 57 32 1175 C G targeted
chr9 139400004 C T synonymous_variant LOW SILENT gcG/gcA A1448 2555 NOTCH1 65 1174 105 0 66 1173 0 36 69 1175 A G targeted
chrX 34962543 G A missense_variant MODERATE MISSENSE cGc/cAc R532H 645 FAM47B 63 2204 277 0 64 2204 0 100 177 1175 C C targeted
chrX 39931825 C T missense_variant MODERATE MISSENSE tGt/tAt C925Y 1755 BCOR 28 1874 203 0 28 1874 0 146 57 1175 A A targeted
chrX 76813010 A C missense_variant MODERATE MISSENSE cTt/cGt L2204R 2492 ATRX 50 1841 254 0 51 1841 0 125 129 1175 A G targeted
chrX 153588658 C T missense_variant MODERATE MISSENSE Ggg/Agg G1169R 2647 FLNA 14 1193 155 0 14 1193 0 133 22 1175 C G targeted
chr1 16893853 C A splice_region_variant+intron_variant LOW - - - 1140 NBPF1 14 4583 740 0 14 4582 1 635 105 1186 A A targeted
chr1 16912063 T A missense_variant MODERATE MISSENSE aaA/aaT K303N 1140 NBPF1 22 1746 159 0 22 1744 0 124 35 1186 G T targeted
chr1 16912133 G A missense_variant MODERATE MISSENSE tCc/tTc S280F 1140 NBPF1 17 2649 307 0 17 2648 0 254 53 1186 G A targeted
chr1 145323669 A G missense_variant, intron_variant, intron_variant, intragenic_variant MODERATE, MODIFIER, MODIFIER, MODIFIER MISSENSE, -, -, - gAa/gGa, -, -, - E1244G, -, -, - 3626, 4963, 1110, - NBPF10, NBPF20, NBPF9, NBPF25P 9 1594 271 0 10 1594 0 245 26 1186 G A targeted
chr1 145365460 G A splice_donor_variant+intron_variant, intron_variant, intron_variant, intragenic_variant HIGH, MODIFIER, MODIFIER, MODIFIER -, -, -, - -, -, -, - -, -, -, - 3626, 4963, 1110, - NBPF10, NBPF20, NBPF9, NBPF25P 100 224 16 0 100 224 0 0 16 1186 G T targeted
chr1 146395465 T A missense_variant, intron_variant, intron_variant, intragenic_variant MODERATE, MODIFIER, MODIFIER, MODIFIER MISSENSE, -, -, - Tgt/Agt, -, -, - C42S, -, -, - 1457, 4963, 3626, - NBPF12, NBPF20, NBPF10, NBPF25P 20 1525 242 0 20 1525 0 193 49 1186 A G targeted
chr1 152192341 C A missense_variant MODERATE MISSENSE gaG/gaT E588D 2850 HRNR 61 4085 810 0 62 4084 1 308 502 1186 A T targeted
chr1 169519206 T A missense_variant MODERATE MISSENSE Act/Tct T482S 2224 F5 47 2416 376 0 47 2416 0 198 178 1186 G A targeted
chr1 228464266 C T synonymous_variant LOW SILENT gaC/gaT D2487 8923 OBSCN 13 955 186 0 14 955 0 160 26 1186 A G targeted
chr10 19612940 C G missense_variant MODERATE MISSENSE gCt/gGt A1161G 2156 MALRD1 46 2844 455 0 46 2844 0 245 210 1186 G T targeted
chr11 1268488 C T missense_variant MODERATE MISSENSE Ccc/Tcc P3460S 5762 MUC5B 21 3959 654 0 22 3957 1 511 143 1186 G C targeted
chr12 112888158 C G missense_variant MODERATE MISSENSE aaC/aaG N58K 593 PTPN11 15 2542 386 0 16 2542 0 325 60 1186 A A targeted
chr12 124298357 C G synonymous_variant LOW SILENT gtC/gtG V1108 4471 DNAH10 53 2713 462 0 53 2712 0 215 247 1186 T C targeted
chr17 10432273 C T missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - Ggt/Agt, - G1160S, - 1941, - MYH2, MYHAS 29 2289 281 0 29 2289 0 199 82 1186 C G targeted
chr17 29663868 C G synonymous_variant LOW SILENT tcC/tcG S2121 2839 NF1 10 2531 316 0 10 2531 0 283 33 1186 C A targeted
chr17 29663923 C G missense_variant MODERATE MISSENSE Cat/Gat H2140D 2839 NF1 10 2060 253 0 11 2060 0 226 27 1186 T A targeted
chr17 34803368 C T missense_variant, missense_variant MODERATE, MODERATE MISSENSE, MISSENSE Ggg/Agg, Ggg/Agg G151R, G151R 549, 549 TBC1D3F, TBC1D3B 37 368 66 0 38 368 0 41 25 1186 C G targeted
chr17 44626707 A T missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - gAt/gTt, - D1401V, - 1700, - LRRC37A2, ARL17A 41 2868 53 0 42 2867 0 31 22 1186 G T targeted
chr19 9071680 A G missense_variant MODERATE MISSENSE Ttc/Ctc F5256L 14507 MUC16 18 1980 241 0 19 1980 0 196 45 1186 A G targeted
chr2 84896482 C A synonymous_variant LOW SILENT Cga/Aga R2052 4158 DNAH6 51 2848 487 0 51 2846 0 237 250 1186 A G targeted
chr21 10906910 C T missense_variant MODERATE MISSENSE Gat/Aat D551N 551 TPTE 16 3432 548 0 17 3430 0 457 91 1186 T G targeted
chr3 178936091 G A missense_variant MODERATE MISSENSE Gag/Aag E545K 1068 PIK3CA 14 1308 214 0 14 1308 0 184 30 1186 T A targeted
chr4 55971075 G A synonymous_variant LOW SILENT gaC/gaT D574 1356 KDR 62 2414 532 0 63 2414 0 198 334 1186 T T targeted
chr6 31729030 A G synonymous_variant, intragenic_variant LOW, MODIFIER SILENT, - ggA/ggG, - G677, - 835, - MSH5, MSH5-SAPCD1 70 2620 257 0 71 2619 0 75 182 1186 G A targeted
chr6 75861872 C T synonymous_variant LOW SILENT ccG/ccA P1270 3063 COL12A1 51 2765 476 0 52 2764 1 229 247 1186 A G targeted
chr7 100633963 C T missense_variant MODERATE MISSENSE cCc/cTc P40L 5335 MUC12 27 3110 515 0 27 3109 1 374 140 1186 C C targeted
chr7 100636123 C A missense_variant MODERATE MISSENSE aCc/aAc T760N 5335 MUC12 19 5475 1530 0 19 5472 1 1235 295 1186 A C targeted
chr7 100647367 G A missense_variant MODERATE MISSENSE cGc/cAc R4508H 5335 MUC12 16 335 87 0 16 335 0 73 14 1186 C C targeted
chr7 100678938 G A missense_variant MODERATE MISSENSE aGc/aAc S1414N 4493 MUC17 51 4197 683 0 52 4197 0 328 355 1186 A C targeted
chr7 107580511 G T missense_variant MODERATE MISSENSE agC/agA S1228R 1786 LAMB1 52 2688 448 0 53 2687 0 212 236 1186 C C targeted
chr9 21971087 G A synonymous_variant LOW SILENT Ctg/Ttg L91 167 CDKN2A 31 828 106 0 31 827 0 73 33 1186 A G targeted
chr9 135781005 G C missense_variant MODERATE MISSENSE Cag/Gag Q654E 1164 TSC1 50 1526 243 0 50 1525 0 121 122 1186 T T targeted
chrX 2951091 C G missense_variant MODERATE MISSENSE Cct/Gct P452A 562 ARSH 49 2332 453 0 49 2332 0 230 223 1186 T C targeted
chr1 27093063 G A splice_region_variant+intron_variant LOW - - - 2285 ARID1A 50 2115 224 0 50 2115 0 112 112 1188 T A targeted
chr1 152186479 C A synonymous_variant LOW SILENT ggG/ggT G2542 2850 HRNR 15 700 78 0 15 699 1 66 12 1188 A C targeted
chr1 216019174 C T missense_variant MODERATE MISSENSE tGc/tAc C3016Y 5202 USH2A 46 1687 182 0 46 1686 1 98 84 1188 G A targeted
chr1 228528297 G A missense_variant MODERATE MISSENSE Gtg/Atg V6793M 8923 OBSCN 44 1063 119 0 45 1063 0 66 53 1188 G T targeted
chr11 108192072 T C missense_variant MODERATE MISSENSE gTg/gCg V2166A 3056 ATM 48 2706 283 0 48 2705 0 146 137 1188 G G targeted
chr14 104646050 G A missense_variant MODERATE MISSENSE Gtc/Atc V1858I 1882 KIF26A 39 580 41 0 39 580 0 25 16 1188 C T targeted
chr15 57458615 G C missense_variant MODERATE MISSENSE aGa/aCa R114T 706 TCF12 38 2152 193 0 38 2152 0 119 74 1188 A A targeted
chr17 7578418 T C missense_variant MODERATE MISSENSE gAg/gGg E171G 393 TP53 37 1500 102 0 37 1500 0 64 38 1188 C C targeted
chr17 39577617 A T splice_donor_variant+intron_variant HIGH - - - 449 KRT37 51 673 72 0 51 671 0 35 37 1188 T C targeted
chr2 209113112 C T missense_variant MODERATE MISSENSE cGt/cAt R132H 414 IDH1 26 2534 273 0 26 2533 1 202 71 1188 A G targeted
chr21 43838605 C T synonymous_variant LOW SILENT gaC/gaT D311 661 UBASH3A 44 2355 206 0 45 2355 0 114 92 1188 A G targeted
chr22 50616317 C T synonymous_variant LOW SILENT gaC/gaT D392 677 PANX2 30 854 65 0 31 853 1 45 20 1188 A G targeted
chr4 187629951 G A missense_variant MODERATE MISSENSE cCg/cTg P344L 4588 FAT1 49 2327 236 0 49 2326 0 120 116 1188 C G targeted
chr7 142639971 G A synonymous_variant LOW SILENT atC/atT I644 732 KEL 53 2300 214 0 54 2300 0 99 115 1188 C A targeted
chr8 121279068 T G missense_variant+splice_region_variant MODERATE MISSENSE Tca/Gca S1007A 1796 COL14A1 50 1832 274 0 51 1832 0 135 139 1188 A C targeted
chr9 135772874 C T missense_variant MODERATE MISSENSE Gcc/Acc A917T 1164 TSC1 51 2082 248 0 52 2082 0 120 128 1188 G C targeted
chrX 76912126 C A stop_gained HIGH NONSENSE Gaa/Taa E1380* 2492 ATRX 25 1121 152 0 25 1121 0 114 38 1188 T T targeted
chrX 148586764 G A 5_prime_UTR_premature_start_codon_gain_variant LOW - - - 550 IDS 45 328 40 0 45 328 0 22 18 1188 C G targeted
chrX 153184462 T C missense_variant MODERATE MISSENSE Agc/Ggc S326G 986 ARHGAP4 39 1429 171 0 40 1428 0 103 68 1188 C C targeted
chrX 153690601 G A missense_variant MODERATE MISSENSE cGc/cAc R423H 1871 PLXNA3 48 735 94 0 49 735 0 48 46 1188 C C targeted
chrX 153693524 G A missense_variant MODERATE MISSENSE cGc/cAc R736H 1871 PLXNA3 53 362 47 0 53 362 0 22 25 1188 C C targeted
chrX 153694534 C T missense_variant MODERATE MISSENSE cCg/cTg P907L 1871 PLXNA3 50 819 112 0 51 819 0 55 57 1188 C G targeted
chrX 153695651 C T missense_variant MODERATE MISSENSE gCg/gTg A1093V 1871 PLXNA3 44 795 109 0 45 795 0 60 49 1188 G G targeted
chr1 11186833 T C synonymous_variant LOW SILENT caA/caG Q2124 2549 MTOR 31 2369 294 0 32 2369 0 200 94 1199 A T targeted
chr1 16895623 G A synonymous_variant LOW SILENT agC/agT S853 1140 NBPF1 13 5709 888 0 14 5709 0 766 121 1199 C C targeted
chr1 145368473 G A missense_variant, intron_variant, intron_variant, intragenic_variant MODERATE, MODIFIER, MODIFIER, MODIFIER MISSENSE, -, -, - cGt/cAt, -, -, - R1041H, -, -, - 1110, 4963, 3626, - NBPF9, NBPF20, NBPF10, NBPF25P 19 3367 583 0 20 2516 0 342 116 1199 C T targeted
chr1 146395465 T A missense_variant, intron_variant, intron_variant, intragenic_variant MODERATE, MODIFIER, MODIFIER, MODIFIER MISSENSE, -, -, - Tgt/Agt, -, -, - C42S, -, -, - 1457, 4963, 3626, - NBPF12, NBPF20, NBPF10, NBPF25P 20 1525 210 0 20 1525 0 167 43 1199 A G targeted
chr1 150530954 C T synonymous_variant LOW SILENT tcC/tcT S819 1097 ADAMTSL4 18 839 105 0 18 839 0 86 19 1199 C G targeted
chr1 152187939 C T missense_variant MODERATE MISSENSE Ggc/Agc G2056S 2850 HRNR 23 3811 213 0 23 3809 0 164 49 1199 C A targeted
chr1 152190759 C T missense_variant MODERATE MISSENSE Ggc/Agc G1116S 2850 HRNR 47 2239 319 0 48 2239 0 166 153 1199 C A targeted
chr1 152191775 C G missense_variant MODERATE MISSENSE aGc/aCc S777T 2850 HRNR 49 3372 438 0 49 3371 0 223 215 1199 G T targeted
chr1 216052118 C T missense_variant MODERATE MISSENSE gGa/gAa G2849E 5202 USH2A 47 1372 213 0 47 1372 0 112 101 1199 T C targeted
chr10 22016809 G A missense_variant MODERATE MISSENSE cGc/cAc R672H 1068 MLLT10 44 1827 272 0 45 1827 0 150 122 1199 C C targeted
chr11 1092762 A C synonymous_variant LOW SILENT acA/acC T1527 2813 MUC2 22 570 49 0 22 570 0 38 11 1199 C A targeted
chr11 117299069 T A missense_variant MODERATE MISSENSE tAc/tTc Y2106F 2113 DSCAML1 47 303 34 0 47 302 0 18 16 1199 G A targeted
chr14 95557642 C G missense_variant MODERATE MISSENSE Ggg/Cgg G1809R 1922 DICER1 66 1670 165 0 67 1670 0 55 110 1199 C C targeted
chr16 23713840 C T missense_variant MODERATE MISSENSE Gcc/Acc A366T 974 ERN2 56 1081 193 0 57 1081 0 83 110 1199 G C targeted
chr17 7578406 C T missense_variant MODERATE MISSENSE cGc/cAc R175H 393 TP53 95 1518 169 0 95 1518 0 8 161 1199 G G targeted
chr18 7955204 T C synonymous_variant LOW SILENT aaT/aaC N308 1465 PTPRM 53 2537 354 0 53 2536 0 166 188 1199 A G targeted
chr19 9060848 C T synonymous_variant LOW SILENT tcG/tcA S8866 14507 MUC16 46 2609 395 0 47 2607 1 210 184 1199 G G targeted
chr19 42797969 A G missense_variant MODERATE MISSENSE Acc/Gcc T1341A 1608 CIC 37 529 37 0 38 529 0 23 14 1199 G C targeted
chr2 16085655 C T synonymous_variant LOW SILENT atC/atT I277 464 MYCN 99 1612 8898 0 99 1611 0 66 8829 1199 T G targeted
chr2 167297957 T C synonymous_variant LOW SILENT caA/caG Q702 1682 SCN7A 73 334 46 0 74 334 0 12 34 1199 A T targeted
chr2 190719160 A C missense_variant MODERATE MISSENSE Att/Ctt I388L 932 PMS1 65 2702 334 0 66 2700 1 114 220 1199 C T targeted
chr2 209113112 C T missense_variant MODERATE MISSENSE cGt/cAt R132H 414 IDH1 62 2534 314 0 62 2533 1 119 195 1199 A G targeted
chr3 10074592 C G missense_variant MODERATE MISSENSE atC/atG I47M 1471 FANCD2 49 2242 372 0 50 2242 0 187 185 1199 T T targeted
chr3 47098580 G T missense_variant MODERATE MISSENSE Cct/Act P2232T 2564 SETD2 27 1593 215 0 27 1592 1 156 59 1199 G A targeted
chr4 147561061 G C missense_variant MODERATE MISSENSE Gcc/Ccc A111P 409 POU4F2 82 713 76 0 83 713 0 13 63 1199 C C targeted
chr4 151749444 T C missense_variant MODERATE MISSENSE Aac/Gac N1687D 2863 LRBA 66 2570 302 0 67 2570 0 100 202 1199 T A targeted
chr4 187557829 C A synonymous_variant LOW SILENT ggG/ggT G1294 4588 FAT1 63 3088 366 0 64 3088 0 132 234 1199 T C targeted
chr6 31725978 C G missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - Cgc/Ggc, - R351G, - 835, - MSH5, MSH5-SAPCD1 51 2024 284 0 51 2020 0 139 145 1199 C G targeted
chr7 100686401 A G missense_variant MODERATE MISSENSE Aca/Gca T3902A 4493 MUC17 15 3991 650 0 15 3990 1 550 100 1199 C C targeted
chr8 144943769 G A missense_variant MODERATE MISSENSE aCc/aTc T1218I 2420 EPPK1 83 894 130 0 83 893 0 22 108 1199 G T targeted
chr8 144995483 C T missense_variant MODERATE MISSENSE Gac/Aac D2973N 4684 PLEC 19 1240 183 0 20 1240 0 147 36 1199 T G targeted
chr1 78430433 C T splice_acceptor_variant+intron_variant HIGH - - - 644 FUBP1 34 3297 159 0 35 3296 0 104 55 1230 G T targeted
chr1 144618165 G A missense_variant, missense_variant, intron_variant MODERATE, MODERATE, MODIFIER MISSENSE, MISSENSE, - cGc/cAc, cGc/cAc, - R120H, R120H, - 941, 1110, 4963 NBPF8, NBPF9, NBPF20 11 1701 110 0 12 1701 0 97 13 1230 C C targeted
chr1 144618187 G A synonymous_variant, synonymous_variant, intron_variant LOW, LOW, MODIFIER SILENT, SILENT, - caG/caA, caG/caA, - Q127, Q127, - 941, 1110, 4963 NBPF8, NBPF9, NBPF20 26 1481 67 0 27 1481 0 49 18 1230 A G targeted
chr1 145323667 C G missense_variant, intron_variant, intron_variant, intragenic_variant MODERATE, MODIFIER, MODIFIER, MODIFIER MISSENSE, -, -, - gaC/gaG, -, -, - D1243E, -, -, - 3626, 4963, 1110, - NBPF10, NBPF20, NBPF9, NBPF25P 14 1602 155 0 14 1568 0 133 22 1230 A G targeted
chr1 148341920 C A missense_variant, missense_variant, missense_variant, intragenic_variant MODERATE, MODERATE, MODERATE, MODIFIER MISSENSE, MISSENSE, MISSENSE, - tGt/tTt, tGt/tTt, tGt/tTt, - C218F, C218F, C218F, - 942, 2819, 1111, - NBPF8, NBPF14, NBPF9, NBPF25P 9 3514 164 0 10 3514 0 147 16 1230 A A targeted
chr1 152186045 C T missense_variant MODERATE MISSENSE cGc/cAc R2687H 2850 HRNR 42 1423 98 0 43 1423 0 56 42 1230 G G targeted
chr1 152188605 G A stop_gained HIGH NONSENSE Cga/Tga R1834* 2850 HRNR 9 7498 264 0 10 7497 0 238 26 1230 C G targeted
chr11 1265160 C A synonymous_variant LOW SILENT gcC/gcA A2350 5762 MUC5B 27 1639 18 0 28 1638 1 13 5 1230 C G targeted
chr11 92498147 G A missense_variant MODERATE MISSENSE Gat/Aat D1363N 4557 FAT3 48 2316 80 0 49 2316 0 41 39 1230 C A targeted
chr14 104641339 C T synonymous_variant LOW SILENT ggC/ggT G738 1882 KIF26A 40 547 30 0 40 546 0 18 12 1230 G G targeted
chr15 23572507 G A missense_variant MODERATE MISSENSE Cgg/Tgg R503W 660 GOLGA6L22 12 883 56 0 12 880 0 49 7 1230 C T targeted
chr17 11790179 A G missense_variant MODERATE MISSENSE gAg/gGg E3670G 4486 DNAH9 49 1443 101 0 50 1443 0 51 50 1230 G G targeted
chr17 29654534 C T synonymous_variant LOW SILENT gtC/gtT V1762 2839 NF1 10 2733 146 0 10 2733 0 131 15 1230 T C targeted
chr19 8995697 G C missense_variant MODERATE MISSENSE cCt/cGt P13764R 14507 MUC16 32 1369 40 0 32 1369 0 27 13 1230 A G targeted
chr19 9075994 G A missense_variant MODERATE MISSENSE Ccc/Tcc P3818S 14507 MUC16 49 1923 109 0 50 1923 0 55 54 1230 G A targeted
chr19 9088834 G A missense_variant MODERATE MISSENSE gCt/gTt A994V 14507 MUC16 13 3306 144 0 14 3306 0 124 20 1230 A C targeted
chr19 11105531 G A missense_variant MODERATE MISSENSE Gcc/Acc A483T 1679 SMARCA4 19 1693 73 0 19 1693 0 59 14 1230 T C targeted
chr19 40399435 C T missense_variant MODERATE MISSENSE cGa/cAa R2087Q 5405 FCGBP 17 609 47 0 17 609 0 39 8 1230 T G targeted
chr2 209113112 C T missense_variant MODERATE MISSENSE cGt/cAt R132H 414 IDH1 31 2534 135 0 31 2533 1 93 42 1230 A G targeted
chr3 155203243 C T missense_variant MODERATE MISSENSE cGc/cAc R967H 1693 PLCH1 32 1994 103 0 32 1994 0 70 33 1230 G G targeted
chr4 4199737 A G missense_variant MODERATE MISSENSE aTa/aCa I275T 612 OTOP1 40 1946 61 0 41 1944 0 36 25 1230 T T targeted
chr4 187521133 C T missense_variant MODERATE MISSENSE Ggc/Agc G4008S 4588 FAT1 25 2654 128 0 25 2654 0 96 32 1230 C T targeted
chr4 187525704 C T missense_variant MODERATE MISSENSE Gtg/Atg V3459M 4588 FAT1 57 1670 61 0 57 1670 0 26 35 1230 A G targeted
chr5 67591086 A G missense_variant MODERATE MISSENSE gAc/gGc D560G 724 PIK3R1 23 2241 176 0 24 2241 0 134 42 1230 G C targeted
chr6 31729694 G A missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - Gct/Act, - A762T, - 835, - MSH5, MSH5-SAPCD1 10 2010 92 0 11 2010 0 82 10 1230 G C targeted
chr7 100644430 C T missense_variant MODERATE MISSENSE aCg/aTg T3529M 5335 MUC12 56 3020 129 0 57 3019 1 56 73 1230 A G targeted
chrX 34962349 G C missense_variant MODERATE MISSENSE aaG/aaC K467N 645 FAM47B 98 2293 62 0 98 2293 0 1 61 1230 A T targeted
chr1 6530940 G A missense_variant MODERATE MISSENSE gCg/gTg A545V 1085 PLEKHG5 31 453 41 0 32 453 0 28 13 1283 C C targeted
chr1 16894529 C T splice_region_variant+intron_variant LOW - - - 1140 NBPF1 11 7776 1299 0 12 7773 1 1145 152 1283 G A targeted
chr1 144815997 G A synonymous_variant, synonymous_variant, intron_variant LOW, LOW, MODIFIER SILENT, SILENT, - tcG/tcA, tcG/tcA, - S455, S455, - 941, 1110, 4963 NBPF8, NBPF9, NBPF20 78 179 32 0 78 179 0 7 25 1283 C T targeted
chr1 145293420 C T synonymous_variant, intron_variant, intron_variant, intragenic_variant LOW, MODIFIER, MODIFIER, MODIFIER SILENT, -, -, - gcC/gcT, -, -, - A5, -, -, - 3626, 4963, 1110, - NBPF10, NBPF20, NBPF9, NBPF25P 26 7025 702 0 26 7024 0 517 185 1283 C G targeted
chr1 145295450 A C missense_variant, intron_variant, intron_variant, intragenic_variant MODERATE, MODIFIER, MODIFIER, MODIFIER MISSENSE, -, -, - aAa/aCa, -, -, - K68T, -, -, - 3626, 4963, 1110, - NBPF10, NBPF20, NBPF9, NBPF25P 50 1091 179 0 50 1091 0 89 90 1283 A A targeted
chr1 146055420 T G missense_variant, intron_variant, intron_variant, intragenic_variant MODERATE, MODIFIER, MODIFIER, MODIFIER MISSENSE, -, -, - aAa/aCa, -, -, - K122T, -, -, - 919, 4963, 3626, - NBPF11, NBPF20, NBPF10, NBPF25P 17 1701 217 0 17 1701 0 180 37 1283 T T targeted
chr1 198687300 G A missense_variant MODERATE MISSENSE Gac/Aac D510N 1306 PTPRC 28 2289 276 0 28 2289 0 198 78 1283 G A targeted
chr1 248756374 C A missense_variant MODERATE MISSENSE gaG/gaT E232D 312 OR2T10 42 229 19 0 42 229 0 11 8 1283 C T targeted
chr11 1078553 G A missense_variant MODERATE MISSENSE cGc/cAc R254H 2813 MUC2 33 336 24 0 33 335 1 16 8 1283 C C targeted
chr11 117789177 C T missense_variant MODERATE MISSENSE cGa/cAa R133Q 567 TMPRSS13 92 1372 93 0 92 1371 0 7 86 1283 T G targeted
chr14 95556982 G A synonymous_variant LOW SILENT taC/taT Y1874 1922 DICER1 70 1636 239 0 70 1636 0 71 168 1283 C T targeted
chr15 22743596 C T stop_gained+splice_region_variant, stop_gained+splice_region_variant HIGH, HIGH NONSENSE, NONSENSE Cag/Tag, Cag/Tag Q661*, Q649* 668, 656 GOLGA6L1, GOLGA6L22 17 935 75 0 17 934 1 62 13 1283 C A targeted
chr16 2124366 G A missense_variant MODERATE MISSENSE Gtc/Atc V841I 1807 TSC2 89 689 39 0 90 689 0 4 35 1283 C T targeted
chr17 7577548 C T missense_variant MODERATE MISSENSE Ggc/Agc G245S 393 TP53 95 886 49 0 96 886 0 2 47 1283 C G targeted
chr17 39537978 C T missense_variant MODERATE MISSENSE Gac/Aac D182N 436 KRT34 61 179 26 0 62 179 0 10 16 1283 T G targeted
chr19 9015640 T G missense_variant MODERATE MISSENSE gAg/gCg E12728A 14507 MUC16 29 3125 380 0 29 3125 0 269 111 1283 C C targeted
chr19 40382452 C T synonymous_variant LOW SILENT gcG/gcA A3478 5405 FCGBP 37 270 27 0 37 269 0 17 10 1283 G G targeted
chr19 40420016 C T missense_variant MODERATE MISSENSE aGc/aAc S993N 5405 FCGBP 30 1385 136 0 30 1385 0 95 41 1283 G T targeted
chr21 11098910 G A 5_prime_UTR_premature_start_codon_gain_variant, 5_prime_UTR_premature_start_codon_gain_variant, 5_prime_UTR_premature_start_codon_gain_variant, 5_prime_UTR_premature_start_codon_gain_variant, 5_prime_UTR_premature_start_codon_gain_variant LOW, LOW, LOW, LOW, LOW -, -, -, -, - -, -, -, -, - -, -, -, -, - 39, 109, 109, 38, 38 BAGE4, BAGE3, BAGE2, BAGE5, BAGE 13 3135 213 0 13 3134 0 185 28 1283 C G targeted
chr8 121220526 C G missense_variant MODERATE MISSENSE aCt/aGt T416S 1796 COL14A1 47 2311 210 0 48 2310 0 110 100 1283 A T targeted
chr8 144940393 G A synonymous_variant LOW SILENT atC/atT I2343 2420 EPPK1 9 8237 409 0 10 8229 0 370 39 1283 C A targeted
chr8 144940621 C T synonymous_variant LOW SILENT gcG/gcA A2267 2420 EPPK1 11 5002 259 0 12 5002 0 227 31 1283 C G targeted
chrX 99551784 G A missense_variant MODERATE MISSENSE Cgt/Tgt R980C 1148 PCDH19 100 1294 133 0 100 1294 0 0 133 1283 C G targeted
chrX 153187185 G A synonymous_variant LOW SILENT Ctg/Ttg L49 986 ARHGAP4 100 609 46 0 100 609 0 0 46 1283 A C targeted
chr1 120548152 C T missense_variant MODERATE MISSENSE cGc/cAc R72H 2471 NOTCH2 49 1741 231 0 50 1741 0 116 115 1285 G G targeted
chr1 146410035 G C missense_variant, intron_variant, intron_variant, intragenic_variant MODERATE, MODIFIER, MODIFIER, MODIFIER MISSENSE, -, -, - Gct/Cct, -, -, - A631P, -, -, - 1457, 4963, 3626, - NBPF12, NBPF20, NBPF10, NBPF25P 100 940 80 0 100 940 0 0 80 1285 A C targeted
chr1 148589008 C G missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - Caa/Gaa, - Q335E, - 670, - NBPF15, NBPF25P 25 3173 247 0 25 3173 0 185 62 1285 T A targeted
chr1 245848898 C T synonymous_variant LOW SILENT aaC/aaT N871 2108 KIF26B 81 60 11 0 82 60 0 2 9 1285 A G targeted
chr10 89711874 G A splice_acceptor_variant+intron_variant HIGH - - - 403 PTEN 22 2553 277 0 23 2552 0 213 63 1285 A G targeted
chr11 1098687 G A missense_variant MODERATE MISSENSE Gat/Aat D2349N 2813 MUC2 53 744 63 0 54 744 0 29 34 1285 C A targeted
chr17 10215323 C T missense_variant MODERATE MISSENSE aGg/aAg R1479K 1938 MYH13 41 1670 176 0 41 1670 0 103 73 1285 C T targeted
chr17 10300300 T C synonymous_variant, intragenic_variant LOW, MODIFIER SILENT, - aaA/aaG, - K1394, - 1937, - MYH8, MYHAS 26 1120 144 0 26 1120 0 106 38 1285 T T targeted
chr17 10415193 A G missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - aTt/aCt, - I460T, - 1939, - MYH1, MYHAS 46 2846 484 0 46 2844 0 259 225 1285 A T targeted
chr17 11872711 G A missense_variant MODERATE MISSENSE cGc/cAc R4443H 4486 DNAH9 54 1226 149 0 54 1226 0 68 81 1285 C C targeted
chr17 33690405 C T missense_variant MODERATE MISSENSE cGt/cAt R141H 901 SLFN11 61 194 13 0 62 194 0 5 8 1285 A G targeted
chr18 7007235 C G missense_variant MODERATE MISSENSE gGg/gCg G1388A 3075 LAMA1 53 1350 149 0 54 1350 0 69 80 1285 C C targeted
chr19 9089203 T G missense_variant MODERATE MISSENSE aAt/aCt N871T 14507 MUC16 43 1431 120 0 43 1430 0 68 52 1285 A T targeted
chr19 49519883 A G missense_variant MODERATE MISSENSE aTc/aCc I35T 141 LHB 23 885 51 0 24 885 0 39 12 1285 G T targeted
chr19 49535797 A G missense_variant MODERATE MISSENSE Aca/Gca T16A 163 CGB2 29 128 27 0 30 128 0 19 8 1285 G C targeted
chr4 4228246 C T missense_variant MODERATE MISSENSE Gcg/Acg A116T 612 OTOP1 37 330 29 0 38 330 0 18 11 1285 G G targeted
chr4 55971099 G A synonymous_variant LOW SILENT agC/agT S566 1356 KDR 49 2405 375 0 49 2405 0 190 184 1285 C C targeted
chr4 151511935 G A synonymous_variant LOW SILENT aaC/aaT N2052 2863 LRBA 50 2771 457 0 50 2771 0 226 230 1285 C T targeted
chr4 187630234 C T missense_variant MODERATE MISSENSE Gcc/Acc A250T 4588 FAT1 48 2621 357 0 48 2620 0 184 173 1285 G C targeted
chr5 79950733 C G missense_variant MODERATE MISSENSE Ccc/Gcc P63A 1137 MSH3 11 968 106 0 11 967 0 93 12 1285 G C targeted
chr6 83075198 C T missense_variant MODERATE MISSENSE Ccc/Tcc P174S 420 TPBG 57 1720 163 0 57 1720 0 70 93 1285 T C targeted
chr7 55210007 G C synonymous_variant LOW SILENT acG/acC T39 1210 EGFR 40 2652 466 0 40 2651 0 279 187 1285 C C targeted
chr7 100636234 C A missense_variant MODERATE MISSENSE aCc/aAc T797N 5335 MUC12 17 5644 903 0 17 5644 0 745 158 1285 A C targeted
chr7 100641131 G A synonymous_variant LOW SILENT acG/acA T2429 5335 MUC12 9 1205 195 0 10 1198 0 176 19 1285 C C targeted
chr7 100679008 T C synonymous_variant LOW SILENT ccT/ccC P1437 4493 MUC17 41 4016 469 0 41 4013 1 275 194 1285 C A targeted
chr7 116415105 C A missense_variant MODERATE MISSENSE Cag/Aag Q1085K 1408 MET 37 2184 324 0 37 2184 0 204 120 1285 G A targeted
chrX 103358962 C A missense_variant, intron_variant MODERATE, MODIFIER MISSENSE, - Cca/Aca, - P54T, - 403, 307 ZCCHC18, SLC25A53 15 531 91 0 15 531 0 77 14 1285 G C targeted
chrX 148585738 A G synonymous_variant LOW SILENT aaT/aaC N63 550 IDS 54 889 192 0 55 888 1 87 105 1285 T T targeted
chr10 89720670 G A stop_gained HIGH NONSENSE tGg/tAg W274* 403 PTEN 63 1165 119 0 64 1157 0 42 76 1346 T G targeted
chr17 29548948 G A splice_donor_variant+intron_variant HIGH - - - 2839 NF1 58 1474 124 0 59 1474 0 51 73 1346 G T targeted
chr2 48030832 A C splice_region_variant+intron_variant LOW - - - 1360 MSH6 32 2416 233 0 32 2414 0 158 75 1346 G T targeted
chr5 19483435 A T synonymous_variant LOW SILENT atT/atA I619 790 CDH18 36 1946 189 0 37 1945 0 120 69 1346 G A targeted
chr1 198678886 C T synonymous_variant LOW SILENT gaC/gaT D368 1306 PTPRC 37 2365 288 0 38 2364 0 179 109 1370 A T targeted
chr1 228452066 G A missense_variant MODERATE MISSENSE cGg/cAg R1796Q 8923 OBSCN 40 1919 220 0 40 1919 0 132 88 1370 C G targeted
chr19 8959522 C T splice_region_variant LOW - - - 14507 MUC16 15 619 104 0 15 619 0 88 16 1370 C G targeted
chr3 178947827 G T missense_variant MODERATE MISSENSE tGt/tTt C901F 1068 PIK3CA 20 3444 342 0 20 3444 0 273 69 1370 T T targeted
chr4 1807890 A C missense_variant MODERATE MISSENSE aAg/aCg K652T 808 FGFR3 13 1527 293 0 14 1525 0 252 41 1370 A G targeted
chr9 116268715 C T stop_gained HIGH NONSENSE Cag/Tag Q343* 1198 RGS3 34 744 93 0 34 744 0 61 32 1370 G A targeted
chr1 11273525 G A synonymous_variant LOW SILENT ccC/ccT P1072 2549 MTOR 14 2244 279 0 14 2242 1 238 40 1460 G G targeted
chr1 16895623 G A synonymous_variant LOW SILENT agC/agT S853 1140 NBPF1 11 5709 685 0 12 5709 0 604 81 1460 C C targeted
chr1 16909053 T G missense_variant MODERATE MISSENSE cAg/cCg Q431P 1140 NBPF1 17 723 69 0 17 723 0 57 12 1460 C G targeted
chr1 51171561 G A missense_variant+splice_region_variant MODERATE MISSENSE gCc/gTc A185V 650 FAF1 12 1936 253 0 12 1936 0 222 31 1460 G C targeted
chr1 78429798 G A synonymous_variant LOW SILENT gaC/gaT D330 644 FUBP1 16 2839 415 0 17 2837 1 346 69 1460 G T targeted
chr1 144618165 G A missense_variant, missense_variant, intron_variant MODERATE, MODERATE, MODIFIER MISSENSE, MISSENSE, - cGc/cAc, cGc/cAc, - R120H, R120H, - 941, 1110, 4963 NBPF8, NBPF9, NBPF20 10 1701 257 0 11 1701 0 229 28 1460 C C targeted
chr1 145304652 G A missense_variant+splice_region_variant, intron_variant, intron_variant, intragenic_variant MODERATE, MODIFIER, MODIFIER, MODIFIER MISSENSE, -, -, - Gaa/Aaa, -, -, - E529K, -, -, - 3626, 4963, 1110, - NBPF10, NBPF20, NBPF9, NBPF25P 12 3162 427 0 13 3160 0 372 55 1460 A G targeted
chr1 148341920 C A missense_variant, missense_variant, missense_variant, intragenic_variant MODERATE, MODERATE, MODERATE, MODIFIER MISSENSE, MISSENSE, MISSENSE, - tGt/tTt, tGt/tTt, tGt/tTt, - C218F, C218F, C218F, - 942, 2819, 1111, - NBPF8, NBPF14, NBPF9, NBPF25P 12 3514 600 0 13 3514 0 523 77 1460 A A targeted
chr1 152186551 G A synonymous_variant LOW SILENT ggC/ggT G2518 2850 HRNR 23 3297 113 0 24 3297 0 86 27 1460 A C targeted
chr1 169509844 G A missense_variant MODERATE MISSENSE tCt/tTt S1495F 2224 F5 46 2403 371 0 47 2402 0 197 174 1460 A A targeted
chr1 169529906 T C missense_variant MODERATE MISSENSE Agt/Ggt S158G 2224 F5 49 1420 160 0 49 1420 0 81 79 1460 C G targeted
chr1 228403264 C T missense_variant+splice_region_variant MODERATE MISSENSE gCc/gTc A610V 8923 OBSCN 49 656 73 0 49 656 0 37 36 1460 G C targeted
chr1 228412207 C T stop_gained HIGH NONSENSE Cag/Tag Q993* 8923 OBSCN 47 2649 262 0 47 2649 0 138 124 1460 G A targeted
chr1 228464746 G T splice_region_variant+intron_variant LOW - - - 8923 OBSCN 45 2001 191 0 45 2001 0 105 86 1460 T C targeted
chr1 228479593 C T splice_region_variant+intron_variant LOW - - - 8923 OBSCN 14 1423 184 0 15 1423 0 157 27 1460 C C targeted
chr1 228560403 C T synonymous_variant LOW SILENT aaC/aaT N8265 8923 OBSCN 34 1678 153 0 35 1677 0 100 53 1460 A C targeted
chr10 19422868 G A synonymous_variant LOW SILENT aaG/aaA K398 2156 MALRD1 13 1876 168 0 13 1875 1 145 22 1460 A A targeted
chr10 89653782 A G missense_variant+splice_region_variant MODERATE MISSENSE tAt/tGt Y27C 403 PTEN 79 2676 246 0 80 2675 1 50 196 1460 G T targeted
chr10 123353326 G A synonymous_variant LOW SILENT gtC/gtT V2 822 FGFR2 11 2599 163 0 12 2598 0 144 19 1460 T A targeted
chr11 1084736 G A missense_variant MODERATE MISSENSE tGc/tAc C844Y 2813 MUC2 25 566 76 0 25 566 0 57 19 1460 T C targeted
chr11 1262136 C T synonymous_variant LOW SILENT agC/agT S1342 5762 MUC5B 18 880 99 0 18 880 0 81 18 1460 G T targeted
chr11 1264338 G A stop_gained HIGH NONSENSE tgG/tgA W2076* 5762 MUC5B 43 2913 251 0 43 2911 1 142 109 1460 G A targeted
chr11 1266519 G A synonymous_variant LOW SILENT caG/caA Q2803 5762 MUC5B 47 2374 188 0 47 2374 0 99 89 1460 A C targeted
chr11 62285019 C T missense_variant MODERATE MISSENSE Gtg/Atg V5624M 5890 AHNAK 14 2812 309 0 14 2812 0 265 44 1460 A C targeted
chr11 65623441 C T synonymous_variant LOW SILENT aaG/aaA K92 166 CFL1 10 1770 184 0 10 1770 0 165 19 1460 C T targeted
chr11 92577100 G A missense_variant+splice_region_variant MODERATE MISSENSE Gca/Aca A3523T 4557 FAT3 14 3058 362 0 15 3057 0 307 54 1460 G C targeted
chr11 92616063 C T synonymous_variant LOW SILENT caC/caT H4147 4557 FAT3 45 995 88 0 45 995 0 48 40 1460 A T targeted
chr11 108138064 C T missense_variant MODERATE MISSENSE aCc/aTc T878I 3056 ATM 19 1904 301 0 20 1904 0 241 60 1460 A C targeted
chr11 108202167 G A splice_region_variant+intron_variant LOW - - - 3056 ATM 46 1795 283 0 47 1795 0 150 133 1460 G T targeted
chr12 22065922 G A missense_variant MODERATE MISSENSE Ctt/Ttt L299F 1549 ABCC9 10 1274 188 0 10 1274 0 169 19 1460 A T targeted
chr12 69230509 G A missense_variant MODERATE MISSENSE Gat/Aat D300N 497 MDM2 10 1632 249 0 11 1632 0 222 27 1460 A A targeted
chr12 109025847 G A 5_prime_UTR_premature_start_codon_gain_variant LOW - - - 428 SELPLG 11 693 72 0 11 693 0 64 8 1460 C G targeted
chr12 112888189 G A missense_variant MODERATE MISSENSE Gag/Aag E69K 593 PTPN11 10 2648 353 0 11 2648 0 315 38 1460 G A targeted
chr12 124399435 C T synonymous_variant LOW SILENT tcC/tcT S3419 4471 DNAH10 45 1325 137 0 46 1325 0 74 63 1460 C G targeted
chr13 110437601 G A missense_variant MODERATE MISSENSE cCc/cTc P267L 1338 IRS2 18 772 50 0 18 772 0 41 9 1460 G G targeted
chr14 23897781 C T synonymous_variant LOW SILENT aaG/aaA K502 1935 MYH7 22 1165 148 0 22 1165 0 115 33 1460 T T targeted
chr16 2134651 G A synonymous_variant LOW SILENT gaG/gaA E1476 1807 TSC2 27 646 59 0 27 645 0 43 16 1460 A A targeted
chr17 7578205 C T missense_variant MODERATE MISSENSE aGt/aAt S215N 393 TP53 10 1734 119 0 10 1734 0 107 12 1460 A T targeted
chr17 7578479 G A missense_variant MODERATE MISSENSE Ccc/Tcc P151S 393 TP53 16 1249 68 0 16 1248 0 57 11 1460 G T targeted
chr17 10416000 C T missense_variant+splice_region_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - Gat/Aat, - D336N, - 1939, - MYH1, MYHAS 21 1273 226 0 22 1273 0 177 49 1460 T T targeted
chr17 10438476 C T synonymous_variant, intragenic_variant LOW, MODIFIER SILENT, - caG/caA, - Q698, - 1941, - MYH2, MYHAS 40 1986 271 0 41 1985 0 160 111 1460 G T targeted
chr17 11513786 G A missense_variant MODERATE MISSENSE Gtg/Atg V230M 4486 DNAH9 46 1531 198 0 47 1531 0 105 93 1460 G T targeted
chr17 11783483 C T missense_variant MODERATE MISSENSE Ccc/Tcc P3523S 4486 DNAH9 19 2145 263 0 19 2144 0 213 50 1460 A C targeted
chr17 33772143 G A missense_variant MODERATE MISSENSE tCa/tTa S186L 897 SLFN13 43 3304 447 0 43 3303 0 253 193 1460 T A targeted
chr17 34746937 A G missense_variant, missense_variant, missense_variant MODERATE, MODERATE, MODERATE MISSENSE, MISSENSE, MISSENSE Tgc/Cgc, Tgc/Cgc, Tgc/Cgc C383R, C383R, C383R 549, 549, 549 TBC1D3H, LOC101060321, TBC1D3F 100 152 17 0 100 152 0 0 17 1460 C G targeted
chr17 37866343 G A synonymous_variant LOW SILENT acG/acA T216 1255 ERBB2 53 884 77 0 53 884 0 36 41 1460 C C targeted
chr17 44590360 G A synonymous_variant, intragenic_variant LOW, MODIFIER SILENT, - gaG/gaA, - E94, - 1700, - LRRC37A2, ARL17A 13 887 52 0 13 887 0 45 7 1460 A A targeted
chr17 51902186 G A missense_variant MODERATE MISSENSE Gtt/Att V598I 673 KIF2B 16 1522 209 0 16 1522 0 175 34 1460 G T targeted
chr19 8974094 G A missense_variant MODERATE MISSENSE Ccc/Tcc P14193S 14507 MUC16 25 1213 221 0 25 1211 1 165 56 1460 G T targeted
chr19 9001846 G A synonymous_variant LOW SILENT Ctg/Ttg L13468 14507 MUC16 28 1297 248 0 28 1296 0 178 70 1460 A G targeted
chr19 9070522 G A missense_variant MODERATE MISSENSE Cct/Tct P5642S 14507 MUC16 29 1779 308 0 30 1778 1 217 91 1460 G G targeted
chr19 55874067 G A missense_variant MODERATE MISSENSE Cac/Tac H62Y 922 FAM71E2 34 912 55 0 35 912 0 36 19 1460 T A targeted
chr19 55874104 G A splice_region_variant+intron_variant LOW - - - 922 FAM71E2 10 973 60 0 10 973 0 54 6 1460 G G targeted
chr2 48027614 C T missense_variant MODERATE MISSENSE cCc/cTc P831L 1360 MSH6 43 2775 367 0 43 2773 1 209 158 1460 C C targeted
chr2 48028084 C T missense_variant MODERATE MISSENSE Cgc/Tgc R988C 1360 MSH6 18 3093 388 0 19 3093 0 316 72 1460 T G targeted
chr2 48032777 G A missense_variant MODERATE MISSENSE Gaa/Aaa E1193K 1360 MSH6 37 2327 324 0 37 2325 0 202 121 1460 T A targeted
chr2 48033436 C T missense_variant MODERATE MISSENSE aCt/aTt T1247I 1360 MSH6 43 3308 448 0 44 3306 0 252 196 1460 A T targeted
chr2 84937495 G A missense_variant MODERATE MISSENSE Gag/Aag E3113K 4158 DNAH6 46 2842 347 0 46 2839 1 186 160 1460 C A targeted
chr2 167055376 C G missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - Gat/Cat, - D1914H, - 1977, - SCN9A, LOC101929680 40 2428 297 0 40 2427 1 177 120 1460 T A targeted
chr2 167141277 G A missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - Ctt/Ttt, - L554F, - 1977, - SCN9A, LOC101929680 37 1839 191 0 38 1839 0 119 72 1460 A A targeted
chr2 218999762 C T missense_variant MODERATE MISSENSE Cgc/Tgc R80C 360 CXCR2 53 1859 198 0 53 1859 0 93 105 1460 C G targeted
chr3 10078024 G A splice_donor_variant+intron_variant HIGH - - - 1471 FANCD2 11 3226 502 0 12 3226 0 442 60 1460 A T targeted
chr3 47127690 C T missense_variant MODERATE MISSENSE Gaa/Aaa E1798K 2564 SETD2 13 2577 329 0 14 2575 0 284 45 1460 T C targeted
chr3 138382870 C T missense_variant+splice_region_variant MODERATE MISSENSE Gat/Aat D892N 1070 PIK3CB 11 1936 249 0 12 1935 0 220 29 1460 T C targeted
chr4 71346932 G A synonymous_variant LOW SILENT gtG/gtA V157 377 MUC7 45 3485 337 0 45 3485 0 185 152 1460 T A targeted
chr4 114277308 G A missense_variant MODERATE MISSENSE Gac/Aac D2512N 3957 ANK2 15 2577 277 0 15 2575 0 235 42 1460 A A targeted
chr4 151604859 G A missense_variant MODERATE MISSENSE gCc/gTc A1922V 2863 LRBA 23 1705 216 0 24 1704 1 165 51 1460 G C targeted
chr4 187524328 A G splice_donor_variant+intron_variant HIGH - - - 4588 FAT1 35 1655 192 0 35 1654 1 124 68 1460 T C targeted
chr4 187542864 C T missense_variant MODERATE MISSENSE Gat/Aat D1626N 4588 FAT1 21 3153 438 0 21 3153 0 345 92 1460 T T targeted
chr5 1443205 C T synonymous_variant LOW SILENT gaG/gaA E36 620 SLC6A3 23 867 78 0 23 867 0 60 18 1460 G T targeted
chr5 11159772 C T missense_variant MODERATE MISSENSE gGc/gAc G692D 1225 CTNND2 16 1628 189 0 17 1628 0 157 32 1460 G C targeted
chr5 79950733 C G missense_variant MODERATE MISSENSE Ccc/Gcc P63A 1137 MSH3 11 968 67 0 12 967 0 58 8 1460 G C targeted
chr5 101834361 C T missense_variant MODERATE MISSENSE gGt/gAt G63D 719 SLCO6A1 20 2236 206 0 20 2236 0 164 42 1460 A C targeted
chr5 149502615 G A missense_variant MODERATE MISSENSE Ccc/Tcc P725S 1106 PDGFRB 42 810 104 0 42 810 0 60 44 1460 G G targeted
chr5 150885425 G A synonymous_variant LOW SILENT Ctg/Ttg L4251 4349 FAT2 15 1074 119 0 15 1074 0 101 18 1460 A A targeted
chr6 31729258 C T missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - Ctc/Ttc, - L684F, - 835, - MSH5, MSH5-SAPCD1 27 809 69 0 28 808 0 50 19 1460 G T targeted
chr6 51893062 G A missense_variant MODERATE MISSENSE cCg/cTg P1151L 4074 PKHD1 45 1626 175 0 45 1625 1 96 79 1460 C G targeted
chr6 75812318 C T missense_variant MODERATE MISSENSE Gag/Aag E2804K 3063 COL12A1 39 1186 162 0 40 1186 0 98 64 1460 T T targeted
chr6 75866161 C T missense_variant MODERATE MISSENSE gGg/gAg G1021E 3063 COL12A1 18 2664 336 0 19 2664 0 273 63 1460 C C targeted
chr6 75884850 C T missense_variant MODERATE MISSENSE Gga/Aga G872R 3063 COL12A1 40 3223 382 0 41 3223 0 226 156 1460 C C targeted
chr6 75899097 C T missense_variant+splice_region_variant MODERATE MISSENSE gGg/gAg G220E 3063 COL12A1 47 2652 382 0 47 2651 0 202 180 1460 C C targeted
chr6 106649919 C T missense_variant MODERATE MISSENSE Gct/Act A207T 275 ATG5 15 1973 298 0 15 1973 0 252 46 1460 G C targeted
chr7 6043666 C T missense_variant MODERATE MISSENSE Gtg/Atg V63M 862 PMS2 23 1896 445 0 24 1896 0 340 105 1460 A T targeted
chr7 6045655 G A missense_variant MODERATE MISSENSE Cct/Tct P11S 862 PMS2 30 2047 469 0 31 2047 0 325 144 1460 G T targeted
chr7 48390389 C T missense_variant MODERATE MISSENSE Ctc/Ttc L3452F 5058 ABCA13 12 1906 322 0 12 1906 0 282 40 1460 A T targeted
chr7 55221822 C T missense_variant MODERATE MISSENSE gCc/gTc A289V 1210 EGFR 20 2000 4701 0 21 2000 0 3730 970 1460 G C targeted
chr7 55224307 C T missense_variant MODERATE MISSENSE aCc/aTc T363I 1210 EGFR 20 2406 6707 0 21 2406 0 5325 1382 1460 A C targeted
chr7 55266463 C T missense_variant MODERATE MISSENSE Cct/Tct P919S 1210 EGFR 12 2950 7311 0 13 2948 1 6383 925 1460 C C targeted
chr7 100680907 C T synonymous_variant LOW SILENT gaC/gaT D2070 4493 MUC17 25 3674 654 0 25 3674 0 488 166 1460 A T targeted
chr7 107592532 G A synonymous_variant LOW SILENT acC/acT T1072 1786 LAMB1 13 1290 199 0 13 1290 0 173 26 1460 A G targeted
chr7 131194331 G A synonymous_variant LOW SILENT atC/atT I272 558 PODXL 11 1329 195 0 12 1329 0 172 23 1460 A A targeted
chr7 140434495 G A missense_variant MODERATE MISSENSE Cgg/Tgg R735W 766 BRAF 12 1217 317 0 13 1216 1 277 40 1460 C A targeted
chr7 140439724 C T missense_variant MODERATE MISSENSE gGa/gAa G672E 766 BRAF 28 1739 301 0 29 1739 0 214 87 1460 T C targeted
chr8 77765537 C T missense_variant MODERATE MISSENSE tCt/tTt S2127F 3616 ZFHX4 19 2644 353 0 19 2644 0 284 68 1460 T T targeted
chr8 103573042 G A missense_variant MODERATE MISSENSE aGc/aAc S228N 250 ODF1 38 2419 327 0 39 2419 0 172 127 1460 A C targeted
chr8 144940621 C T synonymous_variant LOW SILENT gcG/gcA A2267 2420 EPPK1 11 5002 267 0 12 5002 0 235 32 1460 C G targeted
chr8 144944919 C T missense_variant MODERATE MISSENSE Gag/Aag E835K 2420 EPPK1 10 991 88 0 10 991 0 79 9 1460 T C targeted
chrX 3229427 G A missense_variant MODERATE MISSENSE Ccc/Tcc P2273S 2828 MXRA5 14 1789 122 0 15 1789 0 104 18 1460 G A targeted
chrX 9864496 G A missense_variant MODERATE MISSENSE Gac/Aac D850N 1616 SHROOM2 15 1293 78 0 15 1293 0 66 12 1460 G A targeted
chrX 9900788 G A synonymous_variant LOW SILENT aaG/aaA K1155 1616 SHROOM2 100 1563 91 0 100 1563 0 0 91 1460 A C targeted
chrX 39933641 C T missense_variant MODERATE MISSENSE Gcg/Acg A320T 1755 BCOR 39 835 41 0 39 835 0 25 16 1460 G C targeted
chrX 99551343 G A missense_variant MODERATE MISSENSE Ccc/Tcc P1127S 1148 PCDH19 9 2068 142 0 10 2067 0 128 14 1460 G G targeted
chrX 153587998 G A synonymous_variant LOW SILENT gaC/gaT D1332 2647 FLNA 93 636 29 0 93 636 0 2 27 1460 C T targeted
chr1 152328096 G A synonymous_variant, intragenic_variant LOW, MODIFIER SILENT, - caC/caT, - H722, - 2391, - FLG2, FLG-AS1 19 4418 796 0 19 4416 1 642 154 1475 C T targeted
chr10 95088662 T C synonymous_variant LOW SILENT ggA/ggG G1663 2061 MYOF 33 721 80 0 34 721 0 53 27 1475 C C targeted
chr11 1276368 C T synonymous_variant LOW SILENT gaC/gaT D5254 5762 MUC5B 22 847 267 0 23 847 0 206 61 1475 A A targeted
chr17 7578443 A T missense_variant MODERATE MISSENSE Tac/Aac Y163N 393 TP53 74 1459 426 0 75 1459 0 108 318 1475 T G targeted
chr17 51902147 C A missense_variant MODERATE MISSENSE Cct/Act P585T 673 KIF2B 17 1731 376 0 17 1731 0 311 65 1475 A C targeted
chr19 9060773 C T missense_variant MODERATE MISSENSE atG/atA M8891I 14507 MUC16 10 2396 442 0 10 2395 0 397 45 1475 T A targeted
chr19 9069543 G T missense_variant MODERATE MISSENSE aCc/aAc T5968N 14507 MUC16 16 2432 457 0 17 2431 1 380 77 1475 G T targeted
chr2 209113112 C T missense_variant MODERATE MISSENSE cGt/cAt R132H 414 IDH1 28 2534 351 0 28 2533 1 251 100 1475 A G targeted
chr20 39795024 G T stop_gained HIGH NONSENSE Gag/Tag E664* 1291 PLCG1 14 1946 510 0 14 1945 0 437 73 1475 C A targeted
chr3 178952085 A G missense_variant MODERATE MISSENSE cAt/cGt H1047R 1068 PIK3CA 19 2843 672 0 19 2843 0 543 129 1475 C T targeted
chr7 48556478 G A splice_donor_variant+intron_variant HIGH - - - 5058 ABCA13 15 2985 628 0 16 2985 0 530 98 1475 G T targeted
chr7 140476880 C T missense_variant MODERATE MISSENSE cGa/cAa R509Q 766 BRAF 12 1470 290 0 13 1470 0 252 37 1475 T G targeted
chrX 76888780 A C stop_gained HIGH NONSENSE taT/taG Y1683* 2492 ATRX 77 2508 449 0 77 2508 0 102 347 1475 C T targeted
chr1 22161438 G A missense_variant+splice_region_variant MODERATE MISSENSE gCc/gTc A3486V 4392 HSPG2 29 1521 172 0 30 1521 0 121 51 1495 G C targeted
chr1 22191335 C T splice_donor_variant+intron_variant HIGH - - - 4392 HSPG2 34 341 29 0 34 341 0 19 10 1495 A C targeted
chr1 22207940 C T synonymous_variant LOW SILENT caG/caA Q571 4392 HSPG2 28 1153 106 0 28 1153 0 76 30 1495 G T targeted
chr1 27106359 C T synonymous_variant LOW SILENT agC/agT S1990 2285 ARID1A 32 2592 293 0 32 2591 1 198 95 1495 G C targeted
chr1 115252252 C T missense_variant MODERATE MISSENSE Gcc/Acc A130T 189 NRAS 31 2457 328 0 32 2457 0 224 104 1495 G T targeted
chr1 152084331 C T synonymous_variant LOW SILENT agG/agA R454 1943 TCHH 31 2453 193 0 31 2453 0 131 60 1495 G C targeted
chr1 152191334 G A missense_variant MODERATE MISSENSE tCt/tTt S924F 2850 HRNR 30 4123 431 0 31 4120 0 298 132 1495 A A targeted
chr1 152191690 G A synonymous_variant LOW SILENT ggC/ggT G805 2850 HRNR 32 3263 339 0 33 3262 1 228 111 1495 G C targeted
chr1 152323333 G A missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - tCt/tTt, - S2310F, - 2391, - FLG2, FLG-AS1 28 3927 491 0 28 3922 0 353 138 1495 A A targeted
chr1 152327383 C T missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - gGc/gAc, - G960D, - 2391, - FLG2, FLG-AS1 28 4581 538 0 28 4580 0 385 153 1495 G C targeted
chr1 157737056 G T missense_variant MODERATE MISSENSE gCc/gAc A376D 508 FCRL2 34 2303 289 0 35 2302 0 189 100 1495 G C targeted
chr1 160535305 T C missense_variant MODERATE MISSENSE Aat/Gat N93D 345 CD84 32 3387 446 0 33 3386 0 301 145 1495 T G targeted
chr1 198711423 C T missense_variant MODERATE MISSENSE gCc/gTc A875V 1306 PTPRC 29 2293 275 0 29 2293 0 195 80 1495 G C targeted
chr1 215848794 G A synonymous_variant LOW SILENT gcC/gcT A4153 5202 USH2A 26 2054 234 0 27 2054 0 171 63 1495 G G targeted
chr1 216373030 C T synonymous_variant LOW SILENT aaG/aaA K1250 5202 USH2A 41 2206 266 0 42 2205 0 155 111 1495 T T targeted
chr1 228431084 G T missense_variant MODERATE MISSENSE Gca/Tca A1136S 8923 OBSCN 28 1833 173 0 29 1832 1 123 50 1495 G C targeted
chr1 228461658 C T synonymous_variant LOW SILENT acC/acT T2150 8923 OBSCN 27 774 96 0 27 774 0 70 26 1495 C C targeted
chr1 228467139 G A missense_variant MODERATE MISSENSE Gtc/Atc V2893I 8923 OBSCN 45 502 42 0 45 502 0 23 19 1495 G T targeted
chr1 228493059 G A synonymous_variant LOW SILENT gaG/gaA E4834 8923 OBSCN 36 2155 242 0 36 2155 0 154 88 1495 A A targeted
chr1 228505335 G A missense_variant MODERATE MISSENSE Gga/Aga G5535R 8923 OBSCN 29 744 57 0 30 744 0 40 17 1495 T G targeted
chr1 228559273 G A missense_variant MODERATE MISSENSE Gag/Aag E7889K 8923 OBSCN 25 842 66 0 26 842 0 49 17 1495 G A targeted
chr10 19896715 G T missense_variant MODERATE MISSENSE aGc/aTc S1985I 2156 MALRD1 70 1983 135 0 70 1982 1 40 95 1495 A C targeted
chr10 89692896 G A missense_variant MODERATE MISSENSE gGa/gAa G127E 403 PTEN 51 3669 270 0 52 3668 1 130 140 1495 G A targeted
chr10 95082863 C T missense_variant MODERATE MISSENSE Gag/Aag E1810K 2061 MYOF 60 1640 132 0 61 1640 0 52 80 1495 T T targeted
chr11 17118693 G A missense_variant MODERATE MISSENSE Cct/Tct P1413S 1686 PIK3C2A 31 2628 369 0 31 2628 0 254 115 1495 G T targeted
chr11 62293268 G A missense_variant MODERATE MISSENSE cCc/cTc P2874L 5890 AHNAK 34 4241 513 0 34 4240 1 337 176 1495 G G targeted
chr11 62293926 C T missense_variant MODERATE MISSENSE Ggc/Agc G2655S 5890 AHNAK 42 4333 535 0 42 4333 0 310 225 1495 C C targeted
chr11 62299698 C T missense_variant MODERATE MISSENSE Gtg/Atg V731M 5890 AHNAK 27 4008 504 0 27 4008 0 367 137 1495 A T targeted
chr11 92495273 C T synonymous_variant LOW SILENT gaC/gaT D1307 4557 FAT3 33 2389 315 0 33 2387 0 210 105 1495 A C targeted
chr11 92538357 C T stop_gained HIGH NONSENSE Caa/Taa Q2979* 4557 FAT3 29 1707 210 0 29 1707 0 149 61 1495 G A targeted
chr11 108121665 C T synonymous_variant LOW SILENT acC/acT T491 3056 ATM 28 2848 373 0 28 2847 1 268 105 1495 C T targeted
chr11 117389391 C T missense_variant MODERATE MISSENSE Gcc/Acc A494T 2113 DSCAML1 27 953 84 0 27 953 0 61 23 1495 G G targeted
chr12 21962838 G A synonymous_variant LOW SILENT gcC/gcT A1421 1549 ABCC9 35 1771 214 0 36 1771 0 138 76 1495 A G targeted
chr12 21998712 C T missense_variant MODERATE MISSENSE aGg/aAg R974K 1549 ABCC9 41 3141 425 0 42 3141 0 248 177 1495 C T targeted
chr12 69203038 C T missense_variant MODERATE MISSENSE aCc/aTc T22I 497 MDM2 37 3354 426 0 37 3354 0 267 159 1495 A C targeted
chr13 35747710 G A synonymous_variant LOW SILENT gtG/gtA V1511 2946 NBEA 37 1703 199 0 37 1703 0 125 74 1495 T A targeted
chr13 36180591 C T missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - cCa/cTa, - P2442L, - 2946, - NBEA, MIR548F5 31 2566 387 0 32 2565 1 264 123 1495 C A targeted
chr13 36229030 C T missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - Ctc/Ttc, - L2671F, - 2946, - NBEA, MIR548F5 39 2834 316 0 40 2833 0 190 126 1495 C T targeted
chr13 49039243 C T missense_variant MODERATE MISSENSE aCc/aTc T774I 928 RB1 30 2208 322 0 30 2207 0 225 97 1495 A C targeted
chr14 104640172 C T missense_variant MODERATE MISSENSE gCc/gTc A666V 1882 KIF26A 39 440 41 0 39 440 0 25 16 1495 G C targeted
chr14 104642872 G A synonymous_variant LOW SILENT gaG/gaA E1249 1882 KIF26A 46 750 84 0 46 750 0 45 39 1495 A T targeted
chr15 57545530 G A missense_variant MODERATE MISSENSE gGa/gAa G444E 706 TCF12 39 1855 231 0 40 1853 1 139 92 1495 G A targeted
chr17 10253951 C T missense_variant MODERATE MISSENSE Gga/Aga G356R 1938 MYH13 41 2257 328 0 41 2257 0 192 136 1495 C C targeted
chr17 10300176 C T missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - Gaa/Aaa, - E1436K, - 1937, - MYH8, MYHAS 33 1857 193 0 34 1856 0 128 65 1495 T C targeted
chr17 11687033 G A missense_variant MODERATE MISSENSE Gca/Aca A2597T 4486 DNAH9 31 3168 400 0 32 3167 0 273 127 1495 G C targeted
chr17 33680969 C T synonymous_variant LOW SILENT cgG/cgA R436 901 SLFN11 20 865 151 0 21 865 0 120 31 1495 C C targeted
chr17 33767632 G A synonymous_variant LOW SILENT caC/caT H892 897 SLFN13 23 2581 458 0 23 2580 0 351 107 1495 G T targeted
chr17 44592473 C T missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - Cct/Tct, - P799S, - 1700, - LRRC37A2, ARL17A 27 624 61 0 28 623 0 44 17 1495 A C targeted
chr17 44626068 G A missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - aGg/aAg, - R1188K, - 1700, - LRRC37A2, ARL17A 23 2036 326 0 23 2036 0 251 75 1495 A G targeted
chr18 7034677 T A missense_variant MODERATE MISSENSE Act/Tct T618S 3075 LAMA1 35 1984 251 0 35 1983 0 162 89 1495 G G targeted
chr19 9009314 G A synonymous_variant LOW SILENT aaC/aaT N13053 14507 MUC16 12 4450 798 0 13 4450 0 696 102 1495 A T targeted
chr19 9021150 G A synonymous_variant LOW SILENT acC/acT T12391 14507 MUC16 10 5341 1015 0 11 5340 1 906 109 1495 G G targeted
chr19 9060387 C T missense_variant MODERATE MISSENSE aGc/aAc S9020N 14507 MUC16 25 2033 344 0 25 2032 1 257 87 1495 G T targeted
chr19 9062812 C T missense_variant MODERATE MISSENSE Gag/Aag E8212K 14507 MUC16 32 2493 449 0 32 2492 0 304 145 1495 T T targeted
chr19 9069172 C T missense_variant MODERATE MISSENSE Gag/Aag E6092K 14507 MUC16 23 2143 369 0 23 2143 0 284 85 1495 T T targeted
chr19 9071972 G A synonymous_variant LOW SILENT acC/acT T5158 14507 MUC16 22 2731 511 0 23 2731 0 395 116 1495 T G targeted
chr19 9076568 G A synonymous_variant LOW SILENT gaC/gaT D3626 14507 MUC16 21 3180 587 0 22 3179 0 459 128 1495 A T targeted
chr19 9083333 C T missense_variant MODERATE MISSENSE Gcc/Acc A2828T 14507 MUC16 22 1656 269 0 23 1656 0 208 61 1495 G T targeted
chr19 9086662 C T missense_variant MODERATE MISSENSE gGa/gAa G1718E 14507 MUC16 18 2368 452 0 19 2368 0 368 84 1495 T C targeted
chr19 9087991 G T missense_variant MODERATE MISSENSE cCt/cAt P1275H 14507 MUC16 30 2167 406 0 30 2167 0 284 122 1495 A G targeted
chr19 9090562 G A missense_variant MODERATE MISSENSE aCc/aTc T418I 14507 MUC16 23 1758 279 0 23 1758 0 214 65 1495 G T targeted
chr19 11098385 G A synonymous_variant LOW SILENT aaG/aaA K301 1679 SMARCA4 25 1117 151 0 25 1117 0 113 38 1495 A C targeted
chr19 11152183 C T synonymous_variant LOW SILENT aaC/aaT N1489 1679 SMARCA4 19 923 168 0 19 923 0 136 32 1495 A C targeted
chr19 40402165 G A missense_variant MODERATE MISSENSE tCc/tTc S1745F 5405 FCGBP 25 451 55 0 25 451 0 41 14 1495 G A targeted
chr19 40411768 C T missense_variant MODERATE MISSENSE gGc/gAc G1287D 5405 FCGBP 26 2161 319 0 26 2159 0 235 84 1495 G C targeted
chr19 40430530 G A synonymous_variant LOW SILENT gtC/gtT V471 5405 FCGBP 16 1070 139 0 17 1070 0 116 23 1495 A A targeted
chr19 40747850 C T missense_variant MODERATE MISSENSE Gcc/Acc A190T 481 AKT2 24 1372 180 0 24 1371 1 136 44 1495 G A targeted
chr19 42794550 G A missense_variant MODERATE MISSENSE Gcc/Acc A544T 1608 CIC 22 1585 233 0 23 1585 0 180 53 1495 A C targeted
chr19 42794725 G A missense_variant MODERATE MISSENSE aGa/aAa R602K 1608 CIC 23 1259 176 0 23 1259 0 135 41 1495 A A targeted
chr19 42797249 C T missense_variant MODERATE MISSENSE cCc/cTc P1204L 1608 CIC 28 622 85 0 28 622 0 61 24 1495 C C targeted
chr19 55870563 C T missense_variant MODERATE MISSENSE gGg/gAg G558E 922 FAM71E2 22 1258 203 0 23 1258 0 157 46 1495 C C targeted
chr19 55871145 G A missense_variant MODERATE MISSENSE cCc/cTc P364L 922 FAM71E2 24 374 53 0 25 374 0 40 13 1495 G G targeted
chr2 26539230 G A missense_variant MODERATE MISSENSE Cct/Tct P197S 1079 GPR113 30 1827 198 0 30 1827 0 138 60 1495 G A targeted
chr2 47705482 G A missense_variant MODERATE MISSENSE gGg/gAg G761E 934 MSH2 31 3115 423 0 31 3115 0 290 133 1495 G G targeted
chr2 48028145 C T missense_variant MODERATE MISSENSE aCc/aTc T1008I 1360 MSH6 35 2973 345 0 35 2972 0 224 121 1495 A C targeted
chr2 48028294 G A missense_variant+splice_region_variant MODERATE MISSENSE Gat/Aat D1058N 1360 MSH6 38 1340 162 0 39 1340 0 99 63 1495 G G targeted
chr2 165947750 G A missense_variant MODERATE MISSENSE gCa/gTa A1638V 2000 SCN3A 42 1326 147 0 42 1326 0 85 62 1495 T C targeted
chr20 23017008 C T synonymous_variant LOW SILENT tcC/tcT S296 388 SSTR4 28 2253 339 0 29 2253 0 242 97 1495 C C targeted
chr21 10914373 C T missense_variant MODERATE MISSENSE gGa/gAa G449E 551 TPTE 10 7043 767 0 11 7041 0 684 82 1495 T C targeted
chr22 21346101 C T missense_variant MODERATE MISSENSE Ccc/Tcc P326S 840 LZTR1 25 329 31 0 26 328 0 23 8 1495 G C targeted
chr22 30070924 G A synonymous_variant LOW SILENT acG/acA T480 595 NF2 31 1237 138 0 32 1237 0 94 44 1495 C T targeted
chr22 41543888 C T missense_variant MODERATE MISSENSE Ccc/Tcc P727S 2414 EP300 33 3792 479 0 34 3790 1 317 162 1495 A C targeted
chr3 10106445 G A missense_variant MODERATE MISSENSE gGa/gAa G685E 1471 FANCD2 25 2573 299 0 25 2573 0 224 75 1495 G A targeted
chr3 49395666 C T missense_variant MODERATE MISSENSE Gtg/Atg V16M 203 GPX1 36 781 79 0 37 781 0 50 29 1495 A C targeted
chr3 138474668 G A missense_variant MODERATE MISSENSE Ctc/Ttc L109F 1070 PIK3CB 30 2126 370 0 31 2125 0 256 114 1495 A A targeted
chr3 142215223 C T missense_variant MODERATE MISSENSE Gca/Aca A1960T 2644 ATR 27 1013 232 0 27 1013 0 169 63 1495 G C targeted
chr3 155200630 G A missense_variant MODERATE MISSENSE gCc/gTc A1070V 1693 PLCH1 33 2272 253 0 34 2272 0 168 85 1495 G C targeted
chr4 1808612 A T missense_variant MODERATE MISSENSE aAg/aTg K744M 808 FGFR3 34 760 69 0 35 759 0 45 24 1495 A G targeted
chr4 114276878 G A synonymous_variant LOW SILENT gaG/gaA E2368 3957 ANK2 31 1929 217 0 31 1929 0 149 68 1495 A G targeted
chr4 114278764 C T missense_variant MODERATE MISSENSE tCc/tTc S2997F 3957 ANK2 33 3614 428 0 34 3613 1 283 145 1495 T C targeted
chr4 151356778 G A missense_variant MODERATE MISSENSE gCt/gTt A2346V 2863 LRBA 38 2520 308 0 39 2519 0 189 119 1495 A C targeted
chr4 151835485 G A synonymous_variant LOW SILENT gaC/gaT D341 2863 LRBA 36 1218 167 0 37 1214 0 106 61 1495 T T targeted
chr4 187540998 G A missense_variant MODERATE MISSENSE Ccg/Tcg P2248S 4588 FAT1 42 2261 258 0 43 2261 0 148 110 1495 G G targeted
chr5 1416218 G A synonymous_variant LOW SILENT tgC/tgT C342 620 SLC6A3 58 1255 81 0 58 1255 0 34 47 1495 A C targeted
chr5 19544058 G A missense_variant MODERATE MISSENSE aCt/aTt T437I 790 CDH18 32 1939 265 0 32 1938 0 180 85 1495 A T targeted
chr5 149500540 G A missense_variant MODERATE MISSENSE Ctc/Ttc L833F 1106 PDGFRB 29 1492 157 0 30 1492 0 110 47 1495 A C targeted
chr5 150901333 C T synonymous_variant LOW SILENT ggG/ggA G3607 4349 FAT2 39 1376 149 0 40 1376 0 90 59 1495 T C targeted
chr5 180552221 G A synonymous_variant LOW SILENT ctC/ctT L28 315 OR2V1 45 130 22 0 45 130 0 12 10 1495 A A targeted
chr6 64419141 G A splice_region_variant+intron_variant LOW - - - 2039 PHF3 30 1927 287 0 31 1927 0 199 88 1495 A G targeted
chr6 64776334 C T missense_variant MODERATE MISSENSE Gga/Aga G2208R 3165 EYS 29 1713 271 0 30 1713 0 191 80 1495 C T targeted
chr6 64791889 C T missense_variant MODERATE MISSENSE gGt/gAt G2144D 3165 EYS 24 1902 249 0 24 1901 0 188 61 1495 A C targeted
chr6 75836178 G A missense_variant MODERATE MISSENSE Ctt/Ttt L2117F 3063 COL12A1 25 2391 308 0 25 2390 0 231 77 1495 A G targeted
chr6 75865490 G A missense_variant MODERATE MISSENSE Cct/Tct P1111S 3063 COL12A1 37 2459 273 0 37 2459 0 171 102 1495 G G targeted
chr6 157099929 G A missense_variant MODERATE MISSENSE gGg/gAg G289E 2249 ARID1B 36 1239 98 0 37 1238 0 62 36 1495 G G targeted
chr7 4150325 G A missense_variant MODERATE MISSENSE Gtc/Atc V1119I 2213 SDK1 15 1406 214 0 16 1406 0 180 34 1495 G T targeted
chr7 6026499 G A missense_variant MODERATE MISSENSE Cat/Tat H633Y 862 PMS2 31 2881 592 0 31 2880 1 407 185 1495 T T targeted
chr7 48266937 C T missense_variant MODERATE MISSENSE Ctt/Ttt L183F 5058 ABCA13 25 2137 465 0 26 2133 0 346 119 1495 A T targeted
chr7 48311562 A G missense_variant MODERATE MISSENSE Att/Gtt I767V 5058 ABCA13 25 2519 492 0 26 2519 0 366 126 1495 T T targeted
chr7 55221822 C T missense_variant MODERATE MISSENSE gCc/gTc A289V 1210 EGFR 97 2000 8672 0 98 2000 0 175 8497 1495 G C targeted
chr7 100655616 G A synonymous_variant LOW SILENT gaG/gaA E5097 5335 MUC12 21 2511 420 0 21 2511 0 330 90 1495 A G targeted
chr7 100655707 C T missense_variant MODERATE MISSENSE Ctt/Ttt L5128F 5335 MUC12 21 2317 397 0 22 2317 0 311 86 1495 T T targeted
chr7 106508086 G A missense_variant MODERATE MISSENSE aGt/aAt S27N 1102 PIK3CG 22 942 140 0 23 942 0 108 32 1495 A T targeted
chr7 106508472 G A missense_variant MODERATE MISSENSE Gcg/Acg A156T 1102 PIK3CG 19 837 128 0 20 837 0 103 25 1495 G C targeted
chr7 106509384 C T missense_variant MODERATE MISSENSE Ctt/Ttt L460F 1102 PIK3CG 23 2649 419 0 23 2648 0 320 98 1495 G T targeted
chr7 107580796 G A synonymous_variant LOW SILENT gaC/gaT D1133 1786 LAMB1 20 1318 211 0 20 1318 0 168 43 1495 A T targeted
chr7 116422036 C T splice_region_variant+intron_variant LOW - - - 1408 MET 41 2082 306 0 41 2082 0 180 126 1495 A T targeted
chr8 52773466 C T synonymous_variant LOW SILENT ttG/ttA L82 357 PCMTD1 42 2248 364 0 43 2247 1 208 156 1495 A A targeted
chr8 77619824 G A synonymous_variant LOW SILENT caG/caA Q878 3616 ZFHX4 27 1820 182 0 27 1819 0 132 50 1495 A C targeted
chr8 121326226 G A missense_variant MODERATE MISSENSE gGa/gAa G1504E 1796 COL14A1 36 1473 195 0 37 1472 0 123 72 1495 G A targeted
chr8 128751135 C T synonymous_variant LOW SILENT gcC/gcT A224 454 MYC 45 1385 136 0 46 1384 0 74 62 1495 C T targeted
chr8 144947288 C T missense_variant MODERATE MISSENSE gGg/gAg G45E 2420 EPPK1 10 638 84 0 11 638 0 75 9 1495 C C targeted
chr9 75773674 C T missense_variant MODERATE MISSENSE Cca/Tca P44S 346 ANXA1 33 1977 265 0 34 1976 1 175 90 1495 T C targeted
chr9 139401303 G A missense_variant MODERATE MISSENSE Ccg/Tcg P1256S 2555 NOTCH1 32 1523 129 0 33 1523 0 87 42 1495 G G targeted
chrX 18963265 C T missense_variant MODERATE MISSENSE atG/atA M183I 1235 PHKA2 34 1586 261 0 34 1584 0 171 90 1495 A A targeted
chrX 34149029 G A missense_variant MODERATE MISSENSE aCc/aTc T456I 791 FAM47A 31 352 44 0 32 352 0 30 14 1495 G T targeted
chrX 39932528 G A synonymous_variant LOW SILENT Ctg/Ttg L691 1755 BCOR 35 1281 200 0 35 1281 0 130 70 1495 A A targeted
chrX 153176386 G A synonymous_variant LOW SILENT gcC/gcT A597 986 ARHGAP4 27 206 43 0 28 206 0 31 12 1495 A G targeted
chrX 153578104 G A missense_variant MODERATE MISSENSE Ccc/Tcc P2489S 2647 FLNA 22 686 119 0 23 686 0 92 27 1495 G G targeted
chrX 153596205 C T splice_region_variant+intron_variant LOW - - - 2647 FLNA 19 588 92 0 20 588 0 74 18 1495 C T targeted
chr17 7578271 T C missense_variant MODERATE MISSENSE cAt/cGt H193R 393 TP53 64 1679 183 0 64 1678 0 65 118 1506 A G targeted
chr2 209113113 G A missense_variant MODERATE MISSENSE Cgt/Tgt R132C 414 IDH1 29 2535 346 0 29 2535 0 244 102 1506 C A targeted
chr11 1084283 G T synonymous_variant LOW SILENT ggG/ggT G805 2813 MUC2 47 1184 121 0 48 1183 1 63 58 1509 G C targeted
chr19 42798844 C T synonymous_variant LOW SILENT gcC/gcT A1472 1608 CIC 27 1653 149 0 28 1653 0 108 41 1509 C C targeted
chr7 100684038 C T missense_variant MODERATE MISSENSE aCc/aTc T3114I 4493 MUC17 19 4331 741 0 20 4328 0 595 145 1509 A C targeted
chr7 140453136 A T missense_variant MODERATE MISSENSE gTg/gAg V600E 766 BRAF 59 2454 438 0 60 2451 1 176 262 1509 C C targeted
chr1 51436108 G A missense_variant MODERATE MISSENSE aGt/aAt S23N 168 CDKN2C 27 1719 198 0 28 1719 0 143 55 1512 A T targeted
chr10 89653818 C A missense_variant MODERATE MISSENSE gCa/gAa A39E 403 PTEN 31 3070 229 0 31 3070 0 157 72 1512 G A targeted
chr19 9062525 G A synonymous_variant LOW SILENT acC/acT T8307 14507 MUC16 17 2211 355 0 18 2211 0 292 63 1512 T G targeted
chr19 9065864 T G missense_variant MODERATE MISSENSE gaA/gaC E7194D 14507 MUC16 19 2768 443 0 20 2767 1 356 87 1512 A T targeted
chr6 7229368 G A missense_variant MODERATE MISSENSE Gaa/Aaa E346K 1742 RREB1 27 994 148 0 28 994 0 107 41 1512 A A targeted
chr6 159636146 G A synonymous_variant LOW SILENT ctG/ctA L210 1894 FNDC1 22 2061 259 0 22 2061 0 201 58 1512 T A targeted
chr7 3991529 C T missense_variant MODERATE MISSENSE gCg/gTg A376V 2213 SDK1 20 922 137 0 20 922 0 109 28 1512 G G targeted
chrX 55041343 G A missense_variant MODERATE MISSENSE cCc/cTc P425L 587 ALAS2 16 775 136 0 16 775 0 114 22 1512 G G targeted
chr1 16895623 G A synonymous_variant LOW SILENT agC/agT S853 1140 NBPF1 10 5709 822 0 11 5709 0 732 90 1522 C C targeted
chr1 145296536 G A missense_variant, intron_variant, intron_variant, intragenic_variant MODERATE, MODIFIER, MODIFIER, MODIFIER MISSENSE, -, -, - aGa/aAa, -, -, - R153K, -, -, - 3626, 4963, 1110, - NBPF10, NBPF20, NBPF9, NBPF25P 17 1245 188 0 17 1245 0 156 32 1522 A A targeted
chr1 145323667 C G missense_variant, intron_variant, intron_variant, intragenic_variant MODERATE, MODIFIER, MODIFIER, MODIFIER MISSENSE, -, -, - gaC/gaG, -, -, - D1243E, -, -, - 3626, 4963, 1110, - NBPF10, NBPF20, NBPF9, NBPF25P 14 1602 298 0 14 1568 0 256 42 1522 A G targeted
chr1 169510691 G C missense_variant MODERATE MISSENSE Ctc/Gtc L1213V 2224 F5 14 3615 461 0 15 3613 1 393 68 1522 A A targeted
chr1 228503651 C T synonymous_variant LOW SILENT acC/acT T5329 8923 OBSCN 44 890 102 0 44 890 0 57 45 1522 C T targeted
chr11 1264682 C T missense_variant MODERATE MISSENSE cCg/cTg P2191L 5762 MUC5B 45 2291 75 0 45 2291 0 41 34 1522 C G targeted
chr11 1265670 C T synonymous_variant LOW SILENT acC/acT T2520 5762 MUC5B 31 1396 182 0 32 1395 1 124 58 1522 C G targeted
chr11 92623975 A G missense_variant MODERATE MISSENSE cAt/cGt H4457R 4557 FAT3 50 2736 343 0 50 2736 0 170 173 1522 C T targeted
chr11 108124625 C T synonymous_variant LOW SILENT gaC/gaT D661 3056 ATM 46 2490 324 0 47 2489 0 172 152 1522 A T targeted
chr15 22742606 C G missense_variant, missense_variant MODERATE, MODERATE MISSENSE, MISSENSE Cgg/Ggg, Cgg/Ggg R331G, R319G 668, 656 GOLGA6L1, GOLGA6L22 17 527 131 0 18 526 0 107 23 1522 A G targeted
chr17 11833257 A C synonymous_variant LOW SILENT ccA/ccC P3984 4486 DNAH9 47 1566 217 0 48 1566 0 113 104 1522 C G targeted
chr17 18542505 T C missense_variant MODERATE MISSENSE Agt/Ggt S61G 210 TBC1D28 23 198 43 0 23 198 0 33 10 1522 C G targeted
chr17 44408351 G C synonymous_variant, intragenic_variant, intragenic_variant LOW, MODIFIER, MODIFIER SILENT, -, - tcG/tcC, -, - S1236, -, - 1700, -, - LRRC37A, ARL17A, ARL17B 23 1044 158 0 23 1044 0 121 37 1522 C T targeted
chr19 9025647 C G missense_variant MODERATE MISSENSE ttG/ttC L12269F 14507 MUC16 25 5018 758 0 25 5016 0 565 193 1522 A A targeted
chr19 9071105 C T synonymous_variant LOW SILENT tcG/tcA S5447 14507 MUC16 10 2758 455 0 11 2758 0 406 48 1522 T G targeted
chr2 167055815 G A synonymous_variant, intragenic_variant LOW, MODIFIER SILENT, - gaC/gaT, - D1767, - 1977, - SCN9A, LOC101929680 50 2385 276 0 50 2385 0 138 138 1522 A T targeted
chr21 10951378 C T missense_variant MODERATE MISSENSE Gac/Aac D112N 551 TPTE 19 1583 241 0 20 1582 0 194 47 1522 T G targeted
chr5 80057448 G A missense_variant MODERATE MISSENSE cGt/cAt R616H 1137 MSH3 55 2600 294 0 55 2600 0 131 163 1522 C T targeted
chr7 55211080 G A missense_variant MODERATE MISSENSE aGa/aAa R108K 1210 EGFR 95 2451 7172 0 95 2451 0 351 6818 1522 A A targeted
chr7 100681251 C T missense_variant MODERATE MISSENSE cCt/cTt P2185L 4493 MUC17 49 4387 709 0 50 4383 0 355 354 1522 C T targeted
chr7 116403328 A G splice_region_variant+intron_variant LOW - - - 1408 MET 43 1963 291 0 44 1962 0 163 128 1522 G A targeted
chrX 34149632 C T missense_variant MODERATE MISSENSE cGt/cAt R255H 791 FAM47A 97 479 39 0 97 479 0 1 38 1522 A G targeted
chrX 39931908 C G synonymous_variant LOW SILENT tcG/tcC S897 1755 BCOR 100 1895 144 0 100 1895 0 0 144 1522 T G targeted
chrX 47422426 C T synonymous_variant LOW SILENT acC/acT T20 609 ARAF 100 449 37 0 100 449 0 0 37 1522 C G targeted
chrX 65242698 A G missense_variant MODERATE MISSENSE gTc/gCc V316A 399 VSIG4 100 2057 165 0 100 2056 0 0 165 1522 G C targeted
chr1 16903866 C T missense_variant MODERATE MISSENSE cGa/cAa R617Q 1140 NBPF1 14 4406 601 0 15 4406 0 511 90 1532 T G targeted
chr1 148590550 C T splice_region_variant+intron_variant, intragenic_variant LOW, MODIFIER -, - -, - -, - 670, - NBPF15, NBPF25P 38 285 42 0 38 285 0 26 16 1532 G A targeted
chr1 148594535 G A synonymous_variant, intragenic_variant LOW, MODIFIER SILENT, - gaG/gaA, - E636, - 670, - NBPF15, NBPF25P 50 1189 167 0 51 1189 0 82 85 1532 A G targeted
chr11 108124671 A G missense_variant MODERATE MISSENSE Agt/Ggt S677G 3056 ATM 46 2547 318 0 47 2547 0 170 148 1532 C G targeted
chr12 21967587 T C missense_variant MODERATE MISSENSE Ata/Gta I1365V 1549 ABCC9 51 2869 394 0 51 2869 0 193 201 1532 A A targeted
chr15 28228589 T G missense_variant MODERATE MISSENSE Att/Ctt I469L 838 OCA2 50 2271 344 0 51 2270 1 170 174 1532 A C targeted
chr17 7577121 G A missense_variant MODERATE MISSENSE Cgt/Tgt R273C 393 TP53 38 1647 291 0 38 1647 0 180 111 1532 C C targeted
chr17 39553547 G A missense_variant MODERATE MISSENSE gCg/gTg A82V 416 KRT31 52 100 19 0 53 100 0 9 10 1532 C C targeted
chr19 9058320 C G missense_variant MODERATE MISSENSE gGt/gCt G9709A 14507 MUC16 19 2713 436 0 19 2713 0 353 83 1532 A C targeted
chr19 40412055 G A synonymous_variant LOW SILENT tgC/tgT C1191 5405 FCGBP 24 1186 207 0 25 1186 0 156 51 1532 C C targeted
chr2 209113112 C T missense_variant MODERATE MISSENSE cGt/cAt R132H 414 IDH1 37 2534 346 0 38 2533 1 216 130 1532 A G targeted
chr21 10921939 C T missense_variant MODERATE MISSENSE Gca/Aca A362T 551 TPTE 17 5445 631 0 17 5443 1 521 110 1532 G A targeted
chr21 43852280 G T missense_variant MODERATE MISSENSE aaG/aaT K413N 661 UBASH3A 54 1509 211 0 55 1509 0 96 115 1532 A G targeted
chr5 11346517 G A missense_variant MODERATE MISSENSE tCc/tTc S532F 1225 CTNND2 57 1612 164 0 58 1612 0 69 95 1532 G A targeted
chr6 33650388 G A missense_variant MODERATE MISSENSE Gtg/Atg V1522M 2671 ITPR3 32 593 98 0 33 593 0 66 32 1532 C T targeted
chr6 33655035 G A synonymous_variant LOW SILENT gaG/gaA E2036 2671 ITPR3 64 689 122 0 65 689 0 43 79 1532 A G targeted
chr7 100642200 C A missense_variant MODERATE MISSENSE Cct/Act P2786T 5335 MUC12 10 5550 1482 0 11 5549 1 1324 158 1532 A C targeted
chr7 100644430 C T missense_variant MODERATE MISSENSE aCg/aTg T3529M 5335 MUC12 47 3020 1143 0 48 3019 1 600 543 1532 A G targeted
chr8 77617490 G A synonymous_variant LOW SILENT tcG/tcA S389 3616 ZFHX4 47 1770 280 0 48 1769 1 146 134 1532 C A targeted
chr8 121211761 C A missense_variant MODERATE MISSENSE cCa/cAa P278Q 1796 COL14A1 21 1859 287 0 22 1859 0 224 63 1532 C A targeted
chr8 121211762 A T synonymous_variant LOW SILENT ccA/ccT P278 1796 COL14A1 21 1857 283 0 22 1857 0 222 61 1532 C T targeted
chrX 76938208 A G missense_variant MODERATE MISSENSE tTt/tCt F847S 2492 ATRX 100 2316 213 0 100 2315 0 0 213 1532 A A targeted
chr1 16890599 A G missense_variant MODERATE MISSENSE Tac/Cac Y1088H 1140 NBPF1 14 6738 923 0 14 6735 1 792 131 1547 T C targeted
chr1 16890619 C T missense_variant MODERATE MISSENSE tGt/tAt C1081Y 1140 NBPF1 14 6373 892 0 14 6373 0 767 125 1547 A A targeted
chr1 148589008 C G missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - Caa/Gaa, - Q335E, - 670, - NBPF15, NBPF25P 21 3173 285 0 21 3173 0 224 61 1547 T A targeted
chr1 208202312 C T synonymous_variant LOW SILENT acG/acA T1767 1894 PLXNA2 36 196 25 0 36 196 0 16 9 1547 C G targeted
chr1 215932013 T A synonymous_variant LOW SILENT acA/acT T3771 5202 USH2A 48 3412 435 0 49 3411 0 224 211 1547 G G targeted
chr11 62297637 T C missense_variant MODERATE MISSENSE Atg/Gtg M1418V 5890 AHNAK 35 4374 819 0 35 4372 1 529 290 1547 A T targeted
chr17 7578190 T C missense_variant MODERATE MISSENSE tAt/tGt Y220C 393 TP53 86 1691 173 0 87 1691 0 23 150 1547 A A targeted
chr17 20769952 C T synonymous_variant LOW SILENT acG/acA T160 221 CCDC144NL 32 352 37 0 32 352 0 25 12 1547 A G targeted
chr17 37881407 G C missense_variant MODERATE MISSENSE Gct/Cct A867P 1255 ERBB2 46 1288 126 0 46 1288 0 68 58 1547 G C targeted
chr2 166850722 G A missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - Cgc/Tgc, - R1596C, - 2009, - SCN1A, LOC102724058 41 102 29 0 41 102 0 17 12 1547 C T targeted
chr2 209113112 C T missense_variant MODERATE MISSENSE cGt/cAt R132H 414 IDH1 38 2534 320 0 38 2533 1 198 122 1547 A G targeted
chr22 21349153 C T splice_region_variant+intron_variant LOW - - - 840 LZTR1 49 1555 202 0 49 1555 0 103 99 1547 G C targeted
chr3 10091170 T C missense_variant MODERATE MISSENSE aTg/aCg M509T 1471 FANCD2 34 3052 545 0 34 3052 0 357 187 1547 A G targeted
chr3 178936091 G A missense_variant MODERATE MISSENSE Gag/Aag E545K 1068 PIK3CA 44 1308 145 0 44 1308 0 81 64 1547 T A targeted
chr7 4011112 G A missense_variant MODERATE MISSENSE Gtc/Atc V577I 2213 SDK1 56 1542 196 0 56 1542 0 86 110 1547 C T targeted
chr8 144940540 G A synonymous_variant LOW SILENT ggC/ggT G2294 2420 EPPK1 13 6955 497 0 13 6954 1 430 67 1547 C C targeted
chr8 144940717 G C missense_variant MODERATE MISSENSE gaC/gaG D2235E 2420 EPPK1 11 2939 199 0 11 2938 0 177 22 1547 G T targeted
chrX 9862822 G A missense_variant MODERATE MISSENSE Gcc/Acc A292T 1616 SHROOM2 53 1027 124 0 53 1027 0 58 66 1547 T C targeted
chrX 117959244 C A synonymous_variant LOW SILENT Cgg/Agg R13 402 ZCCHC12 55 1515 194 0 56 1515 0 86 108 1547 G G targeted
chrX 135741496 G A synonymous_variant LOW SILENT tcG/tcA S236 261 CD40LG 41 1948 254 0 42 1947 1 148 106 1547 C G targeted
chrX 153691826 G A synonymous_variant LOW SILENT ccG/ccA P470 1871 PLXNA3 50 271 42 0 50 271 0 21 21 1547 C G targeted
chr1 120572606 C T synonymous_variant LOW SILENT ttG/ttA L26 2471 NOTCH2 14 806 113 0 14 806 0 97 16 1665 G A targeted
chr1 152323470 G A synonymous_variant, intragenic_variant LOW, MODIFIER SILENT, - caC/caT, - H2264, - 2391, - FLG2, FLG-AS1 12 4250 710 0 12 4248 1 623 87 1665 A T targeted
chr1 215808003 C T missense_variant MODERATE MISSENSE aGc/aAc S5032N 5202 USH2A 51 2772 423 0 51 2772 0 206 217 1665 G T targeted
chr11 1078582 G A missense_variant MODERATE MISSENSE Gtc/Atc V264I 2813 MUC2 21 292 47 0 21 292 0 37 10 1665 C T targeted
chr11 1265915 C G missense_variant MODERATE MISSENSE aCa/aGa T2602R 5762 MUC5B 43 3918 800 0 44 3918 0 452 348 1665 A A targeted
chr11 1272820 C T missense_variant MODERATE MISSENSE Cgc/Tgc R4904C 5762 MUC5B 50 2158 402 0 50 2156 1 201 201 1665 C G targeted
chr11 117308076 C T synonymous_variant LOW SILENT acG/acA T1554 2113 DSCAML1 22 1181 209 0 22 1181 0 163 46 1665 G G targeted
chr11 117321407 G A splice_region_variant+intron_variant LOW - - - 2113 DSCAML1 51 1058 194 0 52 1058 0 94 100 1665 T A targeted
chr12 18656242 T C missense_variant MODERATE MISSENSE gTg/gCg V1015A 1486 PIK3C2G 23 2441 301 0 23 2441 0 231 70 1665 G G targeted
chr15 22743596 C T stop_gained+splice_region_variant, stop_gained+splice_region_variant HIGH, HIGH NONSENSE, NONSENSE Cag/Tag, Cag/Tag Q661*, Q649* 668, 656 GOLGA6L1, GOLGA6L22 16 935 98 0 16 934 1 82 16 1665 C A targeted
chr15 28211955 G T missense_variant MODERATE MISSENSE gCc/gAc A506D 838 OCA2 44 1887 325 0 44 1885 0 181 144 1665 G C targeted
chr17 10304988 T C missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - Atc/Gtc, - I935V, - 1937, - MYH8, MYHAS 44 3983 570 0 44 3982 0 318 252 1665 A C targeted
chr17 11845651 G A missense_variant MODERATE MISSENSE cGg/cAg R4231Q 4486 DNAH9 50 2063 338 0 51 2062 1 167 171 1665 C G targeted
chr17 62890921 G A missense_variant MODERATE MISSENSE Cca/Tca P819S 1634 LRRC37A3 50 221 26 0 50 221 0 13 13 1665 G T targeted
chr2 167133514 G C synonymous_variant, intragenic_variant LOW, MODIFIER SILENT, - gtC/gtG, - V940, - 1977, - SCN9A, LOC101929680 51 1763 234 0 52 1763 0 113 121 1665 T A targeted
chr5 80160624 T C splice_region_variant+intron_variant LOW - - - 1137 MSH3 53 2094 292 0 54 2094 0 135 157 1665 T G targeted
chr5 149513558 G T missense_variant MODERATE MISSENSE aaC/aaA N215K 1106 PDGFRB 47 2201 387 0 47 2201 0 204 183 1665 C T targeted
chr5 150947923 C T synonymous_variant LOW SILENT agG/agA R190 4349 FAT2 53 1718 296 0 53 1718 0 139 157 1665 A C targeted
chr6 75901946 C G missense_variant MODERATE MISSENSE Gtt/Ctt V106L 3063 COL12A1 43 2267 265 0 44 2267 0 148 116 1665 A T targeted
chr7 55220274 C T missense_variant MODERATE MISSENSE Cgc/Tgc R222C 1210 EGFR 75 935 1496 0 75 935 0 368 1128 1665 G G targeted
chr7 80374596 T G missense_variant MODERATE MISSENSE Act/Cct T624P 751 SEMA3C 21 2198 260 0 21 2197 1 205 55 1665 G G targeted
chr7 80374597 G T synonymous_variant LOW SILENT gcC/gcA A623 751 SEMA3C 21 2195 260 0 22 2195 0 203 57 1665 T G targeted
chr7 100643547 G A missense_variant MODERATE MISSENSE Ggc/Agc G3235S 5335 MUC12 10 15066 4024 0 10 15065 1 3604 419 1665 C G targeted
chrX 3235976 G A missense_variant MODERATE MISSENSE Cgg/Tgg R1916W 2828 MXRA5 47 1723 177 0 47 1722 0 93 84 1665 C T targeted
chrX 39922235 G A missense_variant MODERATE MISSENSE Cca/Tca P1313S 1755 BCOR 98 866 86 0 99 866 0 1 85 1665 G T targeted
chr1 16909053 T G missense_variant MODERATE MISSENSE cAg/cCg Q431P 1140 NBPF1 12 723 81 0 12 723 0 71 10 1674 C G targeted
chr1 22154389 A G missense_variant MODERATE MISSENSE Tcc/Ccc S4187P 4392 HSPG2 48 725 121 0 49 725 0 62 59 1674 G C targeted
chr1 152080837 C T missense_variant MODERATE MISSENSE aGa/aAa R1619K 1943 TCHH 49 2763 425 0 50 2762 0 214 211 1674 T T targeted
chr11 1090972 G A synonymous_variant LOW SILENT ccG/ccA P1289 2813 MUC2 73 394 53 0 74 393 1 14 39 1674 C A targeted
chr15 23406929 T A missense_variant MODERATE MISSENSE cAg/cTg Q601L 660 GOLGA6L22 29 873 132 0 30 855 0 92 39 1674 C G targeted
chr17 76425362 C T missense_variant MODERATE MISSENSE cGc/cAc R4082H 4462 DNAH17 53 295 45 0 53 295 0 21 24 1674 G G targeted
chr19 3779134 G A synonymous_variant LOW SILENT cgC/cgT R352 508 MATK 47 648 116 0 47 648 0 61 55 1674 C C targeted
chr2 191905836 C T synonymous_variant LOW SILENT acG/acA T430 748 STAT4 26 1342 172 0 26 1342 0 127 45 1674 A G targeted
chr4 151829965 C T synonymous_variant LOW SILENT gaG/gaA E402 2863 LRBA 50 1841 215 0 51 1839 1 106 109 1674 G T targeted
chr4 187549798 C T synonymous_variant LOW SILENT gtG/gtA V1481 4588 FAT1 49 1624 204 0 49 1623 1 103 100 1674 C A targeted
chr5 101815990 T A missense_variant MODERATE MISSENSE aaA/aaT K169N 719 SLCO6A1 48 3158 405 0 49 3156 0 207 197 1674 T T targeted
chr6 51890803 C T missense_variant MODERATE MISSENSE Gtg/Atg V1269M 4074 PKHD1 46 1694 169 0 47 1694 0 90 79 1674 A G targeted
chrX 76938208 A G missense_variant MODERATE MISSENSE tTt/tCt F847S 2492 ATRX 100 2316 230 0 100 2315 0 0 230 1674 A A targeted
chrX 103358824 G A missense_variant, intron_variant MODERATE, MODIFIER MISSENSE, - Gtg/Atg, - V8M, - 403, 307 ZCCHC18, SLC25A53 98 575 59 0 98 575 0 1 58 1674 T T targeted
chr1 16905782 C G missense_variant MODERATE MISSENSE caG/caC Q569H 1140 NBPF1 22 846 96 0 23 846 0 74 22 1676 G T targeted
chr1 148006230 C T synonymous_variant LOW SILENT gtG/gtA V824 942 NBPF8 18 243 58 0 19 243 0 47 11 1676 C A targeted
chr10 123256090 T C missense_variant MODERATE MISSENSE Acc/Gcc T608A 822 FGFR2 50 2309 313 0 50 2308 1 156 157 1676 G G targeted
chr11 1268488 C T missense_variant MODERATE MISSENSE Ccc/Tcc P3460S 5762 MUC5B 23 3959 561 0 24 3957 1 429 132 1676 G C targeted
chr19 9083795 C T missense_variant MODERATE MISSENSE Gct/Act A2674T 14507 MUC16 48 2503 393 0 49 2503 0 202 191 1676 G T targeted
chr19 40399774 G A missense_variant MODERATE MISSENSE aCg/aTg T1974M 5405 FCGBP 99 398 104 0 99 398 0 1 103 1676 C T targeted
chr21 10921939 C T missense_variant MODERATE MISSENSE Gca/Aca A362T 551 TPTE 14 5445 827 0 15 5443 1 704 122 1676 G A targeted
chr21 10959790 G A stop_gained HIGH NONSENSE Cga/Tga R62* 551 TPTE 24 3406 527 0 24 3405 0 399 127 1676 C T targeted
chr6 7230426 C T synonymous_variant LOW SILENT ccC/ccT P698 1742 RREB1 53 1824 225 0 54 1824 0 104 121 1676 C T targeted
chr7 4050701 G A synonymous_variant LOW SILENT gcG/gcA A745 2213 SDK1 44 1661 246 0 44 1661 0 137 109 1676 C G targeted
chr7 100636231 C T missense_variant MODERATE MISSENSE aCg/aTg T796M 5335 MUC12 48 5622 534 0 49 5619 1 273 261 1676 A G targeted
chr7 100636551 C T missense_variant MODERATE MISSENSE Ccc/Tcc P903S 5335 MUC12 10 690 348 0 10 690 0 313 35 1676 C C targeted
chr7 100638121 C A missense_variant MODERATE MISSENSE gCc/gAc A1426D 5335 MUC12 64 588 28 0 64 588 0 10 18 1676 G C targeted
chr7 100646041 C A missense_variant MODERATE MISSENSE gCc/gAc A4066D 5335 MUC12 94 2232 258 0 94 2232 0 15 243 1676 G C targeted
chrX 2928125 C T synonymous_variant LOW SILENT ctC/ctT L49 562 ARSH 100 1855 125 0 100 1855 0 0 125 1676 T G targeted
chrX 2928170 C T synonymous_variant LOW SILENT acC/acT T64 562 ARSH 100 1609 103 0 100 1609 0 0 103 1676 C G targeted
chrX 2945477 C T missense_variant MODERATE MISSENSE aCg/aTg T387M 562 ARSH 100 1688 144 0 100 1688 0 0 144 1676 A G targeted
chrX 3240889 G A missense_variant MODERATE MISSENSE gCa/gTa A946V 2828 MXRA5 100 1677 144 0 100 1676 0 0 144 1676 T C targeted
chr1 108786368 C T missense_variant MODERATE MISSENSE Gac/Aac D6N 638 NBPF4 52 335 17 0 53 335 0 8 9 1707 T G targeted
chr1 216595578 C T missense_variant MODERATE MISSENSE cGa/cAa R34Q 5202 USH2A 17 2416 346 0 18 2415 1 285 61 1707 T G targeted
chr11 92533105 T C missense_variant MODERATE MISSENSE gTt/gCt V2309A 4557 FAT3 18 3439 530 0 19 3437 1 431 99 1707 G T targeted
chr13 48919318 C T synonymous_variant LOW SILENT ctC/ctT L161 928 RB1 52 2187 240 0 52 2187 0 114 126 1707 T T targeted
chr17 10309361 C A missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - aGg/aTg, - R810M, - 1937, - MYH8, MYHAS 17 2808 349 0 17 2807 1 289 60 1707 C T targeted
chr17 34803389 G A missense_variant, missense_variant MODERATE, MODERATE MISSENSE, MISSENSE Cgc/Tgc, Cgc/Tgc R144C, R144C 549, 549 TBC1D3F, TBC1D3B 11 392 139 0 12 392 0 123 16 1707 C C targeted
chr17 36339712 C T synonymous_variant, synonymous_variant, synonymous_variant, synonymous_variant, synonymous_variant, synonymous_variant, synonymous_variant, synonymous_variant, synonymous_variant, synonymous_variant LOW, LOW, LOW, LOW, LOW, LOW, LOW, LOW, LOW, LOW SILENT, SILENT, SILENT, SILENT, SILENT, SILENT, SILENT, SILENT, SILENT, SILENT acG/acA, acG/acA, acG/acA, acG/acA, acG/acA, acG/acA, acG/acA, acG/acA, acG/acA, acG/acA T315, T315, T315, T315, T315, T315, T315, T315, T315, T315 549, 549, 549, 549, 549, 549, 549, 549, 549, 549 TBC1D3, TBC1D3H, LOC102723859, LOC101060321, LOC102724862, LOC101060351, LOC101060389, LOC101060376, TBC1D3F, TBC1D3C 26 886 75 0 27 886 0 55 20 1707 A G targeted
chr19 9075098 G A synonymous_variant LOW SILENT gcC/gcT A4116 14507 MUC16 49 2081 302 0 49 2081 0 153 149 1707 A G targeted
chr19 11097111 A T missense_variant MODERATE MISSENSE cAg/cTg Q201L 1679 SMARCA4 41 876 90 0 41 876 0 53 37 1707 C G targeted
chr19 49519883 A G missense_variant MODERATE MISSENSE aTc/aCc I35T 141 LHB 24 885 105 0 25 885 0 79 26 1707 G T targeted
chr19 49535797 A G missense_variant MODERATE MISSENSE Aca/Gca T16A 163 CGB2 53 128 30 0 53 128 0 14 16 1707 G C targeted
chr19 49535810 A G missense_variant MODERATE MISSENSE aAg/aGg K20R 163 CGB2 51 131 31 0 52 131 0 15 16 1707 A G targeted
chr2 191895708 A G missense_variant MODERATE MISSENSE aTt/aCt I737T 748 STAT4 50 2792 442 0 50 2791 0 220 222 1707 A T targeted
chr2 218999998 G A synonymous_variant LOW SILENT aaG/aaA K158 360 CXCR2 70 2011 248 0 70 2011 0 74 174 1707 A C targeted
chr7 48338050 A G missense_variant MODERATE MISSENSE cAt/cGt H3096R 5058 ABCA13 53 2198 301 0 53 2197 0 141 160 1707 C T targeted
chr7 100640212 C T missense_variant MODERATE MISSENSE tCg/tTg S2123L 5335 MUC12 50 55 24 0 50 55 0 12 12 1707 T G targeted
chr9 16436200 T C synonymous_variant LOW SILENT ggA/ggG G664 1099 BNC2 21 3086 279 0 21 3083 0 220 59 1707 C C targeted
chr9 116346024 C T missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - Ccc/Tcc, - P778S, - 1198, - RGS3, RGS3 18 1818 203 0 19 1818 0 165 38 1707 A C targeted
chrX 34962261 T C missense_variant MODERATE MISSENSE cTg/cCg L438P 645 FAM47B 64 2104 318 0 64 2103 0 113 205 1707 C G targeted
chrX 37027525 G A missense_variant MODERATE MISSENSE Gag/Aag E348K 1035 FAM47C 13 973 139 0 14 972 0 120 19 1707 C A targeted
chrX 39911630 G A missense_variant MODERATE MISSENSE tCg/tTg S1667L 1755 BCOR 38 1872 250 0 38 1871 0 154 96 1707 C A targeted
chrX 99663065 C T synonymous_variant LOW SILENT gaG/gaA E177 1148 PCDH19 59 1142 137 0 59 1141 0 56 81 1707 T T targeted
chrX 153689644 C T missense_variant MODERATE MISSENSE gCg/gTg A267V 1871 PLXNA3 41 1242 177 0 41 1241 1 104 73 1707 G G targeted
chrX 153691826 G A synonymous_variant LOW SILENT ccG/ccA P470 1871 PLXNA3 51 271 37 0 51 271 0 18 19 1707 C G targeted
chr1 16895624 C T missense_variant MODERATE MISSENSE aGc/aAc S853N 1140 NBPF1 16 5668 774 0 16 5667 0 648 126 1711 G T targeted
chr1 16909053 T G missense_variant MODERATE MISSENSE cAg/cCg Q431P 1140 NBPF1 10 723 105 0 10 723 0 94 11 1711 C G targeted
chr1 145293420 C T synonymous_variant, intron_variant, intron_variant, intragenic_variant LOW, MODIFIER, MODIFIER, MODIFIER SILENT, -, -, - gcC/gcT, -, -, - A5, -, -, - 3626, 4963, 1110, - NBPF10, NBPF20, NBPF9, NBPF25P 11 7025 1112 0 12 7024 0 981 131 1711 C G targeted
chr1 148252077 A G missense_variant, missense_variant, intron_variant, intragenic_variant MODERATE, MODERATE, MODIFIER, MODIFIER MISSENSE, MISSENSE, -, - tTa/tCa, tTa/tCa, -, - L2753S, L1045S, -, - 2819, 1111, 942, - NBPF14, NBPF9, NBPF8, NBPF25P 14 1583 237 0 14 1582 1 203 34 1711 T A targeted
chr1 215901411 A T synonymous_variant LOW SILENT ccT/ccA P4009 5202 USH2A 26 2952 300 0 27 2950 1 220 80 1711 T G targeted
chr13 35758196 T A missense_variant MODERATE MISSENSE Tca/Aca S1639T 2946 NBEA 27 2854 400 0 28 2854 0 289 111 1711 C C targeted
chr14 104643916 C T synonymous_variant LOW SILENT aaC/aaT N1597 1882 KIF26A 47 484 61 0 48 483 1 32 29 1711 A G targeted
chr15 23406971 C T missense_variant MODERATE MISSENSE cGg/cAg R587Q 660 GOLGA6L22 15 1452 216 0 16 1450 1 182 34 1711 C G targeted
chr16 81941387 G A splice_region_variant+intron_variant LOW - - - 1265 PLCG2 52 1620 255 0 53 1620 0 120 135 1711 G A targeted
chr16 81972510 G A synonymous_variant LOW SILENT acG/acA T1101 1265 PLCG2 46 1281 207 0 47 1281 0 110 97 1711 C A targeted
chr17 34803389 G A missense_variant, missense_variant MODERATE, MODERATE MISSENSE, MISSENSE Cgc/Tgc, Cgc/Tgc R144C, R144C 549, 549 TBC1D3F, TBC1D3B 19 392 93 0 19 392 0 74 18 1711 C C targeted
chr19 43967427 G A missense_variant MODERATE MISSENSE gCa/gTa A132V 346 LYPD3 49 751 104 0 49 751 0 53 51 1711 T C targeted
chr2 209113112 C T missense_variant MODERATE MISSENSE cGt/cAt R132H 414 IDH1 44 2534 335 0 44 2533 1 186 148 1711 A G targeted
chr21 10969070 C A splice_region_variant+intron_variant LOW - - - 551 TPTE 15 2539 414 0 15 2539 0 350 64 1711 A T targeted
chr4 114278272 A G missense_variant MODERATE MISSENSE gAa/gGa E2833G 3957 ANK2 34 2595 281 0 34 2592 0 184 96 1711 G A targeted
chr6 7249021 C T synonymous_variant LOW SILENT gaC/gaT D1683 1742 RREB1 49 804 109 0 50 804 0 55 54 1711 A T targeted
chr6 31727873 T G synonymous_variant, intragenic_variant LOW, MODIFIER SILENT, - ccT/ccG, - P564, - 835, - MSH5, MSH5-SAPCD1 49 1832 280 0 49 1831 0 142 138 1711 C C targeted
chr7 100643795 C T synonymous_variant LOW SILENT tcC/tcT S3317 5335 MUC12 9 16516 4733 0 10 16512 1 4264 468 1711 C A targeted
chr8 144993374 G A missense_variant MODERATE MISSENSE Cgc/Tgc R3676C 4684 PLEC 25 562 56 0 25 561 1 42 14 1711 C C targeted
chr1 16890607 G A missense_variant MODERATE MISSENSE cCg/cTg P1085L 1140 NBPF1 9 6588 1292 0 10 6588 0 1167 125 1726 C G targeted
chr1 16893854 A C splice_region_variant+intron_variant LOW - - - 1140 NBPF1 15 4546 975 0 15 4545 0 827 148 1726 C G targeted
chr1 16909053 T G missense_variant MODERATE MISSENSE cAg/cCg Q431P 1140 NBPF1 11 723 106 0 11 723 0 94 12 1726 C G targeted
chr1 22151112 C T splice_region_variant+intron_variant LOW - - - 4392 HSPG2 42 459 66 0 42 459 0 38 28 1726 G G targeted
chr1 22170659 G A synonymous_variant LOW SILENT aaC/aaT N2867 4392 HSPG2 19 916 152 0 19 916 0 123 29 1726 G T targeted
chr1 22174241 G A stop_gained HIGH NONSENSE Cag/Tag Q2657* 4392 HSPG2 11 857 153 0 12 857 0 135 18 1726 T C targeted
chr1 145323667 C G missense_variant, intron_variant, intron_variant, intragenic_variant MODERATE, MODIFIER, MODIFIER, MODIFIER MISSENSE, -, -, - gaC/gaG, -, -, - D1243E, -, -, - 3626, 4963, 1110, - NBPF10, NBPF20, NBPF9, NBPF25P 11 1602 286 0 11 1568 0 252 32 1726 A G targeted
chr1 204416643 G A missense_variant MODERATE MISSENSE Ccc/Tcc P804S 1634 PIK3C2B 9 1016 111 0 10 1015 1 100 11 1726 G G targeted
chr1 228482526 G C missense_variant MODERATE MISSENSE aGa/aCa R4243T 8923 OBSCN 12 3433 557 0 13 3433 0 484 72 1726 A A targeted
chr1 228482539 G A synonymous_variant LOW SILENT acG/acA T4247 8923 OBSCN 18 3499 599 0 18 3499 0 489 110 1726 C G targeted
chr1 228482542 C T synonymous_variant LOW SILENT gcC/gcT A4248 8923 OBSCN 19 3571 621 0 19 3571 0 501 120 1726 C G targeted
chr1 228482551 A G synonymous_variant LOW SILENT caA/caG Q4251 8923 OBSCN 22 3613 667 0 23 3612 1 514 153 1726 A T targeted
chr1 228491518 T C synonymous_variant LOW SILENT taT/taC Y4627 8923 OBSCN 18 3229 556 0 18 3227 0 454 102 1726 A A targeted
chr1 228491533 C T synonymous_variant LOW SILENT gaC/gaT D4632 8923 OBSCN 11 3205 523 0 11 3205 0 465 58 1726 A G targeted
chr1 228560774 G A missense_variant MODERATE MISSENSE aGg/aAg R8389K 8923 OBSCN 11 1222 178 0 12 1221 0 157 21 1726 A G targeted
chr10 123274705 T C missense_variant MODERATE MISSENSE Aag/Gag K406E 822 FGFR2 93 1948 180 0 94 1948 0 11 169 1726 T G targeted
chr11 1082664 C T missense_variant MODERATE MISSENSE gCc/gTc A638V 2813 MUC2 11 864 156 0 12 864 0 138 18 1726 G C targeted
chr11 1272005 C T missense_variant MODERATE MISSENSE aCc/aTc T4632I 5762 MUC5B 49 3728 600 0 50 3728 0 301 299 1726 A C targeted
chr11 1282672 G A missense_variant MODERATE MISSENSE aGg/aAg R5708K 5762 MUC5B 9 886 142 0 10 886 0 128 14 1726 A G targeted
chr11 62288880 C T missense_variant MODERATE MISSENSE Gat/Aat D4337N 5890 AHNAK 10 3986 702 0 10 3984 0 629 73 1726 T C targeted
chr11 65623656 G A missense_variant MODERATE MISSENSE Cgt/Tgt R21C 166 CFL1 19 2837 458 0 19 2837 0 369 89 1726 C C targeted
chr11 108214080 G A synonymous_variant LOW SILENT caG/caA Q2800 3056 ATM 10 2187 316 0 10 2185 0 283 33 1726 A T targeted
chr11 117351153 C T splice_region_variant+intron_variant LOW - - - 2113 DSCAML1 9 608 115 0 10 608 0 104 11 1726 G C targeted
chr14 32560134 G A missense_variant MODERATE MISSENSE Gaa/Aaa E87K 1502 ARHGAP5 10 3256 351 0 11 3256 0 313 37 1726 A A targeted
chr14 32561185 C T missense_variant MODERATE MISSENSE aCt/aTt T437I 1502 ARHGAP5 10 2923 311 0 10 2923 0 279 32 1726 A T targeted
chr15 22742712 G A missense_variant, missense_variant MODERATE, MODERATE MISSENSE, MISSENSE cGg/cAg, cGg/cAg R366Q, R354Q 668, 656 GOLGA6L1, GOLGA6L22 29 1159 109 0 29 1158 0 77 32 1726 C G targeted
chr15 22743292 G A synonymous_variant, synonymous_variant LOW, LOW SILENT, SILENT aaG/aaA, aaG/aaA K559, K547 668, 656 GOLGA6L1, GOLGA6L22 11 900 71 0 11 900 0 63 8 1726 A A targeted
chr15 28326841 A G synonymous_variant LOW SILENT tcT/tcC S60 838 OCA2 43 1628 211 0 43 1628 0 120 91 1726 A G targeted
chr17 10440993 G A missense_variant, intragenic_variant MODERATE, MODIFIER MISSENSE, - Ctc/Ttc, - L526F, - 1941, - MYH2, MYHAS 11 2962 403 0 11 2961 0 358 45 1726 A C targeted
chr17 11573029 C T missense_variant MODERATE MISSENSE Ccc/Tcc P1091S 4486 DNAH9 10 3351 497 0 10 3350 1 446 51 1726 A C targeted
chr17 11726313 G A missense_variant MODERATE MISSENSE Gag/Aag E3070K 4486 DNAH9 18 1925 328 0 19 1925 0 267 61 1726 G A targeted
chr19 9069492 C T missense_variant MODERATE MISSENSE aGt/aAt S5985N 14507 MUC16 19 2474 394 0 20 2474 0 317 77 1726 A T targeted
chr19 9086127 C T missense_variant MODERATE MISSENSE atG/atA M1896I 14507 MUC16 18 2012 332 0 19 2009 0 270 62 1726 T A targeted
chr19 40396193 C T missense_variant MODERATE MISSENSE Ggc/Agc G2402S 5405 FCGBP 11 909 112 0 12 908 0 99 13 1726 C C targeted
chr19 56544123 C T missense_variant MODERATE MISSENSE cCc/cTc P808L 1200 NLRP5 11 1293 171 0 12 1293 0 151 20 1726 C C targeted
chr2 25469482 C T splice_region_variant+intron_variant LOW - - - 912 DNMT3A 43 371 66 0 44 371 0 37 29 1726 T A targeted
chr2 26532938 G A synonymous_variant LOW SILENT gcC/gcT A1038 1079 GPR113 9 2353 357 0 10 2353 0 322 35 1726 G G targeted
chr2 84745100 C T synonymous_variant LOW SILENT atC/atT I50 4158 DNAH6 20 3279 450 0 20 3278 0 358 92 1726 T C targeted
chr2 84822868 T C synonymous_variant LOW SILENT agT/agC S941 4158 DNAH6 53 2660 381 0 53 2659 0 178 203 1726 G G targeted
chr2 84846871 C T missense_variant MODERATE MISSENSE gCc/gTc A1212V 4158 DNAH6 9 2953 427 0 10 2952 1 385 42 1726 G C targeted
chr2 190708778 C A missense_variant MODERATE MISSENSE tCc/tAc S224Y 932 PMS1 47 2451 322 0 47 2451 0 170 152 1726 T C targeted
chr2 209113112 C T missense_variant MODERATE MISSENSE cGt/cAt R132H 414 IDH1 46 2534 365 0 46 2533 1 197 168 1726 A G targeted
chr2 227662753 C T synonymous_variant LOW SILENT ggG/ggA G234 1242 IRS1 54 122 24 0 54 122 0 11 13 1726 C C targeted
chr21 10906910 C T missense_variant MODERATE MISSENSE Gat/Aat D551N 551 TPTE 13 3432 405 0 13 3430 0 351 54 1726 T G targeted
chr22 21340148 C T synonymous_variant LOW SILENT gaC/gaT D94 840 LZTR1 9 2055 250 0 10 2055 0 226 24 1726 A C targeted
chr22 50616021 G A missense_variant MODERATE MISSENSE Gac/Aac D294N 677 PANX2 13 1442 200 0 14 1442 0 173 27 1726 G A targeted
chr3 47162866 G A missense_variant MODERATE MISSENSE tCt/tTt S1087F 2564 SETD2 10 3427 485 0 11 3427 0 434 51 1726 A A targeted
chr3 52588823 C T missense_variant MODERATE MISSENSE aGc/aAc S1402N 1582 PBRM1 19 1223 196 0 19 1223 0 158 38 1726 G T targeted
chr3 52613122 C T missense_variant MODERATE MISSENSE Ggc/Agc G1136S 1582 PBRM1 20 3176 579 0 21 3174 0 460 119 1726 C A targeted
chr3 114069838 C T missense_variant MODERATE MISSENSE Gcc/Acc A363T 741 ZBTB20 10 1129 141 0 11 1129 0 126 15 1726 G C targeted
chr4 114279979 A C missense_variant MODERATE MISSENSE aAa/aCa K3402T 3957 ANK2 48 2427 374 0 49 2427 0 192 182 1726 A A targeted
chr5 1416275 G A synonymous_variant LOW SILENT ggC/ggT G323 620 SLC6A3 40 1132 192 0 40 1132 0 115 77 1726 C C targeted
chr5 150925084 G A synonymous_variant LOW SILENT tcC/tcT S1868 4349 FAT2 16 2798 400 0 16 2796 1 336 64 1726 G G targeted
chr5 150945493 C T stop_gained HIGH NONSENSE tgG/tgA W1000* 4349 FAT2 9 1190 193 0 10 1189 1 174 19 1726 C C targeted
chr5 150945630 C T missense_variant MODERATE MISSENSE Ggc/Agc G955S 4349 FAT2 10 1335 195 0 10 1335 0 175 20 1726 C C targeted
chr6 159653419 C T synonymous_variant LOW SILENT tcC/tcT S625 1894 FNDC1 14 1365 116 0 15 1364 0 99 17 1726 C A targeted
chr7 48269548 C A synonymous_variant LOW SILENT gtC/gtA V253 5058 ABCA13 38 2985 576 0 38 2985 0 356 220 1726 T A targeted
chr7 100635654 G A missense_variant MODERATE MISSENSE Gca/Aca A604T 5335 MUC12 27 5208 1566 0 27 5207 0 1137 428 1726 A C targeted
chr7 100642200 C A missense_variant MODERATE MISSENSE Cct/Act P2786T 5335 MUC12 11 5550 1737 0 11 5549 1 1539 198 1726 A C targeted
chr7 100644430 C T missense_variant MODERATE MISSENSE aCg/aTg T3529M 5335 MUC12 47 3020 1395 0 47 3019 1 739 656 1726 A G targeted
chr8 38271327 G A splice_region_variant+intron_variant LOW - - - 853 FGFR1 23 626 93 0 24 626 0 71 22 1726 T A targeted
chr8 77768387 C T missense_variant MODERATE MISSENSE aCg/aTg T3077M 3616 ZFHX4 10 2307 279 0 10 2307 0 251 28 1726 A G targeted
chr8 144941909 G A missense_variant MODERATE MISSENSE aCa/aTa T1838I 2420 EPPK1 24 2243 265 0 24 2241 0 201 64 1726 T T targeted
chr9 16437075 G A missense_variant MODERATE MISSENSE Ccc/Tcc P373S 1099 BNC2 12 2725 212 0 12 2725 0 185 26 1726 G A targeted
chr9 139408985 C T synonymous_variant LOW SILENT ggG/ggA G728 2555 NOTCH1 9 1000 168 0 10 1000 0 152 16 1726 C C targeted
chrX 18923933 T C missense_variant MODERATE MISSENSE Atg/Gtg M951V 1235 PHKA2 100 1900 202 0 100 1900 0 0 202 1726 A A targeted
chrX 65252498 C T missense_variant MODERATE MISSENSE gGt/gAt G169D 399 VSIG4 18 1923 173 0 18 1922 0 141 32 1726 A C targeted
chrX 153698518 C T splice_region_variant+intron_variant LOW - - - 1871 PLXNA3 34 404 49 0 35 404 0 32 17 1726 G C targeted
chr1 6528040 G A synonymous_variant LOW SILENT tcC/tcT S1031 1085 PLEKHG5 33 345 30 0 33 345 0 20 10 1730 G G targeted
chr1 9784139 G A missense_variant MODERATE MISSENSE Gag/Aag E903K 1044 PIK3CD 47 1681 160 0 48 1681 0 84 76 1730 A A targeted
chr1 11300480 C T missense_variant MODERATE MISSENSE Ggc/Agc G556S 2549 MTOR 47 2042 269 0 48 2042 0 141 128 1730 C T targeted
chr1 16912074 C T missense_variant MODERATE MISSENSE Gca/Aca A300T 1140 NBPF1 15 1812 137 0 15 1812 0 116 21 1730 G C targeted
chr1 16918432 C T missense_variant MODERATE MISSENSE Gca/Aca A29T 1140 NBPF1 11 9036 936 0 11 9036 0 830 106 1730 G C targeted
chr1 22156575 C T missense_variant MODERATE MISSENSE gGg/gAg G3895E 4392 HSPG2 46 742 79 0 47 742 0 42 37 1730 C C targeted
chr1 51204544 C T missense_variant MODERATE MISSENSE aGt/aAt S181N 650 FAF1 37 2332 272 0 38 2332 0 170 102 1730 A T targeted
chr1 78426159 G A missense_variant MODERATE MISSENSE Cca/Tca P456S 644 FUBP1 41 412 36 0 42 412 0 21 15 1730 G C targeted
chr1 120458779 G A missense_variant MODERATE MISSENSE cCt/cTt P2189L 2471 NOTCH2 39 1567 167 0 40 1567 0 101 66 1730 A G targeted
chr1 120469233 G A splice_region_variant+synonymous_variant LOW SILENT ggC/ggT G1298 2471 NOTCH2 46 1695 186 0 46 1695 0 100 86 1730 G C targeted
chr1 144823142 C G missense_variant, missense_variant, intron_variant MODERATE, MODERATE, MODIFIER MISSENSE, MISSENSE, - Caa/Gaa, Caa/Gaa, - Q605E, Q605E, - 941, 1110, 4963 NBPF8, NBPF9, NBPF20 16 740 60 0 17 739 1 50 10 1730 T A targeted
chr1 144825409 G A missense_variant, missense_variant, intron_variant MODERATE, MODERATE, MODIFIER MISSENSE, MISSENSE, - gGt/gAt, gGt/gAt, - G711D, G711D, - 941, 1110, 4963 NBPF8, NBPF9, NBPF20 38 297 21 0 38 297 0 13 8 1730 G T targeted
chr1 145293420 C T synonymous_variant, intron_variant, intron_variant, intragenic_variant LOW, MODIFIER, MODIFIER, MODIFIER SILENT, -, -, - gcC/gcT, -, -, - A5, -, -, - 3626, 4963, 1110, - NBPF10, NBPF20, NBPF9, NBPF25P 11 7025 918 0 11 7024 0 812 105 1730 C G targeted