Spreadsheet: 2627994a-f0e0-4ac9-bf4d-0dcf55499e34
Sheet: Sheet1

Assay Name | Assay ID | [NAME] | [NAME] | Transcript Accession | COSMIC Id | Nucleotide Mutation | Amino Acid Change | Mutation Type | hg19 Coordinates | Calibration dCt to Gene Reference Assay | Calibration dCt to Wild Type Allele Assay | Detection dCt [NAME] | Sensitivity (% mutation) | Off Target (on 30 ng wild type gDNA) | Assay Name (gene reference) | Assay ID (gene reference) | Assay Name (wild type allele) | Assay ID (wild type allele) | Additional Targets
ABL1_12560_mu | Hs00001464_mu | [NAME] | 25 | X16416 | 12560 | c.944C>T | p.T315I | SUBSTITUTION | 9:133748283-133748283 |  |  |  | 0.001 | 38.9 | ABL1_rf | Hs00001362_rf
ABL1_12573_mu | Hs00001192_mu | [NAME] | 25 | X16416 | 12573 | c.763G>A | p.E255K | SUBSTITUTION | 9:133738363-133738363 |  |  |  | 0.001 | 37.5 | ABL1_rf | Hs00001362_rf
ABL1_12574_mu | Hs00001193_mu | [NAME] | 25 | X16416 | 12574 | c.764A>T | p.E255V | SUBSTITUTION | 9:133738364-133738364 |  |  |  | 0.001 | 38.5 | ABL1_rf | Hs00001362_rf
ABL1_12575_mu | Hs00001194_mu | [NAME] | 25 | X16416 | 12575 | c.951C>G | p.F317L | SUBSTITUTION | 9:133748290-133748290 |  |  |  | 0.0025 | 40 | ABL1_rf | Hs00001362_rf
ABL1_12576_mu | Hs00001465_mu | [NAME] | 25 | X16416 | 12576 | c.757T>C | p.Y253H | SUBSTITUTION | 9:133738357-133738357 |  |  |  | 0.001 | 36.6 | ABL1_rf | Hs00001362_rf
ABL1_12577_mu | Hs00001195_mu | [NAME] | 25 | X16416 | 12577 | c.749G>A | p.G250E | SUBSTITUTION | 9:133738349-133738349 |  |  |  | 0.001 | 38.8 | ABL1_rf | Hs00001362_rf
ABL1_12578_mu | Hs00001196_mu | [NAME] | 25 | X16416 | 12578 | c.1052T>C | p.M351T | SUBSTITUTION | 9:133748391-133748391 |  |  |  | 0.001 | 39.2 | ABL1_rf | Hs00001362_rf
ABL1_12602_mu | Hs00001467_mu | [NAME] | 25 | X16416 | 12602 | c.827A>G | p.D276G | SUBSTITUTION | 9:133747520-133747520 |  |  |  | 0.001 | 38.1 | ABL1_rf | Hs00001362_rf
ABL1_12604_mu | Hs00001468_mu | [NAME] | 25 | X16416 | 12604 | c.1187A>G | p.H396R | SUBSTITUTION | 9:133750356-133750356 |  |  |  | 0.001 | 38.9 | ABL1_rf | Hs00001362_rf
ABL1_12605_mu | Hs00001197_mu | [NAME] | 25 | X16416 | 12605 | c.1075T>G | p.F359V | SUBSTITUTION | 9:133748414-133748414 |  |  |  | 0.001 | 38.9 | ABL1_rf | Hs00001362_rf
ABL1_12608_mu | Hs00001469_mu | [NAME] | 25 | X16416 | 12608 | c.730A>G | p.M244V | SUBSTITUTION | 9:133738330-133738330 |  |  |  | 0.001 | 37.5 | ABL1_rf | Hs00001362_rf
ABL1_12609_mu | Hs00001198_mu | [NAME] | 25 | X16416 | 12609 | c.756G>C | p.Q252H | SUBSTITUTION | 9:133738356-133738356 |  |  |  | 0.001 | 40 | ABL1_rf | Hs00001362_rf
ABL1_12610_mu | Hs00001199_mu | [NAME] | 25 | X16416 | 12610 | c.758A>T | p.Y253F | SUBSTITUTION | 9:133738358-133738358 |  |  |  | 0.001 | 40 | ABL1_rf | Hs00001362_rf
ABL1_12611_mu | Hs00001200_mu | [NAME] | 25 | X16416 | 12611 | c.1064A>G | p.E355G | SUBSTITUTION | 9:133748403-133748403 |  |  |  | 0.001 | 36.1 | ABL1_rf | Hs00001362_rf
ABL1_12631_mu | Hs00001201_mu | [NAME] | 25 | X16416 | 12631 | c.742C>G | p.L248V | SUBSTITUTION | 9:133738342-133738342 |  |  |  | 0.001 | 40 | ABL1_rf | Hs00001362_rf
ABL1_12632_mu | Hs00001470_mu | [NAME] | 25 | X16416 | 12632 | c.756G>T | p.Q252H | SUBSTITUTION | 9:133738356-133738356 |  |  |  | 0.001 | 39.9 | ABL1_rf | Hs00001362_rf
ABL1_49074_mu | Hs00001516_mu | [NAME] | 25 | X16416 | 49074 | c.949T>C | p.F317L | SUBSTITUTION | 9:133748288-133748288 |  |  |  | 0.01 | 37.1 | ABL1_rf | Hs00001362_rf
AKT1_33765_mu | Hs00000986_mu | AKT1 | 207 | ENST00000349310 | 33765 | c.49G>A | p.E17K | SUBSTITUTION | 14:105246551-105246551 |  |  |  | 0.0025 | 39.3 | AKT1_rf | Hs00001010_rf
AKT1_36918_mu | Hs00000987_mu | AKT1 | 207 | ENST00000349310 | 36918 | c.145G>A | p.E49K | SUBSTITUTION | 14:105246455-105246455 |  |  |  | 0.001 | 39.2 | AKT1_rf | Hs00001010_rf
ALK_28055_mu | Hs00000979_mu | ALK | 238 | NM_004304 | 28055 | c.3522C>A | p.F1174L | SUBSTITUTION | 2:29443695-29443695 |  |  |  | 0.001 | 39.2 | ALK_rf | Hs00001011_rf
ALK_28056_mu | Hs00000980_mu | ALK | 238 | NM_004304 | 28056 | c.3824G>A | p.R1275Q | SUBSTITUTION | 2:29432664-29432664 |  |  |  | 0.01 | 37.9 | ALK_rf | Hs00001011_rf
APC_13113_mu | Hs00000942_mu | APC | 324 | NM_000038 | 13113 | c.3927_3931delAAAGA | p.E1309fs*4 | DELETION | 5:112175218-112175222 |  |  |  | 0.001 | 39.4 | APC_rf | Hs00001012_rf |  |  | 19263(c.3922_3926delAAAGA, p.E1309fs*4);18764(c.3921_3925delAAAAG, p.E1309fs*4);18701(c.3926_3930delAAAAG, p.E1309fs*4);19145(c.3925_3929delGAAAA, p.E1309fs*4);
APC_13121_mu | Hs00000943_mu | APC | 324 | NM_000038 | 13121 | c.4099C>T | p.Q1367* | SUBSTITUTION | 5:112175390-112175390 |  |  |  | 0.001 | 40 | APC_rf | Hs00001012_rf
APC_13125_mu | Hs00000944_mu | APC | 324 | NM_000038 | 13125 | c.3340C>T | p.R1114* | SUBSTITUTION | 5:112174631-112174631 |  |  |  | 0.001 | 40 | APC_rf | Hs00001012_rf
APC_13127_mu | Hs00000945_mu | APC | 324 | NM_000038 | 13127 | c.4348C>T | p.R1450* | SUBSTITUTION | 5:112175639-112175639 |  |  |  | 0.001 | 38.9 | APC_rf | Hs00001012_rf
APC_13129_mu | Hs00001007_mu | APC | 324 | NM_000038 | 13129 | c.4012C>T | p.Q1338* | SUBSTITUTION | 5:112175303-112175303 |  |  |  | 0.001 | 37.5 | APC_rf | Hs00001012_rf
APC_13728_mu | Hs00000946_mu | APC | 324 | NM_000038 | 13728 | c.3907C>T | p.Q1303* | SUBSTITUTION | 5:112175198-112175198 |  |  |  | 0.01 | 38 | APC_rf | Hs00001012_rf
APC_18561_mu | Hs00000958_mu | APC | 324 | NM_000038 | 18561 | c.4666_4667insA | p.T1556fs*3 | INSERTION | 5:112175957-112175958 |  |  |  | 0.01 | 31.8 | APC_rf | Hs00001012_rf |  |  | 19695(c.4660_4661insA, p.T1556fs*3);
APC_18702_mu | Hs00000959_mu | APC | 324 | NM_000038 | 18702 | c.3964G>T | p.E1322* | SUBSTITUTION | 5:112175255-112175255 |  |  |  | 0.001 | 40 | APC_rf | Hs00001012_rf
APC_18704_mu | Hs00001120_mu | APC | 324 | NM_000038 | 18704 | c.4312delA | p.T1438fs*35 | DELETION | 5:112175603-112175603 |  |  |  | 0.001 | 39.8 | APC_rf | Hs00001012_rf
APC_18719_mu | Hs00000960_mu | APC | 324 | NM_000038 | 18719 | c.3923_3924insA | p.E1309fs*6 | INSERTION | 5:112175214-112175215 |  |  |  | 0.0025 | 40 | APC_rf | Hs00001012_rf
APC_18758_mu | Hs00001121_mu | APC | 324 | NM_000038 | 18758 | c.4108A>T | p.K1370* | SUBSTITUTION | 5:112175399-112175399 |  |  |  | 0.001 | 40 | APC_rf | Hs00001012_rf
APC_18760_mu | Hs00000961_mu | APC | 324 | NM_000038 | 18760 | c.3916G>T | p.E1306* | SUBSTITUTION | 5:112175207-112175207 |  |  |  | 0.0025 | 40 | APC_rf | Hs00001012_rf
APC_18775_mu | Hs00000963_mu | APC | 324 | NM_000038 | 18775 | c.3925G>T | p.E1309* | SUBSTITUTION | 5:112175216-112175216 |  |  |  | 0.0025 | 40 | APC_rf | Hs00001012_rf |  |  | 19263(c.3922_3926delAAAGA, p.E1309fs*4);18764(c.3921_3925delAAAAG, p.E1309fs*4);13113(c.3927_3931delAAAGA, p.E1309fs*4);18701(c.3926_3930delAAAAG, p.E1309fs*4);19145(c.3925_3929delGAAAA, p.E1309fs*4);
APC_18783_mu | Hs00001443_mu | APC | 324 | NM_000038 | 18783 | c.4316delC | p.P1439fs*34 | DELETION | 5:112175607-112175607 |  |  |  | 0.001 | 40 | APC_rf | Hs00001012_rf
[NAME] | Hs00001122_mu | APC | 324 | NM_000038 | 18803 | c.3972delA | p.A1325fs*90 | DELETION | 5:112175263-112175263 |  |  |  | 0.001 | 40 | APC_rf | Hs00001012_rf
APC_18834_mu | Hs00000964_mu | APC | 324 | NM_000038 | 18834 | c.4135G>T | p.E1379* | SUBSTITUTION | 5:112175426-112175426 |  |  |  | 0.001 | 40 | APC_rf | Hs00001012_rf
APC_18836_mu | Hs00000965_mu | APC | 324 | NM_000038 | 18836 | c.4285C>T | p.Q1429* | SUBSTITUTION | 5:112175576-112175576 |  |  |  | 0.0025 | 39.5 | APC_rf | Hs00001012_rf
[NAME] | Hs00000966_mu | APC | 324 | NM_000038 | 18838 | [NAME] | p.E1464fs*8 | DELETION | 5:112175682-112175685 |  |  |  | 0.001 | 40 | APC_rf | Hs00001012_rf
APC_18852_mu | Hs00001008_mu | APC | 324 | NM_000038 | 18852 | c.2626C>T | p.R876* | SUBSTITUTION | 5:112173917-112173917 |  |  |  | 0.0025 | 37 | APC_rf | Hs00001012_rf
APC_18861_mu | Hs00001444_mu | APC | 324 | NM_000038 | 18861 | c.4128T>A | p.Y1376* | SUBSTITUTION | 5:112175419-112175419 |  |  |  | 0.001 | 40 | APC_rf | Hs00001012_rf
APC_18862_mu | Hs00000967_mu | APC | 324 | NM_000038 | 18862 | c.4132C>T | p.Q1378* | SUBSTITUTION | 5:112175423-112175423 |  |  |  | 0.001 | 38.3 | APC_rf | Hs00001012_rf
APC_18865_mu | [NAME] | APC | 324 | NM_000038 | 18865 | c.4189G>T | p.E1397* | SUBSTITUTION | 5:112175480-112175480 |  |  |  | 0.001 | 40 | APC_rf | Hs00001012_rf
APC_18873_mu | Hs00000968_mu | APC | 324 | NM_000038 | 18873 | c.4385_4386delAG | p.S1465fs*3 | DELETION | 5:112175676-112175677 |  |  |  | 0.001 | 38.1 | APC_rf | Hs00001012_rf |  |  | 19332(c.4391_4392delAG, p.S1465fs*3);18931(c.4392_4393delGA, p.S1465fs*3);19688(c.4386_4387delGA, p.S1465fs*3);13864(c.4393_4394delAG, p.S1465fs*3);
APC_18960_mu | Hs00001123_mu | APC | 324 | NM_000038 | 18960 | c.3880C>T | p.Q1294* | SUBSTITUTION | 5:112175171-112175171 |  |  |  | 0.001 | 38.9 | APC_rf | Hs00001012_rf
APC_19021_mu | Hs00001124_mu | APC | 324 | NM_000038 | 19021 | c.4330C>T | p.Q1444* | SUBSTITUTION | 5:112175621-112175621 |  |  |  | 0.0025 | 38.7 | APC_rf | Hs00001012_rf
APC_19044_mu | Hs00001125_mu | APC | 324 | NM_000038 | 19044 | c.4199C>A | p.S1400* | SUBSTITUTION | 5:112175490-112175490 |  |  |  | 0.001 | 40 | APC_rf | Hs00001012_rf
APC_19069_mu | Hs00001447_mu | APC | 324 | NM_000038 | 19069 | c.3850G>T | p.E1284* | SUBSTITUTION | 5:112175141-112175141 |  |  |  | 0.001 | 39.9 | APC_rf | Hs00001012_rf
APC_19072_mu | Hs00001449_mu | APC | 324 | NM_000038 | 19072 | c.3871C>T | p.Q1291* | SUBSTITUTION | 5:112175162-112175162 |  |  |  | 0.001 | 38.1 | APC_rf | Hs00001012_rf
APC_19087_mu | Hs00001126_mu | APC | 324 | NM_000038 | 19087 | c.4216C>T | p.Q1406* | SUBSTITUTION | 5:112175507-112175507 |  |  |  | 0.001 | 36.2 | APC_rf | Hs00001012_rf
APC_19098_mu | Hs00001127_mu | APC | 324 | NM_000038 | 19098 | c.4463delT | p.L1488fs*19 | DELETION | 5:112175754-112175754 |  |  |  | 0.001 | 38 | APC_rf | Hs00001012_rf
APC_19099_mu | Hs00001128_mu | APC | 324 | NM_000038 | 19099 | c.3949G>C | p.E1317Q | SUBSTITUTION | 5:112175240-112175240 |  |  |  | 0.001 | 40 | APC_rf | Hs00001012_rf
APC_19127_mu | Hs00001450_mu | APC | 324 | NM_000038 | 19127 | c.4394_4395delGT | p.S1465fs*3 | DELETION | 5:112175685-112175686 |  |  |  | 0.001 | 40 | APC_rf | Hs00001012_rf
[NAME] | Hs00001130_mu | APC | 324 | NM_000038 | 19135 | c.4031C>A | p.S1344* | SUBSTITUTION | 5:112175322-112175322 |  |  |  | 0.001 | 40 | APC_rf | Hs00001012_rf
APC_19236_mu | Hs00001132_mu | APC | 324 | NM_000038 | 19236 | c.4333delA | p.T1445fs*28 | DELETION | 5:112175624-112175624 |  |  |  | 0.001 | 37.3 | APC_rf | Hs00001012_rf
APC_19275_mu | Hs00001451_mu | APC | 324 | NM_000038 | 19275 | c.3806_3807delTA | p.I1269fs*6 | DELETION | 5:112175097-112175098 |  |  |  | 0.001 | 40 | APC_rf | Hs00001012_rf
APC_19349_mu | Hs00001082_mu | APC | 324 | NM_000038 | 19349 | c.4479_4480delGG | p.E1494fs*19 | DELETION | 5:112175770-112175771 |  |  |  | 0.001 | 39.6 | APC_rf | Hs00001012_rf
APC_19664_mu | Hs00001084_mu | APC | 324 | NM_000038 | 19664 | c.3919delA | p.I1307fs*1 | DELETION | 5:112175210-112175210 |  |  |  | 0.001 | 40 | APC_rf | Hs00001012_rf
APC_23598_mu | Hs00001415_mu | APC | 324 | NM_000038 | 23598 | c.4483delA | p.S1495fs*12 | DELETION | 5:112175774-112175774 |  |  |  | 0.001 | 39.8 | APC_rf | Hs00001012_rf
APC_24946_mu | Hs00001080_mu | APC | 324 | NM_000038 | 24946 | c.4291delA | p.M1431fs*42 | DELETION | 5:112175582-112175582 |  |  |  | 0.001 | 40 | APC_rf | Hs00001012_rf
[NAME] | Hs00001031_mu | APC | 324 | NM_000038 | 25827 | c.4048A>T | p.K1350* | SUBSTITUTION | 5:112175339-112175339 |  |  |  | 0.001 | 40 | APC_rf | Hs00001012_rf
APC_29331_mu | Hs00001044_mu | APC | 324 | NM_000038 | 29331 | c.4063delT | p.S1355fs*60 | DELETION | 5:112175354-112175354 |  |  |  | 0.001 | 38.6 | APC_rf | Hs00001012_rf
APC_41618_mu | Hs00000988_mu | APC | 324 | NM_000038 | 41618 | c.4463_4466delTATT | p.L1488fs*18 | DELETION | 5:112175754-112175757 |  |  |  | 0.001 | 40 | APC_rf | Hs00001012_rf
ATM_12791_mu | Hs00001521_mu | ATM | 472 | NM_000051 | 12791 | c.7996A>G | p.T2666A | SUBSTITUTION | 11:108204681-108204681 |  |  |  | 0.001 | 38.2 | ATM_rf | Hs00001363_rf
ATM_12792_mu | Hs00001159_mu | ATM | 472 | NM_000051 | 12792 | c.5380C>T | p.L1794L | SUBSTITUTION | 11:108173640-108173640 |  |  |  | 0.001 | 38 | ATM_rf | Hs00001363_rf
ATM_12793_mu | Hs00001160_mu | ATM | 472 | NM_000051 | 12793 | c.2542G>C | p.E848Q | SUBSTITUTION | 11:108137973-108137973 |  |  |  | 0.001 | 40 | ATM_rf | Hs00001363_rf
ATM_12951_mu | Hs00001164_mu | ATM | 472 | NM_000051 | 12951 | c.7325A>C | p.Q2442P | SUBSTITUTION | 11:108200958-108200958 |  |  |  | 0.001 | 40 | ATM_rf | Hs00001363_rf
ATM_20404_mu | Hs00001089_mu | ATM | 472 | NM_000051 | 20404 | c.7328G>A | p.R2443Q | SUBSTITUTION | 11:108200961-108200961 |  |  |  | 0.0025 | 36.4 | ATM_rf | Hs00001363_rf
ATM_21624_mu | Hs00001102_mu | ATM | 472 | NM_000051 | 21624 | c.9139C>T | p.R3047* | SUBSTITUTION | 11:108236203-108236203 |  |  |  | 0.001 | 38.7 | ATM_rf | Hs00001363_rf
ATM_21626_mu | Hs00001407_mu | ATM | 472 | NM_000051 | 21626 | c.9023G>A | p.R3008H | SUBSTITUTION | 11:108236087-108236087 |  |  |  | 0.001 | 38 | ATM_rf | Hs00001363_rf
ATM_21636_mu | Hs00001103_mu | ATM | 472 | NM_000051 | 21636 | c.8084G>C | p.G2695A | SUBSTITUTION | 11:108205769-108205769 |  |  |  | 0.001 | 40 | ATM_rf | Hs00001363_rf
ATM_21642_mu | Hs00001104_mu | ATM | 472 | NM_000051 | 21642 | c.9022C>T | p.R3008C | SUBSTITUTION | 11:108236086-108236086 |  |  |  | 0.001 | 36.3 | ATM_rf | Hs00001363_rf
ATM_21825_mu | Hs00001408_mu | ATM | 472 | NM_000051 | 21825 | c.1229T>C | p.V410A | SUBSTITUTION | 11:108119823-108119823 |  |  |  | 0.001 | 37.7 | ATM_rf | Hs00001363_rf
ATM_21826_mu | Hs00001561_mu | ATM | 472 | NM_000051 | 21826 | c.2572T>C | p.F858L | SUBSTITUTION | 11:108138003-108138003 |  |  |  | 0.001 | 36.6 | ATM_rf | Hs00001363_rf
ATM_21918_mu | Hs00001056_mu | ATM | 472 | NM_000051 | 21918 | c.5224G>C | p.A1742P | SUBSTITUTION | 11:108172421-108172421 |  |  |  | 0.001 | 40 | ATM_rf | Hs00001363_rf
ATM_21919_mu | Hs00001562_mu | ATM | 472 | NM_000051 | 21919 | c.5041A>G | p.I1681V | SUBSTITUTION | 11:108170476-108170476 |  |  |  | 0.0025 | 38.5 | ATM_rf | Hs00001363_rf
ATM_21920_mu | Hs00001057_mu | ATM | 472 | NM_000051 | 21920 | c.5044G>T | p.D1682Y | SUBSTITUTION | 11:108170479-108170479 |  |  |  | 0.001 | 40 | ATM_rf | Hs00001363_rf
ATM_21922_mu | Hs00001058_mu | ATM | 472 | NM_000051 | 21922 | c.5821G>C | p.V1941L | SUBSTITUTION | 11:108180945-108180945 |  |  |  | 0.001 | 39.8 | ATM_rf | Hs00001363_rf
ATM_21924_mu | Hs00001409_mu | ATM | 472 | NM_000051 | 21924 | c.1058_1059delGT | p.C353fs*5 | DELETION | 11:108117847-108117848 |  |  |  | 0.001 | 40 | ATM_rf | Hs00001363_rf
ATM_21929_mu | Hs00001059_mu | ATM | 472 | NM_000051 | 21929 | c.8600G>A | p.G2867E | SUBSTITUTION | 11:108218021-108218021 |  |  |  | 0.001 | 39.1 | ATM_rf | Hs00001363_rf
ATM_21930_mu | Hs00001060_mu | ATM | 472 | NM_000051 | 21930 | c.8839A>T | p.T2947S | SUBSTITUTION | 11:108225590-108225590 |  |  |  | 0.001 | 40 | ATM_rf | Hs00001363_rf
ATM_21931_mu | Hs00001061_mu | ATM | 472 | NM_000051 | 21931 | c.1009C>A | p.R337S | SUBSTITUTION | 11:108117798-108117798 |  |  |  | 0.001 | 40 | ATM_rf | Hs00001363_rf
ATM_22481_mu | Hs00001066_mu | ATM | 472 | NM_000051 | 22481 | c.8174A>T | p.D2725V | SUBSTITUTION | 11:108206594-108206594 |  |  |  | 0.001 | 40 | ATM_rf | Hs00001363_rf
ATM_22485_mu | Hs00001067_mu | ATM | 472 | NM_000051 | 22485 | c.8668C>G | p.L2890V | SUBSTITUTION | 11:108218089-108218089 |  |  |  | 0.001 | 40 | ATM_rf | Hs00001363_rf
ATM_22499_mu | Hs00001068_mu | ATM | 472 | NM_000051 | 22499 | c.1810C>T | p.P604S | SUBSTITUTION | 11:108123551-108123551 |  |  |  | 0.001 | 40 | ATM_rf | Hs00001363_rf
ATM_22507_mu | [NAME] | ATM | 472 | NM_000051 | 22507 | c.3925G>A | p.A1309T | SUBSTITUTION | 11:108155132-108155132 |  |  |  | 0.001 | 36.2 | ATM_rf | Hs00001363_rf
BRAF_1111_mu | Hs00001279_mu | BRAF | 673 | NM_004333 | 1111 | c.1390G>C | p.G464R | SUBSTITUTION | 7:140481418-140481418 |  |  |  | 0.001 | 40 | BRAF_rf | Hs00000172_rf
BRAF_1112_mu | Hs00001280_mu | BRAF | 673 | NM_004333 | 1112 | c.1396G>C | p.G466R | SUBSTITUTION | 7:140481412-140481412 |  |  |  | 0.001 | 40 | BRAF_rf | Hs00000172_rf
BRAF_1113_mu | Hs00001281_mu | BRAF | 673 | NM_004333 | 1113 | c.1405_1407GGA>AGC | p.G469S | COMPLEX | 7:140481401-140481403 |  |  |  | 0.001 | 40 | BRAF_rf | Hs00000172_rf
BRAF_1119_mu | Hs00001282_mu | BRAF | 673 | NM_004333 | 1119 | c.1776A>G | p.I592M | SUBSTITUTION | 7:140453159-140453159 |  |  |  | 0.001 | 38.4 | BRAF_rf | Hs00000172_rf
BRAF_1120_mu | Hs00001494_mu | BRAF | 673 | NM_004333 | 1120 | c.1774A>G | p.I592V | SUBSTITUTION | 7:140453161-140453161 |  |  |  | 0.001 | 39.2 | BRAF_rf | Hs00000172_rf
BRAF_1121_mu | Hs00001283_mu | BRAF | 673 | NM_004333 | 1121 | c.1782T>A | p.D594E | SUBSTITUTION | 7:140453153-140453153 |  |  |  | 0.001 | 40 | BRAF_rf | Hs00000172_rf
[NAME] | Hs00001495_mu | BRAF | 673 | NM_004333 | 1123 | c.1784T>C | p.F595S | SUBSTITUTION | 7:140453151-140453151 |  |  |  | 0.0025 | 39.1 | BRAF_rf | Hs00000172_rf
BRAF_1125_mu | Hs00001284_mu | BRAF | 673 | NM_004333 | 1125 | c.1790T>A | p.L597Q | SUBSTITUTION | 7:140453145-140453145 |  |  |  | 0.001 | 40 | BRAF_rf | Hs00000172_rf
BRAF_1126_mu | Hs00001496_mu | BRAF | 673 | NM_004333 | 1126 | c.1789_1790CT>TC | p.L597S | COMPLEX | 7:140453145-140453146 |  |  |  | 0.001 | 40 | BRAF_rf | Hs00000172_rf
BRAF_1127_mu | Hs00001286_mu | BRAF | 673 | NM_004333 | 1127 | c.1797_1799AGT>GAG | p.V600R | COMPLEX | 7:140453136-140453138 |  |  |  | 0.001 | 40 | BRAF_rf | Hs00000172_rf
BRAF_1128_mu | Hs00001287_mu | BRAF | 673 | NM_004333 | 1128 | c.1797_1797A>TACTACG | p.T599_V600insTT | COMPLEX | 7:140453138-140453138 |  |  |  | 0.001 | 40 | BRAF_rf | Hs00000172_rf
BRAF_1130_mu | Hs00001385_mu | BRAF | 673 | NM_004333 | 1130 | c.1798G>A | p.V600M | SUBSTITUTION | 7:140453137-140453137 |  |  |  | 0.0025 | 36.91 | BRAF_rf | Hs00000172_rf
BRAF_1132_mu | Hs00001497_mu | BRAF | 673 | NM_004333 | 1132 | c.1803A>C | p.K601N | SUBSTITUTION | 7:140453132-140453132 |  |  |  | 0.001 | 38.7 | BRAF_rf | Hs00000172_rf
BRAF_1135_mu | Hs00001288_mu | BRAF | 673 | NM_004333 | 1135 | c.1813_1814AG>TT | p.S605F | COMPLEX | 7:140453121-140453122 |  |  |  | 0.001 | 40 | BRAF_rf | Hs00000172_rf
BRAF_1136_mu | Hs00001498_mu | BRAF | 673 | NM_004333 | 1136 | c.1814G>A | p.S605N | SUBSTITUTION | 7:140453121-140453121 |  |  |  | 0.001 | 40 | BRAF_rf | Hs00000172_rf
[NAME] | Hs00000957_mu | BRAF | 673 | NM_004333 | 18443 | c.1799T>C | p.V600A | SUBSTITUTION | 7:140453136-140453136 |  |  |  | 0.001 | 38.1 | BRAF_rf | Hs00000172_rf
BRAF_21609_mu | Hs00001101_mu | BRAF | 673 | NM_004333 | 21609 | c.1761C>A | p.D587E | SUBSTITUTION | 7:140453174-140453174 |  |  |  | 0.0025 | 38 | BRAF_rf | Hs00000172_rf
[NAME] | Hs00001422_mu | BRAF | 673 | NM_004333 | 21612 | c.1783T>C | p.F595L | SUBSTITUTION | 7:140453152-140453152 |  |  |  | 0.01 | 37 | BRAF_rf | Hs00000172_rf
BRAF_24642_mu | Hs00001075_mu | BRAF | 673 | NM_004333 | 24642 | c.1411G>T | p.V471F | SUBSTITUTION | 7:140481397-140481397 |  |  |  | 0.001 | 40 | BRAF_rf | Hs00000172_rf
BRAF_27912_mu | Hs00001040_mu | BRAF | 673 | NM_004333 | 27912 | c.1405_1407GGA>AGT | p.G469S | COMPLEX | 7:140481401-140481403 |  |  |  | 0.001 | 40 | BRAF_rf | Hs00000172_rf
BRAF_30594_mu | Hs00001046_mu | BRAF | 673 | NM_004333 | 30594 | c.1801_1803delAAA | p.K601del | DELETION | 7:140453132-140453134 |  |  |  | 0.001 | 40 | BRAF_rf | Hs00000172_rf
[NAME] | Hs00001574_mu | BRAF | 673 | NM_004333 | 33808 | c.1798G>T | p.V600L | SUBSTITUTION | 7:140453137-140453137 |  |  |  | 0.001 | 40 | BRAF_rf | Hs00000172_rf
BRAF_449_mu | Hs00001343_mu | BRAF | 673 | NM_004333 | 449 | c.1391G>A | p.G464E | SUBSTITUTION | 7:140481417-140481417 |  |  |  | 0.001 | 37 | BRAF_rf | Hs00000172_rf
BRAF_450_mu | Hs00001344_mu | BRAF | 673 | NM_004333 | 450 | c.1391G>T | p.G464V | SUBSTITUTION | 7:140481417-140481417 |  |  |  | 0.001 | 40 | BRAF_rf | Hs00000172_rf
BRAF_451_mu | Hs00001345_mu | BRAF | 673 | NM_004333 | 451 | c.1397G>T | p.G466V | SUBSTITUTION | 7:140481411-140481411 |  |  |  | 0.001 | 39.3 | BRAF_rf | Hs00000172_rf
BRAF_452_mu | Hs00001346_mu | BRAF | 673 | NM_004333 | 452 | c.1397G>C | p.G466A | SUBSTITUTION | 7:140481411-140481411 |  |  |  | 0.001 | 40 | BRAF_rf | Hs00000172_rf
BRAF_453_mu | Hs00001347_mu | BRAF | 673 | NM_004333 | 453 | c.1397G>A | p.G466E | SUBSTITUTION | 7:140481411-140481411 |  |  |  | 0.001 | 37.2 | BRAF_rf | Hs00000172_rf
BRAF_455_mu | Hs00001348_mu | BRAF | 673 | NM_004333 | 455 | c.1405G>C | p.G469R | SUBSTITUTION | 7:140481403-140481403 |  |  |  | 0.001 | 40 | BRAF_rf | Hs00000172_rf
BRAF_457_mu | Hs00001481_mu | BRAF | 673 | NM_004333 | 457 | c.1405G>A | p.G469R | SUBSTITUTION | 7:140481403-140481403 |  |  |  | 0.0025 | 40 | BRAF_rf | Hs00000172_rf |  |  | 27912(c.1405_1407GGA>AGT, p.G469S);1113(c.1405_1407GGA>AGC, p.G469S);
BRAF_458_mu | Hs00001425_mu | BRAF | 673 | NM_004333 | 458 | c.1405_1406GG>TC | p.G469S | COMPLEX | 7:140481402-140481403 |  |  |  | 0.001 | 40 | BRAF_rf | Hs00000172_rf
BRAF_459_mu | Hs00001350_mu | BRAF | 673 | NM_004333 | 459 | c.1406G>T | p.G469V | SUBSTITUTION | 7:140481402-140481402 |  |  |  | 0.001 | 40 | BRAF_rf | Hs00000172_rf
BRAF_460_mu | Hs00001351_mu | BRAF | 673 | NM_004333 | 460 | c.1406G>C | p.G469A | SUBSTITUTION | 7:140481402-140481402 |  |  |  | 0.001 | 40 | BRAF_rf | Hs00000172_rf |  |  | 458(c.1405_1406GG>TC, p.G469S);
BRAF_461_mu | [NAME] | BRAF | 673 | NM_004333 | 461 | c.1406G>A | p.G469E | SUBSTITUTION | 7:140481402-140481402 |  |  |  | 0.01 | 38.5 | BRAF_rf | Hs00000172_rf
BRAF_462_mu | Hs00001482_mu | BRAF | 673 | NM_004333 | 462 | c.1742A>G | p.N581S | SUBSTITUTION | 7:140453193-140453193 |  |  |  | 0.001 | 39.4 | BRAF_rf | Hs00000172_rf
BRAF_463_mu | Hs00001353_mu | BRAF | 673 | NM_004333 | 463 | c.1756G>A | p.E586K | SUBSTITUTION | 7:140453179-140453179 |  |  |  | 0.0025 | 37.1 | BRAF_rf | Hs00000172_rf
BRAF_464_mu | Hs00001354_mu | BRAF | 673 | NM_004333 | 464 | c.1760A>C | [NAME] | SUBSTITUTION | 7:140453175-140453175 |  |  |  | 0.001 | 39.8 | BRAF_rf | Hs00000172_rf
BRAF_465_mu | Hs00001355_mu | BRAF | 673 | NM_004333 | 465 | c.1761C>G | p.D587E | SUBSTITUTION | 7:140453174-140453174 |  |  |  | 0.001 | 40 | BRAF_rf | Hs00000172_rf
BRAF_466_mu | Hs00001356_mu | BRAF | 673 | NM_004333 | 466 | c.1781A>T | p.D594V | SUBSTITUTION | 7:140453154-140453154 |  |  |  | 0.001 | 40 | BRAF_rf | Hs00000172_rf
BRAF_467_mu | Hs00000996_mu | BRAF | 673 | NM_004333 | 467 | c.1781A>G | p.D594G | SUBSTITUTION | 7:140453154-140453154 |  |  |  | 0.001 | 37.7 | BRAF_rf | Hs00000172_rf
BRAF_468_mu | Hs00001483_mu | BRAF | 673 | NM_004333 | 468 | c.1785T>G | p.F595L | SUBSTITUTION | 7:140453150-140453150 |  |  |  | 0.001 | 38.7 | BRAF_rf | Hs00000172_rf
BRAF_469_mu | Hs00001357_mu | BRAF | 673 | NM_004333 | 469 | c.1786G>C | p.G596R | SUBSTITUTION | 7:140453149-140453149 |  |  |  | 0.001 | 40 | BRAF_rf | Hs00000172_rf
BRAF_470_mu | Hs00001358_mu | BRAF | 673 | NM_004333 | 470 | c.1789C>G | p.L597V | SUBSTITUTION | 7:140453146-140453146 |  |  |  | 0.001 | 40 | BRAF_rf | Hs00000172_rf
BRAF_471_mu | Hs00001359_mu | BRAF | 673 | NM_004333 | 471 | c.1790T>G | p.L597R | SUBSTITUTION | 7:140453145-140453145 |  |  |  | 0.001 | 39 | BRAF_rf | Hs00000172_rf
BRAF_472_mu | Hs00001484_mu | BRAF | 673 | NM_004333 | 472 | c.1796C>T | p.T599I | SUBSTITUTION | 7:140453139-140453139 |  |  |  | 0.001 | 36.2 | BRAF_rf | Hs00000172_rf
BRAF_473_mu | Hs00000769_mu | BRAF | 673 | NM_004333 | 473 | c.1798_1799GT>AA | p.V600K | COMPLEX | 7:140453136-140453137 |  |  |  | 0.001 | 40 | BRAF_rf | Hs00000172_rf
BRAF_474_mu | Hs00000770_mu | BRAF | 673 | NM_004333 | 474 | c.1798_1799GT>AG | p.V600R | COMPLEX | 7:140453136-140453137 |  |  |  | 0.001 | 40 | BRAF_rf | Hs00000172_rf
BRAF_475_mu | Hs00001384_mu | BRAF | 673 | NM_004333 | 475 | c.1799_1800TG>AA | p.V600E | COMPLEX | 7:140453135-140453136 |  |  |  | 0.001 | 38.73 | BRAF_rf | Hs00000172_rf
BRAF_476_mu | Hs00000111_mu | BRAF | 673 | NM_004333 | 476 | c.1799T>A | p.V600E | SUBSTITUTION | 7:140453136-140453136 | 2.008 | -1.117 | 9.96 | 0.001 | 40 | BRAF_rf | Hs00000172_rf | BRAF_476_wt | Hs00000110_wt
BRAF_477_mu | Hs00000772_mu | BRAF | 673 | NM_004333 | 477 | c.1799_1800TG>AT | p.V600D | COMPLEX | 7:140453135-140453136 |  |  |  | 0.001 | 40 | BRAF_rf | Hs00000172_rf
BRAF_478_mu | Hs00000773_mu | BRAF | 673 | NM_004333 | 478 | c.1801A>G | p.K601E | SUBSTITUTION | 7:140453134-140453134 |  |  |  | 0.001 | 40 | BRAF_rf | Hs00000172_rf
BRAF_53198_mu | Hs00001519_mu | BRAF | 673 | NM_004333 | 53198 | c.1785T>A | p.F595L | SUBSTITUTION | 7:140453150-140453150 |  |  |  | 0.001 | 39.4 | BRAF_rf | Hs00000172_rf
BRAF_6137_mu | Hs00001216_mu | BRAF | 673 | NM_004333 | 6137 | c.1799T>G | p.V600G | SUBSTITUTION | 7:140453136-140453136 |  |  |  | 0.001 | 38.8 | BRAF_rf | Hs00000172_rf
BRAF_6262_mu | Hs00001218_mu | BRAF | 673 | NM_004333 | 6262 | c.1330C>T | p.R444W | SUBSTITUTION | 7:140481478-140481478 |  |  |  | 0.001 | 36.9 | BRAF_rf | Hs00000172_rf
BRAF_6265_mu | Hs00001219_mu | BRAF | 673 | NM_004333 | 6265 | c.1803A>T | p.K601N | SUBSTITUTION | 7:140453132-140453132 |  |  |  | 0.001 | 39.7 | BRAF_rf | Hs00000172_rf
CDH1_19748_mu | Hs00001086_mu | CDH1 | 999 | NM_004360.2 | 19748 | c.1108G>C | p.D370H | SUBSTITUTION | 16:68846137-68846137 |  |  |  | 0.001 | 40 | CDH1_rf | Hs00001364_rf
CDH1_19761_mu | Hs00001087_mu | CDH1 | 999 | NM_004360.2 | 19761 | c.1196_1199delCTGA | p.T399fs*17 | DELETION | 16:68847274-68847277 |  |  |  | 0.001 | 40 | CDH1_rf | Hs00001364_rf
CDH1_28934_mu | Hs00001043_mu | CDH1 | 999 | NM_004360.2 | 28934 | c.240_241insGGTG | p.V82fs*13 | INSERTION | 16:68835649-68835650 |  |  |  | 0.001 | 40 | CDH1_rf | Hs00001364_rf
CDKN2A_12473_mu | Hs00000932_mu | CDKN2A | 1029 | NM_000077 | 12473 | c.172C>T | p.R58* | SUBSTITUTION | 9:21971186-21971186 |  |  |  | 0.001 | 37.7 | CDKN2A_rf | Hs00001013_rf |  |  | 12731(c.171_172CC>TT, p.R58*);
CDKN2A_12475_mu | Hs00000933_mu | CDKN2A | 1029 | NM_000077 | 12475 | c.238C>T | p.R80* | SUBSTITUTION | 9:21971120-21971120 |  |  |  | 0.001 | 34.6 | CDKN2A_rf | Hs00001013_rf |  |  | 13524(c.237_238CC>TT, p.R80*);
CDKN2A_12476_mu | Hs00000934_mu | CDKN2A | 1029 | NM_000077 | 12476 | c.341C>T | p.P114L | SUBSTITUTION | 9:21971017-21971017 |  |  |  | 0.001 | 39.1 | CDKN2A_rf | Hs00001013_rf
CDKN2A_12481_mu | Hs00001462_mu | CDKN2A | 1029 | NM_000077 | 12481 | c.329G>A | p.W110* | SUBSTITUTION | 9:21971029-21971029 |  |  |  | 0.001 | 37.6 | CDKN2A_rf | Hs00001013_rf |  |  | 13701(c.329_330GG>AA, p.W110*);
CDKN2A_12504_mu | Hs00000935_mu | CDKN2A | 1029 | NM_000077 | 12504 | c.247C>T | p.H83Y | SUBSTITUTION | 9:21971111-21971111 |  |  |  | 0.0025 | 35.2 | CDKN2A_rf | Hs00001013_rf
CDKN2A_12512_mu | Hs00000936_mu | CDKN2A | 1029 | NM_000077 | 12512 | c.262G>T | p.E88* | SUBSTITUTION | 9:21971096-21971096 |  |  |  | 0.001 | 39.9 | CDKN2A_rf | Hs00001013_rf
CDKN2A_12547_mu | Hs00000937_mu | CDKN2A | 1029 | NM_000077 | 12547 | c.330G>A | p.W110* | SUBSTITUTION | 9:21971028-21971028 |  |  |  | 0.001 | 39.9 | CDKN2A_rf | Hs00001013_rf
CDKN2A_12731_mu | Hs00001396_mu | CDKN2A | 1029 | NM_000077 | 12731 | c.171_172CC>TT | p.R58* | COMPLEX | 9:21971186-21971187 |  |  |  | 0.001 | 40 | CDKN2A_rf | Hs00001013_rf
CDKN2A_13281_mu | Hs00001183_mu | CDKN2A | 1029 | NM_000077 | 13281 | c.205G>T | p.E69* | SUBSTITUTION | 9:21971153-21971153 |  |  |  | 0.001 | 39.9 | CDKN2A_rf | Hs00001013_rf
CDKN2A_13299_mu | Hs00001184_mu | CDKN2A | 1029 | NM_000077 | 13299 | c.250G>T | p.D84Y | SUBSTITUTION | 9:21971108-21971108 |  |  |  | 0.001 | 39.9 | CDKN2A_rf | Hs00001013_rf
CDKN2A_13486_mu | Hs00001133_mu | CDKN2A | 1029 | NM_000077 | 13486 | c.181G>T | p.E61* | SUBSTITUTION | 9:21971177-21971177 |  |  |  | 0.001 | 40 | CDKN2A_rf | Hs00001013_rf
CDKN2A_13489_mu | Hs00001134_mu | CDKN2A | 1029 | NM_000077 | 13489 | c.322G>T | p.D108Y | SUBSTITUTION | 9:21971036-21971036 |  |  |  | 0.001 | 40 | CDKN2A_rf | Hs00001013_rf
CDKN2A_13524_mu | Hs00001397_mu | CDKN2A | 1029 | NM_000077 | 13524 | c.237_238CC>TT | p.R80* | COMPLEX | 9:21971120-21971121 |  |  |  | 0.001 | 40 | CDKN2A_rf | Hs00001013_rf
CDKN2A_13701_mu | Hs00001140_mu | CDKN2A | 1029 | NM_000077 | 13701 | c.329_330GG>AA | p.W110* | COMPLEX | 9:21971028-21971029 |  |  |  | 0.001 | 40 | CDKN2A_rf | Hs00001013_rf
CSF1R_946_mu | Hs00001308_mu | CSF1R | 1436 | NM_005211 | 946 | c.902T>A | p.L301* | SUBSTITUTION | 5:149453044-149453044 |  |  |  | 0.001 | 39 | CSF1R_rf | Hs00001365_rf
CSF1R_947_mu | Hs00001309_mu | CSF1R | 1436 | NM_005211 | 947 | c.2906A>G | p.Y969C | SUBSTITUTION | 5:149433645-149433645 |  |  |  | 0.001 | 37.9 | CSF1R_rf | Hs00001365_rf
CSF1R_948_mu | Hs00001310_mu | CSF1R | 1436 | NM_005211 | 948 | c.2906A>T | p.Y969F | SUBSTITUTION | 5:149433645-149433645 |  |  |  | 0.001 | 40 | CSF1R_rf | Hs00001365_rf
CSF1R_949_mu | Hs00001311_mu | CSF1R | 1436 | NM_005211 | 949 | c.2907T>G | p.Y969* | SUBSTITUTION | 5:149433644-149433644 |  |  |  | 0.001 | 39.9 | CSF1R_rf | Hs00001365_rf
CSF1R_952_mu | Hs00001312_mu | CSF1R | 1436 | NM_005211 | 952 | c.2905T>C | p.Y969H | SUBSTITUTION | 5:149433646-149433646 |  |  |  | 0.001 | 37.9 | CSF1R_rf | Hs00001365_rf
[NAME] | Hs00001313_mu | CSF1R | 1436 | NM_005211 | 954 | c.902T>C | p.L301S | SUBSTITUTION | 5:149453044-149453044 |  |  |  | 0.0025 | 40 | CSF1R_rf | Hs00001365_rf
CSF1R_955_mu | Hs00001314_mu | CSF1R | 1436 | NM_005211 | 955 | c.2907T>A | p.Y969* | SUBSTITUTION | 5:149433644-149433644 |  |  |  | 0.001 | 40 | CSF1R_rf | Hs00001365_rf
CTNNB1_5661_mu | Hs00000863_mu | CTNNB1 | 1499 | NM_001904 | 5661 | c.94G>T | p.D32Y | SUBSTITUTION | 3:41266097-41266097 |  |  |  | 0.001 | 40 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5662_mu | Hs00000864_mu | CTNNB1 | 1499 | NM_001904 | 5662 | c.110C>T | p.S37F | SUBSTITUTION | 3:41266113-41266113 |  |  |  | 0.001 | 40 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5663_mu | Hs00000865_mu | CTNNB1 | 1499 | NM_001904 | 5663 | c.133T>C | p.S45P | SUBSTITUTION | 3:41266136-41266136 |  |  |  | 0.001 | 36.1 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5664_mu | Hs00000866_mu | CTNNB1 | 1499 | NM_001904 | 5664 | c.121A>G | p.T41A | SUBSTITUTION | 3:41266124-41266124 |  |  |  | 0.001 | 38 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5666_mu | Hs00001257_mu | CTNNB1 | 1499 | NM_001904 | 5666 | c.110C>A | p.S37Y | SUBSTITUTION | 3:41266113-41266113 |  |  |  | 0.001 | 40 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5667_mu | Hs00000867_mu | CTNNB1 | 1499 | NM_001904 | 5667 | c.134C>T | p.S45F | SUBSTITUTION | 3:41266137-41266137 |  |  |  | 0.001 | 36.9 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5668_mu | Hs00000868_mu | CTNNB1 | 1499 | NM_001904 | 5668 | c.94G>C | p.D32H | SUBSTITUTION | 3:41266097-41266097 |  |  |  | 0.001 | 40 | CTNNB1_rf | Hs00001014_rf |  |  | 6064(c.74_97del24, p.W25_D32del);
CTNNB1_5669_mu | Hs00000869_mu | CTNNB1 | 1499 | NM_001904 | 5669 | c.98C>T | p.S33F | SUBSTITUTION | 3:41266101-41266101 |  |  |  | 0.001 | 39.1 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5670_mu | [NAME] | CTNNB1 | 1499 | NM_001904 | 5670 | c.101G>T | p.G34V | SUBSTITUTION | 3:41266104-41266104 |  |  |  | 0.001 | 40 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5671_mu | Hs00000871_mu | CTNNB1 | 1499 | NM_001904 | 5671 | c.101G>A | p.G34E | SUBSTITUTION | 3:41266104-41266104 |  |  |  | 0.001 | 39 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5672_mu | Hs00000872_mu | CTNNB1 | 1499 | NM_001904 | 5672 | c.94G>A | p.D32N | SUBSTITUTION | 3:41266097-41266097 |  |  |  | 0.001 | 39 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5673_mu | Hs00000873_mu | CTNNB1 | 1499 | NM_001904 | 5673 | c.98C>A | p.S33Y | SUBSTITUTION | 3:41266101-41266101 |  |  |  | 0.001 | 40 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5675_mu | Hs00001000_mu | CTNNB1 | 1499 | NM_001904 | 5675 | c.109T>G | p.S37A | SUBSTITUTION | 3:41266112-41266112 |  |  |  | 0.001 | 39.8 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5676_mu | Hs00000874_mu | CTNNB1 | 1499 | NM_001904 | 5676 | c.122C>T | p.T41I | SUBSTITUTION | 3:41266125-41266125 |  |  |  | 0.01 | 36.8 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5677_mu | Hs00000875_mu | CTNNB1 | 1499 | NM_001904 | 5677 | c.98C>G | p.S33C | SUBSTITUTION | 3:41266101-41266101 |  |  |  | 0.001 | 40 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5679_mu | Hs00000876_mu | CTNNB1 | 1499 | NM_001904 | 5679 | c.110C>G | p.S37C | SUBSTITUTION | 3:41266113-41266113 |  |  |  | 0.001 | 40 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5681_mu | Hs00001001_mu | CTNNB1 | 1499 | NM_001904 | 5681 | c.95A>G | p.D32G | SUBSTITUTION | 3:41266098-41266098 |  |  |  | 0.001 | 38.5 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5684_mu | Hs00001258_mu | CTNNB1 | 1499 | NM_001904 | 5684 | c.100G>C | p.G34R | SUBSTITUTION | 3:41266103-41266103 |  |  |  | 0.001 | 40 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5685_mu | Hs00001259_mu | CTNNB1 | 1499 | NM_001904 | 5685 | c.133T>G | p.S45A | SUBSTITUTION | 3:41266136-41266136 |  |  |  | 0.001 | 40 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5686_mu | Hs00000877_mu | CTNNB1 | 1499 | NM_001904 | 5686 | c.100G>A | p.G34R | SUBSTITUTION | 3:41266103-41266103 |  |  |  | 0.01 | 35.2 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5687_mu | Hs00000878_mu | CTNNB1 | 1499 | NM_001904 | 5687 | c.109T>C | p.S37P | SUBSTITUTION | 3:41266112-41266112 |  |  |  | 0.0025 | 36.2 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5688_mu | [NAME] | CTNNB1 | 1499 | NM_001904 | 5688 | c.121A>C | p.T41P | SUBSTITUTION | 3:41266124-41266124 |  |  |  | 0.001 | 40 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5689_mu | Hs00000879_mu | CTNNB1 | 1499 | NM_001904 | 5689 | c.134C>G | p.S45C | SUBSTITUTION | 3:41266137-41266137 |  |  |  | 0.001 | 40 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5690_mu | Hs00001261_mu | CTNNB1 | 1499 | NM_001904 | 5690 | c.95A>C | p.D32A | SUBSTITUTION | 3:41266098-41266098 |  |  |  | 0.001 | 37.8 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5691_mu | Hs00000880_mu | CTNNB1 | 1499 | NM_001904 | 5691 | c.95A>T | p.D32V | SUBSTITUTION | 3:41266098-41266098 |  |  |  | 0.001 | 40 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5692_mu | Hs00000881_mu | CTNNB1 | 1499 | NM_001904 | 5692 | c.134C>A | p.S45Y | SUBSTITUTION | 3:41266137-41266137 |  |  |  | 0.001 | 40 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5701_mu | Hs00001262_mu | CTNNB1 | 1499 | NM_001904 | 5701 | c.122C>G | p.T41S | SUBSTITUTION | 3:41266125-41266125 |  |  |  | 0.001 | 40 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5706_mu | Hs00001454_mu | CTNNB1 | 1499 | NM_001904 | 5706 | c.65T>C | p.V22A | SUBSTITUTION | 3:41266068-41266068 |  |  |  | 0.001 | 37.6 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5716_mu | Hs00001211_mu | CTNNB1 | 1499 | NM_001904 | 5716 | c.121A>T | p.T41S | SUBSTITUTION | 3:41266124-41266124 |  |  |  | 0.001 | 40 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5738_mu | Hs00001455_mu | CTNNB1 | 1499 | NM_001904 | 5738 | c.61G>A | p.A21T | SUBSTITUTION | 3:41266064-41266064 |  |  |  | 0.001 | 39.7 | CTNNB1_rf | Hs00001014_rf
CTNNB1_5747_mu | Hs00001456_mu | CTNNB1 | 1499 | NM_001904 | 5747 | c.37G>A | p.A13T | SUBSTITUTION | 3:41266040-41266040 |  |  |  | 0.0025 | 37.9 | CTNNB1_rf | Hs00001014_rf
CTNNB1_6050_mu | Hs00001214_mu | CTNNB1 | 1499 | NM_001904 | 6050 | c.64_114del51 | p.V22_G38del | DELETION | 3:41266067-41266117 |  |  |  | 0.001 | 40 | CTNNB1_rf | Hs00001014_rf
CTNNB1_6064_mu | Hs00001392_mu | CTNNB1 | 1499 | NM_001904 | 6064 | c.74_97del24 | p.W25_D32del | DELETION | 3:41266077-41266100 |  |  |  | 0.001 | 40 | CTNNB1_rf | Hs00001014_rf
EGFR_12366_mu | Hs00001225_mu | EGFR | 1956 | NM_005228 | 12366 | c.2572C>A | p.L858M | SUBSTITUTION | 7:55259514-55259514 |  |  |  | 0.001 | 40 | EGFR_rf | Hs00000173_rf |  |  | 13553(c.2572_2573CT>AG, p.L858R);
EGFR_12367_mu | Hs00000160_mu | EGFR | 1956 | NM_005228 | 12367 | c.2237_2254del18 | p.E746_S752>A | DELETION | 7:55242467-55242484 | -0.254 | -0.362 | 9.96 | 0.001 | 40 | EGFR_rf | Hs00000173_rf | EGFR_ex19dels_wt | Hs00000177_wt
EGFR_12369_mu | Hs00000161_mu | EGFR | 1956 | NM_005228 | 12369 | c.2240_2254del15 | p.L747_T751del | DELETION | 7:55242470-55242484 | -0.328 | -0.436 | 9.96 | 0.001 | 40 | EGFR_rf | Hs00000173_rf | EGFR_ex19dels_wt | Hs00000177_wt | 23571(c.2238_2252del15, p.L747_T751del);6254(c.2239_2253del15, p.L747_T751del);
EGFR_12370_mu | Hs00000162_mu | EGFR | 1956 | NM_005228 | 12370 | c.2240_2257del18 | p.L747_P753>S | DELETION | 7:55242470-55242487 | -0.077 | -0.186 | 9.96 | 0.001 | 40 | EGFR_rf | Hs00000173_rf | EGFR_ex19dels_wt | Hs00000177_wt
EGFR_12376_mu | Hs00000241_mu | EGFR | 1956 | NM_005228 | 12376 | c.2307_2308ins9 | p.V769_D770insASV | INSERTION | 7:55249009-55249010 | 0.569 |  | 9.96 | 0.001 | 40 | EGFR_rf | Hs00000173_rf
EGFR_12377_mu | Hs00000150_mu | EGFR | 1956 | NM_005228 | 12377 | [NAME] | p.H773_V774insH | INSERTION | 7:55249021-55249022 | 2.311 | 0.032 | 9.96 | 0.001 | 40 | EGFR_rf | Hs00000173_rf | EGFR_12377_wt | Hs00000149_wt
EGFR_12378_mu | Hs00000152_mu | EGFR | 1956 | NM_005228 | 12378 | c.2310_2311insGGT | p.D770_N771insG | INSERTION | 7:55249012-55249013 | -0.194 | 0.221 | 9.96 | 0.001 | 40 | EGFR_rf | Hs00000173_rf | EGFR_12378_wt | Hs00000151_wt
EGFR_12381_mu | Hs00001226_mu | EGFR | 1956 | NM_005228 | 12381 | c.2319_2320ins9 | p.H773_V774insNPH | INSERTION | 7:55249021-55249022 |  |  |  | 0.001 | 40 | EGFR_rf | Hs00000173_rf
EGFR_12382_mu | Hs00000163_mu | EGFR | 1956 | NM_005228 | 12382 | c.2239_2248TTAAGAGAAG>C | p.L747_A750>P | COMPLEX | 7:55242469-55242478 | -0.301 | -0.41 | 9.96 | 0.001 | 40 | EGFR_rf | Hs00000173_rf | EGFR_ex19dels_wt | Hs00000177_wt
[NAME] | Hs00000164_mu | EGFR | 1956 | NM_005228 | 12383 | c.2239_2251>C | p.L747_T751>P | COMPLEX | 7:55242469-55242481 | -0.341 | -0.449 | 9.96 | 0.001 | 40 | EGFR_rf | Hs00000173_rf | EGFR_ex19dels_wt | Hs00000177_wt
EGFR_12384_mu | Hs00000165_mu | EGFR | 1956 | NM_005228 | 12384 | c.2237_2255>T | p.E746_S752>V | COMPLEX | 7:55242467-55242485 | -0.315 | -0.423 | 9.96 | 0.001 | 40 | EGFR_rf | Hs00000173_rf | EGFR_ex19dels_wt | Hs00000177_wt
EGFR_12387_mu | Hs00000166_mu | EGFR | 1956 | NM_005228 | 12387 | c.2239_2258>CA | p.L747_P753>Q | COMPLEX | 7:55242469-55242488 | -0.198 | -0.307 | 9.96 | 0.001 | 40 | EGFR_rf | Hs00000173_rf | EGFR_ex19dels_wt | Hs00000177_wt
EGFR_12419_mu | Hs00000167_mu | EGFR | 1956 | NM_005228 | 12419 | c.2238_2252>GCA | p.L747_T751>Q | COMPLEX | 7:55242468-55242482 | -0.315 | -0.423 | 9.96 | 0.001 | 40 | EGFR_rf | Hs00000173_rf | EGFR_ex19dels_wt | Hs00000177_wt
EGFR_12422_mu | Hs00000168_mu | EGFR | 1956 | NM_005228 | 12422 | c.2238_2248>GC | p.L747_A750>P | COMPLEX | 7:55242468-55242478 | 0.771 | 0.662 | 9.96 | 0.001 | 40 | EGFR_rf | Hs00000173_rf | EGFR_ex19dels_wt | Hs00000177_wt
EGFR_12429_mu | Hs00001188_mu | EGFR | 1956 | NM_005228 | 12429 | c.2573_2574TG>GT | p.L858R | COMPLEX | 7:55259515-55259516 |  |  |  | 0.001 | 40 | EGFR_rf | Hs00000173_rf
EGFR_12678_mu | Hs00000169_mu | EGFR | 1956 | NM_005228 | 12678 | c.2237_2251del15 | p.E746_T751>A | DELETION | 7:55242467-55242481 | -0.403 | -0.512 | 9.96 | 0.001 | 40 | EGFR_rf | Hs00000173_rf | EGFR_ex19dels_wt | Hs00000177_wt
EGFR_12728_mu | Hs00000170_mu | EGFR | 1956 | NM_005228 | 12728 | c.2236_2253del18 | p.E746_T751del | DELETION | 7:55242466-55242483 | -0.23 | -0.339 | 9.96 | 0.001 | 40 | EGFR_rf | Hs00000173_rf | EGFR_ex19dels_wt | Hs00000177_wt
EGFR_12986_mu | Hs00001522_mu | EGFR | 1956 | NM_005228 | 12986 | c.2429G>A | p.G810D | SUBSTITUTION | 7:55249131-55249131 |  |  |  | 0.001 | 37.5 | EGFR_rf | Hs00000173_rf
EGFR_12988_mu | Hs00001523_mu | EGFR | 1956 | NM_005228 | 12988 | c.2125G>A | p.E709K | SUBSTITUTION | 7:55241677-55241677 |  |  |  | 0.001 | 38.9 | EGFR_rf | Hs00000173_rf
EGFR_13003_mu | Hs00001165_mu | EGFR | 1956 | NM_005228 | 13003 | c.2310_2311insAAC | p.D770_N771insN | INSERTION | 7:55249012-55249013 |  |  |  | 0.001 | 40 | EGFR_rf | Hs00000173_rf
EGFR_13004_mu | Hs00001166_mu | EGFR | 1956 | NM_005228 | 13004 | c.2310_2311insGGC | p.D770_N771insG | INSERTION | 7:55249012-55249013 |  |  |  | 0.001 | 40 | EGFR_rf | Hs00000173_rf
EGFR_13180_mu | Hs00001179_mu | EGFR | 1956 | NM_005228 | 13180 | c.2188C>T | p.L730F | SUBSTITUTION | 7:55242418-55242418 |  |  |  | 0.0025 | 37.3 | EGFR_rf | Hs00000173_rf
[NAME] | Hs00001475_mu | EGFR | 1956 | NM_005228 | 13181 | c.2198C>T | p.P733L | SUBSTITUTION | 7:55242428-55242428 |  |  |  | 0.001 | 39.5 | EGFR_rf | Hs00000173_rf
EGFR_13182_mu | Hs00001180_mu | EGFR | 1956 | NM_005228 | 13182 | c.2203G>A | p.G735S | SUBSTITUTION | 7:55242433-55242433 |  |  |  | 0.001 | 39.3 | EGFR_rf | Hs00000173_rf
EGFR_13183_mu | Hs00001181_mu | EGFR | 1956 | NM_005228 | 13183 | c.2225T>C | p.V742A | SUBSTITUTION | 7:55242455-55242455 |  |  |  | 0.001 | 36.9 | EGFR_rf | Hs00000173_rf
EGFR_13184_mu | Hs00001476_mu | EGFR | 1956 | NM_005228 | 13184 | c.2236G>A | p.E746K | SUBSTITUTION | 7:55242466-55242466 |  |  |  | 0.01 | 37.1 | EGFR_rf | Hs00000173_rf
EGFR_13186_mu | Hs00001182_mu | EGFR | 1956 | NM_005228 | 13186 | c.2255C>A | p.S752Y | SUBSTITUTION | 7:55242485-55242485 |  |  |  | 0.001 | 40 | EGFR_rf | Hs00000173_rf
EGFR_13188_mu | Hs00001477_mu | EGFR | 1956 | NM_005228 | 13188 | c.2281G>A | p.D761N | SUBSTITUTION | 7:55242511-55242511 |  |  |  | 0.001 | 40 | EGFR_rf | Hs00000173_rf
EGFR_13192_mu | Hs00001478_mu | EGFR | 1956 | NM_005228 | 13192 | c.2428G>A | p.G810S | SUBSTITUTION | 7:55249130-55249130 |  |  |  | 0.001 | 39.9 | EGFR_rf | Hs00000173_rf
EGFR_13427_mu | Hs00001155_mu | EGFR | 1956 | NM_005228 | 13427 | c.2126A>C | p.E709A | SUBSTITUTION | 7:55241678-55241678 |  |  |  | 0.001 | 39.2 | EGFR_rf | Hs00000173_rf
EGFR_13428_mu | Hs00001448_mu | EGFR | 1956 | NM_005228 | 13428 | c.2311_2312ins9 | p.D770_N771insSVD | INSERTION | 7:55249013-55249014 |  |  |  | 0.001 | 40 | EGFR_rf | Hs00000173_rf |  |  | 13554(c.2312_2315ACCC>GCGTGGACAACCG, p.N771_P772>SVDNR);
EGFR_13432_mu | Hs00001427_mu | EGFR | 1956 | NM_005228 | 13432 | c.2193G>A | p.W731* | SUBSTITUTION | 7:55242423-55242423 |  |  |  | 0.001 | 38.1 | EGFR_rf | Hs00000173_rf
[NAME] | Hs00001428_mu | EGFR | 1956 | NM_005228 | 13433 | c.2318A>G | p.H773R | SUBSTITUTION | 7:55249020-55249020 |  |  |  | 0.001 | 39.2 | EGFR_rf | Hs00000173_rf
EGFR_13549_mu | Hs00001136_mu | EGFR | 1956 | NM_005228 | 13549 | c.2235_2251>AG | p.E746_T751>A | COMPLEX | 7:55242465-55242481 |  |  |  | 0.001 | 40 | EGFR_rf | Hs00000173_rf
EGFR_13551_mu | Hs00000143_mu | EGFR | 1956 | NM_005228 | 13551 | c.2235_2252>AAT | p.E746_T751>I | COMPLEX | 7:55242465-55242482 | 0.098 | -0.01 | 9.96 | 0.001 | 40 | EGFR_rf | Hs00000173_rf | EGFR_ex19dels_wt | Hs00000177_wt
EGFR_13553_mu | Hs00001398_mu | EGFR | 1956 | NM_005228 | 13553 | c.2572_2573CT>AG | p.L858R | COMPLEX | 7:55259514-55259515 |  |  |  | 0.001 | 40 | EGFR_rf | Hs00000173_rf
EGFR_13554_mu | Hs00001429_mu | EGFR | 1956 | NM_005228 | 13554 | c.2312_2315ACCC>GCGTGGACAACCG | p.N771_P772>SVDNR | COMPLEX | 7:55249014-55249017 |  |  |  | 0.001 | 40 | EGFR_rf | Hs00000173_rf
EGFR_13556_mu | Hs00001138_mu | EGFR | 1956 | NM_005228 | 13556 | c.2253_2276del24 | p.S752_I759del | DELETION | 7:55242483-55242506 |  |  |  | 0.001 | 40 | EGFR_rf | Hs00000173_rf
EGFR_14243_mu | Hs00001437_mu | EGFR | 1956 | NM_005228 | 14243 | c.2234A>G | p.K745R | SUBSTITUTION | 7:55242464-55242464 |  |  |  | 0.001 | 38.7 | EGFR_rf | Hs00000173_rf
EGFR_18419_mu | Hs00001115_mu | EGFR | 1956 | NM_005228 | 18419 | c.2200G>A | p.E734K | SUBSTITUTION | 7:55242430-55242430 |  |  |  | 0.001 | 39 | EGFR_rf | Hs00000173_rf
EGFR_18425_mu | Hs00001440_mu | EGFR | 1956 | NM_005228 | 18425 | c.2156G>A | p.G719D | SUBSTITUTION | 7:55241708-55241708 |  |  |  | 0.001 | 38.6 | EGFR_rf | Hs00000173_rf
EGFR_18441_mu | Hs00001399_mu | EGFR | 1956 | NM_005228 | 18441 | c.2154_2155GG>TT | p.G719C | COMPLEX | 7:55241706-55241707 |  |  |  | 0.001 | 40 | EGFR_rf | Hs00000173_rf
EGFR_18442_mu | Hs00001441_mu | EGFR | 1956 | NM_005228 | 18442 | c.2241_2244AAGA>CCCG | p.L747_R748>FP | COMPLEX | 7:55242471-55242474 |  |  |  | 0.001 | 40 | EGFR_rf | Hs00000173_rf
EGFR_21683_mu | Hs00001105_mu | EGFR | 1956 | NM_005228 | 21683 | c.323G>A | p.R108K | SUBSTITUTION | 7:55211080-55211080 |  |  |  | 0.001 | 38.4 | EGFR_rf | Hs00000173_rf
EGFR_21687_mu | Hs00001106_mu | EGFR | 1956 | NM_005228 | 21687 | c.866C>T | p.A289V | SUBSTITUTION | 7:55221822-55221822 |  |  |  | 0.001 | 36.3 | EGFR_rf | Hs00000173_rf
EGFR_21690_mu | Hs00001055_mu | EGFR | 1956 | NM_005228 | 21690 | c.1793G>T | p.G598V | SUBSTITUTION | 7:55233043-55233043 |  |  |  | 0.001 | 39.2 | EGFR_rf | Hs00000173_rf
EGFR_21984_mu | Hs00001063_mu | EGFR | 1956 | NM_005228 | 21984 | c.2281G>T | p.D761Y | SUBSTITUTION | 7:55242511-55242511 |  |  |  | 0.001 | 40 | EGFR_rf | Hs00000173_rf
EGFR_24869_mu | [NAME] | EGFR | 1956 | NM_005228 | 24869 | c.2235_2252del18 | p.E746_T751del | DELETION | 7:55242465-55242482 |  |  |  | 0.001 | 40 | EGFR_rf | Hs00000173_rf
EGFR_6210_mu | Hs00000153_mu | EGFR | 1956 | NM_005228 | 6210 | c.2240_2251del12 | p.L747_T751>S | DELETION | 7:55242470-55242481 | -0.23 | -0.339 | 9.96 | 0.001 | 40 | EGFR_rf | Hs00000173_rf | EGFR_ex19dels_wt | Hs00000177_wt
EGFR_6213_mu | Hs00000141_mu | EGFR | 1956 | NM_005228 | 6213 | c.2582T>A | p.L861Q | SUBSTITUTION | 7:55259524-55259524 | -0.321 | 0.047 | 9.96 | 0.001 | 40 | EGFR_rf | Hs00000173_rf | EGFR_6213_wt | Hs00000140_wt
EGFR_6218_mu | Hs00000154_mu | EGFR | 1956 | NM_005228 | 6218 | c.2239_2247del9 | [NAME] | DELETION | 7:55242469-55242477 | 0.048 | -0.061 | 9.96 | 0.001 | 40 | EGFR_rf | Hs00000173_rf | EGFR_ex19dels_wt | Hs00000177_wt
EGFR_6220_mu | Hs00000155_mu | EGFR | 1956 | NM_005228 | 6220 | [NAME] | p.E746_S752>D | DELETION | 7:55242468-55242485 | 0.984 | 0.875 | 9.96 | 0.001 | 40 | EGFR_rf | Hs00000173_rf | EGFR_ex19dels_wt | Hs00000177_wt
EGFR_6223_mu | Hs00000156_mu | EGFR | 1956 | NM_005228 | 6223 | c.2235_2249del15 | p.E746_A750del | DELETION | 7:55242465-55242479 | -0.075 | -0.184 | 9.96 | 0.001 | 40 | EGFR_rf | Hs00000173_rf | EGFR_ex19dels_wt | Hs00000177_wt
EGFR_6224_mu | Hs00000102_mu | EGFR | 1956 | NM_005228 | 6224 | c.2573T>G | p.L858R | SUBSTITUTION | 7:55259515-55259515 | 0.717 | -0.008 | 9.96 | 0.001 | 40 | EGFR_rf | Hs00000173_rf | EGFR_6224_wt | Hs00000142_wt | 13553(c.2572_2573CT>AG, p.L858R);
EGFR_6225_mu | Hs00000157_mu | EGFR | 1956 | NM_005228 | 6225 | c.2236_2250del15 | p.E746_A750del | DELETION | 7:55242466-55242480 | -0.336 | -0.445 | 9.96 | 0.001 | 40 | EGFR_rf | Hs00000173_rf | EGFR_ex19dels_wt | Hs00000177_wt
EGFR_6239_mu | Hs00000104_mu | EGFR | 1956 | NM_005228 | 6239 | c.2156G>C | p.G719A | SUBSTITUTION | 7:55241708-55241708 | 0.363 | -0.008 | 9.96 | 0.001 | 40 | EGFR_rf | Hs00000173_rf | EGFR_6239_wt | Hs00000103_wt
EGFR_6240_mu | Hs00000106_mu | EGFR | 1956 | NM_005228 | 6240 | c.2369C>T | p.T790M | SUBSTITUTION | 7:55249071-55249071 | 2.227 | 1.765 | 9.61 | 0.01 | 33.5 | EGFR_rf | Hs00000173_rf | EGFR_6240_wt | Hs00000105_wt
EGFR_6241_mu | Hs00000108_mu | EGFR | 1956 | NM_005228 | 6241 | c.2303G>T | p.S768I | SUBSTITUTION | 7:55249005-55249005 | 0.122 | 0.033 | 9.96 | 0.001 | 40 | EGFR_rf | Hs00000173_rf | EGFR_6241_wt | Hs00000107_wt
[NAME] | Hs00000146_mu | EGFR | 1956 | NM_005228 | 6252 | c.2155G>A | p.G719S | SUBSTITUTION | 7:55241707-55241707 | 3.285 | 0.985 | 9.77 | 0.01 | 37.3 | EGFR_rf | Hs00000173_rf | EGFR_6252_wt | Hs00000109_wt
EGFR_6253_mu | Hs00000148_mu | EGFR | 1956 | NM_005228 | 6253 | c.2155G>T | p.G719C | SUBSTITUTION | 7:55241707-55241707 | 0.721 | -0.244 | 9.96 | 0.001 | 40 | EGFR_rf | Hs00000173_rf | EGFR_6253_wt | Hs00000147_wt | 18441(c.2154_2155GG>TT, p.G719C);
[NAME] | Hs00000158_mu | EGFR | 1956 | NM_005228 | 6254 | c.2239_2253del15 | p.L747_T751del | DELETION | 7:55242469-55242483 | -0.289 | -0.398 | 9.96 | 0.001 | 40 | EGFR_rf | Hs00000173_rf | EGFR_ex19dels_wt | Hs00000177_wt | 23571(c.2238_2252del15, p.L747_T751del);12369(c.2240_2254del15, p.L747_T751del);
EGFR_6255_mu | Hs00000159_mu | EGFR | 1956 | NM_005228 | 6255 | c.2239_2256del18 | p.L747_S752del | DELETION | 7:55242469-55242486 | -0.267 | -0.376 | 9.96 | 0.001 | 40 | EGFR_rf | Hs00000173_rf | EGFR_ex19dels_wt | Hs00000177_wt
EGFR_6256_mu | Hs00001458_mu | EGFR | 1956 | NM_005228 | 6256 | c.2254_2277del24 | p.S752_I759del | DELETION | 7:55242484-55242507 |  |  |  | 0.001 | 36.5 | EGFR_rf | Hs00000173_rf
EGFR_ex19dels_mu | Hs00000228_mu | EGFR | 1956 | NM_005229 | 6210;6218;6220;6223;6225;6254;6255;12367;12369;12370;12382;12383;12384;12387;12419;12422;12678;12728;13551 | c.2240_2251del12;c.2239_2247del9;c.2238_2255del18;c.2235_2249del15;c.2236_2250del15;c.2239_2253del15;c.2239_2256del18;c.2237_2254del18;c.2240_2254del15;c.2240_2257del18;c.2239_2248TTAAGAGAAG>C;c.2239_2251>C;c.2237_2255>T;c.2239_2258>CA;c.2238_2252>GCA;c.2238_2248>GC;c.2237_2251del15;c.2236_2253del18;c.2235_2252>AAT | p.L747_T751>S;p.L747_E749del;p.E746_S752>D;p.E746_A750del;p.E746_A750del;p.L747_T751del;p.L747_S752del;p.[NAME].L747_T751del;p.L747_P753>S;p.L747_A750>P;p.L747_T751>P;p.E746_S752>V;p.L747_P753>Q;p.L747_T751>Q;p.L747_A750>P;p.E746_T751>A;p.E746_T751del;p.E746_T751>I | DELETION;DELETION;DELETION;DELETION;DELETION;DELETION;DELETION;DELETION;DELETION;DELETION;COMPLEX;COMPLEX;COMPLEX;COMPLEX;COMPLEX;COMPLEX;DELETION;DELETION;COMPLEX | 7:55242470-55242481;7:55242469-55242477;7:55242468-55242485;7:55242465-55242479;7:55242466-55242480;7:55242469-55242483;7:55242469-55242486;7:55242467-55242484;7:55242470-55242484;7:55242470-55242487;7:55242469-55242478;7:55242469-55242481;7:55242467-55242485;7:55242469-55242488;7:55242468-55242482;7:55242468-55242478;7:55242467-55242481;7:55242466-55242483;7:55242465-55242482 | -0.053 | -0.162 | 9.96 | 0.001 | 40 | EGFR_rf | Hs00000173_rf | EGFR_ex19dels_wt | Hs00000177_wt | 23571(c.2238_2252del15, p.L747_T751del);
ERBB2_12552_mu | Hs00001189_mu | ERBB2 | 2064 | NM_004448 | 12552 | c.2326_2327insTTT | p.G776>VC | INSERTION | 17:37880997-37880998 |  |  |  | 0.001 | 40 | ERBB2_rf | Hs00001366_rf
ERBB2_12553_mu | Hs00001190_mu | ERBB2 | 2064 | NM_004448 | 12553 | c.2326_2327insTGT | p.G776>VC | INSERTION | 17:37880997-37880998 |  |  |  | 0.001 | 40 | ERBB2_rf | Hs00001366_rf
ERBB2_12556_mu | Hs00001191_mu | ERBB2 | 2064 | NM_004448 | 12556 | c.2340_2341ins9 | p.P780_Y781insGSP | INSERTION | 17:37881011-37881012 |  |  |  | 0.001 | 40 | ERBB2_rf | Hs00001366_rf
ERBB2_12558_mu | Hs00001463_mu | ERBB2 | 2064 | NM_004448 | 12558 | [NAME] | p.A775_G776insYVMA | INSERTION | 17:37880996-37880997 |  |  |  | 0.001 | 40 | ERBB2_rf | Hs00001366_rf
ERBB2_13170_mu | Hs00001178_mu | ERBB2 | 2064 | NM_004448 | 13170 | c.2305G>C | p.D769H | SUBSTITUTION | 17:37880261-37880261 |  |  |  | 0.001 | 40 | ERBB2_rf | Hs00001366_rf
ERBB2_14060_mu | Hs00001565_mu | ERBB2 | 2064 | NM_004448 | 14060 | c.2264T>C | p.L755S | SUBSTITUTION | 17:37880220-37880220 |  |  |  | 0.001 | 35.9 | ERBB2_rf | Hs00001366_rf
ERBB2_14062_mu | Hs00001142_mu | ERBB2 | 2064 | NM_004448 | 14062 | c.2329G>T | p.V777L | SUBSTITUTION | 17:37881000-37881000 |  |  |  | 0.001 | 40 | ERBB2_rf | Hs00001366_rf
ERBB2_14064_mu | Hs00001143_mu | ERBB2 | 2064 | NM_004448 | 14064 | c.2329G>A | p.V777M | SUBSTITUTION | 17:37881000-37881000 |  |  |  | 0.001 | 36.5 | ERBB2_rf | Hs00001366_rf
ERBB2_14065_mu | Hs00001144_mu | ERBB2 | 2064 | NM_004448 | 14065 | c.2524G>A | p.V842I | SUBSTITUTION | 17:37881332-37881332 |  |  |  | 0.001 | 37.1 | ERBB2_rf | Hs00001366_rf
ERBB2_18609_mu | Hs00001117_mu | ERBB2 | 2064 | NM_004448 | 18609 | c.2327G>T | p.G776V | SUBSTITUTION | 17:37880998-37880998 |  |  |  | 0.001 | 40 | ERBB2_rf | Hs00001366_rf
ERBB2_21985_mu | Hs00001064_mu | ERBB2 | 2064 | NM_004448 | 21985 | c.2632C>T | p.H878Y | SUBSTITUTION | 17:37881440-37881440 |  |  |  | 0.001 | 39.2 | ERBB2_rf | Hs00001366_rf
ERBB2_681_mu | Hs00001331_mu | ERBB2 | 2064 | NM_004448 | 681 | c.2335_2336ins9 | p.S779_P780insVGS | INSERTION | 17:37881006-37881007 |  |  |  | 0.001 | 40 | ERBB2_rf | Hs00001366_rf
ERBB2_682_mu | Hs00001485_mu | ERBB2 | 2064 | NM_004448 | 682 | c.2322_2323ins12 | p.M774_A775insAYVM | INSERTION | 17:37880993-37880994 |  |  |  | 0.001 | 40 | ERBB2_rf | Hs00001366_rf |  |  | 20959(c.2324_2325ins12, p.A775_G776insYVMA);
ERBB2_683_mu | Hs00001332_mu | ERBB2 | 2064 | NM_004448 | 683 | c.2263_2264TT>CC | p.L755P | COMPLEX | 17:37880219-37880220 |  |  |  | 0.001 | 40 | ERBB2_rf | Hs00001366_rf
ERBB2_685_mu | Hs00001333_mu | ERBB2 | 2064 | NM_004448 | 685 | c.2326G>A | p.G776S | SUBSTITUTION | 17:37880997-37880997 |  |  |  | 0.001 | 38.6 | ERBB2_rf | Hs00001366_rf
ERBB4_12833_mu | Hs00001161_mu | ERBB4 | 2066 | NM_005235 | 12833 | c.908C>A | p.S303Y | SUBSTITUTION | 2:212578349-212578349 |  |  |  | 0.001 | 40 | ERBB4_rf | Hs00001367_rf
ERBB4_20392_mu | Hs00001403_mu | ERBB4 | 2066 | NM_005235 | 20392 | c.419C>T | p.T140I | SUBSTITUTION | 2:212812157-212812157 |  |  |  | 0.001 | 38.2 | ERBB4_rf | Hs00001367_rf
ERBB4_48361_mu | Hs00001550_mu | ERBB4 | 2066 | NM_005235 | 48361 | c.2804A>T | p.K935I | SUBSTITUTION | 2:212288942-212288942 |  |  |  | 0.001 | 39.1 | ERBB4_rf | Hs00001367_rf
ERBB4_48362_mu | Hs00001551_mu | ERBB4 | 2066 | NM_005235 | 48362 | c.2791G>T | p.D931Y | SUBSTITUTION | 2:212288955-212288955 |  |  |  | 0.001 | 39.5 | ERBB4_rf | Hs00001367_rf
ERBB4_48363_mu | Hs00001552_mu | ERBB4 | 2066 | NM_005235 | 48363 | c.1853A>C | p.H618P | SUBSTITUTION | 2:212530066-212530066 |  |  |  | 0.001 | 37.1 | ERBB4_rf | Hs00001367_rf
ERBB4_48364_mu | Hs00001553_mu | ERBB4 | 2066 | NM_005235 | 48364 | c.1784A>T | p.D595V | SUBSTITUTION | 2:212530135-212530135 |  |  |  | 0.001 | 40 | ERBB4_rf | Hs00001367_rf
ERBB4_48365_mu | Hs00001554_mu | ERBB4 | 2066 | NM_005235 | 48365 | c.1042G>T | p.V348L | SUBSTITUTION | 2:212576857-212576857 |  |  |  | 0.001 | 40 | ERBB4_rf | Hs00001367_rf
ERBB4_48366_mu | Hs00001555_mu | ERBB4 | 2066 | NM_005235 | 48366 | c.916C>A | p.R306S | SUBSTITUTION | 2:212578341-212578341 |  |  |  | 0.001 | 39.9 | ERBB4_rf | Hs00001367_rf
ERBB4_48367_mu | Hs00001556_mu | ERBB4 | 2066 | NM_005235 | 48367 | c.854A>G | p.Y285C | SUBSTITUTION | 2:212587147-212587147 |  |  |  | 0.001 | 36.5 | ERBB4_rf | Hs00001367_rf
ERBB4_48368_mu | Hs00001505_mu | ERBB4 | 2066 | NM_005235 | 48368 | c.731C>G | p.T244R | SUBSTITUTION | 2:212589811-212589811 |  |  |  | 0.001 | 40 | ERBB4_rf | Hs00001367_rf
ERBB4_48369_mu | Hs00001506_mu | ERBB4 | 2066 | NM_005235 | 48369 | c.542A>G | p.N181S | SUBSTITUTION | 2:212652764-212652764 |  |  |  | 0.001 | 38.7 | ERBB4_rf | Hs00001367_rf
FBXW7_22932_mu | Hs00001410_mu | [NAME] | 55294 | NM_033632.1 | 22932 | c.1393C>T | p.R465C | SUBSTITUTION | 4:153249385-153249385 |  |  |  | 0.0025 | 38.5 | FBXW7_rf | Hs00001368_rf
FBXW7_22965_mu | Hs00001070_mu | [NAME] | 55294 | NM_033632.1 | 22965 | c.1394G>A | p.R465H | SUBSTITUTION | 4:153249384-153249384 |  |  |  | 0.0025 | 38.4 | FBXW7_rf | Hs00001368_rf
FBXW7_22971_mu | [NAME] | [NAME] | 55294 | NM_033632.1 | 22971 | c.832C>T | p.R278* | SUBSTITUTION | 4:153258983-153258983 |  |  |  | 0.0025 | 38 | FBXW7_rf | Hs00001368_rf
FBXW7_22973_mu | Hs00001412_mu | [NAME] | 55294 | NM_033632.1 | 22973 | c.1177C>T | p.R393* | SUBSTITUTION | 4:153250883-153250883 |  |  |  | 0.001 | 38 | FBXW7_rf | Hs00001368_rf
FBXW7_22974_mu | Hs00001071_mu | [NAME] | 55294 | NM_033632.1 | 22974 | c.1436G>A | p.R479Q | SUBSTITUTION | 4:153247366-153247366 |  |  |  | 0.0025 | 39.7 | FBXW7_rf | Hs00001368_rf
FBXW7_22975_mu | Hs00001413_mu | [NAME] | 55294 | NM_033632.1 | 22975 | c.1513C>T | p.R505C | SUBSTITUTION | 4:153247289-153247289 |  |  |  | 0.001 | 37.4 | FBXW7_rf | Hs00001368_rf
FBXW7_22979_mu | Hs00001414_mu | [NAME] | 55294 | NM_033632.1 | 22979 | c.1745C>T | p.S582L | SUBSTITUTION | 4:153245446-153245446 |  |  |  | 0.001 | 38.5 | FBXW7_rf | Hs00001368_rf
FBXW7_23000_mu | Hs00001072_mu | [NAME] | 55294 | NM_033632.1 | 23000 | c.1514G>T | p.R505L | SUBSTITUTION | 4:153247288-153247288 |  |  |  | 0.001 | 37.6 | FBXW7_rf | Hs00001368_rf
FGFR1_12834_mu | Hs00001162_mu | FGFR1 | 2260 | NM_023110 | 12834 | c.754C>A | p.P252T | SUBSTITUTION | 8:38282209-38282209 |  |  |  | 0.001 | 40 | FGFR1_rf | Hs00001369_rf
FGFR1_601_mu | Hs00001330_mu | FGFR1 | 2260 | NM_023110 | 601 | c.374C>T | p.S125L | SUBSTITUTION | 8:38285938-38285938 |  |  |  | 0.001 | 39.6 | FGFR1_rf | Hs00001369_rf
FGFR2_36901_mu | Hs00001053_mu | FGFR2 | 2263 | NM_000141.2 | 36901 | c.929A>G | p.K310R | SUBSTITUTION | 10:123279503-123279503 |  |  |  | 0.001 | 37.3 | FGFR2_rf | Hs00001370_rf
FGFR2_36902_mu | Hs00001054_mu | FGFR2 | 2263 | NM_000141.2 | 36902 | c.1647T>G | p.N549K | SUBSTITUTION | 10:123258034-123258034 |  |  |  | 0.001 | 38.9 | FGFR2_rf | Hs00001370_rf
FGFR2_36903_mu | Hs00001577_mu | FGFR2 | 2263 | NM_000141.2 | 36903 | c.755C>G | p.S252W | SUBSTITUTION | 10:123279677-123279677 |  |  |  | 0.001 | 39.4 | FGFR2_rf | Hs00001370_rf
FGFR2_36904_mu | Hs00001578_mu | FGFR2 | 2263 | NM_000141.2 | 36904 | c.1124A>G | [NAME] | SUBSTITUTION | 10:123274794-123274794 |  |  |  | 0.001 | 37 | FGFR2_rf | Hs00001370_rf
FGFR2_36905_mu | Hs00001579_mu | FGFR2 | 2263 | NM_000141.2 | 36905 | c.1115C>G | p.S372C | SUBSTITUTION | 10:123274803-123274803 |  |  |  | 0.001 | 40 | FGFR2_rf | Hs00001370_rf
FGFR2_36906_mu | Hs00001580_mu | FGFR2 | 2263 | NM_000141.2 | 36906 | c.1144T>C | p.C382R | SUBSTITUTION | 10:123274774-123274774 |  |  |  | 0.001 | 38.7 | FGFR2_rf | Hs00001370_rf
FGFR2_36912_mu | Hs00001581_mu | FGFR2 | 2263 | NM_000141.2 | 36912 | c.1647T>A | p.N549K | SUBSTITUTION | 10:123258034-123258034 |  |  |  | 0.001 | 40 | FGFR2_rf | Hs00001370_rf
FGFR3_17461_mu | Hs00000952_mu | FGFR3 | 2261 | NM_000142 | 17461 | c.1111A>T | p.S371C | SUBSTITUTION | 4:1806092-1806092 |  |  |  | 0.001 | 40 | FGFR3_rf | Hs00001015_rf
FGFR3_24802_mu | Hs00000972_mu | FGFR3 | 2261 | NM_000142 | 24802 | c.2089G>T | p.G697C | SUBSTITUTION | 4:1808331-1808331 |  |  |  | 0.001 | 40 | FGFR3_rf | Hs00001015_rf
FGFR3_24842_mu | Hs00001563_mu | FGFR3 | 2261 | NM_000142 | 24842 | c.1138G>A | p.G380R | SUBSTITUTION | 4:1806119-1806119 |  |  |  | 0.0025 | 40 | FGFR3_rf | Hs00001015_rf
FGFR3_29438_mu | Hs00001045_mu | FGFR3 | 2261 | NM_000142 | 29438 | c.1921G>A | p.D641N | SUBSTITUTION | 4:1807862-1807862 |  |  |  | 0.001 | 39.1 | FGFR3_rf | Hs00001015_rf
FGFR3_714_mu | Hs00000811_mu | FGFR3 | 2261 | NM_000142 | 714 | c.742C>T | p.R248C | SUBSTITUTION | 4:1803564-1803564 |  |  |  | 0.001 | 40 | FGFR3_rf | Hs00001015_rf
FGFR3_715_mu | Hs00000812_mu | FGFR3 | 2261 | NM_000142 | 715 | c.746C>G | p.S249C | SUBSTITUTION | 4:1803568-1803568 |  |  |  | 0.001 | 40 | FGFR3_rf | Hs00001015_rf
FGFR3_716_mu | Hs00000813_mu | FGFR3 | 2261 | NM_000142 | 716 | c.1108G>T | p.G370C | SUBSTITUTION | 4:1806089-1806089 |  |  |  | 0.001 | 40 | FGFR3_rf | Hs00001015_rf
FGFR3_718_mu | Hs00000814_mu | FGFR3 | 2261 | NM_000142 | 718 | c.1118A>G | p.Y373C | SUBSTITUTION | 4:1806099-1806099 |  |  |  | 0.001 | 38.5 | FGFR3_rf | Hs00001015_rf
FGFR3_719_mu | Hs00000815_mu | FGFR3 | 2261 | NM_000142 | 719 | c.1948A>G | p.K650E | SUBSTITUTION | 4:1807889-1807889 |  |  |  | 0.001 | 39.4 | FGFR3_rf | Hs00001015_rf
[NAME] | Hs00000816_mu | FGFR3 | 2261 | NM_000142 | 720 | c.1949A>T | p.K650M | SUBSTITUTION | 4:1807890-1807890 |  |  |  | 0.001 | 40 | FGFR3_rf | Hs00001015_rf
FGFR3_721_mu | Hs00000817_mu | FGFR3 | 2261 | NM_000142 | 721 | c.1172C>A | p.A391E | SUBSTITUTION | 4:1806153-1806153 |  |  |  | 0.001 | 40 | FGFR3_rf | Hs00001015_rf
FGFR3_726_mu | Hs00001342_mu | FGFR3 | 2261 | NM_000142 | 726 | c.1948A>C | p.K650Q | SUBSTITUTION | 4:1807889-1807889 |  |  |  | 0.001 | 40 | FGFR3_rf | Hs00001015_rf
FGFR3_729_mu | Hs00001487_mu | FGFR3 | 2261 | NM_000142 | 729 | c.2381_2381T>GA | p.L794fs*23 | COMPLEX | 4:1808949-1808949 |  |  |  | 0.001 | 40 | FGFR3_rf | Hs00001015_rf
FGFR3_731_mu | Hs00001290_mu | FGFR3 | 2261 | NM_000142 | 731 | c.1949A>C | p.K650T | SUBSTITUTION | 4:1807890-1807890 |  |  |  | 0.0025 | 36.8 | FGFR3_rf | Hs00001015_rf
FLT3_19522_mu | Hs00001452_mu | FLT3 | 2322 | Z26652 | 19522 | c.1775T>C | p.V592A | SUBSTITUTION | 13:28608281-28608281 |  |  |  | 0.0025 | 36.3 | FLT3_rf | Hs00001016_rf
FLT3_19686_mu | Hs00001085_mu | FLT3 | 2322 | Z26652 | 19686 | c.2508C>G | p.I836M | SUBSTITUTION | 13:28592637-28592637 |  |  |  | 0.001 | 40 | FLT3_rf | Hs00001016_rf
FLT3_19692_mu | Hs00001423_mu | FLT3 | 2322 | Z26652 | 19692 | c.2525A>G | p.Y842C | SUBSTITUTION | 13:28592620-28592620 |  |  |  | 0.001 | 38.3 | FLT3_rf | Hs00001016_rf
FLT3_19790_mu | Hs00001402_mu | FLT3 | 2322 | Z26652 | 19790 | c.1807_1808ins18 | [NAME] | INSERTION | 13:28608248-28608249 |  |  |  | 0.001 | 40 | FLT3_rf | Hs00001016_rf
FLT3_24531_mu | Hs00001074_mu | FLT3 | 2322 | Z26652 | 24531 | c.2509_2510AT>CC | p.M837P | COMPLEX | 13:28592635-28592636 |  |  |  | 0.001 | 40 | FLT3_rf | Hs00001016_rf
FLT3_25248_mu | Hs00001030_mu | FLT3 | 2322 | Z26652 | 25248 | c.2492G>A | p.G831E | SUBSTITUTION | 13:28592653-28592653 |  |  |  | 0.001 | 37.3 | FLT3_rf | Hs00001016_rf
FLT3_27906_mu | Hs00001038_mu | FLT3 | 2322 | Z26652 | 27906 | c.1796A>T | [NAME] | SUBSTITUTION | 13:28608260-28608260 |  |  |  | 0.001 | 39.6 | FLT3_rf | Hs00001016_rf
FLT3_27979_mu | Hs00001419_mu | FLT3 | 2322 | Z26652 | 27979 | c.1788_1789ins36 | p.E596_Y597ins12 | INSERTION | 13:28608267-28608268 |  |  |  | 0.001 | 40 | FLT3_rf | Hs00001016_rf
FLT3_28042_mu | Hs00001041_mu | FLT3 | 2322 | Z26652 | 28042 | c.1352C>T | p.S451F | SUBSTITUTION | 13:28610138-28610138 |  |  |  | 0.001 | 36.3 | FLT3_rf | Hs00001016_rf
FLT3_28044_mu | Hs00001420_mu | FLT3 | 2322 | Z26652 | 28044 | c.1715A>G | p.Y572C | SUBSTITUTION | 13:28608341-28608341 |  |  |  | 0.001 | 40 | FLT3_rf | Hs00001016_rf
FLT3_28047_mu | Hs00001421_mu | FLT3 | 2322 | Z26652 | 28047 | c.2501G>A | p.R834Q | SUBSTITUTION | 13:28592644-28592644 |  |  |  | 0.001 | 39.4 | FLT3_rf | Hs00001016_rf
FLT3_28771_mu | Hs00001570_mu | FLT3 | 2322 | Z26652 | 28771 | c.1811_1812ins30 | p.W603_E604insDREYEYDLKW | INSERTION | 13:28608244-28608245 |  |  |  | 0.001 | 40 | FLT3_rf | Hs00001016_rf
FLT3_28921_mu | Hs00001571_mu | FLT3 | 2322 | Z26652 | 28921 | c.1798_1799ins45 | p.Y599_D600ins15 | INSERTION | 13:28608257-28608258 |  |  |  | 0.001 | 40 | FLT3_rf | Hs00001016_rf
FLT3_783_mu | Hs00000835_mu | FLT3 | 2322 | Z26652 | 783 | c.2503G>T | p.D835Y | SUBSTITUTION | 13:28592642-28592642 |  |  |  | 0.001 | 40 | FLT3_rf | Hs00001016_rf
FLT3_784_mu | Hs00000836_mu | FLT3 | 2322 | Z26652 | 784 | c.2504A>T | p.D835V | SUBSTITUTION | 13:28592641-28592641 |  |  |  | 0.001 | 39.4 | FLT3_rf | Hs00001016_rf
FLT3_785_mu | Hs00000837_mu | FLT3 | 2322 | Z26652 | 785 | c.2503G>C | p.D835H | SUBSTITUTION | 13:28592642-28592642 |  |  |  | 0.001 | 40 | FLT3_rf | Hs00001016_rf
FLT3_786_mu | Hs00001489_mu | FLT3 | 2322 | Z26652 | 786 | c.2039C>T | p.A680V | SUBSTITUTION | 13:28602329-28602329 |  |  |  | 0.0025 | 36.8 | FLT3_rf | Hs00001016_rf
FLT3_787_mu | Hs00001298_mu | FLT3 | 2322 | Z26652 | 787 | c.2505T>A | p.D835E | SUBSTITUTION | 13:28592640-28592640 |  |  |  | 0.001 | 40 | FLT3_rf | Hs00001016_rf
FLT3_788_mu | Hs00001299_mu | FLT3 | 2322 | Z26652 | 788 | c.2505T>G | p.D835E | SUBSTITUTION | 13:28592640-28592640 |  |  |  | 0.001 | 40 | FLT3_rf | Hs00001016_rf
FLT3_796_mu | Hs00001300_mu | FLT3 | 2322 | Z26652 | 796 | c.2503_2505delGAT | p.D835del | DELETION | 13:28592640-28592642 |  |  |  | 0.001 | 39.4 | FLT3_rf | Hs00001016_rf
FLT3_797_mu | Hs00000838_mu | FLT3 | 2322 | Z26652 | 797 | c.2506_2508delATC | p.I836del | DELETION | 13:28592637-28592639 |  |  |  | 0.001 | 40 | FLT3_rf | Hs00001016_rf |  |  | 19836(c.2508_2510delCAT, p.I836del);
FLT3_850_mu | Hs00001301_mu | FLT3 | 2322 | Z26652 | 850 | c.2520_2521insGGATCC | p.S840_N841insGS | INSERTION | 13:28592624-28592625 |  |  |  | 0.001 | 40 | FLT3_rf | Hs00001016_rf
GNAS_27887_mu | Hs00000976_mu | GNAS | 2778 | NM_000516.3 | 27887 | c.601C>T | p.R201C | SUBSTITUTION | 20:57484420-57484420 |  |  |  | 0.001 | 37.8 | GNAS_rf | Hs00001017_rf
GNAS_27895_mu | Hs00000977_mu | GNAS | 2778 | NM_000516.3 | 27895 | c.602G>A | p.R201H | SUBSTITUTION | 20:57484421-57484421 |  |  |  | 0.0025 | 39.1 | GNAS_rf | Hs00001017_rf
[NAME] | Hs00001559_mu | HNF1A | 6927 | NM_000545.3 | 21471 | c.617G>T | p.W206L | SUBSTITUTION | 12:121431413-121431413 |  |  |  | 0.001 | 40 | HNF1A_rf | Hs00001371_rf
HNF1A_21477_mu | Hs00001560_mu | HNF1A | 6927 | NM_000545.3 | 21477 | c.817A>G | p.K273E | SUBSTITUTION | 12:121432070-121432070 |  |  |  | 0.001 | 36.6 | HNF1A_rf | Hs00001371_rf
HNF1A_21478_mu | Hs00001100_mu | HNF1A | 6927 | NM_000545.3 | 21478 | c.618G>T | p.W206C | SUBSTITUTION | 12:121431414-121431414 |  |  |  | 0.001 | 40 | HNF1A_rf | Hs00001371_rf
HRAS_33695_mu | Hs00001050_mu | HRAS | 3265 | NM_005343 | 33695 | c.182_183AG>GA | p.Q61R | COMPLEX | 11:533873-533874 |  |  |  | 0.001 | 40 | HRAS_rf | Hs00001018_rf
HRAS_480_mu | Hs00000774_mu | HRAS | 3265 | NM_005343 | 480 | c.34G>A | p.G12S | SUBSTITUTION | 11:534289-534289 |  |  |  | 0.001 | 40 | HRAS_rf | Hs00001018_rf
HRAS_481_mu | Hs00000775_mu | HRAS | 3265 | NM_005343 | 481 | c.34G>T | p.G12C | SUBSTITUTION | 11:534289-534289 |  |  |  | 0.0025 | 40 | HRAS_rf | Hs00001018_rf
HRAS_482_mu | Hs00000776_mu | HRAS | 3265 | NM_005343 | 482 | c.34G>C | p.G12R | SUBSTITUTION | 11:534289-534289 |  |  |  | 0.001 | 40 | HRAS_rf | Hs00001018_rf
HRAS_483_mu | Hs00000777_mu | HRAS | 3265 | NM_005343 | 483 | c.35G>T | p.G12V | SUBSTITUTION | 11:534288-534288 |  |  |  | 0.001 | 40 | HRAS_rf | Hs00001018_rf
HRAS_484_mu | Hs00000778_mu | HRAS | 3265 | NM_005343 | 484 | c.35G>A | p.G12D | SUBSTITUTION | 11:534288-534288 |  |  |  | 0.001 | 40 | HRAS_rf | Hs00001018_rf
HRAS_485_mu | Hs00000779_mu | HRAS | 3265 | NM_005343 | 485 | c.35G>C | p.G12A | SUBSTITUTION | 11:534288-534288 |  |  |  | 0.001 | 40 | HRAS_rf | Hs00001018_rf
HRAS_486_mu | Hs00000780_mu | HRAS | 3265 | NM_005343 | 486 | c.37G>C | p.G13R | SUBSTITUTION | 11:534286-534286 |  |  |  | 0.001 | 40 | HRAS_rf | Hs00001018_rf
HRAS_487_mu | Hs00000781_mu | HRAS | 3265 | NM_005343 | 487 | c.37G>A | p.G13S | SUBSTITUTION | 11:534286-534286 |  |  |  | 0.001 | 38.2 | HRAS_rf | Hs00001018_rf
HRAS_488_mu | Hs00000782_mu | HRAS | 3265 | NM_005343 | 488 | c.37G>T | p.G13C | SUBSTITUTION | 11:534286-534286 |  |  |  | 0.001 | 40 | HRAS_rf | Hs00001018_rf
HRAS_489_mu | Hs00000783_mu | HRAS | 3265 | NM_005343 | 489 | c.38G>T | [NAME] | SUBSTITUTION | 11:534285-534285 |  |  |  | 0.001 | 40 | HRAS_rf | Hs00001018_rf
HRAS_490_mu | Hs00000784_mu | HRAS | 3265 | NM_005343 | 490 | c.38G>A | p.G13D | SUBSTITUTION | 11:534285-534285 |  |  |  | 0.001 | 36.1 | HRAS_rf | Hs00001018_rf
HRAS_496_mu | Hs00000785_mu | HRAS | 3265 | NM_005343 | 496 | c.181C>A | p.Q61K | SUBSTITUTION | 11:533875-533875 |  |  |  | 0.001 | 39.2 | HRAS_rf | Hs00001018_rf |  |  | 52979(c.181_182CA>AG, p.Q61R);
HRAS_498_mu | Hs00000786_mu | HRAS | 3265 | NM_005343 | 498 | c.182A>T | p.Q61L | SUBSTITUTION | 11:533874-533874 |  |  |  | 0.001 | 40 | HRAS_rf | Hs00001018_rf
HRAS_499_mu | Hs00000787_mu | HRAS | 3265 | NM_005343 | 499 | c.182A>G | p.Q61R | SUBSTITUTION | 11:533874-533874 |  |  |  | 0.0025 | 38.4 | HRAS_rf | Hs00001018_rf |  |  | 52979(c.181_182CA>AG, p.Q61R);
HRAS_500_mu | Hs00000788_mu | HRAS | 3265 | NM_005343 | 500 | c.182A>C | p.Q61P | SUBSTITUTION | 11:533874-533874 |  |  |  | 0.001 | 40 | HRAS_rf | Hs00001018_rf
HRAS_501_mu | Hs00001426_mu | HRAS | 3265 | NM_005343 | 501 | c.182_183AG>GT | p.Q61R | COMPLEX | 11:533873-533874 |  |  |  | 0.001 | 40 | HRAS_rf | Hs00001018_rf
HRAS_502_mu | Hs00000789_mu | HRAS | 3265 | NM_005343 | 502 | c.183G>T | p.Q61H | SUBSTITUTION | 11:533873-533873 |  |  |  | 0.001 | 40 | HRAS_rf | Hs00001018_rf |  |  | 501(c.182_183AG>GT, p.Q61R);
HRAS_503_mu | Hs00000790_mu | HRAS | 3265 | NM_005343 | 503 | c.183G>C | p.Q61H | SUBSTITUTION | 11:533873-533873 |  |  |  | 0.001 | 40 | HRAS_rf | Hs00001018_rf
HRAS_52978_mu | Hs00001517_mu | HRAS | 3265 | NM_005343 | 52978 | c.182_183AG>TA | p.Q61L | COMPLEX | 11:533873-533874 |  |  |  | 0.0025 | 40 | HRAS_rf | Hs00001018_rf
HRAS_52979_mu | Hs00001518_mu | HRAS | 3265 | NM_005343 | 52979 | c.181_182CA>AG | p.Q61R | COMPLEX | 11:533874-533875 |  |  |  | 0.001 | 40 | HRAS_rf | Hs00001018_rf
IDH1_28746_mu | Hs00000981_mu | IDH1 | 3417 | [NAME] | 28746 | c.395G>A | p.R132H | SUBSTITUTION | 2:209113112-209113112 |  |  |  | 0.0025 | 37.9 | IDH1_rf | Hs00001019_rf
IDH1_28747_mu | [NAME] | IDH1 | 3417 | [NAME] | 28747 | c.394C>T | p.R132C | SUBSTITUTION | 2:209113113-209113113 |  |  |  | 0.0025 | 37.3 | IDH1_rf | Hs00001019_rf
IDH1_28748_mu | Hs00000983_mu | IDH1 | 3417 | [NAME] | 28748 | c.394C>A | p.R132S | SUBSTITUTION | 2:209113113-209113113 |  |  |  | 0.001 | 40 | IDH1_rf | Hs00001019_rf
IDH1_28749_mu | Hs00000984_mu | IDH1 | 3417 | [NAME] | 28749 | c.394C>G | p.R132G | SUBSTITUTION | 2:209113113-209113113 |  |  |  | 0.001 | 40 | IDH1_rf | Hs00001019_rf
IDH1_28750_mu | Hs00000985_mu | IDH1 | 3417 | [NAME] | 28750 | c.395G>T | p.R132L | SUBSTITUTION | 2:209113112-209113112 |  |  |  | 0.001 | 40 | IDH1_rf | Hs00001019_rf
JAK2_12600_mu | Hs00000940_mu | JAK2 | 3717 | ENST00000381652 | 12600 | c.1849G>T | p.V617F | SUBSTITUTION | 9:5073770-5073770 |  |  |  | 0.001 | 40 | JAK2_rf | Hs00001020_rf |  |  | 25834(c.1848_1849TG>CT, p.V617F);
JAK2_25834_mu | Hs00001400_mu | JAK2 | 3717 | ENST00000381652 | 25834 | c.1848_1849TG>CT | p.V617F | COMPLEX | 9:5073769-5073770 |  |  |  | 0.001 | 40 | JAK2_rf | Hs00001020_rf
[NAME] | Hs00001575_mu | [NAME] | 3718 | NM_000215 | 34213 | c.2164G>A | p.V722I | SUBSTITUTION | 19:17945696-17945696 |  |  |  | 0.001 | 37 | JAK3_rf | Hs00001372_rf
JAK3_34214_mu | Hs00001576_mu | [NAME] | 3718 | NM_000215 | 34214 | c.1715C>T | p.A572V | SUBSTITUTION | 19:17948009-17948009 |  |  |  | 0.0025 | 36.7 | JAK3_rf | Hs00001372_rf
JAK3_34216_mu | Hs00001051_mu | [NAME] | 3718 | NM_000215 | 34216 | c.394C>A | p.P132T | SUBSTITUTION | 19:17954215-17954215 |  |  |  | 0.001 | 39.5 | JAK3_rf | Hs00001372_rf
KDR_21091_mu | Hs00001094_mu | KDR | 3791 | NM_002253 | 21091 | c.743C>G | p.A248G | SUBSTITUTION | 4:55980348-55980348 |  |  |  | 0.001 | 40 | KDR_rf | Hs00001373_rf
[NAME] | Hs00001573_mu | KDR | 3791 | NM_002253 | 32294 | c.2617G>A | p.G873R | SUBSTITUTION | 4:55962507-55962507 |  |  |  | 0.0025 | 38.6 | KDR_rf | Hs00001373_rf
KDR_32339_mu | Hs00001048_mu | KDR | 3791 | NM_002253 | 32339 | c.824G>T | p.R275L | SUBSTITUTION | 4:55979623-55979623 |  |  |  | 0.001 | 39.3 | KDR_rf | Hs00001373_rf
KDR_48460_mu | Hs00001507_mu | KDR | 3791 | NM_002253 | 48460 | c.3629C>T | p.P1210L | SUBSTITUTION | 4:55953807-55953807 |  |  |  | 0.001 | 38.5 | KDR_rf | Hs00001373_rf
[NAME] | Hs00001508_mu | KDR | 3791 | NM_002253 | 48461 | c.3434G>A | p.G1145E | SUBSTITUTION | 4:55955111-55955111 |  |  |  | 0.001 | 38 | KDR_rf | Hs00001373_rf
KDR_48462_mu | Hs00001509_mu | KDR | 3791 | NM_002253 | 48462 | c.3418C>A | p.L1140M | SUBSTITUTION | 4:55955127-55955127 |  |  |  | 0.001 | 39.4 | KDR_rf | Hs00001373_rf
KDR_48463_mu | Hs00001510_mu | KDR | 3791 | NM_002253 | 48463 | [NAME] | p.S984T | SUBSTITUTION | 4:55960989-55960989 |  |  |  | 0.001 | 40 | KDR_rf | Hs00001373_rf
KDR_48464_mu | Hs00001511_mu | KDR | 3791 | NM_002253 | 48464 | c.2917G>T | p.A973S | SUBSTITUTION | 4:55961023-55961023 |  |  |  | 0.001 | 40 | KDR_rf | Hs00001373_rf
KDR_48465_mu | Hs00001512_mu | KDR | 3791 | NM_002253 | 48465 | c.1426G>T | p.V476L | SUBSTITUTION | 4:55972964-55972964 |  |  |  | 0.001 | 40 | KDR_rf | Hs00001373_rf
KDR_48875_mu | Hs00001514_mu | KDR | 3791 | NM_002253 | 48875 | c.3922G>T | p.G1308* | SUBSTITUTION | 4:55946257-55946257 |  |  |  | 0.0025 | 40 | KDR_rf | Hs00001373_rf
KDR_48977_mu | Hs00001515_mu | KDR | 3791 | NM_002253 | 48977 | c.4063_4065delCCT | p.P1355del | DELETION | 4:55946114-55946116 |  |  |  | 0.001 | 40 | KDR_rf | Hs00001373_rf
KIT_1146_mu | Hs00001499_mu | KIT | 3815 | NM_000222 | 1146 | c.154G>A | p.D52N | SUBSTITUTION | 4:55561764-55561764 |  |  |  | 0.001 | 37.8 | KIT_rf | Hs00001021_rf
[NAME] | Hs00001500_mu | KIT | 3815 | NM_000222 | 1163 | c.1648_1674del27 | p.K550_K558del | DELETION | 4:55593582-55593608 |  |  |  | 0.001 | 40 | KIT_rf | Hs00001021_rf
[NAME] | Hs00001289_mu | KIT | 3815 | NM_000222 | 1169 | c.1651_1665del15 | p.P551_V555del | DELETION | 4:55593585-55593599 |  |  |  | 0.001 | 40 | KIT_rf | Hs00001021_rf
KIT_1216_mu | Hs00001238_mu | KIT | 3815 | NM_000222 | 1216 | c.1669T>A | p.W557R | SUBSTITUTION | 4:55593603-55593603 |  |  |  | 0.001 | 40 | KIT_rf | Hs00001021_rf
KIT_1217_mu | Hs00000840_mu | KIT | 3815 | NM_000222 | 1217 | c.1669_1674delTGGAAG | p.W557_K558del | DELETION | 4:55593603-55593608 |  |  |  | 0.001 | 40 | KIT_rf | Hs00001021_rf |  |  | 1210(c.1667_1672delAGTGGA, p.W557_K558del);
[NAME] | Hs00001239_mu | KIT | 3815 | NM_000222 | 1219 | c.1669T>C | p.W557R | SUBSTITUTION | 4:55593603-55593603 |  |  |  | 0.001 | 37.8 | KIT_rf | Hs00001021_rf
KIT_1221_mu | Hs00000841_mu | KIT | 3815 | NM_000222 | 1221 | c.1669T>G | p.W557G | SUBSTITUTION | 4:55593603-55593603 |  |  |  | 0.001 | 39.4 | KIT_rf | Hs00001021_rf |  |  | 1217(c.1669_1674delTGGAAG, p.W557_K558del);1332(c.1669_1683del15, p.W557_E561del);1210(c.1667_1672delAGTGGA, p.W557_K558del);
[NAME] | Hs00001240_mu | KIT | 3815 | NM_000222 | 1234 | c.1672_1680del9 | p.K558_V560del | DELETION | 4:55593606-55593614 |  |  |  | 0.001 | 40 | KIT_rf | Hs00001021_rf
KIT_1251_mu | Hs00001501_mu | KIT | 3815 | NM_000222 | 1251 | c.1675G>A | p.V559I | SUBSTITUTION | 4:55593609-55593609 |  |  |  | 0.001 | 38.7 | KIT_rf | Hs00001021_rf
KIT_1252_mu | Hs00000843_mu | KIT | 3815 | NM_000222 | 1252 | c.1676T>A | p.V559D | SUBSTITUTION | [NAME] |  |  |  | 0.001 | 40 | KIT_rf | Hs00001021_rf
[NAME] | Hs00001241_mu | KIT | 3815 | NM_000222 | 1253 | c.1676T>G | p.V559G | SUBSTITUTION | [NAME] |  |  |  | 0.001 | 39.8 | KIT_rf | Hs00001021_rf
[NAME] | Hs00000844_mu | KIT | 3815 | NM_000222 | 1255 | c.1676T>C | p.V559A | SUBSTITUTION | [NAME] |  |  |  | 0.001 | 37.4 | KIT_rf | Hs00001021_rf
KIT_1257_mu | Hs00000845_mu | KIT | 3815 | NM_000222 | 1257 | c.1679T>A | p.V560D | SUBSTITUTION | 4:55593613-55593613 |  |  |  | 0.001 | 40 | KIT_rf | Hs00001021_rf |  |  | 1247(c.1675_1677delGTT, p.V559del);
[NAME] | Hs00001242_mu | KIT | 3815 | NM_000222 | 1260 | c.1679T>G | p.V560G | SUBSTITUTION | 4:55593613-55593613 |  |  |  | 0.001 | 40 | KIT_rf | Hs00001021_rf
KIT_12706_mu | Hs00000941_mu | KIT | 3815 | NM_000222 | 12706 | c.1961T>C | p.V654A | SUBSTITUTION | 4:55594258-55594258 |  |  |  | 0.0025 | 39.7 | KIT_rf | Hs00001021_rf
KIT_12708_mu | Hs00001203_mu | KIT | 3815 | NM_000222 | 12708 | c.2009C>T | p.T670I | SUBSTITUTION | 4:55595519-55595519 |  |  |  | 0.001 | 39.8 | KIT_rf | Hs00001021_rf
[NAME] | Hs00000846_mu | KIT | 3815 | NM_000222 | 1290 | c.1727T>C | p.L576P | SUBSTITUTION | 4:55593661-55593661 |  |  |  | 0.001 | 37.1 | KIT_rf | Hs00001021_rf
[NAME] | Hs00000847_mu | KIT | 3815 | NM_000222 | 1294 | c.1735_1737delGAT | p.D579del | DELETION | 4:55593669-55593671 |  |  |  | 0.001 | 40 | KIT_rf | Hs00001021_rf
KIT_1299_mu | Hs00001243_mu | KIT | 3815 | NM_000222 | 1299 | c.1755C>T | p.P585P | SUBSTITUTION | 4:55593689-55593689 |  |  |  | 0.001 | 37.8 | KIT_rf | Hs00001021_rf
KIT_1304_mu | Hs00000848_mu | KIT | 3815 | NM_000222 | 1304 | c.1924A>G | p.K642E | SUBSTITUTION | 4:55594221-55594221 |  |  |  | 0.001 | 36.1 | KIT_rf | Hs00001021_rf
KIT_1306_mu | Hs00001244_mu | KIT | 3815 | NM_000222 | 1306 | c.2143_2145delAGC | p.S715del | DELETION | 4:55597495-55597497 |  |  |  | 0.001 | 39.8 | KIT_rf | Hs00001021_rf
[NAME] | Hs00000849_mu | KIT | 3815 | NM_000222 | 1310 | c.2446G>T | p.D816Y | SUBSTITUTION | 4:55599320-55599320 |  |  |  | 0.001 | 40 | KIT_rf | Hs00001021_rf
KIT_1311_mu | Hs00000850_mu | KIT | 3815 | NM_000222 | 1311 | c.2446G>C | p.D816H | SUBSTITUTION | 4:55599320-55599320 |  |  |  | 0.001 | 40 | KIT_rf | Hs00001021_rf
[NAME] | Hs00000851_mu | KIT | 3815 | NM_000222 | 1314 | c.2447A>T | p.D816V | SUBSTITUTION | 4:55599321-55599321 |  |  |  | 0.001 | 40 | KIT_rf | Hs00001021_rf
KIT_1321_mu | Hs00001245_mu | KIT | 3815 | NM_000222 | 1321 | c.2466T>A | p.N822K | SUBSTITUTION | 4:55599340-55599340 |  |  |  | 0.001 | 40 | KIT_rf | Hs00001021_rf
KIT_1322_mu | Hs00001246_mu | KIT | 3815 | NM_000222 | 1322 | c.2466T>G | p.N822K | SUBSTITUTION | 4:55599340-55599340 |  |  |  | 0.001 | 37.4 | KIT_rf | Hs00001021_rf
KIT_1323_mu | Hs00000852_mu | KIT | 3815 | NM_000222 | 1323 | c.2474T>C | p.V825A | SUBSTITUTION | 4:55599348-55599348 |  |  |  | 0.001 | 37.8 | KIT_rf | Hs00001021_rf
[NAME] | Hs00001247_mu | KIT | 3815 | NM_000222 | 1324 | c.2515G>A | p.E839K | SUBSTITUTION | 4:55602694-55602694 |  |  |  | 0.001 | 39.2 | KIT_rf | Hs00001021_rf
KIT_1326_mu | Hs00000853_mu | KIT | 3815 | NM_000222 | 1326 | c.1509_1510insGCCTAT | p.Y503_F504insAY | INSERTION | 4:55592185-55592186 |  |  |  | 0.001 | 40 | KIT_rf | Hs00001021_rf
KIT_18681_mu | Hs00001118_mu | KIT | 3815 | NM_000222 | 18681 | c.2467T>G | p.Y823D | SUBSTITUTION | 4:55599341-55599341 |  |  |  | 0.001 | 38.9 | KIT_rf | Hs00001021_rf
KIT_18896_mu | Hs00001446_mu | KIT | 3815 | NM_000222 | 18896 | c.1673_1687del15 | [NAME] | DELETION | 4:55593607-55593621 |  |  |  | 0.0025 | 40 | KIT_rf | Hs00001021_rf |  |  | 1239(c.1672_1686del15, p.K558_E562del);
[NAME] | Hs00001039_mu | KIT | 3815 | NM_000222 | 27909 | c.1656_1673del18 | p.Y553_K558> | DELETION | 4:55593590-55593607 |  |  |  | 0.001 | 40 | KIT_rf | Hs00001021_rf
[NAME] | Hs00000978_mu | KIT | 3815 | NM_000222 | 28026 | c.1621A>C | p.M541L | SUBSTITUTION | 4:55593464-55593464 |  |  |  | 0.001 | 39.8 | KIT_rf | Hs00001021_rf
[NAME] | Hs00001202_mu | KRAS | 3845 | NM_004985 | 12703 | c.57G>C | p.L19F | SUBSTITUTION | 12:25398262-25398262 |  |  |  | 0.001 | 40 | KRAS_rf | Hs00000174_rf
KRAS_12721_mu | Hs00001204_mu | KRAS | 3845 | NM_004985 | 12721 | c.38_39GC>TT | [NAME] | COMPLEX | 12:25398280-25398281 |  |  |  | 0.001 | 40 | KRAS_rf | Hs00000174_rf
KRAS_12729_mu | Hs00001206_mu | KRAS | 3845 | NM_004985 | 12729 | c.180_181TC>CA | p.Q61K | COMPLEX | 12:25380277-25380278 |  |  |  | 0.001 | 40 | KRAS_rf | Hs00000174_rf
KRAS_14209_mu | Hs00001154_mu | KRAS | 3845 | NM_004985 | 14209 | c.35_36GT>AC | p.G12D | COMPLEX | 12:25398283-25398284 |  |  |  | 0.001 | 38.6 | KRAS_rf | Hs00000174_rf
KRAS_19404_mu | Hs00001083_mu | KRAS | 3845 | NM_004985 | 19404 | c.436G>A | p.A146T | SUBSTITUTION | 12:25378562-25378562 |  |  |  | 0.0025 | 37.8 | KRAS_rf | Hs00000174_rf
[NAME] | Hs00001090_mu | KRAS | 3845 | NM_004985 | 20818 | c.57G>T | p.L19F | SUBSTITUTION | 12:25398262-25398262 |  |  |  | 0.0025 | 39.9 | KRAS_rf | Hs00000174_rf
KRAS_512_mu | Hs00001386_mu | KRAS | 3845 | NM_004985 | 512 | c.34_35GG>TT | p.G12F | COMPLEX | 12:25398284-25398285 |  |  |  | 0.001 | 40 | KRAS_rf | Hs00000174_rf
KRAS_513_mu | Hs00001316_mu | KRAS | 3845 | NM_004985 | 513 | c.34_36GGT>TGC | p.G12C | COMPLEX | 12:25398283-25398285 |  |  |  | 0.001 | 40 | KRAS_rf | Hs00000174_rf
KRAS_515_mu | Hs00001317_mu | KRAS | 3845 | NM_004985 | 515 | c.35_36GT>TC | p.G12V | COMPLEX | 12:25398283-25398284 |  |  |  | 0.001 | 40 | KRAS_rf | Hs00000174_rf
KRAS_516_mu | Hs00000113_mu | KRAS | 3845 | NM_004985 | 516 | c.34G>T | p.G12C | SUBSTITUTION | 12:25398285-25398285 | 1.728 | 0.135 | 9.96 | 0.001 | 40 | KRAS_rf | Hs00000174_rf | KRAS_516_wt | Hs00000112_wt
KRAS_517_mu | Hs00000115_mu | KRAS | 3845 | NM_004985 | 517 | c.34G>A | p.G12S | SUBSTITUTION | 12:25398285-25398285 | 2.854 | 1.21 | 9.96 | 0.001 | 37.5 | KRAS_rf | Hs00000174_rf | KRAS_517_wt | Hs00000114_wt
[NAME] | Hs00000117_mu | KRAS | 3845 | NM_004985 | 518 | c.34G>C | p.G12R | SUBSTITUTION | 12:25398285-25398285 | 2.055 | 0.473 | 9.96 | 0.001 | 40 | KRAS_rf | Hs00000174_rf | KRAS_518_wt | Hs00000116_wt
KRAS_520_mu | Hs00000119_mu | KRAS | 3845 | NM_004985 | 520 | c.35G>T | p.G12V | SUBSTITUTION | 12:25398284-25398284 | 2.621 | 1.315 | 9.96 | 0.001 | 40 | KRAS_rf | Hs00000174_rf | KRAS_520_wt | Hs00000118_wt | 512(c.34_35GG>TT, p.[NAME]);
KRAS_521_mu | Hs00000121_mu | KRAS | 3845 | NM_004985 | 521 | c.35G>A | p.G12D | SUBSTITUTION | 12:25398284-25398284 | 2.666 | 1.404 | 9.96 | 0.001 | 36.4 | KRAS_rf | Hs00000174_rf | KRAS_521_wt | Hs00000120_wt
KRAS_522_mu | Hs00000123_mu | KRAS | 3845 | NM_004985 | 522 | c.35G>C | p.G12A | SUBSTITUTION | 12:25398284-25398284 | 1.66 | 0.602 | 9.96 | 0.001 | 40 | KRAS_rf | Hs00000174_rf | KRAS_522_wt | Hs00000122_wt
KRAS_526_mu | Hs00001387_mu | KRAS | 3845 | NM_004985 | 526 | c.37_39GGC>CGT | p.G13R | COMPLEX | 12:25398280-25398282 |  |  |  | 0.001 | 40 | KRAS_rf | Hs00000174_rf
[NAME] | Hs00000125_mu | KRAS | 3845 | NM_004985 | 527 | c.37G>T | p.G13C | SUBSTITUTION | 12:25398282-25398282 | 1.739 | 0.666 | 9.96 | 0.001 | 40 | KRAS_rf | Hs00000174_rf | KRAS_527_wt | Hs00000124_wt
[NAME] | Hs00000127_mu | KRAS | 3845 | NM_004985 | 528 | c.37G>A | p.G13S | SUBSTITUTION | 12:25398282-25398282 | 1.296 | 0.085 | 9.96 | 0.0025 | 35.4 | KRAS_rf | Hs00000174_rf | KRAS_528_wt | Hs00000126_wt
[NAME] | Hs00000129_mu | KRAS | 3845 | NM_004985 | 529 | c.37G>C | p.G13R | SUBSTITUTION | 12:25398282-25398282 | 1.108 | 0.162 | 9.96 | 0.001 | 40 | KRAS_rf | Hs00000174_rf | KRAS_529_wt | Hs00000128_wt | 526(c.37_39GGC>CGT, p.G13R);
[NAME] | Hs00001319_mu | KRAS | 3845 | NM_004985 | 530 | c.38_39GC>TG | [NAME] | COMPLEX | 12:25398280-25398281 |  |  |  | 0.001 | 40 | KRAS_rf | Hs00000174_rf
KRAS_531_mu | Hs00001388_mu | KRAS | 3845 | NM_004985 | 531 | c.38_39GC>AT | p.G13D | COMPLEX | 12:25398280-25398281 |  |  |  | 0.001 | 40 | KRAS_rf | Hs00000174_rf
KRAS_532_mu | Hs00000131_mu | KRAS | 3845 | NM_004985 | 532 | c.38G>A | p.G13D | SUBSTITUTION | 12:25398281-25398281 | 3.001 | 1.373 | 9.96 | 0.001 | 36.5 | KRAS_rf | Hs00000174_rf | KRAS_532_wt | Hs00000130_wt | 531(c.38_39GC>AT, p.G13D);
KRAS_533_mu | Hs00001321_mu | KRAS | 3845 | NM_004985 | 533 | c.38G>C | p.G13A | SUBSTITUTION | 12:25398281-25398281 |  |  |  | 0.001 | 40 | KRAS_rf | Hs00000174_rf
[NAME] | Hs00001322_mu | KRAS | 3845 | NM_004985 | 534 | c.38G>T | [NAME] | SUBSTITUTION | 12:25398281-25398281 |  |  |  | 0.001 | 40 | KRAS_rf | Hs00000174_rf
KRAS_543_mu | Hs00001323_mu | KRAS | 3845 | NM_004985 | 543 | c.64C>A | p.Q22K | SUBSTITUTION | 12:25398255-25398255 |  |  |  | 0.001 | 40 | KRAS_rf | Hs00000174_rf
KRAS_546_mu | Hs00001324_mu | KRAS | 3845 | NM_004985 | 546 | c.175G>A | p.A59T | SUBSTITUTION | 12:25380283-25380283 |  |  |  | 0.001 | 38.1 | KRAS_rf | Hs00000174_rf
[NAME] | Hs00001325_mu | KRAS | 3845 | NM_004985 | 549 | c.181C>A | p.Q61K | SUBSTITUTION | 12:25380277-25380277 |  |  |  | 0.001 | 40 | KRAS_rf | Hs00000174_rf
KRAS_550_mu | Hs00001326_mu | KRAS | 3845 | NM_004985 | 550 | c.181C>G | p.Q61E | SUBSTITUTION | 12:25380277-25380277 |  |  |  | 0.001 | 40 | KRAS_rf | Hs00000174_rf
KRAS_551_mu | Hs00001327_mu | KRAS | 3845 | NM_004985 | 551 | c.182A>C | p.Q61P | SUBSTITUTION | 12:25380276-25380276 |  |  |  | 0.001 | 40 | KRAS_rf | Hs00000174_rf
KRAS_552_mu | Hs00000133_mu | KRAS | 3845 | NM_004985 | 552 | c.182A>G | p.Q61R | SUBSTITUTION | 12:25380276-25380276 | 0.033 | -0.656 | 9.96 | 0.001 | 36.8 | KRAS_rf | Hs00000174_rf | [NAME] | Hs00000132_wt
KRAS_553_mu | [NAME] | KRAS | 3845 | NM_004985 | 553 | c.182A>T | p.Q61L | SUBSTITUTION | 12:25380276-25380276 | -0.332 | 0.017 | 9.96 | 0.001 | 40 | KRAS_rf | Hs00000174_rf | KRAS_553_wt | Hs00000134_wt
KRAS_554_mu | Hs00000137_mu | KRAS | 3845 | NM_004985 | 554 | c.183A>C | p.Q61H | SUBSTITUTION | 12:25380275-25380275 | 0.803 | 0.987 | 9.96 | 0.001 | 40 | KRAS_rf | Hs00000174_rf | KRAS_554_wt | Hs00000136_wt
[NAME] | Hs00000139_mu | KRAS | 3845 | NM_004985 | 555 | c.183A>T | p.Q61H | SUBSTITUTION | 12:25380275-25380275 | -0.387 | -0.243 | 9.96 | 0.001 | 40 | KRAS_rf | Hs00000174_rf | KRAS_555_wt | Hs00000138_wt
KRAS_87281_mu | Hs00001557_mu | KRAS | 3845 | NM_004985 | 87281 | c.36_37TG>AT | p.G13C | COMPLEX | 12:25398282-25398283 |  |  |  | 0.001 | 40 | KRAS_rf | Hs00000174_rf
KRAS_87298_mu | Hs00001558_mu | KRAS | 3845 | NM_004985 | 87298 | c.180_181TC>AA | p.Q61K | COMPLEX | 12:25380277-25380278 |  |  |  | 0.001 | 40 | KRAS_rf | Hs00000174_rf
MET_690_mu | Hs00001486_mu | MET | 4233 | NM_000245 | 690 | c.3742T>C | p.Y1248H | SUBSTITUTION | 7:116423413-116423413 |  |  |  | 0.001 | 37.6 | MET_rf | Hs00001374_rf
MET_691_mu | Hs00001334_mu | MET | 4233 | NM_000245 | 691 | c.3803T>C | p.M1268T | SUBSTITUTION | 7:116423474-116423474 |  |  |  | 0.001 | 37.4 | MET_rf | Hs00001374_rf
MET_696_mu | Hs00001335_mu | MET | 4233 | NM_000245 | 696 | c.3334C>T | p.H1112Y | SUBSTITUTION | 7:116417463-116417463 |  |  |  | 0.001 | 37.4 | MET_rf | Hs00001374_rf
MET_699_mu | Hs00001336_mu | MET | 4233 | NM_000245 | 699 | c.3743A>G | p.Y1248C | SUBSTITUTION | 7:116423414-116423414 |  |  |  | 0.0025 | 36.1 | MET_rf | Hs00001374_rf
MET_700_mu | Hs00001337_mu | MET | 4233 | NM_000245 | 700 | c.3757T>G | p.Y1253D | SUBSTITUTION | 7:116423428-116423428 |  |  |  | 0.001 | 40 | MET_rf | Hs00001374_rf
MET_703_mu | Hs00001338_mu | MET | 4233 | NM_000245 | 703 | c.3335A>G | p.H1112R | SUBSTITUTION | 7:116417464-116417464 |  |  |  | 0.001 | 37.8 | MET_rf | Hs00001374_rf
MET_706_mu | Hs00001339_mu | MET | 4233 | NM_000245 | 706 | c.504G>T | p.E168D | SUBSTITUTION | 7:116339642-116339642 |  |  |  | 0.001 | 40 | MET_rf | Hs00001374_rf
MET_707_mu | Hs00001340_mu | MET | 4233 | NM_000245 | 707 | c.3029C>T | p.T1010I | SUBSTITUTION | 7:116411990-116411990 |  |  |  | 0.001 | 39.5 | MET_rf | Hs00001374_rf
MET_710_mu | Hs00001341_mu | MET | 4233 | NM_000245 | 710 | c.1124A>G | p.N375S | SUBSTITUTION | 7:116340262-116340262 |  |  |  | 0.001 | 38.1 | MET_rf | Hs00001374_rf
MLH1_26085_mu | Hs00001033_mu | MLH1 | 4292 | NM_000249.2 | 26085 | c.1151T>A | p.V384D | SUBSTITUTION | 3:37067240-37067240 |  |  |  | 0.001 | 40 | MLH1_rf | Hs00001375_rf
MPL_18918_mu | Hs00000969_mu | MPL | 4352 | NM_005373.1 | 18918 | c.1544G>T | p.W515L | SUBSTITUTION | 1:43815009-43815009 |  |  |  | 0.001 | 40 | MPL_rf | Hs00001022_rf
MPL_19193_mu | Hs00000970_mu | MPL | 4352 | NM_005373.1 | 19193 | c.1543_1544TG>AA | p.W515K | COMPLEX | 1:43815008-43815009 |  |  |  | 0.001 | 40 | MPL_rf | Hs00001022_rf
NOTCH1_12771_mu | Hs00001209_mu | NOTCH1 | 4851 | NM_017617.2 | 12771 | c.4802T>C | p.L1601P | SUBSTITUTION | 9:139399344-139399344 |  |  |  | 0.001 | 37.6 | NOTCH1_rf | Hs00001376_rf
[NAME] | Hs00001210_mu | NOTCH1 | 4851 | NM_017617.2 | 12772 | c.4724T>C | p.L1575P | SUBSTITUTION | 9:139399422-139399422 |  |  |  | 0.001 | 38.8 | NOTCH1_rf | Hs00001376_rf |  |  | 24673(c.4724T>C, p.L1575P);
NOTCH1_12776_mu | Hs00001471_mu | NOTCH1 | 4851 | NM_017617.2 | 12776 | c.7378C>T | p.Q2460* | SUBSTITUTION | 9:139390816-139390816 |  |  |  | 0.001 | 39 | NOTCH1_rf | Hs00001376_rf
NOTCH1_13042_mu | Hs00001174_mu | NOTCH1 | 4851 | NM_017617.2 | 13042 | c.4781T>C | p.L1594P | SUBSTITUTION | 9:139399365-139399365 |  |  |  | 0.0025 | 40 | NOTCH1_rf | Hs00001376_rf
NOTCH1_13046_mu | Hs00001502_mu | NOTCH1 | 4851 | NM_017617.2 | 13046 | c.4757T>C | p.L1586P | SUBSTITUTION | 9:139399389-139399389 |  |  |  | 0.001 | 39 | NOTCH1_rf | Hs00001376_rf
NOTCH1_13048_mu | Hs00001479_mu | NOTCH1 | 4851 | NM_017617.2 | 13048 | c.5036T>C | p.L1679P | SUBSTITUTION | 9:139397768-139397768 |  |  |  | 0.001 | 39.9 | NOTCH1_rf | Hs00001376_rf
NOTCH1_13053_mu | Hs00001175_mu | NOTCH1 | 4851 | NM_017617.2 | 13053 | c.4796G>C | p.R1599P | SUBSTITUTION | 9:139399350-139399350 |  |  |  | 0.001 | 40 | NOTCH1_rf | Hs00001376_rf
NPM1_17559_mu | Hs00000953_mu | NPM1 | 4869 | [NAME] | 17559 | c.863_864insTCTG | p.W288fs*12 | INSERTION | 5:170837547-170837548 |  |  |  | 0.001 | 40 | NPM1_rf | Hs00001029_rf
NPM1_17571_mu | Hs00000954_mu | NPM1 | 4869 | [NAME] | 17571 | c.863_864insCATG | p.W288fs*12 | INSERTION | 5:170837547-170837548 |  |  |  | 0.001 | 40 | NPM1_rf | Hs00001029_rf
NPM1_17573_mu | Hs00000955_mu | NPM1 | 4869 | [NAME] | 17573 | c.863_864insCCTG | p.W288fs*12 | INSERTION | 5:170837547-170837548 |  |  |  | 0.001 | 40 | NPM1_rf | Hs00001029_rf
NRAS_12725_mu | [NAME] | NRAS | 4893 | NM_002524 | 12725 | c.181_182CA>TT | p.Q61L | COMPLEX | 1:115256529-115256530 |  |  |  | 0.001 | 40 | NRAS_rf | Hs00001023_rf
NRAS_12730_mu | Hs00001207_mu | NRAS | 4893 | NM_002524 | 12730 | [NAME] | p.Q61K | COMPLEX | 1:115256530-115256531 |  |  |  | 0.001 | 40 | NRAS_rf | Hs00001023_rf
NRAS_30646_mu | Hs00001047_mu | NRAS | 4893 | NM_002524 | 30646 | c.182_183AA>TG | p.Q61L | COMPLEX | 1:115256528-115256529 |  |  |  | 0.001 | 40 | NRAS_rf | Hs00001023_rf
NRAS_33693_mu | Hs00001049_mu | NRAS | 4893 | NM_002524 | 33693 | c.182_183AA>GG | p.Q61R | COMPLEX | 1:115256528-115256529 |  |  |  | 0.001 | 40 | NRAS_rf | Hs00001023_rf
NRAS_53223_mu | Hs00001520_mu | NRAS | 4893 | NM_002524 | 53223 | c.181_183CAA>AAG | p.Q61K | COMPLEX | 1:115256528-115256530 |  |  |  | 0.001 | 40 | NRAS_rf | Hs00001023_rf
NRAS_561_mu | Hs00000791_mu | NRAS | 4893 | NM_002524 | 561 | c.34G>C | p.G12R | SUBSTITUTION | 1:115258748-115258748 |  |  |  | 0.001 | 40 | NRAS_rf | Hs00001023_rf
NRAS_562_mu | Hs00000792_mu | NRAS | 4893 | NM_002524 | 562 | c.34G>T | p.G12C | SUBSTITUTION | 1:115258748-115258748 |  |  |  | 0.001 | 40 | NRAS_rf | Hs00001023_rf
NRAS_563_mu | Hs00000793_mu | NRAS | 4893 | NM_002524 | 563 | c.34G>A | p.G12S | SUBSTITUTION | 1:115258748-115258748 |  |  |  | 0.01 | 38.2 | NRAS_rf | Hs00001023_rf
NRAS_564_mu | Hs00000794_mu | NRAS | 4893 | NM_002524 | 564 | c.35G>A | p.G12D | SUBSTITUTION | 1:115258747-115258747 |  |  |  | 0.001 | 37 | NRAS_rf | Hs00001023_rf
NRAS_565_mu | Hs00000795_mu | NRAS | 4893 | NM_002524 | 565 | c.35G>C | p.G12A | SUBSTITUTION | 1:115258747-115258747 |  |  |  | 0.001 | 40 | NRAS_rf | Hs00001023_rf
NRAS_566_mu | [NAME] | NRAS | 4893 | NM_002524 | 566 | c.35G>T | p.G12V | SUBSTITUTION | 1:115258747-115258747 |  |  |  | 0.001 | 40 | NRAS_rf | Hs00001023_rf
NRAS_569_mu | Hs00000797_mu | NRAS | 4893 | NM_002524 | 569 | c.37G>C | p.G13R | SUBSTITUTION | 1:115258745-115258745 |  |  |  | 0.001 | 40 | NRAS_rf | Hs00001023_rf
NRAS_570_mu | Hs00000798_mu | NRAS | 4893 | NM_002524 | 570 | c.37G>T | p.G13C | SUBSTITUTION | 1:115258745-115258745 |  |  |  | 0.001 | 40 | NRAS_rf | Hs00001023_rf
NRAS_571_mu | Hs00000799_mu | NRAS | 4893 | NM_002524 | 571 | c.37G>A | p.G13S | SUBSTITUTION | 1:115258745-115258745 |  |  |  | 0.001 | 37.2 | NRAS_rf | Hs00001023_rf
NRAS_572_mu | Hs00001328_mu | NRAS | 4893 | NM_002524 | 572 | c.38_39GT>TC | [NAME] | COMPLEX | 1:115258743-115258744 |  |  |  | 0.001 | 40 | NRAS_rf | Hs00001023_rf
NRAS_573_mu | Hs00000800_mu | NRAS | 4893 | NM_002524 | 573 | c.38G>A | p.G13D | SUBSTITUTION | 1:115258744-115258744 |  |  |  | 0.001 | 38.7 | NRAS_rf | Hs00001023_rf
NRAS_574_mu | Hs00000801_mu | NRAS | 4893 | NM_002524 | 574 | c.38G>T | [NAME] | SUBSTITUTION | 1:115258744-115258744 |  |  |  | 0.001 | 40 | NRAS_rf | Hs00001023_rf
NRAS_575_mu | Hs00000802_mu | NRAS | 4893 | NM_002524 | 575 | c.38G>C | p.G13A | SUBSTITUTION | 1:115258744-115258744 |  |  |  | 0.001 | 40 | NRAS_rf | Hs00001023_rf
NRAS_577_mu | Hs00000803_mu | NRAS | 4893 | NM_002524 | 577 | c.52G>A | p.A18T | SUBSTITUTION | 1:115258730-115258730 |  |  |  | 0.0025 | 37.6 | NRAS_rf | Hs00001023_rf
[NAME] | Hs00001389_mu | NRAS | 4893 | NM_002524 | 579 | c.181_182CA>AG | p.Q61R | COMPLEX | 1:115256529-115256530 |  |  |  | 0.001 | 40 | NRAS_rf | Hs00001023_rf
NRAS_580_mu | Hs00000804_mu | NRAS | 4893 | NM_002524 | 580 | c.181C>A | p.Q61K | SUBSTITUTION | 1:115256530-115256530 |  |  |  | 0.001 | 39.7 | NRAS_rf | Hs00001023_rf |  |  | 53223(c.181_183CAA>AAG, p.Q61K);579(c.181_182CA>AG, p.Q61R);
NRAS_581_mu | Hs00000805_mu | NRAS | 4893 | NM_002524 | 581 | c.181C>G | p.Q61E | SUBSTITUTION | 1:115256530-115256530 |  |  |  | 0.001 | 40 | NRAS_rf | Hs00001023_rf
[NAME] | Hs00000806_mu | NRAS | 4893 | NM_002524 | 582 | c.182A>C | p.Q61P | SUBSTITUTION | 1:115256529-115256529 |  |  |  | 0.001 | 40 | NRAS_rf | Hs00001023_rf
NRAS_583_mu | Hs00000807_mu | NRAS | 4893 | NM_002524 | 583 | c.182A>T | p.Q61L | SUBSTITUTION | 1:115256529-115256529 |  |  |  | 0.001 | 36.7 | NRAS_rf | Hs00001023_rf |  |  | 12725(c.181_182CA>TT, p.Q61L);
NRAS_584_mu | Hs00000808_mu | NRAS | 4893 | NM_002524 | 584 | c.182A>G | p.Q61R | SUBSTITUTION | 1:115256529-115256529 |  |  |  | 0.0025 | 33.7 | NRAS_rf | Hs00001023_rf |  |  | 579(c.181_182CA>AG, p.Q61R);
NRAS_585_mu | Hs00000809_mu | NRAS | 4893 | NM_002524 | 585 | c.183A>T | p.Q61H | SUBSTITUTION | 1:115256528-115256528 |  |  |  | 0.001 | 40 | NRAS_rf | Hs00001023_rf
NRAS_586_mu | Hs00000810_mu | NRAS | 4893 | NM_002524 | 586 | c.183A>C | p.Q61H | SUBSTITUTION | 1:115256528-115256528 |  |  |  | 0.001 | 39.3 | NRAS_rf | Hs00001023_rf
PDGFRA_12396_mu | Hs00001227_mu | PDGFRA | 5156 | NM_006206 | 12396 | c.2524G>T | p.D842Y | SUBSTITUTION | 4:55152092-55152092 |  |  |  | 0.001 | 40 | PDGFRA_rf | Hs00001024_rf
PDGFRA_12397_mu | [NAME] | PDGFRA | 5156 | NM_006206 | 12397 | c.2524_2526GAC>TAT | p.D842Y | COMPLEX | 4:55152092-55152094 |  |  |  | 0.001 | 40 | PDGFRA_rf | Hs00001024_rf
PDGFRA_12398_mu | Hs00001394_mu | PDGFRA | 5156 | NM_006206 | 12398 | c.2524_2525GA>AT | p.D842I | COMPLEX | 4:55152092-55152093 |  |  |  | 0.001 | 40 | PDGFRA_rf | Hs00001024_rf
PDGFRA_12399_mu | Hs00001229_mu | PDGFRA | 5156 | NM_006206 | 12399 | c.2536G>T | p.D846Y | SUBSTITUTION | 4:55152104-55152104 |  |  |  | 0.001 | 40 | PDGFRA_rf | Hs00001024_rf
PDGFRA_12400_mu | Hs00001230_mu | PDGFRA | 5156 | NM_006206 | 12400 | c.2527_2538del12 | p.I843_D846del | DELETION | 4:55152095-55152106 |  |  |  | 0.001 | 40 | PDGFRA_rf | Hs00001024_rf
PDGFRA_12401_mu | Hs00001231_mu | PDGFRA | 5156 | NM_006206 | 12401 | c.2524_2532del9 | p.D842_M844del | DELETION | 4:55152092-55152100 |  |  |  | 0.001 | 40 | PDGFRA_rf | Hs00001024_rf
PDGFRA_12402_mu | Hs00001232_mu | PDGFRA | 5156 | NM_006206 | 12402 | c.2530_2541del12 | p.M844_S847del | DELETION | 4:55152098-55152109 |  |  |  | 0.001 | 40 | PDGFRA_rf | Hs00001024_rf
PDGFRA_12405_mu | Hs00001233_mu | PDGFRA | 5156 | NM_006206 | 12405 | c.2521_2526delAGAGAC | p.R841_D842del | DELETION | 4:55152089-55152094 |  |  |  | 0.001 | 40 | PDGFRA_rf | Hs00001024_rf
PDGFRA_12407_mu | Hs00001234_mu | PDGFRA | 5156 | NM_006206 | 12407 | c.2528_2539del12 | p.I843_S847>T | DELETION | 4:55152096-55152107 |  |  |  | 0.001 | 40 | PDGFRA_rf | Hs00001024_rf
PDGFRA_12408_mu | Hs00001235_mu | PDGFRA | 5156 | NM_006206 | 12408 | c.2526_2538>G | p.D842_D846>E | COMPLEX | 4:55152094-55152106 |  |  |  | 0.001 | 40 | PDGFRA_rf | Hs00001024_rf
PDGFRA_12411_mu | Hs00001236_mu | PDGFRA | 5156 | NM_006206 | 12411 | c.2524_2536>A | p.D842_D846>N | COMPLEX | 4:55152092-55152104 |  |  |  | 0.001 | 40 | PDGFRA_rf | Hs00001024_rf
PDGFRA_12412_mu | Hs00001185_mu | PDGFRA | 5156 | NM_006206 | 12412 | c.2525_2538>GA | p.D842_D846>G | COMPLEX | 4:55152093-55152106 |  |  |  | 0.001 | 40 | PDGFRA_rf | Hs00001024_rf
PDGFRA_12414_mu | Hs00001186_mu | PDGFRA | 5156 | NM_006206 | 12414 | c.2525_2535>TT | p.D842_H845>V | COMPLEX | 4:55152093-55152103 |  |  |  | 0.001 | 40 | PDGFRA_rf | Hs00001024_rf
PDGFRA_12415_mu | Hs00001187_mu | PDGFRA | 5156 | NM_006206 | 12415 | c.2526_2541>GGCC | p.D842_S847>EA | COMPLEX | 4:55152094-55152109 |  |  |  | 0.001 | 40 | PDGFRA_rf | Hs00001024_rf
[NAME] | Hs00001062_mu | PDGFRA | 5156 | NM_006206 | 21973 | c.1659_1664delGAGGTA | p.R554_Y555del | DELETION | 4:55141013-55141018 |  |  |  | 0.001 | 39.4 | PDGFRA_rf | Hs00001024_rf
PDGFRA_22416_mu | Hs00001065_mu | PDGFRA | 5156 | NM_006206 | 22416 | c.1975A>T | p.N659Y | SUBSTITUTION | 4:55144146-55144146 |  |  |  | 0.001 | 40 | PDGFRA_rf | Hs00001024_rf
PDGFRA_28053_mu | Hs00001569_mu | PDGFRA | 5156 | NM_006206 | 28053 | c.1694_1695insA | p.S566fs*6 | INSERTION | 4:55141048-55141049 |  |  |  | 0.001 | 40 | PDGFRA_rf | Hs00001024_rf
PDGFRA_736_mu | Hs00000818_mu | PDGFRA | 5156 | NM_006206 | 736 | c.2525A>T | p.D842V | SUBSTITUTION | 4:55152093-55152093 |  |  |  | 0.001 | 38.8 | PDGFRA_rf | Hs00001024_rf |  |  | 12398(c.2524_2525GA>AT, p.D842I);
PDGFRA_737_mu | Hs00001291_mu | PDGFRA | 5156 | NM_006206 | 737 | c.2524_2535del12 | p.D842_H845del | DELETION | 4:55152092-55152103 |  |  |  | 0.001 | 40 | PDGFRA_rf | Hs00001024_rf
PDGFRA_738_mu | Hs00001292_mu | PDGFRA | 5156 | NM_006206 | 738 | c.2534_2543ATGATTCGAA>C | p.H845_N848>P | COMPLEX | 4:55152102-55152111 |  |  |  | 0.001 | 40 | PDGFRA_rf | Hs00001024_rf
PDGFRA_739_mu | Hs00001293_mu | PDGFRA | 5156 | NM_006206 | 739 | c.1682T>A | p.V561D | SUBSTITUTION | 4:55141036-55141036 |  |  |  | 0.001 | 40 | PDGFRA_rf | Hs00001024_rf
PDGFRA_741_mu | Hs00001294_mu | PDGFRA | 5156 | NM_006206 | 741 | c.1678_1692del15 | p.R560_S564del | DELETION | 4:55141032-55141046 |  |  |  | 0.001 | 40 | PDGFRA_rf | Hs00001024_rf
PDGFRA_743_mu | Hs00001295_mu | PDGFRA | 5156 | NM_006206 | 743 | c.2021C>T | p.T674I | SUBSTITUTION | 4:55144547-55144547 |  |  |  | 0.001 | 36.3 | PDGFRA_rf | Hs00001024_rf
PIK3CA_12458_mu | Hs00000928_mu | PIK3CA | 5290 | NM_006218.1 | 12458 | c.1634A>C | p.E545A | SUBSTITUTION | 3:178936092-178936092 |  |  |  | 0.0025 | 36.5 | PIK3CA_rf | Hs00001025_rf
PIK3CA_12459_mu | Hs00000929_mu | PIK3CA | 5290 | NM_006218.1 | 12459 | c.1637A>G | p.Q546R | SUBSTITUTION | 3:178936095-178936095 |  |  |  | 0.0025 | 35.9 | PIK3CA_rf | Hs00001025_rf
PIK3CA_12461_mu | Hs00000930_mu | PIK3CA | 5290 | NM_006218.1 | 12461 | c.3062A>G | p.Y1021C | SUBSTITUTION | 3:178952007-178952007 |  |  |  | 0.0025 | 38.8 | PIK3CA_rf | Hs00001025_rf
PIK3CA_12464_mu | Hs00000931_mu | PIK3CA | 5290 | NM_006218.1 | 12464 | c.3204_3205insA | p.N1068fs*4 | INSERTION | 3:178952149-178952150 |  |  |  | 0.001 | 40 | PIK3CA_rf | Hs00001025_rf
PIK3CA_12580_mu | Hs00001466_mu | PIK3CA | 5290 | NM_006218.1 | 12580 | c.333G>C | p.K111N | SUBSTITUTION | 3:178916946-178916946 |  |  |  | 0.001 | 40 | PIK3CA_rf | Hs00001025_rf
PIK3CA_12591_mu | Hs00000938_mu | PIK3CA | 5290 | NM_006218.1 | 12591 | c.3127A>G | p.M1043V | SUBSTITUTION | 3:178952072-178952072 |  |  |  | 0.0025 | 33.9 | PIK3CA_rf | Hs00001025_rf
PIK3CA_12597_mu | Hs00000939_mu | PIK3CA | 5290 | NM_006218.1 | 12597 | c.3145G>C | p.G1049R | SUBSTITUTION | 3:178952090-178952090 |  |  |  | 0.001 | 40 | PIK3CA_rf | Hs00001025_rf
PIK3CA_13570_mu | Hs00001430_mu | PIK3CA | 5290 | NM_006218.1 | 13570 | c.331A>G | [NAME] | SUBSTITUTION | 3:178916944-178916944 |  |  |  | 0.001 | 36.2 | PIK3CA_rf | Hs00001025_rf
PIK3CA_13594_mu | Hs00001139_mu | PIK3CA | 5290 | NM_006218.1 | 13594 | c.3068G>A | p.R1023Q | SUBSTITUTION | 3:178952013-178952013 |  |  |  | 0.0025 | 40 | PIK3CA_rf | Hs00001025_rf
PIK3CA_17442_mu | Hs00000951_mu | PIK3CA | 5290 | NM_006218.1 | 17442 | c.1624G>C | p.E542Q | SUBSTITUTION | 3:178936082-178936082 |  |  |  | 0.001 | 40 | PIK3CA_rf | Hs00001025_rf
PIK3CA_17446_mu | Hs00001111_mu | PIK3CA | 5290 | NM_006218.1 | 17446 | c.3149G>A | p.G1050D | SUBSTITUTION | 3:178952094-178952094 |  |  |  | 0.001 | 38 | PIK3CA_rf | Hs00001025_rf
PIK3CA_17448_mu | Hs00001112_mu | PIK3CA | 5290 | NM_006218.1 | 17448 | c.3194A>T | p.H1065L | SUBSTITUTION | 3:178952139-178952139 |  |  |  | 0.001 | 40 | PIK3CA_rf | Hs00001025_rf
PIK3CA_21446_mu | Hs00001099_mu | PIK3CA | 5290 | NM_006218.1 | 21446 | c.3012G>T | p.M1004I | SUBSTITUTION | 3:178951957-178951957 |  |  |  | 0.001 | 40 | PIK3CA_rf | Hs00001025_rf
PIK3CA_24712_mu | Hs00001077_mu | PIK3CA | 5290 | NM_006218.1 | 24712 | c.1638G>T | p.Q546H | SUBSTITUTION | 3:178936096-178936096 |  |  |  | 0.001 | 40 | PIK3CA_rf | Hs00001025_rf
[NAME] | Hs00001078_mu | PIK3CA | 5290 | NM_006218.1 | 24714 | [NAME] | p.H1047Q | SUBSTITUTION | 3:178952086-178952086 |  |  |  | 0.001 | 36.8 | PIK3CA_rf | Hs00001025_rf
PIK3CA_25041_mu | Hs00000973_mu | PIK3CA | 5290 | NM_006218.1 | 25041 | c.1637A>T | p.Q546L | SUBSTITUTION | 3:178936095-178936095 |  |  |  | 0.001 | 39.5 | PIK3CA_rf | Hs00001025_rf
PIK3CA_27133_mu | Hs00000974_mu | PIK3CA | 5290 | NM_006218.1 | 27133 | c.1633G>C | p.E545Q | SUBSTITUTION | 3:178936091-178936091 |  |  |  | 0.0025 | 40 | PIK3CA_rf | Hs00001025_rf
PIK3CA_27155_mu | Hs00001564_mu | PIK3CA | 5290 | NM_006218.1 | 27155 | c.1634A>T | p.E545V | SUBSTITUTION | 3:178936092-178936092 |  |  |  | 0.01 | 36.7 | PIK3CA_rf | Hs00001025_rf
[NAME] | Hs00001034_mu | PIK3CA | 5290 | NM_006218.1 | 27158 | c.3146G>C | p.G1049A | SUBSTITUTION | 3:178952091-178952091 |  |  |  | 0.001 | 40 | PIK3CA_rf | Hs00001025_rf
PIK3CA_27374_mu | Hs00000975_mu | PIK3CA | 5290 | NM_006218.1 | 27374 | c.1635G>C | p.E545D | SUBSTITUTION | 3:178936093-178936093 |  |  |  | 0.001 | 40 | PIK3CA_rf | Hs00001025_rf
PIK3CA_27493_mu | Hs00001418_mu | PIK3CA | 5290 | NM_006218.1 | 27493 | c.277C>T | p.R93W | SUBSTITUTION | 3:178916890-178916890 |  |  |  | 0.0025 | 39 | PIK3CA_rf | Hs00001025_rf
PIK3CA_27497_mu | Hs00001037_mu | PIK3CA | 5290 | NM_006218.1 | 27497 | c.323G>A | p.R108H | SUBSTITUTION | 3:178916936-178916936 |  |  |  | 0.001 | 36.5 | PIK3CA_rf | Hs00001025_rf
PIK3CA_6147_mu | Hs00000883_mu | PIK3CA | 5290 | NM_006218.1 | 6147 | c.1636C>G | p.Q546E | SUBSTITUTION | 3:178936094-178936094 |  |  |  | 0.001 | 40 | PIK3CA_rf | Hs00001025_rf
PIK3CA_745_mu | Hs00001488_mu | PIK3CA | 5290 | NM_006218.1 | 745 | c.113G>A | p.R38H | SUBSTITUTION | 3:178916726-178916726 |  |  |  | 0.001 | 38 | PIK3CA_rf | Hs00001025_rf
PIK3CA_746_mu | Hs00000997_mu | PIK3CA | 5290 | NM_006218.1 | 746 | c.263G>A | p.R88Q | SUBSTITUTION | 3:178916876-178916876 |  |  |  | 0.0025 | 38.8 | PIK3CA_rf | Hs00001025_rf
PIK3CA_748_mu | Hs00001296_mu | PIK3CA | 5290 | NM_006218.1 | 748 | c.317G>T | p.G106V | SUBSTITUTION | 3:178916930-178916930 |  |  |  | 0.001 | 40 | PIK3CA_rf | Hs00001025_rf
PIK3CA_751_mu | Hs00001297_mu | PIK3CA | 5290 | NM_006218.1 | 751 | c.353G>A | p.G118D | SUBSTITUTION | 3:178917478-178917478 |  |  |  | 0.001 | 39.7 | PIK3CA_rf | Hs00001025_rf
PIK3CA_754_mu | Hs00000819_mu | PIK3CA | 5290 | NM_006218.1 | 754 | c.1035T>A | p.N345K | SUBSTITUTION | 3:178921553-178921553 |  |  |  | 0.01 | 40 | PIK3CA_rf | Hs00001025_rf
PIK3CA_757_mu | Hs00000820_mu | PIK3CA | 5290 | NM_006218.1 | 757 | c.1258T>C | p.C420R | SUBSTITUTION | 3:178927980-178927980 |  |  |  | 0.01 | 34.6 | PIK3CA_rf | Hs00001025_rf
PIK3CA_759_mu | Hs00000821_mu | PIK3CA | 5290 | NM_006218.1 | 759 | c.1616C>G | p.P539R | SUBSTITUTION | 3:178936074-178936074 |  |  |  | 0.001 | 40 | PIK3CA_rf | Hs00001025_rf
PIK3CA_760_mu | Hs00000822_mu | PIK3CA | 5290 | NM_006218.1 | 760 | c.1624G>A | p.E542K | SUBSTITUTION | 3:178936082-178936082 |  |  |  | 0.01 | 36.6 | PIK3CA_rf | Hs00001025_rf
PIK3CA_762_mu | Hs00000823_mu | PIK3CA | 5290 | NM_006218.1 | 762 | c.1625A>T | p.E542V | SUBSTITUTION | 3:178936083-178936083 |  |  |  | 0.001 | 40 | PIK3CA_rf | Hs00001025_rf
PIK3CA_763_mu | Hs00000824_mu | PIK3CA | 5290 | NM_006218.1 | 763 | c.1633G>A | p.E545K | SUBSTITUTION | 3:178936091-178936091 |  |  |  | 0.01 | 33.5 | PIK3CA_rf | Hs00001025_rf
PIK3CA_764_mu | Hs00000825_mu | PIK3CA | 5290 | NM_006218.1 | 764 | c.1634A>G | p.E545G | SUBSTITUTION | 3:178936092-178936092 |  |  |  | 0.001 | 38.4 | PIK3CA_rf | Hs00001025_rf
PIK3CA_765_mu | Hs00000826_mu | PIK3CA | 5290 | NM_006218.1 | 765 | c.1635G>T | p.E545D | SUBSTITUTION | 3:178936093-178936093 |  |  |  | 0.01 | 39 | PIK3CA_rf | Hs00001025_rf
PIK3CA_766_mu | Hs00000827_mu | PIK3CA | 5290 | NM_006218.1 | 766 | c.1636C>A | p.Q546K | SUBSTITUTION | 3:178936094-178936094 |  |  |  | 0.01 | 40 | PIK3CA_rf | Hs00001025_rf
PIK3CA_767_mu | Hs00000828_mu | PIK3CA | 5290 | NM_006218.1 | 767 | c.1637A>C | p.Q546P | SUBSTITUTION | 3:178936095-178936095 |  |  |  | 0.001 | 40 | PIK3CA_rf | Hs00001025_rf
PIK3CA_771_mu | Hs00000998_mu | PIK3CA | 5290 | NM_006218.1 | 771 | c.3073A>G | p.T1025A | SUBSTITUTION | 3:178952018-178952018 |  |  |  | 0.001 | 35 | PIK3CA_rf | Hs00001025_rf
PIK3CA_773_mu | Hs00000829_mu | PIK3CA | 5290 | NM_006218.1 | 773 | c.3129G>T | p.M1043I | SUBSTITUTION | 3:178952074-178952074 |  |  |  | 0.001 | 40 | PIK3CA_rf | Hs00001025_rf
PIK3CA_774_mu | Hs00000830_mu | PIK3CA | 5290 | NM_006218.1 | 774 | c.3139C>T | p.H1047Y | SUBSTITUTION | 3:178952084-178952084 |  |  |  | 0.001 | 38.8 | PIK3CA_rf | Hs00001025_rf
PIK3CA_775_mu | Hs00000831_mu | PIK3CA | 5290 | NM_006218.1 | 775 | c.3140A>G | p.H1047R | SUBSTITUTION | 3:178952085-178952085 |  |  |  | 0.001 | 38.8 | PIK3CA_rf | Hs00001025_rf
PIK3CA_776_mu | Hs00000832_mu | PIK3CA | 5290 | NM_006218.1 | 776 | c.3140A>T | p.H1047L | SUBSTITUTION | 3:178952085-178952085 |  |  |  | 0.001 | 40 | PIK3CA_rf | Hs00001025_rf
PIK3CA_777_mu | Hs00000833_mu | PIK3CA | 5290 | NM_006218.1 | 777 | c.3145G>A | p.G1049S | SUBSTITUTION | 3:178952090-178952090 |  |  |  | 0.001 | 36.9 | PIK3CA_rf | Hs00001025_rf
PIK3CA_778_mu | Hs00000834_mu | PIK3CA | 5290 | NM_006218.1 | 778 | c.2102A>C | p.H701P | SUBSTITUTION | 3:178938860-178938860 |  |  |  | 0.001 | 39.2 | PIK3CA_rf | Hs00001025_rf
PTEN_43098_mu | Hs00001582_mu | PTEN | 5728 | NM_000314.4 | 43098 | [NAME] | p.N323fs*21 | DELETION | 10:89720818-89720818 |  |  |  | 0.001 | 40 | PTEN_rf | Hs00001026_rf
PTEN_4929_mu | Hs00001250_mu | PTEN | 5728 | NM_000314.4 | 4929 | c.17_18delAA | p.K6fs*4 | DELETION | 10:89624243-89624244 |  |  |  | 0.001 | 40 | PTEN_rf | Hs00001026_rf |  |  | 4937(c.16_17delAA, p.K6fs*4);
[NAME] | Hs00000855_mu | PTEN | 5728 | NM_000314.4 | 4958 | c.955_958delACTT | p.T319fs*1 | DELETION | 10:89720804-89720807 |  |  |  | 0.001 | 40 | PTEN_rf | Hs00001026_rf |  |  | 4903(c.954_957delTACT, p.L318fs*2);4894(c.952_955delCTTA, p.L318fs*2);4898(c.950_953delTACT, p.V317fs*3);
PTEN_4986_mu | Hs00001252_mu | PTEN | 5728 | NM_000314.4 | 4986 | c.741_742insA | p.P248fs*5 | INSERTION | 10:89717716-89717717 |  |  |  | 0.001 | 40 | PTEN_rf | Hs00001026_rf
PTEN_4990_mu | Hs00000856_mu | PTEN | 5728 | NM_000314.4 | 4990 | c.968_969insA | p.N323fs*2 | INSERTION | 10:89720817-89720818 |  |  |  | 0.001 | 38 | PTEN_rf | Hs00001026_rf |  |  | 4994(c.963_964insA, p.T321fs*3);23626(c.962_963insA, p.N323fs*2);
PTEN_5025_mu | Hs00001253_mu | PTEN | 5728 | NM_000314.4 | 5025 | c.742_743insC | p.P248fs*5 | INSERTION | 10:89717717-89717718 |  |  |  | 0.001 | 40 | PTEN_rf | Hs00001026_rf
PTEN_5026_mu | Hs00001254_mu | PTEN | 5728 | NM_000314.4 | 5026 | c.742_743insA | p.P248fs*5 | INSERTION | 10:89717717-89717718 |  |  |  | 0.001 | 40 | PTEN_rf | Hs00001026_rf
PTEN_5033_mu | [NAME] | PTEN | 5728 | NM_000314.4 | 5033 | c.389G>A | p.R130Q | SUBSTITUTION | 10:89692905-89692905 |  |  |  | 0.001 | 39.8 | PTEN_rf | Hs00001026_rf |  |  | 5817(c.389delG, p.R130fs*4);
PTEN_5036_mu | Hs00001504_mu | PTEN | 5728 | NM_000314.4 | 5036 | c.202T>C | p.Y68H | SUBSTITUTION | 10:89685307-89685307 |  |  |  | 0.001 | 37.6 | PTEN_rf | Hs00001026_rf
PTEN_5039_mu | Hs00000858_mu | PTEN | 5728 | NM_000314.4 | 5039 | c.518G>A | p.R173H | SUBSTITUTION | 10:89711900-89711900 |  |  |  | 0.001 | 35 | PTEN_rf | Hs00001026_rf
PTEN_5089_mu | Hs00000859_mu | PTEN | 5728 | NM_000314.4 | 5089 | c.517C>T | p.R173C | SUBSTITUTION | 10:89711899-89711899 |  |  |  | 0.001 | 36 | PTEN_rf | Hs00001026_rf
PTEN_5149_mu | Hs00001255_mu | PTEN | 5728 | NM_000314.4 | 5149 | c.511C>T | p.Q171* | SUBSTITUTION | 10:89711893-89711893 |  |  |  | 0.001 | 38.5 | PTEN_rf | Hs00001026_rf
PTEN_5150_mu | Hs00001453_mu | PTEN | 5728 | NM_000314.4 | 5150 | c.640C>T | p.Q214* | SUBSTITUTION | 10:89717615-89717615 |  |  |  | 0.001 | 37.5 | PTEN_rf | Hs00001026_rf
PTEN_5151_mu | Hs00000999_mu | PTEN | 5728 | NM_000314.4 | 5151 | c.1003C>T | p.R335* | SUBSTITUTION | 10:89720852-89720852 |  |  |  | 0.0025 | 39.1 | PTEN_rf | Hs00001026_rf
PTEN_5152_mu | Hs00000860_mu | PTEN | 5728 | NM_000314.4 | 5152 | c.388C>T | p.R130* | SUBSTITUTION | 10:89692904-89692904 |  |  |  | 0.001 | 39.1 | PTEN_rf | Hs00001026_rf
PTEN_5154_mu | Hs00000861_mu | PTEN | 5728 | NM_000314.4 | 5154 | c.697C>T | p.R233* | SUBSTITUTION | 10:89717672-89717672 |  |  |  | 0.01 | 38 | PTEN_rf | Hs00001026_rf
PTEN_5216_mu | Hs00001256_mu | PTEN | 5728 | NM_000314.4 | 5216 | c.389G>T | p.R130L | SUBSTITUTION | 10:89692905-89692905 |  |  |  | 0.001 | 39.5 | PTEN_rf | Hs00001026_rf
PTEN_5219_mu | Hs00000862_mu | PTEN | 5728 | NM_000314.4 | 5219 | c.388C>G | p.R130G | SUBSTITUTION | 10:89692904-89692904 |  |  |  | 0.001 | 40 | PTEN_rf | Hs00001026_rf
[NAME] | Hs00001567_mu | PTEN | 5728 | NM_000314.4 | 5775 | c.1002_1003CC>TT | p.R335* | COMPLEX | 10:89720851-89720852 |  |  |  | 0.0025 | 40 | PTEN_rf | Hs00001026_rf
PTEN_5801_mu | Hs00000882_mu | PTEN | 5728 | NM_000314.4 | 5801 | [NAME] | p.N323fs*21 | DELETION | 10:89720817-89720817 |  |  |  | 0.01 | 36.4 | PTEN_rf | Hs00001026_rf |  |  | 53243(c.964_964delA, p.N323fs*21);5823(c.963delA, p.T321fs*23);
PTEN_5809_mu | Hs00000995_mu | PTEN | 5728 | NM_000314.4 | 5809 | [NAME] | p.K267fs*9 | DELETION | 10:89717775-89717775 |  |  |  | 0.01 | 34.1 | PTEN_rf | Hs00001026_rf |  |  | 5862(c.799delA, p.K267fs*9);87314(c.797_797delA, p.K267fs*9);30622(c.795delA, p.K267fs*9);
PTEN_5816_mu | Hs00001457_mu | PTEN | 5728 | NM_000314.4 | 5816 | c.867delA | p.V290fs*1 | DELETION | 10:89720716-89720716 |  |  |  | 0.001 | 37 | PTEN_rf | Hs00001026_rf
PTEN_5817_mu | Hs00001391_mu | PTEN | 5728 | NM_000314.4 | 5817 | c.389delG | p.R130fs*4 | DELETION | 10:89692905-89692905 |  |  |  | 0.001 | 38.9 | PTEN_rf | Hs00001026_rf
PTEN_5888_mu | Hs00001213_mu | PTEN | 5728 | NM_000314.4 | 5888 | c.723_724insTT | p.E242fs*15 | INSERTION | 10:89717698-89717699 |  |  |  | 0.001 | 40 | PTEN_rf | Hs00001026_rf
PTPN11_13000_mu | Hs00001524_mu | PTPN11 | 5781 | NM_002834.3 | 13000 | c.226G>A | p.E76K | SUBSTITUTION | 12:112888210-112888210 |  |  |  | 0.001 | 38.6 | PTPN11_rf | Hs00001377_rf
PTPN11_13011_mu | Hs00001525_mu | PTPN11 | 5781 | NM_002834.3 | 13011 | c.181G>T | p.D61Y | SUBSTITUTION | 12:112888165-112888165 |  |  |  | 0.001 | 40 | PTPN11_rf | Hs00001377_rf
PTPN11_13013_mu | Hs00001526_mu | PTPN11 | 5781 | NM_002834.3 | 13013 | c.205G>A | p.E69K | SUBSTITUTION | 12:112888189-112888189 |  |  |  | 0.001 | 36.9 | PTPN11_rf | Hs00001377_rf
PTPN11_13014_mu | Hs00001167_mu | PTPN11 | 5781 | NM_002834.3 | 13014 | c.214G>A | p.A72T | SUBSTITUTION | 12:112888198-112888198 |  |  |  | 0.001 | 38.1 | PTPN11_rf | Hs00001377_rf
PTPN11_13016_mu | Hs00001168_mu | PTPN11 | 5781 | NM_002834.3 | 13016 | c.226G>C | p.E76Q | SUBSTITUTION | 12:112888210-112888210 |  |  |  | 0.001 | 39.9 | PTPN11_rf | Hs00001377_rf
PTPN11_13017_mu | Hs00001527_mu | PTPN11 | 5781 | NM_002834.3 | 13017 | c.227A>G | p.E76G | SUBSTITUTION | 12:112888211-112888211 |  |  |  | 0.0025 | 36.3 | PTPN11_rf | Hs00001377_rf
PTPN11_13019_mu | Hs00001169_mu | PTPN11 | 5781 | NM_002834.3 | 13019 | c.218C>T | p.T73I | SUBSTITUTION | 12:112888202-112888202 |  |  |  | 0.001 | 39.8 | PTPN11_rf | Hs00001377_rf
PTPN11_13020_mu | Hs00001170_mu | PTPN11 | 5781 | NM_002834.3 | 13020 | c.1504T>C | p.S502P | SUBSTITUTION | 12:112926884-112926884 |  |  |  | 0.001 | 37.8 | PTPN11_rf | Hs00001377_rf
[NAME] | Hs00001528_mu | PTPN11 | 5781 | NM_002834.3 | 13022 | c.182A>T | p.D61V | SUBSTITUTION | 12:112888166-112888166 |  |  |  | 0.001 | 39.8 | PTPN11_rf | Hs00001377_rf
PTPN11_13025_mu | [NAME] | PTPN11 | 5781 | NM_002834.3 | 13025 | c.227A>T | p.E76V | SUBSTITUTION | 12:112888211-112888211 |  |  |  | 0.001 | 36.9 | PTPN11_rf | Hs00001377_rf
PTPN11_13026_mu | Hs00001529_mu | PTPN11 | 5781 | NM_002834.3 | 13026 | c.227A>C | p.E76A | SUBSTITUTION | 12:112888211-112888211 |  |  |  | 0.001 | 37.6 | PTPN11_rf | Hs00001377_rf
PTPN11_13027_mu | Hs00001172_mu | PTPN11 | 5781 | NM_002834.3 | 13027 | c.1508G>C | p.G503A | SUBSTITUTION | 12:112926888-112926888 |  |  |  | 0.001 | 40 | PTPN11_rf | Hs00001377_rf
PTPN11_13028_mu | Hs00001530_mu | PTPN11 | 5781 | NM_002834.3 | 13028 | c.179G>T | p.G60V | SUBSTITUTION | 12:112888163-112888163 |  |  |  | 0.001 | 40 | PTPN11_rf | Hs00001377_rf
PTPN11_13035_mu | Hs00001173_mu | PTPN11 | 5781 | NM_002834.3 | 13035 | c.215C>A | p.A72D | SUBSTITUTION | 12:112888199-112888199 |  |  |  | 0.001 | 40 | PTPN11_rf | Hs00001377_rf
PTPN11_14271_mu | Hs00001158_mu | PTPN11 | 5781 | NM_002834.3 | 14271 | c.1508G>T | p.G503V | SUBSTITUTION | 12:112926888-112926888 |  |  |  | 0.001 | 40 | PTPN11_rf | Hs00001377_rf
RB1_868_mu | Hs00001424_mu | RB1 | 5925 | NM_000321 | 868 | c.2242G>T | p.E748* | SUBSTITUTION | 13:49039164-49039164 |  |  |  | 0.0025 | 40 | RB1_rf | Hs00001378_rf
RB1_869_mu | Hs00001302_mu | RB1 | 5925 | NM_000321 | 869 | c.1980_1983delCCGG | p.L660fs*2 | DELETION | 13:49033843-49033846 |  |  |  | 0.001 | 40 | RB1_rf | Hs00001378_rf
RB1_879_mu | Hs00001303_mu | RB1 | 5925 | NM_000321 | 879 | c.1072C>T | p.R358* | SUBSTITUTION | 13:48942685-48942685 |  |  |  | 0.001 | 38.3 | RB1_rf | Hs00001378_rf
RB1_883_mu | Hs00001490_mu | RB1 | 5925 | NM_000321 | 883 | c.2117G>T | p.C706F | SUBSTITUTION | 13:49037877-49037877 |  |  |  | 0.001 | 40 | RB1_rf | Hs00001378_rf
RB1_887_mu | Hs00001491_mu | RB1 | 5925 | NM_000321 | 887 | c.1654C>T | p.R552* | SUBSTITUTION | 13:48955538-48955538 |  |  |  | 0.001 | 37.7 | RB1_rf | Hs00001378_rf
RB1_888_mu | Hs00001304_mu | RB1 | 5925 | NM_000321 | 888 | c.1666C>T | p.R556* | SUBSTITUTION | 13:48955550-48955550 |  |  |  | 0.001 | 36.5 | RB1_rf | Hs00001378_rf
RB1_890_mu | Hs00001305_mu | RB1 | 5925 | NM_000321 | 890 | c.409G>T | p.E137* | SUBSTITUTION | 13:48919244-48919244 |  |  |  | 0.001 | 40 | RB1_rf | Hs00001378_rf
RB1_891_mu | Hs00001306_mu | RB1 | 5925 | NM_000321 | 891 | c.958C>T | p.R320* | SUBSTITUTION | 13:48941648-48941648 |  |  |  | 0.001 | 37.1 | RB1_rf | Hs00001378_rf
RB1_892_mu | Hs00001307_mu | RB1 | 5925 | NM_000321 | 892 | c.1735C>T | p.R579* | SUBSTITUTION | 13:49027168-49027168 |  |  |  | 0.0025 | 38.5 | RB1_rf | Hs00001378_rf
RB1_895_mu | Hs00001568_mu | RB1 | 5925 | NM_000321 | 895 | c.1363C>T | p.R455* | SUBSTITUTION | 13:48953760-48953760 |  |  |  | 0.01 | 36.7 | RB1_rf | Hs00001378_rf
RB1_915_mu | Hs00001492_mu | RB1 | 5925 | NM_000321 | 915 | c.596T>A | p.L199* | SUBSTITUTION | 13:48923148-48923148 |  |  |  | 0.001 | 39.6 | RB1_rf | Hs00001378_rf
[NAME] | Hs00001277_mu | RET | 5979 | NM_020975 | 1049 | c.1895_1918>TGCGGC | p.E632_A640>VRP | COMPLEX | 10:43609943-43609966 |  |  |  | 0.001 | 40 | RET_rf | Hs00001379_rf
RET_21338_mu | Hs00001095_mu | RET | 5979 | NM_020975 | 21338 | c.2304G>C | p.E768D | SUBSTITUTION | 10:43613840-43613840 |  |  |  | 0.001 | 40 | RET_rf | Hs00001379_rf
RET_962_mu | Hs00001315_mu | RET | 5979 | NM_020975 | 962 | c.2694_2705del12 | p.D898_E901del | DELETION | 10:43615615-43615626 |  |  |  | 0.001 | 40 | RET_rf | Hs00001379_rf |  |  | 985(c.2692_2703del12, p.D898_E901del);
RET_965_mu | Hs00001493_mu | RET | 5979 | NM_020975 | 965 | c.2753T>C | p.M918T | SUBSTITUTION | 10:43617416-43617416 |  |  |  | 0.001 | 39.9 | RET_rf | Hs00001379_rf
RET_966_mu | Hs00001285_mu | RET | 5979 | NM_020975 | 966 | c.1900T>C | p.C634R | SUBSTITUTION | 10:43609948-43609948 |  |  |  | 0.001 | 37.8 | RET_rf | Hs00001379_rf
RET_968_mu | Hs00001263_mu | RET | 5979 | NM_020975 | 968 | c.1894_1899delGAGCTG | p.E632_L633del | DELETION | 10:43609942-43609947 |  |  |  | 0.001 | 40 | RET_rf | Hs00001379_rf
RET_974_mu | Hs00001264_mu | RET | 5979 | NM_020975 | 974 | c.1901G>A | p.C634Y | SUBSTITUTION | 10:43609949-43609949 |  |  |  | 0.001 | 36.2 | RET_rf | Hs00001379_rf
RET_975_mu | Hs00001265_mu | RET | 5979 | NM_020975 | 975 | c.1902C>G | p.C634W | SUBSTITUTION | 10:43609950-43609950 |  |  |  | 0.001 | 40 | RET_rf | Hs00001379_rf
RET_977_mu | Hs00001266_mu | RET | 5979 | NM_020975 | 977 | c.2647_2648GC>TT | p.A883F | COMPLEX | 10:43615568-43615569 |  |  |  | 0.001 | 40 | RET_rf | Hs00001379_rf |  |  | 981(c.2646_2648AGC>TTT, p.A883F);
RET_978_mu | Hs00001267_mu | RET | 5979 | NM_020975 | 978 | [NAME] | p.D631G | SUBSTITUTION | 10:43609940-43609940 |  |  |  | 0.001 | 37.5 | RET_rf | Hs00001379_rf
RET_981_mu | Hs00001390_mu | RET | 5979 | NM_020975 | 981 | c.2646_2648AGC>TTT | p.A883F | COMPLEX | 10:43615567-43615569 |  |  |  | 0.001 | 40 | RET_rf | Hs00001379_rf
RET_982_mu | Hs00001269_mu | RET | 5979 | NM_020975 | 982 | [NAME] | p.E632_L633>V | DELETION | 10:43609943-43609945 |  |  |  | 0.001 | 40 | RET_rf | Hs00001379_rf
RET_983_mu | Hs00001270_mu | RET | 5979 | NM_020975 | 983 | c.1893_1898delCGAGCT | p.D631_L633>E | DELETION | 10:43609941-43609946 |  |  |  | 0.001 | 40 | RET_rf | Hs00001379_rf
RET_984_mu | Hs00001271_mu | RET | 5979 | NM_020975 | 984 | c.1834_1860del27 | p.F612_C620del | DELETION | 10:43609078-43609104 |  |  |  | 0.001 | 40 | RET_rf | Hs00001379_rf
SMAD4_13115_mu | Hs00001176_mu | [NAME] | 4089 | NM_005359.3 | 13115 | c.431C>G | p.S144* | SUBSTITUTION | 18:48575671-48575671 |  |  |  | 0.001 | 40 | SMAD4_rf | Hs00001380_rf
SMAD4_14057_mu | Hs00001141_mu | [NAME] | 4089 | NM_005359.3 | 14057 | c.733C>T | p.Q245* | SUBSTITUTION | 18:48584560-48584560 |  |  |  | 0.001 | 36.1 | SMAD4_rf | Hs00001380_rf
SMAD4_14096_mu | Hs00001566_mu | [NAME] | 4089 | NM_005359.3 | 14096 | c.1333C>T | p.R445* | SUBSTITUTION | 18:48603032-48603032 |  |  |  | 0.001 | 38.1 | SMAD4_rf | Hs00001380_rf
SMAD4_14105_mu | Hs00001431_mu | [NAME] | 4089 | NM_005359.3 | 14105 | c.1394_1395insT | p.A466fs*28 | INSERTION | 18:48603093-48603094 |  |  |  | 0.001 | 40 | SMAD4_rf | Hs00001380_rf
SMAD4_14110_mu | Hs00001145_mu | [NAME] | 4089 | NM_005359.3 | 14110 | c.989A>C | p.E330A | SUBSTITUTION | 18:48591826-48591826 |  |  |  | 0.001 | 40 | SMAD4_rf | Hs00001380_rf
SMAD4_14111_mu | Hs00001146_mu | [NAME] | 4089 | NM_005359.3 | 14111 | c.1028C>G | p.S343* | SUBSTITUTION | 18:48591865-48591865 |  |  |  | 0.001 | 40 | SMAD4_rf | Hs00001380_rf
SMAD4_14113_mu | Hs00001147_mu | [NAME] | 4089 | NM_005359.3 | 14113 | c.1490G>A | p.R497H | SUBSTITUTION | 18:48604668-48604668 |  |  |  | 0.0025 | 36.5 | SMAD4_rf | Hs00001380_rf
SMAD4_14115_mu | Hs00001148_mu | [NAME] | 4089 | NM_005359.3 | 14115 | c.1569C>G | p.C523W | SUBSTITUTION | 18:48604747-48604747 |  |  |  | 0.001 | 40 | SMAD4_rf | Hs00001380_rf
SMAD4_14118_mu | [NAME] | [NAME] | 4089 | NM_005359.3 | 14118 | c.502G>T | p.G168* | SUBSTITUTION | 18:48581198-48581198 |  |  |  | 0.001 | 40 | SMAD4_rf | Hs00001380_rf
SMAD4_14121_mu | Hs00001149_mu | [NAME] | 4089 | NM_005359.3 | 14121 | c.1015_1029del15 | p.F339_S343del | DELETION | 18:48591852-48591866 |  |  |  | 0.001 | 40 | SMAD4_rf | Hs00001380_rf
SMAD4_14122_mu | Hs00001433_mu | [NAME] | 4089 | NM_005359.3 | 14122 | c.1082G>A | p.R361H | SUBSTITUTION | 18:48591919-48591919 |  |  |  | 0.01 | 37.8 | SMAD4_rf | Hs00001380_rf
SMAD4_14124_mu | Hs00001434_mu | [NAME] | 4089 | NM_005359.3 | 14124 | c.1341_1365del25 | p.Q448fs*20 | DELETION | 18:48603040-48603064 |  |  |  | 0.001 | 40 | SMAD4_rf | Hs00001380_rf
SMAD4_14129_mu | Hs00001150_mu | [NAME] | 4089 | NM_005359.3 | 14129 | [NAME] | p.R515* | SUBSTITUTION | 18:48604721-48604721 |  |  |  | 0.001 | 40 | SMAD4_rf | Hs00001380_rf
SMAD4_14134_mu | Hs00001151_mu | [NAME] | 4089 | NM_005359.3 | 14134 | c.1576G>T | p.E526* | SUBSTITUTION | 18:48604754-48604754 |  |  |  | 0.001 | 40 | SMAD4_rf | Hs00001380_rf
SMAD4_14135_mu | Hs00001152_mu | [NAME] | 4089 | NM_005359.3 | 14135 | c.1051G>C | p.D351H | SUBSTITUTION | 18:48591888-48591888 |  |  |  | 0.001 | 40 | SMAD4_rf | Hs00001380_rf
SMAD4_14163_mu | Hs00001435_mu | [NAME] | 4089 | NM_005359.3 | 14163 | c.931C>T | p.Q311* | SUBSTITUTION | 18:48586262-48586262 |  |  |  | 0.001 | 39.7 | SMAD4_rf | Hs00001380_rf
SMAD4_14174_mu | Hs00001436_mu | [NAME] | 4089 | NM_005359.3 | 14174 | c.1072G>T | p.G358* | SUBSTITUTION | 18:48591909-48591909 |  |  |  | 0.001 | 40 | SMAD4_rf | Hs00001380_rf
SMAD4_14177_mu | Hs00001153_mu | [NAME] | 4089 | NM_005359.3 | 14177 | c.1546_1553delCAGAGCAT | p.S517fs*7 | DELETION | 18:48604724-48604731 |  |  |  | 0.001 | 40 | SMAD4_rf | Hs00001380_rf
SMAD4_14216_mu | Hs00001156_mu | [NAME] | 4089 | NM_005359.3 | 14216 | c.363_364insA | p.C123fs*2 | INSERTION | 18:48575169-48575170 |  |  |  | 0.001 | 38.9 | SMAD4_rf | Hs00001380_rf
SMAD4_14249_mu | Hs00001157_mu | [NAME] | 4089 | NM_005359.3 | 14249 | c.1156G>C | p.G386R | SUBSTITUTION | 18:48593405-48593405 |  |  |  | 0.0025 | 40 | SMAD4_rf | Hs00001380_rf
SMARCB1_1002_mu | Hs00001276_mu | SMARCB1 | 6598 | NM_003073.2 | 1002 | c.118C>T | p.R40* | SUBSTITUTION | 22:24133967-24133967 |  |  |  | 0.01 | 36.9 | SMARCB1_rf | Hs00001381_rf
SMARCB1_1057_mu | Hs00001278_mu | SMARCB1 | 6598 | NM_003073.2 | 1057 | c.1148delC | p.P383fs | DELETION | 22:24176357-24176357 |  |  |  | 0.001 | 36.3 | SMARCB1_rf | Hs00001381_rf
SMARCB1_29382_mu | [NAME] | SMARCB1 | 6598 | NM_003073.2 | 29382 | c.1143delG | p.A382fs*5 | DELETION | 22:24176352-24176352 |  |  |  | 0.001 | 36.9 | SMARCB1_rf | Hs00001381_rf
SMARCB1_991_mu | Hs00001273_mu | SMARCB1 | 6598 | NM_003073.2 | 991 | c.141C>A | p.Y47* | SUBSTITUTION | 22:24133990-24133990 |  |  |  | 0.001 | 39.8 | SMARCB1_rf | Hs00001381_rf
SMARCB1_992_mu | Hs00001274_mu | SMARCB1 | 6598 | NM_003073.2 | 992 | c.472C>T | p.R158* | SUBSTITUTION | 22:24143240-24143240 |  |  |  | 0.001 | 37 | SMARCB1_rf | Hs00001381_rf
SMARCB1_993_mu | Hs00001275_mu | SMARCB1 | 6598 | NM_003073.2 | 993 | c.601C>T | p.R201* | SUBSTITUTION | 22:24145582-24145582 |  |  |  | 0.001 | 36.1 | SMARCB1_rf | Hs00001381_rf
SMO_13145_mu | Hs00001480_mu | SMO | 6608 | NM_005631.3 | 13145 | c.595C>T | p.R199W | SUBSTITUTION | 7:128845101-128845101 |  |  |  | 0.001 | 37.7 | SMO_rf | Hs00001382_rf
SMO_13146_mu | Hs00001177_mu | SMO | 6608 | NM_005631.3 | 13146 | c.1604G>T | p.W535L | SUBSTITUTION | 7:128850341-128850341 |  |  |  | 0.001 | 40 | SMO_rf | Hs00001382_rf
SMO_13147_mu | Hs00001472_mu | SMO | 6608 | NM_005631.3 | 13147 | c.970G>A | p.A324T | SUBSTITUTION | 7:128846040-128846040 |  |  |  | 0.001 | 38.1 | SMO_rf | Hs00001382_rf
SMO_13148_mu | Hs00001473_mu | SMO | 6608 | NM_005631.3 | 13148 | c.1210G>A | p.V404M | SUBSTITUTION | 7:128846374-128846374 |  |  |  | 0.001 | 39 | SMO_rf | Hs00001382_rf
[NAME] | Hs00001474_mu | SMO | 6608 | NM_005631.3 | 13150 | c.1918A>G | p.T640A | SUBSTITUTION | 7:128851593-128851593 |  |  |  | 0.001 | 38.3 | SMO_rf | Hs00001382_rf
SRC_1369_mu | Hs00001503_mu | SRC | 6714 | NM_005417 | 1369 | c.1591C>T | p.Q531* | SUBSTITUTION | 20:36031762-36031762 |  |  |  | 0.001 | 37.3 | SRC_rf | Hs00001584_rf
STK11_12925_mu | Hs00001163_mu | STK11 | 6794 | NM_000455 | 12925 | c.109C>T | p.Q37* | SUBSTITUTION | 19:1207021-1207021 |  |  |  | 0.001 | 40 | STK11_rf | Hs00001383_rf
STK11_18652_mu | Hs00001442_mu | STK11 | 6794 | NM_000455 | 18652 | c.996G>A | p.W332* | SUBSTITUTION | 19:1223059-1223059 |  |  |  | 0.001 | 39.6 | STK11_rf | Hs00001383_rf
STK11_20857_mu | Hs00001091_mu | STK11 | 6794 | NM_000455 | 20857 | c.787_790delTTGT | p.F264fs*22 | DELETION | 19:1221264-1221267 |  |  |  | 0.001 | 40 | STK11_rf | Hs00001383_rf
STK11_20871_mu | Hs00001404_mu | STK11 | 6794 | NM_000455 | 20871 | c.837delC | p.P281fs*6 | DELETION | 19:1221314-1221314 |  |  |  | 0.0025 | 37.9 | STK11_rf | Hs00001383_rf |  |  | 12924(c.842delC, p.P281fs*6);
STK11_20874_mu | Hs00001092_mu | STK11 | 6794 | NM_000455 | 20874 | c.180C>G | p.Y60* | SUBSTITUTION | 19:1207092-1207092 |  |  |  | 0.001 | 40 | STK11_rf | Hs00001383_rf |  |  | 27322(c.180delC, p.Y60fs*1);
STK11_20943_mu | Hs00001405_mu | STK11 | 6794 | NM_000455 | 20943 | c.508C>T | p.Q170* | SUBSTITUTION | 19:1220415-1220415 |  |  |  | 0.001 | 39.5 | STK11_rf | Hs00001383_rf
STK11_20957_mu | Hs00001093_mu | STK11 | 6794 | NM_000455 | 20957 | c.581A>T | p.D194V | SUBSTITUTION | 19:1220488-1220488 |  |  |  | 0.001 | 40 | STK11_rf | Hs00001383_rf
STK11_21212_mu | Hs00001406_mu | STK11 | 6794 | NM_000455 | 21212 | c.169delG | p.E57fs*7 | DELETION | 19:1207077-1207077 |  |  |  | 0.001 | 40 | STK11_rf | Hs00001383_rf
STK11_21355_mu | Hs00001096_mu | STK11 | 6794 | NM_000455 | 21355 | c.842C>T | p.P281L | SUBSTITUTION | 19:1221319-1221319 |  |  |  | 0.001 | 37.3 | STK11_rf | Hs00001383_rf |  |  | 28298(c.841_842>T, p.P281fs*6);
STK11_21359_mu | Hs00001097_mu | STK11 | 6794 | NM_000455 | 21359 | c.595G>A | p.E199K | SUBSTITUTION | 19:1220502-1220502 |  |  |  | 0.001 | 39.8 | STK11_rf | Hs00001383_rf
STK11_21360_mu | Hs00001098_mu | STK11 | 6794 | NM_000455 | 21360 | c.1062C>G | p.F354L | SUBSTITUTION | 19:1223125-1223125 |  |  |  | 0.001 | 40 | STK11_rf | Hs00001383_rf
STK11_25229_mu | Hs00001052_mu | STK11 | 6794 | NM_000455 | 25229 | c.595G>T | p.E199* | SUBSTITUTION | 19:1220502-1220502 |  |  |  | 0.001 | 40 | STK11_rf | Hs00001383_rf
STK11_25847_mu | Hs00001417_mu | STK11 | 6794 | NM_000455 | 25847 | c.580G>A | p.D194N | SUBSTITUTION | 19:1220487-1220487 |  |  |  | 0.001 | 38.9 | STK11_rf | Hs00001383_rf
STK11_27346_mu | [NAME] | STK11 | 6794 | NM_000455 | 27346 | c.465_597del133 | p.Y156fs*87 | DELETION | 19:1220372-1220504 |  |  |  | 0.001 | 40 | STK11_rf | Hs00001383_rf
STK11_28298_mu | Hs00001401_mu | STK11 | 6794 | NM_000455 | 28298 | c.841_842>T | p.P281fs*6 | COMPLEX | 19:1221318-1221319 |  |  |  | 0.001 | 40 | STK11_rf | Hs00001383_rf
STK11_48786_mu | Hs00001513_mu | STK11 | 6794 | NM_000455 | 48786 | c.587G>T | p.G196V | SUBSTITUTION | 19:1220494-1220494 |  |  |  | 0.001 | 40 | STK11_rf | Hs00001383_rf
TP53_10645_mu | Hs00000887_mu | TP53 | 7157 | NM_000546 | 10645 | c.527G>T | p.C176F | SUBSTITUTION | 17:7578403-7578403 |  |  |  | 0.0025 | 40 | TP53_rf | Hs00001027_rf
TP53_10647_mu | Hs00001002_mu | TP53 | 7157 | NM_000546 | 10647 | c.404G>T | p.C135F | SUBSTITUTION | 17:7578526-7578526 |  |  |  | 0.001 | 40 | TP53_rf | Hs00001027_rf
TP53_10648_mu | Hs00000888_mu | TP53 | 7157 | NM_000546 | 10648 | c.524G>A | p.R175H | SUBSTITUTION | 17:7578406-7578406 |  |  |  | 0.0025 | 34 | TP53_rf | Hs00001027_rf
TP53_10654_mu | Hs00001003_mu | TP53 | 7157 | NM_000546 | 10654 | c.637C>T | p.R213* | SUBSTITUTION | 17:7578212-7578212 |  |  |  | 0.0025 | 35.8 | TP53_rf | Hs00001027_rf
TP53_10656_mu | Hs00000889_mu | TP53 | 7157 | NM_000546 | 10656 | c.742C>T | p.R248W | SUBSTITUTION | 17:7577539-7577539 |  |  |  | 0.0025 | 36.5 | TP53_rf | Hs00001027_rf |  |  | 6545(c.741_742CC>TT, p.R248W);
TP53_10659_mu | Hs00000890_mu | TP53 | 7157 | NM_000546 | 10659 | c.817C>T | p.R273C | SUBSTITUTION | 17:7577121-7577121 |  |  |  | 0.0025 | 34.3 | TP53_rf | Hs00001027_rf
TP53_10660_mu | Hs00001004_mu | TP53 | 7157 | NM_000546 | 10660 | c.818G>A | p.R273H | SUBSTITUTION | 17:7577120-7577120 |  |  |  | 0.01 | 35 | TP53_rf | Hs00001027_rf
TP53_10662_mu | Hs00001005_mu | TP53 | 7157 | NM_000546 | 10662 | c.743G>A | p.R248Q | SUBSTITUTION | 17:7577538-7577538 |  |  |  | 0.01 | 35.5 | TP53_rf | Hs00001027_rf |  |  | 44908(c.743_744GG>AA, p.R248Q);
TP53_10663_mu | Hs00000891_mu | TP53 | 7157 | NM_000546 | 10663 | c.916C>T | p.R306* | SUBSTITUTION | 17:7577022-7577022 |  |  |  | 0.0025 | 36 | TP53_rf | Hs00001027_rf
TP53_10667_mu | Hs00000892_mu | TP53 | 7157 | NM_000546 | 10667 | c.646G>A | p.V216M | SUBSTITUTION | 17:7578203-7578203 |  |  |  | 0.01 | 38.2 | TP53_rf | Hs00001027_rf
TP53_10670_mu | Hs00000893_mu | TP53 | 7157 | NM_000546 | 10670 | c.469G>T | p.V157F | SUBSTITUTION | 17:7578461-7578461 |  |  |  | 0.0025 | 40 | TP53_rf | Hs00001027_rf
TP53_10690_mu | Hs00000894_mu | TP53 | 7157 | NM_000546 | 10690 | c.473G>A | [NAME] | SUBSTITUTION | 17:7578457-7578457 |  |  |  | 0.01 | 36 | TP53_rf | Hs00001027_rf
TP53_10704_mu | Hs00000895_mu | TP53 | 7157 | NM_000546 | 10704 | c.844C>T | p.R282W | SUBSTITUTION | 17:7577094-7577094 |  |  |  | 0.01 | 37.3 | TP53_rf | Hs00001027_rf
TP53_10705_mu | Hs00000896_mu | TP53 | 7157 | NM_000546 | 10705 | c.586C>T | p.R196* | SUBSTITUTION | 17:7578263-7578263 |  |  |  | 0.0025 | 34.5 | TP53_rf | Hs00001027_rf
TP53_10709_mu | Hs00000897_mu | TP53 | 7157 | NM_000546 | 10709 | c.722C>G | p.S241C | SUBSTITUTION | 17:7577559-7577559 |  |  |  | 0.001 | 40 | TP53_rf | Hs00001027_rf
[NAME] | Hs00000898_mu | TP53 | 7157 | NM_000546 | 10710 | c.892G>T | p.E298* | SUBSTITUTION | 17:7577046-7577046 |  |  |  | 0.001 | 40 | TP53_rf | Hs00001027_rf
TP53_10714_mu | Hs00000899_mu | TP53 | 7157 | NM_000546 | 10714 | c.473G>T | p.R158L | SUBSTITUTION | 17:7578457-7578457 |  |  |  | 0.001 | 40 | TP53_rf | Hs00001027_rf
TP53_10716_mu | Hs00000900_mu | TP53 | 7157 | NM_000546 | 10716 | c.329G>T | p.R110L | SUBSTITUTION | 17:7579358-7579358 |  |  |  | 0.001 | 39 | TP53_rf | Hs00001027_rf
TP53_10722_mu | Hs00000901_mu | TP53 | 7157 | NM_000546 | 10722 | c.853G>A | p.E285K | SUBSTITUTION | 17:7577085-7577085 |  |  |  | 0.001 | 39.3 | TP53_rf | Hs00001027_rf
TP53_10731_mu | Hs00000902_mu | TP53 | 7157 | NM_000546 | 10731 | c.707A>G | p.Y236C | SUBSTITUTION | 17:7577574-7577574 |  |  |  | 0.0025 | 34 | TP53_rf | Hs00001027_rf
TP53_10733_mu | Hs00000903_mu | TP53 | 7157 | NM_000546 | 10733 | c.574C>T | p.Q192* | SUBSTITUTION | 17:7578275-7578275 |  |  |  | 0.0025 | 38.8 | TP53_rf | Hs00001027_rf
TP53_10735_mu | Hs00000904_mu | TP53 | 7157 | NM_000546 | 10735 | c.638G>A | p.R213Q | SUBSTITUTION | 17:7578211-7578211 |  |  |  | 0.01 | 36.5 | TP53_rf | Hs00001027_rf
TP53_10742_mu | Hs00000905_mu | TP53 | 7157 | NM_000546 | 10742 | c.578A>G | p.H193R | SUBSTITUTION | 17:7578271-7578271 |  |  |  | 0.001 | 37.5 | TP53_rf | Hs00001027_rf
TP53_10758_mu | Hs00000906_mu | TP53 | 7157 | NM_000546 | 10758 | c.659A>G | p.Y220C | SUBSTITUTION | 17:7578190-7578190 |  |  |  | 0.01 | 36.3 | TP53_rf | Hs00001027_rf
[NAME] | Hs00000907_mu | TP53 | 7157 | NM_000546 | 10769 | c.820G>T | p.V274F | SUBSTITUTION | 17:7577118-7577118 |  |  |  | 0.001 | 40 | TP53_rf | Hs00001027_rf
TP53_10779_mu | Hs00000908_mu | TP53 | 7157 | NM_000546 | 10779 | c.818G>T | p.R273L | SUBSTITUTION | 17:7577120-7577120 |  |  |  | 0.001 | 40 | TP53_rf | Hs00001027_rf
TP53_10790_mu | Hs00000909_mu | TP53 | 7157 | NM_000546 | 10790 | c.455C>T | p.P152L | SUBSTITUTION | 17:7578475-7578475 |  |  |  | 0.01 | 37.5 | TP53_rf | Hs00001027_rf
TP53_10808_mu | Hs00000910_mu | TP53 | 7157 | NM_000546 | 10808 | c.488A>G | p.Y163C | SUBSTITUTION | 17:7578442-7578442 |  |  |  | 0.0025 | 36.5 | TP53_rf | Hs00001027_rf
TP53_10810_mu | Hs00000911_mu | TP53 | 7157 | NM_000546 | 10810 | c.725G>T | p.C242F | SUBSTITUTION | 17:7577556-7577556 |  |  |  | 0.0025 | 40 | TP53_rf | Hs00001027_rf
TP53_10812_mu | Hs00000912_mu | TP53 | 7157 | NM_000546 | 10812 | c.722C>T | p.S241F | SUBSTITUTION | 17:7577559-7577559 |  |  |  | 0.001 | 38.1 | TP53_rf | Hs00001027_rf |  |  | 6530(c.723delC, p.C242fs*5);
TP53_10813_mu | Hs00000913_mu | TP53 | 7157 | NM_000546 | 10813 | c.394A>G | p.K132E | SUBSTITUTION | 17:7578536-7578536 |  |  |  | 0.001 | 36.8 | TP53_rf | Hs00001027_rf
TP53_10817_mu | Hs00000914_mu | TP53 | 7157 | NM_000546 | 10817 | c.747G>T | p.R249S | SUBSTITUTION | 17:7577534-7577534 |  |  |  | 0.001 | 38.1 | TP53_rf | Hs00001027_rf
TP53_10863_mu | Hs00000915_mu | TP53 | 7157 | NM_000546 | 10863 | c.833C>T | p.P278L | SUBSTITUTION | 17:7577105-7577105 |  |  |  | 0.001 | 36.6 | TP53_rf | Hs00001027_rf
TP53_10867_mu | Hs00000916_mu | TP53 | 7157 | NM_000546 | 10867 | c.797G>A | p.G266E | SUBSTITUTION | 17:7577141-7577141 |  |  |  | 0.0025 | 39.2 | TP53_rf | Hs00001027_rf
TP53_10889_mu | Hs00001006_mu | TP53 | 7157 | NM_000546 | 10889 | c.536A>G | p.H179R | SUBSTITUTION | 17:7578394-7578394 |  |  |  | 0.01 | 32.1 | TP53_rf | Hs00001027_rf
TP53_10891_mu | Hs00000917_mu | TP53 | 7157 | NM_000546 | 10891 | c.814G>A | p.V272M | SUBSTITUTION | 17:7577124-7577124 |  |  |  | 0.0025 | 36.6 | TP53_rf | Hs00001027_rf
TP53_10893_mu | Hs00000918_mu | TP53 | 7157 | NM_000546 | 10893 | c.824G>A | p.C275Y | SUBSTITUTION | 17:7577114-7577114 |  |  |  | 0.01 | 38.9 | TP53_rf | Hs00001027_rf
TP53_10939_mu | Hs00000919_mu | TP53 | 7157 | NM_000546 | 10939 | c.832C>T | p.P278S | SUBSTITUTION | 17:7577106-7577106 |  |  |  | 0.001 | 36.2 | TP53_rf | Hs00001027_rf
TP53_11063_mu | Hs00000920_mu | TP53 | 7157 | NM_000546 | 11063 | c.711G>T | p.M237I | SUBSTITUTION | 17:7577570-7577570 |  |  |  | 0.001 | 40 | TP53_rf | Hs00001027_rf
TP53_11073_mu | Hs00000921_mu | TP53 | 7157 | NM_000546 | 11073 | c.1024C>T | p.R342* | SUBSTITUTION | 17:7574003-7574003 |  |  |  | 0.001 | 36.8 | TP53_rf | Hs00001027_rf
TP53_11081_mu | Hs00000922_mu | TP53 | 7157 | NM_000546 | 11081 | c.733G>T | p.G245C | SUBSTITUTION | 17:7577548-7577548 |  |  |  | 0.001 | 40 | TP53_rf | Hs00001027_rf
[NAME] | Hs00000923_mu | TP53 | 7157 | NM_000546 | 11148 | c.476C>T | p.A159V | SUBSTITUTION | 17:7578454-7578454 |  |  |  | 0.001 | 37.9 | TP53_rf | Hs00001027_rf
TP53_11196_mu | Hs00000924_mu | TP53 | 7157 | NM_000546 | 11196 | c.734G>T | p.G245V | SUBSTITUTION | 17:7577547-7577547 |  |  |  | 0.0025 | 40 | TP53_rf | Hs00001027_rf
TP53_11218_mu | Hs00000925_mu | TP53 | 7157 | NM_000546 | 11218 | c.464C>A | p.T155N | SUBSTITUTION | 17:7578466-7578466 |  |  |  | 0.001 | 39.1 | TP53_rf | Hs00001027_rf
TP53_11224_mu | Hs00000926_mu | TP53 | 7157 | NM_000546 | 11224 | c.394A>C | p.K132Q | SUBSTITUTION | 17:7578536-7578536 |  |  |  | 0.001 | 40 | TP53_rf | Hs00001027_rf
TP53_11232_mu | Hs00001459_mu | TP53 | 7157 | NM_000546 | 11232 | c.842A>G | p.D281G | SUBSTITUTION | 17:7577096-7577096 |  |  |  | 0.001 | 36.3 | TP53_rf | Hs00001027_rf
TP53_11245_mu | Hs00000927_mu | TP53 | 7157 | NM_000546 | 11245 | c.430C>T | p.Q144* | SUBSTITUTION | 17:7578500-7578500 |  |  |  | 0.0025 | 37.5 | TP53_rf | Hs00001027_rf
TP53_11249_mu | Hs00001222_mu | TP53 | 7157 | NM_000546 | 11249 | c.537T>G | p.H179Q | SUBSTITUTION | 17:7578393-7578393 |  |  |  | 0.001 | 40 | TP53_rf | Hs00001027_rf
TP53_11291_mu | Hs00001223_mu | TP53 | 7157 | NM_000546 | 11291 | c.1006G>T | p.E336* | SUBSTITUTION | 17:7574021-7574021 |  |  |  | 0.001 | 39.4 | TP53_rf | Hs00001027_rf
TP53_11305_mu | Hs00001460_mu | TP53 | 7157 | NM_000546 | 11305 | c.809T>C | p.F270S | SUBSTITUTION | 17:7577129-7577129 |  |  |  | 0.001 | 37.2 | TP53_rf | Hs00001027_rf
TP53_11606_mu | Hs00001224_mu | TP53 | 7157 | NM_000546 | 11606 | c.31G>C | p.E11Q | SUBSTITUTION | 17:7579882-7579882 |  |  |  | 0.001 | 40 | TP53_rf | Hs00001027_rf
TP53_43559_mu | Hs00000989_mu | TP53 | 7157 | NM_000546 | 43559 | c.517G>T | p.V173L | SUBSTITUTION | 17:7578413-7578413 |  |  |  | 0.001 | 40 | TP53_rf | Hs00001027_rf
TP53_43583_mu | Hs00001531_mu | TP53 | 7157 | NM_000546 | 43583 | c.425C>T | p.P142L | SUBSTITUTION | 17:7578505-7578505 |  |  |  | 0.0025 | 38.9 | TP53_rf | Hs00001027_rf
TP53_43657_mu | Hs00000990_mu | TP53 | 7157 | NM_000546 | 43657 | c.569C>T | p.P190L | SUBSTITUTION | 17:7578280-7578280 |  |  |  | 0.01 | 39.5 | TP53_rf | Hs00001027_rf
TP53_43683_mu | Hs00001532_mu | TP53 | 7157 | NM_000546 | 43683 | c.758C>T | p.T253I | SUBSTITUTION | 17:7577523-7577523 |  |  |  | 0.001 | 37 | TP53_rf | Hs00001027_rf
TP53_43827_mu | Hs00001533_mu | TP53 | 7157 | NM_000546 | 43827 | c.581T>C | p.L194P | SUBSTITUTION | 17:7578268-7578268 |  |  |  | 0.001 | 38.4 | TP53_rf | Hs00001027_rf
TP53_43836_mu | Hs00000991_mu | TP53 | 7157 | NM_000546 | 43836 | c.475G>C | p.A159P | SUBSTITUTION | 17:7578455-7578455 |  |  |  | 0.001 | 40 | TP53_rf | Hs00001027_rf
TP53_43989_mu | Hs00001534_mu | TP53 | 7157 | NM_000546 | 43989 | c.596G>A | p.G199E | SUBSTITUTION | 17:7578253-7578253 |  |  |  | 0.001 | 37.8 | TP53_rf | Hs00001027_rf
TP53_43990_mu | Hs00001535_mu | TP53 | 7157 | NM_000546 | 43990 | c.610G>A | p.E204K | SUBSTITUTION | 17:7578239-7578239 |  |  |  | 0.001 | 38.8 | TP53_rf | Hs00001027_rf
[NAME] | Hs00001009_mu | TP53 | 7157 | NM_000546 | 44017 | c.869G>A | p.R290H | SUBSTITUTION | 17:7577069-7577069 |  |  |  | 0.01 | 36.2 | TP53_rf | Hs00001027_rf
TP53_44026_mu | Hs00000992_mu | TP53 | 7157 | NM_000546 | 44026 | c.559G>A | p.G187S | SUBSTITUTION | 17:7578371-7578371 |  |  |  | 0.001 | 37.4 | TP53_rf | Hs00001027_rf
TP53_44037_mu | Hs00001536_mu | TP53 | 7157 | NM_000546 | 44037 | c.322G>A | p.G108S | SUBSTITUTION | 17:7579365-7579365 |  |  |  | 0.001 | 37.8 | TP53_rf | Hs00001027_rf
TP53_44143_mu | Hs00001537_mu | TP53 | 7157 | NM_000546 | 44143 | c.919+1G>A | p.? | SUBSTITUTION | 17:7577018-7577018 |  |  |  | 0.001 | 37.2 | TP53_rf | Hs00001027_rf
TP53_44151_mu | Hs00000993_mu | TP53 | 7157 | NM_000546 | 44151 | c.535C>A | p.H179N | SUBSTITUTION | 17:7578395-7578395 |  |  |  | 0.001 | 40 | TP53_rf | Hs00001027_rf
TP53_44162_mu | Hs00001538_mu | TP53 | 7157 | NM_000546 | 44162 | c.635_636delTT | p.F212fs*3 | DELETION | 17:7578213-7578214 |  |  |  | 0.001 | 40 | TP53_rf | Hs00001027_rf
TP53_44241_mu | Hs00000994_mu | TP53 | 7157 | NM_000546 | 44241 | c.592G>T | p.E198* | SUBSTITUTION | 17:7578257-7578257 |  |  |  | 0.001 | 40 | TP53_rf | Hs00001027_rf
TP53_44539_mu | Hs00001539_mu | TP53 | 7157 | NM_000546 | 44539 | c.584T>G | p.I195S | SUBSTITUTION | 17:7578265-7578265 |  |  |  | 0.001 | 40 | TP53_rf | Hs00001027_rf
TP53_44613_mu | Hs00001540_mu | TP53 | 7157 | NM_000546 | 44613 | c.455C>A | p.P152Q | SUBSTITUTION | 17:7578475-7578475 |  |  |  | 0.001 | 40 | TP53_rf | Hs00001027_rf
TP53_44673_mu | Hs00001541_mu | TP53 | 7157 | NM_000546 | 44673 | c.284C>T | p.S95F | SUBSTITUTION | 17:7579403-7579403 |  |  |  | 0.001 | 36.8 | TP53_rf | Hs00001027_rf
TP53_44769_mu | Hs00001542_mu | TP53 | 7157 | NM_000546 | 44769 | c.755T>C | p.L252P | SUBSTITUTION | 17:7577526-7577526 |  |  |  | 0.001 | 38.4 | TP53_rf | Hs00001027_rf
TP53_44782_mu | Hs00001543_mu | TP53 | 7157 | NM_000546 | 44782 | c.520A>T | p.R174W | SUBSTITUTION | 17:7578410-7578410 |  |  |  | 0.001 | 40 | TP53_rf | Hs00001027_rf
[NAME] | Hs00001544_mu | TP53 | 7157 | NM_000546 | 44877 | c.584T>A | p.I195N | SUBSTITUTION | 17:7578265-7578265 |  |  |  | 0.001 | 38.6 | TP53_rf | Hs00001027_rf
TP53_44908_mu | Hs00001545_mu | TP53 | 7157 | NM_000546 | 44908 | c.743_744GG>AA | p.R248Q | COMPLEX | 17:7577537-7577538 |  |  |  | 0.001 | 40 | TP53_rf | Hs00001027_rf
TP53_45031_mu | [NAME] | TP53 | 7157 | NM_000546 | 45031 | c.560-2A>C | p.? | SUBSTITUTION | 17:7578291-7578291 |  |  |  | 0.001 | 39.6 | TP53_rf | Hs00001027_rf
TP53_45286_mu | Hs00001547_mu | TP53 | 7157 | NM_000546 | 45286 | c.475G>T | p.A159S | SUBSTITUTION | 17:7578455-7578455 |  |  |  | 0.001 | 40 | TP53_rf | Hs00001027_rf
TP53_45307_mu | Hs00001548_mu | TP53 | 7157 | NM_000546 | 45307 | c.309C>A | p.Y103* | SUBSTITUTION | 17:7579378-7579378 |  |  |  | 0.001 | 40 | TP53_rf | Hs00001027_rf
TP53_46350_mu | Hs00001549_mu | TP53 | 7157 | NM_000546 | 46350 | c.220delG | p.A74fs*49 | DELETION | 17:7579467-7579467 |  |  |  | 0.001 | 39.7 | TP53_rf | Hs00001027_rf
TP53_6530_mu | Hs00001393_mu | TP53 | 7157 | NM_000546 | 6530 | c.723delC | p.C242fs*5 | DELETION | 17:7577558-7577558 |  |  |  | 0.001 | 39.6 | TP53_rf | Hs00001027_rf
TP53_6545_mu | Hs00000884_mu | TP53 | 7157 | NM_000546 | 6545 | c.741_742CC>TT | p.R248W | COMPLEX | 17:7577539-7577540 |  |  |  | 0.001 | 40 | TP53_rf | Hs00001027_rf
TP53_6549_mu | Hs00000885_mu | TP53 | 7157 | NM_000546 | 6549 | c.743G>T | p.R248L | SUBSTITUTION | 17:7577538-7577538 |  |  |  | 0.001 | 40 | TP53_rf | Hs00001027_rf
TP53_6900_mu | Hs00001221_mu | TP53 | 7157 | NM_000546 | 6900 | c.376-1G>A | p.? | SUBSTITUTION | 17:7578555-7578555 |  |  |  | 0.0025 | 36.7 | TP53_rf | Hs00001027_rf
TP53_6932_mu | Hs00000886_mu | TP53 | 7157 | NM_000546 | 6932 | c.733G>A | p.G245S | SUBSTITUTION | 17:7577548-7577548 |  |  |  | 0.01 | 36.4 | TP53_rf | Hs00001027_rf
[NAME] | Hs00001129_mu | VHL | 7428 | NM_000551.2 | 14290 | c.240T>A | p.S80R | SUBSTITUTION | 3:10183771-10183771 |  |  |  | 0.001 | 40 | VHL_rf | Hs00001028_rf
VHL_14305_mu | Hs00001107_mu | VHL | 7428 | NM_000551.2 | 14305 | c.266T>A | p.L89H | SUBSTITUTION | 3:10183797-10183797 |  |  |  | 0.001 | 39.8 | VHL_rf | Hs00001028_rf
VHL_14311_mu | Hs00001108_mu | VHL | 7428 | NM_000551.2 | 14311 | c.499C>T | p.R167W | SUBSTITUTION | 3:10191506-10191506 |  |  |  | 0.001 | 37.1 | VHL_rf | Hs00001028_rf
VHL_14346_mu | Hs00000948_mu | VHL | 7428 | NM_000551.2 | 14346 | c.266T>C | p.L89P | SUBSTITUTION | 3:10183797-10183797 |  |  |  | 0.001 | 39.7 | VHL_rf | Hs00001028_rf
VHL_14368_mu | Hs00001109_mu | VHL | 7428 | NM_000551.2 | 14368 | c.473T>A | p.L158Q | SUBSTITUTION | 3:10191480-10191480 |  |  |  | 0.001 | 40 | VHL_rf | Hs00001028_rf
VHL_14372_mu | Hs00000949_mu | VHL | 7428 | NM_000551.2 | 14372 | c.203C>A | p.S68* | SUBSTITUTION | 3:10183734-10183734 |  |  |  | 0.001 | 40 | VHL_rf | Hs00001028_rf
[NAME] | Hs00000950_mu | VHL | 7428 | NM_000551.2 | 14400 | c.194C>T | p.S65L | SUBSTITUTION | 3:10183725-10183725 |  |  |  | 0.001 | 39.7 | VHL_rf | Hs00001028_rf
VHL_14407_mu | Hs00001110_mu | VHL | 7428 | NM_000551.2 | 14407 | c.388G>C | p.V130L | SUBSTITUTION | 3:10188245-10188245 |  |  |  | 0.001 | 40 | VHL_rf | Hs00001028_rf
VHL_14410_mu | Hs00001438_mu | VHL | 7428 | NM_000551.2 | 14410 | c.440delT | p.F148fs*11 | DELETION | 3:10188297-10188297 |  |  |  | 0.001 | 40 | VHL_rf | Hs00001028_rf |  |  | 17735(c.444delT, p.F148fs*11);
VHL_17612_mu | Hs00001113_mu | VHL | 7428 | NM_000551.2 | 17612 | c.481C>T | p.R161* | SUBSTITUTION | 3:10191488-10191488 |  |  |  | 0.001 | 40 | VHL_rf | Hs00001028_rf
VHL_17658_mu | Hs00001114_mu | VHL | 7428 | NM_000551.2 | 17658 | c.286C>T | p.Q96* | SUBSTITUTION | 3:10183817-10183817 |  |  |  | 0.001 | 36.4 | VHL_rf | Hs00001028_rf
VHL_17721_mu | Hs00000956_mu | VHL | 7428 | NM_000551.2 | 17721 | c.241C>T | p.P81S | SUBSTITUTION | 3:10183772-10183772 |  |  |  | 0.0025 | 37.8 | VHL_rf | Hs00001028_rf
VHL_17859_mu | Hs00001439_mu | VHL | 7428 | NM_000551.2 | 17859 | c.254T>C | p.L85P | SUBSTITUTION | 3:10183785-10183785 |  |  |  | 0.001 | 36.3 | VHL_rf | Hs00001028_rf