CB500 Panel Somatic Report
Version: CB500_somatic_hg38.1.5.0

報告序號:

分析日期:2023 12/27 15:08:30

分析案號:CB500231227150139

基本資料
受試者姓名	黃家鴻	身份証字號	F154935782	病歷號碼	2012-325648
出生日期	78/06/15	年齡	35	性別	男
檢體編號	S10-53642	送檢單位	BC	送檢醫師	Dr. Lin
檢體類型	Biopsy	採檢日期	2023/12/12	檢測日期	2023/12/18

Result:Positive


Gene/Variant	TIER ▼ 全選 Tier1 Tier2 Tier3 Tier4 N/A	Frequency	Clinical significant	ChEMBLinformation
KRAS NC_000012.12:g.25245351C>T NM_001369786.1:c.34G>A p.Gly12Ser missense_variant	TIER 2	Allelic Frequency 0.010(461) Population Frequency All:. EAS: .	ClinVar Pathogenic	Adagrasib
MPL NC_000001.11:g.43340042C>T NM_005373.3:c.769C>T p.Arg257Cys missense_variant	TIER 3	Allelic Frequency 5.132e-03(476) Population Frequency All:5.981480e-05 EAS: 0.000000e+00	ClinVar Pathogenic	NA
ASXL2 . NM_018263.6:c.1004C>T p.Ala335Val missense_variant	TIER 3	Allelic Frequency 5.482e-03(690) Population Frequency All:. EAS: .	ClinVar .	NA
FHL2 . NM_001039492.3:c.175C>T p.Arg59Trp missense_variant	TIER 3	Allelic Frequency 9.309e-03(253) Population Frequency All:2.387430e-05 EAS: 0.000000e+00	ClinVar .	NA
MITF . NM_001354604.2:c.1179+4C>T . splice_region_variant&intron_variant	TIER 3	Allelic Frequency 8.378e-03(342) Population Frequency All:. EAS: .	ClinVar .	NA
SDHA NC_000005.10:g.251092C>T NM_004168.4:c.1652C>T p.Thr551Met missense_variant	TIER 3	Allelic Frequency 0.011(265) Population Frequency All:2.787330e-05 EAS: 0.000000e+00	ClinVar Uncertain_significance	NA
IGF2R . NM_000876.3:c.7268C>T p.Ser2423Leu missense_variant	TIER 3	Allelic Frequency 4.715e-03(475) Population Frequency All:1.194450e-05 EAS: 1.105460e-04	ClinVar .	NA
KAT6A . NM_006766.5:c.3386G>A p.Arg1129Gln missense_variant	TIER 3	Allelic Frequency 5.851e-03(694) Population Frequency All:4.034960e-06 EAS: 0.000000e+00	ClinVar .	NA
LMO1 . NM_002315.3:c.101G>A p.Arg34His missense_variant	TIER 3	Allelic Frequency 4.573e-03(384) Population Frequency All:1.593750e-05 EAS: 0.000000e+00	ClinVar .	NA
ARNTL . NM_001351807.1:c.1864G>A p.Val622Ile missense_variant	TIER 3	Allelic Frequency 6.068e-03(460) Population Frequency All:. EAS: .	ClinVar .	NA
KMT2D . NM_003482.3:c.13847T>C p.Leu4616Pro missense_variant	TIER 3	Allelic Frequency 0.021(72) Population Frequency All:. EAS: .	ClinVar .	NA
PTPN11 . NM_001330437.1:c.1706C>A p.Pro569Gln missense_variant	TIER 3	Allelic Frequency 0.011(277) Population Frequency All:. EAS: .	ClinVar .	NA
FLT3 . NM_004119.3:c.1530C>G p.Phe510Leu missense_variant	TIER 3	Allelic Frequency 6.361e-03(515) Population Frequency All:. EAS: .	ClinVar .	Sorafenib Tosylate, Fedratinib, Sorafenib, Crenolanib, Linifanib, Gilteritinib Fumarate, Gilteritinib, Famitinib, EGFR/FLT3/Abl Inhibitor SKLB1028, Pexidartinib, Pexidartinib Hydrochloride, Dovitinib, Sunitinib Malate, Quizartinib, Midostaurin
TP53 NC_000017.11:g.7670685G>A NM_000546.5:c.1024C>T p.Arg342* stop_gained	TIER 3	Allelic Frequency 0.010(231) Population Frequency All:. EAS: .	ClinVar Pathogenic	NA
NF1 NC_000017.11:g.31226456G>A NM_001042492.3:c.2023G>A p.Gly675Arg missense_variant	TIER 3	Allelic Frequency 5.926e-03(473) Population Frequency All:2.793880e-05 EAS: 0.000000e+00	ClinVar Uncertain_significance	NA
BRIP1 NC_000017.11:g.61801327G>A NM_032043.3:c.1066C>T p.Arg356* stop_gained	TIER 3	Allelic Frequency 7.071e-03(512) Population Frequency All:7.957920e-06 EAS: 1.105710e-04	ClinVar Pathogenic	NA
SMAD2 . NM_001003652.4:c.971C>T p.Thr324Met missense_variant	TIER 3	Allelic Frequency 8.005e-03(323) Population Frequency All:2.784010e-05 EAS: 1.105460e-04	ClinVar .	NA
SMAD4 NC_000018.10:g.51065548C>A NM_005359.6:c.1081C>A p.Arg361Ser missense_variant	TIER 3	Allelic Frequency 5.092e-03(504) Population Frequency All:. EAS: .	ClinVar Pathogenic	NA
SMARCA4 NC_000019.10:g.10996313C>T NM_001128849.2:c.1694C>T p.Thr565Met missense_variant	TIER 3	Allelic Frequency 7.802e-03(304) Population Frequency All:. EAS: .	ClinVar Uncertain_significance	NA
CIC . NM_001304815.1:c.6235C>T p.Gln2079* stop_gained	TIER 3	Allelic Frequency 5.901e-03(368) Population Frequency All:. EAS: .	ClinVar .	NA
SMC1A . NM_006306.4:c.2381A>G p.Glu794Gly missense_variant	TIER 3	Allelic Frequency 0.010(237) Population Frequency All:. EAS: .	ClinVar .	NA
FHAD1 . NM_052929.2:c.3218G>A p.Arg1073Gln missense_variant	TIER 4	Allelic Frequency 0.010(231) Population Frequency All:1.315650e-05 EAS: 2.409640e-04	ClinVar .	NA
MYBPHL . NM_001010985.3:c.856G>A p.Ala286Thr missense_variant	TIER 4	Allelic Frequency 0.011(206) Population Frequency All:2.386960e-05 EAS: 1.105950e-04	ClinVar .	NA
WARS2 . NM_015836.3:c.662G>A p.Arg221His missense_variant	TIER 4	Allelic Frequency 8.041e-03(311) Population Frequency All:. EAS: .	ClinVar .	NA
RNF115 . NM_014455.4:c.667G>A p.Asp223Asn missense_variant&splice_region_variant	TIER 4	Allelic Frequency 0.027(140) Population Frequency All:. EAS: .	ClinVar .	NA
INSRR . NM_014215.3:c.400G>A p.Val134Met missense_variant	TIER 4	Allelic Frequency 4.855e-03(367) Population Frequency All:8.826270e-05 EAS: 0.000000e+00	ClinVar .	NA
ARHGAP30 . NM_001025598.2:c.707G>A p.Arg236Gln missense_variant	TIER 4	Allelic Frequency 8.185e-03(247) Population Frequency All:2.791180e-05 EAS: 0.000000e+00	ClinVar .	NA
RALGPS2 . NM_152663.5:c.608-11776C>T . intron_variant	TIER 4	Allelic Frequency 0.012(275) Population Frequency All:. EAS: .	ClinVar .	NA
CDC73 . NM_024529.4:c.1270C>T p.Pro424Ser missense_variant	TIER 4	Allelic Frequency 9.525e-03(358) Population Frequency All:. EAS: .	ClinVar .	NA
PRELP . NM_002725.4:c.1031C>T p.Ser344Leu missense_variant	TIER 4	Allelic Frequency 5.753e-03(376) Population Frequency All:. EAS: .	ClinVar .	NA
ARF1 . NM_001024226.1:c.533G>A p.Arg178Gln missense_variant	TIER 4	Allelic Frequency 5.869e-03(331) Population Frequency All:. EAS: .	ClinVar .	NA
HEATR5B . NM_019024.3:c.895G>A p.Val299Ile missense_variant	TIER 4	Allelic Frequency 9.639e-03(323) Population Frequency All:4.376300e-05 EAS: 0.000000e+00	ClinVar .	NA
ARID5A . NM_001319085.2:c.898T>C p.Phe300Leu missense_variant	TIER 4	Allelic Frequency 5.397e-03(365) Population Frequency All:. EAS: .	ClinVar .	NA
INPP4A . NM_001134224.1:c.1523G>T p.Arg508Leu missense_variant	TIER 4	Allelic Frequency 5.608e-03(365) Population Frequency All:4.017770e-06 EAS: 0.000000e+00	ClinVar .	NA
RNF149 . NM_173647.4:c.1159+6C>T . splice_region_variant&intron_variant	TIER 4	Allelic Frequency 9.181e-03(310) Population Frequency All:. EAS: .	ClinVar .	NA
FASTKD1 . NM_001322046.1:c.2228C>T p.Pro743Leu missense_variant	TIER 4	Allelic Frequency 9.639e-03(354) Population Frequency All:1.046180e-04 EAS: 0.000000e+00	ClinVar .	NA
SF3B1 . NM_012433.3:c.371G>A p.Arg124Gln missense_variant	TIER 4	Allelic Frequency 7.986e-03(430) Population Frequency All:. EAS: .	ClinVar .	NA
ZNF142 . NM_001366290.3:c.5545G>A p.Asp1849Asn missense_variant	TIER 4	Allelic Frequency 8.235e-03(240) Population Frequency All:1.288900e-05 EAS: 0.000000e+00	ClinVar .	NA
CRELD1 . NM_001077415.3:c.1246T>C p.Phe416Leu missense_variant	TIER 4	Allelic Frequency 5.768e-03(363) Population Frequency All:. EAS: .	ClinVar .	NA
ARPP21 . NM_001267619.1:c.1043C>T p.Ala348Val missense_variant	TIER 4	Allelic Frequency 6.185e-03(406) Population Frequency All:8.003070e-06 EAS: 0.000000e+00	ClinVar .	NA
ATRIP . NM_130384.3:c.1716_1748delCAGCATCTGTCAGTGGAGACCACAGGCCCTGCT . 3_prime_UTR_variant	TIER 4	Allelic Frequency 4.199e-03(518) Population Frequency All:. EAS: .	ClinVar .	NA
RAD54L2 . NM_001322253.2:c.1291G>A p.Val431Ile missense_variant	TIER 4	Allelic Frequency 7.005e-03(396) Population Frequency All:. EAS: .	ClinVar .	NA
ARHGEF3 . NM_001128615.2:c.301C>T p.Arg101Cys missense_variant&splice_region_variant	TIER 4	Allelic Frequency 0.013(165) Population Frequency All:4.012130e-06 EAS: 0.000000e+00	ClinVar .	NA
ARHGAP31 . NM_020754.4:c.451C>T p.Arg151* stop_gained	TIER 4	Allelic Frequency 7.289e-03(395) Population Frequency All:. EAS: .	ClinVar .	NA
ARGFX . NM_001012659.2:c.-12-2A>G . splice_acceptor_variant&intron_variant	TIER 4	Allelic Frequency 6.674e-03(384) Population Frequency All:. EAS: .	ClinVar .	NA
STAG1 . NM_005862.3:c.3688C>T p.Arg1230Trp missense_variant	TIER 4	Allelic Frequency 0.010(328) Population Frequency All:. EAS: .	ClinVar .	NA
TP63 NC_000003.12:g.189738739C>T NM_003722.5:c.289C>T p.Arg97Cys missense_variant	TIER 4	Allelic Frequency 5.476e-03(530) Population Frequency All:1.195030e-05 EAS: 0.000000e+00	ClinVar Pathogenic	NA
CCKAR . NM_000730.3:c.577G>A p.Ala193Thr missense_variant	TIER 4	Allelic Frequency 8.801e-03(314) Population Frequency All:2.385930e-05 EAS: 0.000000e+00	ClinVar .	NA
PHOX2B . NM_003924.4:c.643G>A p.Gly215Ser missense_variant	TIER 4	Allelic Frequency 0.011(253) Population Frequency All:. EAS: .	ClinVar .	NA
ARHGAP24 . NM_001025616.3:c.704C>A p.Ala235Asp missense_variant	TIER 4	Allelic Frequency 0.010(313) Population Frequency All:. EAS: .	ClinVar .	NA
ARHGAP24 . NM_001025616.3:c.739A>G p.Lys247Glu missense_variant	TIER 4	Allelic Frequency 0.010(319) Population Frequency All:. EAS: .	ClinVar .	NA
MARCHF11 . NM_001102562.3:c.95C>T p.Pro32Leu missense_variant	TIER 4	Allelic Frequency 7.237e-03(405) Population Frequency All:. EAS: .	ClinVar .	NA
RAD50 NC_000005.10:g.132640693C>T NM_005732.4:c.3640C>T p.Arg1214Cys missense_variant	TIER 4	Allelic Frequency 0.010(230) Population Frequency All:3.976650e-06 EAS: 0.000000e+00	ClinVar Uncertain_significance	NA
PCDH1 . NM_032420.4:c.1039C>T p.Arg347Cys missense_variant	TIER 4	Allelic Frequency 4.719e-03(428) Population Frequency All:7.952790e-06 EAS: 0.000000e+00	ClinVar .	NA
RNF145 . NM_001199380.1:c.358C>T p.Leu120Phe missense_variant	TIER 4	Allelic Frequency 8.594e-03(413) Population Frequency All:. EAS: .	ClinVar .	NA
EIF4E1B . NM_001099408.2:c.-1713_-1681delCTTGGTCTTCTCCGCCGCCTCGGTGACCCCCTG . upstream_gene_variant	TIER 4	Allelic Frequency 6.446e-03(276) Population Frequency All:. EAS: .	ClinVar .	NA
NSD1 . NM_022455.4:c.6898G>A p.Ala2300Thr missense_variant	TIER 4	Allelic Frequency 7.351e-03(254) Population Frequency All:1.995100e-05 EAS: 0.000000e+00	ClinVar .	NA
DDX41 . NM_016222.4:c.1435C>T p.Arg479Trp missense_variant	TIER 4	Allelic Frequency 3.966e-03(466) Population Frequency All:1.591360e-05 EAS: 0.000000e+00	ClinVar .	NA
CARMIL1 . NM_017640.6:c.3818C>T p.Pro1273Leu missense_variant	TIER 4	Allelic Frequency 6.219e-03(406) Population Frequency All:2.415070e-05 EAS: 0.000000e+00	ClinVar .	NA
MAPK13 . NM_002754.5:c.20A>G p.Lys7Arg missense_variant	TIER 4	Allelic Frequency 7.531e-03(619) Population Frequency All:. EAS: .	ClinVar .	NA
ARFGEF3 . NM_020340.5:c.5546C>T p.Thr1849Met missense_variant	TIER 4	Allelic Frequency 5.372e-03(403) Population Frequency All:1.203890e-05 EAS: 0.000000e+00	ClinVar .	NA
PIK3CG . NM_001282426.2:c.875G>A p.Trp292* stop_gained	TIER 4	Allelic Frequency 6.617e-03(261) Population Frequency All:. EAS: .	ClinVar .	Buparlisib, Taselisib, Duvelisib
ARF5 . NM_001662.4:c.*4084T>C . downstream_gene_variant	TIER 4	Allelic Frequency 6.341e-03(345) Population Frequency All:. EAS: .	ClinVar .	NA
PRKDC NC_000008.11:g.47858926G>A NM_006904.7:c.6268C>T p.Arg2090Trp missense_variant	TIER 4	Allelic Frequency 5.576e-03(446) Population Frequency All:2.008020e-05 EAS: 0.000000e+00	ClinVar Uncertain_significance	NA
ARFGEF1 . NM_006421.5:c.5014C>T p.Arg1672Cys missense_variant	TIER 4	Allelic Frequency 4.995e-03(654) Population Frequency All:1.193240e-05 EAS: 0.000000e+00	ClinVar .	NA
PREX2 . NM_024870.4:c.3724+2T>C . splice_donor_variant&intron_variant	TIER 4	Allelic Frequency 0.011(280) Population Frequency All:. EAS: .	ClinVar .	NA
ZFHX4 . NM_024721.5:c.5119G>A p.Ala1707Thr missense_variant	TIER 4	Allelic Frequency 5.491e-03(419) Population Frequency All:5.221430e-05 EAS: 0.000000e+00	ClinVar .	NA
TOP1MT . NM_052963.3:c.223C>T p.Arg75Cys missense_variant	TIER 4	Allelic Frequency 6.315e-03(311) Population Frequency All:3.598650e-05 EAS: 3.320050e-04	ClinVar .	Topotecan Hydrochloride, Topotecan
ZNF169 . NM_003448.2:c.1374_1457delCTACCTGTGCCCTGATTGTGGGCGTGGCTTTGGTCAGAAGGTCACCCTCATCAGACACCAGAGGACACACACAGGGGAGAAGCC p.Tyr459_Pro486del disruptive_inframe_deletion	TIER 4	Allelic Frequency 2.701e-03(1198) Population Frequency All:. EAS: .	ClinVar .	NA
SARDH . NM_001134707.2:c.2176C>T p.Arg726Trp missense_variant	TIER 4	Allelic Frequency 6.370e-03(322) Population Frequency All:. EAS: .	ClinVar .	NA
ADARB2 . NM_018702.4:c.1369C>T p.Arg457Cys missense_variant	TIER 4	Allelic Frequency 8.374e-03(273) Population Frequency All:7.980400e-06 EAS: 0.000000e+00	ClinVar .	NA
ARMH3 . NM_024541.3:c.812dupT p.Ser272fs frameshift_variant	TIER 4	Allelic Frequency 6.322e-03(556) Population Frequency All:. EAS: .	ClinVar .	NA
ZNF195 . NM_001130520.3:c.326A>G p.Asn109Ser missense_variant	TIER 4	Allelic Frequency 0.011(297) Population Frequency All:. EAS: .	ClinVar .	NA
ZNF195 . NM_001256824.2:c.331+1_331+2delGTinsAC . splice_donor_variant&intron_variant	TIER 4	Allelic Frequency 0.012(268) Population Frequency All:. EAS: .	ClinVar .	NA
ART1 . NM_004314.3:c.406C>T p.Arg136Cys missense_variant	TIER 4	Allelic Frequency 5.448e-03(323) Population Frequency All:4.007370e-05 EAS: 0.000000e+00	ClinVar .	NA
ZNF214 . NM_001354830.2:c.787_788delTGinsCA p.Cys263His missense_variant	TIER 4	Allelic Frequency 8.555e-03(347) Population Frequency All:. EAS: .	ClinVar .	NA
ZNF214 . NM_001354830.2:c.730C>T p.Arg244Trp missense_variant	TIER 4	Allelic Frequency 8.751e-03(295) Population Frequency All:8.820820e-05 EAS: 0.000000e+00	ClinVar .	NA
RNF141 . NM_016422.4:c.*6724C>T . downstream_gene_variant	TIER 4	Allelic Frequency 0.012(241) Population Frequency All:. EAS: .	ClinVar .	NA
MAP3K11 . NM_002419.4:c.2318G>A p.Arg773His missense_variant	TIER 4	Allelic Frequency 8.486e-03(235) Population Frequency All:4.049470e-06 EAS: 0.000000e+00	ClinVar .	NA
RPS6KB2 . NM_003952.3:c.*676C>T . downstream_gene_variant	TIER 4	Allelic Frequency 6.429e-03(360) Population Frequency All:. EAS: .	ClinVar .	NA
FGF3 . NM_005247.4:c.511C>T p.Arg171Cys missense_variant	TIER 4	Allelic Frequency 7.055e-03(321) Population Frequency All:. EAS: .	ClinVar .	NA
POU2AF1 . NM_006235.3:c.68G>A p.Arg23His missense_variant	TIER 4	Allelic Frequency 0.012(205) Population Frequency All:. EAS: .	ClinVar .	NA
KIRREL3 . NM_032531.4:c.2051G>A p.Gly684Asp missense_variant	TIER 4	Allelic Frequency 5.215e-03(405) Population Frequency All:. EAS: .	ClinVar .	NA
KIRREL3 NC_000011.10:g.126521344C>T NM_032531.4:c.404G>A p.Arg135His missense_variant	TIER 4	Allelic Frequency 3.790e-03(533) Population Frequency All:. EAS: .	ClinVar Uncertain_significance	NA
ARHGAP32 . NM_001142685.1:c.599G>A p.Arg200His missense_variant	TIER 4	Allelic Frequency 7.117e-03(608) Population Frequency All:4.033010e-05 EAS: 0.000000e+00	ClinVar .	NA
ARF3 . NM_001659.3:c.152T>C p.Phe51Ser missense_variant	TIER 4	Allelic Frequency 0.012(208) Population Frequency All:. EAS: .	ClinVar .	NA
RAB35 . NM_006861.7:c.280G>A p.Glu94Lys missense_variant	TIER 4	Allelic Frequency 6.067e-03(324) Population Frequency All:. EAS: .	ClinVar .	NA
ZNF268 . NM_001165881.3:c.2315G>A p.Arg772Gln missense_variant	TIER 4	Allelic Frequency 5.619e-03(539) Population Frequency All:6.444640e-05 EAS: 0.000000e+00	ClinVar .	NA
PARP4 . NM_006437.4:c.359C>T p.Pro120Leu missense_variant	TIER 4	Allelic Frequency 4.788e-03(893) Population Frequency All:1.226440e-05 EAS: 1.145210e-04	ClinVar .	NA
MYCBP2 . NM_015057.5:c.1780G>A p.Ala594Thr missense_variant	TIER 4	Allelic Frequency 5.822e-03(650) Population Frequency All:. EAS: .	ClinVar .	NA
ARIH1 . NM_005744.5:c.911+6C>T . splice_region_variant&intron_variant	TIER 4	Allelic Frequency 0.011(300) Population Frequency All:. EAS: .	ClinVar .	NA
ARNT2 . NM_014862.4:c.1019G>A p.Arg340Gln missense_variant	TIER 4	Allelic Frequency 7.422e-03(382) Population Frequency All:3.978420e-06 EAS: 0.000000e+00	ClinVar .	NA
FANCI NC_000015.10:g.89305390C>T NM_001113378.1:c.3236C>T p.Thr1079Met missense_variant	TIER 4	Allelic Frequency 4.079e-03(583) Population Frequency All:3.064480e-04 EAS: 2.653110e-03	ClinVar Conflicting_interpretations_of_pathogenicity	NA
TSC2 . NM_000548.5:c.3221_3376del . downstream_gene_variant	TIER 4	Allelic Frequency 5.443e-03(698) Population Frequency All:. EAS: .	ClinVar .	NA
CDH11 . NM_001797.4:c.1430G>T p.Arg477Met missense_variant	TIER 4	Allelic Frequency 0.012(256) Population Frequency All:1.671670e-04 EAS: 0.000000e+00	ClinVar .	NA
ANKRD11 . NM_001256182.2:c.4529C>T p.Pro1510Leu missense_variant	TIER 4	Allelic Frequency 5.207e-03(442) Population Frequency All:3.986030e-06 EAS: 0.000000e+00	ClinVar .	NA
ANKRD11 . NM_001256182.2:c.2944G>A p.Glu982Lys missense_variant	TIER 4	Allelic Frequency 4.422e-03(565) Population Frequency All:4.023590e-06 EAS: 0.000000e+00	ClinVar .	NA
ANKRD11 . NM_001256182.2:c.779C>T p.Pro260Leu missense_variant	TIER 4	Allelic Frequency 7.516e-03(273) Population Frequency All:3.978580e-06 EAS: 0.000000e+00	ClinVar .	NA
ALKBH7 . NM_032306.4:c.-4262G>A . upstream_gene_variant	TIER 4	Allelic Frequency 8.274e-03(291) Population Frequency All:2.790620e-05 EAS: 0.000000e+00	ClinVar .	NA
LPAR2 . NM_004720.6:c.-2413G>A . upstream_gene_variant	TIER 4	Allelic Frequency 6.543e-03(363) Population Frequency All:7.953990e-06 EAS: 1.105460e-04	ClinVar .	NA
ZNF257 . NM_033468.4:c.757A>G p.Arg253Gly missense_variant	TIER 4	Allelic Frequency 0.026(85) Population Frequency All:. EAS: .	ClinVar .	NA
KMT2B . NM_014727.2:c.5C>T p.Ala2Val missense_variant	TIER 4	Allelic Frequency 0.017(179) Population Frequency All:. EAS: .	ClinVar .	NA
ZNF134 . NM_003435.5:c.169C>T p.Pro57Ser missense_variant	TIER 4	Allelic Frequency 4.926e-03(482) Population Frequency All:. EAS: .	ClinVar .	NA
ZNF135 . NM_007134.1:c.1946G>A p.Arg649Gln missense_variant	TIER 4	Allelic Frequency 7.189e-03(291) Population Frequency All:3.182940e-05 EAS: 0.000000e+00	ClinVar .	NA
FASTKD5 . NM_021826.5:c.571T>C p.Cys191Arg missense_variant	TIER 4	Allelic Frequency 6.797e-03(354) Population Frequency All:. EAS: .	ClinVar .	NA
ATRN . NM_139321.3:c.3344C>T p.Ala1115Val missense_variant	TIER 4	Allelic Frequency 9.047e-03(607) Population Frequency All:1.199540e-05 EAS: 0.000000e+00	ClinVar .	NA
CARD10 . NM_014550.4:c.1022C>T p.Ala341Val missense_variant	TIER 4	Allelic Frequency 4.885e-03(662) Population Frequency All:. EAS: .	ClinVar .	NA
PCDH11X . NM_032968.4:c.16G>A p.Gly6Arg missense_variant	TIER 4	Allelic Frequency 7.911e-03(303) Population Frequency All:. EAS: .	ClinVar .	NA

Gene/Vatiant 為產生變異之基因，並顯示該變異在核酸(NC_),轉錄體(NM_)，蛋白質上的位置以及該變異發生的種類。 TIER 將該變異之相關藥物，依據臨床試驗的證據強度進行分級。 Allele frequency為該變異發生的百分比及()內數值為其定序深度。 Population frequency,代表該變異在資料庫中發生的頻率。 Global:為該變異在總體族群中發生的頻率; EAS,為該變異在東亞族群中發生的頻率。 Clinical significance 於ClinVar資料庫中參考ACMG/AMP以及ClinGen指引所進行的分類。 ChEMBL information 該變異在ChEMBL資料庫中之藥物資訊。

檢測目的說明:

CB500癌別癌症基因檢測套組，可檢測523個癌症相關之基因

檢測標的

ABL2, ACVR1, ABL2, ACVR1, ACVR1B, AKT1, AKT2, AKT3, ALK, ALOX12B, ANKRD11, ANKRD26, APC, AR, ARAF, ARFRP1, ARID1A, ARID1B, ARID2, ARID5B, ASXL1, ASXL2, ATM, ATR, ATRX, AURKA, AURKB, AXIN1, AXIN2, AXL, B2M, BAP1, BARD1, BBC3, BCL10, BCL2, BCL2L1, BCL2L11, BCL2L2, BCL6, BCOR, BCORL1, BCR, BIRC3, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRD4, BRIP1, BTG1, BTK, C11orf30, CALR, CARD11, CASP8, CBFB, CBL, CCND1, CCND2, CCND3, CCNE1, CD274, CD276, CD74, CD79A, CD79B, CDC73, CDH1, CDK12, CDK4, CDK6, CDK8, CDKN1A, CDKN1B, CDKN2A, CDKN2B, CDKN2C, CEBPA, CENPA, CHD2, CHD4, CHEK1, CHEK2, CIC, CREBBP, CRKL, CRLF2, CSF1R, CSF3R, CSNK1A1, CTCF, CTLA4, CTNNA1, CTNNB1, CUL3, CUX1, CXCR4, CYLD, DAXX, DCUN1D1, DDR2, DDX41, DHX15, DICER1, DIS3, DNAJB1, DNMT1, DNMT3A, DNMT3B, DOT1L, E2F3, EED, EGFL7, EGFR, EIF1AX, EIF4A2, EIF4E, EML4, EP300, EPCAM, EPHA3, EPHA5, EPHA7, EPHB1, ERBB2, ERBB3, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERG, ERRFI1, ESR1, ETS1, ETV1, ETV4, ETV5, ETV6, EWSR1, EZH2, FAM123B, FAM175A, FAM46C, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FAS, FAT1, FBXW7, FGF1, FGF10, FGF14, FGF19, FGF2, FGF23, FGF3, FGF4, FGF5, FGF6, FGF7, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FGFR4, FH, FLCN, FLI1, FLT1, FLT3, FLT4, FOXA1, FOXL2, FOXO1, FOXP1, FRS2, FUBP1, FYN, GABRA6, GATA1, GATA2, GATA3, GATA4, GATA6, GEN1, GID4, GLI1, GNA11, GNA13, GNAQ, GNAS, GPR124, GPS2, GREM1, GRIN2A, GRM3, GSK3B, H3F3A, H3F3B, H3F3C, HGF, HIST1H1C, HIST1H2BD, HIST1H3A, HIST1H3B, HIST1H3C, HIST1H3D, HIST1H3E, HIST1H3F, HIST1H3G, HIST1H3H, HIST1H3I, HIST1H3J, HIST2H3A, HIST2H3C, HIST2H3D, HIST3H3, HLA-A, HLA-B, HLA-C, HNF1A, HNRNPK, HOXB13, HRAS, HSD3B1, HSP90AA1, ICOSLG, ID3, IDH1, IDH2, IFNGR1, IGF1, IGF1R, IGF2, IKBKE, IKZF1, IL10, IL7R, INHA, INHBA, INPP4A, INPP4B, INSR, IRF2, IRF4, IRS1, IRS2, JAK1, JAK2, JAK3, JUN, KAT6A, KDM5A, KDM5C, KDM6A, KDR, KEAP1, KEL, KIF5B, KIT, KLF4, KLHL6, KMT2B, KMT2C, KMT2D, KRAS, LAMP1, LATS1, LATS2, LMO1, LRP1B, LYN, LZTR1, MAGI2, MALT1, MAP2K1, MAP2K2, MAP2K4, MAP3K1, MAP3K13, MAP3K14, MAP3K4, MAPK1, MAPK3, MAX, MCL1, MDC1, MDM2, MDM4, MED12, MEF2B, MEN1, MET, MGA, MITF, MLH1, MLL, MLLT3, MPL, MRE11A, MSH2, MSH3, MSH6, MST1, MST1R, MTOR, MUTYH, MYB, MYC, MYCL, MYCN, MYD88, MYOD1, NAB2, NBN, NCOA3, NCOR1, NEGR1, NF1, NF2, NFE2L2, NFKBIA, NKX2-1, NKX3-1, NOTCH1, NOTCH2, NOTCH3, NOTCH4, NPM1, NRAS, NRG1, NSD1, NTRK1, NTRK2, NTRK3, NUP93, NUTM1, PAK1, PAK3, PAK7, PALB2, PARK2, PARP1, PAX3, PAX5, PAX7, PAX8, PBRM1, PDCD1, PDCD1LG2, PDGFRA, PDGFRB, PDK1, PDPK1, PGR, PHF6, PHOX2B, PIK3C2B, PIK3C2G, PIK3C3, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIK3R3, PIM1, PLCG2, PLK2, PMAIP1, PMS1, PMS2, PNRC1, POLD1, POLE, PPARG, PPM1D, PPP2R1A, PPP2R2A, PPP6C, PRDM1, PREX2, PRKAR1A, PRKCI, PRKDC, PRSS8, PTCH1, PTEN, PTPN11, PTPRD, PTPRS, PTPRT, QKI, RAB35, RAC1, RAD21, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD52, RAD54L, RAF1, RANBP2, RARA, RASA1, RB1, RBM10, RECQL4, REL, RET, RFWD2, RHEB, RHOA, RICTOR, RIT1, RNF43, ROS1, RPS6KA4, RPS6KB1, RPS6KB2, RPTOR, RUNX1, RUNX1T1, RYBP, SDHA, SDHAF2, SDHB, SDHC, SDHD, SETBP1, SETD2, SF3B1, SH2B3, SH2D1A, SHQ1, SLIT2, SLX4, SMAD2, SMAD3, SMAD4, SMARCA4, SMARCB1, SMARCD1, SMC1A, SMC3, SMO, SNCAIP, SOCS1, SOX10, SOX17, SOX2, SOX9, SPEN, SPOP, SPTA1, SRC, SRSF2, STAG1, STAG2, STAT3, STAT4, STAT5A, STAT5B, STK11, STK40, SUFU, SUZ12, SYK, TAF1, TBX3, TCEB1, TCF3, TCF7L2, TERC, TERT, TET1, TET2, TFE3, TFRC, TGFBR1, TGFBR2, TMEM127, TMPRSS2, TNFAIP3, TNFRSF14, TOP1, TOP2A, TP53, TP63, TRAF2, TRAF7, TSC1, TSC2, TSHR, U2AF1, VEGFA, VHL, VTCN1, WISP3, WT1, XIAP, XPO1, XRCC2, YAP1, YES1, ZBTB2, ZBTB7A, ZFHX3, ZNF217, ZNF703, ZRSR2

檢測方法

1. 採取周邊靜脈血液或石蠟包埋組織檢體進行DNA純化。
2. 將純化後DNA製備成DNA基因庫，並利用次世代定序技術得到DNA核酸序列。
3. 透過生物資訊方法對所得到的DNA核酸序列進行BRCA1/2序列分析，比對已知資料庫，以評估是否帶有有害之基因突變。
4. 個工作天完成報告。

聲明

1. 此份檢驗報告僅為針對本次檢體的篩驗結果，由於並未取得檢驗實驗室的書面同意，因此本檢驗報告不應被局部複製，但全份複製除外。

2. 此份檢驗報告顯示之變異基因，為經過TIER篩選之結果，欲檢視所有變異基因，請參閱report/*_somatic.dbnsfp.vcf_full_anno.txt之內容。

參考文獻

SampleName	R1	R2	Group
Tso_normal	raw/Tso_normal_R1.fastq.gz	raw/Tso_normal_R2.fastq.gz	normal
Tso_tumor	raw/Tso_tumor_R1.fastq.gz	raw/Tso_tumor_R2.fastq.gz	tumor