Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut NGFRAP1 27018 broad.mit.edu 37 X 102632596 102632596 + Silent SNP G G C TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chrX:102632596G>C uc004eki.3 + 2 559 c.177G>C c.(175-177)ggG>ggC p.G59G NGFRAP1_uc004ekh.3_Silent_p.G49G|NGFRAP1_uc004ekj.1_Silent_p.G59G NM_206915 NP_996800 Q00994 BEX3_HUMAN Homo sapiens nerve growth factor receptor (TNFRSF16) associated protein 1 (NGFRAP1), transcript variant 2, mRNA. 59 apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway cytosol|nucleus caspase regulator activity|metal ion binding p.G59A(3)|p.G59G(2) NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1) 10 TCAATGATGGGATGGGTGGAG 0.502000 10 243 0 0 1 0 0 FKBPL 63943 broad.mit.edu 37 6 32096729 32096729 + Missense_Mutation SNP G G C TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr6:32096729G>C uc003nzr.3 - 1 1099 c.829C>G c.(829-831)Cgg>Ggg p.R277G ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Missense_Mutation_p.R277G NM_022110 NP_071393 Q9UIM3 FKBPL_HUMAN Homo sapiens FK506 binding protein like (FKBPL), mRNA. 277 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity TCCAACACCCGGTCACAGCTC 0.592000 9 83 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22383218 22383218 + Missense_Mutation SNP T T C TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr15:22383218T>C uc001yuc.1 + 6 1727 c.746T>C c.(745-747)cTt>cCt p.L249P abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Missense_Mutation_p.L249P NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA. 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ATTATACTTCTTATGTTTGGA 0.468000 4 209 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43607566 43607566 + Silent SNP C C A TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr10:43607566C>A uc001jal.3 + 7 1732 c.1542C>A c.(1540-1542)ggC>ggA p.G514G RET_uc001jak.1_Silent_p.G514G|RET_uc010qez.1_Silent_p.G260G NM_020975 NP_066124 P07949 RET_HUMAN Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA. 514 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity p.A513G(1) CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) AGGAGGCGGGCTGCCCCCTGT 0.662000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 3 6 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117815662 117815662 + Silent SNP T T C TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chrX:117815662T>C uc004eqp.2 + 50 5931 c.5868T>C c.(5866-5868)aaT>aaC p.N1956N DOCK11_uc004eqq.2_Silent_p.N1735N NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA. 1956 DHR-2. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 TATAGGTCAATGCTGGTCCAT 0.338000 21 106 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63477091 63477091 + Missense_Mutation SNP G G A TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr18:63477091G>A uc002ljz.3 + 2 687 c.362G>A c.(361-363)cGa>cAa p.R121Q CDH7_uc002lka.3_Missense_Mutation_p.R121Q|CDH7_uc002lkb.3_Missense_Mutation_p.R121Q NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN Homo sapiens cadherin 7, type 2 (CDH7), transcript variant a, mRNA. 121 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R121L(3)|p.R121*(1) NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) TACACGCTCCGAGCTCAAGCG 0.493000 7 55 0 0 1 0 0 CERS6 253782 broad.mit.edu 37 2 169547576 169547576 + Missense_Mutation SNP G G C TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr2:169547576G>C uc002uec.1 + 4 622 c.498G>C c.(496-498)tgG>tgC p.W166C CERS6_uc002ueb.1_Missense_Mutation_p.W166C NM_203463 NP_982288 Q6ZMG9 CERS6_HUMAN Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA. 166 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity GGCATTGCTGGTACAACTACC 0.388000 3 96 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196964999 196964999 + Nonsense_Mutation SNP G G T TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr1:196964999G>T uc001gts.4 + 4 888 c.760G>T c.(760-762)Gga>Tga p.G254* NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN Homo sapiens complement factor H-related 5 (CFHR5), mRNA. 254 Sushi 4. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 ATGTGTGGATGGAGAATGGAC 0.308000 4 37 0 0 1 0 0 ADCY3 109 broad.mit.edu 37 2 25061434 25061434 + Missense_Mutation SNP C C A TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr2:25061434C>A uc010ykm.2 - 6 1612 c.1413G>T c.(1411-1413)gaG>gaT p.E471D ADCY3_uc002rfr.4_Missense_Mutation_p.E104D|ADCY3_uc002rfs.4_Missense_Mutation_p.E471D NM_004036 NP_004027 O60266 ADCY3_HUMAN Homo sapiens adenylate cyclase 3 (ADCY3), mRNA. 471 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) CATCGCCTGGCTCCACATCAA 0.577000 5 149 0 0 1 0 0 THOC1 9984 broad.mit.edu 37 18 246403 246403 + Missense_Mutation SNP T T C TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr18:246403T>C uc002kkj.4 - 10 879 c.839A>G c.(838-840)cAg>cGg p.Q280R THOC1_uc002kkl.2_Missense_Mutation_p.Q280R NM_005131 NP_005122 Q96FV9 THOC1_HUMAN Homo sapiens THO complex 1 (THOC1), mRNA. 280 RNA splicing|apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|signal transduction|transcription, DNA-dependent THO complex part of transcription export complex|cytoplasm|nuclear matrix|nuclear speck DNA binding|RNA binding|protein binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 20 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) TCTTGAGGCCTGAGTATCATC 0.269000 3 61 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr1:115256529T>C uc009wgu.3 - 2 436 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 60 109 0 0 1 0 0 KLHL13 90293 broad.mit.edu 37 X 117053625 117053625 + Silent SNP G G A rs75572880 TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chrX:117053625G>A uc011mtp.2 - 4 571 c.438C>T c.(436-438)gtC>gtT p.V146V KLHL13_uc004eqk.3_Silent_p.V92V|KLHL13_uc004eql.3_Silent_p.V143V|KLHL13_uc011mtn.2_Intron|KLHL13_uc011mto.2_Silent_p.V137V|KLHL13_uc011mtq.2_Silent_p.V127V|KLHL13_uc004eqm.3_Silent_p.V101V|KLHL13_uc022cde.1_Silent_p.V127V NM_001168299 NP_001161775 Q9P2N7 KLH13_HUMAN Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA. 143 BTB. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 TCCTTAGACCGACTTTGCTCA 0.343000 4 78 0 0 1 0 0 LPAR4 2846 broad.mit.edu 37 X 78010703 78010703 + Missense_Mutation SNP A A G TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chrX:78010703A>G uc010nme.3 + 1 742 c.337A>G c.(337-339)Atc>Gtc p.I113V LPAR4_uc022bzj.1_Missense_Mutation_p.I113V NM_005296 NP_005287 Q99677 LPAR4_HUMAN Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA. 113 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 CCTCTGCAAGATCTCTGGAAC 0.428000 4 148 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167142878 167142878 + Missense_Mutation SNP C C T TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr2:167142878C>T uc010fpl.3 - 10 1911 c.1570G>A c.(1570-1572)Gca>Aca p.A524T BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.A395T|SCN9A_uc002uds.1_Missense_Mutation_p.A395T|SCN9A_uc002udt.1_Missense_Mutation_p.A395T NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 524 voltage-gated sodium channel complex voltage-gated sodium channel activity p.R523L(1) NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TTTTCATGTGCTCGCCTATGC 0.443000 12 263 0 0 1 0 0 GTF2F2 2963 broad.mit.edu 37 13 45725876 45725876 + Missense_Mutation SNP C C T TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr13:45725876C>T uc001uzw.3 + 3 374 c.214C>T c.(214-216)Cca>Tca p.P72S NM_004128 NP_004119 P13984 T2FB_HUMAN Homo sapiens general transcription factor IIF, polypeptide 2, 30kDa (GTF2F2), mRNA. 72 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction microtubule cytoskeleton|transcription factor TFIIF complex ATP binding|ATP-dependent helicase activity|DNA binding|protein binding breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1) 10 Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000647) TGGTGGAAAACCAGCTTCAGT 0.378000 4 82 0 0 1 0 0 WNT5B 81029 broad.mit.edu 37 12 1741882 1741882 + Missense_Mutation SNP G G A rs138238149 byFrequency TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr12:1741882G>A uc009zdq.3 + 2 381 c.139G>A c.(139-141)Gtg>Atg p.V47M WNT5B_uc001qjj.3_Missense_Mutation_p.V47M|WNT5B_uc001qjk.3_Missense_Mutation_p.V47M|WNT5B_uc001qjl.3_Missense_Mutation_p.V47M NM_032642 NP_116031 Q9H1J7 WNT5B_HUMAN Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA. 47 Wnt receptor signaling pathway, calcium modulating pathway|angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding skin(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00109) TGCCCAGCCCGTGTGCAGTCA 0.567000 19 120 0 0 1 0 0 FKRP 79147 broad.mit.edu 37 19 47259967 47259967 + Missense_Mutation SNP C C G TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr19:47259967C>G uc002pfn.2 + 3 1557 c.1260C>G c.(1258-1260)ttC>ttG p.F420L FKRP_uc002pfp.2_Missense_Mutation_p.F420L|FKRP_uc021uwj.1_Missense_Mutation_p.F420L NM_024301 NP_077277 Q9H9S5 FKRP_HUMAN Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA. 420 Golgi apparatus|extracellular space|rough endoplasmic reticulum|sarcolemma transferase activity NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336) TGTGGCCCTTCTACCCCCGCA 0.627000 2 13 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88965206 88965206 + Silent SNP A A G TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c 2e89408c-689f-4e09-8292-78cc6a46dbc4 g.chr7:88965206A>G uc011khi.2 + 3 3448 c.2910A>G c.(2908-2910)tcA>tcG p.S970S NM_181646 NP_857597 A4D1E1 Z804B_HUMAN Homo sapiens zinc finger protein 804B (ZNF804B), mRNA. 970 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TTGCACCATCAGGCTGTAACA 0.408000 HNSCC(36;0.09) 3 98 0 0 1 0 0 FKBPL 63943 broad.mit.edu 37 6 32096729 32096729 + Missense_Mutation SNP G G C TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr6:32096729G>C uc003nzr.3 - 1 1099 c.829C>G c.(829-831)Cgg>Ggg p.R277G ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Missense_Mutation_p.R277G NM_022110 NP_071393 Q9UIM3 FKBPL_HUMAN Homo sapiens FK506 binding protein like (FKBPL), mRNA. 277 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity TCCAACACCCGGTCACAGCTC 0.592000 9 83 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22383218 22383218 + Missense_Mutation SNP T T C TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr15:22383218T>C uc001yuc.1 + 6 1727 c.746T>C c.(745-747)cTt>cCt p.L249P abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Missense_Mutation_p.L249P NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA. 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ATTATACTTCTTATGTTTGGA 0.468000 4 209 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117815662 117815662 + Silent SNP T T C TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chrX:117815662T>C uc004eqp.2 + 50 5931 c.5868T>C c.(5866-5868)aaT>aaC p.N1956N DOCK11_uc004eqq.2_Silent_p.N1735N NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA. 1956 DHR-2. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 TATAGGTCAATGCTGGTCCAT 0.338000 21 106 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63477091 63477091 + Missense_Mutation SNP G G A TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr18:63477091G>A uc002ljz.3 + 2 687 c.362G>A c.(361-363)cGa>cAa p.R121Q CDH7_uc002lka.3_Missense_Mutation_p.R121Q|CDH7_uc002lkb.3_Missense_Mutation_p.R121Q NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN Homo sapiens cadherin 7, type 2 (CDH7), transcript variant a, mRNA. 121 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R121L(3)|p.R121*(1) NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) TACACGCTCCGAGCTCAAGCG 0.493000 7 55 0 0 1 0 0 CERS6 253782 broad.mit.edu 37 2 169547576 169547576 + Missense_Mutation SNP G G C TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr2:169547576G>C uc002uec.1 + 4 622 c.498G>C c.(496-498)tgG>tgC p.W166C CERS6_uc002ueb.1_Missense_Mutation_p.W166C NM_203463 NP_982288 Q6ZMG9 CERS6_HUMAN Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA. 166 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity GGCATTGCTGGTACAACTACC 0.388000 3 96 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196964999 196964999 + Nonsense_Mutation SNP G G T TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr1:196964999G>T uc001gts.4 + 4 888 c.760G>T c.(760-762)Gga>Tga p.G254* NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN Homo sapiens complement factor H-related 5 (CFHR5), mRNA. 254 Sushi 4. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 ATGTGTGGATGGAGAATGGAC 0.308000 4 37 0 0 1 0 0 NGFRAP1 27018 broad.mit.edu 37 X 102632596 102632596 + Silent SNP G G C TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chrX:102632596G>C uc004eki.3 + 2 559 c.177G>C c.(175-177)ggG>ggC p.G59G NGFRAP1_uc004ekh.3_Silent_p.G49G|NGFRAP1_uc004ekj.1_Silent_p.G59G NM_206915 NP_996800 Q00994 BEX3_HUMAN Homo sapiens nerve growth factor receptor (TNFRSF16) associated protein 1 (NGFRAP1), transcript variant 2, mRNA. 59 apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway cytosol|nucleus caspase regulator activity|metal ion binding p.G59A(3)|p.G59G(2) NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1) 10 TCAATGATGGGATGGGTGGAG 0.502000 10 243 0 0 1 0 0 THOC1 9984 broad.mit.edu 37 18 246403 246403 + Missense_Mutation SNP T T C TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr18:246403T>C uc002kkj.4 - 10 879 c.839A>G c.(838-840)cAg>cGg p.Q280R THOC1_uc002kkl.2_Missense_Mutation_p.Q280R NM_005131 NP_005122 Q96FV9 THOC1_HUMAN Homo sapiens THO complex 1 (THOC1), mRNA. 280 RNA splicing|apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|signal transduction|transcription, DNA-dependent THO complex part of transcription export complex|cytoplasm|nuclear matrix|nuclear speck DNA binding|RNA binding|protein binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 20 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) TCTTGAGGCCTGAGTATCATC 0.269000 3 61 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr1:115256529T>C uc009wgu.3 - 2 436 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 60 109 0 0 1 0 0 KLHL13 90293 broad.mit.edu 37 X 117053625 117053625 + Silent SNP G G A rs75572880 TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chrX:117053625G>A uc011mtp.2 - 4 571 c.438C>T c.(436-438)gtC>gtT p.V146V KLHL13_uc004eqk.3_Silent_p.V92V|KLHL13_uc004eql.3_Silent_p.V143V|KLHL13_uc011mtn.2_Intron|KLHL13_uc011mto.2_Silent_p.V137V|KLHL13_uc011mtq.2_Silent_p.V127V|KLHL13_uc004eqm.3_Silent_p.V101V|KLHL13_uc022cde.1_Silent_p.V127V NM_001168299 NP_001161775 Q9P2N7 KLH13_HUMAN Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA. 143 BTB. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 TCCTTAGACCGACTTTGCTCA 0.343000 4 78 0 0 1 0 0 LPAR4 2846 broad.mit.edu 37 X 78010703 78010703 + Missense_Mutation SNP A A G TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chrX:78010703A>G uc010nme.3 + 1 742 c.337A>G c.(337-339)Atc>Gtc p.I113V LPAR4_uc022bzj.1_Missense_Mutation_p.I113V NM_005296 NP_005287 Q99677 LPAR4_HUMAN Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA. 113 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 CCTCTGCAAGATCTCTGGAAC 0.428000 4 148 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167142878 167142878 + Missense_Mutation SNP C C T TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr2:167142878C>T uc010fpl.3 - 10 1911 c.1570G>A c.(1570-1572)Gca>Aca p.A524T BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.A395T|SCN9A_uc002uds.1_Missense_Mutation_p.A395T|SCN9A_uc002udt.1_Missense_Mutation_p.A395T NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 524 voltage-gated sodium channel complex voltage-gated sodium channel activity p.R523L(1) NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TTTTCATGTGCTCGCCTATGC 0.443000 12 263 0 0 1 0 0 GTF2F2 2963 broad.mit.edu 37 13 45725876 45725876 + Missense_Mutation SNP C C T TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr13:45725876C>T uc001uzw.3 + 3 374 c.214C>T c.(214-216)Cca>Tca p.P72S NM_004128 NP_004119 P13984 T2FB_HUMAN Homo sapiens general transcription factor IIF, polypeptide 2, 30kDa (GTF2F2), mRNA. 72 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction microtubule cytoskeleton|transcription factor TFIIF complex ATP binding|ATP-dependent helicase activity|DNA binding|protein binding breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1) 10 Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000647) TGGTGGAAAACCAGCTTCAGT 0.378000 4 82 0 0 1 0 0 WNT5B 81029 broad.mit.edu 37 12 1741882 1741882 + Missense_Mutation SNP G G A rs138238149 byFrequency TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr12:1741882G>A uc009zdq.3 + 2 381 c.139G>A c.(139-141)Gtg>Atg p.V47M WNT5B_uc001qjj.3_Missense_Mutation_p.V47M|WNT5B_uc001qjk.3_Missense_Mutation_p.V47M|WNT5B_uc001qjl.3_Missense_Mutation_p.V47M NM_032642 NP_116031 Q9H1J7 WNT5B_HUMAN Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA. 47 Wnt receptor signaling pathway, calcium modulating pathway|angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding skin(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00109) TGCCCAGCCCGTGTGCAGTCA 0.567000 19 120 0 0 1 0 0 FKRP 79147 broad.mit.edu 37 19 47259967 47259967 + Missense_Mutation SNP C C G TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr19:47259967C>G uc002pfn.2 + 3 1557 c.1260C>G c.(1258-1260)ttC>ttG p.F420L FKRP_uc002pfp.2_Missense_Mutation_p.F420L|FKRP_uc021uwj.1_Missense_Mutation_p.F420L NM_024301 NP_077277 Q9H9S5 FKRP_HUMAN Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA. 420 Golgi apparatus|extracellular space|rough endoplasmic reticulum|sarcolemma transferase activity NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336) TGTGGCCCTTCTACCCCCGCA 0.627000 2 13 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88965206 88965206 + Silent SNP A A G TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr7:88965206A>G uc011khi.2 + 3 3448 c.2910A>G c.(2908-2910)tcA>tcG p.S970S NM_181646 NP_857597 A4D1E1 Z804B_HUMAN Homo sapiens zinc finger protein 804B (ZNF804B), mRNA. 970 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TTGCACCATCAGGCTGTAACA 0.408000 HNSCC(36;0.09) 3 98 0 0 1 0 0 MGC20647 0 broad.mit.edu 37 22 30642618 30642618 + Frame_Shift_Del DEL G G - TCGA-BJ-A2N8-01A-11D-A18F-08 TCGA-BJ-A2N8-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 123a6737-d478-4f9a-b1a2-1302105e1c5c bf79058f-56e5-4464-bf25-2cf994aa3f45 g.chr22:30642618delG uc003aha.3 + 0 420 c.127delG c.(127-129)gcgfs p.A43fs LIF_uc003agz.2_Intron|LIF_uc011aks.1_Intron Homo sapiens hypothetical protein MGC20647, mRNA (cDNA clone IMAGE:3355596), partial cds. AGTTGCCGCCGCGCCCCGCAG 0.711 2 4 --- --- --- ---