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 FBXO44 93611 broad.mit.edu 37 1 11716012 11716012 + Silent SNP C C A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr1:11716012C>A uc001asm.2 + 2 246 c.120C>A c.(118-120)CTC>CTA p.L40L FBXO2_uc001asj.2_5'Flank|FBXO2_uc009vna.2_5'Flank|FBXO2_uc009vnb.1_5'Flank|FBXO44_uc001ask.2_Silent_p.L40L|FBXO44_uc010oaq.1_Silent_p.L40L|FBXO44_uc001asl.2_Silent_p.L40L|FBXO44_uc001asn.2_Silent_p.L40L|FBXO44_uc010oar.1_Silent_p.L40L|FBXO44_uc010oas.1_5'UTR NM_033182 NP_149438 Q9H4M3 FBX44_HUMAN F-box protein 44 isoform 1 40 F-box. protein catabolic process SCF ubiquitin ligase complex protein binding ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) GGCGGGACCTCATCGACCTCG 0.632000 PRAMEF12 390999 broad.mit.edu 37 1 12836227 12836227 + Missense_Mutation SNP T T A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr1:12836227T>A uc001aui.2 + 2 856 c.829T>A c.(829-831)TCT>ACT p.S277T NM_001080830 NP_001074299 O95522 PRA12_HUMAN PRAME family member 12 277 ovary(3) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCACTCTGTCTCTTTCCTCGA 0.498000 YIPF1 54432 broad.mit.edu 37 1 54348919 54348919 + Missense_Mutation SNP G G T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr1:54348919G>T uc001cvu.2 - 4 399 c.62C>A c.(61-63)GCA>GAA p.A21E YIPF1_uc001cvv.2_RNA|YIPF1_uc001cvw.2_RNA|YIPF1_uc001cvx.2_RNA|YIPF1_uc001cvy.2_RNA NM_018982 NP_061855 Q9Y548 YIPF1_HUMAN Yip1 domain family, member 1 21 Cytoplasmic (Potential). integral to membrane|transport vesicle large_intestine(1)|ovary(1) 2 ATCTGGGTTTGCTGTCAGAGA 0.453000 KCNA3 3738 broad.mit.edu 37 1 111217025 111217025 + Missense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr1:111217025C>T uc001dzv.1 - 1 631 c.407G>A c.(406-408)CGC>CAC p.R136H NM_002232 NP_002223 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related 136 voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(4)|pancreas(1) 5 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACCTCATGCGCCGCTTGGG 0.642000 SPAG17 200162 broad.mit.edu 37 1 118616478 118616478 + Missense_Mutation SNP T T C TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr1:118616478T>C uc001ehk.2 - 17 2452 c.2384A>G c.(2383-2385)CAG>CGG p.Q795R NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 795 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CATAAATACCTGAAGCAGTAC 0.239000 FLG 2312 broad.mit.edu 37 1 152282723 152282723 + Missense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr1:152282723C>T uc001ezu.1 - 3 4675 c.4639G>A c.(4639-4641)GAG>AAG p.E1547K NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1547 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GATTGTTCCTCATTTCTTGTT 0.587000 Ichthyosis PIK3C2B 5287 broad.mit.edu 37 1 204433201 204433201 + Missense_Mutation SNP T T C TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr1:204433201T>C uc001haw.2 - 6 1728 c.1249A>G c.(1249-1251)AGG>GGG p.R417G PIK3C2B_uc010pqv.1_Missense_Mutation_p.R417G|PIK3C2B_uc001hax.1_Missense_Mutation_p.R417G|PIK3C2B_uc009xbd.1_RNA NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 417 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) TCCACATTCCTCAGGTCATCA 0.547000 OBSCN 84033 broad.mit.edu 37 1 228399516 228399516 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr1:228399516G>A uc009xez.1 + 2 76 c.32G>A c.(31-33)CGC>CAC p.R11H OBSCN_uc001hsn.2_Missense_Mutation_p.R11H|uc001hsm.1_Intron NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 11 Ig-like 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GGGGCGCCCCGCTTTCTCACC 0.662000 NSUN6 221078 broad.mit.edu 37 10 18835004 18835004 + Missense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr10:18835004C>T uc010qcp.1 - 11 1686 c.1268G>A c.(1267-1269)CGA>CAA p.R423Q NSUN6_uc001iqb.2_5'Flank NM_182543 NP_872349 Q8TEA1 NSUN6_HUMAN NOL1/NOP2/Sun domain family, member 6 423 methyltransferase activity|RNA binding ovary(2) 2 TGGATCAAATCGCTGCAGCTG 0.488000 ZNF488 118738 broad.mit.edu 37 10 48371149 48371149 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr10:48371149G>A uc001jex.2 + 2 779 c.617G>A c.(616-618)CGA>CAA p.R206Q ZNF488_uc001jey.2_Missense_Mutation_p.R99Q NM_153034 NP_694579 Q96MN9 ZN488_HUMAN zinc finger protein 488 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGTTGGGGTCGACTTTCAACT 0.537000 CDH23 64072 broad.mit.edu 37 10 73270759 73270759 + Splice_Site SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr10:73270759G>A uc001jrx.3 + 5 713 c.336_splice c.e5+1 p.G112_splice CDH23_uc001jrw.3_Splice_Site_p.G112_splice|CDH23_uc001jrv.2_Splice_Site_p.G107_splice|CDH23_uc009xql.2_Splice_Site_p.G157_splice NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 CCACCAGGGGGTGAGTGTTCC 0.602000 ZNF511 118472 broad.mit.edu 37 10 135123307 135123307 + Silent SNP C C G TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr10:135123307C>G uc001lml.1 + 3 280 c.255C>G c.(253-255)GCC>GCG p.A85A TUBGCP2_uc001lmg.1_5'Flank|TUBGCP2_uc010qvc.1_5'Flank|TUBGCP2_uc009ybk.1_5'Flank|TUBGCP2_uc010qvd.1_5'Flank|TUBGCP2_uc001lmh.1_Intron|ZNF511_uc001lmj.1_Silent_p.A85A|ZNF511_uc001lmk.1_Silent_p.A85A|ZNF511_uc001lmm.1_RNA Q8NB15 ZN511_HUMAN SubName: Full=cDNA FLJ78327; SubName: Full=Zinc finger protein 511, isoform CRA_d; 85 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06) GCCAGGTGGCCGGCTGCTGCC 0.617000 PRB3 5544 broad.mit.edu 37 12 11420535 11420535 + Missense_Mutation SNP T T G TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr12:11420535T>G uc001qzs.2 - 3 686 c.648A>C c.(646-648)CAA>CAC p.Q216H PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 216 10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|8.|Pro-rich. Missing (in allele S). extracellular region Gram-negative bacterial cell surface binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.201) GTGGGGGACCTTGGGACTGGT 0.622000 NAV3 89795 broad.mit.edu 37 12 78444643 78444643 + Missense_Mutation SNP G G T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr12:78444643G>T uc001syp.2 + 11 2405 c.2232G>T c.(2230-2232)TTG>TTT p.L744F NAV3_uc001syo.2_Missense_Mutation_p.L744F|NAV3_uc010sub.1_Missense_Mutation_p.L244F NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 744 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CCTGGAGGTTGGGCCAGGCAT 0.572000 HNSCC(70;0.22) SOS2 6655 broad.mit.edu 37 14 50666457 50666457 + Missense_Mutation SNP A A T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr14:50666457A>T uc001wxs.3 - 4 560 c.462T>A c.(460-462)CAT>CAA p.H154Q SOS2_uc010tql.1_Missense_Mutation_p.H154Q NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 154 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2) 2 all_epithelial(31;0.000822)|Breast(41;0.0065) ATATTTCATAATGCCGGATAT 0.318000 PTGDR 5729 broad.mit.edu 37 14 52734889 52734889 + Silent SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr14:52734889G>A uc001wzq.2 + 1 459 c.357G>A c.(355-357)TCG>TCA p.S119S NM_000953 NP_000944 Q13258 PD2R_HUMAN prostaglandin D2 receptor 119 Helical; Name=3; (Potential). integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) GGCTCTCCTCGACACTGCAAC 0.617000 TP53BP1 7158 broad.mit.edu 37 15 43748491 43748491 + Missense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr15:43748491C>T uc001zrs.2 - 12 2448 c.2300G>A c.(2299-2301)AGA>AAA p.R767K TP53BP1_uc010udp.1_Missense_Mutation_p.R767K|TP53BP1_uc001zrq.3_Missense_Mutation_p.R772K|TP53BP1_uc001zrr.3_Missense_Mutation_p.R772K|TP53BP1_uc010udq.1_Missense_Mutation_p.R772K NM_005657 NP_005648 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 isoform 3 767 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1) 7 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) AACATCAACTCTGGGAGATGG 0.453000 Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes SLC24A5 283652 broad.mit.edu 37 15 48429089 48429089 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr15:48429089G>A uc001zwe.2 + 6 873 c.800G>A c.(799-801)GGA>GAA p.G267E SLC24A5_uc010bel.2_Missense_Mutation_p.G207E|uc001zwf.1_5'Flank NM_205850 NP_995322 Q71RS6 NCKX5_HUMAN solute carrier family 24, member 5 precursor 267 Cytoplasmic (Potential). response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity 0 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) ACTGATAGTGGAATATTTTAT 0.413000 PIGW 284098 broad.mit.edu 37 17 34893858 34893858 + Missense_Mutation SNP G G T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr17:34893858G>T uc002hmy.1 + 2 951 c.908G>T c.(907-909)CGC>CTC p.R303L MYO19_uc010cuu.2_5'Flank|MYO19_uc010wcy.1_5'Flank|MYO19_uc010wcz.1_5'Flank|MYO19_uc010wda.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_Missense_Mutation_p.R303L NM_178517 NP_848612 Q7Z7B1 PIGW_HUMAN phosphatidylinositol glycan, class W 303 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane O-acyltransferase activity 0 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AATGCCAACCGCGAAGGAATA 0.433000 KRT31 3881 broad.mit.edu 37 17 39553526 39553526 + Missense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr17:39553526C>T uc002hwn.2 - 1 319 c.266G>A c.(265-267)CGG>CAG p.R89Q KRT31_uc010cxn.2_Missense_Mutation_p.R89Q NM_002277 NP_002268 Q15323 K1H1_HUMAN keratin 31 89 Coil 1A.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton 0 Breast(137;0.000496) AGACCGCTCCCGGATGAGGTT 0.587000 LAMA1 284217 broad.mit.edu 37 18 7011407 7011407 + Silent SNP C C G TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr18:7011407C>G uc002knm.2 - 25 3673 c.3579G>C c.(3577-3579)GGG>GGC p.G1193G LAMA1_uc010wzj.1_Silent_p.G669G NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 1193 Laminin IV type A 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGTAGTAAACCCCCTCGGTCG 0.607000 ANKRD12 23253 broad.mit.edu 37 18 9204526 9204526 + Silent SNP T T G TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr18:9204526T>G uc002knv.2 + 4 545 c.288T>G c.(286-288)TCT>TCG p.S96S ANKRD12_uc010wzn.1_Silent_p.S96S|ANKRD12_uc002knw.2_Intron|ANKRD12_uc002knx.2_Intron NM_015208 NP_056023 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 isoform 1 96 nucleus ovary(2)|central_nervous_system(1) 3 TTATATCTTCTTACAGGACAT 0.373000 RNF165 494470 broad.mit.edu 37 18 44013236 44013236 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr18:44013236G>A uc002lcb.1 + 2 196 c.145G>A c.(145-147)GCT>ACT p.A49T RNF165_uc002lby.1_5'UTR|RNF165_uc010dnn.1_Intron NM_152470 NP_689683 Q6ZSG1 RN165_HUMAN ring finger protein 165 49 zinc ion binding 0 READ - Rectum adenocarcinoma(1;0.0873) GCAGCAGCTCGCTCCCGACTT 0.706000 CCBE1 147372 broad.mit.edu 37 18 57107014 57107014 + Silent SNP G G A rs151243930 TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr18:57107014G>A uc002lib.2 - 8 880 c.810C>T c.(808-810)CCC>CCT p.P270P CCBE1_uc010dpq.2_Intron|CCBE1_uc002lia.2_Silent_p.P123P NM_133459 NP_597716 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 270 Collagen-like 1. lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding skin(2)|ovary(1) 3 Colorectal(73;0.175) CTGGCATACCGGGGAAGCCTG 0.602000 APBA3 9546 broad.mit.edu 37 19 3752514 3752514 + Missense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr19:3752514C>T uc002lyp.1 - 8 1564 c.1387G>A c.(1387-1389)GCT>ACT p.A463T APBA3_uc002lyo.1_Missense_Mutation_p.A221T NM_004886 NP_004877 O96018 APBA3_HUMAN amyloid beta (A4) precursor protein-binding, 463 PDZ 1. intracellular signal transduction|protein transport intracellular|membrane protein binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18) ACGCGGACAGCGGCCTGGCAC 0.716000 MAP2K7 5609 broad.mit.edu 37 19 7977041 7977041 + Missense_Mutation SNP A A G TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr19:7977041A>G uc002mit.2 + 10 1152 c.1087A>G c.(1087-1089)AAA>GAA p.K363E MAP2K7_uc002miv.2_Missense_Mutation_p.K370E|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.K370E|MAP2K7_uc010dvv.2_Missense_Mutation_p.K238E NM_145185 NP_660186 O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 363 Protein kinase. activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1) 11 Etoposide(DB00773) TAGCCTTACTAAAGATCACAG 0.602000 FBXL12 54850 broad.mit.edu 37 19 9922033 9922033 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr19:9922033G>A uc002mme.2 - 3 762 c.520C>T c.(520-522)CGC>TGC p.R174C FBXL12_uc002mmd.2_Missense_Mutation_p.R121C|FBXL12_uc002mmf.2_Missense_Mutation_p.R121C|FBXL12_uc002mmg.2_Missense_Mutation_p.R121C|FBXL12_uc002mmh.2_Missense_Mutation_p.R121C NM_017703 NP_060173 Q9NXK8 FXL12_HUMAN F-box and leucine-rich repeat protein 12 174 LRR 4. protein binding lung(1)|kidney(1) 2 GCCCGGAAGCGCGTCAGGCCC 0.667000 TSHZ3 57616 broad.mit.edu 37 19 31769921 31769921 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr19:31769921G>A uc002nsy.3 - 2 843 c.778C>T c.(778-780)CGC>TGC p.R260C NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 260 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) AGCAAGGAGCGTTTGCGAGGC 0.557000 LRFN3 79414 broad.mit.edu 37 19 36431169 36431169 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr19:36431169G>A uc002oco.2 + 2 1294 c.842G>A c.(841-843)CGC>CAC p.R281H NM_024509 NP_078785 Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III 281 LRRCT.|Extracellular (Potential). cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane 0 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CTGGGCGGCCGCTACTTCTGG 0.721000 SIGLEC10 89790 broad.mit.edu 37 19 51920084 51920084 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr19:51920084G>A uc002pwo.2 - 3 1158 c.542C>T c.(541-543)ACG>ATG p.T181M SIGLEC10_uc002pwp.2_Intron|SIGLEC10_uc002pwq.2_Intron|SIGLEC10_uc002pwr.2_Missense_Mutation_p.T181M|SIGLEC10_uc010ycy.1_Missense_Mutation_p.T181M|SIGLEC10_uc010ycz.1_Intron|SIGLEC10_uc010eow.2_Translation_Start_Site|SIGLEC10_uc002pws.1_Intron NM_033130 NP_149121 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 precursor 181 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding skin(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GGCAGCCCCCGTCCAGGAGAA 0.612000 ZNF835 90485 broad.mit.edu 37 19 57175776 57175776 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr19:57175776G>A uc010ygo.1 - 2 857 c.857C>T c.(856-858)GCG>GTG p.A286V ZNF835_uc010ygn.1_Missense_Mutation_p.A264V NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 GCGGATGAGCGCTGAGGAGAA 0.672000 ZNF418 147686 broad.mit.edu 37 19 58438782 58438782 + Missense_Mutation SNP C C A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr19:58438782C>A uc002qqs.1 - 4 1059 c.767G>T c.(766-768)AGA>ATA p.R256I ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.R171I NM_133460 NP_597717 Q8TF45 ZN418_HUMAN zinc finger protein 418 256 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) TTCATAAGGTCTTTTCCCAGT 0.423000 LTBP1 4052 broad.mit.edu 37 2 33246091 33246091 + Silent SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr2:33246091G>A uc002ros.2 + 3 681 c.681G>A c.(679-681)TCG>TCA p.S227S NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 227 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) AGGACACCTCGTCACCAGTCT 0.552000 EIF2AK2 5610 broad.mit.edu 37 2 37365428 37365428 + Missense_Mutation SNP A A C TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr2:37365428A>C uc010ynh.1 - 8 1229 c.672T>G c.(670-672)AGT>AGG p.S224R EIF2AK2_uc010fab.1_Missense_Mutation_p.S224R|EIF2AK2_uc010yng.1_Missense_Mutation_p.S224R|EIF2AK2_uc010fac.2_Missense_Mutation_p.S224R|EIF2AK2_uc010fad.2_Missense_Mutation_p.S224R NM_002759 NP_002750 P19525 E2AK2_HUMAN eukaryotic translation initiation factor 2-alpha 224 evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle cytosol ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity ovary(2)|lung(2)|pancreas(1) 5 all_hematologic(82;0.248) GCAACGAAGAACTGTTTAAAC 0.363000 GPR75 10936 broad.mit.edu 37 2 54080761 54080761 + Missense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr2:54080761C>T uc002rxo.3 - 2 1404 c.1133G>A c.(1132-1134)CGG>CAG p.R378Q ASB3_uc002rxi.3_Intron NM_006794 NP_006785 O95800 GPR75_HUMAN G protein-coupled receptor 75 378 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(1)|skin(1) 2 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TGCACTGTTCCGAGAATATAT 0.423000 COBLL1 22837 broad.mit.edu 37 2 165584554 165584554 + Nonsense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr2:165584554G>A uc010zcw.1 - 6 869 c.745C>T c.(745-747)CAG>TAG p.Q249* COBLL1_uc002ucp.2_Nonsense_Mutation_p.Q196*|COBLL1_uc002ucq.2_Nonsense_Mutation_p.Q196*|COBLL1_uc010zcx.1_Nonsense_Mutation_p.Q242*|COBLL1_uc002ucs.1_RNA NM_014900 NP_055715 Q53SF7 COBL1_HUMAN COBL-like 1 234 ovary(2)|pancreas(1) 3 AGAGGCTCCTGCGATTGATAA 0.378000 TTN 7273 broad.mit.edu 37 2 179418418 179418418 + Missense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr2:179418418C>T uc010zfg.1 - 283 81834 c.81610G>A c.(81610-81612)GAG>AAG p.E27204K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E20899K|TTN_uc010zfi.1_Missense_Mutation_p.E20832K|TTN_uc010zfj.1_Missense_Mutation_p.E20707K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 28131 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTCTTATCTCGACAACATAC 0.463000 TTN 7273 broad.mit.edu 37 2 179659907 179659907 + Missense_Mutation SNP C C G TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr2:179659907C>G uc010zfg.1 - 7 1211 c.987G>C c.(985-987)AAG>AAC p.K329N TTN_uc010zfh.1_Missense_Mutation_p.K329N|TTN_uc010zfi.1_Missense_Mutation_p.K329N|TTN_uc010zfj.1_Missense_Mutation_p.K329N|TTN_uc002unb.2_Missense_Mutation_p.K329N|TTN_uc010frg.1_Missense_Mutation_p.K3N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 329 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGCCTGAGTCTTACGCATGA 0.547000 DYTN 391475 broad.mit.edu 37 2 207528029 207528029 + Nonsense_Mutation SNP C C A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr2:207528029C>A uc002vbr.1 - 11 1348 c.1231G>T c.(1231-1233)GGA>TGA p.G411* NM_001093730 NP_001087199 A2CJ06 DYTN_HUMAN dystrotelin 411 plasma membrane zinc ion binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) TAATCCCCTCCCTTTGGAACC 0.473000 SPEG 10290 broad.mit.edu 37 2 220353344 220353344 + Silent SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr2:220353344C>T uc010fwg.2 + 33 7983 c.7983C>T c.(7981-7983)AAC>AAT p.N2661N NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 2661 Ig-like 9. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CGGCCACCAACGTACTGGGCA 0.667000 KIAA1486 57624 broad.mit.edu 37 2 226447619 226447619 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr2:226447619G>A uc002voe.2 + 4 1661 c.1486G>A c.(1486-1488)GGG>AGG p.G496R KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.G266R NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 496 ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) GAACACCTACGGGGCAGCCCC 0.687000 COL4A3 1285 broad.mit.edu 37 2 228124582 228124582 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr2:228124582G>A uc002vom.1 + 19 1265 c.1103G>A c.(1102-1104)CGT>CAT p.R368H COL4A3_uc002von.1_Missense_Mutation_p.R368H|COL4A3_uc002voo.1_Missense_Mutation_p.R368H|COL4A3_uc002vop.1_Missense_Mutation_p.R368H|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 368 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) AGAGGAGCTCGTGGCCCACAA 0.418000 ARMC9 80210 broad.mit.edu 37 2 232100085 232100085 + Silent SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr2:232100085C>T uc002vrq.3 + 8 883 c.771C>T c.(769-771)AGC>AGT p.S257S ARMC9_uc002vrp.3_Silent_p.S257S NM_025139 NP_079415 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 257 binding ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) CCACAGTCAGCGGCAAGATGG 0.483000 STK4 6789 broad.mit.edu 37 20 43625835 43625835 + Missense_Mutation SNP C C G TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr20:43625835C>G uc002xnb.2 + 7 809 c.719C>G c.(718-720)CCT>CGT p.P240R STK4_uc010ggx.2_Missense_Mutation_p.P240R|STK4_uc010ggy.2_Missense_Mutation_p.P185R|STK4_uc010ggw.1_Missense_Mutation_p.P240R NM_006282 NP_006273 Q13043 STK4_HUMAN serine/threonine kinase 4 240 Protein kinase. apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation cytoplasm|nucleus ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding ovary(1)|skin(1) 2 Myeloproliferative disorder(115;0.0122) CCTACAAATCCTCCTCCCACA 0.388000 TH1L 51497 broad.mit.edu 37 20 57561860 57561860 + Missense_Mutation SNP A A C TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr20:57561860A>C uc002yag.2 + 3 282 c.255A>C c.(253-255)GAA>GAC p.E85D TH1L_uc010zzu.1_Missense_Mutation_p.E85D|TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Missense_Mutation_p.E85D NM_198976 NP_945327 Q8IXH7 NELFD_HUMAN TH1-like protein 85 negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_lung(29;0.00711) Colorectal(105;0.109) TCTTATCTGAAAACTACACCG 0.507000 PRPF6 24148 broad.mit.edu 37 20 62657327 62657327 + Silent SNP C C T rs151332876 by1000genomes TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr20:62657327C>T uc002yho.2 + 15 2112 c.1944C>T c.(1942-1944)GCC>GCT p.A648A PRPF6_uc002yhp.2_Intron NM_012469 NP_036601 O94906 PRP6_HUMAN PRP6 pre-mRNA processing factor 6 homolog 648 HAT 6. assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity ovary(2) 2 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) GGCTGGCAGCCGTGAAGCTGG 0.647000 CECR2 27443 broad.mit.edu 37 22 17983950 17983950 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr22:17983950G>A uc010gqw.1 + 6 772 c.646G>A c.(646-648)GAG>AAG p.E216K CECR2_uc010gqv.1_Missense_Mutation_p.E95K|CECR2_uc002zml.2_Missense_Mutation_p.E95K|CECR2_uc002zmm.1_Missense_Mutation_p.E95K NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 258 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) ACAGGTCACCGAGAGTTTTCG 0.542000 BSN 8927 broad.mit.edu 37 3 49680049 49680049 + Missense_Mutation SNP A A C TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr3:49680049A>C uc003cxe.3 + 3 1096 c.982A>C c.(982-984)AGT>CGT p.S328R NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 328 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CCCGGCCAAAAGTGCCACCGC 0.672000 ERC2 26059 broad.mit.edu 37 3 56207483 56207483 + Silent SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr3:56207483G>A uc003dhr.1 - 4 1396 c.1140C>T c.(1138-1140)ATC>ATT p.I380I NM_015576 NP_056391 O15083 ERC2_HUMAN cytomatrix protein p110 380 Potential. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CCTTCATTTCGATGACAGTCT 0.468000 ANK2 287 broad.mit.edu 37 4 114264209 114264209 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr4:114264209G>A uc003ibe.3 + 34 4259 c.4159G>A c.(4159-4161)GGC>AGC p.G1387S ANK2_uc003ibd.3_Missense_Mutation_p.G1378S|ANK2_uc003ibf.3_Missense_Mutation_p.G1387S|ANK2_uc011cgc.1_Missense_Mutation_p.G563S|ANK2_uc003ibg.3_Missense_Mutation_p.G382S|ANK2_uc003ibh.3_Missense_Mutation_p.G61S|ANK2_uc011cgb.1_Missense_Mutation_p.G1402S NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1354 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TGATTGTTTCGGCAACTTGGT 0.338000 PCDHA7 56141 broad.mit.edu 37 5 140215213 140215213 + Silent SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr5:140215213C>T uc003lhq.2 + 1 1245 c.1245C>T c.(1243-1245)CGC>CGT p.R415R PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.R415R NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 415 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTGGACCGCGAGAGTGTGT 0.617000 PCDHGB4 8641 broad.mit.edu 37 5 140769318 140769318 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr5:140769318G>A uc003lkc.1 + 1 1867 c.1867G>A c.(1867-1869)GAA>AAA p.E623K PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.E623K NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 623 Extracellular (Potential).|Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCACGGGCGAAGTGCGCAC 0.697000 GRIA1 2890 broad.mit.edu 37 5 153077664 153077664 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr5:153077664G>A uc003lva.3 + 9 1560 c.1195G>A c.(1195-1197)GGC>AGC p.G399S GRIA1_uc003luy.3_Missense_Mutation_p.G399S|GRIA1_uc003luz.3_Missense_Mutation_p.G304S|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.G319S|GRIA1_uc011dcx.1_Missense_Mutation_p.G330S|GRIA1_uc011dcy.1_Missense_Mutation_p.G409S|GRIA1_uc011dcz.1_Missense_Mutation_p.G409S|GRIA1_uc010jia.1_Missense_Mutation_p.G379S NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 399 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CCAAGCTGGGGGCGATAATTC 0.478000 DOCK2 1794 broad.mit.edu 37 5 169435708 169435708 + Missense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr5:169435708C>T uc003maf.2 + 32 3270 c.3190C>T c.(3190-3192)CGG>TGG p.R1064W DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.R556W NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1064 Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGACATGAGACGGCTAATTGG 0.483000 ABCC10 89845 broad.mit.edu 37 6 43406375 43406375 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr6:43406375G>A uc003ouy.1 + 8 2184 c.1969G>A c.(1969-1971)GTG>ATG p.V657M ABCC10_uc003ouz.1_Missense_Mutation_p.V629M|ABCC10_uc010jyo.1_Translation_Start_Site NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 657 ABC transporter 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GCGTGGGCATGTGGCAGTGCG 0.612000 STYXL1 51657 broad.mit.edu 37 7 75643121 75643121 + Missense_Mutation SNP T T C TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr7:75643121T>C uc003uej.3 - 5 565 c.392A>G c.(391-393)TAT>TGT p.Y131C STYXL1_uc011kgf.1_Intron|STYXL1_uc011kgg.1_5'UTR|STYXL1_uc003ueh.2_Intron|STYXL1_uc003uek.3_Intron|STYXL1_uc003uel.2_Missense_Mutation_p.Y131C|STYXL1_uc003uem.2_Missense_Mutation_p.Y131C|STYXL1_uc010ldg.1_Intron|STYXL1_uc010ldh.1_Missense_Mutation_p.Y131C|STYXL1_uc003uen.1_Missense_Mutation_p.Y131C NM_016086 NP_057170 Q9Y6J8 STYL1_HUMAN map kinase phosphatase-like protein MK-STYX 131 Rhodanese. intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity 0 GAAGCGCTCATAGCCCCCTTT 0.582000 LRRN3 54674 broad.mit.edu 37 7 110764041 110764041 + Nonsense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr7:110764041C>T uc003vft.3 + 4 2259 c.1213C>T c.(1213-1215)CAG>TAG p.Q405* IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Nonsense_Mutation_p.Q405*|LRRN3_uc003vfs.3_Nonsense_Mutation_p.Q405* NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 405 Extracellular (Potential).|LRRCT. integral to membrane skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1) 8 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) ATTCCAAGGTCAGAATGTTCG 0.448000 SLC13A1 6561 broad.mit.edu 37 7 122765622 122765622 + Splice_Site SNP C C A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr7:122765622C>A uc003vkm.2 - 11 1265 c.1240_splice c.e11+1 p.V414_splice SLC13A1_uc010lks.2_Splice_Site_p.V290_splice NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate integral to membrane|plasma membrane sodium:sulfate symporter activity ovary(2) 2 Succinic acid(DB00139) TGATACTCAACCAATTTCTCC 0.358000 BLK 640 broad.mit.edu 37 8 11400775 11400775 + Silent SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr8:11400775G>A uc003wty.2 + 2 623 c.42G>A c.(40-42)CCG>CCA p.P14P BLK_uc003wtz.2_Intron NM_001715 NP_001706 P51451 BLK_HUMAN B lymphoid tyrosine kinase 14 intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity large_intestine(1)|stomach(1)|ovary(1) 3 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) AGGAAAAGCCGATCAAAGAGA 0.607000 PXDNL 137902 broad.mit.edu 37 8 52322023 52322023 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr8:52322023G>A uc003xqu.3 - 17 2262 c.2161C>T c.(2161-2163)CGG>TGG p.R721W PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 721 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TGGAAACACCGGTTGGAGCAG 0.632000 RGS20 8601 broad.mit.edu 37 8 54871000 54871000 + Missense_Mutation SNP G G T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr8:54871000G>T uc003xrp.2 + 6 1241 c.1149G>T c.(1147-1149)GAG>GAT p.E383D RGS20_uc003xrq.2_Missense_Mutation_p.E268D|RGS20_uc010lye.2_Missense_Mutation_p.E175D|RGS20_uc010lyf.2_Missense_Mutation_p.E147D|RGS20_uc003xrs.2_Missense_Mutation_p.E236D|RGS20_uc003xrt.2_Missense_Mutation_p.E117D NM_170587 NP_733466 O76081 RGS20_HUMAN regulator of G-protein signaling 20 isoform a 383 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|nucleus|plasma membrane GTPase activator activity|protein binding|signal transducer activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009) CCTTATCGGAGAAATCTATTG 0.343000 TG 7038 broad.mit.edu 37 8 133925324 133925324 + Missense_Mutation SNP C C T rs140482581 byFrequency TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr8:133925324C>T uc003ytw.2 + 20 4233 c.4192C>T c.(4192-4194)CGC>TGC p.R1398C TG_uc010mdw.2_Missense_Mutation_p.R157C NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 1398 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TCTCCTTGGGCGCTTCACAGA 0.552000 CER1 9350 broad.mit.edu 37 9 14720143 14720143 + Missense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr9:14720143C>T uc003zlj.2 - 2 794 c.749G>A c.(748-750)GGA>GAA p.G250E NM_005454 NP_005445 O95813 CER1_HUMAN cerberus 1 precursor 250 BMP signaling pathway extracellular space cytokine activity 0 GBM - Glioblastoma multiforme(50;3.16e-06) TAGGATGTGTCCATCTTCATG 0.493000 TRIM32 22954 broad.mit.edu 37 9 119461675 119461675 + Missense_Mutation SNP A A T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr9:119461675A>T uc004bjx.2 + 2 1812 c.1654A>T c.(1654-1656)ATT>TTT p.I552F ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.I552F NM_001099679 NP_001093149 Q13049 TRI32_HUMAN tripartite motif-containing 32 552 fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV nucleus myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|kidney(1) 3 TGGCTTTTCCATTGGCTCTGT 0.562000 Bardet-Biedl_syndrome CACNA1B 774 broad.mit.edu 37 9 140773594 140773594 + Missense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr9:140773594C>T uc004cog.2 + 2 518 c.373C>T c.(373-375)CCC>TCC p.P125S uc004cof.1_Intron NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 125 I.|Extracellular (Potential). membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GGACAAAACGCCCATGTCCGA 0.612000 MAGEB1 4112 broad.mit.edu 37 X 30269612 30269612 + Silent SNP G G A rs148758545 byFrequency TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chrX:30269612G>A uc004dcc.2 + 4 1322 c.1002G>A c.(1000-1002)GCG>GCA p.A334A MAGEB1_uc004dcd.2_Silent_p.A334A|MAGEB1_uc004dce.2_Silent_p.A334A NM_002363 NP_002354 P43366 MAGB1_HUMAN melanoma antigen family B, 1 334 0 CTTTTAGAGCGCGTTCTAGAG 0.507000 PCDH11X 27328 broad.mit.edu 37 X 91132884 91132884 + Missense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chrX:91132884C>T uc004efk.1 + 2 2490 c.1645C>T c.(1645-1647)CCC>TCC p.P549S PCDH11X_uc004efl.1_Missense_Mutation_p.P549S|PCDH11X_uc004efo.1_Missense_Mutation_p.P549S|PCDH11X_uc010nmv.1_Missense_Mutation_p.P549S|PCDH11X_uc004efm.1_Missense_Mutation_p.P549S|PCDH11X_uc004efn.1_Missense_Mutation_p.P549S|PCDH11X_uc004efh.1_Missense_Mutation_p.P549S|PCDH11X_uc004efj.1_Missense_Mutation_p.P549S NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 549 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CGGGGTACCACCCTTAACCAG 0.378000 ATG4A 115201 broad.mit.edu 37 X 107381208 107381208 + Missense_Mutation SNP T T C TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chrX:107381208T>C uc004enr.2 + 8 845 c.722T>C c.(721-723)GTT>GCT p.V241A ATG4A_uc004ent.2_Intron|ATG4A_uc004ens.2_Missense_Mutation_p.V157A|ATG4A_uc011msl.1_Intron|ATG4A_uc010npi.2_RNA|ATG4A_uc004enu.2_Missense_Mutation_p.V157A NM_052936 NP_443168 Q8WYN0 ATG4A_HUMAN autophagy-related cysteine endopeptidase 2 241 autophagy|protein transport|proteolysis cytoplasm cysteine-type peptidase activity pancreas(1) 1 CCTGTCTATGTTGATGCATTC 0.532000 SLITRK2 84631 broad.mit.edu 37 X 144904988 144904988 + Nonsense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chrX:144904988C>T uc004fcd.2 + 5 2035 c.1045C>T c.(1045-1047)CAG>TAG p.Q349* SLITRK2_uc010nsp.2_Nonsense_Mutation_p.Q349*|SLITRK2_uc010nso.2_Nonsense_Mutation_p.Q349*|SLITRK2_uc011mwq.1_Nonsense_Mutation_p.Q349*|SLITRK2_uc011mwr.1_Nonsense_Mutation_p.Q349*|SLITRK2_uc011mws.1_Nonsense_Mutation_p.Q349*|SLITRK2_uc004fcg.2_Nonsense_Mutation_p.Q349*|SLITRK2_uc011mwt.1_Nonsense_Mutation_p.Q349* NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 349 Extracellular (Potential).|LRRNT. integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) CTGCACCTCTCAGAGCTCAGA 0.498000 KIAA1109 84162 broad.mit.edu 37 4 123236709 123236720 + In_Frame_Del DEL AATGCTCTGGGC AATGCTCTGGGC - TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr4:123236708_123236719TAATGCTCTGGGC>T uc003ieh.3 + 58 10449_10460 c.10404_10415TAATGCTCTGGGC>T c.(10402-10416)cttaatgctctgggc>ctTc p.NALG3469del KIAA1109_uc003iel.1_In_Frame_Del_p.NALG1404del NM_015312 NP_056127 Q2LD37 K1109_HUMAN Homo sapiens KIAA1109 (KIAA1109), mRNA. 3469 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GCAAAAGGCTTAATGCTCTGGGCAATACTCTT 0.415 NTF3 4908 broad.mit.edu 37 12 5603609 5603610 + Frame_Shift_Ins INS - - C TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr12:5603608_5603609G>GC uc001qnl.4 + 0 311_312 c.228_229G>GC c.(226-231)gggcccfs p.G76fs NTF3_uc001qnk.4_Frame_Shift_Ins_p.G89fs NM_002527 NP_002518 P20783 NTF3_HUMAN Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA. 76 G -> E (in dbSNP:rs1805149). signal transduction extracellular region growth factor activity|neurotrophin receptor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 AGCGGGGAGGGCCCGCCAAGTC 0.579 PLA2G1B 5319 broad.mit.edu 37 12 120763700 120763701 + Frame_Shift_Ins INS - - CA rs78096484 TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr12:120763699_120763700C>CCA uc001tyd.3 - 1 194_195 c.158_159G>TGG c.(157-159)ttgfs p.L53fs PLA2G1B_uc009zwx.3_Frame_Shift_Ins_p.L53fs NM_000928 NP_000919 P04054 PA21B_HUMAN Homo sapiens phospholipase A2, group IB (pancreas) (PLA2G1B), mRNA. 53 actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of DNA replication|positive regulation of NF-kappaB transcription factor activity|positive regulation of calcium ion transport into cytosol|positive regulation of immune response|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter extracellular space bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding endometrium(1)|large_intestine(1)|lung(3)|skin(2) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTGAGCCCCCCAAGCCACAGTA 0.614 OREG0022189 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) BZRAP1 9256 broad.mit.edu 37 17 56386384 56386385 + Frame_Shift_Ins INS - - T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr17:56386383_56386384C>CT uc002ivx.4 - 21 5120_5121 c.4249_4250G>AG c.(4249-4251)agcfs p.S1417fs BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 1417 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCGCCTGCGGCTTGGGGGCTTC 0.653 MYT1 4661 broad.mit.edu 37 20 62839435 62839440 + In_Frame_Del DEL GAGGAA GAGGAA - rs143133195 byFrequency TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 g.chr20:62839434_62839439GGAGGAA>G uc002yii.3 + 6 1249_1254 c.885_890GGAGGAA>G c.(883-891)gaggaggaa>gaGa p.295_297EEE>E MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR NM_004535 NP_004526 Q01538 MYT1_HUMAN Homo sapiens myelin transcription factor 1 (MYT1), mRNA. 295 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E295K(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) aggaagaggaggaggaagaggaagag 0.583