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_status validation_method validation_tumor_sample validation_alt_allele filter TNFRSF1B 7133 broad.mit.edu 37 1 12251959 12251959 + Missense_Mutation SNP G C C TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr1:12251959G>C uc001att.2 + 4 525 c.436G>C c.(436-438)GGC>CGC p.G146R TNFRSF1B_uc001atu.2_5'UTR|TNFRSF1B_uc009vnk.2_RNA NM_001066 NP_001057 P20333 TNR1B_HUMAN tumor necrosis factor receptor 2 precursor 146 TNFR-Cys 3.|Extracellular (Potential). apoptosis extracellular region|integral to membrane|membrane raft|plasma membrane tumor necrosis factor receptor activity liver(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.249) Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284) Etanercept(DB00005)|Infliximab(DB00065) GTGCCGCCCGGGCTTCGGCGT 0.682 20 26 --- --- --- --- PASS ZSWIM5 57643 broad.mit.edu 37 1 45484275 45484275 + Missense_Mutation SNP C G G TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr1:45484275C>G uc001cnd.2 - 14 3637 c.3409G>C c.(3409-3411)GAG>CAG p.E1137Q NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN zinc finger, SWIM domain containing 5 1137 zinc ion binding 0 Acute lymphoblastic leukemia(166;0.155) TCAATGAACTCTCCATAGTGG 0.517 OREG0013450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 123 164 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103491792 103491792 + Missense_Mutation SNP C G G TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr1:103491792C>G uc001dul.2 - 6 1195 c.877G>C c.(877-879)GAG>CAG p.E293Q COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Intron|COL11A1_uc001dun.2_Intron|COL11A1_uc009weh.2_Missense_Mutation_p.E293Q NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 293 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GCTATTGTCTCCTCAGTTACA 0.448 60 129 --- --- --- --- PASS GON4L 54856 broad.mit.edu 37 1 155764901 155764901 + Nonsense_Mutation SNP C A A TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr1:155764901C>A uc001flz.2 - 12 1784 c.1687G>T c.(1687-1689)GAA>TAA p.E563* GON4L_uc001fly.1_Nonsense_Mutation_p.E563*|GON4L_uc009wrh.1_Nonsense_Mutation_p.E563*|GON4L_uc001fma.1_Nonsense_Mutation_p.E563*|GON4L_uc001fmc.2_Nonsense_Mutation_p.E563*|GON4L_uc001fmd.3_Nonsense_Mutation_p.E563*|GON4L_uc009wri.2_Nonsense_Mutation_p.E149*|GON4L_uc009wrj.1_Nonsense_Mutation_p.E78*|GON4L_uc001fme.2_Nonsense_Mutation_p.E391*|GON4L_uc001fmf.2_Nonsense_Mutation_p.E257* NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN gon-4-like isoform a 563 Asp-rich. regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(3) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TCGAGGTCTTCCAGGAAATTA 0.413 79 95 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158597502 158597502 + Missense_Mutation SNP C T T TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr1:158597502C>T uc001fst.1 - 40 5776 c.5577G>A c.(5575-5577)ATG>ATA p.M1859I NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1859 Spectrin 18. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CTTCATGCTTCATTAGCAAGC 0.398 21 188 --- --- --- --- PASS IFI16 3428 broad.mit.edu 37 1 159002320 159002320 + Nonsense_Mutation SNP A T T TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr1:159002320A>T uc001ftg.2 + 7 1458 c.1168A>T c.(1168-1170)AAA>TAA p.K390* IFI16_uc010pis.1_Nonsense_Mutation_p.K334*|IFI16_uc001fth.2_5'UTR|IFI16_uc010pit.1_5'UTR NM_005531 NP_005522 Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 390 cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) TCAGATAAAGAAAAAAACAAA 0.378 35 27 --- --- --- --- PASS KLHDC9 126823 broad.mit.edu 37 1 161069480 161069480 + Silent SNP G C C TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr1:161069480G>C uc001fxr.2 + 3 952 c.780G>C c.(778-780)CGG>CGC p.R260R KLHDC9_uc001fxq.2_Silent_p.R22R|KLHDC9_uc001fxs.2_Missense_Mutation_p.A267P NM_152366 NP_689579 Q8NEP7 KLDC9_HUMAN kelch/ankyrin repeat containing cyclin A1 260 0 all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) ATGGACTACGGCATCACTCAT 0.542 179 250 --- --- --- --- PASS SMG7 9887 broad.mit.edu 37 1 183514079 183514079 + Missense_Mutation SNP A T T TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr1:183514079A>T uc001gqg.2 + 16 2124 c.2002A>T c.(2002-2004)ACA>TCA p.T668S SMG7_uc010pob.1_Missense_Mutation_p.T651S|SMG7_uc001gqf.2_Missense_Mutation_p.T622S|SMG7_uc001gqh.2_Missense_Mutation_p.T622S|SMG7_uc001gqi.2_Missense_Mutation_p.T580S|SMG7_uc010poc.1_Missense_Mutation_p.T626S NM_173156 NP_775179 Q92540 SMG7_HUMAN SMG-7 homolog isoform 1 668 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TCCGCCCCCAACATATGTTAT 0.433 115 146 --- --- --- --- PASS SRGAP2 23380 broad.mit.edu 37 1 206619562 206619562 + Silent SNP C T T TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr1:206619562C>T uc001hdy.2 + 15 2088 c.1755C>T c.(1753-1755)ATC>ATT p.I585I SRGAP2_uc010prt.1_Silent_p.I508I|SRGAP2_uc001hdx.2_Silent_p.I585I|SRGAP2_uc010pru.1_Silent_p.I508I|SRGAP2_uc010prv.1_Silent_p.I509I NM_015326 NP_056141 O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 672 Rho-GAP. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding 0 Breast(84;0.137) AAACCATCATCATCCAGCATG 0.587 153 195 --- --- --- --- PASS MOSC1 64757 broad.mit.edu 37 1 220960480 220960480 + Missense_Mutation SNP C T T TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr1:220960480C>T uc001hms.2 + 1 442 c.194C>T c.(193-195)CCT>CTT p.P65L MOSC1_uc001hmt.2_Missense_Mutation_p.P65L NM_022746 NP_073583 Q5VT66 MOSC1_HUMAN MOCO sulphurase C-terminal domain containing 1 65 molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding 0 GBM - Glioblastoma multiforme(131;0.0358) TGGATCTACCCTGTGAAATCC 0.741 4 3 --- --- --- --- PASS DNAH6 1768 broad.mit.edu 37 2 84804425 84804425 + Missense_Mutation SNP C T T TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr2:84804425C>T uc010fgb.2 + 13 2106 c.1969C>T c.(1969-1971)CAC>TAC p.H657Y DNAH6_uc002soo.2_Missense_Mutation_p.H236Y|DNAH6_uc002sop.2_Missense_Mutation_p.H236Y NM_001370 NP_001361 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy polypeptide 6 657 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity central_nervous_system(1) 1 TCACAAACAGCACAAGGACGC 0.333 27 33 --- --- --- --- PASS REV1 51455 broad.mit.edu 37 2 100055628 100055628 + Silent SNP C T T TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr2:100055628C>T uc002tad.2 - 6 860 c.648G>A c.(646-648)CCG>CCA p.P216P REV1_uc002tac.2_Silent_p.P216P|REV1_uc002tae.1_Silent_p.P195P NM_016316 NP_057400 Q9UBZ9 REV1_HUMAN REV1-like isoform 1 216 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding ovary(2) 2 CTCTGGGATGCGGAATTCCAT 0.448 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 4 115 --- --- --- --- PASS RAF1 5894 broad.mit.edu 37 3 12653511 12653511 + Silent SNP G C C TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr3:12653511G>C uc003bxf.3 - 3 673 c.258C>G c.(256-258)CTC>CTG p.L86L RAF1_uc011aut.1_5'Flank|RAF1_uc011auu.1_Intron NM_002880 NP_002871 P04049 RAF1_HUMAN v-raf-1 murine leukemia viral oncogene homolog 86 RBD. activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity ESRP1/RAF1(4)|SRGAP3/RAF1(4) central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1) 14 Sorafenib(DB00398) CCCTCACCTTGAGTGCTTTCA 0.483 T SRGAP3 pilocytic astrocytoma Noonan_syndrome 151 186 --- --- --- --- PASS DHX30 22907 broad.mit.edu 37 3 47884701 47884701 + Missense_Mutation SNP G C C TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr3:47884701G>C uc003cru.2 + 9 1321 c.895G>C c.(895-897)GAG>CAG p.E299Q DHX30_uc003crt.2_Missense_Mutation_p.E260Q|DHX30_uc010hjr.1_Missense_Mutation_p.E327Q NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 30 299 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) CCGCAAAGCAGAGGCTGAGAA 0.567 73 90 --- --- --- --- PASS MAP4 4134 broad.mit.edu 37 3 47958284 47958284 + Missense_Mutation SNP C T T TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr3:47958284C>T uc003csb.2 - 7 1559 c.1033G>A c.(1033-1035)GCC>ACC p.A345T MAP4_uc003csc.3_Missense_Mutation_p.A345T|MAP4_uc011bbf.1_Missense_Mutation_p.A322T|MAP4_uc003csf.3_Missense_Mutation_p.A362T NM_002375 NP_002366 P27816 MAP4_HUMAN microtubule-associated protein 4 isoform 1 345 7.|17 X 14 AA tandem repeats. negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) ACATCCTTGGCTGGGGCTACC 0.473 216 275 --- --- --- --- PASS BAP1 8314 broad.mit.edu 37 3 52440372 52440372 + Missense_Mutation SNP C T T TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr3:52440372C>T uc003ddx.2 - 9 795 c.680G>A c.(679-681)CGC>CAC p.R227H BAP1_uc003ddw.2_5'Flank|BAP1_uc010hmg.2_5'Flank|BAP1_uc010hmh.2_5'Flank NM_004656 NP_004647 Q92560 BAP1_HUMAN BRCA1 associated protein-1 227 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.R227C(1) pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1) 65 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) CAGGTTGAAGCGGATGTCGTG 0.627 N|Mis|F|S|O uveal melanoma|breast|NSCLC 22 23 --- --- --- --- PASS HLTF 6596 broad.mit.edu 37 3 148777580 148777580 + Missense_Mutation SNP C A A TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr3:148777580C>A uc003ewq.1 - 13 1518 c.1300G>T c.(1300-1302)GTT>TTT p.V434F HLTF_uc003ewr.1_Missense_Mutation_p.V434F|HLTF_uc003ews.1_Missense_Mutation_p.V433F|HLTF_uc010hve.1_Missense_Mutation_p.V433F NM_139048 NP_620636 Q14527 HLTF_HUMAN helicase-like transcription factor 434 chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TCTTCTATAACCTTAGAAGAT 0.318 69 118 --- --- --- --- PASS SLC33A1 9197 broad.mit.edu 37 3 155560270 155560270 + Missense_Mutation SNP A G G TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr3:155560270A>G uc003fan.3 - 2 1295 c.914T>C c.(913-915)ATA>ACA p.I305T SLC33A1_uc003fao.1_Missense_Mutation_p.I305T NM_004733 NP_004724 O00400 ACATN_HUMAN acetyl-coenzyme A transporter 305 Helical; (Potential). cell death|transmembrane transport endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity ovary(2)|large_intestine(1)|pancreas(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TGGCATTTTTATAATTGCAAA 0.313 55 57 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164767660 164767660 + Missense_Mutation SNP T C C TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr3:164767660T>C uc003fei.2 - 14 1578 c.1516A>G c.(1516-1518)ATG>GTG p.M506V NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 506 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ACTTCATTCATGTCCTGAATG 0.284 HNSCC(35;0.089) 59 82 --- --- --- --- PASS PIK3CA 5290 broad.mit.edu 37 3 178936070 178936070 + Missense_Mutation SNP G A A TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr3:178936070G>A uc003fjk.2 + 10 1769 c.1612G>A c.(1612-1614)GAT>AAT p.D538N NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 538 PI3K helical. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.D538G(1)|p.D538N(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TTCTACACGAGATCCTCTCTC 0.333 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 45 53 --- --- --- --- PASS PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G A A rs121913273 TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr3:178936082G>A uc003fjk.2 + 10 1781 c.1624G>A c.(1624-1626)GAA>AAA p.E542K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 542 PI3K helical. E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333 E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 48 60 --- --- --- --- PASS ATP13A5 344905 broad.mit.edu 37 3 193039551 193039551 + Nonsense_Mutation SNP G A A rs139981143 TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr3:193039551G>A uc011bsq.1 - 16 1834 c.1834C>T c.(1834-1836)CAG>TAG p.Q612* NM_198505 NP_940907 Q4VNC0 AT135_HUMAN ATPase type 13A5 612 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(5)|skin(4)|large_intestine(2) 11 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) CCAGCTAGCTGAGCGATCACG 0.502 61 72 --- --- --- --- PASS FGFR3 2261 broad.mit.edu 37 4 1803564 1803564 + Missense_Mutation SNP C T T rs121913482 TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr4:1803564C>T uc003gdr.3 + 7 998 c.742C>T c.(742-744)CGC>TGC p.R248C FGFR3_uc003gdu.2_Missense_Mutation_p.R248C|FGFR3_uc003gds.3_Missense_Mutation_p.R248C|FGFR3_uc003gdq.3_Missense_Mutation_p.R248C|FGFR3_uc010icb.1_Missense_Mutation_p.R90C|FGFR3_uc003gdt.1_Missense_Mutation_p.R90C NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 248 Extracellular (Potential). R -> C (in KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1; severe and lethal; also found as somatic mutation in one patient with multiple myeloma). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.R248C(291)|p.R248_S249insC(2)|p.R248_S249del(1) urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CCCCACAGAGCGCTCCCCGCA 0.567 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 8 6 --- --- --- --- PASS N4BP2 55728 broad.mit.edu 37 4 40122763 40122763 + Missense_Mutation SNP T C C TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr4:40122763T>C uc003guy.3 + 9 3370 c.3032T>C c.(3031-3033)GTA>GCA p.V1011A N4BP2_uc010ifq.2_Missense_Mutation_p.V931A|N4BP2_uc010ifr.2_Missense_Mutation_p.V931A NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 1011 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 GGAAAAGAAGTAGGCATGTGC 0.378 75 76 --- --- --- --- PASS ANKRD50 57182 broad.mit.edu 37 4 125593004 125593004 + Missense_Mutation SNP T C C TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr4:125593004T>C uc003ifg.3 - 3 1694 c.1428A>G c.(1426-1428)ATA>ATG p.I476M ANKRD50_uc011cgo.1_Missense_Mutation_p.I297M|ANKRD50_uc010inw.2_Missense_Mutation_p.I476M NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 476 central_nervous_system(1) 1 TACCATTCCATATCATCCACA 0.413 129 133 --- --- --- --- PASS FBXW7 55294 broad.mit.edu 37 4 153249384 153249384 + Missense_Mutation SNP C T T TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr4:153249384C>T uc003ims.2 - 9 1543 c.1394G>A c.(1393-1395)CGT>CAT p.R465H FBXW7_uc011cii.1_Missense_Mutation_p.R465H|FBXW7_uc003imt.2_Missense_Mutation_p.R465H|FBXW7_uc011cih.1_Missense_Mutation_p.R289H|FBXW7_uc003imq.2_Missense_Mutation_p.R385H|FBXW7_uc003imr.2_Missense_Mutation_p.R347H NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 465 WD 3. R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in a acute lymphoblastic leukemia cell line). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding p.R465C(52)|p.R465H(36)|p.R465L(2) haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) ATGCATACAACGCACAGTGGA 0.408 Mis|N|D|F colorectal|endometrial|T-ALL 168 235 --- --- --- --- PASS PCDHA8 56140 broad.mit.edu 37 5 140221266 140221266 + Silent SNP C T T TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr5:140221266C>T uc003lhs.2 + 1 360 c.360C>T c.(358-360)GAC>GAT p.D120D 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_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.D120D NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 120 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCATGTGGACGTGGAGGTGA 0.567 9 249 --- --- --- --- PASS NCR2 9436 broad.mit.edu 37 6 41304003 41304003 + Missense_Mutation SNP G C C TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr6:41304003G>C uc003oqh.2 + 2 318 c.231G>C c.(229-231)TGG>TGC p.W77C NCR2_uc003oqi.2_Missense_Mutation_p.W77C|NCR2_uc003oqj.2_Missense_Mutation_p.W77C NM_004828 NP_004819 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 77 Extracellular (Potential).|Ig-like. cellular defense response integral to plasma membrane transmembrane receptor activity ovary(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) CGATGGCTTGGACCTCTCGAT 0.527 63 57 --- --- --- --- PASS CUL9 23113 broad.mit.edu 37 6 43189468 43189468 + Silent SNP C G G TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr6:43189468C>G uc003ouk.2 + 35 6873 c.6798C>G c.(6796-6798)CTC>CTG p.L2266L CUL9_uc003oul.2_Silent_p.L2238L|CUL9_uc010jyk.2_Silent_p.L1418L|CUL9_uc003oun.2_Silent_p.L61L NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 2266 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 GGCGCTGCCTCAAGTCCTGGA 0.597 30 41 --- --- --- --- PASS DOPEY1 23033 broad.mit.edu 37 6 83863335 83863335 + Missense_Mutation SNP C G G TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr6:83863335C>G uc003pjs.1 + 31 6495 c.6235C>G c.(6235-6237)CAC>GAC p.H2079D DOPEY1_uc011dyy.1_Missense_Mutation_p.H2070D|DOPEY1_uc010kbl.1_Missense_Mutation_p.H2070D|DOPEY1_uc003pjt.2_RNA NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 2079 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) CCTCAGAAATCACAGGTACTA 0.303 51 89 --- --- --- --- PASS MOXD1 26002 broad.mit.edu 37 6 132693969 132693969 + Silent SNP G A A TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr6:132693969G>A uc003qdf.2 - 3 678 c.579C>T c.(577-579)GAC>GAT p.D193D MOXD1_uc003qde.2_Silent_p.D125D NM_015529 NP_056344 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 isoform 2 193 Lumenal (Potential). catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity ovary(1) 1 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) AAACACTTACGTCCTGATTTA 0.383 97 125 --- --- --- --- PASS TIAM2 26230 broad.mit.edu 37 6 155577835 155577835 + Silent SNP C T T TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr6:155577835C>T uc003qqb.2 + 29 5959 c.4686C>T c.(4684-4686)ATC>ATT p.I1562I TIAM2_uc003qqe.2_Silent_p.I1562I|TIAM2_uc010kjj.2_Silent_p.I1124I|TIAM2_uc003qqf.2_Silent_p.I938I|TIAM2_uc011efl.1_Silent_p.I906I|TIAM2_uc003qqg.2_Silent_p.I874I|TIAM2_uc003qqh.2_Silent_p.I487I|uc003qqi.1_RNA NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1562 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) ACAATCTCATCAAAGAGAGTG 0.552 43 53 --- --- --- --- PASS THBS2 7058 broad.mit.edu 37 6 169634881 169634881 + Nonsense_Mutation SNP G T T rs139787473 TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr6:169634881G>T uc003qwt.2 - 11 1847 c.1599C>A c.(1597-1599)TGC>TGA p.C533* NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 533 TSP type-1 3. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CATCCCCCACGCAGGCCTTCC 0.662 41 70 --- --- --- --- PASS MDH2 4191 broad.mit.edu 37 7 75689711 75689711 + Silent SNP C A A TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr7:75689711C>A uc003ueo.2 + 5 536 c.450C>A c.(448-450)ATC>ATA p.I150I MDH2_uc003uep.2_Silent_p.I43I|MDH2_uc011kgh.1_Intron NM_005918 NP_005909 P40926 MDHM_HUMAN mitochondrial malate dehydrogenase precursor 150 gluconeogenesis|malate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus|plasma membrane binding|L-malate dehydrogenase activity ovary(1)|central_nervous_system(1)|skin(1) 3 NADH(DB00157) CCATCCCCATCACAGCAGAAG 0.527 40 63 --- --- --- --- PASS CSGALNACT1 55790 broad.mit.edu 37 8 19362750 19362750 + Missense_Mutation SNP G A A TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr8:19362750G>A uc011kyn.1 - 4 1660 c.596C>T c.(595-597)CCC>CTC p.P199L CSGALNACT1_uc011kyo.1_Missense_Mutation_p.P199L|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.P198L|CSGALNACT1_uc003wzh.2_RNA NM_001130518 NP_001123990 Q8TDX6 CGAT1_HUMAN chondroitin sulfate 199 Lumenal (Potential). anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity central_nervous_system(2)|ovary(1) 3 Colorectal(111;0.182) ACGGTGATTGGGGCTGTTCTC 0.527 65 89 --- --- --- --- PASS PREX2 80243 broad.mit.edu 37 8 68968100 68968100 + Missense_Mutation SNP A G G TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr8:68968100A>G uc003xxv.1 + 10 1156 c.1129A>G c.(1129-1131)ATG>GTG p.M377V PREX2_uc003xxu.1_Missense_Mutation_p.M377V|PREX2_uc011lez.1_Missense_Mutation_p.M312V NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 377 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 TACCTGGGTCATGATCTCTGA 0.363 57 96 --- --- --- --- PASS PARP10 84875 broad.mit.edu 37 8 145059449 145059449 + Silent SNP G A A TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr8:145059449G>A uc003zal.3 - 5 829 c.721C>T c.(721-723)CTG>TTG p.L241L PARP10_uc003zak.3_5'UTR|PARP10_uc011lku.1_Silent_p.L253L|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Silent_p.L241L|PARP10_uc010mfn.1_Silent_p.L156L|PARP10_uc010mfo.1_Silent_p.S133S NM_032789 NP_116178 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 241 Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1) 6 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) acaaggctcagctctgagccc 0.269 28 32 --- --- --- --- PASS KIAA1797 54914 broad.mit.edu 37 9 20862683 20862683 + Missense_Mutation SNP C A A TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr9:20862683C>A uc003zog.1 + 18 2390 c.2027C>A c.(2026-2028)TCC>TAC p.S676Y KIAA1797_uc003zoh.1_Missense_Mutation_p.S112Y NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 676 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) CTAGTTCCTTCCTTAACGGTC 0.413 93 14 --- --- --- --- PASS KIAA1797 54914 broad.mit.edu 37 9 20862693 20862693 + Silent SNP C A A TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr9:20862693C>A uc003zog.1 + 18 2400 c.2037C>A c.(2035-2037)GTC>GTA p.V679V KIAA1797_uc003zoh.1_Silent_p.V115V NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 679 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) CCTTAACGGTCAATACAACTG 0.398 86 14 --- --- --- --- PASS RUSC2 9853 broad.mit.edu 37 9 35561252 35561252 + Missense_Mutation SNP G A A TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr9:35561252G>A uc003zww.2 + 12 4679 c.4424G>A c.(4423-4425)CGA>CAA p.R1475Q RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.R1475Q NM_014806 NP_055621 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 1475 SH3. cytosol ovary(1) 1 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) GACATCCTACGAGTGCTGGGG 0.642 4 120 --- --- --- --- PASS ANKRD20A3 441425 broad.mit.edu 37 9 42368547 42368547 + Missense_Mutation SNP G A A TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr9:42368547G>A uc004acd.2 + 1 245 c.133G>A c.(133-135)GAC>AAC p.D45N ANKRD20A3_uc010mmv.2_Missense_Mutation_p.D45N NM_001012419 NP_001012419 Q5VUR7 A20A3_HUMAN ankyrin repeat domain 20 family, member A3 45 0 TGTCAAAGGCGACGCCGCGGA 0.677 25 103 --- --- --- --- PASS KIAA0368 23392 broad.mit.edu 37 9 114176211 114176211 + Silent SNP C T T TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr9:114176211C>T uc004bfe.1 - 21 2577 c.2577G>A c.(2575-2577)CTG>CTA p.L859L KIAA0368_uc010muc.1_Silent_p.L681L NM_001080398 NP_001073867 KIAA0368 protein 0 ATTTGGTAGCCAGCTTTTCTG 0.323 6 13 --- --- --- --- PASS RGS3 5998 broad.mit.edu 37 9 116356725 116356725 + Missense_Mutation SNP G C C TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr9:116356725G>C uc004bhq.2 + 23 3305 c.3096G>C c.(3094-3096)AAG>AAC p.K1032N RGS3_uc004bhs.2_Missense_Mutation_p.K922N|RGS3_uc004bht.2_Missense_Mutation_p.K751N|RGS3_uc010muy.2_Missense_Mutation_p.K425N|RGS3_uc004bhv.2_Missense_Mutation_p.K353N|RGS3_uc004bhw.2_Missense_Mutation_p.K2N|RGS3_uc011lxh.1_Missense_Mutation_p.K342N|RGS3_uc004bhx.2_Missense_Mutation_p.K353N|RGS3_uc004bhz.2_Missense_Mutation_p.K374N|RGS3_uc004bia.2_Missense_Mutation_p.K145N NM_144488 NP_652759 P49796 RGS3_HUMAN regulator of G-protein signalling 3 isoform 6 1032 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 AGGACATGAAGAACAAGCTGG 0.592 66 71 --- --- --- --- PASS SFMBT2 57713 broad.mit.edu 37 10 7409620 7409620 + Missense_Mutation SNP G A A TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr10:7409620G>A uc009xio.1 - 4 518 c.427C>T c.(427-429)CCG>TCG p.P143S SFMBT2_uc001ijn.1_Missense_Mutation_p.P143S|SFMBT2_uc010qay.1_Missense_Mutation_p.P143S|SFMBT2_uc001ijo.1_Missense_Mutation_p.P143S NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 143 MBT 1. regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 CCGTCCGGCGGCATCAACACC 0.572 4 82 --- --- --- --- PASS ARHGAP22 58504 broad.mit.edu 37 10 49661458 49661458 + Missense_Mutation SNP C T T TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr10:49661458C>T uc001jgt.2 - 8 1174 c.877G>A c.(877-879)GAA>AAA p.E293K ARHGAP22_uc001jgs.2_Missense_Mutation_p.E203K|ARHGAP22_uc001jgu.2_Missense_Mutation_p.E309K|ARHGAP22_uc010qgl.1_Missense_Mutation_p.E250K|ARHGAP22_uc010qgm.1_Missense_Mutation_p.E299K|ARHGAP22_uc001jgv.2_5'UTR|ARHGAP22_uc001jgr.2_5'Flank NM_021226 NP_067049 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 2 293 Rho-GAP. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity ovary(1) 1 GCCTGAACTTCATCCAGAAAC 0.517 41 68 --- --- --- --- PASS CSTF2T 23283 broad.mit.edu 37 10 53458869 53458869 + Missense_Mutation SNP C T T TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr10:53458869C>T uc001jjp.2 - 1 487 c.441G>A c.(439-441)ATG>ATA p.M147I PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron NM_015235 NP_056050 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 147 mRNA processing nucleus nucleotide binding|RNA binding ovary(1) 1 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) CACAGAGCTTCATCTGCTTCA 0.498 111 164 --- --- --- --- PASS OR10A3 26496 broad.mit.edu 37 11 7960244 7960244 + Missense_Mutation SNP G A A TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr11:7960244G>A uc010rbi.1 - 1 824 c.824C>T c.(823-825)TCA>TTA p.S275L NM_001003745 NP_001003745 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, 275 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GTAAGCCAATGAGATCAGTTT 0.443 74 74 --- --- --- --- PASS ALX4 60529 broad.mit.edu 37 11 44289129 44289129 + Missense_Mutation SNP C T T TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr11:44289129C>T uc001myb.2 - 3 925 c.821G>A c.(820-822)CGT>CAT p.R274H NM_021926 NP_068745 Q9H161 ALX4_HUMAN aristaless-like homeobox 4 274 hair follicle development 0 CTGCCCAAAACGCTCCCGCTT 0.597 84 100 --- --- --- --- PASS PPFIA1 8500 broad.mit.edu 37 11 70171633 70171633 + Missense_Mutation SNP G C C TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr11:70171633G>C uc001opo.2 + 5 757 c.559G>C c.(559-561)GAA>CAA p.E187Q PPFIA1_uc001opn.1_Missense_Mutation_p.E187Q|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_5'Flank NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 187 Potential. cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) AGTAGCACTTGAAAGATGTAG 0.368 61 81 --- --- --- --- PASS PPFIA1 8500 broad.mit.edu 37 11 70172894 70172894 + Missense_Mutation SNP G T T TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr11:70172894G>T uc001opo.2 + 7 1098 c.900G>T c.(898-900)ATG>ATT p.M300I PPFIA1_uc001opn.1_Missense_Mutation_p.M300I|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 300 Potential. cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) CTGAAGAAATGAACACAAAAT 0.398 100 148 --- --- --- --- PASS GUCY1A2 2977 broad.mit.edu 37 11 106849404 106849404 + Missense_Mutation SNP G C C TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr11:106849404G>C uc001pjg.1 - 3 818 c.428C>G c.(427-429)TCC>TGC p.S143C GUCY1A2_uc010rvo.1_Missense_Mutation_p.S143C|GUCY1A2_uc009yxn.1_Missense_Mutation_p.S143C NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 143 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) TTCTTTGTTGGAGTGGTCTGC 0.323 58 66 --- --- --- --- PASS WNK1 65125 broad.mit.edu 37 12 1017901 1017901 + Silent SNP C T T TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr12:1017901C>T uc001qio.3 + 28 7599 c.7092C>T c.(7090-7092)ATC>ATT p.I2364I WNK1_uc001qip.3_Silent_p.I2116I|WNK1_uc001qir.3_Silent_p.I1537I NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 2364 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) ATTTCAACATCAGCAATTTGC 0.547 33 56 --- --- --- --- PASS FAM90A1 55138 broad.mit.edu 37 12 8376647 8376647 + Silent SNP C T T TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr12:8376647C>T uc001qui.2 - 5 847 c.288G>A c.(286-288)TTG>TTA p.L96L FAM90A1_uc001quh.2_Silent_p.L96L NM_018088 NP_060558 Q86YD7 F90A1_HUMAN hypothetical protein LOC55138 96 nucleic acid binding|zinc ion binding ovary(1) 1 Kidney(36;0.0866) TATCCTTGTTCAAGGGCCCAG 0.542 148 159 --- --- --- --- PASS STYK1 55359 broad.mit.edu 37 12 10772780 10772780 + Missense_Mutation SNP C G G TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr12:10772780C>G uc001qys.2 - 11 1753 c.1232G>C c.(1231-1233)AGA>ACA p.R411T NM_018423 NP_060893 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 411 integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(3)|ovary(2)|lung(2)|breast(1) 8 GCTCTCCACTCTGATGCCGGC 0.458 HNSCC(73;0.22) 200 250 --- --- --- --- PASS KRAS 3845 broad.mit.edu 37 12 25378645 25378645 + Missense_Mutation SNP C G G TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr12:25378645C>G uc001rgp.1 - 4 534 c.353G>C c.(352-354)TGT>TCT p.C118S KRAS_uc001rgq.1_Missense_Mutation_p.C118S NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 118 GTP. 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|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) AGGCAAATCACATTTATTTCC 0.353 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 103 109 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49427255 49427255 + Nonsense_Mutation SNP G A A TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr12:49427255G>A uc001rta.3 - 39 11233 c.11233C>T c.(11233-11235)CAG>TAG p.Q3745* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 3745 Potential.|Gln-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 AGAAGGtgctgctgctgctgt 0.463 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 6 7 --- --- --- --- PASS KCNH3 23416 broad.mit.edu 37 12 49951431 49951431 + Nonsense_Mutation SNP C T T TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr12:49951431C>T uc001ruh.1 + 15 3207 c.2947C>T c.(2947-2949)CAG>TAG p.Q983* KCNH3_uc010smj.1_Nonsense_Mutation_p.Q923* NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H 983 Pro-rich.|Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity 0 CCCAGCGTCTCAGAGCTCCCC 0.692 44 69 --- --- --- --- PASS BBS10 79738 broad.mit.edu 37 12 76741254 76741254 + Missense_Mutation SNP C G G TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr12:76741254C>G uc001syd.1 - 2 595 c.511G>C c.(511-513)GAG>CAG p.E171Q NM_024685 NP_078961 Q8TAM1 BBS10_HUMAN Bardet-Biedl syndrome 10 171 cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis cilium ATP binding ovary(1)|skin(1) 2 AAGAGCAACTCTAAAGAGCTC 0.353 Bardet-Biedl_syndrome 67 71 --- --- --- --- PASS CCDC60 160777 broad.mit.edu 37 12 119909929 119909929 + Missense_Mutation SNP G A A TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr12:119909929G>A uc001txe.2 + 3 766 c.301G>A c.(301-303)GAA>AAA p.E101K uc001txf.2_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 101 ovary(2)|upper_aerodigestive_tract(1) 3 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) CCAGCCAGCCGAAAAGATCTC 0.423 180 244 --- --- --- --- PASS ANKLE2 23141 broad.mit.edu 37 12 133324434 133324434 + Missense_Mutation SNP T G G TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr12:133324434T>G uc001ukx.2 - 5 1281 c.1214A>C c.(1213-1215)AAC>ACC p.N405T ANKLE2_uc001uky.3_Missense_Mutation_p.N343T NM_015114 NP_055929 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 405 cytoplasm|integral to membrane|nuclear envelope 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) GTCGGGGGTGTTGAGGTACAG 0.498 52 73 --- --- --- --- PASS PARP4 143 broad.mit.edu 37 13 25049640 25049640 + Silent SNP G A A TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr13:25049640G>A uc001upl.2 - 15 1990 c.1884C>T c.(1882-1884)ATC>ATT p.I628I PARP4_uc010tdc.1_Silent_p.I628I NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 628 VIT. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) TTCTCCCTTTGATGTGGACAT 0.463 98 152 --- --- --- --- PASS BRCA2 675 broad.mit.edu 37 13 32944665 32944665 + Missense_Mutation SNP G A A rs80359095 TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr13:32944665G>A uc001uub.1 + 19 8685 c.8458G>A c.(8458-8460)GTA>ATA p.V2820I NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2820 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TTGTGTTGATGTAATTATTCA 0.328 D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 72 106 --- --- --- --- PASS KL 9365 broad.mit.edu 37 13 33590885 33590885 + Missense_Mutation SNP G A A TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr13:33590885G>A uc001uus.2 + 1 315 c.307G>A c.(307-309)GAC>AAC p.D103N KL_uc001uur.1_Intron NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN klotho precursor 103 Glycosyl hydrolase-1 1.|Extracellular (Potential). aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding large_intestine(1)|ovary(1)|skin(1) 3 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) ACCCCCGGGAGACTCCCGGAA 0.711 20 28 --- --- --- --- PASS YLPM1 56252 broad.mit.edu 37 14 75287820 75287820 + Missense_Mutation SNP G C C TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr14:75287820G>C uc001xqj.3 + 17 6215 c.6091G>C c.(6091-6093)GAG>CAG p.E2031Q YLPM1_uc001xql.3_RNA|YLPM1_uc001xqm.1_Missense_Mutation_p.E514Q NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 1836 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck ovary(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GAAAGATGCAGAGGAAGAGGA 0.333 4 4 --- --- --- --- PASS ZNF839 55778 broad.mit.edu 37 14 102792953 102792953 + Missense_Mutation SNP C T T TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr14:102792953C>T uc001ylo.2 + 2 922 c.572C>T c.(571-573)TCC>TTC p.S191F ZNF839_uc010awk.1_Missense_Mutation_p.S307F|ZNF839_uc001ylp.2_RNA|ZNF839_uc001ylq.1_Missense_Mutation_p.S191F|ZNF839_uc001ylr.2_Missense_Mutation_p.S191F NM_018335 NP_060805 A8K0R7 ZN839_HUMAN zinc finger protein 839 191 intracellular zinc ion binding ovary(1)|central_nervous_system(1) 2 TCGAGCTGCTCCCTGAGGCCC 0.483 20 23 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105409053 105409053 + Silent SNP C G G TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr14:105409053C>G uc010axc.1 - 7 12855 c.12735G>C c.(12733-12735)CTG>CTC p.L4245L AHNAK2_uc001ypx.2_Silent_p.L4145L NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4245 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGGGGCCTTTCAGGTCCAGCT 0.637 157 186 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105409191 105409191 + Silent SNP C T T TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr14:105409191C>T uc010axc.1 - 7 12717 c.12597G>A c.(12595-12597)GTG>GTA p.V4199V AHNAK2_uc001ypx.2_Silent_p.V4099V NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4199 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCGGGAGTTTCACGTCCACTT 0.642 118 181 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106757880 106757880 + RNA SNP C T T rs146488407 by1000genomes TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr14:106757880C>T uc010tyt.1 - 472 c.16185G>A Parts of antibodies, mostly variable regions. 0 AACCCAGAGACGGTGCAGGTC 0.552 47 64 --- --- --- --- PASS CD276 80381 broad.mit.edu 37 15 73994714 73994714 + Missense_Mutation SNP C G G TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr15:73994714C>G uc002avv.1 + 3 432 c.198C>G c.(196-198)ATC>ATG p.I66M CD276_uc010bjd.1_Translation_Start_Site|CD276_uc002avu.1_Missense_Mutation_p.I66M|CD276_uc002avw.1_Missense_Mutation_p.I66M|CD276_uc010ulb.1_Intron|CD276_uc002avx.2_5'Flank NM_001024736 NP_001019907 Q5ZPR3 CD276_HUMAN CD276 antigen isoform a 66 Ig-like V-type 1.|Extracellular (Potential). cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation external side of plasma membrane|integral to membrane receptor binding skin(1) 1 TCAACCTCATCTGGCAGCTGA 0.637 39 36 --- --- --- --- PASS CREBBP 1387 broad.mit.edu 37 16 3788618 3788618 + Missense_Mutation SNP G A A TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr16:3788618G>A uc002cvv.2 - 26 4540 c.4336C>T c.(4336-4338)CGC>TGC p.R1446C CREBBP_uc002cvw.2_Missense_Mutation_p.R1408C NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1446 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.R1446H(3)|p.R1446L(2)|p.R1446C(2) haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) ACGGCTGTGCGGAGGCAACGT 0.413 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 32 28 --- --- --- --- PASS TSNAXIP1 55815 broad.mit.edu 37 16 67858617 67858617 + Missense_Mutation SNP G C C TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr16:67858617G>C uc002euj.2 + 6 845 c.451G>C c.(451-453)GAG>CAG p.E151Q TSNAXIP1_uc010cep.2_Missense_Mutation_p.E15Q|TSNAXIP1_uc010vjz.1_Intron|TSNAXIP1_uc002euf.3_Intron|TSNAXIP1_uc010vka.1_Missense_Mutation_p.E205Q|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.E136Q|TSNAXIP1_uc002eug.3_5'UTR|TSNAXIP1_uc002euh.3_5'UTR|TSNAXIP1_uc002eui.3_Intron|TSNAXIP1_uc002euk.2_5'UTR NM_018430 NP_060900 Q2TAA8 TXIP1_HUMAN translin-associated factor X interacting protein 151 Potential. cell differentiation|multicellular organismal development|spermatogenesis perinuclear region of cytoplasm 0 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125) GCTCAAGAAAGAGAAGATGAA 0.468 36 53 --- --- --- --- PASS KIAA0753 9851 broad.mit.edu 37 17 6483097 6483097 + Silent SNP G A A TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr17:6483097G>A uc002gde.3 - 19 3233 c.2874C>T c.(2872-2874)TTC>TTT p.F958F KIAA0753_uc010vtd.1_Silent_p.F414F|KIAA0753_uc010clo.2_Silent_p.F659F|KIAA0753_uc010vte.1_Silent_p.F659F NM_014804 NP_055619 Q2KHM9 K0753_HUMAN hypothetical protein LOC9851 958 centrosome 0 COAD - Colon adenocarcinoma(228;0.157) ATTCTGAGGTGAACACAGCTT 0.498 108 112 --- --- --- --- PASS SHBG 6462 broad.mit.edu 37 17 7534110 7534110 + Missense_Mutation SNP G C C TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr17:7534110G>C uc002gie.2 + 3 354 c.316G>C c.(316-318)GAG>CAG p.E106Q SHBG_uc010cmo.2_Missense_Mutation_p.E48Q|SHBG_uc010cmp.2_Missense_Mutation_p.E48Q|SHBG_uc010cmq.2_Missense_Mutation_p.E48Q|SHBG_uc010cmr.2_Missense_Mutation_p.E48Q|SHBG_uc010cms.2_Missense_Mutation_p.E48Q|SHBG_uc010cmt.2_Missense_Mutation_p.E48Q|SHBG_uc010cmu.2_Missense_Mutation_p.E48Q|SAT2_uc002gib.1_5'Flank|SAT2_uc002gic.2_5'Flank|SHBG_uc010cmz.2_Missense_Mutation_p.E48Q|SHBG_uc010cmv.2_Missense_Mutation_p.E48Q|SHBG_uc010cmw.2_Missense_Mutation_p.E48Q|SHBG_uc010cmx.2_Missense_Mutation_p.E48Q|SHBG_uc010cmy.2_Missense_Mutation_p.E48Q|SHBG_uc002gid.3_Missense_Mutation_p.E48Q|SHBG_uc010cnd.2_Missense_Mutation_p.E106Q|SHBG_uc010cna.2_Missense_Mutation_p.E106Q|SHBG_uc010vue.1_Missense_Mutation_p.E106Q|SHBG_uc010vuf.1_Missense_Mutation_p.E106Q|SHBG_uc010cnb.2_Missense_Mutation_p.E106Q|SHBG_uc010cnc.2_Missense_Mutation_p.E106Q NM_001040 NP_001031 P04278 SHBG_HUMAN sex hormone-binding globulin isoform 1 106 Laminin G-like 1. hormone transport extracellular region androgen binding|protein homodimerization activity p.?(1) 0 all_cancers(10;0.0867) READ - Rectum adenocarcinoma(115;0.168) Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624) CGGCAGGCCTGAGATCCAACT 0.557 75 61 --- --- --- --- PASS PIGL 9487 broad.mit.edu 37 17 16120682 16120682 + Missense_Mutation SNP G C C TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr17:16120682G>C uc002gpv.2 + 1 174 c.142G>C c.(142-144)GCG>CCG p.A48P NCOR1_uc002gpo.2_5'Flank|PIGL_uc010vwd.1_Missense_Mutation_p.A48P|NCOR1_uc002gps.1_5'Flank|NCOR1_uc010coz.1_5'Flank|NCOR1_uc010cpb.1_5'Flank|NCOR1_uc010cpa.1_5'Flank|NCOR1_uc002gpu.2_5'Flank NM_004278 NP_004269 Q9Y2B2 PIGL_HUMAN phosphatidylinositol glycan anchor biosynthesis, 48 Cytoplasmic (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane N-acetylglucosaminylphosphatidylinositol deacetylase activity 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.0934) GCTGGTCATAGCGCACCCTGA 0.597 59 78 --- --- --- --- PASS RAD51L3 5892 broad.mit.edu 37 17 33434099 33434099 + Missense_Mutation SNP G C C TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr17:33434099G>C uc002hir.2 - 5 644 c.388C>G c.(388-390)CAA>GAA p.Q130E RFFL_uc002hiq.2_Intron|RAD51L3_uc010ctj.2_5'Flank|RAD51L3_uc010wcd.1_Missense_Mutation_p.Q150E|RAD51L3_uc002his.2_Intron|RAD51L3_uc010ctk.2_Missense_Mutation_p.Q11E|RAD51L3_uc010wce.1_Missense_Mutation_p.Q11E|RAD51L3_uc002hit.2_Missense_Mutation_p.Q11E|RAD51L3_uc002hiu.2_Intron|RAD51L3_uc010wcf.1_RNA|RAD51L3_uc002hiw.1_RNA|RAD51L3_uc002hiv.1_Intron|RAD51L3_uc010ctl.1_Intron|RAD51L3_uc010ctm.1_Intron NM_002878 NP_002869 O75771 RA51D_HUMAN RAD51-like 3 isoform 1 130 DNA repair|reciprocal meiotic recombination nucleus ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) AGGACGTTTTGCTGCAGGCCA 0.552 Direct_reversal_of_damage|Homologous_recombination 76 95 --- --- --- --- PASS CCL16 6360 broad.mit.edu 37 17 34305249 34305249 + Missense_Mutation SNP C T T TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr17:34305249C>T uc002hkl.2 - 2 194 c.127G>A c.(127-129)GAG>AAG p.E43K CCL16_uc002hkm.2_RNA NM_004590 NP_004581 O15467 CCL16_HUMAN small inducible cytokine A16 precursor 43 cell-cell signaling|immune response|inflammatory response extracellular space chemoattractant activity|chemokine activity 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AACACTTTCTCATAATACTTC 0.502 162 227 --- --- --- --- PASS ZNF236 7776 broad.mit.edu 37 18 74620297 74620297 + Silent SNP C G G TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr18:74620297C>G uc002lmi.2 + 14 2511 c.2313C>G c.(2311-2313)CTC>CTG p.L771L ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 771 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CCCAGCAGCTCCAACAGCATC 0.493 87 168 --- --- --- --- PASS APC2 10297 broad.mit.edu 37 19 1470100 1470100 + Missense_Mutation SNP C T T TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr19:1470100C>T uc002lsr.1 + 15 7008 c.6800C>T c.(6799-6801)TCG>TTG p.S2267L APC2_uc002lss.1_Missense_Mutation_p.S1849L|APC2_uc002lst.1_Missense_Mutation_p.S2267L|APC2_uc002lsu.1_Missense_Mutation_p.S2266L|C19orf25_uc010xgn.1_Intron NM_005883 NP_005874 O95996 APC2_HUMAN adenomatosis polyposis coli 2 2267 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|pancreas(1) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCAGCCGCTCGGCCCGAGTA 0.736 4 12 --- --- --- --- PASS PLIN3 10226 broad.mit.edu 37 19 4839538 4839538 + Missense_Mutation SNP G A A TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr19:4839538G>A uc002mbj.2 - 8 1148 c.971C>T c.(970-972)TCC>TTC p.S324F PLIN3_uc002mbk.2_Missense_Mutation_p.S312F|PLIN3_uc002mbl.3_Missense_Mutation_p.S323F NM_005817 NP_005808 O60664 PLIN3_HUMAN mannose 6 phosphate receptor binding protein 1 324 vesicle-mediated transport endosome membrane|Golgi apparatus|lipid particle protein binding 0 Galsulfase(DB01279)|Idursulfase(DB01271) GAGCGCCCGGGACTCGACCTG 0.597 25 13 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9069097 9069097 + Missense_Mutation SNP C A A TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr19:9069097C>A uc002mkp.2 - 3 18553 c.18349G>T c.(18349-18351)GAT>TAT p.D6117Y NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6119 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AATGTAGGATCATAGTAGGTG 0.493 22 37 --- --- --- --- PASS CSNK2A1 1457 broad.mit.edu 37 20 472947 472947 + Missense_Mutation SNP C T T TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr20:472947C>T uc002wdw.1 - 9 965 c.572G>A c.(571-573)CGA>CAA p.R191Q CSNK2A1_uc002wdx.1_Missense_Mutation_p.R191Q|CSNK2A1_uc002wdy.1_Missense_Mutation_p.R55Q NM_177559 NP_808227 P68400 CSK21_HUMAN casein kinase II alpha 1 subunit isoform a 191 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity ovary(1) 1 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) GGAAGCAACTCGGACATTATA 0.413 4 47 --- --- --- --- PASS JPH2 57158 broad.mit.edu 37 20 42744725 42744725 + Silent SNP C A A TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr20:42744725C>A uc002xli.1 - 4 2463 c.1590G>T c.(1588-1590)GCG>GCT p.A530A NM_020433 NP_065166 Q9BR39 JPH2_HUMAN junctophilin 2 isoform 1 530 Pro-rich.|Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane 0 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TGCGGCGGCCCGCGCCCTCGG 0.761 5 2 --- --- --- --- PASS LAMA5 3911 broad.mit.edu 37 20 60908748 60908748 + Nonsense_Mutation SNP G A A TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr20:60908748G>A uc002ycq.2 - 24 2960 c.2893C>T c.(2893-2895)CAG>TAG p.Q965* NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 965 Domain IV 1 (domain IV B). angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCCACGGGCTGACTCTGTGCT 0.692 4 1 --- --- --- --- PASS MCM3AP 8888 broad.mit.edu 37 21 47666692 47666692 + Missense_Mutation SNP C T T TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr21:47666692C>T uc002zir.1 - 21 4435 c.4399G>A c.(4399-4401)GAG>AAG p.E1467K MCM3APAS_uc002zim.2_Intron|MCM3APAS_uc002zin.2_Intron|MCM3AP_uc002zio.1_5'UTR|MCM3AP_uc002zip.1_Missense_Mutation_p.E208K|MCM3AP_uc002ziq.1_Missense_Mutation_p.E394K|MCM3APAS_uc002zis.1_Intron NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 1467 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) GCCATGTCCTCACTCTTCATT 0.602 140 214 --- --- --- --- PASS HUWE1 10075 broad.mit.edu 37 X 53581603 53581603 + Missense_Mutation SNP G C C TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chrX:53581603G>C uc004dsp.2 - 61 8887 c.8485C>G c.(8485-8487)CCC>GCC p.P2829A HUWE1_uc004dsn.2_Missense_Mutation_p.P1653A NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 2829 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 CTTATAGTGGGAGCTGGGGAT 0.458 41 2 --- --- --- --- PASS DRP2 1821 broad.mit.edu 37 X 100494030 100494030 + Missense_Mutation SNP C A A TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chrX:100494030C>A uc004egz.2 + 6 868 c.499C>A c.(499-501)CAG>AAG p.Q167K DRP2_uc011mrh.1_Missense_Mutation_p.Q89K NM_001939 NP_001930 Q13474 DRP2_HUMAN dystrophin related protein 2 167 Spectrin 1. central nervous system development cytoplasm|cytoskeleton zinc ion binding ovary(2) 2 GGAGTCAGCTCAGGCCTTCCT 0.473 130 12 --- --- --- --- PASS ARID1A 8289 broad.mit.edu 37 1 27056345 27056346 + Frame_Shift_Ins INS - AC AC TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr1:27056345_27056346insAC uc001bmv.1 + 2 1714_1715 c.1341_1342insAC c.(1339-1344)TATACAfs p.Y447fs ARID1A_uc001bmt.1_Frame_Shift_Ins_p.Y447fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.Y447fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.Y64fs NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 447_448 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Y447*(1) ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCCTCTCTTATACACAGCAGGT 0.554 Mis|N|F|S|D clear cell ovarian carcinoma|RCC 66 38 --- --- --- --- CTBS 1486 broad.mit.edu 37 1 85040032 85040033 + Frame_Shift_Ins INS - CA CA rs150466708 by1000genomes TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr1:85040032_85040033insCA uc001dka.2 - 1 131_132 c.66_67insTG c.(64-69)CTAGCGfs p.L22fs CTBS_uc001dkc.2_Translation_Start_Site|CTBS_uc001dkd.2_Translation_Start_Site|CTBS_uc001dkb.2_Translation_Start_Site NM_004388 NP_004379 Q01459 DIAC_HUMAN chitobiase, di-N-acetyl- precursor 22_23 lysosome cation binding 0 all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166) gccagcagcgcTAGACCCGGGA 0.599 6 5 --- --- --- --- LOC222699 222699 broad.mit.edu 37 6 28185336 28185337 + RNA INS - T T rs113483443 TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr6:28185336_28185337insT uc011dla.1 - 1 c.1371_1372insA NR_002936 Homo sapiens pp14762 mRNA, complete cds. 0 tccttttcctcttttttttttt 0.361 5 3 --- --- --- --- MLL3 58508 broad.mit.edu 37 7 151875059 151875060 + Frame_Shift_Ins INS - T T TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr7:151875059_151875060insT uc003wla.2 - 38 7697_7698 c.7478_7479insA c.(7477-7479)CCGfs p.P2493fs MLL3_uc003wkz.2_Frame_Shift_Ins_p.P1554fs|MLL3_uc003wky.2_Frame_Shift_Ins_p.P2fs NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 2493 Pro-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GCTCTTGACTCGGCATGGTACC 0.361 N medulloblastoma 122 87 --- --- --- --- KIAA1797 54914 broad.mit.edu 37 9 20862670 20862671 + Frame_Shift_Del DEL TC - - TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr9:20862670_20862671delTC uc003zog.1 + 18 2377_2378 c.2014_2015delTC c.(2014-2016)TCTfs p.S672fs KIAA1797_uc003zoh.1_Frame_Shift_Del_p.S108fs NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 672 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) TGAACTATTTTCTCTAGTTCCT 0.421 54 116 --- --- --- --- SMCHD1 23347 broad.mit.edu 37 18 2688481 2688483 + In_Frame_Del DEL TCT - - TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr18:2688481_2688483delTCT uc002klm.3 + 6 917_919 c.728_730delTCT c.(727-732)GTCTTC>GTC p.F245del NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 245 chromosome organization ATP binding 0 AAGCAAGCTGTCTTCTTTGTTGG 0.350 117 82 --- --- --- --- SPTBN4 57731 broad.mit.edu 37 19 41076449 41076450 + Frame_Shift_Ins INS - A A TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr19:41076449_41076450insA uc002ony.2 + 33 7220_7221 c.7134_7135insA c.(7132-7137)CCCAAGfs p.P2378fs SPTBN4_uc002onz.2_Frame_Shift_Ins_p.P2378fs|SPTBN4_uc010egx.2_Frame_Shift_Ins_p.P1121fs NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 2378_2379 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) gggaccggcccaagccgcgacg 0.332 5 3 --- --- --- --- SHANK3 85358 broad.mit.edu 37 22 51159932 51159933 + Frame_Shift_Ins INS - G G TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 8cf9b32d-3d6f-4898-8c7a-89511b754021 59ed3755-0b09-4a75-81bf-0994e7a2d11a g.chr22:51159932_51159933insG uc003bne.1 + 22 3719_3720 c.3719_3720insG c.(3718-3720)CTGfs p.L1240fs SHANK3_uc003bnf.1_Frame_Shift_Ins_p.L687fs|SHANK3_uc010hbg.1_Frame_Shift_Ins_p.L422fs NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 1240 central_nervous_system(1) 1 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) CCCAGCAGGCTGGGGGGGGCCG 0.718 4 2 --- --- --- ---