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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample NOL9 79707 broad.mit.edu 37 1 6585956 6585956 + Silent SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr1:6585956C>T uc001ans.2 - 12 2086 c.2067G>A c.(2065-2067)GAG>GAA p.E689E NOL9_uc010nzs.1_RNA NM_024654 NP_078930 Q5SY16 NOL9_HUMAN nucleolar protein 9 689 maturation of 5.8S rRNA nucleolus ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding skin(1) 1 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649) GGTATGGTTTCTCTTTATGTG 0.413 NaN 0 0 0 0.006214 0 8 81 DMRTB1 63948 broad.mit.edu 37 1 53927213 53927213 + Missense_Mutation SNP C C A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr1:53927213C>A uc001cvq.1 + 2 700 c.645C>A c.(643-645)CAC>CAA p.H215Q NM_033067 NP_149056 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 215 Pro-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 CCAGCATGCACCCCTACTGCC 0.647 NaN 1 0 1.15088e-07 0.028581 1.29369e-07 16 146 ACOT11 26027 broad.mit.edu 37 1 55060253 55060253 + Missense_Mutation SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr1:55060253C>T uc001cxm.1 + 6 578 c.496C>T c.(496-498)CGG>TGG p.R166W ACOT11_uc001cxj.1_Missense_Mutation_p.R44W|ACOT11_uc001cxk.2_Missense_Mutation_p.R132W|ACOT11_uc001cxl.1_Missense_Mutation_p.R166W NM_015547 NP_056362 Q8WXI4 ACO11_HUMAN thioesterase, adipose associated isoform BFIT1 166 fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity central_nervous_system(1) 1 GATCACGCCGCGGACAGAAGA 0.627 NaN 0 0 0 0.014758 0 4 44 TRIM46 80128 broad.mit.edu 37 1 155154564 155154564 + Missense_Mutation SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr1:155154564G>A uc001fhs.1 + 9 1908 c.1825G>A c.(1825-1827)GTC>ATC p.V609I RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.V483I|TRIM46_uc001fhu.1_Missense_Mutation_p.V586I|TRIM46_uc009wpg.1_Missense_Mutation_p.V596I|TRIM46_uc001fhw.1_RNA NM_025058 NP_079334 Q7Z4K8 TRI46_HUMAN tripartite motif-containing 46 609 B30.2/SPRY. intracellular zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CAAGGTGGGCGTCGGGCTGGA 0.647 NaN 0 0 0 0.020292 0 14 37 NR1I3 9970 broad.mit.edu 37 1 161200969 161200969 + Missense_Mutation SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr1:161200969C>T uc001fzx.2 - 7 964 c.761G>A c.(760-762)CGA>CAA p.R254Q TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Missense_Mutation_p.R250Q|NR1I3_uc001fzg.2_Missense_Mutation_p.R221Q|NR1I3_uc001fzh.2_Missense_Mutation_p.R221Q|NR1I3_uc001fzi.2_Missense_Mutation_p.R221Q|NR1I3_uc001fzj.2_Missense_Mutation_p.R221Q|NR1I3_uc001fzk.2_Intron|NR1I3_uc001fzl.2_Intron|NR1I3_uc001fzm.2_Missense_Mutation_p.R175Q|NR1I3_uc001fzn.2_Intron|NR1I3_uc009wug.2_Missense_Mutation_p.R83Q|NR1I3_uc001fzp.2_Missense_Mutation_p.R254Q|NR1I3_uc001fzo.2_Missense_Mutation_p.R83Q|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Intron|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Missense_Mutation_p.R254Q|NR1I3_uc001fzy.2_Missense_Mutation_p.R250Q|NR1I3_uc001fzz.2_Intron|NR1I3_uc001gaa.2_Intron|NR1I3_uc001gab.2_Intron|NR1I3_uc001gac.2_Missense_Mutation_p.R225Q|NR1I3_uc010pkm.1_Missense_Mutation_p.R221Q|NR1I3_uc010pkn.1_3'UTR NM_001077480 NP_001070948 Q14994 NR1I3_HUMAN constitutive androstane receptor isoform 2 254 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) CTGCAGTTTTCGTAGTGTTCC 0.532 NaN 0 0 0 0.006122 0 17 29 BAT2L2 23215 broad.mit.edu 37 1 171484973 171484973 + Silent SNP A A G TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr1:171484973A>G uc010pmg.1 + 5 761 c.495A>G c.(493-495)GGA>GGG p.G165G BAT2L2_uc001ghq.1_Silent_p.G162G|BAT2L2_uc001ghr.1_Silent_p.G167G NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 165 protein C-terminus binding 0 ACAACTATGGACCTGGACCCA 0.398 NaN 0 0 0 0.006214 0 8 42 HMCN1 83872 broad.mit.edu 37 1 185953314 185953314 + Missense_Mutation SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr1:185953314C>T uc001grq.1 + 19 3033 c.2804C>T c.(2803-2805)CCT>CTT p.P935L HMCN1_uc001grr.1_Missense_Mutation_p.P276L NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 935 Ig-like C2-type 6. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CTCCAAAATCCTTACATCACT 0.383 NaN 0 0 0 0.006214 0 10 49 GPR37L1 9283 broad.mit.edu 37 1 202097242 202097242 + Missense_Mutation SNP T T G TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr1:202097242T>G uc001gxj.2 + 2 1067 c.1004T>G c.(1003-1005)GTG>GGG p.V335G NM_004767 NP_004758 O60883 ETBR2_HUMAN G-protein coupled receptor 37 like 1 precursor 335 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|central_nervous_system(1) 2 ACATGGCGGGTGCGAGGCCCT 0.617 NaN 0 0 0 0.016522 0 7 70 KCNH1 3756 broad.mit.edu 37 1 210856624 210856624 + Silent SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr1:210856624C>T uc001hib.2 - 11 3139 c.2969G>A c.(2968-2970)TGA>TAA p.*990* KCNH1_uc001hic.2_Silent_p.*963* NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 990 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) ATAGACCTCTCAGCTGGCTCC 0.443 NaN 0 0 0 0.010729 0 10 177 FAM71A 149647 broad.mit.edu 37 1 212798487 212798487 + Nonsense_Mutation SNP C C T rs141642686 byFrequency TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr1:212798487C>T uc001hjk.2 + 1 672 c.268C>T c.(268-270)CGA>TGA p.R90* uc010pth.1_Intron NM_153606 NP_705834 Q8IYT1 FA71A_HUMAN hypothetical protein LOC149647 90 skin(3)|ovary(1)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) GCTACTGGCACGACCGGCCAC 0.567 NaN 0 0 0 0.00308 0 8 72 HHIPL2 79802 broad.mit.edu 37 1 222713516 222713516 + Missense_Mutation SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr1:222713516C>T uc001hnh.1 - 4 1344 c.1286G>A c.(1285-1287)GGG>GAG p.G429E NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 429 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0185) GATGGGGTCCCCTCGGTCCAC 0.577 NaN 0 0 0 0.02938 0 7 94 RYR2 6262 broad.mit.edu 37 1 237787085 237787085 + Missense_Mutation SNP T T G TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr1:237787085T>G uc001hyl.1 + 39 6057 c.5937T>G c.(5935-5937)TTT>TTG p.F1979L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1979 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTCTCAATTTTAAGGATGACA 0.348 NaN 0 0 0 0.004672 0 3 26 ADARB2 105 broad.mit.edu 37 10 1230959 1230959 + Missense_Mutation SNP G G A rs141253548 byFrequency TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr10:1230959G>A uc009xhq.2 - 9 2259 c.1885C>T c.(1885-1887)CGC>TGC p.R629C ADARB2_uc009xhp.2_Missense_Mutation_p.R13C|ADARB2_uc001igl.3_5'UTR|ADARB2_uc001igm.3_Missense_Mutation_p.R138C NM_018702 NP_061172 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 629 A to I editase. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) CCCGGCTGGCGCGCCTCGGCG 0.672 NaN 0 0 0 0.008291 0 10 80 DOCK1 1793 broad.mit.edu 37 10 128798484 128798484 + Missense_Mutation SNP C C G TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr10:128798484C>G uc001ljt.2 + 10 962 c.898C>G c.(898-900)CAG>GAG p.Q300E DOCK1_uc010qun.1_Missense_Mutation_p.Q300E NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 300 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) TTTTGTCTGTCAGATTGTTCG 0.448 NaN 0 0 0 0.014758 0 4 39 SAA2 6289 broad.mit.edu 37 11 18267001 18267001 + Missense_Mutation SNP G G C TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr11:18267001G>C uc001mnz.3 - 4 329 c.292C>G c.(292-294)CAG>GAG p.Q98E SAA2_uc009yhj.2_Intron NM_030754 NP_110381 P02735 SAA_HUMAN serum amyloid A2 isoform a 98 ADQAAN -> SEATVK (in Ref. 11; AA sequence). acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion high-density lipoprotein particle G-protein-coupled receptor binding 0 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) TTGGCAGCCTGATCGGCCAGC 0.552 NaN 0 0 0 0.006214 0 9 111 FAT3 120114 broad.mit.edu 37 11 92495148 92495148 + Missense_Mutation SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr11:92495148C>T uc001pdj.3 + 4 3813 c.3796C>T c.(3796-3798)CGT>TGT p.R1266C NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1266 Cadherin 12.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GCTGCCAGAACGTGACCGAAA 0.473 NaN TCGA Ovarian(4;0.039) 0 0 0 0.016723 0 12 117 FAT3 120114 broad.mit.edu 37 11 92532073 92532073 + Missense_Mutation SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr11:92532073C>T uc001pdj.3 + 9 5911 c.5894C>T c.(5893-5895)ACC>ATC p.T1965I NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1965 Cadherin 17.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TTCTACAGTACCTCCATGGTC 0.418 NaN TCGA Ovarian(4;0.039) 0 0 0 0.013726 0 35 56 CNTN5 53942 broad.mit.edu 37 11 100211904 100211904 + Silent SNP A A G TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr11:100211904A>G uc001pga.2 + 23 3336 c.2997A>G c.(2995-2997)CCA>CCG p.P999P CNTN5_uc001pgb.2_Silent_p.P925P|CNTN5_uc010ruk.1_Silent_p.P270P NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 999 Fibronectin type-III 4. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CCGTCATACCATTAGCCAACG 0.433 NaN 0 0 0 0.024334 0 25 94 PVRL1 5818 broad.mit.edu 37 11 119547811 119547811 + Splice_Site SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr11:119547811C>T uc001pwv.2 - 4 1023 c.851_splice c.e4+1 p.T284_splice PVRL1_uc001pwu.1_Splice_Site_p.T284_splice|PVRL1_uc001pww.2_Splice_Site_p.T284_splice NM_002855 NP_002846 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 isoform 1 adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity 0 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) GCAGCACTTACGTGGTCCAGT 0.577 NaN 0 0 0 0.020292 0 13 63 SLC2A14 144195 broad.mit.edu 37 12 7970478 7970478 + Silent SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr12:7970478G>A uc001qtk.2 - 15 2086 c.1293C>T c.(1291-1293)TGC>TGT p.C431C SLC2A14_uc001qtl.2_Silent_p.C408C|SLC2A14_uc001qtm.2_Silent_p.C408C|SLC2A14_uc010sgg.1_Silent_p.C322C|SLC2A14_uc001qtn.2_Silent_p.C431C|SLC2A14_uc001qto.2_Silent_p.C66C|SLC2A14_uc010sgh.1_Silent_p.C446C NM_153449 NP_703150 Q8TDB8 GTR14_HUMAN glucose transporter 14 431 Helical; Name=11; (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity ovary(1) 1 Kidney(36;0.0883) TCCAGTTGGAGCAGCCGGCCA 0.483 NaN 0 0 0 0.0333 0 14 146 ADCY6 112 broad.mit.edu 37 12 49176704 49176704 + Missense_Mutation SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr12:49176704C>T uc001rsh.3 - 1 1174 c.514G>A c.(514-516)GCA>ACA p.A172T ADCY6_uc001rsj.3_Missense_Mutation_p.A172T|ADCY6_uc001rsi.3_Missense_Mutation_p.A172T NM_015270 NP_056085 O43306 ADCY6_HUMAN adenylate cyclase 6 isoform a 172 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding 0 CGGGCGGGTGCGGCGTGGAAA 0.647 NaN 0 0 0 0.00308 0 7 100 DIP2B 57609 broad.mit.edu 37 12 51034594 51034594 + Missense_Mutation SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr12:51034594G>A uc001rwv.2 + 3 416 c.260G>A c.(259-261)CGA>CAA p.R87Q DIP2B_uc001rwu.2_Missense_Mutation_p.R87Q|DIP2B_uc009zls.1_5'UTR NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 87 nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 AAGTACCACCGAACTCGATCT 0.468 NaN 0 0 0 0.028581 0 15 28 PLXNC1 10154 broad.mit.edu 37 12 94648979 94648979 + Silent SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr12:94648979G>A uc001tdc.2 + 17 3243 c.2994G>A c.(2992-2994)GAG>GAA p.E998E PLXNC1_uc010sut.1_Silent_p.E45E NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 998 Cytoplasmic (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 GCTTTGCTGAGCTGCAGATGG 0.393 NaN 0 0 0 0.006214 0 8 30 NCOR2 9612 broad.mit.edu 37 12 124824693 124824693 + Missense_Mutation SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr12:124824693G>A uc010tay.1 - 39 5732 c.5576C>T c.(5575-5577)GCC>GTC p.A1859V NCOR2_uc010taz.1_Missense_Mutation_p.A1843V|NCOR2_uc010tax.1_5'UTR NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 1 1860 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GGAGTGGGAGGCGGGgcggct 0.493 NaN 0 0 0 0.016522 0 25 45 TMEM132D 121256 broad.mit.edu 37 12 130185155 130185155 + Silent SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr12:130185155C>T uc009zyl.1 - 2 496 c.168G>A c.(166-168)GCG>GCA p.A56A NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 56 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) AGGAGACGTCCGCGTTGTTGA 0.562 NaN 0 0 0 0.006214 0 10 36 FNDC3A 22862 broad.mit.edu 37 13 49777357 49777357 + Missense_Mutation SNP G G T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr13:49777357G>T uc001vcm.2 + 25 3524 c.3219G>T c.(3217-3219)ATG>ATT p.M1073I FNDC3A_uc001vcn.2_Missense_Mutation_p.M1073I|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcq.2_Missense_Mutation_p.M1017I NM_001079673 NP_001073141 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 1073 Fibronectin type-III 9. Golgi membrane|integral to membrane lung(2) 2 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) TACAGCCAATGAAAGGTGATC 0.328 NaN 1 0 9.16793e-09 0.0333 1.03813e-08 15 27 GPC5 2262 broad.mit.edu 37 13 92345539 92345539 + Missense_Mutation SNP C C A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr13:92345539C>A uc010tif.1 + 3 790 c.424C>A c.(424-426)CAG>AAG p.Q142K NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 142 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TGCTTCGGTTCAGGAGTTCTT 0.408 NaN 1 0 2.27111e-07 0.013537 2.53443e-07 11 80 TUBGCP3 10426 broad.mit.edu 37 13 113181716 113181716 + Missense_Mutation SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr13:113181716G>A uc001vse.1 - 12 1605 c.1418C>T c.(1417-1419)TCG>TTG p.S473L TUBGCP3_uc010tjq.1_Missense_Mutation_p.S463L|TUBGCP3_uc001vsf.2_Missense_Mutation_p.S473L NM_006322 NP_006313 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 473 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1) 1 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) CGTCATAAACGAAGGAATCAT 0.368 NaN 0 0 0 0.021553 0 6 78 AKAP6 9472 broad.mit.edu 37 14 33015022 33015022 + Missense_Mutation SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr14:33015022C>T uc001wrq.2 + 4 1333 c.1163C>T c.(1162-1164)ACA>ATA p.T388I AKAP6_uc010aml.2_Missense_Mutation_p.T385I NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 388 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) ACGCAGCCTACATTGCCAAAA 0.418 NaN 0 0 0 0.004482 0 9 47 INSM2 84684 broad.mit.edu 37 14 36004658 36004658 + Silent SNP C C A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr14:36004658C>A uc001wth.1 + 1 1411 c.1200C>A c.(1198-1200)GGC>GGA p.G400G NM_032594 NP_115983 Q96T92 INSM2_HUMAN insulinoma-associated protein IA-6 400 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(1)|skin(1) 2 Breast(36;0.122)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452) GBM - Glioblastoma multiforme(112;0.0223) TGCCTCAGGGCCCCTACACGG 0.682 NaN 1 0 1.6384e-10 0.02938 1.88294e-10 7 70 GPR65 8477 broad.mit.edu 37 14 88477734 88477734 + Missense_Mutation SNP C C G TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr14:88477734C>G uc001xvv.2 + 2 1073 c.543C>G c.(541-543)ATC>ATG p.I181M NM_003608 NP_003599 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 181 Helical; Name=5; (Potential). actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity 0 AATGGCAAATCAACCTCAACT 0.413 NaN 0 0 0 0.021553 0 5 92 CHAC1 79094 broad.mit.edu 37 15 41247690 41247690 + Silent SNP T T C TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr15:41247690T>C uc001znh.2 + 3 533 c.513T>C c.(511-513)TAT>TAC p.Y171Y CHAC1_uc010uct.1_Intron NM_024111 NP_077016 Q9BUX1 CHAC1_HUMAN ChaC, cation transport regulator-like 1 isoform 171 apoptosis in response to endoplasmic reticulum stress|response to unfolded protein cytosol protein binding 0 all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163) TCACCTTCTATCCCCAAGATG 0.572 NaN 0 0 0 0.030593 0 27 215 PLDN 26258 broad.mit.edu 37 15 45898644 45898644 + Missense_Mutation SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr15:45898644G>A uc001zvq.2 + 5 676 c.451G>A c.(451-453)GAG>AAG p.E151K PLDN_uc001zvr.2_RNA|PLDN_uc001zvs.2_RNA NM_012388 NP_036520 Q9UL45 PLDN_HUMAN pallidin 151 Potential. post-Golgi vesicle-mediated transport|synaptic vesicle docking involved in exocytosis BLOC-1 complex|endomembrane system|membrane identical protein binding|syntaxin-13 binding skin(1) 1 Lung NSC(122;1.6e-06)|all_lung(180;1.13e-05)|Melanoma(134;0.027) all cancers(107;6.58e-18)|GBM - Glioblastoma multiforme(94;5.91e-07) GTTGGAAAGGGAGCAGCAACG 0.398 NaN 0 0 0 0.004482 0 8 57 CSNK1G1 53944 broad.mit.edu 37 15 64508801 64508801 + Missense_Mutation SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr15:64508801G>A uc002anf.2 - 5 884 c.404C>T c.(403-405)ACA>ATA p.T135I CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Missense_Mutation_p.T135I|CSNK1G1_uc002anh.1_Missense_Mutation_p.T135I|CSNK1G1_uc002anj.2_Missense_Mutation_p.T108I NM_022048 NP_071331 Q9HCP0 KC1G1_HUMAN casein kinase 1, gamma 1 135 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity 0 CAAAGTAAATGTTCGGTCACA 0.468 NaN 0 0 0 0.01892 0 21 25 IGDCC3 9543 broad.mit.edu 37 15 65625614 65625614 + Silent SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr15:65625614C>T uc002aos.2 - 6 1215 c.963G>A c.(961-963)CAG>CAA p.Q321Q NM_004884 NP_004875 Q8IVU1 IGDC3_HUMAN putative neuronal cell adhesion molecule 321 Extracellular (Potential).|Ig-like C2-type 3. ovary(3) 3 CCAGCCGGCCCTGTGCCGTTC 0.642 NaN 0 0 0 0.004482 0 8 84 LRRC49 54839 broad.mit.edu 37 15 71302263 71302263 + Missense_Mutation SNP A A G TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr15:71302263A>G uc002asw.2 + 13 1772 c.1525A>G c.(1525-1527)ACA>GCA p.T509A LRRC49_uc002asu.2_Missense_Mutation_p.T499A|LRRC49_uc002asx.2_Missense_Mutation_p.T465A|LRRC49_uc010ukf.1_Missense_Mutation_p.T514A|LRRC49_uc002asy.2_Missense_Mutation_p.T215A|LRRC49_uc002asz.2_Missense_Mutation_p.T481A NM_017691 NP_060161 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 509 cytoplasm|microtubule ovary(1) 1 TGTCAATTTTACACTCTGGAA 0.363 NaN 0 0 0 0.02938 0 6 35 RHBDF1 64285 broad.mit.edu 37 16 113739 113739 + Missense_Mutation SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr16:113739C>T uc002cfl.3 - 7 456 c.308G>A c.(307-309)CGC>CAC p.R103H RHBDF1_uc010uty.1_Missense_Mutation_p.R126H|RHBDF1_uc010utz.1_Missense_Mutation_p.R103H|RHBDF1_uc010bqo.1_RNA NM_022450 NP_071895 Q96CC6 RHDF1_HUMAN rhomboid family 1 103 Cytoplasmic (Potential). cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity ovary(1)|pancreas(1) 2 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) GATGCTCTTGCGCTGCCATTT 0.657 NaN 0 0 0 0.004482 0 7 51 GRIN2A 2903 broad.mit.edu 37 16 9916174 9916174 + Missense_Mutation SNP C C G TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr16:9916174C>G uc002czo.3 - 10 2663 c.2115G>C c.(2113-2115)ATG>ATC p.M705I GRIN2A_uc010uym.1_Missense_Mutation_p.M705I|GRIN2A_uc010uyn.1_Missense_Mutation_p.M548I|GRIN2A_uc002czr.3_Missense_Mutation_p.M705I NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 705 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TAAATTTGGTCATGTACTGAT 0.468 NaN 0 0 0 0.006214 0 9 74 SNX29 92017 broad.mit.edu 37 16 12223537 12223537 + Missense_Mutation SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr16:12223537G>A uc002dby.3 + 6 418 c.362G>A c.(361-363)CGG>CAG p.R121Q SNX29_uc010uyx.1_Missense_Mutation_p.R148Q NM_001080530 NP_001073999 Q8TEQ0 SNX29_HUMAN sorting nexin 29 121 Potential. cell communication phosphatidylinositol binding ovary(1) 1 GCCGCGCTCCGGCAAGAGGTG 0.607 NaN 0 0 0 0.00308 0 7 20 SRCAP 10847 broad.mit.edu 37 16 30718977 30718977 + Nonsense_Mutation SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr16:30718977C>T uc002dze.1 + 6 962 c.577C>T c.(577-579)CGA>TGA p.R193* SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Nonsense_Mutation_p.R50*|SRCAP_uc010bzz.1_5'Flank|SNORA30_uc002dzh.1_5'Flank NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 193 HSA. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) CAAGCTGCGTCGAATTGCTTC 0.572 NaN 0 0 0 0.028581 0 15 57 SRCAP 10847 broad.mit.edu 37 16 30720939 30720939 + Silent SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr16:30720939C>T uc002dze.1 + 7 1124 c.739C>T c.(739-741)CTG>TTG p.L247L SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.L104L|SRCAP_uc010bzz.1_5'Flank|SNORA30_uc002dzh.1_5'Flank NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 247 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) CTCGGACCTTCTGTCTCAGAG 0.547 NaN 0 0 0 0.012213 0 32 92 RNF40 9810 broad.mit.edu 37 16 30774850 30774850 + Missense_Mutation SNP C C G TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr16:30774850C>G uc002dzq.2 + 4 535 c.412C>G c.(412-414)CTC>GTC p.L138V C16orf93_uc002dzm.2_5'Flank|C16orf93_uc002dzn.2_5'Flank|C16orf93_uc002dzo.2_5'Flank|C16orf93_uc002dzp.2_5'Flank|RNF40_uc010caa.2_Missense_Mutation_p.L138V|RNF40_uc010cab.2_Missense_Mutation_p.L138V|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.L138V|RNF40_uc010vfb.1_Intron NM_014771 NP_055586 O75150 BRE1B_HUMAN ring finger protein 40 138 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1) 1 Colorectal(24;0.198) TGGGACTCCTCTCCCAGAGCC 0.617 NaN 0 0 0 0.006122 0 19 46 CKLF 51192 broad.mit.edu 37 16 66592158 66592158 + Silent SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr16:66592158C>T uc002eow.2 + 2 291 c.144C>T c.(142-144)ATC>ATT p.I48I CKLF_uc002eox.1_Silent_p.I48I|CKLF_uc002eot.2_Silent_p.I48I|CKLF_uc002eou.2_Intron|CKLF_uc002eov.2_Intron NM_016951 NP_058647 Q9UBR5 CKLF_HUMAN chemokine-like factor isoform a 48 Helical; (Potential).|MARVEL. cell proliferation|lymphocyte chemotaxis|macrophage chemotaxis|neutrophil chemotaxis|secretion by cell extracellular space|integral to membrane chemokine activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217) ATATTGTTATCACTGGATTTG 0.353 NaN 0 0 0 0.008291 0 10 51 TMED6 146456 broad.mit.edu 37 16 69385672 69385672 + Translation_Start_Site SNP C C A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr16:69385672C>A uc002exc.1 - 1 18 c.-15G>T c.(-17--13)GAGGC>GATGC NM_144676 NP_653277 Q8WW62 TMED6_HUMAN transmembrane emp24 protein transport domain transport endoplasmic reticulum membrane|integral to membrane ovary(1) 1 TTTCTGGAGCCTCCTCTGCAG 0.537 NaN 1 0 0.00448238 0.004482 0.00479366 8 32 C16orf7 9605 broad.mit.edu 37 16 89774351 89774351 + Missense_Mutation SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr16:89774351C>T uc002fom.1 - 15 1939 c.1814G>A c.(1813-1815)GGA>GAA p.G605E C16orf7_uc002fol.1_Missense_Mutation_p.G535E NM_004913 NP_004904 Q9Y2B5 CP007_HUMAN chromosome 16 open reading frame 7 605 VPS9. ATP synthesis coupled proton transport GTPase activator activity|transporter activity 0 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0273) GCCCTCCTCTCCGATCAGGTA 0.622 NaN 0 0 0 0.024245 0 11 77 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr17:7577538C>T uc002gim.2 - 7 937 c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GATGGGCCTCCGGTTCATGCC 0.572 R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.01441 0 54 34 GUCY2D 3000 broad.mit.edu 37 17 7917216 7917216 + Missense_Mutation SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr17:7917216G>A uc002gjt.2 + 12 2356 c.2282G>A c.(2281-2283)CGG>CAG p.R761Q NM_000180 NP_000171 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 761 Protein kinase.|Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) CAGAGGGTGCGGAGCCCCCCT 0.622 NaN 0 0 0 0.024245 0 15 148 RAPGEFL1 51195 broad.mit.edu 37 17 38347663 38347663 + Silent SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr17:38347663C>T uc010cwu.1 + 9 1303 c.813C>T c.(811-813)CAC>CAT p.H271H RAPGEFL1_uc010wfd.1_Silent_p.H207H NM_016339 NP_057423 Q9UHV5 RPGFL_HUMAN Rap guanine nucleotide exchange factor 477 Ras-GEF. G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction intracellular|membrane fraction guanyl-nucleotide exchange factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 AGGTCACGCACTGGGTGGCCA 0.682 NaN 0 0 0 0.020292 0 12 22 KRTAP4-11 653240 broad.mit.edu 37 17 39274427 39274427 + Silent SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr17:39274427G>A uc002hvz.2 - 1 180 c.141C>T c.(139-141)TCC>TCT p.S47S NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 47 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].|5. Missing (in allele KAP4.14). keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGCAGCAGCTGGACACACAGC 0.677 NaN 0 0 0 0.0333 0 14 194 DTNA 1837 broad.mit.edu 37 18 32418763 32418763 + Silent SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr18:32418763C>T uc010dmn.1 + 12 1228 c.1227C>T c.(1225-1227)ATC>ATT p.I409I DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Intron|DTNA_uc002kxw.2_Intron|DTNA_uc010dmj.2_Intron|DTNA_uc002kxz.2_Intron|DTNA_uc002kxy.2_Intron|DTNA_uc010dml.2_Intron|DTNA_uc002kyb.3_Silent_p.I406I|DTNA_uc010dmm.2_Silent_p.I409I|DTNA_uc010xby.1_Intron|DTNA_uc010dmo.2_Intron|DTNA_uc002kyd.3_Intron|DTNA_uc010xbz.1_Silent_p.I118I|DTNA_uc010xca.1_Intron|DTNA_uc002kye.2_Intron NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN dystrobrevin alpha isoform 1 409 Syntrophin-binding region. neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding 0 ATGTTCTCATCGGGTTGTATG 0.502 NaN 0 0 0 0.021553 0 6 83 SMAD7 4092 broad.mit.edu 37 18 46448082 46448082 + Missense_Mutation SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr18:46448082C>T uc002ldg.2 - 4 1228 c.941G>A c.(940-942)CGG>CAG p.R314Q SMAD7_uc002ldf.2_Missense_Mutation_p.R126Q|SMAD7_uc010xde.1_Missense_Mutation_p.R99Q NM_005904 NP_005895 O15105 SMAD7_HUMAN SMAD family member 7 314 MH2. adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding 0 Colorectal(1;0.0518) GATTTTGCTCCGCACCTTCTG 0.557 NaN 0 0 0 0.012319 0 21 60 CXXC1 30827 broad.mit.edu 37 18 47812525 47812525 + Missense_Mutation SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr18:47812525C>T uc002leq.3 - 4 1059 c.326G>A c.(325-327)CGC>CAC p.R109H CXXC1_uc002lep.3_5'UTR|CXXC1_uc002ler.3_Missense_Mutation_p.R109H|CXXC1_uc010doy.2_Missense_Mutation_p.R109H|CXXC1_uc002les.2_Missense_Mutation_p.R109H NM_014593 NP_055408 Q9P0U4 CXXC1_HUMAN CXXC finger 1 (PHD domain) isoform 2 109 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 AGGCCTCTTGCGCCCTCCACC 0.642 NaN 0 0 0 0.01441 0 56 126 DOK6 220164 broad.mit.edu 37 18 67365704 67365704 + Silent SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr18:67365704G>A uc002lkl.2 + 5 664 c.474G>A c.(472-474)CAG>CAA p.Q158Q NM_152721 NP_689934 Q6PKX4 DOK6_HUMAN docking protein 6 158 IRS-type PTB. insulin receptor binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Colorectal(73;0.083)|Esophageal squamous(42;0.131) GCACAATGCAGATCACTCATG 0.438 NaN 0 0 0 0.006122 0 17 46 SMARCA4 6597 broad.mit.edu 37 19 11141426 11141426 + Missense_Mutation SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr19:11141426C>T uc002mqf.3 + 25 3687 c.3403C>T c.(3403-3405)CGG>TGG p.R1135W SMARCA4_uc010dxp.2_Missense_Mutation_p.R1135W|SMARCA4_uc010dxo.2_Missense_Mutation_p.R1135W|SMARCA4_uc002mqg.1_Missense_Mutation_p.R1135W|SMARCA4_uc010dxq.2_Missense_Mutation_p.R1135W|SMARCA4_uc010dxr.2_Missense_Mutation_p.R1135W|SMARCA4_uc002mqj.3_Missense_Mutation_p.R1135W|SMARCA4_uc010dxs.2_Missense_Mutation_p.R1135W|SMARCA4_uc010dxt.1_Missense_Mutation_p.R355W|SMARCA4_uc002mqh.3_Missense_Mutation_p.R258W|SMARCA4_uc002mqi.1_Missense_Mutation_p.R338W NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 1135 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) GGCGGAGGACCGGGGCATGCT 0.632 NaN F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 0 0 0 0.014758 0 4 27 ANO8 57719 broad.mit.edu 37 19 17435648 17435648 + Missense_Mutation SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr19:17435648C>T uc002ngf.2 - 17 3368 c.3209G>A c.(3208-3210)GGC>GAC p.G1070D ANO8_uc010eap.2_RNA NM_020959 NP_066010 Q9HCE9 ANO8_HUMAN anoctamin 8 1070 Extracellular (Potential). chloride channel complex chloride channel activity ovary(3) 3 GGCCTGCCCGCCCGCCCCGTT 0.711 NaN 0 0 0 0.024245 0 15 99 TSHZ3 57616 broad.mit.edu 37 19 31770237 31770237 + Silent SNP A A G TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr19:31770237A>G uc002nsy.3 - 2 527 c.462T>C c.(460-462)AGT>AGC p.S154S NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 154 Ser-rich. 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) tgctgctgctactgctgctgc 0.448 NaN 0 0 0 0.00308 0 6 265 CD22 933 broad.mit.edu 37 19 35837577 35837577 + Missense_Mutation SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr19:35837577G>A uc010edt.2 + 14 2598 c.2521G>A c.(2521-2523)GAC>AAC p.D841N CD22_uc010xst.1_Missense_Mutation_p.D669N|CD22_uc010edu.2_Missense_Mutation_p.D753N|CD22_uc010edv.2_3'UTR|CD22_uc002nzb.3_Missense_Mutation_p.D664N|CD22_uc010edx.2_RNA NM_001771 NP_001762 P20273 CD22_HUMAN CD22 molecule precursor 841 ITIM motif 4.|Cytoplasmic (Potential). cell adhesion protein binding|sugar binding ovary(5)|lung(3)|breast(1) 9 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) AGAAAATGTGGACTATGTGAT 0.562 NaN 0 0 0 0.004482 0 8 13 ZFP82 284406 broad.mit.edu 37 19 36896541 36896541 + Missense_Mutation SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr19:36896541G>A uc002ody.1 - 4 405 c.170C>T c.(169-171)TCA>TTA p.S57L NM_133466 NP_597723 Q8N141 ZFP82_HUMAN zinc finger protein 82 homolog 57 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 TTGCTCCAATGAGGAAATCAC 0.383 NaN 0 0 0 0.01441 0 62 101 ZNF529 57711 broad.mit.edu 37 19 37037947 37037947 + Missense_Mutation SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr19:37037947G>A uc002oeh.3 - 5 1715 c.1513C>T c.(1513-1515)CCC>TCC p.P505S ZNF529_uc010xth.1_Missense_Mutation_p.P505S|ZNF529_uc010xti.1_Missense_Mutation_p.P487S|ZNF529_uc002oeg.3_Missense_Mutation_p.P400S NM_020951 NP_066002 Q6P280 ZN529_HUMAN zinc finger protein 529 isoform a 472 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Esophageal squamous(110;0.198) CATTCATAGGGTTTTTCTCCA 0.403 NaN 0 0 0 0.009096 0 4 19 SIGLEC12 89858 broad.mit.edu 37 19 52002805 52002805 + Missense_Mutation SNP G G A rs149053840 TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr19:52002805G>A uc002pwx.1 - 3 1030 c.974C>T c.(973-975)TCG>TTG p.S325L SIGLEC12_uc002pww.1_Missense_Mutation_p.S207L|SIGLEC12_uc010eoy.1_Missense_Mutation_p.S52L NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN sialic acid binding immunoglobulin-like 325 Ig-like C2-type 1.|Extracellular (Potential). cell adhesion integral to membrane sugar binding ovary(3)|skin(2) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) GCTGAGCATCGAGGAGCGAGT 0.667 NaN 0 0 0 0.010729 0 12 89 ZNF471 57573 broad.mit.edu 37 19 57035702 57035702 + Missense_Mutation SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr19:57035702C>T uc002qnh.2 + 5 399 c.266C>T c.(265-267)TCT>TTT p.S89F NM_020813 NP_065864 Q9BX82 ZN471_HUMAN zinc finger protein 471 89 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) GATTGGGAATCTATATATGTG 0.333 NaN 0 0 0 0.024245 0 13 72 ZNF586 54807 broad.mit.edu 37 19 58290574 58290574 + Missense_Mutation SNP G G C TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr19:58290574G>C uc002qqd.2 + 3 805 c.619G>C c.(619-621)GAA>CAA p.E207Q ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_Missense_Mutation_p.M164I|ZNF586_uc010euh.2_Missense_Mutation_p.E164Q|ZNF586_uc002qqf.1_Intron NM_017652 NP_060122 Q9NXT0 ZN586_HUMAN zinc finger protein 586 207 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AAAGCGTTATGAATGCAATGA 0.428 NaN 0 0 0 0.02938 0 7 150 ZNF586 54807 broad.mit.edu 37 19 58290633 58290633 + Missense_Mutation SNP G G C TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr19:58290633G>C uc002qqd.2 + 3 864 c.678G>C c.(676-678)AGG>AGC p.R226S ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_Missense_Mutation_p.G184A|ZNF586_uc010euh.2_Missense_Mutation_p.R183S|ZNF586_uc002qqf.1_Intron NM_017652 NP_060122 Q9NXT0 ZN586_HUMAN zinc finger protein 586 226 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AACACAGGAGGATTCACACTG 0.418 NaN 0 0 0 0.010729 0 10 157 PROKR1 10887 broad.mit.edu 37 2 68882436 68882436 + Missense_Mutation SNP A A C TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr2:68882436A>C uc010yqj.1 + 2 910 c.910A>C c.(910-912)ACC>CCC p.T304P PROKR1_uc002ses.2_RNA NM_138964 NP_620414 Q8TCW9 PKR1_HUMAN G protein-coupled receptor 73 304 Extracellular (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(1) 1 CTACGGCTTCACCATCGTGCG 0.587 NaN 0 0 0 0.010729 0 11 93 FBXO41 150726 broad.mit.edu 37 2 73492583 73492583 + Missense_Mutation SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr2:73492583C>T uc002sjb.1 - 5 1574 c.1574G>A c.(1573-1575)CGC>CAC p.R525H NM_001080410 NP_001073879 Q8TF61 FBX41_HUMAN F-box protein 41 464 intracellular protein binding|zinc ion binding breast(2)|pancreas(1) 3 GATGGCCTGGCGCCGCAGGCC 0.701 NaN 0 0 0 0.004672 0 3 29 WBP1 23559 broad.mit.edu 37 2 74687437 74687437 + Missense_Mutation SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr2:74687437C>T uc002slj.1 + 4 592 c.439C>T c.(439-441)CGC>TGC p.R147C WBP1_uc002slh.1_RNA|INO80B_uc002sli.1_RNA|WBP1_uc002slk.1_Missense_Mutation_p.R144C|WBP1_uc002sll.1_RNA NM_012477 NP_036609 Q96G27 WBP1_HUMAN WW domain binding protein 1 147 WW domain binding 0 GGCCCCAGGCCGCCCCTTGAC 0.602 NaN 0 0 0 0.01441 0 51 247 SLC4A10 57282 broad.mit.edu 37 2 162820755 162820755 + Missense_Mutation SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr2:162820755G>A uc002ubx.3 + 22 3157 c.2973G>A c.(2971-2973)ATG>ATA p.M991I SLC4A10_uc002uby.3_Missense_Mutation_p.M961I|SLC4A10_uc010zcs.1_Missense_Mutation_p.M972I NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 991 Extracellular (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 TTATTCAGATGAGTTGCCTTG 0.393 NaN 0 0 0 0.009096 0 3 23 TTN 7273 broad.mit.edu 37 2 179408943 179408943 + Missense_Mutation SNP G G T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr2:179408943G>T uc010zfg.1 - 294 88533 c.88309C>A c.(88309-88311)CCC>ACC p.P29437T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P23132T|TTN_uc010zfi.1_Missense_Mutation_p.P23065T|TTN_uc010zfj.1_Missense_Mutation_p.P22940T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30364 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) CTTTCCACGGGCTCAATTTCA 0.388 NaN 1 0 0.00307968 0.00308 0.00331658 7 54 TTN 7273 broad.mit.edu 37 2 179591911 179591911 + Missense_Mutation SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr2:179591911C>T uc010zfg.1 - 66 16673 c.16449G>A c.(16447-16449)ATG>ATA p.M5483I TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.M2144I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6410 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) TGAGATTGTTCATCTGTATGA 0.453 NaN 0 0 0 0.014758 0 5 78 ZNF804A 91752 broad.mit.edu 37 2 185801399 185801399 + Missense_Mutation SNP G G T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr2:185801399G>T uc002uph.2 + 4 1870 c.1276G>T c.(1276-1278)GTA>TTA p.V426L NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 426 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 TGAGCCATTTGTACCTGTCCT 0.373 NaN 1 0 1.5739e-10 0.028581 1.82241e-10 16 85 ZNF142 7701 broad.mit.edu 37 2 219514052 219514052 + Silent SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr2:219514052G>A uc002vin.2 - 6 1015 c.579C>T c.(577-579)TGC>TGT p.C193C ZNF142_uc002vil.2_Silent_p.C154C|ZNF142_uc010fvt.2_Silent_p.C30C|ZNF142_uc002vim.2_Silent_p.C30C NM_001105537 NP_001099007 P52746 ZN142_HUMAN zinc finger protein 142 193 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GGCAGTTAGGGCACTGGAGGC 0.557 NaN OREG0015202 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.020292 0 13 37 KIF1A 547 broad.mit.edu 37 2 241710435 241710435 + Missense_Mutation SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr2:241710435G>A uc002vzy.2 - 14 1413 c.1267C>T c.(1267-1269)CGC>TGC p.R423C KIF1A_uc010fzk.2_Missense_Mutation_p.R432C|KIF1A_uc002vzz.1_Missense_Mutation_p.R432C NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 423 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) AACAAGATGCGCTCGTGGAGG 0.647 NaN 0 0 0 0.025465 0 38 80 KIF16B 55614 broad.mit.edu 37 20 16359928 16359928 + Missense_Mutation SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr20:16359928G>A uc002wpg.1 - 19 2877 c.2719C>T c.(2719-2721)CGC>TGC p.R907C KIF16B_uc002wpe.1_Missense_Mutation_p.R289C|KIF16B_uc002wpf.1_Missense_Mutation_p.R289C|KIF16B_uc010gch.1_Missense_Mutation_p.R907C|KIF16B_uc010gci.1_Missense_Mutation_p.R907C|KIF16B_uc010gcj.1_Missense_Mutation_p.R918C NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 907 Glu-rich. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 TGTAGCTGGCGTTCTTTATAT 0.438 NaN 0 0 0 0.021553 0 4 63 ASXL1 171023 broad.mit.edu 37 20 31021631 31021631 + Missense_Mutation SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr20:31021631G>A uc002wxs.2 + 11 2056 c.1630G>A c.(1630-1632)GAT>AAT p.D544N ASXL1_uc010geb.2_Missense_Mutation_p.D435N NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 544 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 CCGGCTTGAAGATCGTCAGTC 0.532 NaN F|N|Mis MDS|CMML 0 0 0 0.013537 0 13 209 ZNFX1 57169 broad.mit.edu 37 20 47863986 47863986 + Missense_Mutation SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr20:47863986C>T uc002xui.2 - 14 5822 c.5575G>A c.(5575-5577)GAT>AAT p.D1859N NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1859 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CCCCCACAATCGCCAATCACA 0.517 NaN 0 0 0 0.01441 0 52 114 NCAM2 4685 broad.mit.edu 37 21 22696785 22696785 + Silent SNP C C A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr21:22696785C>A uc002yld.1 + 6 951 c.702C>A c.(700-702)GCC>GCA p.A234A NCAM2_uc011acb.1_Silent_p.A92A|NCAM2_uc011acc.1_Silent_p.A259A NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 234 Ig-like C2-type 3.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) CCTGCAGGGCCTCAGGCTCTC 0.507 NaN 1 0 5.18039e-06 0.00308 5.73943e-06 7 107 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45130923 45130923 + Missense_Mutation SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr22:45130923G>A uc003bfd.2 + 7 844 c.572G>A c.(571-573)AGG>AAG p.R191K PRR5_uc003bew.1_Missense_Mutation_p.R182K|PRR5_uc003bex.1_Missense_Mutation_p.R96K|PRR5_uc010gzt.1_Missense_Mutation_p.R214K|PRR5_uc010gzu.1_Missense_Mutation_p.R155K|PRR5_uc003bey.1_Missense_Mutation_p.R182K|PRR5_uc003bez.1_Missense_Mutation_p.R96K|PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|PRR5_uc003bfa.1_Missense_Mutation_p.R84K|PRR5_uc003bfb.1_Missense_Mutation_p.R191K|PRR5_uc003bfe.1_Intron|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5_uc003bfh.1_Missense_Mutation_p.R90K NM_181335 NP_851852 Rho GTPase activating protein 8 isoform 2 skin(2) 2 CATGAGTCCAGGGGCGTGACT 0.652 NaN 0 0 0 0.02938 0 7 59 CNOT10 25904 broad.mit.edu 37 3 32811403 32811403 + Missense_Mutation SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr3:32811403G>A uc003cfc.1 + 18 2284 c.2029G>A c.(2029-2031)GAG>AAG p.E677K CNOT10_uc003cfd.1_Missense_Mutation_p.E676K|CNOT10_uc003cfe.1_Missense_Mutation_p.E650K|CNOT10_uc010hfv.1_Intron|CNOT10_uc011axj.1_Missense_Mutation_p.E737K|CNOT10_uc010hfw.1_Missense_Mutation_p.E372K NM_015442 NP_056257 Q9H9A5 CNOTA_HUMAN CCR4-NOT transcription complex, subunit 10 677 nuclear-transcribed mRNA poly(A) tail shortening cytosol protein binding central_nervous_system(1)|skin(1) 2 CCATCCTAAAGAGGTGCCCCC 0.453 NaN 0 0 0 0.013537 0 10 91 KBTBD5 131377 broad.mit.edu 37 3 42732383 42732383 + Missense_Mutation SNP G G A rs144187563 TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr3:42732383G>A uc003clv.1 + 5 1740 c.1640G>A c.(1639-1641)CGT>CAT p.R547H NM_152393 NP_689606 Q2TBA0 KBTB5_HUMAN kelch repeat and BTB (POZ) domain containing 5 547 Kelch 4. ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.214) CCACAGGAGCGTAGCTCACTC 0.617 NaN 0 0 0 0.008291 0 8 74 CCR5 1234 broad.mit.edu 37 3 46415257 46415257 + Silent SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr3:46415257G>A uc003cpo.3 + 3 986 c.864G>A c.(862-864)ACG>ACA p.T288T CCR5_uc010hjd.2_Silent_p.T288T NM_001100168 NP_001093638 P51681 CCR5_HUMAN chemokine (C-C motif) receptor 5 288 Helical; Name=7; (Potential). T -> M (in INCCR5-72A). cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection endosome|external side of plasma membrane|integral to plasma membrane actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) Maraviroc(DB04835) TTGGGATGACGCACTGCTGCA 0.473 NaN 0 0 0 0.021523 0 24 376 RHOA 387 broad.mit.edu 37 3 49412958 49412958 + Missense_Mutation SNP A A G TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 A G A A Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr3:49412958A>G uc003cwu.2 - 2 341 c.65T>C c.(64-66)CTC>CCC p.L22P RHOA_uc010hku.2_Intron NM_001664 NP_001655 P61586 RHOA_HUMAN ras homolog gene family, member A precursor 22 axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) GAAGACTATGAGCAAGCATGT 0.473 NaN 0 0 0 0.030466 0 42 82 VPRBP 9730 broad.mit.edu 37 3 51457623 51457623 + Missense_Mutation SNP C C T rs114108730 by1000genomes TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr3:51457623C>T uc003dbe.1 - 14 2969 c.2801G>A c.(2800-2802)CGG>CAG p.R934Q VPRBP_uc003dbf.1_Missense_Mutation_p.R210Q NM_014703 NP_055518 Q9Y4B6 VPRBP_HUMAN HIV-1 Vpr binding protein 934 interspecies interaction between organisms cytoplasm|nucleus protein binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) CTGGGGGGGCCGTGGCTGAGG 0.597 NaN 0 0 0 0.024245 0 15 47 SENP7 57337 broad.mit.edu 37 3 101212807 101212807 + Silent SNP T T C TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr3:101212807T>C uc003dut.2 - 3 207 c.96A>G c.(94-96)AGA>AGG p.R32R SENP7_uc003duu.2_Silent_p.R32R|SENP7_uc003duv.2_5'UTR|SENP7_uc003duw.2_Silent_p.R32R|SENP7_uc003dux.2_5'UTR NM_020654 NP_065705 Q9BQF6 SENP7_HUMAN sentrin/SUMO-specific protease 7 isoform 1 32 proteolysis nucleus cysteine-type peptidase activity ovary(3)|lung(2) 5 TTAACATCTTTCTTATCTGAA 0.358 NaN 0 0 0 0.0333 0 14 28 STXBP5L 9515 broad.mit.edu 37 3 121137298 121137298 + Missense_Mutation SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr3:121137298G>A uc003eec.3 + 27 3553 c.3413G>A c.(3412-3414)CGT>CAT p.R1138H STXBP5L_uc011bji.1_Missense_Mutation_p.R1114H NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 1138 v-SNARE coiled-coil homology. exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) GAGCTGACCCGTGCACGGATT 0.532 NaN 0 0 0 0.013726 0 32 32 KALRN 8997 broad.mit.edu 37 3 124132333 124132333 + Missense_Mutation SNP A A G TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr3:124132333A>G uc003ehg.2 + 14 2484 c.2357A>G c.(2356-2358)GAC>GGC p.D786G KALRN_uc010hrv.1_Missense_Mutation_p.D786G|KALRN_uc003ehf.1_Missense_Mutation_p.D786G|KALRN_uc011bjy.1_Missense_Mutation_p.D786G|KALRN_uc003ehh.1_Missense_Mutation_p.D132G NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 786 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 GCAGAGCTAGACGCCTGGAAT 0.527 NaN 0 0 0 0.014758 0 5 40 MUC4 4585 broad.mit.edu 37 3 195515077 195515077 + Missense_Mutation SNP T T C TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr3:195515077T>C uc011bto.1 - 2 3834 c.3374A>G c.(3373-3375)GAC>GGC p.D1125G MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGAGGAAGTGTCGGTGACAGG 0.557 NaN 0 0 0 0.004672 0 2 6 MXD4 10608 broad.mit.edu 37 4 2254190 2254190 + Missense_Mutation SNP T T C TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr4:2254190T>C uc003geu.1 - 4 286 c.254A>G c.(253-255)GAC>GGC p.D85G NM_006454 NP_006445 Q14582 MAD4_HUMAN MAD4 85 Helix-loop-helix motif. negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|transcription corepressor activity 0 GCGGGTGCTGTCGGGGCCCAG 0.637 NaN 0 0 0 0.013537 0 13 50 PPP2R2C 5522 broad.mit.edu 37 4 6473933 6473933 + Silent SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr4:6473933C>T uc003gjc.2 - 1 394 c.24G>A c.(22-24)CGG>CGA p.R8R PPP2R2C_uc011bwd.1_Intron|PPP2R2C_uc011bwe.1_Intron NM_020416 NP_065149 Q9Y2T4 2ABG_HUMAN gamma isoform of regulatory subunit B55, protein 8 signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 GGTTAATTTTCCGCGTGTCCG 0.667 NaN 0 0 0 0.015359 0 31 237 SORCS2 57537 broad.mit.edu 37 4 7725484 7725484 + Missense_Mutation SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr4:7725484G>A uc003gkb.3 + 19 2485 c.2485G>A c.(2485-2487)GTG>ATG p.V829M SORCS2_uc011bwi.1_Missense_Mutation_p.V657M NM_020777 NP_065828 Q96PQ0 SORC2_HUMAN VPS10 domain receptor protein SORCS 2 precursor 829 PKD.|Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(1)|central_nervous_system(1) 2 GGCCATGTACGTGAACCTTAC 0.607 NaN 0 0 0 0.010504 0 19 185 ANKRD50 57182 broad.mit.edu 37 4 125591960 125591960 + Silent SNP T T C TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr4:125591960T>C uc003ifg.3 - 3 2738 c.2472A>G c.(2470-2472)CAA>CAG p.Q824Q ANKRD50_uc011cgo.1_Silent_p.Q645Q|ANKRD50_uc010inw.2_Silent_p.Q824Q NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 824 ANK 11. central_nervous_system(1) 1 CAACATTTCCTTGTGCTGAAG 0.438 NaN 0 0 0 0.00308 0 8 86 UGT3A1 133688 broad.mit.edu 37 5 35957445 35957445 + Missense_Mutation SNP T T C TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr5:35957445T>C uc003jjv.1 - 5 1077 c.920A>G c.(919-921)CAT>CGT p.H307R UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.H307R|UGT3A1_uc011cor.1_Missense_Mutation_p.H273R NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 307 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTGGGACTGATGGGTGTTCAA 0.488 NaN 0 0 0 0.02938 0 5 55 NSA2 10412 broad.mit.edu 37 5 74069827 74069827 + Silent SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr5:74069827C>T uc003kdk.1 + 5 740 c.657C>T c.(655-657)GTC>GTT p.V219V NM_014886 NP_055701 O95478 NSA2_HUMAN NSA2 ribosome biogenesis homolog 219 rRNA processing nucleolus|ribonucleoprotein complex ovary(1) 1 AAGGTACTGTCATTGAAGTAA 0.423 NaN 0 0 0 0.00308 0 7 79 PPIP5K2 23262 broad.mit.edu 37 5 102502895 102502895 + Missense_Mutation SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr5:102502895G>A uc003kod.3 + 18 2452 c.1933G>A c.(1933-1935)GGA>AGA p.G645R PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.G645R|PPIP5K2_uc003kof.2_5'Flank NM_015216 NP_056031 O43314 VIP2_HUMAN Histidine acid phosphatase domain containing 1 645 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity ovary(1)|skin(1) 2 TACTCCATCTGGAAGCATTTC 0.294 NaN 0 0 0 0.02938 0 6 38 PHF15 23338 broad.mit.edu 37 5 133914401 133914401 + Silent SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr5:133914401C>T uc003kzo.1 + 11 1946 c.1767C>T c.(1765-1767)GAC>GAT p.D589D PHF15_uc011cxt.1_Silent_p.D633D|PHF15_uc003kzk.2_Silent_p.D649D|PHF15_uc003kzl.2_3'UTR|PHF15_uc003kzm.2_Silent_p.D590D|PHF15_uc003kzn.2_3'UTR NM_015288 NP_056103 Q9NQC1 JADE2_HUMAN PHD finger protein 15 589 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GACCTGGTGACCCTGCTAGGA 0.662 NaN 0 0 0 0.02938 0 6 32 FGFR4 2264 broad.mit.edu 37 5 176520735 176520735 + Missense_Mutation SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr5:176520735G>A uc003mfl.2 + 11 1645 c.1478G>A c.(1477-1479)CGG>CAG p.R493Q FGFR4_uc003mfm.2_Missense_Mutation_p.R493Q|FGFR4_uc011dfu.1_Missense_Mutation_p.R425Q|FGFR4_uc003mfo.2_Missense_Mutation_p.R453Q NM_002011 NP_002002 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 isoform 1 493 Protein kinase.|Cytoplasmic (Potential). insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1) 16 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) GACCCTGCCCGGCCTGACCAA 0.453 NaN TSP Lung(9;0.080) 0 0 0 0.014758 0 5 42 BTN2A2 10385 broad.mit.edu 37 6 26384093 26384093 + Missense_Mutation SNP T T C TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr6:26384093T>C uc003nhq.2 + 2 130 c.44T>C c.(43-45)CTC>CCC p.L15P BTN2A2_uc011dkf.1_Missense_Mutation_p.L15P|BTN2A2_uc011dkg.1_Missense_Mutation_p.L15P|BTN2A2_uc003nhr.2_Missense_Mutation_p.L15P|BTN2A2_uc011dkh.1_Missense_Mutation_p.L15P|BTN2A2_uc003nhs.2_Missense_Mutation_p.L15P|BTN2A2_uc003nht.2_Missense_Mutation_p.L15P NM_006995 NP_008926 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 isoform a 15 negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane 0 CCAGCCTCcctcctcctcctc 0.483 NaN 0 0 0 0.021553 0 3 101 PBX2 5089 broad.mit.edu 37 6 32154671 32154671 + Silent SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr6:32154671G>A uc003oav.1 - 7 1303 c.1032C>T c.(1030-1032)GGC>GGT p.G344G AGER_uc003oar.2_5'Flank|AGER_uc011dpm.1_5'Flank|AGER_uc011dpn.1_5'Flank|AGER_uc003oal.1_5'Flank|AGER_uc010jtv.1_5'Flank|AGER_uc011dpo.1_5'Flank|AGER_uc003oam.1_5'Flank|AGER_uc003oan.1_5'Flank|AGER_uc003oap.1_5'Flank|AGER_uc003oat.1_5'Flank|AGER_uc003oao.1_5'Flank|AGER_uc003oaq.1_5'Flank|AGER_uc010jtw.1_5'Flank|AGER_uc003oas.1_5'Flank|AGER_uc003oau.1_5'Flank|AGER_uc011dpp.1_5'Flank|AGER_uc011dpq.1_5'Flank|AGER_uc011dpr.1_5'Flank|AGER_uc011dps.1_5'Flank NM_002586 NP_002577 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 344 transcription factor binding ovary(1) 1 TGAAAGAGCCGCCAGAGCCTT 0.527 NaN 0 0 0 0.004672 0 3 49 PNRC1 10957 broad.mit.edu 37 6 89793784 89793784 + Missense_Mutation SNP A A T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr6:89793784A>T uc003pmv.2 + 2 1038 c.853A>T c.(853-855)AGT>TGT p.S285C PNRC1_uc003pmx.2_Missense_Mutation_p.S100C NM_006813 NP_006804 Q12796 PNRC1_HUMAN proline-rich nuclear receptor coactivator 1 285 SH3-binding. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding 0 all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.102) GGCAAAGTTTAGTGATCCACC 0.408 NaN Multiple Myeloma(7;0.094) 0 0 0 0.004672 0 3 57 REV3L 5980 broad.mit.edu 37 6 111688580 111688580 + Silent SNP T T C TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr6:111688580T>C uc003puy.3 - 14 6734 c.6411A>G c.(6409-6411)AAA>AAG p.K2137K REV3L_uc003pux.3_Silent_p.K2059K|REV3L_uc003puz.3_Silent_p.K2059K|REV3L_uc003pva.1_RNA NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 2137 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CATTTAATGCTTTGGAATCTG 0.378 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.028581 0 14 109 CTAGE9 643854 broad.mit.edu 37 6 132031779 132031779 + Missense_Mutation SNP T T C TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr6:132031779T>C uc011ece.1 - 1 379 c.379A>G c.(379-381)AGT>GGT p.S127G ENPP3_uc003qcu.3_Intron|ENPP3_uc010kfq.2_Intron|ENPP3_uc003qcv.2_Intron NM_001145659 NP_001139131 A4FU28 CTGE9_HUMAN CTAGE family, member 4-like 127 Potential. integral to membrane 0 GCCTCCAAACTTCGTGCTTCT 0.403 NaN 0 0 0 0.014323 0 18 107 FNDC1 84624 broad.mit.edu 37 6 159654483 159654483 + Missense_Mutation SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr6:159654483G>A uc010kjv.2 + 11 3139 c.2939G>A c.(2938-2940)CGT>CAT p.R980H FNDC1_uc010kjw.1_Missense_Mutation_p.R865H NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 980 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) TCCCCTGCTCGTCCGCCCGCA 0.662 NaN 0 0 0 0.006214 0 5 15 MEOX2 4223 broad.mit.edu 37 7 15652118 15652118 + Nonsense_Mutation SNP G G C TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr7:15652118G>C uc003stc.2 - 3 1090 c.809C>G c.(808-810)TCA>TGA p.S270* MEOX2_uc011jxw.1_Nonsense_Mutation_p.S270* NM_005924 NP_005915 P50222 MEOX2_HUMAN mesenchyme homeobox 2 270 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) CGACAGCTCTGATGGGAGAAG 0.537 NaN 0 0 0 0.006214 0 10 176 CRHR2 1395 broad.mit.edu 37 7 30704745 30704745 + Nonsense_Mutation SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr7:30704745G>A uc003tbn.2 - 5 728 c.484C>T c.(484-486)CGA>TGA p.R162* CRHR2_uc010kvw.1_Nonsense_Mutation_p.R162*|CRHR2_uc010kvx.1_Nonsense_Mutation_p.R161*|CRHR2_uc010kvy.1_5'UTR|CRHR2_uc003tbo.2_Nonsense_Mutation_p.R148*|CRHR2_uc003tbp.2_Nonsense_Mutation_p.R189* NM_001883 NP_001874 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 162 Helical; Name=2; (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding lung(2)|ovary(1)|skin(1) 4 ATGACATTTCGCAGGATAAAG 0.572 NaN 0 0 0 0.02938 0 6 81 SBDS 51119 broad.mit.edu 37 7 66459244 66459244 + Silent SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr7:66459244G>A uc003tvm.1 - 2 397 c.213C>T c.(211-213)CTC>CTT p.L71L TYW1_uc003tvn.2_5'Flank|TYW1_uc010lai.2_5'Flank NM_016038 NP_057122 Q9Y3A5 SBDS_HUMAN Shwachman-Bodian-Diamond syndrome protein 71 bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing cytoplasm|nucleolus|nucleoplasm|spindle pole microtubule binding|ribosome binding|rRNA binding ovary(1) 1 ACGCACTGATGAGATCTTCCT 0.428 NaN Gene Conversion AML|MDS Shwachman-Diamond_syndrome 0 0 0 0.013537 0 9 119 PPP1R9A 55607 broad.mit.edu 37 7 94917928 94917928 + Silent SNP T T C TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr7:94917928T>C uc003unp.2 + 15 3264 c.2982T>C c.(2980-2982)TCT>TCC p.S994S PPP1R9A_uc010lfj.2_Silent_p.S1270S|PPP1R9A_uc011kif.1_Silent_p.S1192S|PPP1R9A_uc003unq.2_Intron|PPP1R9A_uc011kig.1_Silent_p.S986S|PPP1R9A_uc003unr.2_Silent_p.S283S NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory (inhibitor) 994 Interacts with TGN38 (By similarity).|SAM. cell junction|synapse|synaptosome actin binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) AGCAGGTTTCTCACTGGTTAA 0.448 NaN HNSCC(28;0.073) 0 0 0 0.013537 0 12 100 MUC17 140453 broad.mit.edu 37 7 100679464 100679464 + Missense_Mutation SNP G G C TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr7:100679464G>C uc003uxp.1 + 3 4820 c.4767G>C c.(4765-4767)GAG>GAC p.E1589D MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1589 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|24. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TCAGTTCTGAGGCTAACACCC 0.488 NaN 0 0 0 0.021523 0 26 383 HYAL4 23553 broad.mit.edu 37 7 123516944 123516944 + Missense_Mutation SNP C C T rs150077532 byFrequency TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr7:123516944C>T uc003vlc.2 + 5 1819 c.1181C>T c.(1180-1182)GCG>GTG p.A394V HYAL4_uc011knz.1_3'UTR NM_012269 NP_036401 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 394 Extracellular (Potential). fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity skin(1) 1 ATGTGGAACGCGCCCAGTTAC 0.507 NaN 0 0 0 0.012319 0 21 72 CCDC136 64753 broad.mit.edu 37 7 128452358 128452358 + Missense_Mutation SNP G G C TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr7:128452358G>C uc003vnv.1 + 13 2900 c.2533G>C c.(2533-2535)GAC>CAC p.D845H CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Missense_Mutation_p.D661H|CCDC136_uc010llq.1_Missense_Mutation_p.D214H|CCDC136_uc003vny.1_Missense_Mutation_p.D455H NM_022742 NP_073579 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 845 integral to membrane protein binding ovary(2) 2 TGAGCCTGAAGACATGGAGGT 0.522 NaN 0 0 0 0.004672 0 3 15 OR2A12 346525 broad.mit.edu 37 7 143792375 143792375 + Missense_Mutation SNP T T C TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr7:143792375T>C uc011kty.1 + 1 175 c.175T>C c.(175-177)TAT>CAT p.Y59H NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, 59 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 Melanoma(164;0.0783) CACACCCATGTATGTCTTCCT 0.463 NaN 0 0 0 0.021553 0 5 109 CNTNAP2 26047 broad.mit.edu 37 7 147600794 147600794 + Missense_Mutation SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr7:147600794G>A uc003weu.1 + 14 2752 c.2236G>A c.(2236-2238)GAC>AAC p.D746N NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 746 Extracellular (Potential).|Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CTGTAACTGCGACGCGGACTA 0.547 NaN HNSCC(39;0.1) 0 0 0 0.004482 0 8 30 NOS3 4846 broad.mit.edu 37 7 150696071 150696071 + Missense_Mutation SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr7:150696071G>A uc003wif.2 + 8 1150 c.854G>A c.(853-855)CGC>CAC p.R285H NOS3_uc011kuy.1_Missense_Mutation_p.R79H|NOS3_uc011kuz.1_Missense_Mutation_p.R285H|NOS3_uc011kva.1_Missense_Mutation_p.R285H|NOS3_uc011kvb.1_Missense_Mutation_p.R285H NM_000603 NP_000594 P29474 NOS3_HUMAN nitric oxide synthase 3 isoform 1 285 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding central_nervous_system(5)|large_intestine(2)|skin(1) 8 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) GGAAACGGTCGCTTCGACGTG 0.672 NaN 0 0 0 0.017118 0 36 133 DLC1 10395 broad.mit.edu 37 8 12957624 12957624 + Missense_Mutation SNP C C G TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr8:12957624C>G uc003wwm.2 - 9 2666 c.2222G>C c.(2221-2223)AGC>ACC p.S741T DLC1_uc003wwk.1_Missense_Mutation_p.S304T|DLC1_uc003wwl.1_Missense_Mutation_p.S338T|DLC1_uc011kxx.1_Missense_Mutation_p.S230T NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 741 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 GCTGCTGCTGCTGGTCTGCGT 0.627 NaN 0 0 0 0.02938 0 6 82 VDAC3 7419 broad.mit.edu 37 8 42260958 42260958 + Silent SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr8:42260958G>A uc011lct.1 + 8 824 c.681G>A c.(679-681)CTG>CTA p.L227L VDAC3_uc003xpc.2_Silent_p.L228L NM_005662 NP_005653 Q9Y277 VDAC3_HUMAN voltage-dependent anion channel 3 isoform b 227 Beta stranded; (By similarity). adenine transport mitochondrial outer membrane|pore complex nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity upper_aerodigestive_tract(1) 1 all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024) Dihydroxyaluminium(DB01375) AGTACATGCTGGATTGTAGAA 0.413 NaN 0 0 0 0.009096 0 4 113 ZNF704 619279 broad.mit.edu 37 8 81582753 81582753 + Missense_Mutation SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr8:81582753C>T uc003yby.1 - 5 876 c.644G>A c.(643-645)CGA>CAA p.R215Q NM_001033723 NP_001028895 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 215 C2H2-type. intracellular zinc ion binding 0 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) ATGGATGGTTCGGATGTGTTT 0.527 NaN 0 0 0 0.016723 0 10 114 CTHRC1 115908 broad.mit.edu 37 8 104394752 104394752 + Missense_Mutation SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr8:104394752C>T uc003ylk.2 + 4 755 c.656C>T c.(655-657)TCA>TTA p.S219L NM_138455 NP_612464 Q96CG8 CTHR1_HUMAN collagen triple helix repeat containing 1 219 collagen ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) GGTACTTGTTCAGATTACCCA 0.373 NaN 0 0 0 0.024245 0 11 118 CTHRC1 115908 broad.mit.edu 37 8 104394804 104394804 + Silent SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr8:104394804C>T uc003ylk.2 + 4 807 c.708C>T c.(706-708)ATC>ATT p.I236I NM_138455 NP_612464 Q96CG8 CTHR1_HUMAN collagen triple helix repeat containing 1 236 collagen ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) TTTCTCGCATCATTATTGAAG 0.343 NaN 0 0 0 0.008291 0 9 92 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr9:20414343A>G uc003zoe.2 - 5 760 c.501T>C c.(499-501)AGT>AGC p.S167S MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.V129A NM_004529 NP_004520 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.139 NaN T MLL ALL 0 0 0 0.00308 0 4 33 BAAT 570 broad.mit.edu 37 9 104124824 104124824 + Silent SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr9:104124824C>T uc010mtd.2 - 4 1252 c.1143G>A c.(1141-1143)AGG>AGA p.R381R BAAT_uc004bbd.3_Silent_p.R381R NM_001127610 NP_001121082 Q14032 BAAT_HUMAN bile acid Coenzyme A: amino acid 381 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity ovary(1)|lung(1)|skin(1) 3 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) CCCAGTGTAACCTCAAATCGT 0.537 NaN 0 0 0 0.021553 0 6 47 AMBP 259 broad.mit.edu 37 9 116840418 116840418 + Silent SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr9:116840418C>T uc004bie.3 - 1 335 c.72G>A c.(70-72)ACG>ACA p.T24T AMBP_uc011lxk.1_5'Flank|AMBP_uc010mvc.1_RNA NM_001633 NP_001624 P02760 AMBP_HUMAN alpha-1-microglobulin/bikunin preproprotein 24 cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage extracellular region|plasma membrane calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity skin(1) 1 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) TGTCGGGCGGCGTTGGCACAG 0.617 NaN 0 0 0 0.006214 0 9 88 ACE2 59272 broad.mit.edu 37 X 15605982 15605982 + Splice_Site SNP C C A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chrX:15605982C>A uc004cxa.1 - 6 865 c.697_splice c.e6-1 p.I233_splice ACE2_uc004cxb.2_Splice_Site_p.I233_splice NM_021804 NP_068576 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 precursor angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding ovary(3) 3 Hepatocellular(33;0.183) Moexipril(DB00691) ATGGTTTAATCTGAAAAGCCC 0.368 NaN 1 0 2.32078e-09 0.024245 2.64741e-09 14 16 YY2 404281 broad.mit.edu 37 X 21863399 21863399 + Missense_Mutation SNP C C T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chrX:21863399C>T uc010nfq.2 + 3 532 c.335C>T c.(334-336)TCT>TTT p.S112F MBTPS2_uc004dae.2_Missense_Mutation_p.S112F|MBTPS2_uc004dab.2_Missense_Mutation_p.S112F NM_206923 NP_996806 O15391 TYY2_HUMAN YY2 transcription factor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(1)|skin(1) 2 tctccctcttcttattcttcc 0.249 NaN 0 0 0 0.006214 0 8 60 ARID1A 8289 broad.mit.edu 37 1 27057789 27057790 + Frame_Shift_Ins INS - - T TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 - T - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr1:27057789_27057790insT uc001bmv.1 + 3 1870_1871 c.1497_1498insT c.(1495-1500)TCGTATfs p.S499fs ARID1A_uc001bmt.1_Frame_Shift_Ins_p.S499fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.S499fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.S116fs NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 499_500 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 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) CCCAACCTTCGTATCAGCAGCA 0.604 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC NaN NaN NaN NaN NaN 240 357 --- --- C10orf71 118461 broad.mit.edu 37 10 50534970 50534971 + Frame_Shift_Del DEL AC AC - rs72337199 TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr10:50534970_50534971delAC uc010qgp.1 + 4 2408_2409 c.2069_2070delAC c.(2068-2070)AACfs p.N690fs NM_199459 NP_955629 Q711Q0 CJ071_HUMAN hypothetical protein LOC118461 isoform 2 690 0 AAAACAAGCAacacacacacac 0.406 NaN NaN NaN NaN NaN NaN 2 4 --- --- NLRP6 171389 broad.mit.edu 37 11 281553 281555 + In_Frame_Del DEL GAG GAG - TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr11:281553_281555delGAG uc010qvs.1 + 4 1819_1821 c.1819_1821delGAG c.(1819-1821)GAGdel p.E611del NLRP6_uc010qvt.1_In_Frame_Del_p.E611del NM_138329 NP_612202 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 611 Poly-Glu. cytoplasm ATP binding upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CGAAGAGCCAGAGGAGGAGGAGG 0.67 NaN NaN NaN NaN NaN NaN 7 187 --- --- FOXA1 3169 broad.mit.edu 37 14 38061857 38061858 + Frame_Shift_Ins INS - - A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 - A - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr14:38061857_38061858insA uc001wuf.2 - 2 443_444 c.131_132insT c.(130-132)ATGfs p.M44fs FOXA1_uc010tpz.1_Frame_Shift_Ins_p.M11fs NM_004496 NP_004487 P55317 FOXA1_HUMAN forkhead box A1 44 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding 0 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) TGTAGGTGTTCATGGAGTTCAT 0.614 NaN NaN NaN NaN NaN NaN 18 96 --- --- FAM104A 84923 broad.mit.edu 37 17 71223344 71223346 + In_Frame_Del DEL CTT CTT - TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr17:71223344_71223346delCTT uc002jji.3 - 2 367_369 c.279_281delAAG c.(277-282)AGAAGT>AGT p.R93del FAM104A_uc002jjj.3_In_Frame_Del_p.R93del NM_032837 NP_116226 Q969W3 F104A_HUMAN hypothetical protein LOC84923 isoform 2 93 0 LUSC - Lung squamous cell carcinoma(166;0.197) GTTTCTGCTACTTCTTTTGGTCT 0.409 NaN NaN NaN NaN NaN NaN 7 66 --- --- PRX 57716 broad.mit.edu 37 19 40900180 40900182 + In_Frame_Del DEL TCC TCC - TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr19:40900180_40900182delTCC uc002onr.2 - 7 4346_4348 c.4077_4079delGGA c.(4075-4080)GAGGAA>GAA p.1359_1360EE>E PRX_uc002onq.2_In_Frame_Del_p.1220_1221EE>E|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 1359_1360 Poly-Glu. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACTGCcctcttcctcctcctcct 0.606 NaN NaN NaN NaN NaN NaN 7 91 --- --- IRF2BP1 26145 broad.mit.edu 37 19 46388156 46388157 + Frame_Shift_Ins INS - - CA TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr19:46388156_46388157insCA uc002pds.1 - 1 1220_1221 c.876_877insTG c.(874-879)GTGGCTfs p.V292fs NM_015649 NP_056464 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 292_293 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) ATCTGGCGAGCCACTGCCAGGA 0.594 NaN NaN NaN NaN NaN NaN 9 126 --- --- ZNF341 84905 broad.mit.edu 37 20 32371588 32371589 + Frame_Shift_Ins INS - - G rs139829835 TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr20:32371588_32371589insG uc002wzy.2 + 12 1790_1791 c.1770_1771insG c.(1768-1773)AGCGGGfs p.S590fs ZNF341_uc002wzx.2_Frame_Shift_Ins_p.S583fs|ZNF341_uc010geq.2_Frame_Shift_Ins_p.S500fs|ZNF341_uc010ger.2_RNA NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN zinc finger protein 341 590_591 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CCCACGGCAGCGGGGGCAGGTT 0.614 NaN NaN NaN NaN NaN NaN 11 163 --- --- TMCC1 23023 broad.mit.edu 37 3 129546680 129546682 + In_Frame_Del DEL GCA GCA - TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr3:129546680_129546682delGCA uc003emz.3 - 4 1041_1043 c.540_542delTGC c.(538-543)GCTGCA>GCA p.180_181AA>A TMCC1_uc010htg.2_In_Frame_Del_p.66_67AA>A NM_001017395 NP_001017395 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 180_181 integral to membrane skin(1) 1 TGGTAGACATgcagcagcagcag 0.404 NaN NaN NaN NaN NaN NaN 7 64 --- --- PLEKHG4B 153478 broad.mit.edu 37 5 162962 162962 + Frame_Shift_Del DEL G G - TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr5:162962delG uc003jak.2 + 11 1757 c.1707delG c.(1705-1707)GTGfs p.V569fs NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 569 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) GGGCAGGTGTGGCAGTGCTGA 0.647 NaN NaN NaN NaN NaN NaN 2 4 --- --- E2F3 1871 broad.mit.edu 37 6 20402595 20402597 + In_Frame_Del DEL CGC CGC - TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr6:20402595_20402597delCGC uc003nda.2 + 1 459_461 c.132_134delCGC c.(130-135)TTCGCC>TTC p.A53del E2F3_uc003ncz.2_In_Frame_Del_p.A53del NM_001949 NP_001940 O00716 E2F3_HUMAN E2F transcription factor 3 53 Poly-Ala. G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity lung(1) 1 all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148) OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562) GCCCCGGCTTcgccgccgccgcc 0.591 NaN NaN NaN NaN NaN NaN 19 692 --- --- VGF 7425 broad.mit.edu 37 7 100807026 100807028 + In_Frame_Del DEL CCT CCT - TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chr7:100807026_100807028delCCT uc003uxx.3 - 2 1315_1317 c.1097_1099delAGG c.(1096-1101)GAGGCG>GCG p.E366del NM_003378 NP_003369 O15240 VGF_HUMAN VGF nerve growth factor inducible precursor 366 Asp/Glu-rich (acidic). response to cAMP extracellular space|transport vesicle growth factor activity 0 Lung NSC(181;0.168)|all_lung(186;0.215) tcctgctccgcctcctcctcctc 0.369 NaN NaN NaN NaN NaN NaN 2 4 --- --- KDM6A 7403 broad.mit.edu 37 X 44833924 44833924 + Frame_Shift_Del DEL C C - TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 C - C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx cc95719c-7fcc-4ed7-837e-1840c0a6bc27 c8dad5de-60a0-4dec-9529-5c70a6216491 g.chrX:44833924delC uc004dge.3 + 4 723 c.348delC c.(346-348)TACfs p.Y116fs KDM6A_uc010nhk.2_Frame_Shift_Del_p.Y116fs|KDM6A_uc011mkz.1_Frame_Shift_Del_p.Y116fs|KDM6A_uc011mla.1_Frame_Shift_Del_p.Y116fs|KDM6A_uc011mlb.1_Frame_Shift_Del_p.Y116fs|KDM6A_uc011mlc.1_5'UTR NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 116 TPR 1. histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.?(1) kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 TATCTGCATACCAGAGGTACT 0.348 NaN D|N|F|S renal|oesophageal SCC|MM NaN NaN NaN NaN NaN 23 21 --- ---