Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ZNF791 163049 broad.mit.edu 37 19 12739914 12739914 + Missense_Mutation SNP A A G TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr19:12739914A>G uc002mua.2 + 3 1733 c.1571A>G c.(1570-1572)tAt>tGt p.Y524C ZNF791_uc010xml.1_Missense_Mutation_p.Y492C|ZNF791_uc010dyu.1_Missense_Mutation_p.Y415C|ZNF791_uc010xmm.1_Missense_Mutation_p.Y415C NM_153358 NP_699189 Q3KP31 ZN791_HUMAN Homo sapiens zinc finger protein 791 (ZNF791), mRNA. 524 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P523P(1) endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3) 19 GAGAAACCCTATAAATGTAAA 0.388000 9 99 0 0 1 0 0 PTPRJ 5795 broad.mit.edu 37 11 48146708 48146708 + Missense_Mutation SNP G G C TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr11:48146708G>C uc001ngp.4 + 5 1418 c.1063G>C c.(1063-1065)Gga>Cga p.G355R PTPRJ_uc001ngo.4_Missense_Mutation_p.G355R NM_002843 NP_002834 Q12913 PTPRJ_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA. 355 Fibronectin type-III 3. contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity p.E354*(1) breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 TGGCACAGAAGGACAGCCCCA 0.532000 14 79 0 0 1 0 0 C9orf174 100499483 broad.mit.edu 37 9 100092841 100092841 + Missense_Mutation SNP C C G TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr9:100092841C>G uc011lut.2 + 31 3621 c.2615C>G c.(2614-2616)tCt>tGt p.S872C C9orf174_uc004axe.2_Missense_Mutation_p.S872C|C9orf174_uc011lus.2_Missense_Mutation_p.S690C|C9orf174_uc004axg.2_Missense_Mutation_p.S733C|C9orf174_uc004axh.2_Non-coding_Transcript|C9orf174_uc010msm.1_Non-coding_Transcript|C9orf174_uc004axf.3_Missense_Mutation_p.S733C|C9orf174_uc011luv.1_Missense_Mutation_p.S730C NM_020893 NP_065944 Q9P1Z9 CI174_HUMAN Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA. 872 Glu-rich. integral to membrane breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1) 16 AAAGAAGGCTCTATTCAGGGA 0.463000 13 27 0 0 1 0 0 LBH 81606 broad.mit.edu 37 2 30457303 30457303 + Missense_Mutation SNP A A G TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr2:30457303A>G uc002rne.2 + 1 267 c.59A>G c.(58-60)gAg>gGg p.E20G NM_030915 NP_112177 Q53QV2 LBH_HUMAN Homo sapiens limb bud and heart development homolog (mouse) (LBH), mRNA. 20 multicellular organismal development|transcription, DNA-dependent cytoplasm|nucleolus endometrium(2)|large_intestine(1)|lung(2) 5 Acute lymphoblastic leukemia(172;0.155) AAGATGACTGAGGTGATGATG 0.537000 3 164 0 0 1 0 0 SREBF2 6721 broad.mit.edu 37 22 42262982 42262982 + Missense_Mutation SNP G G A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr22:42262982G>A uc003bbi.3 + 1 405 c.236G>A c.(235-237)aGc>aAc p.S79N bK250D10.C22.8_uc003bba.1_Intron NM_004599 NP_004590 Q12772 SRBP2_HUMAN Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA. 79 Gly/Pro/Ser-rich. cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 ggcaggggcagcagcagcGGA 0.602000 3 88 0 0 1 0 0 VTA1 51534 broad.mit.edu 37 6 142468447 142468447 + Missense_Mutation SNP C C A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr6:142468447C>A uc003qiw.3 + 0 38 c.23C>A c.(22-24)cCc>cAc p.P8H VTA1_uc011edu.2_5'UTR NM_016485 NP_057569 Q9NP79 VTA1_HUMAN Homo sapiens Vps20-associated 1 homolog (S. cerevisiae) (VTA1), mRNA. 8 Interaction with CHMP5.|Interaction with IST1. cellular membrane organization|endosome transport|protein transport cytosol|endosome membrane protein binding endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182) GCACCGCTGCCCCCGCTCCCC 0.612000 OREG0017699 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 88 0 0 1 0 0 MAPK8IP2 23542 broad.mit.edu 37 22 51044095 51044095 + Silent SNP G G A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr22:51044095G>A uc003bmx.3 + 7 2061 c.1944G>A c.(1942-1944)acG>acA p.T648T MAPK8IP2_uc003bmy.3_Silent_p.T621T|MAPK8IP2_uc011asc.2_Silent_p.T3T NM_012324 NP_036456 Q13387 JIP2_HUMAN Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA. 649 SH3. MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior cytoplasm|postsynaptic density MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) ACATGCGCACGGGGGAGCGCG 0.652000 3 58 0 0 1 0 0 TTC3 7267 broad.mit.edu 37 21 38536445 38536445 + Missense_Mutation SNP G G A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr21:38536445G>A uc002yvz.3 + 31 3368 c.3263G>A c.(3262-3264)aGt>aAt p.S1088N TTC3_uc011aee.1_Missense_Mutation_p.S778N|TTC3_uc002ywa.3_Missense_Mutation_p.S1088N|TTC3_uc002ywb.3_Missense_Mutation_p.S1088N|TTC3_uc010gnf.3_Missense_Mutation_p.S853N|TTC3_uc002ywc.3_Missense_Mutation_p.S778N|TTC3_uc002ywd.1_Missense_Mutation_p.S152N NM_001001894 NP_003307 P53804 TTC3_HUMAN Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA. 1088 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) GACCAACACAGTAACGAATAT 0.398000 3 93 0 0 1 0 0 TMEM38A 79041 broad.mit.edu 37 19 16799119 16799119 + Silent SNP C C T TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr19:16799119C>T uc002nes.3 + 5 928 c.837C>T c.(835-837)ccC>ccT p.P279P NM_024074 NP_076979 Q9H6F2 TM38A_HUMAN Homo sapiens transmembrane protein 38A (TMEM38A), mRNA. 279 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1) 15 CGGCCATGCCCGCCAAGTCCA 0.657000 25 75 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76751728 76751728 + Silent SNP G G A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr6:76751728G>A uc003pik.1 - 1 313 c.183C>T c.(181-183)ttC>ttT p.F61F NM_001563 NP_001554 Q17R60 IMPG1_HUMAN Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA. 61 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity p.F61F(2)|p.F61L(2) breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TTGCCAAATCGAATATTCGTC 0.368000 20 134 0 0 1 0 0 C12orf44 60673 broad.mit.edu 37 12 52470924 52470924 + Missense_Mutation SNP T T C TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr12:52470924T>C uc001rzu.4 + 3 1082 c.607T>C c.(607-609)Tca>Cca p.S203P C12orf44_uc009zmd.3_Missense_Mutation_p.S203P|bpl_41-16_uc009zme.2_5'Flank NM_021934 NP_068753 Q9BSB4 ATGA1_HUMAN Homo sapiens chromosome 12 open reading frame 44 (C12orf44), transcript variant 1, mRNA. 203 autophagic vacuole assembly pre-autophagosomal structure identical protein binding|protein complex binding endometrium(1)|lung(2)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(357;0.0978) CCTGGGCACCTCAGTCACCAC 0.577000 3 99 0 0 1 0 0 COL20A1 57642 broad.mit.edu 37 20 61951642 61951642 + Splice_Site SNP G G A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr20:61951642G>A uc011aau.2 + 25 3176 c.3076_splice c.e25-1 p.F1026_splice COL20A1_uc011aav.2_Splice_Site_p.F847_splice NM_020882 NP_065933 Q9P218 COKA1_HUMAN Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA. 1026 TSP N-terminal. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) CTGCGTTGCAGTTTCAGCTCC 0.701000 3 98 0 0 1 0 0 NLRC4 58484 broad.mit.edu 37 2 32475708 32475708 + Nonsense_Mutation SNP C C A rs144123569 by1000genomes TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr2:32475708C>A uc002roi.3 - 3 1486 c.1225G>T c.(1225-1227)Gaa>Taa p.E409* NLRC4_uc021vfq.1_Nonsense_Mutation_p.E409*|NLRC4_uc002roj.2_Nonsense_Mutation_p.E409*|NLRC4_uc010ezt.2_Intron NM_001199138 NP_001186067 Q9NPP4 NLRC4_HUMAN Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA. 409 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity p.E409K(2) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TCCTGCAGTTCGAAATCAAAC 0.473000 3 37 0 0 1 0 0 ZNF335 63925 broad.mit.edu 37 20 44581287 44581287 + Missense_Mutation SNP C C T TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr20:44581287C>T uc002xqw.3 - 18 2887 c.2764G>A c.(2764-2766)Ggc>Agc p.G922S ZNF335_uc002xqv.3_Missense_Mutation_p.G34S|ZNF335_uc010zxk.2_Missense_Mutation_p.G767S NM_022095 NP_071378 Q9H4Z2 ZN335_HUMAN Homo sapiens zinc finger protein 335 (ZNF335), mRNA. 922 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) TAGTGGGTGCCAGCTTCTTTT 0.587000 53 166 0 0 1 0 0 IL12RB2 3595 broad.mit.edu 37 1 67833673 67833673 + Missense_Mutation SNP G G A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr1:67833673G>A uc001ddu.3 + 9 2064 c.1424G>A c.(1423-1425)cGg>cAg p.R475Q IL12RB2_uc010oqi.2_Missense_Mutation_p.R475Q|IL12RB2_uc010oqj.2_Missense_Mutation_p.R475Q|IL12RB2_uc010oqk.2_Non-coding_Transcript|IL12RB2_uc010oql.2_Missense_Mutation_p.R475Q|IL12RB2_uc010oqm.2_Missense_Mutation_p.R475Q|IL12RB2_uc010oqn.2_Non-coding_Transcript NM_001559 NP_001550 Q99665 I12R2_HUMAN Homo sapiens interleukin 12 receptor, beta 2 (IL12RB2), mRNA. 475 Fibronectin type-III 4. positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 45 AACTGGCTACGGAGTCGACCC 0.507000 19 103 0 0 1 0 0 MAP7D2 256714 broad.mit.edu 37 X 20044031 20044031 + Silent SNP C C T TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chrX:20044031C>T uc010nfo.2 - 8 1164 c.1047G>A c.(1045-1047)acG>acA p.T349T MAP7D2_uc004czq.2_Silent_p.T193T|MAP7D2_uc011mji.2_Silent_p.T256T|MAP7D2_uc004czr.2_Silent_p.T308T|MAP7D2_uc011mjj.2_Silent_p.T263T NM_001168465 NP_001161937 Q96T17 MA7D2_HUMAN Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA. 308 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 AGGGAGGTTTCGTTGTCTTTG 0.493000 37 252 0 0 1 0 0 TMTC4 84899 broad.mit.edu 37 13 101278051 101278051 + Missense_Mutation SNP G G A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr13:101278051G>A uc001vot.3 - 13 1995 c.1682C>T c.(1681-1683)gCt>gTt p.A561V TMTC4_uc001vou.3_Missense_Mutation_p.A542V|TMTC4_uc010tja.2_Missense_Mutation_p.A431V|TMTC4_uc001vov.1_Missense_Mutation_p.A287V|TMTC4_uc001vow.1_Missense_Mutation_p.A325V NM_032813 NP_001073137 Q5T4D3 TMTC4_HUMAN Homo sapiens transmembrane and tetratricopeptide repeat containing 4 (TMTC4), transcript variant 1, mRNA. 542 integral to membrane binding p.A561S(1) breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TATTTGAACAGCCAAAGACAG 0.368000 4 50 0 0 1 0 0 MMP24 10893 broad.mit.edu 37 20 33839758 33839758 + Missense_Mutation SNP G G A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr20:33839758G>A uc002xbu.2 + 2 449 c.446G>A c.(445-447)cGt>cAt p.R149H EDEM2_uc010zuv.1_Intron NM_006690 NP_006681 Q9Y5R2 MMP24_HUMAN Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA. 149 Poly-Arg. proteolysis integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5) 14 BRCA - Breast invasive adenocarcinoma(18;0.00252) CACTTAAGCCGTAGGCGGAGA 0.547000 4 188 0 0 1 0 0 MOG 4340 broad.mit.edu 37 6 29627259 29627259 + Silent SNP G G A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr6:29627259G>A uc003nmy.2 + 1 481 c.252G>A c.(250-252)aaG>aaA p.K84K MOG_uc003qzk.2_Silent_p.K84K|MOG_uc010kle.2_Intron|MOG_uc010klf.2_Intron|MOG_uc003nna.3_Intron|MOG_uc011dlt.2_Silent_p.K14K|MOG_uc011dlv.2_Intron|MOG_uc011dlu.2_Intron|MOG_uc003nne.3_Silent_p.K84K|MOG_uc003nnf.3_Silent_p.K84K|MOG_uc003nng.3_Silent_p.K84K|MOG_uc003nni.3_Silent_p.K84K|MOG_uc003nnh.3_Silent_p.K84K|MOG_uc003nnj.3_Silent_p.K84K|MOG_uc003nnk.3_Silent_p.K84K NM_206809 NP_996532 Q16653 MOG_HUMAN Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA. 84 Ig-like V-type. cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 GAAATGGCAAGGACCAAGATG 0.547000 3 139 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76867737 76867737 + Missense_Mutation SNP A A G TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr11:76867737A>G uc001oyb.2 + 5 774 c.502A>G c.(502-504)Aca>Gca p.T168A MYO7A_uc010rsl.2_Missense_Mutation_p.T168A|MYO7A_uc010rsm.1_Missense_Mutation_p.T157A|MYO7A_uc001oyc.2_Missense_Mutation_p.T168A NM_000260 NP_000251 Q13402 MYO7A_HUMAN Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA. 168 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse ATP binding|actin binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GACGGAGAGCACAAAGCTGAT 0.617000 7 184 0 0 1 0 0 CENPT 80152 broad.mit.edu 37 16 67862707 67862707 + Silent SNP A A G TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr16:67862707A>G uc002eun.4 - 13 1869 c.1320T>C c.(1318-1320)caT>caC p.H440H CENPT_uc010vkc.2_Silent_p.H198H|CENPT_uc010vkd.1_Silent_p.H193H NM_025082 NP_079358 Q96BT3 CENPT_HUMAN Homo sapiens centromere protein T (CENPT), mRNA. 440 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding NS(1)|breast(2)|lung(6)|urinary_tract(1) 10 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) GCCTAGGGGGATGCCTGACCA 0.582000 3 138 0 0 1 0 0 EIF2B5 8893 broad.mit.edu 37 3 183856019 183856019 + Silent SNP C C T TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr3:183856019C>T uc003fmp.3 + 4 1114 c.750C>T c.(748-750)agC>agT p.S250S EIF2B5_uc003fmq.3_5'UTR NM_003907 NP_003898 Q13144 EI2BE_HUMAN Homo sapiens eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa (EIF2B5), mRNA. 250 RNA metabolic process|astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1) 27 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) GTCATATCAGCATCTGTTCTC 0.468000 9 96 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37414918 37414918 + Missense_Mutation SNP T T C TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr10:37414918T>C uc021ppc.1 + 0 134 c.35T>C c.(34-36)aTa>aCa p.I12T ANKRD30A_uc001iza.1_Missense_Mutation_p.I12T NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 68 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AACCTTAATATACAAGACGCC 0.592000 3 39 0 0 1 0 0 PRPF39 55015 broad.mit.edu 37 14 45579424 45579424 + Splice_Site SNP G G A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr14:45579424G>A uc001wvz.4 + 9 1473 c.1303_splice c.e9+1 p.G435_splice PRPF39_uc001wvy.4_Splice_Site_p.G314_splice|PRPF39_uc010and.3_Splice_Site_p.G225_splice|PRPF39_uc001wwa.1_Splice_Site_p.G39_splice|SNORD127_uc010ane.3_5'Flank NM_017922 NP_060392 Q86UA1 PRP39_HUMAN Homo sapiens PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae) (PRPF39), mRNA. 435 RNA splicing|mRNA processing nucleus binding breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1) 12 GAACAGCAGGGTAAGAGTGGA 0.418000 3 40 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64599082 64599082 + Missense_Mutation SNP G G A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr14:64599082G>A uc001xgl.3 + 76 14670 c.14440G>A c.(14440-14442)Gaa>Aaa p.E4814K SYNE2_uc001xgm.3_Missense_Mutation_p.E4814K|SYNE2_uc021ruh.1_Missense_Mutation_p.E4731K|SYNE2_uc010apy.3_Missense_Mutation_p.E1199K|SYNE2_uc010apz.1_Missense_Mutation_p.E706K NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 4814 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ATTTTGGGCAGAACAAGTAAC 0.383000 3 114 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2369769 2369769 + Missense_Mutation SNP G G A TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr16:2369769G>A uc002cpy.1 - 7 1398 c.686C>T c.(685-687)gCc>gTc p.A229V ABCA3_uc010bsk.1_Missense_Mutation_p.A229V|ABCA3_uc010bsl.1_Missense_Mutation_p.A229V NM_001089 NP_001080 Q99758 ABCA3_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA. 229 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) GCGTGTGGCGGCATCGGCATG 0.637000 3 144 0 0 1 0 0 ZNF426 79088 broad.mit.edu 37 19 9640216 9640216 + Missense_Mutation SNP T T C TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr19:9640216T>C uc002mlq.3 - 7 769 c.505A>G c.(505-507)Agt>Ggt p.S169G ZNF426_uc010dws.3_Missense_Mutation_p.S131G NM_024106 NP_077011 Q9BUY5 ZN426_HUMAN Homo sapiens zinc finger protein 426 (ZNF426), mRNA. 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 TTCCCTGTACTTTGAGTTCTC 0.428000 8 78 0 0 1 0 0 LCK 3932 broad.mit.edu 37 1 32739980 32739980 + Missense_Mutation SNP T T C TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr1:32739980T>C uc001buz.3 + 1 171 c.50T>C c.(49-51)aTc>aCc p.I17T LCK_uc001bux.3_Missense_Mutation_p.I17T|LCK_uc001buy.3_Missense_Mutation_p.I17T|LCK_uc010ohc.1_Missense_Mutation_p.I61T|LCK_uc001bva.3_Missense_Mutation_p.I17T NM_005356 NP_005347 P06239 LCK_HUMAN Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA. 17 Interactions with CD4 and CD8 (By similarity). T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) ATGGAAAACATCGATGTGTGT 0.577000 T TRB@ T-ALL 4 215 0 0 1 0 0 TM7SF2 7108 broad.mit.edu 37 11 64879505 64879506 + Frame_Shift_Del DEL CC CC - TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr11:64879505_64879506delCC uc001oct.3 + 0 165_166 c.18_19delCC c.(16-21)ggccccfs p.G6fs TM7SF2_uc010rny.2_5'UTR|TM7SF2_uc001ocu.3_Frame_Shift_Del_p.G6fs|TM7SF2_uc001ocv.3_5'UTR NM_003273 NP_003264 O76062 ERG24_HUMAN Homo sapiens transmembrane 7 superfamily member 2 (TM7SF2), mRNA. 6 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane delta14-sterol reductase activity lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CCACTCAGGGCCCCCGGGCCCC 0.639 6 12 --- --- --- --- SPTBN5 51332 broad.mit.edu 37 15 42159282 42159282 + Frame_Shift_Del DEL G G - TCGA-EL-A3T0-01A-22D-A22D-08 TCGA-EL-A3T0-11A-12D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54426b1a-e0d3-4d8e-9e81-2d8e6b153b22 93f3e9bc-7221-4442-af55-1004bdf61842 g.chr15:42159282delG uc001zos.3 - 35 6583 c.6250delC c.(6250-6252)cggfs p.R2084fs MIR4310_uc021sjo.1_5'Flank NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA. 2119 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) TCCCGCACCCGGGGGCGCCGG 0.731 2 4 --- --- --- ---