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 FMN2 56776 broad.mit.edu 37 1 240492719 240492719 + Missense_Mutation SNP G G T TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr1:240492719G>T ENST00000319653.9 + 10 4618 c.4388G>T c.(4387-4389)aGc>aTc p.S1463I FMN2_ENST00000545751.1_Missense_Mutation_p.S59I NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1463 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TTTTCAGAAAGCATTTGCTCA 0.408 5 80 --- --- --- --- ZNF638 27332 broad.mit.edu 37 2 71654016 71654016 + Missense_Mutation SNP G G T TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr2:71654016G>T ENST00000409544.1 + 24 5647 c.5017G>T c.(5017-5019)Gat>Tat p.D1673Y ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.D613Y|ZNF638_ENST00000264447.4_Missense_Mutation_p.D1673Y NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 1673 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 TGAAGAACAAGATCTCCTCAA 0.378 4 85 --- --- --- --- CNTN4 152330 broad.mit.edu 37 3 2944670 2944670 + Silent SNP C C T TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr3:2944670C>T ENST00000397461.1 + 11 1572 c.1188C>T c.(1186-1188)aaC>aaT p.N396N CNTN4_ENST00000427331.1_Silent_p.N396N|CNTN4_ENST00000397459.2_Silent_p.N68N|CNTN4_ENST00000448906.2_Silent_p.N68N|CNTN4_ENST00000358480.3_Silent_p.N177N|CNTN4_ENST00000418658.1_Silent_p.N396N|CNTN4_ENST00000475817.1_3'UTR NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 396 Ig-like C2-type 4. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TCTTTTCCAACGCAGAGCTTA 0.353 4 51 --- --- --- --- DNAJC2 27000 broad.mit.edu 37 7 102953049 102953049 + Silent SNP T T C TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr7:102953049T>C ENST00000379263.3 - 17 2083 c.1833A>G c.(1831-1833)gaA>gaG p.E611E PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Silent_p.E558E|PMPCB_ENST00000249269.4_3'UTR NM_014377.1 NP_055192.1 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 611 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1) 21 TCAGCACTTGTTCTTGAGCAG 0.328 6 91 --- --- --- --- TMEM71 137835 broad.mit.edu 37 8 133764058 133764058 + Missense_Mutation SNP C C T TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr8:133764058C>T ENST00000356838.3 - 4 429 c.287G>A c.(286-288)aGc>aAc p.S96N TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Missense_Mutation_p.S96N|TMEM71_ENST00000523829.1_Missense_Mutation_p.S96N NM_144649.2 NP_653250.2 Q6P5X7 TMM71_HUMAN transmembrane protein 71 96 integral to membrane p.S96T(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) ATACATAACGCTGGTCTGGGA 0.403 7 115 --- --- --- --- PIP5KL1 138429 broad.mit.edu 37 9 130688198 130688198 + Silent SNP G G A TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr9:130688198G>A ENST00000388747.4 - 8 755 c.711C>T c.(709-711)ccC>ccT p.P237P PIP5KL1_ENST00000490773.1_Intron|PIP5KL1_ENST00000300432.3_Silent_p.P34P NM_001135219.1 NP_001128691.1 Q5T9C9 PI5L1_HUMAN phosphatidylinositol-4-phosphate 5-kinase-like 1 237 PIPK. cytoplasm|membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1) 8 CCAGAACAAGGGGGCTGCCCT 0.582 3 52 --- --- --- --- OR4D5 219875 broad.mit.edu 37 11 123810795 123810795 + Missense_Mutation SNP G G A TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr11:123810795G>A ENST00000307033.2 + 1 546 c.472G>A c.(472-474)Gta>Ata p.V158I NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CCACTCCATAGTACAGATTGC 0.512 4 91 --- --- --- --- FBXO21 23014 broad.mit.edu 37 12 117624369 117624369 + Missense_Mutation SNP C C T TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr12:117624369C>T ENST00000427718.2 - 3 457 c.383G>A c.(382-384)tGt>tAt p.C128Y FBXO21_ENST00000549689.1_5'UTR|FBXO21_ENST00000330622.5_Missense_Mutation_p.C128Y NM_015002.2|NM_033624.2 NP_055817.1|NP_296373.1 O94952 FBX21_HUMAN F-box protein 21 128 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 29 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) GAAGCCATTACAAGGAACCTA 0.383 7 76 --- --- --- --- CABIN1 23523 broad.mit.edu 37 22 24530349 24530349 + Silent SNP C C G TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr22:24530349C>G ENST00000398319.2 + 29 5098 c.4713C>G c.(4711-4713)ctC>ctG p.L1571L CABIN1_ENST00000405822.2_Silent_p.L1492L|CABIN1_ENST00000263119.5_Silent_p.L1571L NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1571 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 CACAGGGGCTCTTCTGCGAGA 0.532 3 18 --- --- --- --- LRP5L 91355 broad.mit.edu 37 22 25753228 25753228 + Missense_Mutation SNP C C G TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr22:25753228C>G ENST00000444995.3 - 5 1132 c.432G>C c.(430-432)aaG>aaC p.K144N LRP5L_ENST00000402859.2_Missense_Mutation_p.K144N|LRP5L_ENST00000402785.2_Missense_Mutation_p.K144N A4QPB2 LRP5L_HUMAN low density lipoprotein receptor-related protein 5-like 144 central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2) 6 TCACCTCGATCTTGTCTGTCT 0.657 5 45 --- --- --- --- FAM83F 113828 broad.mit.edu 37 22 40415250 40415250 + Missense_Mutation SNP G G C TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr22:40415250G>C ENST00000333407.6 + 2 662 c.568G>C c.(568-570)Gtc>Ctc p.V190L FAM83F_ENST00000473717.1_Missense_Mutation_p.V22L NM_138435.2 NP_612444.2 Q8NEG4 FA83F_HUMAN family with sequence similarity 83, member F breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2) 14 TAAGCGCCGGGTCCCAGTGTA 0.532 3 83 --- --- --- --- SRP54 6729 broad.mit.edu 37 14 35480857 35480857 + Frame_Shift_Del DEL A A - TCGA-EJ-A8FU-01A-11D-A364-08 TCGA-EJ-A8FU-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 293f781c-c2c7-479b-b1a6-5f951a2c5e5a e77da017-5dc6-4e32-9568-755e4ee9b533 g.chr14:35480857delA ENST00000556994.1 + 9 1025 c.628delA c.(628-630)aatfs p.N210fs SRP54_ENST00000546080.1_Frame_Shift_Del_p.N161fs|SRP54_ENST00000216774.6_Frame_Shift_Del_p.N210fs|SRP54_ENST00000555557.1_Frame_Shift_Del_p.N146fs P61011 SRP54_HUMAN signal recognition particle 54kDa 210 G-domain. GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243) GBM - Glioblastoma multiforme(112;0.0396) TCAAGTTGCTAATGCTATAGT 0.274 9 174 --- --- --- ---