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 TMEM132B 114795 broad.mit.edu 37 12 125834274 125834274 + Missense_Mutation SNP A A G TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr12:125834274A>G uc001uhe.1 + 1 337 c.329A>G c.(328-330)aAc>aGc p.N110S TMEM132B_uc021rgl.1_5'UTR NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 110 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GCCTTTGGAAACATGGACAAA 0.468000 4 114 0 0 1 0 0 SLC44A3 126969 broad.mit.edu 37 1 95290099 95290099 + Silent SNP C C T TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr1:95290099C>T uc001dqv.4 + 2 293 c.186C>T c.(184-186)ctC>ctT p.L62L SLC44A3_uc001dqx.4_Silent_p.L62L|SLC44A3_uc010otq.2_Silent_p.L26L|SLC44A3_uc010otr.2_Silent_p.L26L|SLC44A3_uc001dqw.4_Silent_p.L14L|SLC44A3_uc010ots.2_Silent_p.L14L|SLC44A3_uc009wds.3_5'UTR|SLC44A3_uc010ott.2_Silent_p.L14L|SLC44A3_uc010otu.1_5'Flank NM_001114106 NP_689582 Q8N4M1 CTL3_HUMAN Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA. 62 integral to membrane|plasma membrane choline transmembrane transporter activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1) 23 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) GAAGACTCCTCTTTGGCTATG 0.552000 6 120 0 0 1 0 0 XPOT 11260 broad.mit.edu 37 12 64810532 64810532 + Nonsense_Mutation SNP C C A TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr12:64810532C>A uc001ssb.3 + 3 704 c.198C>A c.(196-198)taC>taA p.Y66* XPOT_uc009zqm.2_5'UTR NM_007235 NP_009166 O43592 XPOT_HUMAN Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA. 66 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) AAGTTAAATACAAGTAAGGCT 0.318000 3 77 0 0 1 0 0 TULP2 7288 broad.mit.edu 37 19 49385438 49385438 + Missense_Mutation SNP C C T TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr19:49385438C>T uc002pkz.2 - 11 1449 c.1298G>A c.(1297-1299)cGt>cAt p.R433H NM_003323 NP_003314 O00295 TULP2_HUMAN Homo sapiens tubby like protein 2 (TULP2), mRNA. 433 visual perception cytoplasm|extracellular region p.R433C(1) NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 22 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) ACGTTGGTAACGACTCAGTAG 0.502000 8 24 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77476902 77476902 + Missense_Mutation SNP G G T TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr4:77476902G>T uc011cbx.2 + 1 1262 c.309G>T c.(307-309)agG>agT p.R103S NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN Homo sapiens shroom family member 3 (SHROOM3), mRNA. 103 PDZ. apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) AGACCCTCAGGCTGGTAGTGC 0.592000 3 52 0 0 1 0 0 MKLN1 4289 broad.mit.edu 37 7 131012679 131012679 + Silent SNP C C T rs142689824 by1000genomes TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr7:131012679C>T uc011kpm.2 + 0 85 c.21C>T c.(19-21)gtC>gtT p.V7V MKLN1_uc011kpl.2_Intron|MKLN1_uc010lmh.2_Silent_p.V7V|MKLN1_uc003vqs.3_5'UTR|AK054623_uc003vqr.1_5'Flank NM_013255 NP_037387 Q9UL63 MKLN1_HUMAN Homo sapiens muskelin 1, intracellular mediator containing kelch motifs (MKLN1), transcript variant 2, mRNA. 7 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 Melanoma(18;0.162) GCGGAGCTGTCGCTGCGGCGC 0.677000 7 64 0 0 1 0 0 STX17 55014 broad.mit.edu 37 9 102713485 102713485 + Silent SNP A A G TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr9:102713485A>G uc004bal.4 + 3 469 c.333A>G c.(331-333)gaA>gaG p.E111E STX17_uc004bak.3_Silent_p.E111E|STX17_uc010msx.3_Non-coding_Transcript|STX17_uc011lvd.2_Non-coding_Transcript NM_017919 NP_060389 P56962 STX17_HUMAN Homo sapiens syntaxin 17 (STX17), mRNA. 111 intracellular protein transport|vesicle-mediated transport endoplasmic reticulum|integral to membrane|nucleolus SNAP receptor activity endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) TCCATTTGGAATCTGTAGAAG 0.393000 11 40 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68274320 68274320 + Silent SNP G G A TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr14:68274320G>A uc001xka.2 - 4 820 c.681C>T c.(679-681)tgC>tgT p.C227C ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Silent_p.C227C|ZFYVE26_uc010tta.2_Silent_p.C227C NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA. 227 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GTTCTGCGGGGCAACGCAGAG 0.622000 3 53 0 0 1 0 0 SLC5A6 8884 broad.mit.edu 37 2 27426733 27426733 + Silent SNP G G A rs59827696 TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr2:27426733G>A uc002rjd.3 - 9 1503 c.1008C>T c.(1006-1008)ttC>ttT p.F336F SLC5A6_uc010eyv.1_Silent_p.F336F NM_021095 NP_066918 Q9Y289 SC5A6_HUMAN Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA. 336 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) AGTACAGGACGAACTGCAAGC 0.592000 3 27 0 0 1 0 0 MAB21L1 4081 broad.mit.edu 37 13 36050055 36050055 + Missense_Mutation SNP A A T TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr13:36050055A>T uc001uvc.3 - 1 803 c.221T>A c.(220-222)tTt>tAt p.F74Y NBEA_uc021ric.1_Intron|NBEA_uc021rid.1_Intron|NBEA_uc010abi.3_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.2_5'Flank|NBEA_uc010teg.1_5'Flank NM_005584 NP_005575 Q13394 MB211_HUMAN Homo sapiens mab-21-like 1 (C. elegans) (MAB21L1), mRNA. 74 anatomical structure morphogenesis nucleus p.E73K(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 20 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) CACCACTTCAAATTCGGTGGG 0.572000 4 132 0 0 1 0 0 NEDD4 4734 broad.mit.edu 37 15 56207613 56207613 + Missense_Mutation SNP T T C TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr15:56207613T>C uc002adj.3 - 0 1717 c.1417A>G c.(1417-1419)Aag>Gag p.K473E NEDD4_uc002adl.3_Intron|NEDD4_uc002adi.3_Missense_Mutation_p.K473E|NEDD4_uc010ugj.2_Missense_Mutation_p.K473E|NEDD4_uc010bfm.3_Missense_Mutation_p.K473E|NEDD4_uc002adk.3_Non-coding_Transcript NM_198400 NP_006145 P46934 NEDD4_HUMAN Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA. 473 development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex RNA polymerase binding|beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) CAATTGTGCTTAAGGCTGGAT 0.378000 5 89 0 0 1 0 0 DHX38 9785 broad.mit.edu 37 16 72137670 72137670 + Missense_Mutation SNP G G A TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr16:72137670G>A uc002fcb.3 + 12 2162 c.1807G>A c.(1807-1809)Gga>Aga p.G603R DHX38_uc010vmp.2_Intron NM_014003 NP_054722 Q92620 PRP16_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA. 603 Helicase ATP-binding. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.G603E(1) endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) AGAGATGGGGGGAAACCTTGG 0.542000 3 54 0 0 1 0 0 WNT4 54361 broad.mit.edu 37 1 22447975 22447975 + Silent SNP G G A TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr1:22447975G>A uc001bfs.4 - 2 512 c.408C>T c.(406-408)tgC>tgT p.C136C WNT4_uc010odt.2_Silent_p.C73C NM_030761 NP_110388 P56705 WNT4_HUMAN Homo sapiens wingless-type MMTV integration site family, member 4 (WNT4), mRNA. 136 Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation Golgi apparatus|cell surface|extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 8 Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) TGTCACAGCCGCACTTCTCCA 0.672000 4 121 0 0 1 0 0 TCP1 6950 broad.mit.edu 37 6 160205735 160205735 + Silent SNP G G A TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr6:160205735G>A uc003qsr.3 - 5 868 c.633C>T c.(631-633)atC>atT p.I211I TCP1_uc003qss.3_Silent_p.I56I NM_030752 NP_001008897 P17987 TCPA_HUMAN Homo sapiens t-complex 1 (TCP1), transcript variant 1, mRNA. 211 'de novo' posttranslational protein folding|tubulin complex assembly Golgi apparatus|cell junction ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(2) 10 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) CATAGCCACTGATGAGCATAC 0.413000 36 86 0 0 1 0 0 LOC100128881 100128881 broad.mit.edu 37 16 89783046 89783046 + Splice_Site SNP G G A TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr16:89783046G>A uc002foo.1 + 1 110 c.-107_splice c.e1+1 C16orf7_uc002fol.1_Intron|C16orf7_uc002fom.1_Intron|LOC100128881_uc002fon.1_Non-coding_Transcript Homo sapiens uncharacterized LOC100128881 (LOC100128881), non-coding RNA. CAAGCCATGGGTAACCAGGGG 0.637000 4 133 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2832078 2832078 + Missense_Mutation SNP C C T TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr8:2832078C>T uc022aqr.1 - 55 9025 c.8635G>A c.(8635-8637)Gcc>Acc p.A2879T CSMD1_uc011kwj.2_Missense_Mutation_p.A2209T|CSMD1_uc010lrg.3_Missense_Mutation_p.A890T NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 2880 Sushi 21. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGCACGACGGCGCCATAGGTA 0.557000 6 22 0 0 1 0 0 KDM5A 5927 broad.mit.edu 37 12 417066 417066 + Missense_Mutation SNP T T G TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr12:417066T>G uc001qif.1 - 22 3847 c.3484A>C c.(3484-3486)Aaa>Caa p.K1162Q NM_001042603 NP_001036068 P29375 KDM5A_HUMAN Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA. 1162 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 ATGCAAAATTTTACTTCTTCT 0.448000 T NUP98 AML 28 95 0 0 1 0 0 LRP2BP 55805 broad.mit.edu 37 4 186291863 186291863 + Silent SNP G G A TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr4:186291863G>A uc003ixj.2 - 6 1721 c.909C>T c.(907-909)caC>caT p.H303H LRP2BP_uc003ixk.2_Silent_p.H277H NM_018409 NP_060879 Q9P2M1 LR2BP_HUMAN Homo sapiens LRP2 binding protein (LRP2BP), mRNA. 303 cytoplasm protein binding breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2) 15 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161) GACACCTTGCGTGGTAGAAGG 0.478000 5 98 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57189657 57189657 + Missense_Mutation SNP G G A TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr4:57189657G>A uc003hbk.2 + 8 3693 c.3302G>A c.(3301-3303)cGg>cAg p.R1101Q KIAA1211_uc010iha.2_Missense_Mutation_p.R1094Q NM_020722 NP_065773 Q6ZU35 K1211_HUMAN Homo sapiens KIAA1211 (KIAA1211), mRNA. 1101 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) AAGGGGTTTCGGGAGCAGCAG 0.522000 3 27 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20004644 20004644 + Missense_Mutation SNP C C A TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr13:20004644C>A uc001umd.3 - 17 1477 c.1266G>T c.(1264-1266)aaG>aaT p.K422N TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.K311N|TPTE2_uc001ume.3_Missense_Mutation_p.K345N|TPTE2_uc009zzm.3_Missense_Mutation_p.K93N|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Missense_Mutation_p.K93N NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA. 422 C2 tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) AAAAGACAACCTTTTTCTCCA 0.328000 4 21 0 0 1 0 0 LECT2 3950 broad.mit.edu 37 5 135288629 135288629 + Missense_Mutation SNP C C T TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr5:135288629C>T uc003lbe.1 - 1 275 c.74G>A c.(73-75)tGt>tAt p.C25Y NM_002302 NP_002293 O14960 LECT2_HUMAN Homo sapiens leukocyte cell-derived chemotaxin 2 (LECT2), mRNA. 25 chemotaxis|skeletal system development cytoplasm|extracellular space p.C25Y(2) large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTTGCCAGCACATATATTAGC 0.517000 8 181 0 0 1 0 0 NDUFV3 4731 broad.mit.edu 37 21 44329112 44329112 + Missense_Mutation SNP G G A TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr21:44329112G>A uc002zcm.3 + 3 1469 c.1403G>A c.(1402-1404)cGg>cAg p.R468Q NDUFV3_uc002zcn.3_Missense_Mutation_p.R103Q NM_021075 NP_066553 P56181 NDUV3_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa (NDUFV3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 103 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I|nucleus NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 10 STAD - Stomach adenocarcinoma(101;0.0606) NADH(DB00157) TCCTCAGGCCGGGAGTCACCT 0.512000 8 173 0 0 1 0 0 FAM82A2 55177 broad.mit.edu 37 15 41046872 41046872 + Missense_Mutation SNP C C A TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr15:41046872C>A uc001zmo.1 - 1 254 c.110G>T c.(109-111)cGg>cTg p.R37L FAM82A2_uc001zmp.1_Missense_Mutation_p.R37L|FAM82A2_uc001zmq.1_Missense_Mutation_p.R37L NM_018145 NP_060615 Q96TC7 RMD3_HUMAN Homo sapiens family with sequence similarity 82, member A2 (FAM82A2), mRNA. 37 apoptosis|cell differentiation integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 11 ACGCTGGGTCCGTTTCCATCG 0.662000 3 64 0 0 1 0 0 EML2 24139 broad.mit.edu 37 19 46124495 46124495 + Missense_Mutation SNP G G T TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr19:46124495G>T uc010ekj.3 - 9 1033 c.992C>A c.(991-993)cCg>cAg p.P331Q EML2_uc002pcn.3_Silent_p.S364S|EML2_uc002pcp.3_Silent_p.S248S|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Silent_p.S511S|EML2_uc010xxm.2_Silent_p.S565S|EML2_uc010xxn.1_Non-coding_Transcript|EML2_uc010xxo.2_Silent_p.S364S O95834 EMAL2_HUMAN Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 2, mRNA. 0 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1) 31 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) CTGTGTGCACGGAGCCCTGCA 0.642000 3 59 0 0 1 0 0 NHLRC2 374354 broad.mit.edu 37 10 115614727 115614727 + Frame_Shift_Del DEL G G - TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr10:115614727delG uc001lax.2 + 0 337 c.96delG c.(94-96)cagfs p.Q32fs DCLRE1A_uc001law.2_5'Flank NM_198514 NP_940916 Q8NBF2 NHLC2_HUMAN Homo sapiens NHL repeat containing 2 (NHLRC2), mRNA. 32 cell redox homeostasis breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 15 Epithelial(162;0.017)|all cancers(201;0.0187) TTACCCAGCAGGAGAAGGACA 0.672 2 4 --- --- --- --- DNAH10 196385 broad.mit.edu 37 12 124356031 124356031 + Frame_Shift_Del DEL C C - TCGA-EM-A3FL-01A-11D-A21A-08 TCGA-EM-A3FL-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1bbb522d-e224-4b3f-9e10-3a47d06b2b05 edbd0ee1-d300-4fbc-a490-29b3648fd480 g.chr12:124356031delC uc001uft.4 + 43 7338 c.7313delC c.(7312-7314)accfs p.T2438fs NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 2438 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ACTCGGACTACCTGGATATTG 0.433 2 4 --- --- --- ---