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 COIL 8161 broad.mit.edu 37 17 55016500 55016500 + Missense_Mutation SNP T T C TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr17:55016500T>C uc002iuu.3 - 6 1694 c.1663A>G c.(1663-1665)Aaa>Gaa p.K555E NM_004645 NP_004636 P38432 COIL_HUMAN Homo sapiens coilin (COIL), mRNA. 555 Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) ATCAACTCTTTCCAAAATACA 0.388000 6 141 0 0 1 0 0 MLIP 90523 broad.mit.edu 37 6 53989504 53989504 + Silent SNP A A G TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr6:53989504A>G uc011dxa.2 + 2 519 c.486A>G c.(484-486)ccA>ccG p.P162P MLIP_uc003pcf.2_Silent_p.P151P|MLIP_uc003pcg.4_Silent_p.P151P|MLIP_uc003pch.4_Silent_p.P89P|MLIP_uc011dwz.1_Silent_p.P110P NM_138569 NP_612636 Q5VWP3 MLIP_HUMAN Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA. 151 PML body|nuclear envelope protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 AAGGCCCCCCAGGGGGGATTG 0.537000 6 155 0 0 1 0 0 OR4X1 390113 broad.mit.edu 37 11 48285551 48285551 + Missense_Mutation SNP A A T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr11:48285551A>T uc010rht.2 + 0 139 c.139A>T c.(139-141)Atc>Ttc p.I47F NM_001004726 NP_001004726 Q8NH49 OR4X1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA. 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 TGTGGTGACCATCCTGGCCAG 0.493000 7 62 0 0 1 0 0 BAMBI 25805 broad.mit.edu 37 10 28970195 28970195 + Nonsense_Mutation SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr10:28970195C>T uc001iuj.1 + 1 488 c.85C>T c.(85-87)Cga>Tga p.R29* NM_012342 NP_036474 Q13145 BAMBI_HUMAN Homo sapiens BMP and activin membrane-bound inhibitor homolog (Xenopus laevis) (BAMBI), mRNA. 29 cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape cytoplasm|integral to membrane|plasma membrane frizzled binding|type II transforming growth factor beta receptor binding central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 17 AGGTGAAATTCGATGCTACTG 0.433000 3 83 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41554019 41554019 + Missense_Mutation SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr8:41554019C>T uc003xom.3 - 26 3227 c.2945G>A c.(2944-2946)cGg>cAg p.R982Q NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.R257Q|ANK1_uc003xoi.3_Missense_Mutation_p.R941Q|ANK1_uc003xoj.3_Missense_Mutation_p.R941Q|ANK1_uc003xok.3_Missense_Mutation_p.R941Q|ANK1_uc003xol.3_Missense_Mutation_p.R941Q NM_001142446 NP_001135918 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 9, mRNA. 941 ZU5. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TGCGCACGTCCGTGGCGGGAT 0.682000 4 67 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 6 102 0 0 1 0 0 FNIP2 57600 broad.mit.edu 37 4 159750278 159750278 + Silent SNP A A G TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr4:159750278A>G uc003iqe.4 + 2 465 c.282A>G c.(280-282)ggA>ggG p.G94G FNIP2_uc003iqd.2_Silent_p.G94G NM_020840 NP_065891 Q9P278 FNIP2_HUMAN Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA. 94 DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) GCTGCCAGGGAagcagcagtg 0.458000 3 25 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120628502 120628502 + Missense_Mutation SNP G G A TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr3:120628502G>A uc003eec.4 + 1 217 c.77G>A c.(76-78)aGt>aAt p.S26N STXBP5L_uc011bji.2_Missense_Mutation_p.S26N NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 26 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AGCAGTGGCAGTAACAGTGGT 0.478000 3 66 0 0 1 0 0 NHSL2 340527 broad.mit.edu 37 X 71360543 71360543 + Missense_Mutation SNP G G T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chrX:71360543G>T uc011mqa.2 + 5 3145 c.3145G>T c.(3145-3147)Ggc>Tgc p.G1049C NHSL2_uc004eak.1_Missense_Mutation_p.G683C|NHSL2_uc010nli.2_Missense_Mutation_p.G818C NM_001013627 NP_001013649 F5H593 F5H593_HUMAN Homo sapiens NHS-like 2 (NHSL2), mRNA. 1049 NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1) 28 Renal(35;0.156) TCCCGCCACCGGCGATGACCT 0.562000 3 72 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53668940 53668940 + Missense_Mutation SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr19:53668940C>T uc010eqm.1 - 3 903 c.803G>A c.(802-804)gGc>gAc p.G268D NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN Homo sapiens zinc finger protein 665 (ZNF665), mRNA. 203 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) AAAGGCTTTGCCACACTCATT 0.393000 5 248 0 0 1 0 0 HOXA13 3209 broad.mit.edu 37 7 27237982 27237982 + Silent SNP T T C rs35608915 byFrequency TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr7:27237982T>C uc003szb.1 - 1 1031 c.1002A>G c.(1000-1002)ttA>ttG p.L334L HOTTIP_uc022aau.1_5'Flank NM_000522 NP_000513 P31271 HXA13_HUMAN Homo sapiens homeobox A13 (HOXA13), mRNA. 334 skeletal system development nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 6 CAAGTTCTTTTAATTGCACCT 0.507000 T NUP98 AML OREG0003748 type=REGULATORY REGION|Gene=HOXA13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 5 214 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34180219 34180219 + Missense_Mutation SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr1:34180219C>T uc001bxm.1 - 20 3551 c.3374G>A c.(3373-3375)cGc>cAc p.R1125H CSMD2_uc001bxn.1_Missense_Mutation_p.R1085H NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1085 CUB 7. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GCTCCACAGGCGCCGTCTGCC 0.592000 20 341 0 0 1 0 0 TTC30B 150737 broad.mit.edu 37 2 178416303 178416303 + Missense_Mutation SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr2:178416303C>T uc002uln.3 - 0 1222 c.1189G>A c.(1189-1191)Gta>Ata p.V397I TTC30B_uc010zfc.1_Missense_Mutation_p.V169I NM_152517 NP_689730 Q8N4P2 TT30B_HUMAN Homo sapiens tetratricopeptide repeat domain 30B (TTC30B), mRNA. 397 cell projection organization cilium binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) GCTTCCTGTACTTGTATGGTA 0.448000 6 330 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111398002 111398002 + Silent SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr4:111398002C>T uc003iab.4 + 0 774 c.432C>T c.(430-432)ctC>ctT p.L144L NM_001977 NP_001968 Q07075 AMPE_HUMAN Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA. 144 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TCACCCGGCTCCCGGAGCTGA 0.622000 19 202 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13100361 13100361 + Missense_Mutation SNP T T G TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr18:13100361T>G uc010xac.2 + 37 6801 c.6721T>G c.(6721-6723)Ttg>Gtg p.L2241V CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.L1766V|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_Missense_Mutation_p.L663V|CEP192_uc002krx.3_Missense_Mutation_p.L245V|CEP192_uc002kry.3_Non-coding_Transcript NM_032142 NP_115518 B7ZMF0 B7ZMF0_HUMAN Homo sapiens centrosomal protein 192kDa (CEP192), mRNA. 1836 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TTTAACTCGTTTGACCTCCAA 0.363000 8 117 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41026051 41026051 + Missense_Mutation SNP G G A TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr19:41026051G>A uc002ony.3 + 15 3733 c.3647G>A c.(3646-3648)cGt>cAt p.R1216H SPTBN4_uc002onx.3_Missense_Mutation_p.R1216H|SPTBN4_uc002onz.3_Missense_Mutation_p.R1216H|SPTBN4_uc010egx.3_5'UTR NM_020971 NP_066022 Q9H254 SPTN4_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA. 1216 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport PML body|cytosol|nuclear matrix|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GTGGTGCTGCGTAACCAGGTG 0.672000 3 20 0 0 1 0 0 ELOVL5 60481 broad.mit.edu 37 6 53139895 53139895 + Silent SNP G G A TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr6:53139895G>A uc011dwx.2 - 5 941 c.570C>T c.(568-570)tgC>tgT p.C190C ELOVL5_uc003pbq.1_Silent_p.C163C|ELOVL5_uc003pbr.2_Silent_p.C163C|ELOVL5_uc003pbs.2_Silent_p.C163C NM_001242828 NP_001229757 Q9NYP7 ELOV5_HUMAN Homo sapiens ELOVL fatty acid elongase 5 (ELOVL5), transcript variant 2, mRNA. 163 YFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQL LQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTN FYIQTYNKKGASRR -> SVCADNHPDQLRGHLAVHIPSWL VVFPDWIHDFPDCSLHKLLHSDLQQERGLPKERPPEGPPEW VHGCCEWTHQQLFTPGKQCEAKEAAEGLKSKN (in Ref. 4; BAD93035). fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Lung NSC(77;0.116) TACAGTGGCCGCAGGGGACCC 0.517000 3 55 0 0 1 0 0 HLA-DRA 3122 broad.mit.edu 37 6 32411670 32411670 + Missense_Mutation SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr6:32411670C>T uc003obh.3 + 3 857 c.748C>T c.(748-750)Cgc>Tgc p.R250C HLA-DRA_uc003obi.3_Missense_Mutation_p.R225C NM_019111 NP_061984 P01903 DRA_HUMAN Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA. 250 T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to plasma membrane|late endosome membrane|lysosomal membrane MHC class II receptor activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 19 TGCAGCAGAACGCAGGGGGCC 0.532000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of 8 115 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62305292 62305292 + Silent SNP G G A TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr15:62305292G>A uc002agz.3 - 10 862 c.771C>T c.(769-771)gcC>gcT p.A257A VPS13C_uc002aha.3_Silent_p.A214A|VPS13C_uc002ahb.2_Silent_p.A257A|VPS13C_uc002ahc.2_Silent_p.A214A NM_020821 NP_065872 Q709C8 VP13C_HUMAN Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA. 257 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 CATTCCAGTAGGCGCTAAGAC 0.348000 9 100 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86250007 86250007 + Missense_Mutation SNP T T C TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 30093dfe-c178-4d68-b53d-fe766cf50cbd g.chr1:86250007T>C uc001dlj.3 - 48 4177 c.4102A>G c.(4102-4104)Aga>Gga p.R1368G COL24A1_uc001dli.3_Missense_Mutation_p.R504G|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.R668G|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript NM_152890 NP_690850 Q17RW2 COOA1_HUMAN Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA. 1368 Collagen-like 16. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) CGGTGACCTCTTTTACCTTGA 0.453000 3 117 0 0 1 0 0 COIL 8161 broad.mit.edu 37 17 55016500 55016500 + Missense_Mutation SNP T T C TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr17:55016500T>C uc002iuu.3 - 6 1694 c.1663A>G c.(1663-1665)Aaa>Gaa p.K555E NM_004645 NP_004636 P38432 COIL_HUMAN Homo sapiens coilin (COIL), mRNA. 555 Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) ATCAACTCTTTCCAAAATACA 0.388000 6 141 0 0 1 0 0 MLIP 90523 broad.mit.edu 37 6 53989504 53989504 + Silent SNP A A G TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr6:53989504A>G uc011dxa.2 + 2 519 c.486A>G c.(484-486)ccA>ccG p.P162P MLIP_uc003pcf.2_Silent_p.P151P|MLIP_uc003pcg.4_Silent_p.P151P|MLIP_uc003pch.4_Silent_p.P89P|MLIP_uc011dwz.1_Silent_p.P110P NM_138569 NP_612636 Q5VWP3 MLIP_HUMAN Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA. 151 PML body|nuclear envelope protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 AAGGCCCCCCAGGGGGGATTG 0.537000 6 155 0 0 1 0 0 OR4X1 390113 broad.mit.edu 37 11 48285551 48285551 + Missense_Mutation SNP A A T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr11:48285551A>T uc010rht.2 + 0 139 c.139A>T c.(139-141)Atc>Ttc p.I47F NM_001004726 NP_001004726 Q8NH49 OR4X1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA. 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 TGTGGTGACCATCCTGGCCAG 0.493000 7 62 0 0 1 0 0 BAMBI 25805 broad.mit.edu 37 10 28970195 28970195 + Nonsense_Mutation SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr10:28970195C>T uc001iuj.1 + 1 488 c.85C>T c.(85-87)Cga>Tga p.R29* NM_012342 NP_036474 Q13145 BAMBI_HUMAN Homo sapiens BMP and activin membrane-bound inhibitor homolog (Xenopus laevis) (BAMBI), mRNA. 29 cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape cytoplasm|integral to membrane|plasma membrane frizzled binding|type II transforming growth factor beta receptor binding central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 17 AGGTGAAATTCGATGCTACTG 0.433000 3 83 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41554019 41554019 + Missense_Mutation SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr8:41554019C>T uc003xom.3 - 26 3227 c.2945G>A c.(2944-2946)cGg>cAg p.R982Q NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.R257Q|ANK1_uc003xoi.3_Missense_Mutation_p.R941Q|ANK1_uc003xoj.3_Missense_Mutation_p.R941Q|ANK1_uc003xok.3_Missense_Mutation_p.R941Q|ANK1_uc003xol.3_Missense_Mutation_p.R941Q NM_001142446 NP_001135918 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 9, mRNA. 941 ZU5. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TGCGCACGTCCGTGGCGGGAT 0.682000 4 67 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 6 102 0 0 1 0 0 FNIP2 57600 broad.mit.edu 37 4 159750278 159750278 + Silent SNP A A G TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr4:159750278A>G uc003iqe.4 + 2 465 c.282A>G c.(280-282)ggA>ggG p.G94G FNIP2_uc003iqd.2_Silent_p.G94G NM_020840 NP_065891 Q9P278 FNIP2_HUMAN Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA. 94 DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) GCTGCCAGGGAagcagcagtg 0.458000 3 25 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120628502 120628502 + Missense_Mutation SNP G G A TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr3:120628502G>A uc003eec.4 + 1 217 c.77G>A c.(76-78)aGt>aAt p.S26N STXBP5L_uc011bji.2_Missense_Mutation_p.S26N NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 26 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AGCAGTGGCAGTAACAGTGGT 0.478000 3 66 0 0 1 0 0 NHSL2 340527 broad.mit.edu 37 X 71360543 71360543 + Missense_Mutation SNP G G T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chrX:71360543G>T uc011mqa.2 + 5 3145 c.3145G>T c.(3145-3147)Ggc>Tgc p.G1049C NHSL2_uc004eak.1_Missense_Mutation_p.G683C|NHSL2_uc010nli.2_Missense_Mutation_p.G818C NM_001013627 NP_001013649 F5H593 F5H593_HUMAN Homo sapiens NHS-like 2 (NHSL2), mRNA. 1049 NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1) 28 Renal(35;0.156) TCCCGCCACCGGCGATGACCT 0.562000 3 72 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53668940 53668940 + Missense_Mutation SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr19:53668940C>T uc010eqm.1 - 3 903 c.803G>A c.(802-804)gGc>gAc p.G268D NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN Homo sapiens zinc finger protein 665 (ZNF665), mRNA. 203 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) AAAGGCTTTGCCACACTCATT 0.393000 5 248 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34180219 34180219 + Missense_Mutation SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr1:34180219C>T uc001bxm.1 - 20 3551 c.3374G>A c.(3373-3375)cGc>cAc p.R1125H CSMD2_uc001bxn.1_Missense_Mutation_p.R1085H NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1085 CUB 7. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GCTCCACAGGCGCCGTCTGCC 0.592000 20 341 0 0 1 0 0 TTC30B 150737 broad.mit.edu 37 2 178416303 178416303 + Missense_Mutation SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr2:178416303C>T uc002uln.3 - 0 1222 c.1189G>A c.(1189-1191)Gta>Ata p.V397I TTC30B_uc010zfc.1_Missense_Mutation_p.V169I NM_152517 NP_689730 Q8N4P2 TT30B_HUMAN Homo sapiens tetratricopeptide repeat domain 30B (TTC30B), mRNA. 397 cell projection organization cilium binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) GCTTCCTGTACTTGTATGGTA 0.448000 6 330 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111398002 111398002 + Silent SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr4:111398002C>T uc003iab.4 + 0 774 c.432C>T c.(430-432)ctC>ctT p.L144L NM_001977 NP_001968 Q07075 AMPE_HUMAN Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA. 144 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TCACCCGGCTCCCGGAGCTGA 0.622000 19 202 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13100361 13100361 + Missense_Mutation SNP T T G TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr18:13100361T>G uc010xac.2 + 37 6801 c.6721T>G c.(6721-6723)Ttg>Gtg p.L2241V CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.L1766V|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_Missense_Mutation_p.L663V|CEP192_uc002krx.3_Missense_Mutation_p.L245V|CEP192_uc002kry.3_Non-coding_Transcript NM_032142 NP_115518 B7ZMF0 B7ZMF0_HUMAN Homo sapiens centrosomal protein 192kDa (CEP192), mRNA. 1836 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TTTAACTCGTTTGACCTCCAA 0.363000 8 117 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41026051 41026051 + Missense_Mutation SNP G G A TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr19:41026051G>A uc002ony.3 + 15 3733 c.3647G>A c.(3646-3648)cGt>cAt p.R1216H SPTBN4_uc002onx.3_Missense_Mutation_p.R1216H|SPTBN4_uc002onz.3_Missense_Mutation_p.R1216H|SPTBN4_uc010egx.3_5'UTR NM_020971 NP_066022 Q9H254 SPTN4_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA. 1216 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport PML body|cytosol|nuclear matrix|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GTGGTGCTGCGTAACCAGGTG 0.672000 3 20 0 0 1 0 0 ELOVL5 60481 broad.mit.edu 37 6 53139895 53139895 + Silent SNP G G A TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr6:53139895G>A uc011dwx.2 - 5 941 c.570C>T c.(568-570)tgC>tgT p.C190C ELOVL5_uc003pbq.1_Silent_p.C163C|ELOVL5_uc003pbr.2_Silent_p.C163C|ELOVL5_uc003pbs.2_Silent_p.C163C NM_001242828 NP_001229757 Q9NYP7 ELOV5_HUMAN Homo sapiens ELOVL fatty acid elongase 5 (ELOVL5), transcript variant 2, mRNA. 163 YFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQL LQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTN FYIQTYNKKGASRR -> SVCADNHPDQLRGHLAVHIPSWL VVFPDWIHDFPDCSLHKLLHSDLQQERGLPKERPPEGPPEW VHGCCEWTHQQLFTPGKQCEAKEAAEGLKSKN (in Ref. 4; BAD93035). fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Lung NSC(77;0.116) TACAGTGGCCGCAGGGGACCC 0.517000 3 55 0 0 1 0 0 HLA-DRA 3122 broad.mit.edu 37 6 32411670 32411670 + Missense_Mutation SNP C C T TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr6:32411670C>T uc003obh.3 + 3 857 c.748C>T c.(748-750)Cgc>Tgc p.R250C HLA-DRA_uc003obi.3_Missense_Mutation_p.R225C NM_019111 NP_061984 P01903 DRA_HUMAN Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA. 250 T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to plasma membrane|late endosome membrane|lysosomal membrane MHC class II receptor activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 19 TGCAGCAGAACGCAGGGGGCC 0.532000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of 8 115 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62305292 62305292 + Silent SNP G G A TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr15:62305292G>A uc002agz.3 - 10 862 c.771C>T c.(769-771)gcC>gcT p.A257A VPS13C_uc002aha.3_Silent_p.A214A|VPS13C_uc002ahb.2_Silent_p.A257A|VPS13C_uc002ahc.2_Silent_p.A214A NM_020821 NP_065872 Q709C8 VP13C_HUMAN Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA. 257 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 CATTCCAGTAGGCGCTAAGAC 0.348000 9 100 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86250007 86250007 + Missense_Mutation SNP T T C TCGA-BJ-A3PR-01A-11D-A21Z-08 TCGA-BJ-A3PR-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afaf8f71-43ae-46dc-914c-8a51fe781ca4 92a61365-29b3-4b2e-840c-e69a3c72b2c8 g.chr1:86250007T>C uc001dlj.3 - 48 4177 c.4102A>G c.(4102-4104)Aga>Gga p.R1368G COL24A1_uc001dli.3_Missense_Mutation_p.R504G|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.R668G|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript NM_152890 NP_690850 Q17RW2 COOA1_HUMAN Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA. 1368 Collagen-like 16. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) CGGTGACCTCTTTTACCTTGA 0.453000 3 117 0 0 1 0 0