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 TMED8 283578 broad.mit.edu 37 14 77812725 77812725 + Missense_Mutation SNP C C A TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr14:77812725C>A uc001xto.1 - 2 294 c.294G>T c.(292-294)ttG>ttT p.L98F TMED8_uc001xtn.1_5'Flank NM_213601 NP_998766 Q6PL24 TMED8_HUMAN Homo sapiens transmembrane emp24 protein transport domain containing 8 (TMED8), mRNA. 98 transport integral to membrane breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4) 15 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) CTGCAGGCAGCAAATCCTGTT 0.537000 3 65 0 0 1 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39171422 39171422 + Missense_Mutation SNP C C T TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr9:39171422C>T uc004abi.3 - 7 1516 c.1277G>A c.(1276-1278)gGc>gAc p.G426D CNTNAP3_uc004abj.3_Missense_Mutation_p.G426D|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.G426D|CNTNAP3_uc011lqs.1_Missense_Mutation_p.G426D NM_033655 NP_387504 Q9BZ76 CNTP3_HUMAN Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA. 426 Laminin G-like 2. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TTTGAGCTTGCCATCCTTAAG 0.468000 4 145 0 0 1 0 0 HCRTR1 3061 broad.mit.edu 37 1 32092570 32092570 + Missense_Mutation SNP G G T TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr1:32092570G>T uc009vtx.2 + 8 1652 c.1267G>T c.(1267-1269)Gtg>Ttg p.V423L HCRTR1_uc001btc.4_Intron|HCRTR1_uc001btd.2_Missense_Mutation_p.V423L|HCRTR1_uc010ogl.2_Intron NM_001525 NP_001516 O43613 OX1R_HUMAN Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA. 423 feeding behavior|neuropeptide signaling pathway|synaptic transmission integral to plasma membrane breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 7 Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.053) CGTCACCACAGTGCTGCCCTG 0.612000 4 147 0 0 1 0 0 GTPBP4 23560 broad.mit.edu 37 10 1042091 1042091 + Silent SNP C C A TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr10:1042091C>A uc001ift.3 + 3 440 c.369C>A c.(367-369)ctC>ctA p.L123L GTPBP4_uc010qac.1_5'UTR|GTPBP4_uc010qad.2_Silent_p.L7L|GTPBP4_uc010qae.2_Silent_p.L76L NM_012341 NP_036473 Q9BZE4 NOG1_HUMAN Homo sapiens GTP binding protein 4 (GTPBP4), mRNA. 123 negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) GCGACTCTCTCTACCGCTGCA 0.428000 4 27 0 0 1 0 0 FGR 2268 broad.mit.edu 37 1 27949582 27949582 + Silent SNP C C T TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr1:27949582C>T uc001boj.3 - 1 446 c.300G>A c.(298-300)aaG>aaA p.K100K FGR_uc001bok.3_Silent_p.K100K|FGR_uc001bol.3_Silent_p.K100K|FGR_uc001bom.3_Silent_p.K100K NM_005248 NP_005239 P09769 FGR_HUMAN Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA. 100 SH3. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) ACTTCTCGCCCTTGGTGAAGG 0.552000 9 48 0 0 1 0 0 PFKFB3 5209 broad.mit.edu 37 10 6268161 6268161 + Missense_Mutation SNP A A G TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr10:6268161A>G uc010qaw.2 + 13 1453 c.1390A>G c.(1390-1392)Aag>Gag p.K464E PFKFB3_uc001ijd.3_Missense_Mutation_p.K430E|PFKFB3_uc009xii.3_Non-coding_Transcript|PFKFB3_uc001ije.3_Missense_Mutation_p.K450E|PFKFB3_uc001ijf.3_Missense_Mutation_p.K450E|PFKFB3_uc001ijg.3_Non-coding_Transcript|PFKFB3_uc009xij.3_Non-coding_Transcript|PFKFB3_uc009xik.3_Non-coding_Transcript|PFKFB3_uc009xil.3_Intron NM_001145443 NP_001138915 Q16875 F263_HUMAN Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 2, mRNA. 450 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding p.P464Q(1)|p.P464L(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1) 22 TTAGGATGCAAAGAAGGGACC 0.483000 4 154 0 0 1 0 0 LILRB3 11025 broad.mit.edu 37 19 54722660 54722660 + Missense_Mutation SNP C C T TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr19:54722660C>T uc010erh.1 - 9 1649 c.1525G>A c.(1525-1527)Gag>Aag p.E509K LILRB3_uc002qee.1_Missense_Mutation_p.E492K|LILRB3_uc002qef.1_Missense_Mutation_p.E492K|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Missense_Mutation_p.E492K|LILRB3_uc002qeh.1_Missense_Mutation_p.E492K|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Missense_Mutation_p.E492K|LILRB3_uc002qek.1_Missense_Mutation_p.E492K|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Missense_Mutation_p.E492K|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Missense_Mutation_p.E492K|LILRB3_uc002qep.1_Missense_Mutation_p.E492K|LILRB3_uc002qeq.1_Missense_Mutation_p.E492K NM_006864 NP_006855 O75022 LIRB3_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA. 492 cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCCTTGGGCTCTGTCTCCGCA 0.577000 4 113 0 0 1 0 0 TSPAN15 23555 broad.mit.edu 37 10 71243586 71243586 + Missense_Mutation SNP T T C rs140708891 byFrequency TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr10:71243586T>C uc001jpo.1 + 1 361 c.236T>C c.(235-237)aTt>aCt p.I79T NM_012339 NP_036471 O95858 TSN15_HUMAN Homo sapiens tetraspanin 15 (TSPAN15), mRNA. 79 integral to plasma membrane|membrane fraction breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1) 9 GTCTCCTTCATTGGTGTGCTG 0.587000 4 96 0 0 1 0 0 ZNF197 10168 broad.mit.edu 37 3 44670566 44670566 + Splice_Site SNP A A G TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr3:44670566A>G uc003cnm.3 + 2 126 c.-80_splice c.e2-1 ZNF197_uc003cnn.3_5'UTR|ZNF197_uc003cno.3_Splice_Site|ZNF197_uc003cnp.3_Splice_Site NM_006991 NP_008922 O14709 ZN197_HUMAN Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) GGTCTTGTAGATGATACTCTC 0.433000 4 93 0 0 1 0 0 RNF139 11236 broad.mit.edu 37 8 125499517 125499517 + Missense_Mutation SNP A A G TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr8:125499517A>G uc003yrc.3 + 1 1970 c.1627A>G c.(1627-1629)Ata>Gta p.I543V NM_007218 NP_009149 Q8WU17 RN139_HUMAN Homo sapiens ring finger protein 139 (RNF139), mRNA. 543 negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1) 20 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CTTACAAGAAATAAATGATGT 0.378000 31 56 0 0 1 0 0 SDAD1 55153 broad.mit.edu 37 4 76881302 76881302 + Missense_Mutation SNP T T C TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr4:76881302T>C uc003hje.4 - 16 1519 c.1400A>G c.(1399-1401)tAt>tGt p.Y467C SDAD1_uc003hjf.4_Missense_Mutation_p.Y370C|SDAD1_uc011cbr.2_Missense_Mutation_p.Y430C NM_018115 NP_060585 Q9NVU7 SDA1_HUMAN Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA. 467 protein transport|ribosomal large subunit biogenesis nucleolus protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TAATTCTCCATATTCTTGTAC 0.348000 6 67 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50952733 50952733 + Missense_Mutation SNP A A C TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr10:50952733A>C uc009xog.3 - 11 1810 c.1776T>G c.(1774-1776)atT>atG p.I592M OGDHL_uc001jie.3_Missense_Mutation_p.I565M|OGDHL_uc010qgt.2_Missense_Mutation_p.I508M|OGDHL_uc010qgu.2_Missense_Mutation_p.I356M|OGDHL_uc009xoh.2_Missense_Mutation_p.I356M NM_001143997 NP_001137469 Q9ULD0 OGDHL_HUMAN Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 565 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 TTATATGCAGAATCTTTTTAT 0.527000 5 109 0 0 1 0 0 NCAM2 4685 broad.mit.edu 37 21 22804492 22804492 + Silent SNP C C A TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr21:22804492C>A uc002yld.2 + 11 1794 c.1545C>A c.(1543-1545)tcC>tcA p.S515S NCAM2_uc011acb.2_Silent_p.S373S NM_004540 NP_004531 O15394 NCAM2_HUMAN Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA. 515 Fibronectin type-III 1. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) CCAAGGTTTCCTTCAACAAAC 0.453000 7 79 0 0 1 0 0 TCN2 6948 broad.mit.edu 37 22 31008997 31008997 + Missense_Mutation SNP A A G TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr22:31008997A>G uc003aip.2 + 2 644 c.395A>G c.(394-396)aAa>aGa p.K132R TCN2_uc003air.2_Intron NM_000355 NP_000346 P20062 TCO2_HUMAN Homo sapiens transcobalamin II (TCN2), transcript variant 1, mRNA. 132 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular space cobalamin binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1) 22 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TCACAGCTCAAATGGTTCCTG 0.582000 35 31 0 0 1 0 0 TRAF4 9618 broad.mit.edu 37 17 27074944 27074944 + Missense_Mutation SNP T T A TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr17:27074944T>A uc002hcs.3 + 2 387 c.279T>A c.(277-279)agT>agA p.S93R TRAF4_uc002hcq.1_Missense_Mutation_p.S93R NM_004295 NP_004286 Q9BUZ4 TRAF4_HUMAN Homo sapiens TNF receptor-associated factor 4 (TRAF4), mRNA. 93 apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction DNA binding|WW domain binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 Lung NSC(42;0.01) Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235) GCCGCTGGAGTGGGCCACTAC 0.612000 25 28 0 0 1 0 0 COL27A1 85301 broad.mit.edu 37 9 117071596 117071596 + Silent SNP G G A TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr9:117071596G>A uc011lxl.2 + 59 5274 c.5274G>A c.(5272-5274)gaG>gaA p.E1758E COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc011lxn.2_Silent_p.E73E NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA. 1758 Fibrillar collagen NC1. cell adhesion extracellular matrix structural constituent p.S1757S(1) central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 TAAGCTCCGAGGTGACCCAGC 0.617000 109 166 0 0 1 0 0 PPP3R2 5535 broad.mit.edu 37 9 104357184 104357184 + Missense_Mutation SNP T T A TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr9:104357184T>A uc004bbr.3 - 0 100 c.29A>T c.(28-30)tAc>tTc p.Y10F GRIN3A_uc004bbp.2_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Non-coding_Transcript NM_147180 NP_671709 Q96LZ3 CANB2_HUMAN Homo sapiens protein phosphatase 3, regulatory subunit B, beta (PPP3R2), mRNA. 7 calcium ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) CTCCGCCGGGTAACTGGCCTC 0.587000 42 68 0 0 1 0 0 TIGD4 201798 broad.mit.edu 37 4 153691793 153691793 + Missense_Mutation SNP C C T TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr4:153691793C>T uc003imy.3 - 1 1185 c.364G>A c.(364-366)Ggc>Agc p.G122S TIGD4_uc021xtf.1_Missense_Mutation_p.G122S NM_145720 NP_663772 Q8IY51 TIGD4_HUMAN Homo sapiens tigger transposable element derived 4 (TIGD4), mRNA. 122 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding|chromatin binding breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.093) TCATTATGGCCCAGTTTCTGG 0.403000 4 150 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142563827 142563827 + Silent SNP C C T TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr7:142563827C>T uc011kst.2 + 8 2002 c.1215C>T c.(1213-1215)gtC>gtT p.V405V EPHB6_uc011ksu.2_Silent_p.V405V|EPHB6_uc003wbs.3_Silent_p.V113V|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Silent_p.V113V|EPHB6_uc003wbv.3_5'Flank NM_004445 NP_004436 O15197 EPHB6_HUMAN Homo sapiens EPH receptor B6 (EPHB6), mRNA. 405 Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity p.G404S(1) NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) TCTTCAATGTCGTGTGCAAGG 0.637000 13 15 0 0 1 0 0 AGA 175 broad.mit.edu 37 4 178359917 178359917 + Silent SNP G G A TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr4:178359917G>A uc003iuu.2 - 3 617 c.489C>T c.(487-489)tgC>tgT p.C163C AGA_uc003iuw.3_Silent_p.C163C|AGA_uc003iuv.2_Non-coding_Transcript NM_000027 NP_000018 P20933 ASPG_HUMAN Homo sapiens aspartylglucosaminidase (AGA), transcript variant 1, mRNA. 163 C -> S (in AGU; Finnish. Most frequent mutation; >98% of Finnish AGU alleles). asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2) 16 all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245) all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163) AATTTGGCTGGCAATTCCGAG 0.393000 3 31 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef 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 35 53 0 0 1 0 0 C16orf72 29035 broad.mit.edu 37 16 9197107 9197107 + Missense_Mutation SNP G G A TCGA-DJ-A13U-01A-11D-A10S-08 TCGA-DJ-A13U-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fa6f592-79f4-4ab1-88d3-ad6de13a2802 3e5c2d94-bbd8-42ba-ad64-36af735be8ef g.chr16:9197107G>A uc002czm.3 + 2 939 c.574G>A c.(574-576)Gct>Act p.A192T NM_014117 NP_054836 Q14CZ0 CP072_HUMAN Homo sapiens chromosome 16 open reading frame 72 (C16orf72), mRNA. 192 endometrium(4)|large_intestine(2)|lung(2) 8 GGAAGCCATAGCTCTGCATGG 0.463000 5 53 0 0 1 0 0