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 FRG1B 0 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5 g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 9 143 0 0 1 0 0 C16orf98 100652740 broad.mit.edu 37 16 31214039 31214039 + Missense_Mutation SNP C C T TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5 g.chr16:31214039C>T ENST00000561916.2 + 2 361 c.265C>T c.(265-267)Cgc>Tgc p.R89C PYCARD_ENST00000350605.4_5'UTR|PYCARD_ENST00000247470.9_5'UTR chromosome 16 open reading frame 98 CCGCTGCCGCCGCTCACCCCG 0.721000 3 23 0 0 1 0 0 TP73-AS1 0 broad.mit.edu 37 1 3662614 3662614 + RNA SNP G G A TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5 g.chr1:3662614G>A ENST00000452079.1 - 0 1272 TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000423764.1_RNA NR_033711.1 AGAGACGTGTGGCCCACAGCG 0.652000 9 97 0 0 1 0 0 NBEAP1 0 broad.mit.edu 37 15 20876518 20876518 + RNA SNP C C T TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5 g.chr15:20876518C>T ENST00000556948.1 - 0 82 CAAAGGTACTCCATGAGATAA 0.338000 12 61 0 0 1 0 0 RPL36AL 6166 broad.mit.edu 37 14 50085726 50085726 + Missense_Mutation SNP A A C TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5 g.chr14:50085726A>C ENST00000298289.6 - 2 256 c.97T>G c.(97-99)Ttg>Gtg p.L33V NM_001001.4 NP_000992.1 Q969Q0 RL36L_HUMAN ribosomal protein L36a-like 33 translation ribosome structural constituent of ribosome all_epithelial(31;0.0021)|Breast(41;0.0124) TGGGCATACAAAGAATCCTTG 0.473000 38 85 0 0 1 0 0 TGM3 7053 broad.mit.edu 37 20 2290333 2290333 + Missense_Mutation SNP C C A rs214803 byFrequency TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5 g.chr20:2290333C>A ENST00000381458.5 + 2 101 c.38C>A c.(37-39)aCg>aAg p.T13K NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 13 T -> K (in dbSNP:rs214803). cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity p.T13M(1) breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) AACTGGCAGACGGCCTTCAAC 0.522000 6 117 0.00116845 0.00126192 1 1 0 KIF1A 547 broad.mit.edu 37 2 241710459 241710459 + Missense_Mutation SNP C C T TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5 g.chr2:241710459C>T ENST00000498729.2 - 15 1516 c.1270G>A c.(1270-1272)Gcc>Acc p.A424T KIF1A_ENST00000320389.7_Missense_Mutation_p.A415T NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 415 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GACACGGAGGCCGCGCGGCTG 0.647000 6 66 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292819 102292819 + RNA SNP C C T TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5 g.chr15:102292819C>T ENST00000561463.1 + 0 865 CGCGTGGGAACGAGAAGACAC 0.592000 3 31 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43430827 43430827 + RNA SNP G G A TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5 g.chr19:43430827G>A ENST00000446844.3 - 0 840 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) TTCTCCCTGGGGTTTAAGTTA 0.488000 13 275 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 94841744 94841744 + Missense_Mutation SNP A A G TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5 g.chr15:94841744A>G ENST00000357742.4 + 1 250 c.250A>G c.(250-252)Act>Gct p.T84A MCTP2_ENST00000543482.1_Missense_Mutation_p.T84A|MCTP2_ENST00000451018.3_Missense_Mutation_p.T84A|MCTP2_ENST00000331706.4_5'UTR NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 84 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) CAGTCTGTCCACTGCAGGGAT 0.582000 8 98 0 0 1 0 0 PLGLA 0 broad.mit.edu 37 2 107007467 107007467 + RNA SNP G G A rs7575679 by1000genomes TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5 g.chr2:107007467G>A ENST00000484422.1 + 0 316 ACTTCTCCCCGCAGACCTAGG 0.468000 4 29 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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 21 38 0 0 1 0 0 C16orf98 100652740 broad.mit.edu 37 16 31214039 31214039 + Missense_Mutation SNP C C T TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 73a63ebc-f5e7-4f82-9767-572a4d623cad g.chr16:31214039C>T ENST00000561916.2 + 2 361 c.265C>T c.(265-267)Cgc>Tgc p.R89C PYCARD_ENST00000350605.4_5'UTR|PYCARD_ENST00000247470.9_5'UTR chromosome 16 open reading frame 98 CCGCTGCCGCCGCTCACCCCG 0.721000 3 23 0 0 1 0 0 DHX9 1660 broad.mit.edu 37 1 182812436 182812436 + Missense_Mutation SNP T T G TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 73a63ebc-f5e7-4f82-9767-572a4d623cad g.chr1:182812436T>G ENST00000367549.3 + 3 229 c.119T>G c.(118-120)gTg>gGg p.V40G NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 40 DRBM 1.|Interaction with CREBBP. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding p.V40G(8) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 AAGGTTCAGGTGGAAGGTTAT 0.333000 7 27 0 0 1 0 0 HERC2P3 0 broad.mit.edu 37 15 20588571 20588571 + RNA SNP T T G rs113432051 by1000genomes TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 73a63ebc-f5e7-4f82-9767-572a4d623cad g.chr15:20588571T>G ENST00000428453.1 - 0 4179 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 AGAAGCCCAGTAGGCATCCAC 0.448000 6 79 0 0 1 0 0 RPL36AL 6166 broad.mit.edu 37 14 50085726 50085726 + Missense_Mutation SNP A A C TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 73a63ebc-f5e7-4f82-9767-572a4d623cad g.chr14:50085726A>C ENST00000298289.6 - 2 256 c.97T>G c.(97-99)Ttg>Gtg p.L33V NM_001001.4 NP_000992.1 Q969Q0 RL36L_HUMAN ribosomal protein L36a-like 33 translation ribosome structural constituent of ribosome all_epithelial(31;0.0021)|Breast(41;0.0124) TGGGCATACAAAGAATCCTTG 0.473000 38 85 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241710459 241710459 + Missense_Mutation SNP C C T TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 73a63ebc-f5e7-4f82-9767-572a4d623cad g.chr2:241710459C>T ENST00000498729.2 - 15 1516 c.1270G>A c.(1270-1272)Gcc>Acc p.A424T KIF1A_ENST00000320389.7_Missense_Mutation_p.A415T NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 415 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GACACGGAGGCCGCGCGGCTG 0.647000 6 66 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292819 102292819 + RNA SNP C C T TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 73a63ebc-f5e7-4f82-9767-572a4d623cad g.chr15:102292819C>T ENST00000561463.1 + 0 865 CGCGTGGGAACGAGAAGACAC 0.592000 3 31 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43430827 43430827 + RNA SNP G G A TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 73a63ebc-f5e7-4f82-9767-572a4d623cad g.chr19:43430827G>A ENST00000446844.3 - 0 840 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) TTCTCCCTGGGGTTTAAGTTA 0.488000 13 275 0 0 1 0 0 TP73-AS1 0 broad.mit.edu 37 1 3662614 3662614 + RNA SNP G G A TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 73a63ebc-f5e7-4f82-9767-572a4d623cad g.chr1:3662614G>A ENST00000452079.1 - 0 1272 TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000423764.1_RNA NR_033711.1 AGAGACGTGTGGCCCACAGCG 0.652000 9 97 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 94841744 94841744 + Missense_Mutation SNP A A G TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 73a63ebc-f5e7-4f82-9767-572a4d623cad g.chr15:94841744A>G ENST00000357742.4 + 1 250 c.250A>G c.(250-252)Act>Gct p.T84A MCTP2_ENST00000543482.1_Missense_Mutation_p.T84A|MCTP2_ENST00000451018.3_Missense_Mutation_p.T84A|MCTP2_ENST00000331706.4_5'UTR NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 84 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) CAGTCTGTCCACTGCAGGGAT 0.582000 8 98 0 0 1 0 0 PLGLA 0 broad.mit.edu 37 2 107007467 107007467 + RNA SNP G G A rs7575679 by1000genomes TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 73a63ebc-f5e7-4f82-9767-572a4d623cad g.chr2:107007467G>A ENST00000484422.1 + 0 316 ACTTCTCCCCGCAGACCTAGG 0.468000 4 29 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 73a63ebc-f5e7-4f82-9767-572a4d623cad g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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 21 38 0 0 1 0 0 COMT 1312 broad.mit.edu 37 22 19951897 19951897 + Missense_Mutation SNP G G C rs4646315 byFrequency TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 73a63ebc-f5e7-4f82-9767-572a4d623cad g.chr22:19951897G>C ENST00000403184.1 + 5 946 c.690G>C c.(688-690)aaG>aaC p.K230N COMT_ENST00000361682.6_Intron|COMT_ENST00000407537.1_Intron|COMT_ENST00000406520.3_Intron|COMT_ENST00000403710.1_Intron|COMT_ENST00000449653.1_Intron P21964 COMT_HUMAN catechol-O-methyltransferase 0 neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction catechol O-methyltransferase activity|magnesium ion binding|protein binding kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1) 5 Colorectal(54;0.0993) Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323) CCTCTCCAAAGAGCCAGGCAT 0.632000 3 25 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74575212 74575213 + Frame_Shift_Ins INS - - T TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5 g.chr1:74575212_74575213insT ENST00000354431.4 - 5 923_924 c.732_733insA c.(730-735)aaagcafs p.A245fs LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs|LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000468759.1_5'UTR NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 245 QQEKII -> TAGKNY (in Ref. 1; BAD18621). NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTTTCCTGCTGTTTTTTTTTGT 0.327 7 61 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20086382 20086383 + RNA INS - - AAAA TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5 g.chr14:20086382_20086383insAAAA ENST00000548261.1 + 0 135 TCTTACAAGGTAAAAAAAATGA 0.312 3 5 --- --- --- --- ZNF880 400713 broad.mit.edu 37 19 52877717 52877717 + Frame_Shift_Del DEL T T - rs77187934 TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5 g.chr19:52877717delT ENST00000597976.1 + 3 325 c.305delT c.(304-306)atfs p.I102fs ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000422689.2_Intron Q6PDB4 ZN880_HUMAN zinc finger protein 880 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 GGCCCCATAAttttttttttt 0.473 5 9 --- --- --- --- FAAH2 158584 broad.mit.edu 37 X 57358200 57358200 + Frame_Shift_Del DEL C C - TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 de1c5006-a002-47f6-b7a4-0fa3ed4a1cc5 g.chrX:57358200delC ENST00000374900.4 + 4 702 c.582delC c.(580-582)aafs p.N195fs NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 195 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 GCCGATCAAACAACCCATATG 0.388 HNSCC(52;0.14) 9 87 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 73a63ebc-f5e7-4f82-9767-572a4d623cad g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 16 213 --- --- --- --- FAAH2 158584 broad.mit.edu 37 X 57358200 57358200 + Frame_Shift_Del DEL C C - TCGA-BJ-A4O8-01A-11D-A257-08 TCGA-BJ-A4O8-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx c6163b00-1858-4448-a2ae-449c8c5f4d59 73a63ebc-f5e7-4f82-9767-572a4d623cad g.chrX:57358200delC ENST00000374900.4 + 4 702 c.582delC c.(580-582)aafs p.N195fs NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 195 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 GCCGATCAAACAACCCATATG 0.388 HNSCC(52;0.14) 9 87 --- --- --- ---