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 SCN9A 6335 broad.mit.edu 37 2 167055182 167055182 + Nonstop_Mutation SNP C C G TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr2:167055182C>G ENST00000375387.4 - 27 6310 c.5970G>C c.(5968-5970)taG>taC p.*1990Y AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Nonstop_Mutation_p.*1978Y|SCN9A_ENST00000409435.1_Nonstop_Mutation_p.*1989Y|SCN9A_ENST00000303354.6_Nonstop_Mutation_p.*1990Y Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 0 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) AAATGAAGCTCTATTTTTTGC 0.318000 11 17 0 0 0.069234 0 0 KRAS 3845 broad.mit.edu 37 12 25380276 25380276 + Missense_Mutation SNP T T C rs121913240 TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr12:25380276T>C ENST00000311936.3 - 3 373 c.182A>G c.(181-183)cAa>cGa p.Q61R KRAS_ENST00000256078.4_Missense_Mutation_p.Q61R|KRAS_ENST00000557334.1_Intron NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 61 Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.Q61L(73)|p.Q61R(56)|p.Q61P(12) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GTACTCCTCTTGACCTGCTGT 0.418000 Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 34 76 0 0 0.074837 0 0 RPUSD1 113000 broad.mit.edu 37 16 837367 837367 + Missense_Mutation SNP G G A TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr16:837367G>A ENST00000561734.1 - 2 536 c.293C>T c.(292-294)gCt>gTt p.A98V RPUSD1_ENST00000007264.2_Missense_Mutation_p.A98V|RPUSD1_ENST00000567114.1_5'UTR|RPUSD1_ENST00000565809.1_Missense_Mutation_p.A98V Q9UJJ7 RUSD1_HUMAN RNA pseudouridylate synthase domain containing 1 98 pseudouridine synthesis pseudouridine synthase activity|RNA binding endometrium(3)|lung(2)|skin(2) 7 Hepatocellular(780;0.00335) TGCCAGGTAAGCCTTGGTCAC 0.657000 8 14 0 0 0.047766 0 0 ADM 133 broad.mit.edu 37 11 10327267 10327267 + Missense_Mutation SNP C C T TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr11:10327267C>T ENST00000528655.1 + 1 637 c.20C>T c.(19-21)gCc>gTc p.A7V ADM_ENST00000526492.1_Missense_Mutation_p.A7V|ADM_ENST00000534464.1_5'UTR|ADM_ENST00000278175.5_Missense_Mutation_p.A7V|ADM_ENST00000528544.1_Missense_Mutation_p.A7V|ADM_ENST00000524948.1_Missense_Mutation_p.A7V|ADM_ENST00000530439.1_5'UTR|ADM_ENST00000525063.1_Missense_Mutation_p.A7V P35318 ADML_HUMAN adrenomedullin 7 blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding cytoplasm|extracellular space|soluble fraction hormone activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1) 6 all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257) GTTTCCGTCGCCCTGATGTAC 0.642000 43 56 0 0 0.111260 0 0 ABCF1 23 broad.mit.edu 37 6 30553911 30553911 + Splice_Site SNP G G C TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr6:30553911G>C ENST00000326195.8 + 18 1826 c.1713_splice c.e18-1 p.E572_splice ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Splice_Site_p.E534_splice NM_001025091.1 NP_001020262.1 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F (GCN20), member 1 572 inflammatory response|translational initiation nuclear envelope|nucleoplasm|polysomal ribosome ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2) 21 TCCTCTCCAGGAAAAACAAAC 0.552000 29 40 0 0 0.108266 0 0 PTGES 9536 broad.mit.edu 37 9 132511009 132511009 + Missense_Mutation SNP G G A TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr9:132511009G>A ENST00000340607.4 - 2 168 c.134C>T c.(133-135)gCc>gTc p.A45V PTGES_ENST00000481476.1_5'UTR NM_004878.4 NP_004869.1 O14684 PTGES_HUMAN prostaglandin E synthase 45 prostaglandin biosynthetic process|signal transduction integral to membrane|membrane fraction glutathione binding|prostaglandin-E synthase activity lung(1)|skin(1) 2 Ovarian(14;0.00556) CTCGGGGTTGGCAAAGGCCTG 0.592000 3 51 0 0 0.115264 0 0 COL3A1 1281 broad.mit.edu 37 2 189853339 189853339 + Silent SNP C C A TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr2:189853339C>A ENST00000304636.3 + 7 776 c.606C>A c.(604-606)ccC>ccA p.P202P COL3A1_ENST00000317840.5_Silent_p.P202P NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 202 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) ACCAAGGACCCCCTGGTGAAC 0.328000 3 84 0.150653 0.155361 0.150653 1 0 NCOR2 9612 broad.mit.edu 37 12 124887093 124887093 + Silent SNP C C T TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr12:124887093C>T ENST00000356219.3 - 15 1652 c.1497G>A c.(1495-1497)caG>caA p.Q499Q NCOR2_ENST00000404621.1_Silent_p.Q498Q|NCOR2_ENST00000405201.1_Silent_p.Q499Q|NCOR2_ENST00000404121.2_Silent_p.Q69Q|NCOR2_ENST00000397355.1_Silent_p.Q499Q|NCOR2_ENST00000429285.2_Silent_p.Q498Q NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 499 Poly-Gln. cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity p.Q499Q(9) breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) gctgctgctgctgttgttgct 0.617000 2 3 0 0 0.115264 0 0 ATP2A2 488 broad.mit.edu 37 12 110771021 110771021 + Missense_Mutation SNP A A G TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr12:110771021A>G ENST00000395494.2 + 9 1702 c.1139A>G c.(1138-1140)tAt>tGt p.Y380C ATP2A2_ENST00000308664.6_Missense_Mutation_p.Y407C|ATP2A2_ENST00000539276.2_Missense_Mutation_p.Y407C P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 407 Interacts with phospholamban 1 (By similarity). ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 TGTCACCAGTATGATGGTCTG 0.423000 81 126 0 0 0.139131 0 0 KMT2A 4297 broad.mit.edu 37 11 118343146 118343146 + Silent SNP C C T TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr11:118343146C>T ENST00000534358.1 + 3 1295 c.1272C>T c.(1270-1272)acC>acT p.T424T KMT2A_ENST00000389506.5_Silent_p.T424T|KMT2A_ENST00000354520.4_Silent_p.T424T NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A TCATTAAGACCCCTCGGCGGT 0.473000 4 193 0 0 0.014758 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77354989 77354989 + Silent SNP C C T TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr16:77354989C>T ENST00000282849.5 - 15 2692 c.2274G>A c.(2272-2274)caG>caA p.Q758Q NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 758 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TTGCTTTATGCTGGTTGAGGT 0.403000 5 203 0 0 0.014758 0 0 HLA-DMA 3108 broad.mit.edu 37 6 32917464 32917464 + Silent SNP G G A TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr6:32917464G>A ENST00000374843.4 - 3 661 c.576C>T c.(574-576)ttC>ttT p.F192F HLA-DMA_ENST00000395303.3_Silent_p.F158F|HLA-DMA_ENST00000395305.3_Silent_p.F97F|HLA-DMA_ENST00000464392.1_5'UTR|XXbac-BPG181M17.5_ENST00000429234.1_Intron NM_006120.3 NP_006111.2 Q31604 Q31604_HUMAN major histocompatibility complex, class II, DM alpha 192 integral to membrane|MHC class II protein complex kidney(1)|large_intestine(2)|lung(8) 11 GTTCTGGTGTGAAGTTTAAGT 0.478000 4 102 0 0 0.150653 0 0 KIAA0895L 653319 broad.mit.edu 37 16 67213988 67213988 + Missense_Mutation SNP C C T TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr16:67213988C>T ENST00000290881.7 - 3 1452 c.526G>A c.(526-528)Gtg>Atg p.V176M KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.V176M|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.V176M Q68EN5 K895L_HUMAN KIAA0895-like 176 p.V176L(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1) 17 TTTTCCAGCACAGCCGTGGGC 0.582000 36 88 0 0 0.064281 0 0 SLA 6503 broad.mit.edu 37 8 134050906 134050906 + Missense_Mutation SNP T T G TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr8:134050906T>G ENST00000338087.5 - 9 1513 c.694A>C c.(694-696)Agc>Cgc p.S232R SLA_ENST00000517648.1_Missense_Mutation_p.S205R|TG_ENST00000220616.4_Intron|TG_ENST00000542445.1_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.S272R|TG_ENST00000519543.1_Intron|SLA_ENST00000395352.3_Missense_Mutation_p.S249R|SLA_ENST00000524345.1_Missense_Mutation_p.S124R NM_001045556.2 NP_001039021.1 Q13239 SLAP1_HUMAN Src-like-adaptor 232 SLA C-terminal. endosome SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1) 17 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) GAGGCAATGCTCTCTCGAAGG 0.532000 7 99 0 0 0.139131 0 0 VASH1 22846 broad.mit.edu 37 14 77239567 77239567 + Silent SNP A A G rs2075772 by1000genomes TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr14:77239567A>G ENST00000554237.1 + 4 1036 c.543A>G c.(541-543)tcA>tcG p.S181S VASH1_ENST00000556038.1_Intron|VASH1_ENST00000167106.4_Intron Q7L8A9 VASH1_HUMAN vasohibin 1 0 cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation endoplasmic reticulum|extracellular space p.S181S(1) breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3) 10 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0283) ATCCTTCCTCACCTGAAGGGG 0.582000 4 73 0 0 0.014758 0 0 MFAP3L 9848 broad.mit.edu 37 4 170913279 170913279 + Silent SNP G G A TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr4:170913279G>A ENST00000361618.3 - 3 787 c.480C>T c.(478-480)gcC>gcT p.A160A RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Silent_p.A57A NM_021647.6 NP_067679.6 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like 160 integral to membrane|plasma membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) CGATGGTGAAGGCCACCAGGC 0.512000 7 159 0 0 0.038147 0 0 ANKRD42 338699 broad.mit.edu 37 11 82959006 82959006 + Missense_Mutation SNP C C T TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr11:82959006C>T ENST00000393392.2 + 10 1295 c.1133C>T c.(1132-1134)gCc>gTc p.A378V ANKRD42_ENST00000528190.1_3'UTR|ANKRD42_ENST00000533342.1_Silent_p.G448G|ANKRD42_ENST00000531895.1_Silent_p.G448G|ANKRD42_ENST00000260047.6_Silent_p.G447G NM_182603.2 NP_872409.2 Q8N9B4 ANR42_HUMAN ankyrin repeat domain 42 378 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 AACTGCAGGGCCAGCTGGAGT 0.343000 3 38 0 0 0.150653 0 0 SPATS2 65244 broad.mit.edu 37 12 49890689 49890689 + Silent SNP A A G TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr12:49890689A>G ENST00000553127.1 + 9 1113 c.600A>G c.(598-600)caA>caG p.Q200Q SPATS2_ENST00000321898.6_Silent_p.Q200Q|SPATS2_ENST00000552918.1_Silent_p.Q200Q|SPATS2_ENST00000552557.1_3'UTR Q86XZ4 SPAS2_HUMAN spermatogenesis associated, serine-rich 2 200 cytoplasm breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4) 21 ACAATTCTCAACAACCCAGGA 0.438000 69 94 0 0 0.139131 0 0 CROCCP2 0 broad.mit.edu 37 1 16945358 16945358 + RNA SNP G G C rs945905 by1000genomes TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr1:16945358G>C ENST00000412962.1 - 0 2161 AGTAGGAGAAGAGAGAGGAAG 0.567000 5 40 0 0 0.014758 0 0 ABCB7 22 broad.mit.edu 37 X 74332769 74332769 + Silent SNP A A G TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chrX:74332769A>G ENST00000253577.3 - 3 312 c.288T>C c.(286-288)tgT>tgC p.C96C ABCB7_ENST00000373394.3_Silent_p.C95C|ABCB7_ENST00000339447.4_Silent_p.C95C NM_001271696.1|NM_004299.3 NP_001258625.1|NP_004290.2 O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 7 95 cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1) 20 GACCATGCCAACATGTCCTCT 0.438000 9 244 0 0 0.069234 0 0 APOBEC3G 60489 broad.mit.edu 37 22 39475061 39475061 + Missense_Mutation SNP C C A TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr22:39475061C>A ENST00000407997.3 + 2 499 c.142C>A c.(142-144)Cct>Act p.P48T APOBEC3G_ENST00000452957.2_Missense_Mutation_p.P48T|APOBEC3G_ENST00000461827.1_3'UTR NM_021822.3 NP_068594.1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1) 12 Melanoma(58;0.04) CTCAAGGCCCCCTTTGGACGC 0.507000 3 51 0.00909568 0.0096825 0.150653 1 0 MITF 4286 broad.mit.edu 37 3 69987187 69987187 + Missense_Mutation SNP A A G TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr3:69987187A>G ENST00000352241.4 + 3 732 c.569A>G c.(568-570)aAc>aGc p.N190S MITF_ENST00000448226.2_Missense_Mutation_p.N190S|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000394355.2_Missense_Mutation_p.N165S|MITF_ENST00000472437.1_Missense_Mutation_p.N138S|MITF_ENST00000394351.3_Missense_Mutation_p.N83S|MITF_ENST00000531774.1_Intron|MITF_ENST00000314589.5_Missense_Mutation_p.N174S|MITF_ENST00000314557.6_Missense_Mutation_p.N83S|MITF_ENST00000328528.6_Missense_Mutation_p.N189S NM_198159.2 NP_937802.1 O75030 MITF_HUMAN microphthalmia-associated transcription factor 190 melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2) 30 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) CTTAACTCCAACTGTGAAAAA 0.488000 A melanoma """Waardenburg syndrome type 2, Tietz syndrome""" 41 70 0 0 0.086207 0 0 GPT 2875 broad.mit.edu 37 8 145731945 145731945 + Missense_Mutation SNP A A G TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr8:145731945A>G ENST00000394955.2 + 9 1416 c.1193A>G c.(1192-1194)aAt>aGt p.N398S GPT_ENST00000528431.1_Missense_Mutation_p.N398S NM_005309.2 NP_005300.1 P24298 ALAT1_HUMAN glutamic-pyruvate transaminase (alanine aminotransferase) 398 gluconeogenesis cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CAGGTCTTCAATGAGGCTCCT 0.692000 5 9 0 0 0.029380 0 0 PBX2P1 0 broad.mit.edu 37 3 142895155 142895155 + RNA DEL C C - TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr3:142895155delC ENST00000560287.1 + 0 29 GGCCTCAGGGCCCCCCCCCAG 0.746 4 3 --- --- --- --- GTF2IRD1P1 0 broad.mit.edu 37 7 66304731 66304731 + RNA DEL T T - TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr7:66304731delT ENST00000457166.1 - 0 189 NR_003934.1 TTTCTTTCCCttttttttttt 0.512 6 10 --- --- --- --- TEX15 56154 broad.mit.edu 37 8 30695491 30695491 + Frame_Shift_Del DEL T T - TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr8:30695491delT ENST00000256246.2 - 3 7234 c.7160delA c.(7159-7161)agfs p.K2387fs NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2387 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CATTTCAACCTTTTTTGGCGT 0.388 7 323 --- --- --- --- RP11-15J10.8 0 broad.mit.edu 37 9 70117581 70117581 + RNA DEL G G - TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr9:70117581delG ENST00000588215.1 - 0 82 GGTCTTCAGAGGTTTACCCTC 0.423 3 3 --- --- --- --- MEN1 0 broad.mit.edu 37 11 64575515 64575515 + Frame_Shift_Del DEL G G - TCGA-BJ-A0ZE-01A-11D-A10S-08 TCGA-BJ-A0ZE-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 351bea69-3247-4c7f-914f-72722a03545b a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f g.chr11:64575515delG ENST00000337652.1 - 3 1020 c.517delC c.(517-519)tgfs p.L173fs MEN1_ENST00000312049.6_Frame_Shift_Del_p.L168fs|MEN1_ENST00000394374.2_Frame_Shift_Del_p.L173fs|MEN1_ENST00000377326.3_Frame_Shift_Del_p.L168fs|MEN1_ENST00000377316.2_Frame_Shift_Del_p.L168fs|MEN1_ENST00000377321.1_Frame_Shift_Del_p.L168fs|MEN1_ENST00000315422.4_Frame_Shift_Del_p.L168fs|MEN1_ENST00000443283.1_Frame_Shift_Del_p.L173fs|MEN1_ENST00000377313.1_Frame_Shift_Del_p.L173fs|MEN1_ENST00000394376.1_Frame_Shift_Del_p.L173fs NM_130803.2 NP_570715.1 O00255 MEN1_HUMAN multiple endocrine neoplasia I 173 L -> P (in MEN1).|Missing (in MEN1). DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding p.A167fs*10(1) NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 CGGAGACCCAGGGCCTGGCAG 0.602 """D, Mis, N, F, S""" """parathyroid tumors, Pancreatic neuroendocrine tumors""" """parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid""" Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated 21 41 --- --- --- ---