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 RRNAD1 51093 broad.mit.edu 37 1 156704062 156704062 + Nonsense_Mutation SNP C C T TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr1:156704062C>T ENST00000368216.4 + 6 1528 c.898C>T c.(898-900)Cag>Tag p.Q300* RRNAD1_ENST00000476229.1_Intron|RRNAD1_ENST00000368218.4_Intron NM_015997.3 NP_057081.3 Q96FB5 RRNAD_HUMAN ribosomal RNA adenine dimethylase domain containing 1 300 integral to membrane rRNA (adenine-N6,N6-)-dimethyltransferase activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3) 9 CCCACTGAGTCAGTGGGTGGC 0.627 8 43 --- --- --- --- COL6A6 131873 broad.mit.edu 37 3 130289977 130289977 + Missense_Mutation SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr3:130289977G>A ENST00000358511.6 + 6 2748 c.2717G>A c.(2716-2718)cGc>cAc p.R906H COL6A6_ENST00000453409.2_Missense_Mutation_p.R906H NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 906 Nonhelical region.|VWFA 5. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 CGGGGCAGCCGCCTGAACAAG 0.547 5 18 --- --- --- --- PCDHB15 56121 broad.mit.edu 37 5 140627360 140627360 + Silent SNP C C T TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr5:140627360C>T ENST00000231173.3 + 1 2214 c.2214C>T c.(2212-2214)gaC>gaT p.D738D NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 738 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATCTGGTGGACGTGAGCGGCA 0.602 5 180 --- --- --- --- MIOS 54468 broad.mit.edu 37 7 7613322 7613322 + Missense_Mutation SNP A A G TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr7:7613322A>G ENST00000340080.4 + 4 1637 c.1216A>G c.(1216-1218)Aca>Gca p.T406A MIOS_ENST00000405785.1_Missense_Mutation_p.T406A NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 406 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TGGACTTGATACAGAGCAGGT 0.373 5 81 --- --- --- --- RP1 6101 broad.mit.edu 37 8 55538088 55538088 + Missense_Mutation SNP T T C TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr8:55538088T>C ENST00000220676.1 + 4 1794 c.1646T>C c.(1645-1647)gTt>gCt p.V549A NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 549 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AGTGCTGGTGTTATAGAAATT 0.333 19 33 --- --- --- --- RALYL 138046 broad.mit.edu 37 8 85441793 85441793 + Silent SNP C C G TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr8:85441793C>G ENST00000521268.1 + 2 1342 c.237C>G c.(235-237)gtC>gtG p.V79V RALYL_ENST00000518566.1_Silent_p.V79V|RALYL_ENST00000517638.1_Silent_p.V92V|RALYL_ENST00000521695.1_Silent_p.V79V|RALYL_ENST00000522455.1_Silent_p.V79V NM_173848.5 NP_776247.3 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like 79 RRM. identical protein binding|nucleotide binding|RNA binding endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 ATGCCAGAGTCATCGCCGGCC 0.428 3 39 --- --- --- --- RCL1 10171 broad.mit.edu 37 9 4834198 4834198 + Missense_Mutation SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr9:4834198G>A ENST00000381750.4 + 5 740 c.517G>A c.(517-519)Gtg>Atg p.V173M NM_005772.3 NP_005763.3 Q9Y2P8 RCL1_HUMAN RNA terminal phosphate cyclase-like 1 173 ribosome biogenesis|RNA processing nucleolus RNA-3'-phosphate cyclase activity breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0244) CTCATGTCCTGTGAGGAAGGT 0.463 17 18 --- --- --- --- DCHS1 8642 broad.mit.edu 37 11 6649894 6649894 + Missense_Mutation SNP G G C TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr11:6649894G>C ENST00000299441.3 - 13 5740 c.5329C>G c.(5329-5331)Cca>Gca p.P1777A NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 1777 Cadherin 17. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCACATCTGGATCAGAGGCC 0.567 23 42 --- --- --- --- TENM4 26011 broad.mit.edu 37 11 78381219 78381219 + Silent SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr11:78381219G>A ENST00000278550.7 - 32 6633 c.6171C>T c.(6169-6171)taC>taT p.Y2057Y NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 CAATCTGACGGTAGCGGATGG 0.532 3 32 --- --- --- --- KDM4E 390245 broad.mit.edu 37 11 94759491 94759491 + Missense_Mutation SNP C C T TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr11:94759491C>T ENST00000450979.2 + 1 1070 c.770C>T c.(769-771)cCc>cTc p.P257L NM_001161630.1 NP_001155102.1 B2RXH2 KD4DL_HUMAN lysine (K)-specific demethylase 4E 257 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(1)|endometrium(7)|kidney(1)|lung(3) 12 AATGGGATTCCCTTCAATTGC 0.547 10 30 --- --- --- --- PTPRO 5800 broad.mit.edu 37 12 15742420 15742420 + Missense_Mutation SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr12:15742420G>A ENST00000281171.4 + 25 3772 c.3442G>A c.(3442-3444)Gcc>Acc p.A1148T PTPRO_ENST00000442921.2_Missense_Mutation_p.A337T|PTPRO_ENST00000348962.2_Missense_Mutation_p.A1120T|PTPRO_ENST00000544244.1_Missense_Mutation_p.A309T|PTPRO_ENST00000445537.2_Missense_Mutation_p.A337T|PTPRO_ENST00000542557.1_Missense_Mutation_p.A309T NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 1148 Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) AACATTCATTGCCCTGGACAG 0.468 47 105 --- --- --- --- PAN2 9924 broad.mit.edu 37 12 56722258 56722258 + Silent SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr12:56722258G>A ENST00000425394.2 - 3 826 c.450C>T c.(448-450)taC>taT p.Y150Y PAN2_ENST00000440411.3_Silent_p.Y150Y|PAN2_ENST00000548043.1_Silent_p.Y150Y|PAN2_ENST00000257931.5_Silent_p.Y150Y NM_001127460.2 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 150 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 CCACTTACAGGTAATCAAATA 0.502 4 155 --- --- --- --- RNASE7 84659 broad.mit.edu 37 14 21511516 21511516 + Missense_Mutation SNP A A G TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr14:21511516A>G ENST00000298690.4 + 2 622 c.365A>G c.(364-366)aAa>aGa p.K122R NDRG2_ENST00000403829.3_Intron NM_032572.3 NP_115961 Q9H1E1 RNAS7_HUMAN ribonuclease, RNase A family, 7 122 defense response to bacterium|innate immune response extracellular region nucleic acid binding|pancreatic ribonuclease activity endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 6 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08) GBM - Glioblastoma multiforme(265;0.0191) TGCAGGTACAAAGAGAAGCGA 0.532 15 134 --- --- --- --- OIP5 11339 broad.mit.edu 37 15 41624630 41624630 + Missense_Mutation SNP C C T TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr15:41624630C>T ENST00000220514.3 - 1 189 c.130G>A c.(130-132)Gtg>Atg p.V44M NM_007280.1 NP_009211.1 O43482 MS18B_HUMAN Opa interacting protein 5 44 cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis Cajal body|chromatin|chromosome, centromeric region protein binding endometrium(3)|lung(1)|urinary_tract(1) 5 all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175) OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163) GACCCCTTCACCACCTGCGTA 0.672 5 142 --- --- --- --- TCF12 6938 broad.mit.edu 37 15 57565238 57565238 + Missense_Mutation SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr15:57565238G>A ENST00000267811.5 + 18 1988 c.1684G>A c.(1684-1686)Gaa>Aaa p.E562K TCF12_ENST00000559710.1_Missense_Mutation_p.E196K|TCF12_ENST00000333725.5_Missense_Mutation_p.E586K|TCF12_ENST00000452095.2_Missense_Mutation_p.E582K|TCF12_ENST00000537840.1_Missense_Mutation_p.E326K|TCF12_ENST00000559703.1_Missense_Mutation_p.E219K|TCF12_ENST00000343827.3_Missense_Mutation_p.E392K|TCF12_ENST00000438423.2_Missense_Mutation_p.E586K|TCF12_ENST00000557843.1_Missense_Mutation_p.E562K|TCF12_ENST00000543579.1_Missense_Mutation_p.E416K NM_003205.3|NM_207038.1 NP_003196.1|NP_996921.1 Q99081 HTF4_HUMAN transcription factor 12 562 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TCF12/NR4A3(2) breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 36 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) CAGTACTAATGAAGATGAGGA 0.388 T TEC extraskeletal myxoid chondrosarcoma 8 18 --- --- --- --- VWA3A 146177 broad.mit.edu 37 16 22132353 22132353 + Missense_Mutation SNP C C A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr16:22132353C>A ENST00000389398.5 + 13 1277 c.1181C>A c.(1180-1182)gCt>gAt p.A394D VWA3A_ENST00000389397.4_5'UTR NM_173615.3 NP_775886.3 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 394 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) AAGCATGACGCTCCTCTCACC 0.443 5 61 --- --- --- --- CIAPIN1 57019 broad.mit.edu 37 16 57468061 57468061 + Missense_Mutation SNP T T A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr16:57468061T>A ENST00000394391.4 - 5 692 c.451A>T c.(451-453)Agt>Tgt p.S151C CIAPIN1_ENST00000569370.1_Missense_Mutation_p.S151C|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000568940.1_Missense_Mutation_p.S151C|CIAPIN1_ENST00000569979.1_Missense_Mutation_p.S151C|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.S138C|CIAPIN1_ENST00000565961.1_Missense_Mutation_p.S124C NM_020313.2 NP_064709.2 Q6FI81 CPIN1_HUMAN cytokine induced apoptosis inhibitor 1 151 anti-apoptosis|apoptosis cytoplasm|nucleolus cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 10 AGGTTGTCACTTTCATGACCA 0.463 16 96 --- --- --- --- C16orf80 29105 broad.mit.edu 37 16 58149203 58149203 + Silent SNP G G C TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr16:58149203G>C ENST00000262498.3 - 4 769 c.435C>G c.(433-435)ggC>ggG p.G145G C16orf80_ENST00000562443.1_5'UTR NM_013242.2 NP_037374.1 Q9Y6A4 CP080_HUMAN chromosome 16 open reading frame 80 145 multicellular organismal development kidney(1)|large_intestine(1)|lung(1)|prostate(1) 4 TGTAATTGGTGCCGTATGCTC 0.552 54 91 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8526221 8526221 + Splice_Site SNP T T G TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr17:8526221T>G ENST00000360416.3 - 2 482 c.344A>C c.(343-345)tAt>tCt p.Y115S MYH10_ENST00000269243.4_Splice_Site_p.Y115S|MYH10_ENST00000379980.4_Splice_Site_p.Y115S|MYH10_ENST00000396239.1_Splice_Site_p.Y115S NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 115 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 AATACTTACATAGATTAGTCC 0.348 12 24 --- --- --- --- KSR1 8844 broad.mit.edu 37 17 25950427 25950427 + Missense_Mutation SNP A A G TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr17:25950427A>G ENST00000578981.1 + 2 327 c.149A>G c.(148-150)tAt>tGt p.Y50C AC015688.3_ENST00000584605.1_Missense_Mutation_p.Y13C|KSR1_ENST00000319524.6_3'UTR|KSR1_ENST00000398988.3_3'UTR|KSR1_ENST00000582410.1_3'UTR Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 0 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) AGCCAGCCATATGGTTTTTCG 0.463 5 16 --- --- --- --- DNAH17 8632 broad.mit.edu 37 17 76496390 76496390 + Nonsense_Mutation SNP G G T TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr17:76496390G>T ENST00000389840.5 - 36 5719 c.5595C>A c.(5593-5595)taC>taA p.Y1865* DNAH17_ENST00000585328.1_Nonsense_Mutation_p.Y1874*|DNAH17-AS1_ENST00000598378.1_Missense_Mutation_p.V108L dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CGCGTACCTTGTAGTCCATCT 0.612 4 19 --- --- --- --- ACAA2 10449 broad.mit.edu 37 18 47311571 47311571 + Missense_Mutation SNP A A C TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr18:47311571A>C ENST00000285093.10 - 9 1580 c.1105T>G c.(1105-1107)Tta>Gta p.L369V ACAA2_ENST00000587994.1_Missense_Mutation_p.L366V|ACAA2_ENST00000589432.1_Missense_Mutation_p.L314V NM_006111.2 NP_006102.2 P42765 THIM_HUMAN acetyl-CoA acyltransferase 2 369 anti-apoptosis|cholesterol biosynthetic process acetyl-CoA C-acyltransferase activity|protein binding large_intestine(2)|lung(7)|ovary(1) 10 AAATACCTTAATTCGTGAACC 0.398 4 65 --- --- --- --- CYP4F22 126410 broad.mit.edu 37 19 15662136 15662136 + Nonsense_Mutation SNP G G T TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr19:15662136G>T ENST00000269703.3 + 14 1649 c.1450G>T c.(1450-1452)Gag>Tag p.E484* CYP4F22_ENST00000601005.2_Nonsense_Mutation_p.E484* NM_173483.3 NP_775754.2 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 22 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 CGCCATGGCCGAGTTGCGCGT 0.637 14 15 --- --- --- --- CYP4F12 66002 broad.mit.edu 37 19 15794476 15794476 + Missense_Mutation SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr19:15794476G>A ENST00000550308.1 + 7 1201 c.821G>A c.(820-822)cGg>cAg p.R274Q CYP4F12_ENST00000324632.10_Missense_Mutation_p.R274Q NM_023944.3 NP_076433 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) ATCCGGGAGCGGCGTCGCACC 0.537 33 99 --- --- --- --- SUGP1 57794 broad.mit.edu 37 19 19431287 19431287 + Missense_Mutation SNP T T A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr19:19431287T>A ENST00000247001.5 - 1 366 c.19A>T c.(19-21)Aac>Tac p.N7Y SUGP1_ENST00000334782.5_Missense_Mutation_p.N7Y|SUGP1_ENST00000585763.1_5'UTR NM_172231.3 NP_757386.2 Q8IWZ8 SUGP1_HUMAN SURP and G patch domain containing 1 7 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 22 ACATCCCGGTTGTCCATCTTG 0.632 28 81 --- --- --- --- BCAT2 587 broad.mit.edu 37 19 49299745 49299745 + Silent SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr19:49299745G>A ENST00000402551.1 - 11 1580 c.960C>T c.(958-960)ccC>ccT p.P320P BCAT2_ENST00000598162.1_Silent_p.P360P|BCAT2_ENST00000597011.1_Silent_p.P320P|BCAT2_ENST00000316273.6_Silent_p.P360P|BCAT2_ENST00000545387.2_Silent_p.P268P|BCAT2_ENST00000599246.1_Silent_p.P268P NM_001284325.1 NP_001271254.1 O15382 BCAT2_HUMAN branched chain amino-acid transaminase 2, mitochondrial 360 mitochondrial matrix L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 12 all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224) L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114) TTTCCATGGTGGGAATGTGGA 0.607 33 78 --- --- --- --- UNK 85451 broad.mit.edu 37 17 73780852 73780852 + Frame_Shift_Del DEL G G - TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr17:73780852delG ENST00000293218.3 + 2 119 c.119delG c.(118-120)tggfs p.W40fs H3F3B_ENST00000586607.1_Intron|UNK_ENST00000589666.1_5'UTR Q9C0B0 UNK_HUMAN unkempt family zinc finger 0 nucleic acid binding|zinc ion binding cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 25 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) GCTGCCGTGTGGGGGGTCTTC 0.617 7 28 --- --- --- ---