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 CYP4Z2P 163720 broad.mit.edu 37 1 47325397 47325397 + RNA SNP G G C TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr1:47325397G>C ENST00000505841.1 - 0 1132 NR_002788.2 TACTACCGGTGCGTAGAGGCG 0.473 7 75 --- --- --- --- SPTA1 6708 broad.mit.edu 37 1 158606500 158606500 + Silent SNP C C A TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr1:158606500C>A ENST00000368147.4 - 37 5421 c.5241G>T c.(5239-5241)ggG>ggT p.G1747G NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AGTTCTGAACCCCCTGAAGAT 0.463 24 118 --- --- --- --- ASTN1 460 broad.mit.edu 37 1 176927554 176927554 + Missense_Mutation SNP C C G TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr1:176927554C>G ENST00000367654.3 - 10 1898 c.1687G>C c.(1687-1689)Gcc>Ccc p.A563P ASTN1_ENST00000361833.2_Missense_Mutation_p.A555P|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.A555P|ASTN1_ENST00000424564.2_Missense_Mutation_p.A555P NM_004319.1 NP_004310.1 O14525 ASTN1_HUMAN astrotactin 1 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GCCAGTTCGGCTGGTGGAATC 0.562 18 22 --- --- --- --- MAP2 4133 broad.mit.edu 37 2 210561313 210561313 + Missense_Mutation SNP G G C TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr2:210561313G>C ENST00000360351.4 + 8 4734 c.4228G>C c.(4228-4230)Gag>Cag p.E1410Q MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E1406Q|MAP2_ENST00000392194.1_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1410 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TATTCCTAAAGAGGAGAAAGC 0.383 17 38 --- --- --- --- MFF 56947 broad.mit.edu 37 2 228197187 228197187 + Missense_Mutation SNP G G T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr2:228197187G>T ENST00000353339.3 + 5 753 c.312G>T c.(310-312)caG>caT p.Q104H MFF_ENST00000354503.6_Missense_Mutation_p.Q78H|MFF_ENST00000409565.1_Missense_Mutation_p.Q78H|MFF_ENST00000304593.9_Missense_Mutation_p.Q78H|MFF_ENST00000409616.1_Missense_Mutation_p.Q78H|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000337110.7_Missense_Mutation_p.Q78H|MFF_ENST00000349901.7_Missense_Mutation_p.Q78H|MFF_ENST00000392059.1_Missense_Mutation_p.Q104H|MFF_ENST00000524634.1_5'UTR NM_001277061.1 NP_001263990.1 Q9GZY8 MFF_HUMAN mitochondrial fission factor 104 integral to membrane|mitochondrial outer membrane breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2) 21 ACCTTATTCAGTCAACTCCCT 0.403 6 223 --- --- --- --- FAT4 79633 broad.mit.edu 37 4 126319977 126319977 + Silent SNP A A T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr4:126319977A>T ENST00000394329.3 + 2 5227 c.5214A>T c.(5212-5214)ccA>ccT p.P1738P FAT4_ENST00000335110.5_Silent_p.P36P NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1738 Cadherin 16. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ACAATCCACCAGTATTTCCAA 0.428 50 79 --- --- --- --- DCHS2 54798 broad.mit.edu 37 4 155254133 155254133 + Missense_Mutation SNP C C T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr4:155254133C>T ENST00000357232.4 - 9 1729 c.1730G>A c.(1729-1731)cGc>cAc p.R577H DCHS2_ENST00000339452.1_Missense_Mutation_p.R1076H NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GCTGTGTTCGCGTTTCTCGAT 0.577 27 44 --- --- --- --- ADGRG6 57211 broad.mit.edu 37 6 142630689 142630689 + Missense_Mutation SNP G G A TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr6:142630689G>A ENST00000230173.6 + 2 487 c.11G>A c.(10-12)cGc>cAc p.R4H GPR126_ENST00000367608.2_Missense_Mutation_p.R4H|GPR126_ENST00000296932.8_Missense_Mutation_p.R4H|GPR126_ENST00000367609.3_Missense_Mutation_p.R4H|GPR126_ENST00000545477.1_3'UTR NM_020455.5 NP_065188 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 4 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) AGGATGTTTCGCTCAGATCGA 0.393 3 6 --- --- --- --- EPPK1 83481 broad.mit.edu 37 8 144940884 144940884 + Missense_Mutation SNP G G C TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr8:144940884G>C ENST00000525985.1 - 2 6609 c.6538C>G c.(6538-6540)Cag>Gag p.Q2180E P58107 EPIPL_HUMAN epiplakin 1 2180 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCTGTGATCTGTCGTCTAATT 0.537 93 262 --- --- --- --- PLEC 5339 broad.mit.edu 37 8 144990642 144990642 + Silent SNP C C G TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr8:144990642C>G ENST00000322810.4 - 32 13927 c.13758G>C c.(13756-13758)gcG>gcC p.A4586A PLEC_ENST00000398774.2_Silent_p.A4417A|PLEC_ENST00000356346.3_Silent_p.A4435A|PLEC_ENST00000354589.3_Silent_p.A4449A|PLEC_ENST00000354958.2_Silent_p.A4427A|PLEC_ENST00000527096.1_Silent_p.A4472A|PLEC_ENST00000436759.2_Silent_p.A4476A|PLEC_ENST00000345136.3_Silent_p.A4449A|PLEC_ENST00000357649.2_Silent_p.A4453A NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4586 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TGCGGTCCAGCGCGTCCTTAT 0.657 4 246 --- --- --- --- GBF1 8729 broad.mit.edu 37 10 104140384 104140384 + Missense_Mutation SNP G G A TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr10:104140384G>A ENST00000369983.3 + 38 5371 c.5111G>A c.(5110-5112)cGc>cAc p.R1704H NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 1704 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding p.R1704H(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) ACCTGGGAACGCATTGACTGT 0.557 5 329 --- --- --- --- C10orf137 26098 broad.mit.edu 37 10 127431798 127431798 + Missense_Mutation SNP G G T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr10:127431798G>T ENST00000337623.3 + 17 2546 c.2441G>T c.(2440-2442)gGt>gTt p.G814V C10orf137_ENST00000356792.4_Missense_Mutation_p.G848V NM_015608.2 NP_056423.2 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 848 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) AATGAAATTGGTGTGTTTTAC 0.363 11 28 --- --- --- --- SERGEF 26297 broad.mit.edu 37 11 18026082 18026082 + Splice_Site SNP T T C TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr11:18026082T>C ENST00000265965.5 - 4 504 c.353A>G c.(352-354)gAa>gGa p.E118G RP1-59M18.2_ENST00000525523.1_RNA|SERGEF_ENST00000528200.1_Splice_Site_p.E118G|SERGEF_ENST00000532212.1_5'UTR|SERGEF_ENST00000532265.1_Splice_Site_p.E4G NM_012139.2 NP_036271.1 Q9UGK8 SRGEF_HUMAN secretion regulating guanine nucleotide exchange factor 118 negative regulation of protein secretion|signal transduction cytoplasm|nucleus protein binding|Ran guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5) 12 TTGACCATTTTCTGCAAAATA 0.453 7 9 --- --- --- --- LRRC4C 57689 broad.mit.edu 37 11 40136892 40136892 + Missense_Mutation SNP T T A TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr11:40136892T>A ENST00000278198.2 - 2 2914 c.951A>T c.(949-951)aaA>aaT p.K317N LRRC4C_ENST00000530763.1_Missense_Mutation_p.K317N|LRRC4C_ENST00000527150.1_Missense_Mutation_p.K317N|LRRC4C_ENST00000528697.1_Missense_Mutation_p.K317N Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 317 LRRCT. regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GGGCCATGTCTTTTATCCACC 0.483 27 28 --- --- --- --- CACNA1C 775 broad.mit.edu 37 12 2676868 2676868 + Silent SNP G G A TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr12:2676868G>A ENST00000399655.1 + 13 2068 c.1803G>A c.(1801-1803)ctG>ctA p.L601L CACNA1C_ENST00000480911.1_Silent_p.L601L|CACNA1C_ENST00000399595.1_Silent_p.L601L|CACNA1C_ENST00000406454.3_Silent_p.L601L|CACNA1C_ENST00000399597.1_Silent_p.L601L|CACNA1C_ENST00000399641.1_Silent_p.L601L|CACNA1C_ENST00000399591.1_Silent_p.L601L|CACNA1C_ENST00000399606.1_Silent_p.L601L|CACNA1C_ENST00000399634.1_Silent_p.L601L|CACNA1C_ENST00000399638.1_Silent_p.L601L|CACNA1C_ENST00000399621.1_Silent_p.L601L|CACNA1C_ENST00000399617.1_Silent_p.L601L|CACNA1C_ENST00000399644.1_Silent_p.L601L|CACNA1C_ENST00000399649.1_Silent_p.L601L|CACNA1C_ENST00000335762.5_Silent_p.L626L|CACNA1C_ENST00000399637.1_Silent_p.L601L|CACNA1C_ENST00000344100.3_Silent_p.L601L|CACNA1C_ENST00000399601.1_Silent_p.L601L|CACNA1C_ENST00000399629.1_Silent_p.L601L|CACNA1C_ENST00000402845.3_Silent_p.L601L|CACNA1C_ENST00000347598.4_Silent_p.L601L|CACNA1C_ENST00000327702.7_Silent_p.L601L|CACNA1C_ENST00000399603.1_Silent_p.L601L NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 601 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity p.L601L(3)|p.L136L(1)|p.L631L(1) NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GCGGCATCCTGGAGACCATCC 0.582 14 18 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49427537 49427537 + Missense_Mutation SNP G G T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr12:49427537G>T ENST00000301067.7 - 39 10950 c.10951C>A c.(10951-10953)Caa>Aaa p.Q3651K NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCTCCGGCTTGCCCACCCGGA 0.662 3 23 --- --- --- --- ACACB 32 broad.mit.edu 37 12 109703025 109703025 + Silent SNP T T C TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr12:109703025T>C ENST00000338432.7 + 51 7172 c.7053T>C c.(7051-7053)agT>agC p.S2351S ACACB_ENST00000377854.5_Silent_p.S2281S|ACACB_ENST00000377848.3_Silent_p.S2351S|ACACB_ENST00000543201.1_3'UTR O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 2351 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GGGAGCTGAGTCACGTGCATA 0.652 10 74 --- --- --- --- MGA 23269 broad.mit.edu 37 15 41961930 41961930 + Nonsense_Mutation SNP G G T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr15:41961930G>T ENST00000219905.7 + 2 1019 c.838G>T c.(838-840)Gaa>Taa p.E280* MGA_ENST00000389936.4_Nonsense_Mutation_p.E280*|MGA_ENST00000570161.1_Nonsense_Mutation_p.E280*|MGA_ENST00000566586.1_Nonsense_Mutation_p.E280*|MGA_ENST00000545763.1_Nonsense_Mutation_p.E280*|MGA_ENST00000568630.1_Intron NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 280 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) CTCTGACCAAGAAGGGAATAA 0.448 3 3 --- --- --- --- FGF7 2252 broad.mit.edu 37 15 49716687 49716687 + Nonsense_Mutation SNP A A T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr15:49716687A>T ENST00000267843.4 + 2 804 c.193A>T c.(193-195)Aga>Tga p.R65* FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560270.1_Nonsense_Mutation_p.R65* NM_002009.3 NP_002000.1 P21781 FGF7_HUMAN fibroblast growth factor 7 65 actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth chemoattractant activity|growth factor activity kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_lung(180;0.00391) all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05) Palifermin(DB00039) AGGGGATATAAGAGTGAGAAG 0.423 3 47 --- --- --- --- MYO15A 51168 broad.mit.edu 37 17 18052096 18052096 + Silent SNP C C T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr17:18052096C>T ENST00000205890.5 + 33 7124 c.6786C>T c.(6784-6786)cgC>cgT p.R2262R NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 2262 Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) ATGGCTGGCGCGGCTGGACCG 0.602 10 10 --- --- --- --- SMCR8 140775 broad.mit.edu 37 17 18220605 18220605 + Missense_Mutation SNP T T G TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr17:18220605T>G ENST00000406438.3 + 1 1982 c.1502T>G c.(1501-1503)gTg>gGg p.V501G NM_144775.2 NP_658988.2 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, candidate 8 501 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 AGCCCCCAGGTGGTCCGGAGC 0.532 65 58 --- --- --- --- PTPRM 5797 broad.mit.edu 37 18 8143703 8143703 + Missense_Mutation SNP A A C TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr18:8143703A>C ENST00000332175.8 + 14 3263 c.2226A>C c.(2224-2226)aaA>aaC p.K742N PTPRM_ENST00000400053.4_Missense_Mutation_p.K680N|PTPRM_ENST00000444013.1_Missense_Mutation_p.K529N|PTPRM_ENST00000400060.4_Missense_Mutation_p.K742N|PTPRM_ENST00000580170.1_Missense_Mutation_p.K742N NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 742 homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) ATACAGTTAAAATTGCTGGAG 0.448 51 54 --- --- --- --- VAV1 7409 broad.mit.edu 37 19 6850726 6850726 + Silent SNP A A C TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr19:6850726A>C ENST00000304076.2 + 23 2203 c.2109A>C c.(2107-2109)ggA>ggC p.G703G VAV1_ENST00000539284.1_Silent_p.G628G|VAV1_ENST00000599806.1_Silent_p.G670G|VAV1_ENST00000602142.1_Silent_p.G725G|VAV1_ENST00000596764.1_Silent_p.G693G NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 725 SH2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 CAGCAGAAGGACTGTACCGGA 0.552 27 31 --- --- --- --- POU2F2 5452 broad.mit.edu 37 19 42599443 42599443 + Missense_Mutation SNP G G T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr19:42599443G>T ENST00000389341.5 - 11 1144 c.1078C>A c.(1078-1080)Cat>Aat p.H360N POU2F2_ENST00000526816.2_Missense_Mutation_p.H376N|POU2F2_ENST00000560398.1_Missense_Mutation_p.H382N|POU2F2_ENST00000533720.1_Missense_Mutation_p.H360N|POU2F2_ENST00000560558.1_Missense_Mutation_p.H321N|POU2F2_ENST00000529952.1_Missense_Mutation_p.H376N|POU2F2_ENST00000342301.4_Missense_Mutation_p.H376N|POU2F2_ENST00000529067.1_Missense_Mutation_p.H360N NM_001207025.2|NM_001247994.1|NM_002698.4 NP_001193954.1|NP_001234923.1|NP_002689.1 P09086 PO2F2_HUMAN POU class 2 homeobox 2 376 humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(69;0.059) GGTACCATATGGGGGCTGTAG 0.652 7 11 --- --- --- --- SLC12A5 57468 broad.mit.edu 37 20 44674562 44674562 + Missense_Mutation SNP C C T TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr20:44674562C>T ENST00000243964.3 + 13 1713 c.1615C>T c.(1615-1617)Ctc>Ttc p.L539F SLC12A5_ENST00000454036.2_Missense_Mutation_p.L562F NM_020708.4 NP_065759.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 562 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CTGGGCCCTGCTCCTGACTGC 0.587 5 81 --- --- --- --- XPNPEP3 63929 broad.mit.edu 37 22 41318452 41318452 + Missense_Mutation SNP C C A TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr22:41318452C>A ENST00000357137.4 + 8 1255 c.1171C>A c.(1171-1173)Ctg>Atg p.L391M XPNPEP3_ENST00000544094.1_Missense_Mutation_p.L368M NM_022098.3 NP_071381.1 Q9NQH7 XPP3_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 3, putative 391 cellular process mitochondrion aminopeptidase activity|manganese ion binding|metallopeptidase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 17 GATGCTGACCCTGATAGGACA 0.453 5 209 --- --- --- --- C14orf79 122616 broad.mit.edu 37 14 105461072 105461072 + Frame_Shift_Del DEL A A - TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr14:105461072delA ENST00000549240.1 + 3 2036 c.228delA c.(226-228)acafs p.T76fs C14orf79_ENST00000549584.1_Intron|C14orf79_ENST00000550614.1_Frame_Shift_Del_p.T76fs|C14orf79_ENST00000547315.1_Frame_Shift_Del_p.T318fs Q96F83 CN079_HUMAN chromosome 14 open reading frame 79 318 breast(1)|endometrium(1)|lung(1) 3 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181) TCAAACTGACACTCTTTAATA 0.473 35 48 --- --- --- --- MYLK3 91807 broad.mit.edu 37 16 46772020 46772020 + Frame_Shift_Del DEL C C - TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chr16:46772020delC ENST00000394809.4 - 3 719 c.604delG c.(604-606)gagfs p.E202fs MYLK3_ENST00000536476.1_Intron NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 202 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GGCAGCCTCTCCGCTGTCCCC 0.637 9 16 --- --- --- --- ZMYM3 9203 broad.mit.edu 37 X 70470452 70470480 + Frame_Shift_Del DEL CCCGGCCCTTTGTGACACACTTGAGCGTA CCCGGCCCTTTGTGACACACTTGAGCGTA - TCGA-KK-A7AP-01A-12D-A33T-08 TCGA-KK-A7AP-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1c45a477-5a37-40de-a023-e282662b95d5 a1af817f-0d34-41c4-95e5-d61b174e3c6a g.chrX:70470452_70470480delCCCGGCCCTTTGTGACACACTTGAGCGTA ENST00000373998.1 - 5 1572_1600 c.875_903delTACGCTCAAGTGTGTCACAAAGGGCCGGG c.(874-903)ctacgctcaagtgtgtcacaaagggccgggfs p.LRSSVSQRAG292fs ZMYM3_ENST00000373982.1_Frame_Shift_Del_p.LRSSVSQRAG294fs|ZMYM3_ENST00000353904.2_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000373981.1_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.LRSSVSQRAG292fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.LRSSVSQRAG294fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.LRSSVSQRAG294fs NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 292 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) CTGCAGAGCGCCCGGCCCTTTGTGACACACTTGAGCGTAGGGACATGCG 0.581 2 4 --- --- --- ---