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 HEPACAM 220296 broad.mit.edu 37 11 124793256 124793256 + Silent SNP G G A TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr11:124793256G>A ENST00000298251.4 - 4 1188 c.783C>T c.(781-783)gcC>gcT p.A261A NM_152722.4 NP_689935.2 Q14CZ8 HECAM_HUMAN hepatic and glial cell adhesion molecule 261 cell adhesion|cell cycle arrest|regulation of growth cytoplasm|integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) GTTTCCAGCAGGCACAGACTG 0.483000 54 66 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179613495 179613495 + Silent SNP G G A rs146750710 by1000genomes TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr2:179613495G>A ENST00000360870.5 - 46 13854 c.13632C>T c.(13630-13632)gaC>gaT p.D4544D TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 676 Ig-like 25. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.D4544D(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCTTGTGCGTCAAATTCTT 0.328000 17 27 0 0 0.006122 0 0 MROH2B 133558 broad.mit.edu 37 5 41038885 41038885 + Missense_Mutation SNP G G C TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr5:41038885G>C ENST00000399564.4 - 21 2617 c.2167C>G c.(2167-2169)Caa>Gaa p.Q723E MROH2B_ENST00000506092.2_Missense_Mutation_p.Q278E NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B ATGATATCTTGATTAAGTCTG 0.483000 10 43 0 0 0.008291 0 0 UGT3A1 133688 broad.mit.edu 37 5 35965978 35965978 + Missense_Mutation SNP C C A TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr5:35965978C>A ENST00000274278.3 - 4 710 c.353G>T c.(352-354)gGg>gTg p.G118V UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Missense_Mutation_p.G84V|UGT3A1_ENST00000333811.4_Missense_Mutation_p.G64V|UGT3A1_ENST00000503189.1_Missense_Mutation_p.G118V NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 118 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACATTGAGTCCCAAATATTTC 0.294000 7 24 0.000157383 0.000284164 0.003080 1 0 MYO3A 53904 broad.mit.edu 37 10 26465754 26465754 + Missense_Mutation SNP C C T TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr10:26465754C>T ENST00000265944.5 + 31 4584 c.4418C>T c.(4417-4419)tCt>tTt p.S1473F MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1473 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 AGACGAGTTTCTTCTCAGCAG 0.378000 5 75 0 0 0.001984 0 0 VTRNA2-1 100126299 broad.mit.edu 37 5 135416237 135416237 + RNA SNP A A T TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr5:135416237A>T ENST00000602301.1 - 0 49 NR_030583.2 AGAGATGGACAGATAGAAAGT 0.478000 7 20 0 0 0.001984 0 0 IGHJ6 28475 broad.mit.edu 37 14 106329439 106329439 + RNA SNP C C A TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr14:106329439C>A ENST00000390560.2 - 0 29 TCCCTTTGCCCCAGACGTCCA 0.537000 3 10 0.004672 0.00820757 0.004672 1 0 MROH2B 133558 broad.mit.edu 37 5 41058209 41058209 + Silent SNP G G A TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr5:41058209G>A ENST00000399564.4 - 7 1162 c.712C>T c.(712-714)Ctg>Ttg p.L238L MROH2B_ENST00000506092.2_5'UTR NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TACTGGTTCAGGAGCCAGGGC 0.547000 14 29 0 0 0.028581 0 0 FMN2 56776 broad.mit.edu 37 1 240255958 240255958 + Silent SNP C C A TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr1:240255958C>A ENST00000319653.9 + 1 779 c.549C>A c.(547-549)atC>atA p.I183I NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 183 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) ACACGGACATCTATAGCTTCC 0.632000 25 43 8.16721e-17 1.56138e-16 0.010818 1 0 TAS2R9 50835 broad.mit.edu 37 12 10962013 10962013 + Missense_Mutation SNP T T C TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr12:10962013T>C ENST00000240691.2 - 1 754 c.662A>G c.(661-663)gAc>gGc p.D221G NM_023917.2 NP_076406.1 Q9NYW1 TA2R9_HUMAN taste receptor, type 2, member 9 221 sensory perception of taste integral to membrane taste receptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TGTACTGGGGTCTCTGAACCC 0.468000 25 27 0 0 0.024334 0 0 PTK7 5754 broad.mit.edu 37 6 43098054 43098054 + Missense_Mutation SNP C C T TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr6:43098054C>T ENST00000230419.4 + 4 778 c.557C>T c.(556-558)aCg>aTg p.T186M PTK7_ENST00000349241.2_Missense_Mutation_p.T186M|PTK7_ENST00000481273.1_Missense_Mutation_p.T194M|PTK7_ENST00000345201.2_Missense_Mutation_p.T186M|PTK7_ENST00000352931.2_Missense_Mutation_p.T186M|PTK7_ENST00000471863.1_Missense_Mutation_p.T186M NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 186 Ig-like C2-type 2. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) CGGAACCTGACGCTCCGGCCA 0.592000 20 34 0 0 0.010504 0 0 GMPPB 29925 broad.mit.edu 37 3 49759540 49759540 + Missense_Mutation SNP G G A TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr3:49759540G>A ENST00000480687.1 - 9 925 c.809C>T c.(808-810)cCc>cTc p.P270L AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308375.6_Missense_Mutation_p.P270L|GMPPB_ENST00000308388.6_Missense_Mutation_p.P270L Q9Y5P6 GMPPB_HUMAN GDP-mannose pyrophosphorylase B 270 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCTCACATTGGGGCCAATGCT 0.602000 19 38 0 0 0.012319 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 4 44 0 0 0.009096 0 0 AADACL4 343066 broad.mit.edu 37 1 12726393 12726393 + Missense_Mutation SNP C C A TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr1:12726393C>A ENST00000376221.1 + 4 871 c.871C>A c.(871-873)Ccc>Acc p.P291T NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 291 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) TGACAACATCCCCAAGAAATT 0.512000 33 60 7.65355e-07 1.42137e-06 0.012213 1 0 MROH2B 133558 broad.mit.edu 37 5 41039647 41039647 + Missense_Mutation SNP G G C TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr5:41039647G>C ENST00000399564.4 - 20 2414 c.1964C>G c.(1963-1965)tCt>tGt p.S655C MROH2B_ENST00000506092.2_Missense_Mutation_p.S210C NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TCCTAAAATAGATGTTATTCC 0.303000 3 14 0 0 0.004672 0 0 BRINP3 339479 broad.mit.edu 37 1 190067167 190067167 + Missense_Mutation SNP G G A TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr1:190067167G>A ENST00000367462.3 - 8 2513 c.2282C>T c.(2281-2283)aCg>aTg p.T761M FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.T659M NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 761 extracellular region p.T761R(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TAATTTGGTCGTGTCATAATC 0.398000 59 52 0 0 0.014410 0 0 GRK7 131890 broad.mit.edu 37 3 141497272 141497272 + Missense_Mutation SNP G G A TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr3:141497272G>A ENST00000264952.2 + 1 283 c.146G>A c.(145-147)cGc>cAc p.R49H NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 49 visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 GCGGAGCTCCGCCAGAAGCTG 0.682000 15 10 0 0 0.028581 0 0 MROH2B 133558 broad.mit.edu 37 5 41038949 41038949 + Silent SNP G G A TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr5:41038949G>A ENST00000399564.4 - 21 2553 c.2103C>T c.(2101-2103)gtC>gtT p.V701V MROH2B_ENST00000506092.2_Silent_p.V256V NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B AGATGACCATGACATCTGTCT 0.453000 9 46 0 0 0.008291 0 0 BAHCC1 57597 broad.mit.edu 37 17 79409032 79409032 + Silent SNP C C T TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr17:79409032C>T ENST00000307745.7 + 9 657 c.657C>T c.(655-657)ctC>ctT p.L219L ACCGCTTCCTCGTGGGCAAAG 0.706000 4 29 0 0 0.014758 0 0 AMACR 23600 broad.mit.edu 37 5 33989591 33989591 + Nonstop_Mutation SNP A A T TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr5:33989591A>T ENST00000382072.2 - 4 606 c.595T>A c.(595-597)Tga>Aga p.*199R AMACR_ENST00000382085.3_Silent_p.S252S|AMACR_ENST00000502637.1_Silent_p.S237S|AMACR_ENST00000335606.6_Silent_p.S252S|AMACR_ENST00000514195.1_5'UTR NM_203382.2 NP_976316.1 Q9UHK6 AMACR_HUMAN alpha-methylacyl-CoA racemase 0 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase mitochondrion|peroxisomal matrix alpha-methylacyl-CoA racemase activity endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 19 GAAGTTCATCAGACTTTAGTC 0.373000 7 16 0 0 0.004482 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160274753 160274753 + Silent SNP T T A TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr4:160274753T>A ENST00000264431.4 + 22 4142 c.3723T>A c.(3721-3723)gcT>gcA p.A1241A NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 1241 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) CACTTGATGCTGCTGACAGTG 0.537000 41 68 0 0 0.013114 0 0 ACBD3 64746 broad.mit.edu 37 1 226349297 226349297 + Missense_Mutation SNP C C G TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr1:226349297C>G ENST00000366812.5 - 4 717 c.663G>C c.(661-663)agG>agC p.R221S ACBD3_ENST00000464927.1_5'UTR NM_022735.3 NP_073572.2 Q9H3P7 GCP60_HUMAN acyl-CoA binding domain containing 3 221 Arg-rich.|Glu-rich. steroid biosynthetic process|transport Golgi membrane|integral to membrane|mitochondrion fatty-acyl-CoA binding|protein binding breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2) 20 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.121) cccgtcgaagcctttcctctt 0.463000 13 4 0 0 0.013537 0 0 PDGFC 56034 broad.mit.edu 37 4 157688986 157688986 + Missense_Mutation SNP C C G TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr4:157688986C>G ENST00000502773.1 - 5 1350 c.860G>C c.(859-861)tGt>tCt p.C287S PDGFC_ENST00000541126.1_Missense_Mutation_p.C124S|PDGFC_ENST00000542208.1_Missense_Mutation_p.C132S|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000422544.2_Intron NM_016205.2 NP_057289.1 Q9NRA1 PDGFC_HUMAN platelet derived growth factor C 287 central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212) ATTGTGGAGACAACAGGCACA 0.418000 21 33 0 0 0.012319 0 0 RYR2 6262 broad.mit.edu 37 1 237777500 237777500 + Missense_Mutation SNP A A G TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr1:237777500A>G ENST00000366574.2 + 37 5389 c.5072A>G c.(5071-5073)aAc>aGc p.N1691S RYR2_ENST00000360064.6_Missense_Mutation_p.N1689S|RYR2_ENST00000542537.1_Missense_Mutation_p.N1675S NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1691 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCCATTGAGAACAAGTACATG 0.562000 23 27 0 0 0.012319 0 0 MCF2L 23263 broad.mit.edu 37 13 113719307 113719307 + Missense_Mutation SNP G G A TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr13:113719307G>A ENST00000397030.1 + 7 800 c.763G>A c.(763-765)Ggg>Agg p.G255R MCF2L_ENST00000375597.4_Missense_Mutation_p.G220R|MCF2L_ENST00000421756.1_Missense_Mutation_p.G226R|MCF2L_ENST00000375608.3_Missense_Mutation_p.G252R|MCF2L_ENST00000434480.2_Missense_Mutation_p.G228R|MCF2L_ENST00000535094.2_Missense_Mutation_p.G222R|MCF2L_ENST00000423482.2_Missense_Mutation_p.G220R|MCF2L_ENST00000375604.2_Missense_Mutation_p.G279R|MCF2L_ENST00000375601.3_Missense_Mutation_p.G226R|MCF2L_ENST00000442652.2_Missense_Mutation_p.G252R O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 252 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) GCAGTCCTTCGGGACCGAGCT 0.552000 20 10 0 0 0.008871 0 0 CAB39L 81617 broad.mit.edu 37 13 49906228 49906228 + Splice_Site SNP T T C TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr13:49906228T>C ENST00000355854.4 - 8 1188 c.e8-2 CAB39L_ENST00000410043.1_Splice_Site|CAB39L_ENST00000409130.1_Splice_Site|CAB39L_ENST00000409308.1_Splice_Site|CAB39L_ENST00000347776.5_Splice_Site NM_030925.2 NP_112187.2 Q9H9S4 CB39L_HUMAN calcium binding protein 39-like cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol protein binding breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1) 12 Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226) CCCTAGCAGCTAGAGGAAAAC 0.428000 22 43 0 0 0.014323 0 0 MYO3A 53904 broad.mit.edu 37 10 26465722 26465722 + Silent SNP C C T TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr10:26465722C>T ENST00000265944.5 + 31 4552 c.4386C>T c.(4384-4386)gtC>gtT p.V1462V MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1462 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 ATCTGGGTGTCTCGCACCATA 0.368000 6 76 0 0 0.003080 0 0 NTRK1 4914 broad.mit.edu 37 1 156838323 156838323 + Frame_Shift_Del DEL C C - TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr1:156838323delC ENST00000368196.3 + 6 721 c.601delC c.(601-603)ccfs p.P201fs NTRK1_ENST00000358660.3_Frame_Shift_Del_p.P201fs|NTRK1_ENST00000392302.2_Frame_Shift_Del_p.P171fs|NTRK1_ENST00000524377.1_Frame_Shift_Del_p.P201fs NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 201 Ig-like C2-type 1. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) GGTCCAGGTGCCCAATGCCTC 0.692 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 2 4 --- --- --- --- PRSS50 29122 broad.mit.edu 37 3 46759228 46759229 + In_Frame_Ins INS - - AGC rs143449678 by1000genomes TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr3:46759228_46759229insAGC ENST00000460241.1 - 6 1756_1757 c.86_87insGCT c.(85-87)cct>cGCTct p.29_29P>RS PRSS50_ENST00000315170.7_In_Frame_Ins_p.29_29P>RS Q9UI38 TSP50_HUMAN protease, serine, 50 29 proteolysis endoplasmic reticulum serine-type endopeptidase activity|threonine-type endopeptidase activity p.L32_R33insL(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 TCAGCAACAGAAGCAGCAGCAG 0.728 4 4 --- --- --- --- ATXN1 6310 broad.mit.edu 37 6 16327864 16327865 + In_Frame_Ins INS - - TGC TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr6:16327864_16327865insTGC ENST00000244769.4 - 8 1613_1614 c.677_678insGCA c.(676-678)cct>cGCAct p.226_226P>RT ATXN1_ENST00000436367.1_In_Frame_Ins_p.226_226P>RT NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 226 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CCCTGCTGAGGtgctgctgctg 0.653 5 6 --- --- --- --- FAM74A3 728495 broad.mit.edu 37 9 40715923 40715924 + RNA DEL AA AA - rs62565543 TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr9:40715923_40715924delAA ENST00000604146.1 + 0 262_263 NR_026801.1 endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GAAGACGTGGAAAGAGCTCAGA 0.569 3 3 --- --- --- --- EVL 51466 broad.mit.edu 37 14 100594926 100594927 + Frame_Shift_Ins INS - - C rs150744633 TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr14:100594926_100594927insC ENST00000544450.2 + 6 853_854 c.570_571insC c.(568-573)ccccccfs p.PP190fs EVL_ENST00000392920.3_Frame_Shift_Ins_p.PP186fs|EVL_ENST00000402714.2_Frame_Shift_Ins_p.PP184fs Q9UI08 EVL_HUMAN Enah/Vasp-like 184 Pro-rich. actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis cytoskeleton|cytosol|focal adhesion|lamellipodium actin binding|profilin binding|SH3 domain binding p.P189fs*41(1) cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2) 14 Melanoma(154;0.152) GGcctccaccgccccccccacc 0.688 6 11 --- --- --- ---