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 CNOT3 4849 broad.mit.edu 37 19 54646887 54646887 + Missense_Mutation SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr19:54646887G>A ENST00000406403.1 + 2 1661 c.58G>A c.(58-60)Gag>Aag p.E20K CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.E20K O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 20 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding p.E20K(6) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GAAGGTGTCCGAGGGCGTGGA 0.557000 19 241 0 0 1 0 0 AKT1 207 broad.mit.edu 37 14 105246551 105246551 + Missense_Mutation SNP C C T rs34409589 TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr14:105246551C>T ENST00000554581.1 - 2 1529 c.49G>A c.(49-51)Gag>Aag p.E17K AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K P31749 AKT1_HUMAN v-akt murine thymoma viral oncogene homolog 1 17 PH. E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane). activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity p.E17K(102) NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) TTGATGTACTCCCCTACAGAC 0.612000 E17K(KU1919_URINARY_TRACT) 1 Mis """breast, colorectal, ovarian, NSCLC""" 7 19 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58299273 58299273 + Missense_Mutation SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr13:58299273C>T ENST00000377918.3 + 4 3351 c.3325C>T c.(3325-3327)Cgg>Tgg p.R1109W NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 1109 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding p.R1109W(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CAGAGCCAGCCGGGATTCCAG 0.522000 12 285 0 0 1 0 0 ETV3 2117 broad.mit.edu 37 1 157104014 157104014 + Missense_Mutation SNP T T C TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr1:157104014T>C ENST00000368192.4 - 4 354 c.290A>G c.(289-291)tAt>tGt p.Y97C ETV3_ENST00000326786.4_Missense_Mutation_p.Y97C NM_001145312.1 NP_001138784.1 P41162 ETV3_HUMAN ets variant 3 97 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.Y97C(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 9 Hepatocellular(266;0.158) Prostate(1639;0.174) CTTGTTGTAATAGTATCTGTA 0.368000 9 90 0 0 1 0 0 INTS9 55756 broad.mit.edu 37 8 28633369 28633369 + Silent SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr8:28633369G>A ENST00000416984.2 - 13 1766 c.1407C>T c.(1405-1407)atC>atT p.I469I INTS9_ENST00000521777.1_Silent_p.I466I|INTS9_ENST00000521022.1_Silent_p.I490I|INTS9_ENST00000397363.4_Silent_p.I384I NM_001145159.2 NP_001138631.1 Q9NV88 INT9_HUMAN integrator complex subunit 9 490 snRNA processing integrator complex protein binding p.I490I(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2) 19 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) GCTGGCAGTCGATCATGAGGT 0.612000 4 53 0 0 1 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798258 55798258 + Missense_Mutation SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr11:55798258C>T ENST00000313555.1 + 1 364 c.364C>T c.(364-366)Cgc>Tgc p.R122C NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 122 R -> L (in dbSNP:rs12224086). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R122C(3) endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) GGCTTATGACCGCTATGCAGC 0.458000 11 127 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125521376 125521376 + Splice_Site SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr2:125521376C>T ENST00000431078.1 + 15 2723 c.2359_splice c.e15+1 p.R787_splice NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 787 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding p.R787*(2) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) CTATGGTGACCGTGAGTACAA 0.458000 11 56 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 21596534 21596534 + Missense_Mutation SNP G G T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr11:21596534G>T ENST00000298925.5 + 21 2636 c.2483G>T c.(2482-2484)tGt>tTt p.C828F NELL1_ENST00000325319.5_Missense_Mutation_p.C743F|NELL1_ENST00000532434.1_Missense_Mutation_p.C753F|NELL1_ENST00000357134.5_Missense_Mutation_p.C800F|NELL1_ENST00000529218.1_3'UTR Q92832 NELL1_HUMAN NEL-like 1 (chicken) 800 cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity p.C800F(1) NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 AGAGTCTGTTGTTCTGTGGAT 0.358000 3 87 0.00024832 0.000268386 1 1 0 AFF2 2334 broad.mit.edu 37 X 148037365 148037365 + Missense_Mutation SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chrX:148037365G>A ENST00000370460.2 + 11 2269 c.1790G>A c.(1789-1791)cGt>cAt p.R597H AFF2_ENST00000342251.3_Missense_Mutation_p.R564H|AFF2_ENST00000370457.5_Missense_Mutation_p.R564H|AFF2_ENST00000286437.5_Missense_Mutation_p.R238H NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 597 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding p.R597H(3)|p.R238H(1) breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) GAGAAAGCCCGTCCACGGCCC 0.468000 27 113 0 0 1 0 0 NBEAL1 65065 broad.mit.edu 37 2 204039932 204039932 + Nonsense_Mutation SNP C C G TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr2:204039932C>G ENST00000449802.1 + 41 6632 c.6299C>G c.(6298-6300)tCa>tGa p.S2100* NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 2100 BEACH. binding p.S2100*(1)|p.S810*(1) NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 ACTCACTATTCAAATTCTGCG 0.383000 7 168 0 0 1 0 0 MST4 0 broad.mit.edu 37 X 131207114 131207114 + Missense_Mutation SNP T T A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chrX:131207114T>A ENST00000394334.2 + 11 1472 c.1219T>A c.(1219-1221)Ttt>Att p.F407I MST4_ENST00000354719.6_Missense_Mutation_p.F383I|MST4_ENST00000496850.1_Missense_Mutation_p.F345I|MST4_ENST00000394335.2_Missense_Mutation_p.F330I|MST4_ENST00000481105.1_Missense_Mutation_p.F429I NM_016542.3 NP_057626.2 Q9P289 MST4_HUMAN 407 cellular component disassembly involved in apoptosis|regulation of apoptosis cytosol|Golgi membrane ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity p.F407I(1) endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(192;0.000127) AATTGAAAAATTTCAAAAGTA 0.343000 3 66 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90382073 90382073 + Missense_Mutation SNP T T C TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr6:90382073T>C ENST00000369393.3 - 82 13755 c.13640A>G c.(13639-13641)gAg>gGg p.E4547G MDN1_ENST00000468568.1_5'UTR|MDN1_ENST00000428876.1_Missense_Mutation_p.E4547G Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 4547 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding p.E4547G(1) NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTGCAGTCTCTCAAAGCCTGC 0.398000 3 139 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76755287 76755287 + Missense_Mutation SNP C C A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr18:76755287C>A ENST00000536229.3 + 2 3390 c.2681C>A c.(2680-2682)gCg>gAg p.A894E SALL3_ENST00000575389.2_Missense_Mutation_p.A1027E|SALL3_ENST00000537592.2_Missense_Mutation_p.A1099E Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 1099 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A1099E(2) NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CCGGGCCTGGCGCCCATGCTG 0.736000 2 5 0.0016 0.001712 1 1 0 RAD21 5885 broad.mit.edu 37 8 117878924 117878924 + Silent SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr8:117878924G>A ENST00000297338.2 - 2 332 c.45C>T c.(43-45)gcC>gcT p.A15A RAD21_ENST00000523547.1_5'UTR NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 15 apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding p.A15A(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) GCCAAATTTTGGCCAGAGGCC 0.433000 3 85 0 0 1 0 0 KCNA3 3738 broad.mit.edu 37 1 111216034 111216034 + Silent SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr1:111216034G>A ENST00000369769.2 - 1 1621 c.1398C>T c.(1396-1398)atC>atT p.I466I NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 466 voltage-gated potassium channel complex delayed rectifier potassium channel activity p.I466I(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) AGACACCGGCGATGGCACAGA 0.527000 3 96 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15441443 15441443 + Nonstop_Mutation SNP A A G TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr17:15441443A>G ENST00000584811.1 - 7 1839 c.424T>C c.(424-426)Tga>Cga p.*142R TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000438826.3_Nonstop_Mutation_p.*206R|TVP23C_ENST00000428082.2_Nonstop_Mutation_p.*206R trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TTCTCTATTCAGGAAGTCTGA 0.418000 9 120 0 0 1 0 0 SLC10A2 6555 broad.mit.edu 37 13 103698541 103698541 + Missense_Mutation SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr13:103698541G>A ENST00000245312.3 - 6 1585 c.989C>T c.(988-990)aCg>aTg p.T330M NM_000452.2 NP_000443.1 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 330 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity p.T330M(1) breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CTCTGGCTCCGTTCCATTTTC 0.373000 4 106 0 0 1 0 0 DAZAP1 26528 broad.mit.edu 37 19 1418348 1418348 + Silent SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr19:1418348G>A ENST00000336761.6 + 3 421 c.216G>A c.(214-216)ccG>ccA p.P72P DAZAP1_ENST00000586579.1_3'UTR|DAZAP1_ENST00000233078.4_Silent_p.P72P NM_170711.1 NP_733829.1 Q96EP5 DAZP1_HUMAN DAZ associated protein 1 72 RRM 1. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCAGCAGACCGCACACGCTAG 0.522000 4 125 0 0 1 0 0 NKX3-1 4824 broad.mit.edu 37 8 23538928 23538928 + Missense_Mutation SNP A A G TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr8:23538928A>G ENST00000380871.4 - 2 548 c.511T>C c.(511-513)Tgg>Cgg p.W171R NKX3-1_ENST00000523261.1_Missense_Mutation_p.W96R NM_006167.3 NP_006158.2 Q99801 NKX31_HUMAN NK3 homeobox 1 171 negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter nucleus estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding p.W171R(1) large_intestine(3)|lung(4)|prostate(5)|skin(2) 14 Prostate(55;0.114) Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708) TTCTGGAACCATATCTTCACT 0.562000 15 248 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 6 81 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179640233 179640233 + Missense_Mutation SNP G G A rs116158152 by1000genomes TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr2:179640233G>A ENST00000589042.1 - 28 6582 c.6358C>T c.(6358-6360)Cgg>Tgg p.R2120W TTN_ENST00000460472.2_Missense_Mutation_p.R2074W|TTN_ENST00000342175.6_Missense_Mutation_p.R2074W|TTN_ENST00000342992.6_Missense_Mutation_p.R2120W|TTN_ENST00000359218.5_Missense_Mutation_p.R2074W|TTN_ENST00000360870.5_Missense_Mutation_p.R2120W|TTN_ENST00000591111.1_Missense_Mutation_p.R2120W NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1883 Ig-like 10. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R2074W(7)|p.R2120W(5) 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) CGGTCAGACCGTTCAATTTTG 0.493000 9 108 0 0 1 0 0 PCDHA11 0 broad.mit.edu 37 5 140250899 140250899 + Silent SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr5:140250899G>A ENST00000398640.2 + 1 2211 c.2211G>A c.(2209-2211)acG>acA p.T737T PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron NM_018902.3 NP_061725.1 p.T737T(1) breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAAGCCCACGCTGGTGTGCT 0.687000 4 29 0 0 1 0 0 PCDHGA10 0 broad.mit.edu 37 5 140794640 140794640 + Missense_Mutation SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr5:140794640C>T ENST00000398610.2 + 1 1898 c.1898C>T c.(1897-1899)gCg>gTg p.A633V PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 p.A633V(1) breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGCGCACGGCGCGAGCCCTG 0.692000 29 59 0 0 1 0 0 IL17RC 84818 broad.mit.edu 37 3 9969889 9969889 + Missense_Mutation SNP T T A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr3:9969889T>A ENST00000295981.3 + 10 1293 c.1075T>A c.(1075-1077)Tgc>Agc p.C359S IL17RC_ENST00000403601.3_Missense_Mutation_p.C288S|IL17RC_ENST00000413608.1_Missense_Mutation_p.C288S|IL17RC_ENST00000455057.1_Missense_Mutation_p.C273S|IL17RC_ENST00000416074.2_Missense_Mutation_p.C144S|IL17RC_ENST00000383812.4_Missense_Mutation_p.C273S|IL17RC_ENST00000498214.1_3'UTR NM_153461.3 NP_703191.1 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C 359 integral to membrane|plasma membrane receptor activity p.C359S(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GACGAACATCTGCCCCTTCAG 0.637000 12 166 0 0 1 0 0 RBMS2 5939 broad.mit.edu 37 12 56963707 56963707 + Missense_Mutation SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr12:56963707G>A ENST00000262031.5 + 4 412 c.317G>A c.(316-318)aGc>aAc p.S106N RBMS2_ENST00000552247.2_Missense_Mutation_p.S106N|RBMS2_ENST00000542360.1_5'UTR|RBMS2_ENST00000549945.1_3'UTR|RBMS2_ENST00000550726.1_5'UTR NM_002898.3 NP_002889.1 Q15434 RBMS2_HUMAN RNA binding motif, single stranded interacting protein 2 106 RRM 1. RNA processing nucleus nucleotide binding|RNA binding p.S106N(1) breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1) 18 GATTTTGACAGCCCTTCAGCA 0.512000 3 139 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9070399 9070399 + Missense_Mutation SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr19:9070399C>T ENST00000397910.4 - 3 17250 c.17047G>A c.(17047-17049)Gta>Ata p.V5683I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5685 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.V5683I(2)|p.V1316I(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAACTCGTTACGGGCTCTGGG 0.512000 7 73 0 0 1 0 0 KIAA0895 23366 broad.mit.edu 37 7 36423479 36423479 + Missense_Mutation SNP A A G TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr7:36423479A>G ENST00000297063.6 - 2 217 c.167T>C c.(166-168)tTc>tCc p.F56S NM_001100425.1 NP_001093895.1 Q8NCT3 K0895_HUMAN KIAA0895 56 p.F56S(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 TGAGGTAGAGAACTTGAGTTT 0.358000 6 78 0 0 1 0 0 PUM2 23369 broad.mit.edu 37 2 20458017 20458017 + Missense_Mutation SNP G G T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr2:20458017G>T ENST00000361078.2 - 15 2493 c.2471C>A c.(2470-2472)tCt>tAt p.S824Y PUM2_ENST00000403432.1_Missense_Mutation_p.S824Y|PUM2_ENST00000319801.5_Missense_Mutation_p.S745Y|PUM2_ENST00000338086.5_Missense_Mutation_p.S824Y|PUM2_ENST00000536417.1_Missense_Mutation_p.S768Y Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 824 PUM-HD. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding p.S824Y(1) breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGGTCAGAAGAAATAGATTC 0.328000 20 57 5.03518e-11 5.55427e-11 1 1 0 CAMTA1 23261 broad.mit.edu 37 1 7700505 7700505 + Missense_Mutation SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr1:7700505G>A ENST00000303635.7 + 7 763 c.556G>A c.(556-558)Gag>Aag p.E186K CAMTA1_ENST00000439411.2_Missense_Mutation_p.E186K NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding p.E186K(2) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GCCGGCCATCGAGGACTGCGG 0.612000 T WWTR1 epitheliod hemangioendothelioma 4 82 0 0 1 0 0 LHX3 8022 broad.mit.edu 37 9 139090531 139090531 + Missense_Mutation SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr9:139090531C>T ENST00000371746.3 - 5 875 c.757G>A c.(757-759)Ggg>Agg p.G253R LHX3_ENST00000371748.5_Missense_Mutation_p.G248R NM_014564.3 NP_055379.1 Q9UBR4 LHX3_HUMAN LIM homeobox 3 248 inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G253R(1) large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 8 Myeloproliferative disorder(178;0.0511) Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07) CTGTCCTGCCCCTCCTGAACG 0.711000 9 15 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25931720 25931720 + Missense_Mutation SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr17:25931720C>T ENST00000398988.3 + 15 1680 c.1235C>T c.(1234-1236)cCg>cTg p.P412L KSR1_ENST00000319524.6_Missense_Mutation_p.P549L|KSR1_ENST00000268763.6_Missense_Mutation_p.P412L|KSR1_ENST00000581975.1_3'UTR|KSR1_ENST00000509603.2_Missense_Mutation_p.P527L NM_014238.1 NP_055053.1 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 547 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.P527L(1)|p.P549L(1) 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) GATGACCAGCCGAAAGCAGAT 0.552000 14 81 0 0 1 0 0 CNGA2 1260 broad.mit.edu 37 X 150911712 150911712 + Missense_Mutation SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chrX:150911712G>A ENST00000329903.4 + 6 770 c.737G>A c.(736-738)cGc>cAc p.R246H NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 246 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity p.R246H(1) breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) CCTGAGGTGCGCTTCAACCGC 0.532000 4 87 0 0 1 0 0 B4GALNT1 2583 broad.mit.edu 37 12 58022636 58022636 + Missense_Mutation SNP G G T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr12:58022636G>T ENST00000341156.4 - 8 1446 c.862C>A c.(862-864)Cgt>Agt p.R288S B4GALNT1_ENST00000418555.2_Missense_Mutation_p.R233S|B4GALNT1_ENST00000449184.3_Missense_Mutation_p.R255S NM_001478.3 NP_001469.1 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 288 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity p.R288S(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) CGATCATAACGGAGGAAGGTC 0.582000 3 69 1 1 1 1 0 RBFOX1 54715 broad.mit.edu 37 16 7568237 7568237 + Missense_Mutation SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr16:7568237C>T ENST00000340209.4 + 2 428 c.131C>T c.(130-132)gCg>gTg p.A44V RBFOX1_ENST00000553186.1_Missense_Mutation_p.A39V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A75V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A82V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A59V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A59V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A75V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A82V|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A39V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A59V|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A39V Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 39 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding p.A59V(2) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 GGTATCCCCGCGGAATACACG 0.612000 22 199 0 0 1 0 0 KLHL7 55975 broad.mit.edu 37 7 23164685 23164685 + Missense_Mutation SNP C C G TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr7:23164685C>G ENST00000322231.7 + 5 760 c.270C>G c.(268-270)aaC>aaG p.N90K KLHL7_ENST00000409689.1_Missense_Mutation_p.N64K|KLHL7_ENST00000545771.1_Missense_Mutation_p.N90K|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000339077.4_Missense_Mutation_p.N112K|KLHL7_ENST00000322275.5_Missense_Mutation_p.N112K|KLHL7_ENST00000545443.1_Missense_Mutation_p.N90K|KLHL7_ENST00000410047.1_Missense_Mutation_p.N90K|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000539124.1_Missense_Mutation_p.N36K Q8IXQ5 KLHL7_HUMAN kelch-like family member 7 112 BTB. Golgi apparatus|nucleolus|plasma membrane p.N90K(1)|p.N112K(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TGAATAGCAACAATGTTCAGT 0.328000 8 97 0 0 1 0 0 PXN 5829 broad.mit.edu 37 12 120657110 120657110 + Translation_Start_Site SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr12:120657110G>A ENST00000397506.3 - 0 71 PXN_ENST00000536957.1_Intron|PXN_ENST00000458477.2_Intron|PXN_ENST00000228307.7_Intron|PXN_ENST00000538144.1_Intron|PXN_ENST00000424649.2_Intron|PXN_ENST00000267257.7_Intron P49023 PAXI_HUMAN paxillin cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly cytoplasm|focal adhesion|lamellipodium|microtubule associated complex beta-catenin binding|vinculin binding|zinc ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGCAGCTTCCGTGGTGCCCTC 0.622000 4 121 0 0 1 0 0 ANKRD55 79722 broad.mit.edu 37 5 55472069 55472069 + Silent SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr5:55472069C>T ENST00000341048.4 - 4 373 c.222G>A c.(220-222)gcG>gcA p.A74A ANKRD55_ENST00000513241.2_Silent_p.A45A|ANKRD55_ENST00000504958.2_Silent_p.A74A NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 73 p.A74A(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) TCACTGTGTCCGCTTGACGTC 0.493000 5 206 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 3 19 0.115264 0.11746 1 1 0 MORC1 27136 broad.mit.edu 37 3 108818255 108818255 + Missense_Mutation SNP T T C TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr3:108818255T>C ENST00000232603.5 - 6 455 c.373A>G c.(373-375)Acc>Gcc p.T125A MORC1_ENST00000483760.1_Missense_Mutation_p.T125A NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 125 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding p.T125A(1) breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 AACACACAGGTCATCGTTTCT 0.343000 12 115 0 0 1 0 0 SEC23B 10483 broad.mit.edu 37 20 18505662 18505662 + Silent SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr20:18505662C>T ENST00000336714.3 + 6 1119 c.687C>T c.(685-687)agC>agT p.S229S SEC23B_ENST00000377475.3_Silent_p.S229S|SEC23B_ENST00000377465.1_Silent_p.S229S|SEC23B_ENST00000262544.2_Silent_p.S229S NM_006363.4|NM_032985.4|NM_032986.3 NP_006354.2|NP_116780.1|NP_116781.1 Q15437 SC23B_HUMAN Sec23 homolog B (S. cerevisiae) 229 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding p.S229S(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 32 TTGCTTCAAGCAGGTGAGAGC 0.443000 3 49 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 4 124 0 0 1 0 0 CCT6P3 0 broad.mit.edu 37 7 64530103 64530103 + RNA SNP G G A rs137873032 by1000genomes TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr7:64530103G>A ENST00000426828.1 + 0 923 NR_033416.1 TGACTGCTTGGGACATGCAGG 0.388000 3 90 0 0 1 0 0 HSPB3 8988 broad.mit.edu 37 5 53752034 53752034 + Silent SNP T T C TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr5:53752034T>C ENST00000302005.1 + 1 590 c.415T>C c.(415-417)Ttg>Ctg p.L139L NM_006308.2 NP_006299.1 Q12988 HSPB3_HUMAN heat shock 27kDa protein 3 139 cell death|response to heat|response to unfolded protein cytoplasm|nucleus p.L139L(2) breast(1)|large_intestine(4)|prostate(3) 8 Lung NSC(810;0.00104) TGATGGAATTTTGGTGGTGGA 0.458000 5 204 0 0 1 0 0 AKR1A1 10327 broad.mit.edu 37 1 46034256 46034256 + Missense_Mutation SNP C C G TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr1:46034256C>G ENST00000372070.3 + 7 1399 c.652C>G c.(652-654)Cgt>Ggt p.R218G AKR1A1_ENST00000351829.4_Missense_Mutation_p.R218G NM_001202413.1|NM_001202414.1|NM_006066.3 NP_001189342.1|NP_001189343.1|NP_006057.1 P14550 AK1A1_HUMAN aldo-keto reductase family 1, member A1 (aldehyde reductase) 218 glucose metabolic process alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding p.R218G(1) lung(3)|prostate(1)|urinary_tract(1) 5 Acute lymphoblastic leukemia(166;0.155) CTCCTCTGATCGTGCATGGCG 0.542000 10 118 0 0 1 0 0 ATMIN 23300 broad.mit.edu 37 16 81078505 81078505 + Missense_Mutation SNP C C G TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr16:81078505C>G ENST00000566488.1 + 3 2897 c.1934C>G c.(1933-1935)aCg>aGg p.T645R ATMIN_ENST00000299575.4_Missense_Mutation_p.T801R|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.T645R O43313 ATMIN_HUMAN ATM interactor 801 response to DNA damage stimulus nucleus zinc ion binding p.T801R(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 GCCTGGAACACGATGGAGTCT 0.488000 5 136 0 0 1 0 0 CCDC105 126402 broad.mit.edu 37 19 15132481 15132481 + Silent SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr19:15132481G>A ENST00000292574.3 + 5 1177 c.1095G>A c.(1093-1095)acG>acA p.T365T NM_173482.2 NP_775753.2 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 365 microtubule cytoskeleton organization microtubule p.T365T(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 TCCGGTGTACGAAATATAACC 0.592000 9 63 0 0 1 0 0 RPL8 6132 broad.mit.edu 37 8 146017507 146017507 + Missense_Mutation SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr8:146017507C>T ENST00000262584.3 - 2 240 c.8G>A c.(7-9)cGt>cAt p.R3H RPL8_ENST00000527914.1_Missense_Mutation_p.R3H|RPL8_ENST00000394920.2_Missense_Mutation_p.R3H|RPL8_ENST00000529163.1_Intron|RPL8_ENST00000528957.1_Missense_Mutation_p.R3H NM_000973.3 NP_000964.1 P62917 RL8_HUMAN ribosomal protein L8 3 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit rRNA binding|structural constituent of ribosome p.R3H(1) kidney(12)|lung(7)|prostate(1) 20 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.191) ACGGATCACACGGCCCATGGC 0.736000 3 23 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85410592 85410592 + Nonsense_Mutation SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr15:85410592C>T ENST00000258888.5 + 13 5541 c.5374C>T c.(5374-5376)Cga>Tga p.R1792* NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1792 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity p.R1792*(2) NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) TACCAAACTCCGAGGGTGAGT 0.542000 5 82 0 0 1 0 0 PACSIN2 11252 broad.mit.edu 37 22 43289513 43289513 + Missense_Mutation SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr22:43289513G>A ENST00000263246.3 - 3 368 c.167C>T c.(166-168)gCg>gTg p.A56V PACSIN2_ENST00000337959.4_Missense_Mutation_p.A56V|PACSIN2_ENST00000407585.1_Missense_Mutation_p.A56V|PACSIN2_ENST00000403744.3_Missense_Mutation_p.A56V|PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000402229.1_Missense_Mutation_p.A56V NM_001184970.1 NP_001171899.1 Q9UNF0 PACN2_HUMAN protein kinase C and casein kinase substrate in neurons 2 56 FCH. actin cytoskeleton organization|endocytosis cytoplasmic membrane-bounded vesicle transporter activity p.A56V(1) NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1) 19 Glioma(61;0.222) GAGCTGCTGCGCATACGCCTT 0.652000 7 63 0 0 1 0 0 C7orf63 79846 broad.mit.edu 37 7 89912266 89912266 + Missense_Mutation SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr7:89912266C>T ENST00000389297.4 + 13 1684 c.1433C>T c.(1432-1434)gCc>gTc p.A478V C7orf63_ENST00000497910.1_Missense_Mutation_p.A460V|C7orf63_ENST00000316089.8_Missense_Mutation_p.A478V NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN chromosome 7 open reading frame 63 478 binding p.A478V(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 AACAAGTTTGCCCAGATGCGT 0.398000 3 94 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19503127 19503127 + Missense_Mutation SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr5:19503127G>A ENST00000507958.1 - 13 2594 c.1604C>T c.(1603-1605)cCa>cTa p.P535L CDH18_ENST00000506372.1_Missense_Mutation_p.P535L|CDH18_ENST00000511273.1_Missense_Mutation_p.P535L|CDH18_ENST00000382275.1_Missense_Mutation_p.P535L|CDH18_ENST00000502796.1_Missense_Mutation_p.P535L|CDH18_ENST00000274170.4_Missense_Mutation_p.P535L Q13634 CAD18_HUMAN cadherin 18, type 2 535 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P535L(2) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) AGTGAAGTTTGGATTTACAGG 0.348000 13 121 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885073 88885073 + Missense_Mutation SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr8:88885073C>T ENST00000319675.3 - 1 1223 c.1127G>A c.(1126-1128)cGa>cAa p.R376Q NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 376 p.R376Q(1) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 TGGTGCTCCTCGGAAGCCCCC 0.582000 44 57 0 0 1 0 0 GPR157 80045 broad.mit.edu 37 1 9171452 9171452 + Silent SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr1:9171452G>A ENST00000377411.4 - 2 622 c.480C>T c.(478-480)gaC>gaT p.D160D GPR157_ENST00000414642.2_Silent_p.D160D NM_024980.4 NP_079256.4 Q5UAW9 GP157_HUMAN G protein-coupled receptor 157 160 integral to membrane|plasma membrane G-protein coupled receptor activity p.D160D(1) lung(4)|prostate(1) 5 all_lung(157;0.185) all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642) TGGCCTCCAGGTCGATCCAGC 0.617000 OREG0013073 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 68 0 0 1 0 0 RP11-1166P10.8 0 broad.mit.edu 37 16 32163607 32163607 + RNA SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr16:32163607G>A ENST00000564145.1 - 0 65 AGCCAGGACCGCCATGAGGCC 0.602000 4 7 0 0 1 0 0 FCN1 2219 broad.mit.edu 37 9 137803057 137803057 + Missense_Mutation SNP T T C TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr9:137803057T>C ENST00000371806.3 - 8 746 c.655A>G c.(655-657)Aag>Gag p.K219E NM_002003.3 NP_001994.2 O00602 FCN1_HUMAN ficolin (collagen/fibrinogen domain containing) 1 219 Fibrinogen C-terminal. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding p.K219E(1) endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) GATTTGTACTTAGCAAACTGG 0.527000 10 434 0 0 1 0 0 DKK2 27123 broad.mit.edu 37 4 107845202 107845202 + Missense_Mutation SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr4:107845202C>T ENST00000285311.3 - 4 1394 c.689G>A c.(688-690)cGt>cAt p.R230H DKK2_ENST00000513208.1_Missense_Mutation_p.R130H|DKK2_ENST00000510463.1_Missense_Mutation_p.R184H NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 230 DKK-type Cys-2. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space p.R230H(3) autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) ACAGTCGCAACGCTGGAAAAT 0.488000 26 270 0 0 1 0 0 NUTM1 256646 broad.mit.edu 37 15 34649647 34649647 + Silent SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr15:34649647C>T ENST00000537011.1 + 8 3820 c.3438C>T c.(3436-3438)gaC>gaT p.D1146D NUTM1_ENST00000333756.4_Silent_p.D1118D|NUTM1_ENST00000438749.3_Silent_p.D1136D NUT midline carcinoma, family member 1 p.D1118D(1) GGCGGTGTGACAGTTTTGTCA 0.582000 65 87 0 0 1 0 0 PCDHB12 0 broad.mit.edu 37 5 140588556 140588556 + Missense_Mutation SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr5:140588556C>T ENST00000239450.2 + 1 266 c.77C>T c.(76-78)gCg>gTg p.A26V PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 26 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.A26V(2) NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATGTCTCAGGCGGGCTCTGAA 0.498000 4 142 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83411185 83411185 + Silent SNP A A T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chrX:83411185A>T ENST00000262752.2 - 3 163 c.156T>A c.(154-156)gtT>gtA p.V52V RPS6KA6_ENST00000543399.1_Silent_p.V52V NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 52 axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.V52V(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 GGATTTCTTTAACAACTCCTT 0.353000 5 39 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47345221 47345221 + Splice_Site SNP G G C TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr11:47345221G>C ENST00000342922.4 + 28 4557 c.e28-1 MADD_ENST00000406482.1_Splice_Site|MADD_ENST00000405573.2_Splice_Site|MADD_ENST00000402799.1_Splice_Site|MADD_ENST00000402192.2_Splice_Site|MADD_ENST00000395336.3_Splice_Site|MADD_ENST00000395344.3_Splice_Site|MADD_ENST00000407859.3_Splice_Site|MADD_ENST00000349238.3_Splice_Site|MADD_ENST00000311027.5_Splice_Site NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity p.?(2) breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) CACTTCTCCAGGTGTGCGATG 0.542000 3 97 0 0 1 0 0 DUSP13 0 broad.mit.edu 37 10 76854507 76854507 + Missense_Mutation SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr10:76854507C>T ENST00000491677.2 - 8 1453 c.911G>A c.(910-912)tGc>tAc p.C304Y DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000372700.3_Missense_Mutation_p.C225Y|DUSP13_ENST00000605915.1_Missense_Mutation_p.C197Y|DUSP13_ENST00000607131.1_Missense_Mutation_p.C268Y|DUSP13_ENST00000464872.1_Missense_Mutation_p.C124Y|DUSP13_ENST00000478873.2_Missense_Mutation_p.C311Y|DUSP13_ENST00000472493.2_Missense_Mutation_p.C175Y NM_001007271.1 NP_001007272.1 Q6B8I1 MDSP_HUMAN dual specificity phosphatase 13 166 cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.C175Y(2)|p.C304Y(1) large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 8 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) TGAGTTAGGGCAGATATTGCG 0.617000 11 31 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96521777 96521777 + Missense_Mutation SNP T T C rs77768218 TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr2:96521777T>C ENST00000456556.1 - 63 4316 c.4232A>G c.(4231-4233)cAt>cGt p.H1411R ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R ankyrin repeat domain 36C p.H662R(6)|p.H1411R(3) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 AAGGTCTTCATGCTTTCTTTT 0.383000 3 49 0 0 1 0 0 WDR64 128025 broad.mit.edu 37 1 241946665 241946665 + Missense_Mutation SNP C C G TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr1:241946665C>G ENST00000366552.2 + 22 2864 c.2657C>G c.(2656-2658)tCc>tGc p.S886C WDR64_ENST00000437684.2_Missense_Mutation_p.S719C NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 886 p.S886C(1)|p.S439C(1) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) CTTACTGCCTCCATCGATGGC 0.393000 4 82 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94436522 94436522 + Missense_Mutation SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr4:94436522C>T ENST00000282020.4 + 13 2411 c.2153C>T c.(2152-2154)tCg>tTg p.S718L GRID2_ENST00000510992.1_Missense_Mutation_p.S623L NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 718 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity p.S718L(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) AGCAATGGATCGGAGAACAAT 0.468000 4 122 0 0 1 0 0 ALDH1A3 220 broad.mit.edu 37 15 101425511 101425511 + Missense_Mutation SNP A A G TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr15:101425511A>G ENST00000329841.5 + 2 671 c.139A>G c.(139-141)Aaa>Gaa p.K47E ALDH1A3_ENST00000560555.1_3'UTR|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.K47E NM_000693.2 NP_000684.2 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1 family, member A3 47 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity p.K47E(2) NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 27 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) NADH(DB00157)|Vitamin A(DB00162) CAAGAGTGGGAAAAAGTTTGC 0.333000 33 88 0 0 1 0 0 CALB2 794 broad.mit.edu 37 16 71419500 71419500 + Missense_Mutation SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr16:71419500C>T ENST00000349553.5 + 8 634 c.554C>T c.(553-555)aCg>aTg p.T185M CALB2_ENST00000302628.4_Silent_p.D216D NM_007088.3 NP_009019.1 P22676 CALB2_HUMAN calbindin 2 0 EF-hand 4. calcium ion binding p.D216D(2) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(137;0.125) GCTACATTGACGAGCATGAGC 0.567000 11 32 0 0 1 0 0 FNDC3A 22862 broad.mit.edu 37 13 49776084 49776084 + Missense_Mutation SNP G G T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr13:49776084G>T ENST00000492622.2 + 24 3441 c.3136G>T c.(3136-3138)Gtc>Ttc p.V1046F FNDC3A_ENST00000541916.1_Missense_Mutation_p.V1046F|FNDC3A_ENST00000398316.3_Missense_Mutation_p.V990F NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 1046 Golgi membrane|integral to membrane p.V1046F(1) endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) TCCAAAATCTGTCCCAGCTGC 0.318000 7 167 0.0381472 0.0396287 1 1 0 TNXB 7148 broad.mit.edu 37 6 32021196 32021196 + Silent SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr6:32021196G>A ENST00000375244.3 - 25 8961 c.8760C>T c.(8758-8760)cgC>cgT p.R2920R TNXB_ENST00000375247.2_Silent_p.R2918R P22105 TENX_HUMAN tenascin XB 2967 Fibronectin type-III 21. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding p.R2996R(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TGGGGCCCACGCGCTGGCCAC 0.632000 5 15 0 0 1 0 0 ZNF43 7594 broad.mit.edu 37 19 21990989 21990989 + Missense_Mutation SNP G G C rs150351501 TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr19:21990989G>C ENST00000594012.1 - 7 2346 c.1832C>G c.(1831-1833)aCt>aGt p.T611S ZNF43_ENST00000354959.4_Missense_Mutation_p.T617S|ZNF43_ENST00000598381.1_Missense_Mutation_p.T611S|ZNF43_ENST00000595461.1_Missense_Mutation_p.T611S NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 617 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T617S(1) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) TTTTCCTCCAGTATGAATTTT 0.343000 8 116 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59113436 59113436 + Missense_Mutation SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr14:59113436C>T ENST00000395153.3 + 4 2131 c.1984C>T c.(1984-1986)Cgg>Tgg p.R662W DACT1_ENST00000335867.4_Missense_Mutation_p.R699W|DACT1_ENST00000395151.3_Missense_Mutation_p.R418W|DACT1_ENST00000556859.1_Missense_Mutation_p.R418W|DACT1_ENST00000541264.2_Missense_Mutation_p.R418W NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 699 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus p.R699W(1) endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 GCGCGGTCGCCGGGAGAATGT 0.667000 3 53 0 0 1 0 0 MB21D2 151963 broad.mit.edu 37 3 192517393 192517393 + Nonsense_Mutation SNP G G T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr3:192517393G>T ENST00000392452.2 - 2 578 c.258C>A c.(256-258)taC>taA p.Y86* NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 86 p.Y84*(1)|p.Y86*(1) endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 AGAGCAACAGGTATTCATTAG 0.453000 9 59 0.0692343 0.0712315 1 1 0 TCEB3 6924 broad.mit.edu 37 1 24080617 24080617 + Missense_Mutation SNP A A C rs144826294 byFrequency TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr1:24080617A>C ENST00000418390.2 + 6 1914 c.1643A>C c.(1642-1644)gAa>gCa p.E548A NM_003198.2 NP_003189.2 Q14241 ELOA1_HUMAN transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) 548 Activation domain (By similarity). positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding p.E522A(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) GAAGAAGAAGAAGCTGGATTT 0.478000 5 189 0 0 1 0 0 CXXC11 285093 broad.mit.edu 37 2 242814653 242814653 + Missense_Mutation SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr2:242814653G>A ENST00000343216.3 + 2 974 c.946G>A c.(946-948)Gtc>Atc p.V316I NM_173821.2 NP_776182.2 Q14D33 CB085_HUMAN CXXC finger protein 11 316 integral to membrane p.V316I(1) CAATGGCCTCGTCCCTGTGGG 0.657000 6 78 0 0 1 0 0 STPG1 90529 broad.mit.edu 37 1 24706307 24706307 + Missense_Mutation SNP G G C TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr1:24706307G>C ENST00000374409.1 - 5 552 c.298C>G c.(298-300)Cga>Gga p.R100G STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000440416.1_Missense_Mutation_p.R53G|STPG1_ENST00000003583.8_Missense_Mutation_p.R53G|STPG1_ENST00000337248.4_Missense_Mutation_p.R100G NM_001199012.1 NP_001185941.1 sperm-tail PG-rich repeat containing 1 p.R53G(1) GTGTCCAATCGGGCGCACTGT 0.423000 6 89 0 0 1 0 0 MT-ND4 4538 broad.mit.edu 37 MT 11775 11775 + Missense_Mutation SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chrM:11775G>A ENST00000361381.2 + 1 1016 c.1016G>A c.(1015-1017)aGt>aAt p.339_339insN mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 ACGCACTCACAGTCGCATCAT 0.493000 3 5 0 0 1 0 0 KRTAP19-5 337972 broad.mit.edu 37 21 31874243 31874243 + Missense_Mutation SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr21:31874243G>A ENST00000334151.2 - 1 192 c.166C>T c.(166-168)Cgc>Tgc p.R56C NM_181611.1 NP_853642.1 Q3LI72 KR195_HUMAN keratin associated protein 19-5 56 intermediate filament protein binding p.R56C(1) endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1) 12 CGGCAGCTGCGGTATCCATAG 0.532000 4 91 0 0 1 0 0 ARSE 415 broad.mit.edu 37 X 2867523 2867523 + Missense_Mutation SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chrX:2867523G>A ENST00000545496.1 - 7 1042 c.751C>T c.(751-753)Ccg>Tcg p.P251S ARSE_ENST00000540563.1_Missense_Mutation_p.P181S|ARSE_ENST00000381134.3_Missense_Mutation_p.P226S P51690 ARSE_HUMAN arylsulfatase E (chondrodysplasia punctata 1) 226 skeletal system development Golgi stack arylsulfatase activity|metal ion binding p.P226S(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CAGATGACCGGCATCCACGAG 0.542000 3 47 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238277502 238277502 + Missense_Mutation SNP C C T rs115765346 by1000genomes TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr2:238277502C>T ENST00000295550.4 - 10 5056 c.4604G>A c.(4603-4605)cGc>cAc p.R1535H COL6A3_ENST00000346358.4_Missense_Mutation_p.R1335H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1329H|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1334H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1329H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R928H NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1535 Nonhelical region.|VWFA 8. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity p.R1535H(1) breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GTCTTCTATGCGACTCCCCGC 0.592000 4 184 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24889811 24889811 + Missense_Mutation SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr10:24889811G>A ENST00000396432.2 - 14 3382 c.2896C>T c.(2896-2898)Cgg>Tgg p.R966W ARHGAP21_ENST00000493154.1_Intron|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R753W NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 965 Interaction with ARF1 and ARF6.|PH. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding p.R966W(1)|p.R965W(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 GAATGACCCCGAAGGACAACA 0.423000 14 146 0 0 1 0 0 MSLNL 401827 broad.mit.edu 37 16 830489 830489 + Missense_Mutation SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr16:830489C>T ENST00000293892.3 - 3 511 c.512G>A c.(511-513)cGc>cAc p.R171H MSLNL_ENST00000442466.1_Intron Q96KJ4 MSLNL_HUMAN mesothelin-like 0 cell adhesion integral to membrane p.R171H(1) breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 TGGATGCGTGCGGGCACGCAT 0.552000 13 156 0 0 1 0 0 AIFM3 150209 broad.mit.edu 37 22 21330001 21330001 + Missense_Mutation SNP G G T rs143272206 TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr22:21330001G>T ENST00000399167.2 + 9 981 c.741G>T c.(739-741)gaG>gaT p.E247D AIFM3_ENST00000440238.2_Missense_Mutation_p.E247D|AIFM3_ENST00000333607.6_Missense_Mutation_p.E247D|AIFM3_ENST00000335375.5_Missense_Mutation_p.E235D|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000399163.2_Missense_Mutation_p.E247D|AIFM3_ENST00000405089.1_Missense_Mutation_p.E253D NM_144704.2 NP_653305.1 apoptosis-inducing factor, mitochondrion-associated, 3 p.E247D(1) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 21 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CACAGCCTGAGCAGCTGGCCC 0.632000 11 129 0.000151284 0.000165178 1 1 0 CCDC174 51244 broad.mit.edu 37 3 14703060 14703060 + Missense_Mutation SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr3:14703060C>T ENST00000383794.3 + 5 404 c.331C>T c.(331-333)Ctt>Ttt p.L111F CCDC174_ENST00000303688.7_Missense_Mutation_p.L111F NM_016474.4 NP_057558.3 coiled-coil domain containing 174 p.L111F(1) GGATATGTACCTTGTGGATTT 0.408000 5 180 0 0 1 0 0 KIF20B 9585 broad.mit.edu 37 10 91470871 91470871 + Missense_Mutation SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr10:91470871G>A ENST00000416354.1 + 6 716 c.644G>A c.(643-645)aGc>aAc p.S215N KIF20B_ENST00000260753.4_Missense_Mutation_p.S215N|KIF20B_ENST00000371728.3_Missense_Mutation_p.S215N|KIF20B_ENST00000394289.2_Missense_Mutation_p.S215N Q96Q89 KI20B_HUMAN kinesin family member 20B 215 Kinesin-motor. cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding p.S215N(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 GAAATTGCTAGCAAAAGTGCA 0.313000 11 130 0 0 1 0 0 SAP30BP 29115 broad.mit.edu 37 17 73663474 73663474 + Silent SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr17:73663474C>T ENST00000584667.1 + 1 279 c.22C>T c.(22-24)Ctg>Ttg p.L8L SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Silent_p.L8L NM_013260.6 NP_037392.1 Q9UHR5 S30BP_HUMAN SAP30 binding protein 8 apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.L8L(1) kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1) 17 all_cancers(13;6.42e-08) all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GAAGAATGTTCTGTCGTCTCT 0.607000 5 53 0 0 1 0 0 NUBPL 80224 broad.mit.edu 37 14 32295838 32295838 + Missense_Mutation SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr14:32295838C>T ENST00000281081.7 + 8 656 c.611C>T c.(610-612)gCt>gTt p.A204V NUBPL_ENST00000536705.1_Missense_Mutation_p.A108V|NUBPL_ENST00000418681.2_3'UTR NM_001201573.1|NM_001201574.1|NM_025152.2 NP_001188502.1|NP_001188503.1|NP_079428.2 Q8TB37 NUBPL_HUMAN nucleotide binding protein-like 204 mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis mitochondrion 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding p.A174V(1) endometrium(1)|lung(2)|prostate(1)|skin(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0102) TGGCTAGGTGCTGTGATTGTC 0.428000 24 94 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181727100 181727100 + Silent SNP C C T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr1:181727100C>T ENST00000526775.1 + 30 4455 c.4290C>T c.(4288-4290)ttC>ttT p.F1430F CACNA1E_ENST00000367567.4_Silent_p.F1056F|CACNA1E_ENST00000367573.2_Silent_p.F1449F|CACNA1E_ENST00000360108.3_Silent_p.F1430F|CACNA1E_ENST00000357570.5_Silent_p.F1400F|CACNA1E_ENST00000367570.1_Silent_p.F1449F|CACNA1E_ENST00000358338.5_Silent_p.F1381F NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1449 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.F1449F(1) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GCATCGACTTCGCCATCAGCG 0.522000 14 122 0 0 1 0 0 SPDYC 387778 broad.mit.edu 37 11 64939787 64939787 + Missense_Mutation SNP G G A TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr11:64939787G>A ENST00000377185.2 + 4 411 c.329G>A c.(328-330)aGc>aAc p.S110N NM_001008778.1 NP_001008778.1 Q5MJ68 SPDYC_HUMAN speedy/RINGO cell cycle regulator family member C 110 Speedy/Ringo box; Required for CDK- binding (By similarity). cell cycle nucleus protein kinase binding p.S110N(1) breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1) 16 ACCCACAGCAGCCTGTTCTTG 0.612000 10 113 0 0 1 0 0 DCST2 127579 broad.mit.edu 37 1 155005742 155005743 + Splice_Site INS - - G TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr1:155005742_155005743insG ENST00000368424.3 - 2 327 c.e2-2 DCST2_ENST00000295536.5_Splice_Site NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGCCCTGCCCTGGGGGCGACAG 0.569 25 46 --- --- --- --- RP11-584P21.2 0 broad.mit.edu 37 4 68311853 68311855 + RNA DEL GAG GAG - TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr4:68311853_68311855delGAG ENST00000502400.1 - 0 34 TCTCTATGGCGAGGAGGAGGAGG 0.547 2 4 --- --- --- --- SMPD4P1 0 broad.mit.edu 37 22 20975867 20975870 + RNA DEL AATA AATA - rs111319236 TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chr22:20975867_20975870delAATA ENST00000443839.1 - 0 1853_1856 AAGCATATGTAATACTCGAACGGA 0.559 7 8 --- --- --- --- AC006157.2 0 broad.mit.edu 37 Y 2765368 2765369 + RNA INS - - T TCGA-EJ-5530-01A-01D-1576-08 TCGA-EJ-5530-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058daa8b-f3ee-4992-b05e-91c13d9945ec b153654d-dc6f-4409-afb3-30fd935ea8b5 g.chrY:2765368_2765369insT ENST00000515575.1 + 0 42 AGCAAAATTAGTTTTTTTTTTG 0.282 2 4 --- --- --- ---