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 MYO1E 4643 broad.mit.edu 37 15 59564611 59564611 + Missense_Mutation SNP T T G TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr15:59564611T>G ENST00000288235.4 - 2 440 c.41A>C c.(40-42)cAc>cCc p.H14P NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE 14 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity p.H14P(1) breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) CTTGACATTGTGGCTTTGCCA 0.438000 62 131 0 0 0.870114 0 0 SLC35F1 222553 broad.mit.edu 37 6 118598702 118598702 + Nonsense_Mutation SNP G G A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr6:118598702G>A ENST00000360388.4 + 6 1041 c.840G>A c.(838-840)tgG>tgA p.W280* NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 280 transport integral to membrane p.W280*(1) breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) CCTGGGACTGGCAAATAGGTA 0.433000 4 242 0 0 0.217242 0 0 ITFG1 81533 broad.mit.edu 37 16 47189690 47189690 + Splice_Site SNP C C A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr16:47189690C>A ENST00000320640.6 - 18 2008 c.e18-1 RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000544001.2_Splice_Site|ITFG1_ENST00000568047.1_Splice_Site|RP11-329J18.2_ENST00000564705.1_RNA NM_030790.3 NP_110417.2 Q8TB96 TIP_HUMAN integrin alpha FG-GAP repeat containing 1 extracellular region|integral to membrane p.?(1) breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 19 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) CATCTGCTTTCTGAAAAAGAA 0.333000 132 275 4.54241e-80 5.89923e-80 0.870114 1 0 RNF149 284996 broad.mit.edu 37 2 101924707 101924707 + Missense_Mutation SNP C C T TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr2:101924707C>T ENST00000295317.3 - 1 451 c.344G>A c.(343-345)cGt>cAt p.R115H NM_173647.3 NP_775918.2 Q8NC42 RN149_HUMAN ring finger protein 149 115 PA. integral to membrane ligase activity|zinc ion binding p.R115H(2) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 12 GCAGCCCCCACGAGCCACCAG 0.726000 4 5 0 0 0.150653 0 0 SPATA5L1 79029 broad.mit.edu 37 15 45695158 45695158 + Silent SNP G G A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr15:45695158G>A ENST00000305560.6 + 1 630 c.531G>A c.(529-531)ctG>ctA p.L177L SPATA5L1_ENST00000559860.1_Silent_p.L177L NM_024063.2 NP_076968.2 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 177 cytoplasm ATP binding|nucleoside-triphosphatase activity p.L177L(1) kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) CCGCTGGGCTGGTCACCCCTC 0.731000 3 26 0 0 0.115264 0 0 CR1L 1379 broad.mit.edu 37 1 207867727 207867727 + Missense_Mutation SNP G G A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr1:207867727G>A ENST00000508064.2 + 5 553 c.493G>A c.(493-495)Gcc>Acc p.A165T CR1L_ENST00000530905.1_Intron NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 165 Sushi 3. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 CCCCACCATCGCCAATGGAGA 0.423000 5 141 0 0 0.184627 0 0 DEK 7913 broad.mit.edu 37 6 18258550 18258550 + Missense_Mutation SNP A A C TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr6:18258550A>C ENST00000397239.3 - 3 679 c.232T>G c.(232-234)Ttt>Gtt p.F78V DEK_ENST00000244776.7_Intron NM_003472.3 NP_003463.1 P35659 DEK_HUMAN DEK oncogene 78 chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding p.F78V(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) GCAATTGTAAATGGCTCTCTC 0.363000 T NUP214 AML 56 186 0 0 0.870114 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135922225 135922225 + Missense_Mutation SNP G G A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr2:135922225G>A ENST00000264158.8 + 23 2711 c.2668G>A c.(2668-2670)Gct>Act p.A890T RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.A846T|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.A890T NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 890 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding p.A890T(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) AAGAGGACATGCTGGCAGGAT 0.488000 20 44 0 0 0.667858 0 0 EFCAB7 84455 broad.mit.edu 37 1 63999825 63999825 + Missense_Mutation SNP A A C TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr1:63999825A>C ENST00000371088.4 + 6 988 c.742A>C c.(742-744)Aca>Cca p.T248P NM_032437.2 NP_115813.2 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 248 T -> I (in dbSNP:rs6693255). calcium ion binding p.T248P(1) breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 TGTTTCCTTCACAGTTACCAT 0.358000 64 121 0 0 0.870114 0 0 ERBB4 2066 broad.mit.edu 37 2 212251657 212251657 + Silent SNP C C A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr2:212251657C>A ENST00000342788.4 - 27 3712 c.3402G>T c.(3400-3402)gtG>gtT p.V1134V ERBB4_ENST00000402597.1_Silent_p.V1124V|ERBB4_ENST00000436443.1_Silent_p.V1118V NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 1134 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.V1134V(1) NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CTGGGGCAAACACGGTGGGGT 0.522000 TSP Lung(8;0.080) 54 124 1.93748e-29 2.45251e-29 0.870114 1 0 CLCN2 1181 broad.mit.edu 37 3 184075851 184075851 + Silent SNP G G T TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr3:184075851G>T ENST00000265593.4 - 5 685 c.514C>A c.(514-516)Cgg>Agg p.R172R CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000434054.2_Silent_p.R128R|CLCN2_ENST00000457512.1_Silent_p.R172R|CLCN2_ENST00000344937.7_Silent_p.R172R|EIF2B5_ENST00000444495.1_Intron NM_004366.5 NP_004357.3 P51788 CLCN2_HUMAN chloride channel, voltage-sensitive 2 172 chloride channel complex voltage-gated chloride channel activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) ACCACTCCCCGCAAGATGGTC 0.572000 4 231 0.00909568 0.00999525 0.150653 1 0 MIR376C 0 broad.mit.edu 37 14 101506035 101506035 + RNA SNP G G T TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr14:101506035G>T ENST00000607441.1 + 0 19 NR_029861.1 TTAAAAGGTGGATATTCCTTC 0.383000 36 69 2.04263e-09 2.43171e-09 0.796494 1 0 CLGN 1047 broad.mit.edu 37 4 141317358 141317358 + Splice_Site SNP C C T TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr4:141317358C>T ENST00000325617.5 - 9 1326 c.884_splice c.e9-1 p.D296_splice CLGN_ENST00000537281.1_Splice_Site_p.D296_splice|CLGN_ENST00000414773.1_Splice_Site_p.D296_splice NM_004362.2 NP_004353.1 O14967 CLGN_HUMAN calmegin 296 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding p.D296N(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) TCACTTTCATCCCTGTAAATA 0.338000 63 246 0 0 0.870114 0 0 KCNK4 50801 broad.mit.edu 37 11 64065643 64065643 + Missense_Mutation SNP C C T rs143683020 TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr11:64065643C>T ENST00000538767.1 + 5 628 c.376C>T c.(376-378)Cgg>Tgg p.R126W KCNK4_ENST00000539651.1_3'UTR|KCNK4_ENST00000422670.2_Silent_p.L241L|KCNK4_ENST00000394525.2_Silent_p.L241L|KCNK4_ENST00000539216.1_Silent_p.L241L|RP11-783K16.10_ENST00000539086.1_RNA Q9NYG8 KCNK4_HUMAN potassium channel, subfamily K, member 4 0 integral to membrane potassium channel activity|voltage-gated ion channel activity p.L241L(1) breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1) 10 GGATCCTGCTCGGCCTGGCTT 0.637000 16 36 0 0 0.520397 0 0 BTK 695 broad.mit.edu 37 X 100630266 100630266 + Missense_Mutation SNP C C A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chrX:100630266C>A ENST00000308731.7 - 2 170 c.7G>T c.(7-9)Gca>Tca p.A3S BTK_ENST00000464567.1_5'UTR|BTK_ENST00000372880.1_Missense_Mutation_p.A3S NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 3 PH. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding p.A3S(3) breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 AGAATCACTGCGGCCATAGCT 0.468000 Agammaglobulinemia, X-linked 117 62 4.05427e-82 5.33457e-82 0.870114 1 0 TRANK1 9881 broad.mit.edu 37 3 36874132 36874132 + Silent SNP C C T TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr3:36874132C>T ENST00000429976.2 - 21 7057 c.6810G>A c.(6808-6810)ctG>ctA p.L2270L TRANK1_ENST00000301807.6_Silent_p.L1720L|TRANK1_ENST00000428977.2_Silent_p.L1720L O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2270 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding p.L1713L(1)|p.L1720L(1)|p.L2270L(1) NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CATTTTCAAACAGAAAGTGGA 0.468000 103 98 0 0 0.870114 0 0 RP11-483E23.2 0 broad.mit.edu 37 15 28600002 28600002 + RNA SNP T T A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr15:28600002T>A ENST00000568624.1 - 0 404 TTCGTATGGTTTGAACCTGGG 0.493000 5 206 0 0 0.217242 0 0 RBM5 10181 broad.mit.edu 37 3 50147121 50147121 + Splice_Site SNP G G A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr3:50147121G>A ENST00000347869.3 + 15 1453 c.1278_splice c.e15+1 p.P426_splice RBM5_ENST00000441812.2_3'UTR NM_005778.3 NP_005769.1 P52756 RBM5_HUMAN RNA binding motif protein 5 426 Required for interaction with U2AF2. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding p.P426P(1) breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2) 19 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTGGCTCTCCGGTAATCCTGT 0.463000 88 228 0 0 0.870114 0 0 C1orf116 79098 broad.mit.edu 37 1 207195634 207195634 + Missense_Mutation SNP C C A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr1:207195634C>A ENST00000359470.5 - 4 1724 c.1475G>T c.(1474-1476)aGc>aTc p.S492I C1orf116_ENST00000461135.2_Missense_Mutation_p.S246I NM_023938.5 NP_076427.2 Q9BW04 SARG_HUMAN chromosome 1 open reading frame 116 492 cytoplasm|plasma membrane receptor activity p.S492T(1)|p.S492I(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) AAGGTAGCTGCTCAGTCCCAC 0.542000 3 41 0.115264 0.125287 0.115264 1 0 ZIC1 7545 broad.mit.edu 37 3 147130364 147130364 + Missense_Mutation SNP G G A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr3:147130364G>A ENST00000282928.4 + 2 1771 c.1042G>A c.(1042-1044)Gac>Aac p.D348N NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 348 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D348N(2) central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 TAACAGCAGCGACCGCAAGAA 0.532000 39 208 0 0 0.840704 0 0 ZNF536 9745 broad.mit.edu 37 19 30935719 30935719 + Missense_Mutation SNP G G A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr19:30935719G>A ENST00000355537.3 + 2 1397 c.1250G>A c.(1249-1251)gGc>gAc p.G417D NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 417 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.G417D(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CCCATGGGCGGCATGTCCCAG 0.632000 3 82 0 0 0.115264 0 0 SETD5 55209 broad.mit.edu 37 3 9482170 9482170 + Missense_Mutation SNP G G A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr3:9482170G>A ENST00000402466.1 + 9 1072 c.304G>A c.(304-306)Gag>Aag p.E102K SETD5_ENST00000302463.6_Missense_Mutation_p.E102K|SETD5_ENST00000407969.1_Missense_Mutation_p.E219K|SETD5_ENST00000402198.1_Missense_Mutation_p.E200K|SETD5_ENST00000406341.1_Missense_Mutation_p.E200K Q9C0A6 SETD5_HUMAN SET domain containing 5 200 p.E200K(1)|p.E102K(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) GAATTTAGATGAGAATACAAC 0.433000 15 39 0 0 0.667858 0 0 HARBI1 283254 broad.mit.edu 37 11 46625305 46625305 + Missense_Mutation SNP A A C TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr11:46625305A>C ENST00000326737.3 - 3 1072 c.825T>G c.(823-825)gaT>gaG p.D275E NM_173811.3 NP_776172.1 Q96MB7 HARB1_HUMAN harbinger transposase derived 1 275 cytoplasm|nucleus metal ion binding|nuclease activity p.D275E(1) large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1) 3 CCTTGGATCCATCCAGGCAGC 0.517000 15 33 0 0 0.479597 0 0 FZD4 8322 broad.mit.edu 37 11 86662648 86662648 + Missense_Mutation SNP G G A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr11:86662648G>A ENST00000531380.1 - 2 1455 c.1150C>T c.(1150-1152)Ctc>Ttc p.L384F PRSS23_ENST00000533902.2_3'UTR|PRSS23_ENST00000531521.1_3'UTR NM_012193.3 NP_036325.2 Q9ULV1 FZD4_HUMAN frizzled family receptor 4 384 canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway cell projection|cell surface|cytoplasm cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding p.L384F(1) breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1) 21 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AGGGCATCGAGATTTTGGTTT 0.483000 10 150 0 0 0.335167 0 0 C5 727 broad.mit.edu 37 9 123805397 123805397 + Silent SNP C C T rs151322743 byFrequency TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr9:123805397C>T ENST00000223642.1 - 3 335 c.306G>A c.(304-306)gtG>gtA p.V102V NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 102 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity p.V102V(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) CTTCCAAATACACATAAGAAA 0.299000 23 80 0 0 0.624587 0 0 FZD4 8322 broad.mit.edu 37 11 86663024 86663024 + Silent SNP G G A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr11:86663024G>A ENST00000531380.1 - 2 1079 c.774C>T c.(772-774)ctC>ctT p.L258L PRSS23_ENST00000533902.2_3'UTR NM_012193.3 NP_036325.2 Q9ULV1 FZD4_HUMAN frizzled family receptor 4 258 canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway cell projection|cell surface|cytoplasm cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding p.L258L(1) breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1) 21 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AGCACATACTGAGAAATATGA 0.458000 7 61 0 0 0.278610 0 0 GPR174 84636 broad.mit.edu 37 X 78426887 78426887 + Missense_Mutation SNP A A G TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chrX:78426887A>G ENST00000276077.1 + 1 419 c.383A>G c.(382-384)gAc>gGc p.D128G NM_032553.1 NP_115942.1 Q9BXC1 GP174_HUMAN G protein-coupled receptor 174 128 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.D128G(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 38 CGCTTCCATGACTGCAAACAG 0.458000 HNSCC(63;0.18) 124 63 0 0 0.870114 0 0 MGAM 8972 broad.mit.edu 37 7 141754596 141754596 + Silent SNP C C T TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr7:141754596C>T ENST00000475668.2 + 27 3256 c.3202C>T c.(3202-3204)Ctg>Ttg p.L1068L MGAM_ENST00000549489.2_Silent_p.L1068L O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1068 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.L1068L(4) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TCCAGTCCCTCTGAACATACC 0.433000 118 84 0 0 0.870114 0 0 TARBP1 6894 broad.mit.edu 37 1 234556448 234556448 + Splice_Site SNP C C T TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr1:234556448C>T ENST00000040877.1 - 21 3554 c.3555_splice c.e21+1 p.Q1185_splice NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 1185 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) AATATGATACCTGGTCAAGTC 0.338000 49 96 0 0 0.870114 0 0 TFAM 7019 broad.mit.edu 37 10 60148567 60148567 + Missense_Mutation SNP G G A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr10:60148567G>A ENST00000487519.1 + 4 955 c.429G>A c.(427-429)atG>atA p.M143I TFAM_ENST00000373895.3_Missense_Mutation_p.M143I|TFAM_ENST00000373899.3_3'UTR NM_003201.1 NP_003192.1 Q00059 TFAM_HUMAN transcription factor A, mitochondrial 143 DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter mitochondrial nucleoid mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity p.M143I(1) kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 GGAAAGCTATGACAAAAAAAA 0.269000 46 83 0 0 0.870114 0 0 PATE2 399967 broad.mit.edu 37 11 125647403 125647403 + Missense_Mutation SNP C C T TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr11:125647403C>T ENST00000358524.3 - 4 261 c.216G>A c.(214-216)atG>atA p.M72I PATE2_ENST00000436890.2_Missense_Mutation_p.M29I NM_212555.2 NP_997720.1 Q6UY27 PATE2_HUMAN prostate and testis expressed 2 72 extracellular space p.M72I(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1) 6 AATAATGATACATGCTCTGCC 0.423000 33 100 0 0 0.769981 0 0 PRM3 58531 broad.mit.edu 37 16 11367307 11367307 + Missense_Mutation SNP G G A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr16:11367307G>A ENST00000327157.2 - 1 145 c.146C>T c.(145-147)gCg>gTg p.A49V RMI2_ENST00000572173.1_Intron NM_021247.1 NP_067070.1 Q9NNZ6 PRM3_HUMAN protamine 3 49 cell differentiation|chromosome condensation|multicellular organismal development|spermatogenesis nucleosome|nucleus DNA binding p.0?(1) ttcctcGCCCGCTGATGACAA 0.617000 7 3 0 0 0.278610 0 0 SETD5 55209 broad.mit.edu 37 3 9482254 9482254 + Missense_Mutation SNP G G A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr3:9482254G>A ENST00000402466.1 + 9 1156 c.388G>A c.(388-390)Gat>Aat p.D130N SETD5_ENST00000302463.6_Missense_Mutation_p.D130N|SETD5_ENST00000407969.1_Missense_Mutation_p.D247N|SETD5_ENST00000402198.1_Missense_Mutation_p.D228N|SETD5_ENST00000406341.1_Missense_Mutation_p.D228N Q9C0A6 SETD5_HUMAN SET domain containing 5 228 p.D228N(1)|p.D130N(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) GTACAGTGCAGATGTACAGAA 0.398000 8 55 0 0 0.779181 0 0 TP53 7157 broad.mit.edu 37 17 7578526 7578526 + Missense_Mutation SNP C C A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr17:7578526C>A ENST00000420246.2 - 5 536 c.404G>T c.(403-405)tGc>tTc p.C135F TP53_ENST00000445888.2_Missense_Mutation_p.C135F|TP53_ENST00000413465.2_Missense_Mutation_p.C135F|TP53_ENST00000455263.2_Missense_Mutation_p.C135F|TP53_ENST00000359597.4_Missense_Mutation_p.C135F|TP53_ENST00000269305.4_Missense_Mutation_p.C135F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 135 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCCAGTTGGCAAAACATCTT 0.572000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 23 30 4.26978e-12 5.20704e-12 0.654019 1 0 RHBDD1 84236 broad.mit.edu 37 2 227729702 227729702 + Missense_Mutation SNP G G C TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr2:227729702G>C ENST00000392062.2 + 4 817 c.293G>C c.(292-294)aGa>aCa p.R98T RHBDD1_ENST00000341329.3_Missense_Mutation_p.R98T NM_001167608.1 NP_001161080.1 Q8TEB9 RHBD1_HUMAN rhomboid domain containing 1 98 integral to membrane serine-type endopeptidase activity p.R98T(1) breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175) CTAGAAAGAAGACTGGGAAGT 0.423000 8 330 0 0 0.278610 0 0 ZAN 7455 broad.mit.edu 37 7 100350275 100350275 + RNA SNP A A G TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr7:100350275A>G ENST00000542585.1 + 0 2695 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.K849K(3) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCATGGAAAAACCCACCATCT 0.507000 39 71 0 0 0.834066 0 0 RHBDD1 84236 broad.mit.edu 37 2 227729679 227729679 + Nonsense_Mutation SNP G G A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr2:227729679G>A ENST00000392062.2 + 4 794 c.270G>A c.(268-270)tgG>tgA p.W90* RHBDD1_ENST00000341329.3_Nonsense_Mutation_p.W90* NM_001167608.1 NP_001161080.1 Q8TEB9 RHBD1_HUMAN rhomboid domain containing 1 90 integral to membrane serine-type endopeptidase activity p.W90*(1) breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175) CCATGCTCTGGAAAGGAATAA 0.423000 7 329 0 0 0.278610 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 6 60 0 0 0.217242 0 0 PNMA5 114824 broad.mit.edu 37 X 152158951 152158951 + Missense_Mutation SNP T T G TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chrX:152158951T>G ENST00000439251.1 - 2 1630 c.1192A>C c.(1192-1194)Agt>Cgt p.S398R PNMA5_ENST00000361887.5_Missense_Mutation_p.S398R|PNMA5_ENST00000535214.1_Missense_Mutation_p.S398R|PNMA5_ENST00000452693.1_Missense_Mutation_p.S398R NM_001103150.1 NP_001096620.1 Q96PV4 PNMA5_HUMAN paraneoplastic Ma antigen family member 5 398 apoptosis p.S398R(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) GTGCTTTCACTGCCTAACAGC 0.597000 74 42 0 0 0.870114 0 0 FGA 2243 broad.mit.edu 37 4 155507194 155507194 + Missense_Mutation SNP T T G TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr4:155507194T>G ENST00000302053.3 - 5 1465 c.1387A>C c.(1387-1389)Aaa>Caa p.K463Q FGA_ENST00000403106.3_Missense_Mutation_p.K463Q NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 463 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding p.K463Q(1) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) GTAACGGTTTTAGAGCATGAA 0.468000 133 312 0 0 0.870114 0 0 TSPAN2 10100 broad.mit.edu 37 1 115601593 115601593 + Missense_Mutation SNP G G T TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr1:115601593G>T ENST00000369516.2 - 5 386 c.355C>A c.(355-357)Cat>Aat p.H119N TSPAN2_ENST00000369515.2_Missense_Mutation_p.H94N|TSPAN2_ENST00000369514.2_Missense_Mutation_p.H119N NM_005725.4 NP_005716.2 O60636 TSN2_HUMAN tetraspanin 2 119 integral to membrane p.H119N(1) central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1) 10 Lung SC(450;0.211) all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) GTCTGAACATGTCGGATAGCC 0.418000 6 325 3.59834e-05 4.13602e-05 0.217242 1 0 U2SURP 23350 broad.mit.edu 37 3 142773862 142773862 + Missense_Mutation SNP C C T TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr3:142773862C>T ENST00000397933.2 + 26 2907 c.1625C>T c.(1624-1626)tCg>tTg p.S542L U2SURP_ENST00000493598.2_Missense_Mutation_p.S950L|U2SURP_ENST00000473835.2_Missense_Mutation_p.S951L O15042 SR140_HUMAN U2 snRNP-associated SURP domain containing 951 CID. RNA processing nucleus nucleotide binding|RNA binding p.S951L(2) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 31 TCACCAAAATCGGAGCGATCA 0.488000 10 13 0 0 0.361761 0 0 FMNL2 114793 broad.mit.edu 37 2 153475624 153475624 + Missense_Mutation SNP C C T TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr2:153475624C>T ENST00000288670.9 + 14 1946 c.1579C>T c.(1579-1581)Ccc>Tcc p.P527S NM_052905.3 NP_443137.2 Q96PY5 FMNL2_HUMAN formin-like 2 527 Pro-rich. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding p.P527S(1) central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 AGGACCCTTGCCCCCTCCTCC 0.542000 22 43 0 0 0.639603 0 0 MT-ND5 4540 broad.mit.edu 37 MT 14097 14097 + Silent SNP C C T TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chrM:14097C>T ENST00000361567.2 + 1 1761 c.1761C>T c.(1759-1761)taC>taT p.Y587Y P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 587 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) ATTAAACTTTACTTCCTCTCT 0.388000 25 2 0 0 0.750413 0 0 SPATA5L1 79029 broad.mit.edu 37 15 45695108 45695108 + Missense_Mutation SNP G G A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr15:45695108G>A ENST00000305560.6 + 1 580 c.481G>A c.(481-483)Gct>Act p.A161T SPATA5L1_ENST00000559860.1_Missense_Mutation_p.A161T NM_024063.2 NP_076968.2 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 161 cytoplasm ATP binding|nucleoside-triphosphatase activity p.A161T(1) kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) TGGCCTGGTGGCTGCCTTGCA 0.711000 7 37 0 0 0.248553 0 0 DUS3L 56931 broad.mit.edu 37 19 5787682 5787682 + Missense_Mutation SNP C C T TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr19:5787682C>T ENST00000309061.7 - 6 1226 c.1130G>A c.(1129-1131)tGt>tAt p.C377Y DUS3L_ENST00000320699.8_Missense_Mutation_p.C135Y NM_020175.2 NP_064560.2 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like (S. cerevisiae) 377 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding p.C377Y(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2) 14 CAGCTCGGCACACTTGGTCAT 0.627000 64 139 0 0 0.870114 0 0 AXL 558 broad.mit.edu 37 19 41763458 41763458 + Missense_Mutation SNP G G A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr19:41763458G>A ENST00000301178.4 + 19 2447 c.2257G>A c.(2257-2259)Gtg>Atg p.V753M AXL_ENST00000593513.1_Missense_Mutation_p.V485M|AXL_ENST00000359092.3_Missense_Mutation_p.V744M NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 753 Protein kinase. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.V744M(2) breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 ATATCCGGGCGTGGAGAACAG 0.567000 63 137 0 0 0.870114 0 0 SRMS 6725 broad.mit.edu 37 20 62172641 62172641 + Missense_Mutation SNP C C G TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr20:62172641C>G ENST00000217188.1 - 7 1228 c.1188G>C c.(1186-1188)gaG>gaC p.E396D NM_080823.2 NP_543013.1 Q9H3Y6 SRMS_HUMAN src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites 396 Protein kinase. ATP binding|non-membrane spanning protein tyrosine kinase activity p.E396D(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1) 19 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) AATTGGCCGCCTCAGGCGCTG 0.617000 45 229 0 0 0.870114 0 0 PPAT 5471 broad.mit.edu 37 4 57272694 57272694 + Silent SNP G G A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr4:57272694G>A ENST00000264220.2 - 3 506 c.369C>T c.(367-369)ggC>ggT p.G123G PPAT_ENST00000507648.1_5'UTR NM_002703.4 NP_002694.3 Q06203 PUR1_HUMAN phosphoribosyl pyrophosphate amidotransferase 123 Glutamine amidotransferase type-2. glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process cytosol 4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding p.G123G(1) cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 20 Glioma(25;0.08)|all_neural(26;0.101) L-Glutamine(DB00130)|Thioguanine(DB00352) TTACCAATTCGCCATTATGTG 0.393000 81 170 0 0 0.870114 0 0 TPRN 286262 broad.mit.edu 37 9 140086590 140086590 + Missense_Mutation SNP G G A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr9:140086590G>A ENST00000409012.4 - 4 2196 c.2110C>T c.(2110-2112)Cgc>Tgc p.R704C TPRN_ENST00000321773.2_Missense_Mutation_p.R671C NM_001128228.2 NP_001121700.2 Q4KMQ1 TPRN_HUMAN taperin 704 sensory perception of sound stereocilium p.R426C(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 8 GGCTCGCTGCGGAAGTCCGAG 0.627000 18 40 0 0 0.804634 0 0 SETD5 55209 broad.mit.edu 37 3 9482306 9482306 + Missense_Mutation SNP G G A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr3:9482306G>A ENST00000402466.1 + 9 1208 c.440G>A c.(439-441)gGc>gAc p.G147D SETD5_ENST00000302463.6_Missense_Mutation_p.G147D|SETD5_ENST00000407969.1_Missense_Mutation_p.G264D|SETD5_ENST00000402198.1_Missense_Mutation_p.G245D|SETD5_ENST00000406341.1_Missense_Mutation_p.G245D Q9C0A6 SETD5_HUMAN SET domain containing 5 245 p.G147D(1)|p.G245D(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) GAATTTGTGGGCAAACCTACT 0.408000 5 39 0 0 0.592651 0 0 SERPINB2 5055 broad.mit.edu 37 18 61558743 61558743 + Missense_Mutation SNP C C G TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr18:61558743C>G ENST00000457692.1 + 3 398 c.65C>G c.(64-66)gCa>gGa p.A22G SERPINB2_ENST00000299502.4_Missense_Mutation_p.A22G NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 22 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity p.A22G(1) NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) CTGGCAAAAGCAAGCCCCACC 0.502000 41 36 0 0 0.827153 0 0 SPATA5L1 79029 broad.mit.edu 37 15 45695169 45695169 + Missense_Mutation SNP G G T TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr15:45695169G>T ENST00000305560.6 + 1 641 c.542G>T c.(541-543)cGt>cTt p.R181L SPATA5L1_ENST00000559860.1_Missense_Mutation_p.R181L NM_024063.2 NP_076968.2 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 181 cytoplasm ATP binding|nucleoside-triphosphatase activity p.R181L(1) kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) GTCACCCCTCGTACCCGCGTC 0.736000 3 23 0.004672 0.00524944 0.115264 1 0 LPHN3 23284 broad.mit.edu 37 4 62598777 62598777 + Missense_Mutation SNP C C T TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr4:62598777C>T ENST00000512091.1 + 7 1447 c.700C>T c.(700-702)Cgg>Tgg p.R234W LPHN3_ENST00000508946.1_Missense_Mutation_p.R234W|LPHN3_ENST00000506700.1_Missense_Mutation_p.R234W|LPHN3_ENST00000514157.1_Missense_Mutation_p.R234W|LPHN3_ENST00000504896.1_Missense_Mutation_p.R234W|LPHN3_ENST00000509896.1_Missense_Mutation_p.R302W|LPHN3_ENST00000545650.1_Missense_Mutation_p.R234W|LPHN3_ENST00000514591.1_Missense_Mutation_p.R234W|LPHN3_ENST00000508693.1_Missense_Mutation_p.R302W|LPHN3_ENST00000507625.1_Missense_Mutation_p.R302W|LPHN3_ENST00000507164.1_Missense_Mutation_p.R302W|LPHN3_ENST00000506720.1_Missense_Mutation_p.R302W|LPHN3_ENST00000514996.1_Missense_Mutation_p.R234W|LPHN3_ENST00000506746.1_Missense_Mutation_p.R302W|LPHN3_ENST00000511324.1_Missense_Mutation_p.R302W Q9HAR2 LPHN3_HUMAN latrophilin 3 234 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding p.R234W(3) breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 GTTTGATTTGCGGACTAGGAT 0.468000 15 41 0 0 0.500413 0 0 KCND2 3751 broad.mit.edu 37 7 120381668 120381668 + Silent SNP C C A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr7:120381668C>A ENST00000331113.4 + 3 2324 c.1359C>A c.(1357-1359)ctC>ctA p.L453L NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 453 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding p.L453L(1) NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) ATGGTTTACTCAGTAATCAGC 0.358000 30 48 1.7881e-09 2.15434e-09 0.729181 1 0 SOGA2 23255 broad.mit.edu 37 18 8798101 8798101 + Missense_Mutation SNP C C A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr18:8798101C>A ENST00000359865.3 + 10 2390 c.2248C>A c.(2248-2250)Cat>Aat p.H750N SOGA2_ENST00000518815.1_Missense_Mutation_p.H65N|SOGA2_ENST00000517570.1_Missense_Mutation_p.H709N|SOGA2_ENST00000306329.11_Missense_Mutation_p.H1069N|SOGA2_ENST00000306285.7_Missense_Mutation_p.H65N|SOGA2_ENST00000400050.3_Missense_Mutation_p.H709N NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1060 p.H750N(1) TCAGGGTGAACATCCAGAGAC 0.547000 3 59 0.00909568 0.00999525 0.150653 1 0 GPT2 84706 broad.mit.edu 37 16 46943652 46943652 + Silent SNP C C T TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr16:46943652C>T ENST00000440783.2 + 6 998 c.333C>T c.(331-333)atC>atT p.I111I GPT2_ENST00000340124.4_Silent_p.I211I NM_001142466.1 NP_001135938.1 Q8TD30 ALAT2_HUMAN glutamic pyruvate transaminase (alanine aminotransferase) 2 211 2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process mitochondrial matrix L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding p.I211I(1) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GTGTGATGATCCCCATCCCAC 0.537000 118 81 0 0 0.870114 0 0 SETD5 55209 broad.mit.edu 37 3 9482199 9482199 + Silent SNP G G A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr3:9482199G>A ENST00000402466.1 + 9 1101 c.333G>A c.(331-333)cgG>cgA p.R111R SETD5_ENST00000302463.6_Silent_p.R111R|SETD5_ENST00000407969.1_Silent_p.R228R|SETD5_ENST00000402198.1_Silent_p.R209R|SETD5_ENST00000406341.1_Silent_p.R209R Q9C0A6 SETD5_HUMAN SET domain containing 5 209 p.R111R(1)|p.R209R(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) GGGAAAATCGGATAAGACTAT 0.413000 4 50 0 0 0.693898 0 0 SETD5 55209 broad.mit.edu 37 3 9482262 9482262 + Missense_Mutation SNP G G C TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr3:9482262G>C ENST00000402466.1 + 9 1164 c.396G>C c.(394-396)caG>caC p.Q132H SETD5_ENST00000302463.6_Missense_Mutation_p.Q132H|SETD5_ENST00000407969.1_Missense_Mutation_p.Q249H|SETD5_ENST00000402198.1_Missense_Mutation_p.Q230H|SETD5_ENST00000406341.1_Missense_Mutation_p.Q230H Q9C0A6 SETD5_HUMAN SET domain containing 5 230 p.Q230H(1)|p.Q132H(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) CAGATGTACAGAACGCGCTTG 0.393000 11 53 0 0 0.750413 0 0 DPYD 1806 broad.mit.edu 37 1 97564128 97564128 + Missense_Mutation SNP T T C TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr1:97564128T>C ENST00000370192.3 - 21 2783 c.2683A>G c.(2683-2685)Att>Gtt p.I895V DPYD-AS1_ENST00000422980.1_RNA NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 895 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity p.I895V(2) NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TTCAGTCTAATCTTGTTTTCT 0.363000 68 131 0 0 0.870114 0 0 CNTN4 152330 broad.mit.edu 37 3 2613235 2613235 + Nonsense_Mutation SNP C C A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr3:2613235C>A ENST00000397461.1 + 3 432 c.48C>A c.(46-48)tgC>tgA p.C16* CNTN4_ENST00000427331.1_Nonsense_Mutation_p.C16*|CNTN4_ENST00000418658.1_Nonsense_Mutation_p.C16* NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 16 axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding p.C16*(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TCATTTTGTGCCTTGCAGGTA 0.393000 66 111 5.79337e-17 7.1523e-17 0.870114 1 0 VPS33B 26276 broad.mit.edu 37 15 91549291 91549291 + Splice_Site SNP T T A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr15:91549291T>A ENST00000333371.3 - 12 1206 c.e12-2 VPS33B_ENST00000535843.1_Splice_Site|VPS33B_ENST00000535906.1_Splice_Site NM_018668.3 NP_061138.3 Q9H267 VP33B_HUMAN vacuolar protein sorting 33 homolog B (yeast) cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding p.?(1) central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2) 16 Lung NSC(78;0.0987)|all_lung(78;0.175) ATTAAACACCTGTGAGGACAG 0.473000 3 77 0 0 0.115264 0 0 PDIA6 10130 broad.mit.edu 37 2 10933278 10933278 + Missense_Mutation SNP G G C TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr2:10933278G>C ENST00000404371.2 - 7 890 c.553C>G c.(553-555)Cag>Gag p.Q185E PDIA6_ENST00000540494.1_Missense_Mutation_p.Q130E|PDIA6_ENST00000381611.4_Missense_Mutation_p.Q138E|PDIA6_ENST00000404824.2_Missense_Mutation_p.Q181E|PDIA6_ENST00000272227.3_Missense_Mutation_p.Q133E Q15084 PDIA6_HUMAN protein disulfide isomerase family A, member 6 133 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|protein folding endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity p.Q133E(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2) 18 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15) TTCACGAGCTGGCGCAGAGCA 0.522000 18 68 0 0 0.557998 0 0 PPP2R5E 5529 broad.mit.edu 37 14 63858555 63858555 + Missense_Mutation SNP T T C TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr14:63858555T>C ENST00000337537.3 - 10 1536 c.934A>G c.(934-936)Aaa>Gaa p.K312E PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.K312E|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.K236E NM_006246.2 NP_006237.1 Q16537 2A5E_HUMAN protein phosphatase 2, regulatory subunit B', epsilon isoform 312 signal transduction cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity p.K312E(1) endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1) 15 OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128) CTACATGTTTTAGGCCAAAAT 0.333000 40 97 0 0 0.859065 0 0 FZD4 8322 broad.mit.edu 37 11 86662613 86662613 + Silent SNP G G A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr11:86662613G>A ENST00000531380.1 - 2 1490 c.1185C>T c.(1183-1185)ctC>ctT p.L395L PRSS23_ENST00000533902.2_3'UTR|PRSS23_ENST00000531521.1_3'UTR NM_012193.3 NP_036325.2 Q9ULV1 FZD4_HUMAN frizzled family receptor 4 395 canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway cell projection|cell surface|cytoplasm cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding p.L395L(1) breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1) 21 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AATAAGTAAAGAGGGGAGCCA 0.453000 8 182 0 0 0.278610 0 0 SLC5A8 160728 broad.mit.edu 37 12 101588917 101588917 + Missense_Mutation SNP C C T TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr12:101588917C>T ENST00000536262.2 - 4 1051 c.493G>A c.(493-495)Gcg>Acg p.A165T NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 165 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity p.A165T(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GCCACTACCGCGCCCCACAGA 0.403000 29 38 0 0 0.717897 0 0 AADAC 13 broad.mit.edu 37 3 151545911 151545911 + Missense_Mutation SNP G G T TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr3:151545911G>T ENST00000232892.6 + 5 1277 c.1151G>T c.(1150-1152)aGt>aTt p.S384I RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA NM_001086.2 NP_001077.2 P22760 AAAD_HUMAN arylacetamide deacetylase 384 positive regulation of triglyceride catabolic process endoplasmic reticulum membrane|integral to membrane|microsome carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity p.S384I(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2) 19 Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112) LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) CTTAAAATTAGTCACAGACTT 0.348000 59 111 1.4709e-25 1.83863e-25 0.870114 1 0 FZD4 8322 broad.mit.edu 37 11 86662880 86662880 + Silent SNP G G A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr11:86662880G>A ENST00000531380.1 - 2 1223 c.918C>T c.(916-918)ttC>ttT p.F306F PRSS23_ENST00000533902.2_3'UTR NM_012193.3 NP_036325.2 Q9ULV1 FZD4_HUMAN frizzled family receptor 4 306 canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway cell projection|cell surface|cytoplasm cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding p.F306F(1) breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1) 21 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) ACATCAGCAAGAAAATTATTG 0.448000 3 86 0 0 0.115264 0 0 B4GALNT3 283358 broad.mit.edu 37 12 665808 665808 + Missense_Mutation SNP G G T TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr12:665808G>T ENST00000266383.5 + 15 2169 c.2156G>T c.(2155-2157)gGc>gTc p.G719V NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 719 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity p.G719V(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) TTGGAACAAGGCCAGCGCGTG 0.617000 5 74 1.23904e-05 1.44074e-05 0.184627 1 0 RMDN3 55177 broad.mit.edu 37 15 41036294 41036294 + Missense_Mutation SNP C C T TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr15:41036294C>T ENST00000260385.6 - 5 1928 c.861G>A c.(859-861)atG>atA p.M287I RMDN3_ENST00000558560.1_Intron|RMDN3_ENST00000338376.3_Missense_Mutation_p.M287I regulator of microtubule dynamics 3 TGAGCTCACACATGTCACTGT 0.557000 4 143 0 0 0.150653 0 0 CHD1L 9557 broad.mit.edu 37 1 146731533 146731533 + Missense_Mutation SNP G G T TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr1:146731533G>T ENST00000369258.4 + 6 557 c.537G>T c.(535-537)ttG>ttT p.L179F CHD1L_ENST00000431239.1_Missense_Mutation_p.L179F|CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_5'UTR NM_001256336.1|NM_004284.4|NM_024568.2 NP_001243265.1|NP_004275.4|NP_078844.2 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 1-like 179 Helicase ATP-binding. chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding p.L179F(2) breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(923;0.0487) CTCACAGGTTGAAAAACCAAA 0.358000 152 308 2.91861e-41 3.74181e-41 0.870114 1 0 INTS1 26173 broad.mit.edu 37 7 1538175 1538175 + Missense_Mutation SNP G G A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr7:1538175G>A ENST00000389470.4 - 11 1681 c.1682C>T c.(1681-1683)gCg>gTg p.A561V INTS1_ENST00000404767.3_Missense_Mutation_p.A433V Q8N201 INT1_HUMAN integrator complex subunit 1 433 snRNA processing integral to membrane|integrator complex|nuclear membrane p.A561V(1) autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) GTCCTTGTGCGCGCTCAGCAG 0.647000 18 22 0 0 0.575678 0 0 HMCN1 83872 broad.mit.edu 37 1 186077666 186077666 + Missense_Mutation SNP A A C TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr1:186077666A>C ENST00000271588.4 + 71 11155 c.10926A>C c.(10924-10926)gaA>gaC p.E3642D HMCN1_ENST00000367492.2_Missense_Mutation_p.E3642D NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3642 Ig-like C2-type 35. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TGACATTGGAATGCAAGTCAG 0.423000 3 139 0 0 0.115264 0 0 CFH 3075 broad.mit.edu 37 1 196658588 196658588 + Missense_Mutation SNP C C G TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr1:196658588C>G ENST00000367429.4 + 8 1243 c.1003C>G c.(1003-1005)Cta>Gta p.L335V CFH_ENST00000439155.2_Missense_Mutation_p.L335V|CFH_ENST00000359637.2_Missense_Mutation_p.L271V NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 335 Sushi 6. complement activation, alternative pathway extracellular space p.L335V(1) NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 ACATGGAGGTCTATATCATGA 0.308000 9 150 0 0 0.335167 0 0 HOXB2 3212 broad.mit.edu 37 17 46622154 46622154 + Silent SNP C C G TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr17:46622154C>G ENST00000330070.4 - 1 1287 c.120G>C c.(118-120)tcG>tcC p.S40S HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 40 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S40S(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 GAATTAATGTCGACTCCTTGA 0.557000 11 126 0 0 0.411799 0 0 PASK 23178 broad.mit.edu 37 2 242066484 242066484 + Nonsense_Mutation SNP C C A TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr2:242066484C>A ENST00000403638.3 - 10 1937 c.1846G>T c.(1846-1848)Gaa>Taa p.E616* PASK_ENST00000234040.4_Nonsense_Mutation_p.E616*|PASK_ENST00000544142.1_Nonsense_Mutation_p.E430*|PASK_ENST00000405260.1_Nonsense_Mutation_p.E616*|PASK_ENST00000358649.4_Nonsense_Mutation_p.E616*|PASK_ENST00000539818.1_Nonsense_Mutation_p.E400* NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 616 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) AAGCCCCATTCACTCCCATAG 0.662000 4 156 2.56e-06 3.01176e-06 0.150653 1 0 IRAK2 3656 broad.mit.edu 37 3 10268074 10268074 + Missense_Mutation SNP C C T TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr3:10268074C>T ENST00000256458.4 + 10 1319 c.1229C>T c.(1228-1230)aCg>aTg p.T410M NM_001570.3 NP_001561.3 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 410 Protein kinase. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity p.T410M(1) breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1) 25 GAGGTCCTCACGGGCATCCCT 0.537000 26 46 0 0 0.693898 0 0 FIP1L1 81608 broad.mit.edu 37 4 54319248 54319249 + Frame_Shift_Del DEL AG AG - TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr4:54319248_54319249delAG ENST00000337488.6 + 16 1641_1642 c.1447_1448delAG c.(1447-1449)afs p.R483fs FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs NM_030917.3 NP_112179.2 Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 483 Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3. mRNA processing nucleus RNA binding p.R487fs*3(2) large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) agaACGCACCAGAGAGAGAGAG 0.470 T PDGFRA idiopathic hypereosinophilic syndrome 9 120 --- --- --- --- GAPVD1 26130 broad.mit.edu 37 9 128122940 128122940 + Frame_Shift_Del DEL C C - TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr9:128122940delC ENST00000470056.1 + 24 4257 c.4097delC c.(4096-4098)gcfs p.A1366fs GAPVD1_ENST00000495955.1_Frame_Shift_Del_p.A1411fs|GAPVD1_ENST00000297933.6_Frame_Shift_Del_p.A1393fs|GAPVD1_ENST00000312123.9_Frame_Shift_Del_p.A1372fs|GAPVD1_ENST00000394083.2_Frame_Shift_Del_p.A1345fs|GAPVD1_ENST00000394105.2_Frame_Shift_Del_p.A1420fs|GAPVD1_ENST00000394104.2_Frame_Shift_Del_p.A1411fs|GAPVD1_ENST00000265956.4_Frame_Shift_Del_p.A1385fs Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 1411 VPS9. endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 CTGAGCCTGGCCAATGAGGAC 0.468 93 200 --- --- --- --- MLLT10 8028 broad.mit.edu 37 10 22022438 22022438 + Frame_Shift_Del DEL A A - TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr10:22022438delA ENST00000377072.3 + 20 2809 c.2461delA c.(2461-2463)ctfs p.T822fs MLLT10_ENST00000446906.2_Frame_Shift_Del_p.T806fs|MLLT10_ENST00000307729.7_Frame_Shift_Del_p.T806fs|MLLT10_ENST00000377059.3_Frame_Shift_Del_p.T806fs NM_004641.3 NP_004632.1 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 822 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 TCTAGCTCCTACTACTGATTC 0.318 T """MLL, PICALM, CDK6""" AL 31 41 --- --- --- --- FZD4 8322 broad.mit.edu 37 11 86663230 86663231 + Frame_Shift_Ins INS - - T TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr11:86663230_86663231insT ENST00000531380.1 - 2 872_873 c.567_568insA c.(565-570)gaagtafs p.V190fs PRSS23_ENST00000533902.2_3'UTR NM_012193.3 NP_036325.2 Q9ULV1 FZD4_HUMAN frizzled family receptor 4 190 canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway cell projection|cell surface|cytoplasm cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1) 21 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CAGATGTACTGATCAGAATTGG 0.515 7 234 --- --- --- --- ITFG1 81533 broad.mit.edu 37 16 47189674 47189674 + Frame_Shift_Del DEL C C - TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr16:47189674delC ENST00000320640.6 - 18 2023 c.1795delG c.(1795-1797)aafs p.E599fs RP11-329J18.2_ENST00000564705.1_RNA|ITFG1_ENST00000544001.2_3'UTR|ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000565694.1_RNA NM_030790.3 NP_110417.2 Q8TB96 TIP_HUMAN integrin alpha FG-GAP repeat containing 1 599 extracellular region|integral to membrane breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 19 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) TGTCGTTTTTCTCTATCATCT 0.323 208 362 --- --- --- --- DVL2 1856 broad.mit.edu 37 17 7131298 7131299 + Frame_Shift_Ins INS - - G rs145282702 TCGA-CH-5761-01A-11D-1576-08 TCGA-CH-5761-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx bb9b1203-fc4a-40c9-867a-436a54c61cf3 b8efa698-2592-447e-b038-3b4da4ebf6de g.chr17:7131298_7131299insG ENST00000005340.5 - 10 1381_1382 c.1099_1100insC c.(1099-1101)aaafs p.K367fs DVL2_ENST00000575458.1_Frame_Shift_Ins_p.K361fs NM_004422.2 NP_004413.1 O14641 DVL2_HUMAN dishevelled segment polarity protein 2 367 canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1) 25 TCACTCACTTCGGGGGAGAGTG 0.644 14 30 --- --- --- ---