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 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 5 151 0 0 0.00116845 0 0 ORAI2 80228 broad.mit.edu 37 7 102087367 102087367 + Silent SNP C C T rs144660402 TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr7:102087367C>T ENST00000356387.2 + 4 868 c.633C>T c.(631-633)ttC>ttT p.F211F ORAI2_ENST00000473939.1_Silent_p.F211F|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000403646.3_Silent_p.F211F|ORAI2_ENST00000478730.1_Silent_p.F211F NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3 NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 2 211 integral to membrane protein binding autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GCCTCATCTTCGTGGTCTTCA 0.667000 6 36 0 0 0.00116845 0 0 TMEM8A 58986 broad.mit.edu 37 16 426140 426140 + Missense_Mutation SNP T T C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr16:426140T>C ENST00000431232.2 - 6 1380 c.1220A>G c.(1219-1221)aAc>aGc p.N407S TMEM8A_ENST00000250930.3_Missense_Mutation_p.N214S NM_021259.2 NP_067082.2 Q9HCN3 TMM8A_HUMAN transmembrane protein 8A 407 cell adhesion integral to plasma membrane central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 14 AGGTACCTTGTTGGCCCGCAG 0.682000 4 24 0 0 0.00024832 0 0 PCDHGA10 0 broad.mit.edu 37 5 140795088 140795088 + Silent SNP G G A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr5:140795088G>A ENST00000398610.2 + 1 2346 c.2346G>A c.(2344-2346)acG>acA p.T782T PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 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) ATGCGGACACGCTCATCAGCC 0.507000 18 122 0 0 0.00121646 0 0 SYNGR2 9144 broad.mit.edu 37 17 76168029 76168029 + Missense_Mutation SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr17:76168029C>T ENST00000588282.1 + 3 782 c.776C>T c.(775-777)gCg>gTg p.A259V SYNGR2_ENST00000590201.1_3'UTR|SYNGR2_ENST00000225777.3_3'UTR|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000589711.1_3'UTR|SYNGR2_ENST00000585591.1_Intron NM_004710.3 NP_004701.1 O43760 SNG2_HUMAN synaptogyrin 2 0 integral to plasma membrane endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1) 7 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994) CGGCGGTTAGCGTGGGAAGGG 0.632000 11 75 0 0 0.000673444 0 0 ZNF3 7551 broad.mit.edu 37 7 99669788 99669788 + Missense_Mutation SNP T T C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr7:99669788T>C ENST00000303915.6 - 5 1286 c.319A>G c.(319-321)Aga>Gga p.R107G ZNF3_ENST00000299667.4_Missense_Mutation_p.R107G|ZNF3_ENST00000424697.1_Missense_Mutation_p.R107G|ZNF3_ENST00000413658.2_Intron P17036 ZNF3_HUMAN zinc finger protein 3 107 KRAB. cell differentiation|leukocyte activation|multicellular organismal development nucleus DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 25 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029) STAD - Stomach adenocarcinoma(171;0.129) CCATGTGATCTTGTGTCTTCA 0.403000 16 81 0 0 0.00074312 0 0 CRMP1 1400 broad.mit.edu 37 4 5862782 5862782 + Missense_Mutation SNP G G A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr4:5862782G>A ENST00000324989.7 - 3 714 c.626C>T c.(625-627)gCg>gTg p.A209V CRMP1_ENST00000397890.2_Missense_Mutation_p.A95V|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Missense_Mutation_p.A93V NM_001014809.1 NP_001014809.1 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 95 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) CACCAGTGCCGCCCTGGTCCC 0.582000 12 48 0 0 0.00244969 0 0 CD46 4179 broad.mit.edu 37 1 207940420 207940420 + Missense_Mutation SNP T T A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr1:207940420T>A ENST00000358170.2 + 6 892 c.736T>A c.(736-738)Ttt>Att p.F246I CD46_ENST00000367041.1_Missense_Mutation_p.F246I|CD46_ENST00000361067.1_Missense_Mutation_p.F246I|CD46_ENST00000322875.4_Missense_Mutation_p.F246I|CD46_ENST00000354848.1_Missense_Mutation_p.F246I|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322918.5_Missense_Mutation_p.F246I|CD46_ENST00000367047.1_Missense_Mutation_p.F183I|CD46_ENST00000367042.1_Missense_Mutation_p.F246I|CD46_ENST00000441839.2_Missense_Mutation_p.F246I|CD46_ENST00000357714.1_Missense_Mutation_p.F246I|CD46_ENST00000360212.2_Missense_Mutation_p.F246I|CD46_ENST00000480003.1_Missense_Mutation_p.F246I NM_002389.4 NP_002380.3 P15529 MCP_HUMAN CD46 molecule, complement regulatory protein 246 Sushi 4. complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization inner acrosomal membrane|integral to plasma membrane protein binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 19 TGGAAAAAAATTTTACTACAA 0.378000 10 45 0 0 0.000673444 0 0 NLRC5 84166 broad.mit.edu 37 16 57116361 57116361 + Missense_Mutation SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr16:57116361C>T ENST00000262510.6 + 49 5747 c.5522C>T c.(5521-5523)gCc>gTc p.A1841V NLRC5_ENST00000308149.7_Missense_Mutation_p.A1812V|NLRC5_ENST00000539144.1_Missense_Mutation_p.A1812V|NLRC5_ENST00000436936.1_3'UTR NM_032206.4 NP_115582.4 Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1841 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) TGCGACATGGCCCAGCACCTG 0.567000 12 62 0 0 0.000958276 0 0 FBXW11 23291 broad.mit.edu 37 5 171318481 171318481 + Missense_Mutation SNP T T C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr5:171318481T>C ENST00000296933.6 - 6 1110 c.740A>G c.(739-741)aAt>aGt p.N247S FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000265094.5_Missense_Mutation_p.N260S|FBXW11_ENST00000425623.2_Missense_Mutation_p.N228S|FBXW11_ENST00000393802.2_Missense_Mutation_p.N226S NM_033644.2|NM_033645.2 NP_387448.2|NP_387449.2 Q9UKB1 FBW1B_HUMAN F-box and WD repeat domain containing 11 260 cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway centrosome|cytosol|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2) 21 Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CTTAATAGAATTATCTCGTAG 0.348000 7 44 0 0 0.000274275 0 0 NBPF10 100132406 broad.mit.edu 37 1 145328417 145328417 + Missense_Mutation SNP A A G TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr1:145328417A>G ENST00000342960.5 + 33 4300 c.4265A>G c.(4264-4266)gAc>gGc p.D1422G NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 1422 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GAAGACCAAGACCCACCATGC 0.458000 3 62 0 0 6.4e-05 0 0 RAB5C 5878 broad.mit.edu 37 17 40280784 40280784 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr17:40280784G>T ENST00000393860.3 - 4 517 c.201C>A c.(199-201)gaC>gaA p.D67E RAB5C_ENST00000346213.4_Missense_Mutation_p.D67E|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.D67E|RAB5C_ENST00000547517.1_Missense_Mutation_p.D100E NM_201434.2 NP_958842.1 P51148 RAB5C_HUMAN RAB5C, member RAS oncogene family 67 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|plasma membrane GTP binding|GTPase activity|protein binding large_intestine(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) TGACTGTTGTGTCATCCAGGC 0.577000 12 66 1.61879e-10 8.40636e-10 0.00136819 1 0 IGKV3D-20 0 broad.mit.edu 37 2 90078039 90078039 + RNA SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr2:90078039C>T ENST00000390270.2 + 0 173 TGTGTTGACGCAGTCTCCAGC 0.502000 24 110 0 0 0.00395357 0 0 C17orf78 284099 broad.mit.edu 37 17 35736258 35736258 + Missense_Mutation SNP C C G TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr17:35736258C>G ENST00000300618.4 + 3 379 c.329C>G c.(328-330)tCc>tGc p.S110C ACACA_ENST00000416895.1_Intron|ACACA_ENST00000353139.5_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.S110C NM_173625.3 NP_775896.3 Q8N4C9 CQ078_HUMAN chromosome 17 open reading frame 78 110 integral to membrane NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1) 6 Breast(25;0.00295)|Ovarian(249;0.15) AGCTCTGCCTCCTCAAGCTGT 0.458000 6 136 0 0 0.00198382 0 0 E2F3 1871 broad.mit.edu 37 6 20486928 20486928 + Missense_Mutation SNP A A G TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr6:20486928A>G ENST00000346618.3 + 5 959 c.893A>G c.(892-894)tAt>tGt p.Y298C E2F3_ENST00000535432.1_Missense_Mutation_p.Y167C NM_001949.4 NP_001940.1 O00716 E2F3_HUMAN E2F transcription factor 3 298 Dimerization (Potential). G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3) 7 all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148) OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562) ACGTTAGCTTATGTTACATAT 0.333000 7 44 0 0 0.00307968 0 0 WDR33 55339 broad.mit.edu 37 2 128474753 128474753 + Missense_Mutation SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr2:128474753C>T ENST00000322313.4 - 17 3003 c.2845G>A c.(2845-2847)Gga>Aga p.G949R NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 949 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GGTCCTTGTCCGGGGTTCAGA 0.478000 3 19 0 0 6.4e-05 0 0 C11orf87 399947 broad.mit.edu 37 11 109294695 109294695 + Silent SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr11:109294695C>T ENST00000327419.6 + 2 739 c.336C>T c.(334-336)ggC>ggT p.G112G RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA NM_207645.3 NP_997528.2 Q6NUJ2 CK087_HUMAN chromosome 11 open reading frame 87 112 integral to membrane breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 GCCGCGGTGGCGGGGGGCTGC 0.652000 5 86 0 0 0.00116845 0 0 ALDH2 217 broad.mit.edu 37 12 112237730 112237730 + Silent SNP G G A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr12:112237730G>A ENST00000261733.2 + 11 1330 c.1269G>A c.(1267-1269)caG>caA p.Q423Q ALDH2_ENST00000416293.3_Silent_p.Q376Q NM_000690.3 NP_000681.2 P05091 ALDH2_HUMAN aldehyde dehydrogenase 2 family (mitochondrial) 423 carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process mitochondrial matrix aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 22 Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727) CAGTGATGCAGATCCTGAAGT 0.552000 T HMGA2 leiomyoma 11 28 0 0 0.00185496 0 0 OR6C4 341418 broad.mit.edu 37 12 55945169 55945169 + Silent SNP C C G TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr12:55945169C>G ENST00000394256.2 + 1 187 c.159C>G c.(157-159)ctC>ctG p.L53L RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 ACCCCCACCTCCAGACCCCCA 0.418000 32 141 0 0 0.00428921 0 0 SPOP 8405 broad.mit.edu 37 17 47696643 47696643 + Missense_Mutation SNP A A C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr17:47696643A>C ENST00000393331.3 - 6 775 c.305T>G c.(304-306)tTc>tGc p.F102C SPOP_ENST00000503676.1_Missense_Mutation_p.F102C|SPOP_ENST00000393328.2_Missense_Mutation_p.F102C|SPOP_ENST00000504102.1_Missense_Mutation_p.F102C|SPOP_ENST00000347630.2_Missense_Mutation_p.F102C NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 102 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F102C(2) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 GGAGAATTTGAATTTTGCCCG 0.408000 Prostate(2;0.17) 15 79 0 0 0.000566183 0 0 DNAH7 56171 broad.mit.edu 37 2 196737068 196737068 + Missense_Mutation SNP A A C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr2:196737068A>C ENST00000312428.6 - 40 6639 c.6539T>G c.(6538-6540)cTc>cGc p.L2180R NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2180 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GAAATCACGGAGGTTGAACAA 0.398000 3 96 0 0 6.4e-05 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43915893 43915893 + Missense_Mutation SNP G G C rs143747399 by1000genomes TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr9:43915893G>C ENST00000377564.3 + 23 4134 c.3741G>C c.(3739-3741)atG>atC p.M1247I NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 1247 cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 CTGCTGTCATGGGAGGTAACA 0.433000 3 53 0 0 6.4e-05 0 0 P2RY14 9934 broad.mit.edu 37 3 150931786 150931786 + Missense_Mutation SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr3:150931786C>T ENST00000309170.3 - 3 631 c.319G>A c.(319-321)Gtc>Atc p.V107I MED12L_ENST00000273432.4_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.V107I|MED12L_ENST00000474524.1_Intron NM_001081455.1|NM_014879.3 NP_001074924.1|NP_055694.3 Q15391 P2Y14_HUMAN purinergic receptor P2Y, G-protein coupled, 14 107 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1) 20 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ACAATGCTGACGTACATGTTG 0.453000 8 39 0 0 0.000274275 0 0 AGAP3 116988 broad.mit.edu 37 7 150839292 150839292 + Missense_Mutation SNP G G A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr7:150839292G>A ENST00000397238.2 + 15 2002 c.2002G>A c.(2002-2004)Gtc>Atc p.V668I AGAP3_ENST00000463381.1_Missense_Mutation_p.V337I NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 632 Arf-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 TGTGCAGGCCGTCCGCACCGT 0.622000 42 202 0 0 0.00361006 0 0 HFM1 164045 broad.mit.edu 37 1 91851252 91851252 + Missense_Mutation SNP T T C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr1:91851252T>C ENST00000370425.3 - 5 732 c.634A>G c.(634-636)Aaa>Gaa p.K212E HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 212 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TACTGAAATTTTTGCTTACTA 0.343000 7 43 0 0 0.00307968 0 0 N4BP2 55728 broad.mit.edu 37 4 40119567 40119567 + Missense_Mutation SNP A A G TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr4:40119567A>G ENST00000261435.6 + 8 2159 c.1743A>G c.(1741-1743)atA>atG p.I581M NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 581 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 CAGTGCCAATAATTATGAGTT 0.358000 17 51 0 0 0.000566183 0 0 ZNF398 0 broad.mit.edu 37 7 148876421 148876421 + Missense_Mutation SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr7:148876421C>T ENST00000420008.2 + 6 1732 c.944C>T c.(943-945)cCt>cTt p.P315L ZNF398_ENST00000475153.1_Missense_Mutation_p.P486L|ZNF398_ENST00000540950.1_Missense_Mutation_p.P491L|ZNF398_ENST00000335901.4_Missense_Mutation_p.P315L|ZNF398_ENST00000491174.1_Missense_Mutation_p.P315L|ZNF398_ENST00000426851.2_Missense_Mutation_p.P315L|ZNF398_ENST00000483892.1_Missense_Mutation_p.P315L NM_170686.2 NP_733787.1 Q8TD17 ZN398_HUMAN zinc finger protein 398 486 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1) 25 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) TTCTCCTGCCCTCAGTGTGGC 0.612000 12 61 0 0 0.00136819 0 0 ZNF789 285989 broad.mit.edu 37 7 99079801 99079801 + Missense_Mutation SNP A A C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr7:99079801A>C ENST00000379724.3 + 4 366 c.167A>C c.(166-168)gAt>gCt p.D56A ZNF789_ENST00000483089.1_3'UTR|ZNF789_ENST00000448667.1_Intron|ZNF789_ENST00000331410.5_Intron|ZNF789_ENST00000493485.1_Intron NM_001013258.1 NP_001013276.1 Q5FWF6 ZN789_HUMAN zinc finger protein 789 55 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1) 11 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) ttccagtttgatgctgcaata 0.378000 11 49 0 0 0.000978159 0 0 CELSR1 9620 broad.mit.edu 37 22 46930952 46930952 + Missense_Mutation SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr22:46930952C>T ENST00000262738.3 - 1 2115 c.2116G>A c.(2116-2118)Gtg>Atg p.V706M CELSR1_ENST00000395964.1_Missense_Mutation_p.V706M NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 706 Cadherin 5. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) AGGGTCAGCACGCTGCTCCCC 0.627000 6 28 0 0 0.00307968 0 0 ADPGK 83440 broad.mit.edu 37 15 73045050 73045050 + Missense_Mutation SNP G G A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr15:73045050G>A ENST00000311669.8 - 7 1216 c.1123C>T c.(1123-1125)Ctc>Ttc p.L375F ADPGK_ENST00000456471.2_Missense_Mutation_p.L101F NM_031284.4 NP_112574.3 Q9BRR6 ADPGK_HUMAN ADP-dependent glucokinase 376 ADPK. glycolysis extracellular region ADP-specific glucokinase activity|metal ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1) 7 ATCCTGGTGAGATCCGAGGCT 0.552000 11 57 0 0 0.00185496 0 0 FAM50B 26240 broad.mit.edu 37 6 3850540 3850540 + Silent SNP C C G TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr6:3850540C>G ENST00000380274.1 + 1 921 c.495C>G c.(493-495)ctC>ctG p.L165L FAM50B_ENST00000380272.3_Silent_p.L165L Q9Y247 FA50B_HUMAN family with sequence similarity 50, member B 165 nucleus cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3) 17 Ovarian(93;0.0925) all_hematologic(90;0.108) AGAACCGGCTCCGAGAGGAGC 0.687000 6 47 0 0 0.00116845 0 0 NGB 58157 broad.mit.edu 37 14 77737232 77737232 + Missense_Mutation SNP T T C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr14:77737232T>C ENST00000298352.4 - 1 423 c.49A>G c.(49-51)Agc>Ggc p.S17G NM_021257.3 NP_067080.1 Q9NPG2 NGB_HUMAN neuroglobin 17 Globin. hemoglobin complex heme binding|oxygen binding|oxygen transporter activity endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 8 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0273) GGGCTGCGGCTCACTGCCCGC 0.746000 2 5 0 0 6.4e-05 0 0 TNXB 7148 broad.mit.edu 37 6 32037543 32037543 + Missense_Mutation SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr6:32037543C>T ENST00000375244.3 - 15 5575 c.5374G>A c.(5374-5376)Gtg>Atg p.V1792M TNXB_ENST00000375247.2_Missense_Mutation_p.V1792M P22105 TENX_HUMAN tenascin XB 1874 Fibronectin type-III 10. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GAGAGGCCCACGGAGTTCTGG 0.622000 8 22 0 0 0.000274275 0 0 LAMA1 284217 broad.mit.edu 37 18 6943285 6943285 + Missense_Mutation SNP G G C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr18:6943285G>C ENST00000389658.3 - 62 9054 c.8961C>G c.(8959-8961)caC>caG p.H2987Q NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2987 Laminin G-like 5. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAGTGATACGGTGTTTGCTTT 0.493000 5 137 0 0 0.00198382 0 0 FAM120B 84498 broad.mit.edu 37 6 170639606 170639606 + Missense_Mutation SNP A A T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr6:170639606A>T ENST00000476287.1 + 4 2093 c.1985A>T c.(1984-1986)gAc>gTc p.D662V FAM120B_ENST00000540480.1_Missense_Mutation_p.D674V|FAM120B_ENST00000537664.1_Missense_Mutation_p.D685V|FAM120B_ENST00000252510.9_5'UTR NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B 662 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) AGGCACCCGGACCTCGTCAGG 0.483000 9 83 0 0 0.000978159 0 0 KMT2C 58508 broad.mit.edu 37 7 151879331 151879331 + Nonsense_Mutation SNP G G A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr7:151879331G>A ENST00000355193.2 - 36 5832 c.5614C>T c.(5614-5616)Cag>Tag p.Q1872* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q1872* lysine (K)-specific methyltransferase 2C TGAGAAGTCTGAGCCTGAGAA 0.512000 27 122 0 0 0.00395357 0 0 FCRL3 115352 broad.mit.edu 37 1 157648602 157648602 + Silent SNP G G A rs148976786 byFrequency TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr1:157648602G>A ENST00000368184.3 - 15 2394 c.2103C>T c.(2101-2103)gaC>gaT p.D701D FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.D701D NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 701 integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) CTGCAGAGTCGTCTGGGTGTG 0.468000 8 51 0 0 0.00307968 0 0 LONRF2 164832 broad.mit.edu 37 2 100916210 100916210 + Missense_Mutation SNP G G C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr2:100916210G>C ENST00000393437.3 - 5 1875 c.1236C>G c.(1234-1236)gaC>gaG p.D412E LONRF2_ENST00000409647.1_Missense_Mutation_p.D169E NM_198461.3 NP_940863.3 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 2 412 proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 GGGCGTTCAGGTCAGGTGCAT 0.448000 9 94 0 0 0.000673444 0 0 NPBWR2 2832 broad.mit.edu 37 20 62737951 62737951 + Silent SNP C C T rs142068571 TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr20:62737951C>T ENST00000369768.1 - 1 573 c.234G>A c.(232-234)acG>acA p.T78T NM_005286.2 NP_005277.2 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 78 plasma membrane opioid receptor activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) CGTTGGTCACCGTCTTCATCT 0.617000 4 17 0 0 0.00024832 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178634552 178634552 + Missense_Mutation SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr5:178634552C>T ENST00000251582.7 - 4 954 c.853G>A c.(853-855)Gag>Aag p.E285K ADAMTS2_ENST00000274609.5_Missense_Mutation_p.E285K NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 285 Peptidase M12B. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) TGTACGTGCTCCTTCCCGTGG 0.637000 9 128 0 0 0.000442599 0 0 ZNF576 79177 broad.mit.edu 37 19 44103213 44103213 + Missense_Mutation SNP A A C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr19:44103213A>C ENST00000336564.4 + 3 470 c.316A>C c.(316-318)Act>Cct p.T106P SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000525771.1_Missense_Mutation_p.T106P|ZNF576_ENST00000529930.1_Missense_Mutation_p.T106P|ZNF576_ENST00000391965.2_Missense_Mutation_p.T106P|ZNF576_ENST00000533118.1_Missense_Mutation_p.T106P|ZNF576_ENST00000528387.1_Missense_Mutation_p.T106P|SRRM5_ENST00000526798.1_Intron NM_001145347.1 NP_001138819.1 Q9H609 ZN576_HUMAN zinc finger protein 576 106 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|prostate(1) 2 Prostate(69;0.0199) GGTTGCAACCACTACTGCCCA 0.652000 9 97 0 0 0.000274275 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 3 3 0 0 6.4e-05 0 0 SORCS2 57537 broad.mit.edu 37 4 7684513 7684513 + Missense_Mutation SNP A A T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr4:7684513A>T ENST00000507866.2 + 10 1494 c.1385A>T c.(1384-1386)gAt>gTt p.D462V SORCS2_ENST00000329016.9_Missense_Mutation_p.D290V NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 462 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 CAAAAAATTGATGGGAAAGTG 0.468000 7 25 0 0 0.00198382 0 0 ATL3 25923 broad.mit.edu 37 11 63398754 63398754 + Missense_Mutation SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr11:63398754C>T ENST00000398868.3 - 12 1573 c.1297G>A c.(1297-1299)Ggt>Agt p.G433S ATL3_ENST00000332645.4_Missense_Mutation_p.G460S|ATL3_ENST00000538786.1_Missense_Mutation_p.G415S NM_015459.3 NP_056274.3 Q6DD88 ATLA3_HUMAN atlastin GTPase 3 433 endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 11 TTCTTGCTACCATTGTGCTTG 0.493000 5 95 0 0 0.00116845 0 0 DDX60L 91351 broad.mit.edu 37 4 169337892 169337892 + Missense_Mutation SNP A A C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr4:169337892A>C ENST00000511577.1 - 20 2914 c.2667T>G c.(2665-2667)atT>atG p.I889M DDX60L_ENST00000260184.7_Missense_Mutation_p.I889M|DDX60L_ENST00000505890.1_Missense_Mutation_p.I889M Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 889 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) GACATCGAATAATGACAAGGA 0.358000 15 84 0 0 0.000566183 0 0 CP 1356 broad.mit.edu 37 3 148896263 148896263 + Silent SNP A A G TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr3:148896263A>G ENST00000264613.6 - 16 3079 c.2817T>C c.(2815-2817)tcT>tcC p.S939S NM_000096.3 NP_000087.1 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 939 F5/8 type A 3.|Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) CGGGGTGATCAGAGTATGTTT 0.323000 6 94 0 0 0.00198382 0 0 DIS3 22894 broad.mit.edu 37 13 73347832 73347832 + Missense_Mutation SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr13:73347832C>T ENST00000377767.4 - 8 1329 c.1229G>A c.(1228-1230)aGa>aAa p.R410K DIS3_ENST00000377780.4_Missense_Mutation_p.R380K|DIS3_ENST00000545453.1_Missense_Mutation_p.R248K NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 410 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) ATTTGGATATCTGGAATTTCT 0.323000 Multiple Myeloma(4;0.011) 10 42 0 0 0.000442599 0 0 HELB 92797 broad.mit.edu 37 12 66698883 66698883 + Missense_Mutation SNP A A G TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr12:66698883A>G ENST00000247815.4 + 2 619 c.560A>G c.(559-561)gAa>gGa p.E187G NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 187 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) AATGGTCAGGAAGAGTTGTTC 0.353000 10 72 0 0 0.000673444 0 0 GJA8 2703 broad.mit.edu 37 1 147380335 147380335 + Missense_Mutation SNP G G A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr1:147380335G>A ENST00000240986.4 + 2 306 c.253G>A c.(253-255)Gtc>Atc p.V85I GJA8_ENST00000369235.1_Missense_Mutation_p.V85I NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 85 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) GATCATCTTCGTCTCCACCCC 0.637000 10 80 0 0 0.00136819 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5186169 5186169 + Missense_Mutation SNP G G A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr5:5186169G>A ENST00000274181.7 + 5 906 c.768G>A c.(766-768)atG>atA p.M256I ADAMTS16_ENST00000511368.1_Missense_Mutation_p.M256I NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 256 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 CCATAGACATGCCCCAGCCTC 0.468000 37 190 0 0 0.00285205 0 0 OXSR1 9943 broad.mit.edu 37 3 38292947 38292947 + Missense_Mutation SNP A A G TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr3:38292947A>G ENST00000311806.3 + 16 1801 c.1429A>G c.(1429-1431)Agg>Ggg p.R477G NM_005109.2 NP_005100.1 O95747 OXSR1_HUMAN oxidative stress responsive 1 477 intracellular protein kinase cascade|response to oxidative stress ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) GGTCGACGGAAGGGATTTAGT 0.458000 6 230 0 0 0.00198382 0 0 KLF4 9314 broad.mit.edu 37 9 110250242 110250242 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr9:110250242G>T ENST00000374672.4 - 3 906 c.433C>A c.(433-435)Ccc>Acc p.P145T NM_004235.4 NP_004226.3 O43474 KLF4_HUMAN Kruppel-like factor 4 (gut) 145 Ser-rich. fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2) 16 CAGGTGGAGGGCGCGCTGGCA 0.721000 3 11 0.00024832 0.00124581 0.00024832 1 0 FAM120B 84498 broad.mit.edu 37 6 170639605 170639605 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr6:170639605G>T ENST00000476287.1 + 4 2092 c.1984G>T c.(1984-1986)Gac>Tac p.D662Y FAM120B_ENST00000540480.1_Missense_Mutation_p.D674Y|FAM120B_ENST00000537664.1_Missense_Mutation_p.D685Y|FAM120B_ENST00000252510.9_5'UTR NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B 662 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) GAGGCACCCGGACCTCGTCAG 0.483000 9 83 5.16669e-11 2.73096e-10 0.000978159 1 0 FAM196A 642938 broad.mit.edu 37 10 128973908 128973908 + Missense_Mutation SNP G G A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr10:128973908G>A ENST00000522781.1 - 4 1307 c.752C>T c.(751-753)aCg>aTg p.T251M DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.T251M NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 251 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 GGCAACCTCCGTTTTAAACAC 0.657000 6 41 0 0 0.00116845 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 5 151 0 0 0.00116845 0 0 ANKRD32 84250 broad.mit.edu 37 5 94030836 94030836 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr5:94030836C>A ENST00000265140.5 + 21 3415 c.2996C>A c.(2995-2997)aCc>aAc p.T999N ANKRD32_ENST00000493934.1_Intron NM_032290.3 NP_115666.2 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 999 NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 13 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) CATAAAGAAACCACCAGTGTT 0.348000 7 61 7.48243e-07 4.35819e-06 0.000442599 1 0 ORAI2 80228 broad.mit.edu 37 7 102087367 102087367 + Silent SNP C C T rs144660402 TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr7:102087367C>T ENST00000356387.2 + 4 868 c.633C>T c.(631-633)ttC>ttT p.F211F ORAI2_ENST00000478730.1_Silent_p.F211F|ORAI2_ENST00000473939.1_Silent_p.F211F|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000403646.3_Silent_p.F211F NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3 NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 2 211 integral to membrane protein binding autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GCCTCATCTTCGTGGTCTTCA 0.667000 6 36 0 0 0.00116845 0 0 TMEM8A 58986 broad.mit.edu 37 16 426140 426140 + Missense_Mutation SNP T T C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr16:426140T>C ENST00000431232.2 - 6 1380 c.1220A>G c.(1219-1221)aAc>aGc p.N407S TMEM8A_ENST00000250930.3_Missense_Mutation_p.N214S NM_021259.2 NP_067082.2 Q9HCN3 TMM8A_HUMAN transmembrane protein 8A 407 cell adhesion integral to plasma membrane central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 14 AGGTACCTTGTTGGCCCGCAG 0.682000 4 24 0 0 0.00024832 0 0 PCDHGA10 0 broad.mit.edu 37 5 140795088 140795088 + Silent SNP G G A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr5:140795088G>A ENST00000398610.2 + 1 2346 c.2346G>A c.(2344-2346)acG>acA p.T782T PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 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) ATGCGGACACGCTCATCAGCC 0.507000 18 122 0 0 0.00121646 0 0 SYNGR2 9144 broad.mit.edu 37 17 76168029 76168029 + Missense_Mutation SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr17:76168029C>T ENST00000588282.1 + 3 782 c.776C>T c.(775-777)gCg>gTg p.A259V SYNGR2_ENST00000590201.1_3'UTR|SYNGR2_ENST00000585591.1_Intron|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000225777.3_3'UTR|SYNGR2_ENST00000589711.1_3'UTR NM_004710.3 NP_004701.1 O43760 SNG2_HUMAN synaptogyrin 2 0 integral to plasma membrane endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1) 7 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994) CGGCGGTTAGCGTGGGAAGGG 0.632000 11 75 0 0 0.000673444 0 0 ZNF3 7551 broad.mit.edu 37 7 99669788 99669788 + Missense_Mutation SNP T T C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr7:99669788T>C ENST00000303915.6 - 5 1286 c.319A>G c.(319-321)Aga>Gga p.R107G ZNF3_ENST00000424697.1_Missense_Mutation_p.R107G|ZNF3_ENST00000299667.4_Missense_Mutation_p.R107G|ZNF3_ENST00000413658.2_Intron P17036 ZNF3_HUMAN zinc finger protein 3 107 KRAB. cell differentiation|leukocyte activation|multicellular organismal development nucleus DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 25 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029) STAD - Stomach adenocarcinoma(171;0.129) CCATGTGATCTTGTGTCTTCA 0.403000 16 81 0 0 0.00074312 0 0 CRMP1 1400 broad.mit.edu 37 4 5862782 5862782 + Missense_Mutation SNP G G A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr4:5862782G>A ENST00000324989.7 - 3 714 c.626C>T c.(625-627)gCg>gTg p.A209V CRMP1_ENST00000397890.2_Missense_Mutation_p.A95V|CRMP1_ENST00000512574.1_Missense_Mutation_p.A93V|CRMP1_ENST00000511535.1_5'UTR NM_001014809.1 NP_001014809.1 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 95 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) CACCAGTGCCGCCCTGGTCCC 0.582000 12 48 0 0 0.00244969 0 0 NLRC5 84166 broad.mit.edu 37 16 57116361 57116361 + Missense_Mutation SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr16:57116361C>T ENST00000262510.6 + 49 5747 c.5522C>T c.(5521-5523)gCc>gTc p.A1841V NLRC5_ENST00000539144.1_Missense_Mutation_p.A1812V|NLRC5_ENST00000308149.7_Missense_Mutation_p.A1812V|NLRC5_ENST00000436936.1_3'UTR NM_032206.4 NP_115582.4 Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1841 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) TGCGACATGGCCCAGCACCTG 0.567000 12 62 0 0 0.000958276 0 0 FBXW11 23291 broad.mit.edu 37 5 171318481 171318481 + Missense_Mutation SNP T T C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr5:171318481T>C ENST00000296933.6 - 6 1110 c.740A>G c.(739-741)aAt>aGt p.N247S FBXW11_ENST00000393802.2_Missense_Mutation_p.N226S|FBXW11_ENST00000425623.2_Missense_Mutation_p.N228S|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000265094.5_Missense_Mutation_p.N260S NM_033644.2|NM_033645.2 NP_387448.2|NP_387449.2 Q9UKB1 FBW1B_HUMAN F-box and WD repeat domain containing 11 260 cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway centrosome|cytosol|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2) 21 Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CTTAATAGAATTATCTCGTAG 0.348000 7 44 0 0 0.000274275 0 0 RAB5C 5878 broad.mit.edu 37 17 40280784 40280784 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr17:40280784G>T ENST00000393860.3 - 4 517 c.201C>A c.(199-201)gaC>gaA p.D67E RAB5C_ENST00000346213.4_Missense_Mutation_p.D67E|RAB5C_ENST00000547517.1_Missense_Mutation_p.D100E|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.D67E NM_201434.2 NP_958842.1 P51148 RAB5C_HUMAN RAB5C, member RAS oncogene family 67 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|plasma membrane GTP binding|GTPase activity|protein binding large_intestine(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) TGACTGTTGTGTCATCCAGGC 0.577000 12 66 1.61879e-10 9.59712e-10 0.00136819 1 0 IGKV3D-20 0 broad.mit.edu 37 2 90078039 90078039 + RNA SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr2:90078039C>T ENST00000390270.2 + 0 173 TGTGTTGACGCAGTCTCCAGC 0.502000 24 110 0 0 0.00395357 0 0 C17orf78 284099 broad.mit.edu 37 17 35736258 35736258 + Missense_Mutation SNP C C G TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr17:35736258C>G ENST00000300618.4 + 3 379 c.329C>G c.(328-330)tCc>tGc p.S110C C17orf78_ENST00000586700.1_Missense_Mutation_p.S110C|ACACA_ENST00000416895.1_Intron|ACACA_ENST00000353139.5_Intron NM_173625.3 NP_775896.3 Q8N4C9 CQ078_HUMAN chromosome 17 open reading frame 78 110 integral to membrane NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1) 6 Breast(25;0.00295)|Ovarian(249;0.15) AGCTCTGCCTCCTCAAGCTGT 0.458000 6 136 0 0 0.00198382 0 0 E2F3 1871 broad.mit.edu 37 6 20486928 20486928 + Missense_Mutation SNP A A G TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr6:20486928A>G ENST00000346618.3 + 5 959 c.893A>G c.(892-894)tAt>tGt p.Y298C E2F3_ENST00000535432.1_Missense_Mutation_p.Y167C NM_001949.4 NP_001940.1 O00716 E2F3_HUMAN E2F transcription factor 3 298 Dimerization (Potential). G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3) 7 all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148) OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562) ACGTTAGCTTATGTTACATAT 0.333000 7 44 0 0 0.00307968 0 0 WDR33 55339 broad.mit.edu 37 2 128474753 128474753 + Missense_Mutation SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr2:128474753C>T ENST00000322313.4 - 17 3003 c.2845G>A c.(2845-2847)Gga>Aga p.G949R NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 949 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GGTCCTTGTCCGGGGTTCAGA 0.478000 3 19 0 0 6.4e-05 0 0 C11orf87 399947 broad.mit.edu 37 11 109294695 109294695 + Silent SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr11:109294695C>T ENST00000327419.6 + 2 739 c.336C>T c.(334-336)ggC>ggT p.G112G RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA NM_207645.3 NP_997528.2 Q6NUJ2 CK087_HUMAN chromosome 11 open reading frame 87 112 integral to membrane breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 GCCGCGGTGGCGGGGGGCTGC 0.652000 5 86 0 0 0.00116845 0 0 ALDH2 217 broad.mit.edu 37 12 112237730 112237730 + Silent SNP G G A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr12:112237730G>A ENST00000261733.2 + 11 1330 c.1269G>A c.(1267-1269)caG>caA p.Q423Q ALDH2_ENST00000416293.3_Silent_p.Q376Q NM_000690.3 NP_000681.2 P05091 ALDH2_HUMAN aldehyde dehydrogenase 2 family (mitochondrial) 423 carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process mitochondrial matrix aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 22 Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727) CAGTGATGCAGATCCTGAAGT 0.552000 T HMGA2 leiomyoma 11 28 0 0 0.00185496 0 0 OR6C4 341418 broad.mit.edu 37 12 55945169 55945169 + Silent SNP C C G TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr12:55945169C>G ENST00000394256.2 + 1 187 c.159C>G c.(157-159)ctC>ctG p.L53L RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 ACCCCCACCTCCAGACCCCCA 0.418000 32 141 0 0 0.00428921 0 0 SPOP 8405 broad.mit.edu 37 17 47696643 47696643 + Missense_Mutation SNP A A C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr17:47696643A>C ENST00000393331.3 - 6 775 c.305T>G c.(304-306)tTc>tGc p.F102C SPOP_ENST00000503676.1_Missense_Mutation_p.F102C|SPOP_ENST00000393328.2_Missense_Mutation_p.F102C|SPOP_ENST00000347630.2_Missense_Mutation_p.F102C|SPOP_ENST00000504102.1_Missense_Mutation_p.F102C NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 102 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F102C(2) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 GGAGAATTTGAATTTTGCCCG 0.408000 Prostate(2;0.17) 15 79 0 0 0.000566183 0 0 DNAH7 56171 broad.mit.edu 37 2 196737068 196737068 + Missense_Mutation SNP A A C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr2:196737068A>C ENST00000312428.6 - 40 6639 c.6539T>G c.(6538-6540)cTc>cGc p.L2180R NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2180 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GAAATCACGGAGGTTGAACAA 0.398000 3 96 0 0 6.4e-05 0 0 N4BP2 55728 broad.mit.edu 37 4 40119567 40119567 + Missense_Mutation SNP A A G TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr4:40119567A>G ENST00000261435.6 + 8 2159 c.1743A>G c.(1741-1743)atA>atG p.I581M NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 581 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 CAGTGCCAATAATTATGAGTT 0.358000 17 51 0 0 0.000566183 0 0 P2RY14 9934 broad.mit.edu 37 3 150931786 150931786 + Missense_Mutation SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr3:150931786C>T ENST00000309170.3 - 3 631 c.319G>A c.(319-321)Gtc>Atc p.V107I P2RY14_ENST00000424796.2_Missense_Mutation_p.V107I|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron NM_001081455.1|NM_014879.3 NP_001074924.1|NP_055694.3 Q15391 P2Y14_HUMAN purinergic receptor P2Y, G-protein coupled, 14 107 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1) 20 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ACAATGCTGACGTACATGTTG 0.453000 8 39 0 0 0.000274275 0 0 CELSR1 9620 broad.mit.edu 37 22 46930952 46930952 + Missense_Mutation SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr22:46930952C>T ENST00000262738.3 - 1 2115 c.2116G>A c.(2116-2118)Gtg>Atg p.V706M CELSR1_ENST00000395964.1_Missense_Mutation_p.V706M NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 706 Cadherin 5. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) AGGGTCAGCACGCTGCTCCCC 0.627000 6 28 0 0 0.00307968 0 0 HFM1 164045 broad.mit.edu 37 1 91851252 91851252 + Missense_Mutation SNP T T C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr1:91851252T>C ENST00000370425.3 - 5 732 c.634A>G c.(634-636)Aaa>Gaa p.K212E HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 212 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TACTGAAATTTTTGCTTACTA 0.343000 7 43 0 0 0.00307968 0 0 DNM1P47 0 broad.mit.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr15:102304772T>C ENST00000561463.1 + 0 12818 CACAGCGGCGTGACGAGACTC 0.587000 3 11 0 0 6.4e-05 0 0 ZNF398 0 broad.mit.edu 37 7 148876421 148876421 + Missense_Mutation SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr7:148876421C>T ENST00000420008.2 + 6 1732 c.944C>T c.(943-945)cCt>cTt p.P315L ZNF398_ENST00000335901.4_Missense_Mutation_p.P315L|ZNF398_ENST00000491174.1_Missense_Mutation_p.P315L|ZNF398_ENST00000475153.1_Missense_Mutation_p.P486L|ZNF398_ENST00000483892.1_Missense_Mutation_p.P315L|ZNF398_ENST00000426851.2_Missense_Mutation_p.P315L|ZNF398_ENST00000540950.1_Missense_Mutation_p.P491L NM_170686.2 NP_733787.1 Q8TD17 ZN398_HUMAN zinc finger protein 398 486 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1) 25 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) TTCTCCTGCCCTCAGTGTGGC 0.612000 12 61 0 0 0.00136819 0 0 ZNF789 285989 broad.mit.edu 37 7 99079801 99079801 + Missense_Mutation SNP A A C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr7:99079801A>C ENST00000379724.3 + 4 366 c.167A>C c.(166-168)gAt>gCt p.D56A ZNF789_ENST00000448667.1_Intron|ZNF789_ENST00000331410.5_Intron|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000483089.1_3'UTR NM_001013258.1 NP_001013276.1 Q5FWF6 ZN789_HUMAN zinc finger protein 789 55 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1) 11 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) ttccagtttgatgctgcaata 0.378000 11 49 0 0 0.000978159 0 0 MUC5B 727897 broad.mit.edu 37 11 1266204 1266204 + Silent SNP G G A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr11:1266204G>A ENST00000447027.1 + 31 8161 c.8103G>A c.(8101-8103)acG>acA p.T2701T MUC5B_ENST00000529681.1_Silent_p.T2698T|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2698 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ctacgatcacggccaccggct 0.622000 3 9 0 0 0.000602214 0 0 ADPGK 83440 broad.mit.edu 37 15 73045050 73045050 + Missense_Mutation SNP G G A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr15:73045050G>A ENST00000311669.8 - 7 1216 c.1123C>T c.(1123-1125)Ctc>Ttc p.L375F ADPGK_ENST00000456471.2_Missense_Mutation_p.L101F NM_031284.4 NP_112574.3 Q9BRR6 ADPGK_HUMAN ADP-dependent glucokinase 376 ADPK. glycolysis extracellular region ADP-specific glucokinase activity|metal ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1) 7 ATCCTGGTGAGATCCGAGGCT 0.552000 11 57 0 0 0.00185496 0 0 FAM50B 26240 broad.mit.edu 37 6 3850540 3850540 + Silent SNP C C G TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr6:3850540C>G ENST00000380274.1 + 1 921 c.495C>G c.(493-495)ctC>ctG p.L165L FAM50B_ENST00000380272.3_Silent_p.L165L Q9Y247 FA50B_HUMAN family with sequence similarity 50, member B 165 nucleus cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3) 17 Ovarian(93;0.0925) all_hematologic(90;0.108) AGAACCGGCTCCGAGAGGAGC 0.687000 6 47 0 0 0.00116845 0 0 TNXB 7148 broad.mit.edu 37 6 32037543 32037543 + Missense_Mutation SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr6:32037543C>T ENST00000375244.3 - 15 5575 c.5374G>A c.(5374-5376)Gtg>Atg p.V1792M TNXB_ENST00000375247.2_Missense_Mutation_p.V1792M P22105 TENX_HUMAN tenascin XB 1874 Fibronectin type-III 10. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GAGAGGCCCACGGAGTTCTGG 0.622000 8 22 0 0 0.000274275 0 0 OXSR1 9943 broad.mit.edu 37 3 38292947 38292947 + Missense_Mutation SNP A A G TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr3:38292947A>G ENST00000311806.3 + 16 1801 c.1429A>G c.(1429-1431)Agg>Ggg p.R477G NM_005109.2 NP_005100.1 O95747 OXSR1_HUMAN oxidative stress responsive 1 477 intracellular protein kinase cascade|response to oxidative stress ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) GGTCGACGGAAGGGATTTAGT 0.458000 6 230 0 0 0.00198382 0 0 LAMA1 284217 broad.mit.edu 37 18 6943285 6943285 + Missense_Mutation SNP G G C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr18:6943285G>C ENST00000389658.3 - 62 9054 c.8961C>G c.(8959-8961)caC>caG p.H2987Q NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2987 Laminin G-like 5. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAGTGATACGGTGTTTGCTTT 0.493000 5 137 0 0 0.00198382 0 0 FAM120B 84498 broad.mit.edu 37 6 170639606 170639606 + Missense_Mutation SNP A A T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr6:170639606A>T ENST00000476287.1 + 4 2093 c.1985A>T c.(1984-1986)gAc>gTc p.D662V FAM120B_ENST00000537664.1_Missense_Mutation_p.D685V|FAM120B_ENST00000540480.1_Missense_Mutation_p.D674V|FAM120B_ENST00000252510.9_5'UTR NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B 662 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) AGGCACCCGGACCTCGTCAGG 0.483000 9 83 0 0 0.000978159 0 0 NGB 58157 broad.mit.edu 37 14 77737232 77737232 + Missense_Mutation SNP T T C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr14:77737232T>C ENST00000298352.4 - 1 423 c.49A>G c.(49-51)Agc>Ggc p.S17G NM_021257.3 NP_067080.1 Q9NPG2 NGB_HUMAN neuroglobin 17 Globin. hemoglobin complex heme binding|oxygen binding|oxygen transporter activity endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 8 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0273) GGGCTGCGGCTCACTGCCCGC 0.746000 2 5 0 0 6.4e-05 0 0 RP11-640M9.2 0 broad.mit.edu 37 1 144598726 144598726 + RNA SNP A A C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr1:144598726A>C ENST00000419820.1 + 0 654 CATTCGGTGCACCAAGAGCAA 0.572000 4 28 0 0 0.000602214 0 0 KMT2C 58508 broad.mit.edu 37 7 151879331 151879331 + Nonsense_Mutation SNP G G A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr7:151879331G>A ENST00000355193.2 - 36 5832 c.5614C>T c.(5614-5616)Cag>Tag p.Q1872* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q1872* lysine (K)-specific methyltransferase 2C TGAGAAGTCTGAGCCTGAGAA 0.512000 27 122 0 0 0.00395357 0 0 FCRL3 115352 broad.mit.edu 37 1 157648602 157648602 + Silent SNP G G A rs148976786 byFrequency TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr1:157648602G>A ENST00000368184.3 - 15 2394 c.2103C>T c.(2101-2103)gaC>gaT p.D701D FCRL3_ENST00000368186.5_Silent_p.D701D|FCRL3_ENST00000473231.1_5'UTR NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 701 integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) CTGCAGAGTCGTCTGGGTGTG 0.468000 8 51 0 0 0.00307968 0 0 CD46 4179 broad.mit.edu 37 1 207940420 207940420 + Missense_Mutation SNP T T A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr1:207940420T>A ENST00000358170.2 + 6 892 c.736T>A c.(736-738)Ttt>Att p.F246I CD46_ENST00000322918.5_Missense_Mutation_p.F246I|CD46_ENST00000367047.1_Missense_Mutation_p.F183I|CD46_ENST00000367042.1_Missense_Mutation_p.F246I|CD46_ENST00000367041.1_Missense_Mutation_p.F246I|CD46_ENST00000322875.4_Missense_Mutation_p.F246I|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000441839.2_Missense_Mutation_p.F246I|CD46_ENST00000354848.1_Missense_Mutation_p.F246I|CD46_ENST00000360212.2_Missense_Mutation_p.F246I|CD46_ENST00000361067.1_Missense_Mutation_p.F246I|CD46_ENST00000480003.1_Missense_Mutation_p.F246I|CD46_ENST00000357714.1_Missense_Mutation_p.F246I NM_002389.4 NP_002380.3 P15529 MCP_HUMAN CD46 molecule, complement regulatory protein 246 Sushi 4. complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization inner acrosomal membrane|integral to plasma membrane protein binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 19 TGGAAAAAAATTTTACTACAA 0.378000 10 45 0 0 0.000673444 0 0 LONRF2 164832 broad.mit.edu 37 2 100916210 100916210 + Missense_Mutation SNP G G C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr2:100916210G>C ENST00000393437.3 - 5 1875 c.1236C>G c.(1234-1236)gaC>gaG p.D412E LONRF2_ENST00000409647.1_Missense_Mutation_p.D169E NM_198461.3 NP_940863.3 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 2 412 proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 GGGCGTTCAGGTCAGGTGCAT 0.448000 9 94 0 0 0.000673444 0 0 ZNF576 79177 broad.mit.edu 37 19 44103213 44103213 + Missense_Mutation SNP A A C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr19:44103213A>C ENST00000336564.4 + 3 470 c.316A>C c.(316-318)Act>Cct p.T106P ZNF576_ENST00000533118.1_Missense_Mutation_p.T106P|ZNF576_ENST00000528387.1_Missense_Mutation_p.T106P|SRRM5_ENST00000607544.1_Intron|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000529930.1_Missense_Mutation_p.T106P|ZNF576_ENST00000525771.1_Missense_Mutation_p.T106P|ZNF576_ENST00000391965.2_Missense_Mutation_p.T106P NM_001145347.1 NP_001138819.1 Q9H609 ZN576_HUMAN zinc finger protein 576 106 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|prostate(1) 2 Prostate(69;0.0199) GGTTGCAACCACTACTGCCCA 0.652000 9 97 0 0 0.000274275 0 0 NPBWR2 2832 broad.mit.edu 37 20 62737951 62737951 + Silent SNP C C T rs142068571 TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr20:62737951C>T ENST00000369768.1 - 1 573 c.234G>A c.(232-234)acG>acA p.T78T NM_005286.2 NP_005277.2 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 78 plasma membrane opioid receptor activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) CGTTGGTCACCGTCTTCATCT 0.617000 4 17 0 0 0.00024832 0 0 AGAP3 116988 broad.mit.edu 37 7 150839292 150839292 + Missense_Mutation SNP G G A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr7:150839292G>A ENST00000397238.2 + 15 2002 c.2002G>A c.(2002-2004)Gtc>Atc p.V668I AGAP3_ENST00000463381.1_Missense_Mutation_p.V337I NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 632 Arf-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 TGTGCAGGCCGTCCGCACCGT 0.622000 42 202 0 0 0.00361006 0 0 SORCS2 57537 broad.mit.edu 37 4 7684513 7684513 + Missense_Mutation SNP A A T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr4:7684513A>T ENST00000507866.2 + 10 1494 c.1385A>T c.(1384-1386)gAt>gTt p.D462V SORCS2_ENST00000329016.9_Missense_Mutation_p.D290V NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 462 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 CAAAAAATTGATGGGAAAGTG 0.468000 7 25 0 0 0.00198382 0 0 ATL3 25923 broad.mit.edu 37 11 63398754 63398754 + Missense_Mutation SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr11:63398754C>T ENST00000398868.3 - 12 1573 c.1297G>A c.(1297-1299)Ggt>Agt p.G433S ATL3_ENST00000538786.1_Missense_Mutation_p.G415S|ATL3_ENST00000332645.4_Missense_Mutation_p.G460S NM_015459.3 NP_056274.3 Q6DD88 ATLA3_HUMAN atlastin GTPase 3 433 endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 11 TTCTTGCTACCATTGTGCTTG 0.493000 5 95 0 0 0.00116845 0 0 DDX60L 91351 broad.mit.edu 37 4 169337892 169337892 + Missense_Mutation SNP A A C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr4:169337892A>C ENST00000511577.1 - 20 2914 c.2667T>G c.(2665-2667)atT>atG p.I889M DDX60L_ENST00000260184.7_Missense_Mutation_p.I889M|DDX60L_ENST00000505890.1_Missense_Mutation_p.I889M Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 889 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) GACATCGAATAATGACAAGGA 0.358000 15 84 0 0 0.000566183 0 0 CP 1356 broad.mit.edu 37 3 148896263 148896263 + Silent SNP A A G TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr3:148896263A>G ENST00000264613.6 - 16 3079 c.2817T>C c.(2815-2817)tcT>tcC p.S939S NM_000096.3 NP_000087.1 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 939 F5/8 type A 3.|Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) CGGGGTGATCAGAGTATGTTT 0.323000 6 94 0 0 0.00198382 0 0 DIS3 22894 broad.mit.edu 37 13 73347832 73347832 + Missense_Mutation SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr13:73347832C>T ENST00000377767.4 - 8 1329 c.1229G>A c.(1228-1230)aGa>aAa p.R410K DIS3_ENST00000377780.4_Missense_Mutation_p.R380K|DIS3_ENST00000545453.1_Missense_Mutation_p.R248K NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 410 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) ATTTGGATATCTGGAATTTCT 0.323000 Multiple Myeloma(4;0.011) 10 42 0 0 0.000442599 0 0 HELB 92797 broad.mit.edu 37 12 66698883 66698883 + Missense_Mutation SNP A A G TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr12:66698883A>G ENST00000247815.4 + 2 619 c.560A>G c.(559-561)gAa>gGa p.E187G NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 187 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) AATGGTCAGGAAGAGTTGTTC 0.353000 10 72 0 0 0.000673444 0 0 GJA8 2703 broad.mit.edu 37 1 147380335 147380335 + Missense_Mutation SNP G G A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr1:147380335G>A ENST00000240986.4 + 2 306 c.253G>A c.(253-255)Gtc>Atc p.V85I GJA8_ENST00000369235.1_Missense_Mutation_p.V85I NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 85 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) GATCATCTTCGTCTCCACCCC 0.637000 10 80 0 0 0.00136819 0 0 KLF4 9314 broad.mit.edu 37 9 110250242 110250242 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr9:110250242G>T ENST00000374672.4 - 3 906 c.433C>A c.(433-435)Ccc>Acc p.P145T NM_004235.4 NP_004226.3 O43474 KLF4_HUMAN Kruppel-like factor 4 (gut) 145 Ser-rich. fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2) 16 CAGGTGGAGGGCGCGCTGGCA 0.721000 3 11 0.00024832 0.00139733 0.00024832 1 0 FAM120B 84498 broad.mit.edu 37 6 170639605 170639605 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr6:170639605G>T ENST00000476287.1 + 4 2092 c.1984G>T c.(1984-1986)Gac>Tac p.D662Y FAM120B_ENST00000537664.1_Missense_Mutation_p.D685Y|FAM120B_ENST00000540480.1_Missense_Mutation_p.D674Y|FAM120B_ENST00000252510.9_5'UTR NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B 662 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) GAGGCACCCGGACCTCGTCAG 0.483000 9 83 5.16669e-11 3.1188e-10 0.000978159 1 0 FAM196A 642938 broad.mit.edu 37 10 128973908 128973908 + Missense_Mutation SNP G G A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr10:128973908G>A ENST00000522781.1 - 4 1307 c.752C>T c.(751-753)aCg>aTg p.T251M DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.T251M NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 251 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 GGCAACCTCCGTTTTAAACAC 0.657000 6 41 0 0 0.00116845 0 0 MAGOH 4116 broad.mit.edu 37 1 53692751 53692752 + Frame_Shift_Del DEL AG AG - TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr1:53692751_53692752delAG ENST00000371470.3 - 5 567_568 c.406_407delCT c.(406-408)tfs p.L136fs MAGOH_ENST00000371466.4_Frame_Shift_Del_p.L99fs NM_002370.3 NP_002361.1 P61326 MGN_HUMAN mago-nashi homolog, proliferation-associated (Drosophila) 136 mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1) 6 TAATCCAATAAGACTGAAGACC 0.376 8 34 --- --- --- --- MRPS25 64432 broad.mit.edu 37 3 15094107 15094108 + Frame_Shift_Ins INS - - T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr3:15094107_15094108insT ENST00000253686.2 - 4 502_503 c.362_363insA c.(361-363)acafs p.T121fs MRPS25_ENST00000449354.2_Intron|MRPS25_ENST00000444840.2_Frame_Shift_Ins_p.Q92fs NM_022497.3 NP_071942.1 P82663 RT25_HUMAN mitochondrial ribosomal protein S25 121 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome large_intestine(1)|lung(1) 2 GAGAAAGCTGCTTTTTCTCCTC 0.579 16 261 --- --- --- --- CDH9 1007 broad.mit.edu 37 5 26886127 26886127 + Frame_Shift_Del DEL T T - TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr5:26886127delT ENST00000231021.4 - 10 1750 c.1578delA c.(1576-1578)gafs p.E526fs NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 526 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 CTGGCACTGGTTCAAAAAAGA 0.313 33 171 --- --- --- --- STAG3L2 0 broad.mit.edu 37 7 74306378 74306378 + RNA DEL C C - TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr7:74306378delC ENST00000423186.1 - 0 296 P0CL84 ST3L2_HUMAN nucleus binding breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 GGGCGGGGGGCCCCGCGCTCC 0.731 4 5 --- --- --- --- DUSP13 0 broad.mit.edu 37 10 76855428 76855429 + Frame_Shift_Ins INS - - AA TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr10:76855428_76855429insAA ENST00000491677.2 - 7 1227_1228 c.685_686insTT c.(685-687)tggfs p.W229fs DUSP13_ENST00000472493.2_Frame_Shift_Ins_p.W100fs|DUSP13_ENST00000372700.3_Frame_Shift_Ins_p.W150fs|DUSP13_ENST00000605915.1_Frame_Shift_Ins_p.W122fs|DUSP13_ENST00000478873.2_Frame_Shift_Ins_p.W236fs|DUSP13_ENST00000607131.1_Frame_Shift_Ins_p.W193fs|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000464872.1_Intron NM_001007271.1 NP_001007272.1 Q6B8I1 MDSP_HUMAN dual specificity phosphatase 13 91 cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 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) CTCGATGCCATAGTACTCCAGG 0.559 35 178 --- --- --- --- TRAV9-2 0 broad.mit.edu 37 14 22409533 22409539 + RNA DEL CTCTCTC CTCTCTC - rs57759840 TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr14:22409533_22409539delCTCTCTC ENST00000390441.2 + 0 102 ctctctctctctctctctTTTTTTTTT 0.415 5 3 --- --- --- --- CEP112 201134 broad.mit.edu 37 17 63739297 63739297 + Frame_Shift_Del DEL T T - TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr17:63739297delT ENST00000392769.2 - 23 2714 c.2496delA c.(2494-2496)aafs p.K832fs CEP112_ENST00000541355.1_Intron|CEP112_ENST00000537949.1_Frame_Shift_Del_p.K790fs|CEP112_ENST00000535342.2_Frame_Shift_Del_p.K832fs|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000317442.8_Frame_Shift_Del_p.K88fs NM_145036.3 NP_659473.2 Q8N8E3 CE112_HUMAN centrosomal protein 112kDa 832 centrosome NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 28 TGTTCTCTTCTTTCAGAGAGG 0.408 40 152 --- --- --- --- PRAMEF22 653606 broad.mit.edu 37 1 13036267 13036267 + Frame_Shift_Del DEL T T - TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr1:13036267delT ENST00000376187.1 + 2 339 c.339delT c.(337-339)aafs p.N113fs PRAMEF6_ENST00000376192.5_Intron NM_001100631.1 NP_001094101.1 A3QJZ6 PRA22_HUMAN PRAME family member 22 113 kidney(1)|large_intestine(2)|lung(1)|skin(1) 5 TTGATGAGAATTTTTGGACCA 0.537 7 359 --- --- --- --- MAGOH 4116 broad.mit.edu 37 1 53692751 53692752 + Frame_Shift_Del DEL AG AG - TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr1:53692751_53692752delAG ENST00000371470.3 - 5 567_568 c.406_407delCT c.(406-408)tfs p.L136fs MAGOH_ENST00000371466.4_Frame_Shift_Del_p.L99fs NM_002370.3 NP_002361.1 P61326 MGN_HUMAN mago-nashi homolog, proliferation-associated (Drosophila) 136 mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1) 6 TAATCCAATAAGACTGAAGACC 0.376 8 34 --- --- --- --- MRPS25 64432 broad.mit.edu 37 3 15094107 15094108 + Frame_Shift_Ins INS - - T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr3:15094107_15094108insT ENST00000253686.2 - 4 502_503 c.362_363insA c.(361-363)acafs p.T121fs MRPS25_ENST00000449354.2_Intron|MRPS25_ENST00000444840.2_Frame_Shift_Ins_p.Q92fs NM_022497.3 NP_071942.1 P82663 RT25_HUMAN mitochondrial ribosomal protein S25 121 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome large_intestine(1)|lung(1) 2 GAGAAAGCTGCTTTTTCTCCTC 0.579 16 261 --- --- --- --- CDH9 1007 broad.mit.edu 37 5 26886127 26886127 + Frame_Shift_Del DEL T T - TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr5:26886127delT ENST00000231021.4 - 10 1750 c.1578delA c.(1576-1578)gafs p.E526fs NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 526 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 CTGGCACTGGTTCAAAAAAGA 0.313 33 171 --- --- --- --- C8orf59 401466 broad.mit.edu 37 8 86129664 86129664 + Frame_Shift_Del DEL T T - TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr8:86129664delT ENST00000417663.2 - 2 136 c.65delA c.(64-66)acfs p.N22fs C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1 NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1 Q8N0T1 CH059_HUMAN chromosome 8 open reading frame 59 22 AGCCTTAAAGTTTTTTTGGCT 0.343 8 276 --- --- --- --- DUSP13 0 broad.mit.edu 37 10 76855428 76855429 + Frame_Shift_Ins INS - - AA TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr10:76855428_76855429insAA ENST00000491677.2 - 7 1227_1228 c.685_686insTT c.(685-687)tggfs p.W229fs DUSP13_ENST00000464872.1_Intron|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000605915.1_Frame_Shift_Ins_p.W122fs|DUSP13_ENST00000372700.3_Frame_Shift_Ins_p.W150fs|DUSP13_ENST00000607131.1_Frame_Shift_Ins_p.W193fs|DUSP13_ENST00000478873.2_Frame_Shift_Ins_p.W236fs|DUSP13_ENST00000472493.2_Frame_Shift_Ins_p.W100fs NM_001007271.1 NP_001007272.1 Q6B8I1 MDSP_HUMAN dual specificity phosphatase 13 91 cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 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) CTCGATGCCATAGTACTCCAGG 0.559 35 178 --- --- --- --- CEP112 201134 broad.mit.edu 37 17 63739297 63739297 + Frame_Shift_Del DEL T T - TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 a4dd9f7b-e2a7-40f3-8e19-667f7fd42150 g.chr17:63739297delT ENST00000392769.2 - 23 2714 c.2496delA c.(2494-2496)aafs p.K832fs CEP112_ENST00000541355.1_Intron|CEP112_ENST00000535342.2_Frame_Shift_Del_p.K832fs|CEP112_ENST00000537949.1_Frame_Shift_Del_p.K790fs|CEP112_ENST00000317442.8_Frame_Shift_Del_p.K88fs|CEP112_ENST00000580482.1_5'UTR NM_145036.3 NP_659473.2 Q8N8E3 CE112_HUMAN centrosomal protein 112kDa 832 centrosome NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 28 TGTTCTCTTCTTTCAGAGAGG 0.408 40 152 --- --- --- ---