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 BSX 390259 broad.mit.edu 37 11 122850040 122850040 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr11:122850040C>T ENST00000343035.2 - 2 436 c.388G>A c.(388-390)Gag>Aag p.E130K NM_001098169.1 NP_001091639.1 Q3C1V8 BSH_HUMAN brain-specific homeobox 130 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 10 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) CGCTGGATCTCGAACCTCTTC 0.682000 10 98 0 0 0.335167 0 0 PGD 5226 broad.mit.edu 37 1 10477152 10477152 + Nonsense_Mutation SNP C C G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr1:10477152C>G ENST00000538557.1 + 9 1158 c.914C>G c.(913-915)tCa>tGa p.S305* PGD_ENST00000541529.1_Nonsense_Mutation_p.S296*|PGD_ENST00000270776.8_Nonsense_Mutation_p.S318*|PGD_ENST00000498356.1_3'UTR P52209 6PGD_HUMAN phosphogluconate dehydrogenase 318 pentose-phosphate shunt, oxidative branch cytosol NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 14 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) GATAAGAAATCATTCCTGGAG 0.517000 12 57 0 0 0.387290 0 0 PIM1 5292 broad.mit.edu 37 6 37140900 37140900 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr6:37140900G>A ENST00000373509.5 + 5 1109 c.736G>A c.(736-738)Gaa>Aaa p.E246K PIM1_ENST00000468243.1_3'UTR NM_001243186.1|NM_002648.3 NP_001230115.1|NP_002639.1 P11309 PIM1_HUMAN pim-1 oncogene 337 Protein kinase. cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation cytoplasm|nucleus|plasma membrane ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(102;0.241) Adenosine monophosphate(DB00131) CGAGCATGACGAAGAGATCAT 0.532000 T BCL6 NHL 11 57 0 0 0.387290 0 0 LONRF2 164832 broad.mit.edu 37 2 100919411 100919411 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr2:100919411C>T ENST00000393437.3 - 3 1532 c.893G>A c.(892-894)tGt>tAt p.C298Y LONRF2_ENST00000409647.1_Missense_Mutation_p.C55Y NM_198461.3 NP_940863.3 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 2 298 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 CACAGAGTTACATTCAGGATT 0.403000 26 65 0 0 0.667858 0 0 TYMP 1890 broad.mit.edu 37 22 50967607 50967607 + Silent SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr22:50967607G>A ENST00000252029.3 - 3 537 c.375C>T c.(373-375)gtC>gtT p.V125V TYMP_ENST00000395681.1_Silent_p.V125V|TYMP_ENST00000395678.3_Silent_p.V125V|TYMP_ENST00000395680.1_Silent_p.V125V NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4 NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1 P19971 TYPH_HUMAN thymidine phosphorylase 125 angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process cytosol growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity large_intestine(1)|lung(2)|ovary(1)|prostate(1) 5 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675) GGACCAGGCTGACCTTGTCAC 0.637000 5 52 0 0 0.184627 0 0 TMTC2 160335 broad.mit.edu 37 12 83359465 83359465 + Missense_Mutation SNP C C G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr12:83359465C>G ENST00000549919.1 + 7 3598 c.1793C>G c.(1792-1794)tCt>tGt p.S598C TMTC2_ENST00000548305.1_Missense_Mutation_p.S604C|TMTC2_ENST00000321196.3_Missense_Mutation_p.S604C Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 604 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 CACAAGAGCTCTGTTACCAGT 0.488000 4 71 0 0 0.150653 0 0 DLG2 1740 broad.mit.edu 37 11 83770508 83770508 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr11:83770508G>A ENST00000398309.2 - 6 924 c.454C>T c.(454-456)Cgg>Tgg p.R152W DLG2_ENST00000398301.2_Missense_Mutation_p.R191W|DLG2_ENST00000531015.1_Missense_Mutation_p.R119W|DLG2_ENST00000418306.2_Missense_Mutation_p.R101W|DLG2_ENST00000543673.1_Missense_Mutation_p.R257W|DLG2_ENST00000280241.8_Missense_Mutation_p.R191W|DLG2_ENST00000330014.6_Missense_Mutation_p.R91W|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000376104.2_Missense_Mutation_p.R257W|DLG2_ENST00000532653.1_Missense_Mutation_p.R152W|DLG2_ENST00000524982.1_Missense_Mutation_p.R152W NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 152 PDZ 1. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TCATTCACCCGCAAGATACAA 0.443000 3 22 0 0 0.217242 0 0 PDHA2 5161 broad.mit.edu 37 4 96762253 96762253 + Missense_Mutation SNP C C G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr4:96762253C>G ENST00000295266.4 + 1 1015 c.952C>G c.(952-954)Ctc>Gtc p.L318V NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 318 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) TATAATAATTCTCCAAGATAG 0.423000 11 42 0 0 0.361761 0 0 ZNF154 7710 broad.mit.edu 37 19 58213789 58213789 + Silent SNP G G C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr19:58213789G>C ENST00000512439.2 - 3 724 c.528C>G c.(526-528)ctC>ctG p.L176L AC003006.7_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Silent_p.L176L|AC003006.7_ENST00000599221.1_Intron Q13106 ZN154_HUMAN zinc finger protein 154 176 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(3) 12 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AATGGTCATTGAGACTGTAGC 0.453000 19 111 0 0 0.592651 0 0 ZIM2 23619 broad.mit.edu 37 19 57286846 57286846 + Missense_Mutation SNP A A C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr19:57286846A>C ENST00000391708.3 - 12 1336 c.794T>G c.(793-795)cTt>cGt p.L265R AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.L265R|ZIM2_ENST00000593711.1_Missense_Mutation_p.L265R|ZIM2_ENST00000221722.5_Missense_Mutation_p.L265R|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.L265R NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 zinc finger, imprinted 2 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) AGGAGTCAAAAGTTTCTCTTG 0.443000 12 45 0 0 0.457914 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303808 151303808 + Silent SNP C C T rs139926957 byFrequency TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chrX:151303808C>T ENST00000370323.4 - 4 601 c.285G>A c.(283-285)tcG>tcA p.S95S RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Silent_p.S95S NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 95 endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) AAGCAACGACCGAGGGGGAGG 0.542000 15 264 0 0 0.479597 0 0 RAB11FIP4 84440 broad.mit.edu 37 17 29855551 29855551 + Missense_Mutation SNP C C A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr17:29855551C>A ENST00000325874.8 + 12 1713 c.1484C>A c.(1483-1485)gCg>gAg p.A495E RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.A393E NM_032932.3 NP_116321.2 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) 495 Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) GAGCGGGAGGCGACGCAGGAG 0.612000 3 50 0.150653 0.152676 0.150653 1 0 WSCD2 9671 broad.mit.edu 37 12 108634156 108634156 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr12:108634156C>T ENST00000332082.4 + 9 1998 c.1180C>T c.(1180-1182)Cgg>Tgg p.R394W WSCD2_ENST00000261400.3_Missense_Mutation_p.R394W|WSCD2_ENST00000549903.1_Missense_Mutation_p.R394W|WSCD2_ENST00000547525.1_Missense_Mutation_p.R394W Q2TBF2 WSCD2_HUMAN WSC domain containing 2 394 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 GCGCAGCGGACGGACCATCTG 0.617000 12 147 0 0 0.435327 0 0 CYSLTR1 10800 broad.mit.edu 37 X 77529009 77529009 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chrX:77529009G>A ENST00000373304.3 - 3 527 c.235C>T c.(235-237)Cgt>Tgt p.R79C NM_006639.2 NP_006630.1 Q9Y271 CLTR1_HUMAN cysteinyl leukotriene receptor 1 79 elevation of cytosolic calcium ion concentration|respiratory gaseous exchange integral to plasma membrane|membrane fraction leukotriene receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549) TAGACCACACGGAGAGGCAGT 0.423000 7 54 0 0 0.248553 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 3 39 0 0 0.115264 0 0 RASGRP1 10125 broad.mit.edu 37 15 38805096 38805096 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr15:38805096C>T ENST00000310803.5 - 7 914 c.737G>A c.(736-738)cGa>cAa p.R246Q RASGRP1_ENST00000559830.1_Missense_Mutation_p.R246Q|RASGRP1_ENST00000539159.1_Missense_Mutation_p.R198Q|RASGRP1_ENST00000561180.1_Missense_Mutation_p.R297Q|RASGRP1_ENST00000558164.1_Missense_Mutation_p.R246Q|RASGRP1_ENST00000450598.2_Missense_Mutation_p.R246Q NM_001128602.1|NM_005739.3 NP_001122074.1|NP_005730.2 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 (calcium and DAG-regulated) 246 Ras-GEF. cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding p.R246Q(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) AGCAATAGATCGCTCCATGGT 0.468000 3 18 0 0 0.115264 0 0 ZNF665 79788 broad.mit.edu 37 19 53669070 53669070 + Nonsense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr19:53669070G>A ENST00000600412.1 - 2 593 c.478C>T c.(478-480)Cag>Tag p.Q160* ZNF665_ENST00000396424.3_Nonsense_Mutation_p.Q225* Q9H7R5 ZN665_HUMAN zinc finger protein 665 160 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) TGGATGACCTGATGGATTGTT 0.403000 7 69 0 0 0.278610 0 0 HNF1B 6928 broad.mit.edu 37 17 36091644 36091644 + Silent SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr17:36091644C>T ENST00000225893.4 - 4 1348 c.987G>A c.(985-987)ctG>ctA p.L329L HNF1B_ENST00000561193.1_Silent_p.L303L|HNF1B_ENST00000560016.1_Silent_p.L329L|HNF1B_ENST00000427275.2_Silent_p.L303L NM_000458.2|NM_001165923.1 NP_000449.1|NP_001159395.1 P35680 HNF1B_HUMAN HNF1 homeobox B 329 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) CGTGGGAGAGCAGAGGGTTCA 0.587000 5 25 0 0 0.184627 0 0 UGT2A3 79799 broad.mit.edu 37 4 69795796 69795796 + Missense_Mutation SNP G G T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr4:69795796G>T ENST00000251566.4 - 6 1349 c.1319C>A c.(1318-1320)gCt>gAt p.A440D UGT2A3_ENST00000420231.2_Missense_Mutation_p.A151D NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 440 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TAATCTCATAGCATTCTCTTT 0.383000 8 48 0.000157383 0.000168545 0.278610 1 0 ABCA1 19 broad.mit.edu 37 9 107558478 107558478 + Splice_Site SNP C C G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr9:107558478C>G ENST00000374736.3 - 39 5632 c.5237_splice c.e39-1 p.G1746_splice NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 1746 Missing (in Ref. 7; AAD49852). Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TGATTGACCACCTGTTGAGAC 0.512000 24 25 0 0 0.667858 0 0 GDPD4 220032 broad.mit.edu 37 11 76969569 76969569 + Silent SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr11:76969569G>A ENST00000315938.4 - 10 976 c.726C>T c.(724-726)ttC>ttT p.F242F GDPD4_ENST00000376217.2_Silent_p.F242F NM_182833.1 NP_878253.1 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain containing 4 242 GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 20 CATGCATGAGGAAAGGCACAT 0.478000 30 109 0 0 0.729181 0 0 FAT1 2195 broad.mit.edu 37 4 187630504 187630504 + Nonsense_Mutation SNP C C A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr4:187630504C>A ENST00000441802.2 - 2 687 c.478G>T c.(478-480)Gaa>Taa p.E160* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 160 Cadherin 2. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GCTGTGTTTTCAGGTAAAGAA 0.463000 HNSCC(5;0.00058) 24 137 7.87624e-14 8.9422e-14 0.639603 1 0 DSCAML1 57453 broad.mit.edu 37 11 117335712 117335712 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr11:117335712G>A ENST00000321322.6 - 17 3392 c.3391C>T c.(3391-3393)Cgg>Tgg p.R1131W DSCAML1_ENST00000527706.1_Missense_Mutation_p.R861W NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1071 Fibronectin type-III 3. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GTGCCAGCCCGATTGAAGGCT 0.617000 18 62 0 0 0.520397 0 0 LRFN5 145581 broad.mit.edu 37 14 42356945 42356945 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr14:42356945C>T ENST00000554171.1 + 5 3549 c.1117C>T c.(1117-1119)Cat>Tat p.H373Y LRFN5_ENST00000554120.1_Missense_Mutation_p.H373Y|LRFN5_ENST00000298119.4_Missense_Mutation_p.H373Y Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 373 Ig-like. integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) AGTGGATCTTCATATAATTAA 0.403000 HNSCC(30;0.082) 11 54 0 0 0.361761 0 0 PABPC4 8761 broad.mit.edu 37 1 40034595 40034595 + Missense_Mutation SNP T T C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr1:40034595T>C ENST00000372857.3 - 6 1547 c.755A>G c.(754-756)aAt>aGt p.N252S PABPC4_ENST00000372858.3_Missense_Mutation_p.N252S|PABPC4_ENST00000529216.1_5'UTR|PABPC4_ENST00000372862.3_Missense_Mutation_p.N252S|PABPC4_ENST00000372856.3_Missense_Mutation_p.N252S|RP11-69E11.8_ENST00000415255.1_RNA NM_003819.3 NP_003810.1 Q13310 PABP4_HUMAN poly(A) binding protein, cytoplasmic 4 (inducible form) 252 RRM 3. blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3) 21 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TTCTTTTCCATTCATCTCTTC 0.368000 19 85 0 0 0.539581 0 0 GPC5 2262 broad.mit.edu 37 13 92345977 92345977 + Missense_Mutation SNP C C A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr13:92345977C>A ENST00000377067.3 + 3 1234 c.862C>A c.(862-864)Ctt>Att p.L288I NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 288 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) CATGGCGGAGCTTAATCCACA 0.532000 7 61 0.00307968 0.00325197 0.278610 1 0 CYP11B2 1585 broad.mit.edu 37 8 143999037 143999037 + Missense_Mutation SNP C C G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr8:143999037C>G ENST00000323110.2 - 1 222 c.220G>C c.(220-222)Gag>Cag p.E74Q NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 74 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GGCCCCAGCTCCTGGAAGGTC 0.637000 Familial Hyperaldosteronism type I 12 58 0 0 0.387290 0 0 ZNF18 7566 broad.mit.edu 37 17 11895781 11895781 + Missense_Mutation SNP G G T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr17:11895781G>T ENST00000322748.3 - 4 970 c.366C>A c.(364-366)gaC>gaA p.D122E ZNF18_ENST00000580613.1_Missense_Mutation_p.D71E|ZNF18_ENST00000454073.3_Missense_Mutation_p.D122E|ZNF18_ENST00000580306.1_Missense_Mutation_p.D122E NM_144680.2 NP_653281.2 P17022 ZNF18_HUMAN zinc finger protein 18 122 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4) 14 Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233) GTCTCTGGGGGTCCCCCTTCA 0.537000 8 57 5.18039e-06 5.70977e-06 0.278610 1 0 IRGC 56269 broad.mit.edu 37 19 44223209 44223209 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr19:44223209C>T ENST00000244314.5 + 2 698 c.499C>T c.(499-501)Cgc>Tgc p.R167C NM_019612.3 NP_062558.1 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 167 membrane GTP binding|hydrolase activity, acting on acid anhydrides central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) CTACTTTGTGCGCACCAAGGT 0.672000 3 32 0 0 0.115264 0 0 LRRC31 79782 broad.mit.edu 37 3 169557902 169557902 + Silent SNP C C G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr3:169557902C>G ENST00000316428.5 - 9 1584 c.1527G>C c.(1525-1527)gtG>gtC p.V509V LRRC31_ENST00000264676.5_Silent_p.V453V|LRRC31_ENST00000523069.1_3'UTR NM_001277127.1|NM_024727.2 NP_001264056.1|NP_079003.2 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 509 cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) GAAGCTTGGTCACAGCATATA 0.413000 13 85 0 0 0.435327 0 0 ABCG4 64137 broad.mit.edu 37 11 119029006 119029006 + Silent SNP C C G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr11:119029006C>G ENST00000307417.3 + 10 1495 c.1131C>G c.(1129-1131)ctC>ctG p.L377L ABCG4_ENST00000449422.2_Silent_p.L377L|ABCG4_ENST00000531739.1_Silent_p.L377L NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 377 cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) TCTGCATCCTCTTCAAGAGGA 0.572000 42 315 0 0 0.847076 0 0 DOPEY2 9980 broad.mit.edu 37 21 37652617 37652617 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr21:37652617G>A ENST00000399151.3 + 31 6089 c.6004G>A c.(6004-6006)Gag>Aag p.E2002K NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 2002 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TTTGACTCATGAGAAAACAAT 0.308000 9 30 0 0 0.335167 0 0 SI 6476 broad.mit.edu 37 3 164767620 164767620 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr3:164767620C>T ENST00000264382.3 - 14 1618 c.1556G>A c.(1555-1557)gGa>gAa p.G519E NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 519 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TACATTACATCCTTTTGTTGA 0.284000 HNSCC(35;0.089) 8 52 0 0 0.335167 0 0 ZNF831 128611 broad.mit.edu 37 20 57766526 57766526 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr20:57766526G>A ENST00000371030.2 + 1 452 c.452G>A c.(451-453)cGc>cAc p.R151H NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 151 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CACTGTGGTCGCGACTGCCTG 0.662000 30 105 0 0 0.717897 0 0 CTCFL 140690 broad.mit.edu 37 20 56087700 56087700 + Missense_Mutation SNP T T C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr20:56087700T>C ENST00000429804.2 - 7 1849 c.1289A>G c.(1288-1290)cAt>cGt p.H430R CTCFL_ENST00000502686.2_Missense_Mutation_p.H218R|CTCFL_ENST00000433949.2_Missense_Mutation_p.H480R|CTCFL_ENST00000539382.1_Missense_Mutation_p.H275R|CTCFL_ENST00000371196.2_Missense_Mutation_p.H480R|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000243914.3_Missense_Mutation_p.H480R|CTCFL_ENST00000422869.2_Missense_Mutation_p.H480R|CTCFL_ENST00000423479.2_Missense_Mutation_p.H480R|CTCFL_ENST00000422109.2_Intron NM_001269046.1 NP_001255975.1 Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 480 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CTCATTCTTATGAGTTTTCTG 0.458000 10 64 0 0 0.387290 0 0 TMEM179B 374395 broad.mit.edu 37 11 62556844 62556844 + Missense_Mutation SNP G G A rs146539259 TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr11:62556844G>A ENST00000333449.4 + 3 370 c.365G>A c.(364-366)cGa>cAa p.R122Q TMEM179B_ENST00000533861.1_Missense_Mutation_p.R122Q|TMEM223_ENST00000527073.1_Intron|TMEM223_ENST00000525631.1_Intron NM_199337.2 NP_955369.1 Q7Z7N9 T179B_HUMAN transmembrane protein 179B 122 integral to membrane kidney(1)|large_intestine(1)|liver(1)|lung(1) 4 TGTATCCTTCGATTTGGCACC 0.537000 5 29 0 0 0.217242 0 0 DOK4 55715 broad.mit.edu 37 16 57509069 57509069 + Missense_Mutation SNP C C T rs111834942 byFrequency TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr16:57509069C>T ENST00000566936.1 - 4 649 c.352G>A c.(352-354)Gac>Aac p.D118N DOK4_ENST00000561918.1_5'UTR|DOK4_ENST00000340099.4_Missense_Mutation_p.D118N|DOK4_ENST00000569548.1_Missense_Mutation_p.D118N Q8TEW6 DOK4_HUMAN docking protein 4 118 insulin receptor binding kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2) 6 AGACTGATGTCGTTGAGGCGG 0.612000 21 90 0 0 0.667858 0 0 TIMP1 7076 broad.mit.edu 37 X 47442865 47442865 + Silent SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chrX:47442865G>A ENST00000456754.2 + 2 126 c.51G>A c.(49-51)ctG>ctA p.L17L TIMP1_ENST00000218388.4_Silent_p.L17L|TIMP1_ENST00000377017.1_Intron|SYN1_ENST00000340666.4_Intron|SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000377018.2_5'UTR P01033 TIMP1_HUMAN TIMP metallopeptidase inhibitor 1 17 erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation platelet alpha granule lumen metal ion binding|metalloendopeptidase inhibitor activity|protein binding endometrium(1)|large_intestine(2) 3 TGCTGTGGCTGATAGCCCCCA 0.652000 6 64 0 0 0.217242 0 0 FAM118B 79607 broad.mit.edu 37 11 126126666 126126666 + Missense_Mutation SNP A A G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr11:126126666A>G ENST00000533050.1 + 7 1394 c.901A>G c.(901-903)Atc>Gtc p.I301V FAM118B_ENST00000360194.4_Missense_Mutation_p.I301V NM_024556.3 NP_078832.1 Q9BPY3 F118B_HUMAN family with sequence similarity 118, member B 301 breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1) 13 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784) GATTAAAGTCATCTCCTATGG 0.433000 53 168 0 0 0.870114 0 0 UBE3B 89910 broad.mit.edu 37 12 109972414 109972414 + Missense_Mutation SNP G G T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr12:109972414G>T ENST00000342494.3 + 28 3629 c.3034G>T c.(3034-3036)Ggc>Tgc p.G1012C UBE3B_ENST00000434735.2_Missense_Mutation_p.G1012C NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 1012 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 GGACACTCTGGGCAGCGTCCT 0.652000 12 40 7.03913e-09 7.8155e-09 0.411799 1 0 POLDIP3 84271 broad.mit.edu 37 22 42999092 42999092 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr22:42999092G>A ENST00000252115.5 - 2 238 c.134C>T c.(133-135)aCa>aTa p.T45I POLDIP3_ENST00000348657.2_Missense_Mutation_p.T45I|POLDIP3_ENST00000339677.6_Missense_Mutation_p.T45I NM_032311.3 NP_115687.2 Q9BY77 PDIP3_HUMAN polymerase (DNA-directed), delta interacting protein 3 45 positive regulation of translation cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1) 16 GGCTGTGCGTGTTGACTGGCT 0.527000 5 69 0 0 0.217242 0 0 MFI2 4241 broad.mit.edu 37 3 196735818 196735818 + Missense_Mutation SNP T T C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr3:196735818T>C ENST00000296350.5 - 12 1657 c.1544A>G c.(1543-1545)aAt>aGt p.N515S NM_005929.5 NP_005920.2 P08582 TRFM_HUMAN antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 515 Transferrin-like 2. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) GCAGCTGGCATTGAAGAACTC 0.642000 48 75 0 0 0.870114 0 0 STARD13 90627 broad.mit.edu 37 13 33703846 33703846 + Missense_Mutation SNP A A T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr13:33703846A>T ENST00000336934.5 - 5 1084 c.968T>A c.(967-969)cTc>cAc p.L323H STARD13_ENST00000399365.3_Missense_Mutation_p.L205H|STARD13_ENST00000255486.4_Missense_Mutation_p.L315H NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 323 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) AGAGCATGGGAGCCCTTTTCT 0.597000 4 42 0 0 0.217242 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319815 21319815 + Silent SNP C C T rs144041366 TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr17:21319815C>T ENST00000583088.1 + 3 2056 c.1161C>T c.(1159-1161)gaC>gaT p.D387D KCNJ12_ENST00000331718.5_Silent_p.D387D NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) TGAGCCGTGACGAGGAGGATG 0.662000 Prostate(3;0.18) 4 58 0 0 0.150653 0 0 PDE4A 5141 broad.mit.edu 37 19 10571734 10571734 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr19:10571734G>A ENST00000380702.2 + 12 1354 c.1354G>A c.(1354-1356)Gat>Aat p.D452N PDE4A_ENST00000352831.6_Missense_Mutation_p.D474N|PDE4A_ENST00000293683.5_Missense_Mutation_p.D448N|PDE4A_ENST00000344979.3_Missense_Mutation_p.D235N|PDE4A_ENST00000440014.2_Missense_Mutation_p.D413N|PDE4A_ENST00000592685.1_Missense_Mutation_p.D452N P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 474 Catalytic. signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) TGCCATCCACGATGTGGATCA 0.597000 6 20 0 0 0.217242 0 0 MATN4 8785 broad.mit.edu 37 20 43932984 43932984 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr20:43932984G>A ENST00000537548.1 - 4 771 c.527C>T c.(526-528)gCg>gTg p.A176V MATN4_ENST00000372756.1_Missense_Mutation_p.A176V|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000372754.1_Missense_Mutation_p.A176V|MATN4_ENST00000360607.5_Missense_Mutation_p.A176V|MATN4_ENST00000353917.5_Missense_Mutation_p.A176V|MATN4_ENST00000342716.4_Missense_Mutation_p.A176V O95460 MATN4_HUMAN matrilin 4 176 VWFA 1. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) GCCCACGTCCGCGCGCTGCAC 0.692000 7 36 0 0 0.248553 0 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 3 100 0 0 0.115264 0 0 RALYL 138046 broad.mit.edu 37 8 85799988 85799988 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr8:85799988G>A ENST00000521268.1 + 8 1940 c.835G>A c.(835-837)Gat>Aat p.D279N RALYL_ENST00000522455.1_Missense_Mutation_p.D279N|RALYL_ENST00000518566.1_Missense_Mutation_p.D268N|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000517638.1_Missense_Mutation_p.D292N|RALYL_ENST00000521695.1_Missense_Mutation_p.D279N|RALYL_ENST00000523850.1_Missense_Mutation_p.D206N NM_173848.5 NP_776247.3 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like 279 identical protein binding|nucleotide binding|RNA binding endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 GGAGGACTTCGATGAAGATGG 0.458000 12 72 0 0 0.387290 0 0 FAT4 79633 broad.mit.edu 37 4 126239489 126239489 + Silent SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr4:126239489G>A ENST00000394329.3 + 1 1936 c.1923G>A c.(1921-1923)ttG>ttA p.L641L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 641 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CTGGGAGGTTGAGTACTATTT 0.567000 7 25 0 0 0.248553 0 0 CCDC144NL 339184 broad.mit.edu 37 17 20799105 20799105 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr17:20799105G>A ENST00000327925.5 - 1 348 c.229C>T c.(229-231)Cgc>Tgc p.R77C RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000577537.1_RNA NM_001004306.1 NP_001004306.1 Q6NUI1 C144L_HUMAN coiled-coil domain containing 144 family, N-terminal like 77 large_intestine(3)|lung(3)|skin(1) 7 TCTTCCAGGCGGACATCGTGC 0.642000 15 69 0 0 0.624587 0 0 NCL 4691 broad.mit.edu 37 2 232323778 232323778 + Missense_Mutation SNP T T C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr2:232323778T>C ENST00000322723.4 - 7 1339 c.1099A>G c.(1099-1101)Act>Gct p.T367A NM_005381.2 NP_005372.2 P19338 NUCL_HUMAN nucleolin 367 RRM 1. angiogenesis cell cortex|nucleolus|ribonucleoprotein complex nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3) 35 Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18) TTCAAACCAGTGAGTTCCAAC 0.378000 29 46 0 0 0.769981 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64722774 64722774 + Silent SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chrX:64722774G>A ENST00000338957.4 + 5 2263 c.2196G>A c.(2194-2196)ccG>ccA p.P732P ZC3H12B_ENST00000423889.3_Silent_p.P721P NM_001010888.3 NP_001010888.3 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 721 endonuclease activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCTGGGACCCGCTGCCCTGTA 0.577000 14 27 0 0 0.435327 0 0 ELFN2 114794 broad.mit.edu 37 22 37770765 37770765 + Silent SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr22:37770765G>A ENST00000402918.1 - 3 1595 c.810C>T c.(808-810)gaC>gaT p.D270D RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Silent_p.D270D NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 270 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) CCGAGTTCTCGTCTGGCTCCC 0.687000 9 40 0 0 0.307466 0 0 DLG5 9231 broad.mit.edu 37 10 79555860 79555860 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr10:79555860C>T ENST00000372391.2 - 29 5400 c.5395G>A c.(5395-5397)Gat>Aat p.D1799N DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.D1459N NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1799 Guanylate kinase-like. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) GTGGTCACATCGAAATGGCCG 0.517000 19 52 0 0 0.592651 0 0 TGM5 9333 broad.mit.edu 37 15 43552685 43552685 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr15:43552685G>A ENST00000220420.5 - 2 110 c.103C>T c.(103-105)Cgg>Tgg p.R35W TGM5_ENST00000349114.4_Missense_Mutation_p.R35W NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 35 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) GCCTGGCCCCGGCGAACAAGC 0.572000 18 134 0 0 0.520397 0 0 MDN1 23195 broad.mit.edu 37 6 90368044 90368044 + Missense_Mutation SNP C C G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr6:90368044C>G ENST00000369393.3 - 90 15182 c.15067G>C c.(15067-15069)Gag>Cag p.E5023Q MDN1_ENST00000428876.1_Missense_Mutation_p.E5023Q Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 5023 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TCCAAAGCCTCTGGCACCTGC 0.552000 17 65 0 0 0.575678 0 0 DOCK11 139818 broad.mit.edu 37 X 117699986 117699986 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chrX:117699986C>T ENST00000276204.6 + 8 786 c.712C>T c.(712-714)Cat>Tat p.H238Y DOCK11_ENST00000276202.7_Missense_Mutation_p.H238Y Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 238 PH. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 AATGCGCCGTCATGCTTTTGA 0.333000 20 185 0 0 0.592651 0 0 AHI1 54806 broad.mit.edu 37 6 135769486 135769486 + Missense_Mutation SNP C C G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr6:135769486C>G ENST00000367800.4 - 10 1784 c.1568G>C c.(1567-1569)aGa>aCa p.R523T AHI1_ENST00000457866.2_Missense_Mutation_p.R523T|AHI1_ENST00000327035.6_Missense_Mutation_p.R523T NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 523 adherens junction|cilium|microtubule basal body NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) GTAATGATTTCTTGGACATTT 0.383000 7 32 0 0 0.278610 0 0 TBXAS1 6916 broad.mit.edu 37 7 139661761 139661761 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr7:139661761C>T ENST00000263552.6 + 13 1404 c.866C>T c.(865-867)tCt>tTt p.S289F TBXAS1_ENST00000436047.2_Missense_Mutation_p.S289F|TBXAS1_ENST00000425687.1_Missense_Mutation_p.S221F|TBXAS1_ENST00000416849.2_Missense_Mutation_p.S335F|TBXAS1_ENST00000448866.1_Missense_Mutation_p.S288F|TBXAS1_ENST00000414508.2_Missense_Mutation_p.S289F|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000336425.5_Missense_Mutation_p.S288F|TBXAS1_ENST00000458722.1_Missense_Mutation_p.S334F|TBXAS1_ENST00000411653.1_Missense_Mutation_p.S288F NM_001130966.2 NP_001124438.1 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 288 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) GCCCGACATTCTGCAAGTCCC 0.522000 9 26 0 0 0.335167 0 0 FSIP2 401024 broad.mit.edu 37 2 186672082 186672082 + Missense_Mutation SNP A A T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr2:186672082A>T ENST00000343098.5 + 17 18316 c.18316A>T c.(18316-18318)Att>Ttt p.I6106F FSIP2_ENST00000424728.1_Missense_Mutation_p.I6017F NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 GGAGAATGTGATTTCTGCTCT 0.338000 11 65 0 0 0.387290 0 0 ZC3HC1 51530 broad.mit.edu 37 7 129663445 129663445 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr7:129663445C>T ENST00000358303.4 - 8 1223 c.1139G>A c.(1138-1140)cGa>cAa p.R380Q ZC3HC1_ENST00000481503.1_Missense_Mutation_p.R337Q|ZC3HC1_ENST00000360708.5_Intron|RP11-306G20.1_ENST00000587038.1_RNA|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.R359Q|RP11-306G20.1_ENST00000480018.1_RNA NM_016478.3 NP_057562.3 Q86WB0 NIPA_HUMAN zinc finger, C3HC-type containing 1 380 cell division|mitosis nucleus protein kinase binding|zinc ion binding endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1) 22 Melanoma(18;0.0435) TCCCATGCTTCGGGTCACTGG 0.617000 19 99 0 0 0.592651 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58256141 58256141 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr15:58256141C>T ENST00000249750.4 - 9 1795 c.1028G>A c.(1027-1029)cGg>cAg p.R343Q ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R305Q|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.R247Q|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R314Q|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R322Q NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 343 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CCTCTTGGCCCGCTCCACGCT 0.527000 9 56 0 0 0.335167 0 0 EXOSC7 23016 broad.mit.edu 37 3 45052755 45052755 + Missense_Mutation SNP A A T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr3:45052755A>T ENST00000265564.7 + 8 848 c.800A>T c.(799-801)cAt>cTt p.H267L EXOSC7_ENST00000461361.1_3'UTR|CLEC3B_ENST00000490386.1_Intron NM_015004.3 NP_055819.2 Q15024 EXOS7_HUMAN exosome component 7 267 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus 3'-5'-exoribonuclease activity|protein binding|RNA binding endometrium(3)|large_intestine(1)|lung(3) 7 BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064) AAGGTACTGCATGCCTCCTTG 0.532000 3 11 0 0 0.150653 0 0 OR2J3 442186 broad.mit.edu 37 6 29080240 29080240 + Silent SNP G G A rs138982330 by1000genomes TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr6:29080240G>A ENST00000377169.1 + 1 573 c.573G>A c.(571-573)tcG>tcA p.S191S NM_001005216.2 NP_001005216.2 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, member 3 191 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 TGCGATTATCGTGTGTTGATA 0.463000 19 49 0 0 0.539581 0 0 MYOF 26509 broad.mit.edu 37 10 95191243 95191243 + Missense_Mutation SNP C C A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr10:95191243C>A ENST00000371501.4 - 4 389 c.267G>T c.(265-267)aaG>aaT p.K89N MYOF_ENST00000371502.4_Missense_Mutation_p.K89N|MYOF_ENST00000358334.5_Missense_Mutation_p.K89N|MYOF_ENST00000359263.4_Missense_Mutation_p.K89N|MYOF_ENST00000371489.1_Missense_Mutation_p.K89N|MYOF_ENST00000371488.3_Missense_Mutation_p.K89N Q9NZM1 MYOF_HUMAN myoferlin 89 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CAGTCAGGTCCTTCAGGGCTA 0.498000 11 27 0.000673444 0.000716127 0.361761 1 0 PAN2 9924 broad.mit.edu 37 12 56718209 56718209 + Silent SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr12:56718209G>A ENST00000425394.2 - 12 2173 c.1797C>T c.(1795-1797)gaC>gaT p.D599D PAN2_ENST00000548043.1_Silent_p.D599D|PAN2_ENST00000440411.3_Silent_p.D599D|PAN2_ENST00000257931.5_Silent_p.D599D NM_001127460.2 NP_001120932.1 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 599 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 CCTCATCTGAGTCAGCCAGGA 0.498000 5 51 0 0 0.184627 0 0 KCNK5 8645 broad.mit.edu 37 6 39158899 39158899 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr6:39158899C>T ENST00000359534.3 - 5 1605 c.1267G>A c.(1267-1269)Gtg>Atg p.V423M NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 423 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 TCCGTGTTCACGAAGGTGATG 0.617000 19 26 0 0 0.575678 0 0 DUSP11 8446 broad.mit.edu 37 2 73993700 73993700 + Silent SNP G G C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr2:73993700G>C ENST00000272444.3 - 8 821 c.780C>G c.(778-780)ccC>ccG p.P260P DUSP11_ENST00000480948.1_Intron NM_003584.2 NP_003575.2 O75319 DUS11_HUMAN dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) 213 RNA processing nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1) 12 CACTTGACCTGGGTACACTGG 0.373000 6 76 0 0 0.217242 0 0 RANBP17 64901 broad.mit.edu 37 5 170336684 170336684 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr5:170336684C>T ENST00000523189.1 + 6 673 c.509C>T c.(508-510)tCa>tTa p.S170L NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 170 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TCTAGACCTTCAGCAAAACAC 0.289000 T TRD@ ALL 4 32 0 0 0.150653 0 0 GK2 2712 broad.mit.edu 37 4 80328687 80328687 + Missense_Mutation SNP A A G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr4:80328687A>G ENST00000358842.3 - 1 685 c.668T>C c.(667-669)tTt>tCt p.F223S NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 223 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 TGGAATTTCAAAAAAGTCACA 0.398000 16 70 0 0 0.557998 0 0 CLCN2 1181 broad.mit.edu 37 3 184074822 184074822 + Silent SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr3:184074822C>T ENST00000265593.4 - 10 1215 c.1044G>A c.(1042-1044)gtG>gtA p.V348V CLCN2_ENST00000423355.2_5'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000457512.1_Silent_p.V348V|CLCN2_ENST00000344937.7_Silent_p.V348V|CLCN2_ENST00000434054.2_Silent_p.V304V NM_004366.5 NP_004357.3 P51788 CLCN2_HUMAN chloride channel, voltage-sensitive 2 348 chloride channel complex voltage-gated chloride channel activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) GCTTCCGCATCACCTGGACAA 0.522000 7 27 0 0 0.248553 0 0 ZNF195 7748 broad.mit.edu 37 11 3380843 3380843 + Silent SNP G G T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr11:3380843G>T ENST00000354599.6 - 4 1283 c.1179C>A c.(1177-1179)ccC>ccA p.P393P ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000526601.1_Silent_p.P446P|ZNF195_ENST00000399602.4_Silent_p.P465P|ZNF195_ENST00000005082.9_Silent_p.P442P|ZNF195_ENST00000343338.7_Silent_p.P397P|ZNF195_ENST00000429541.2_Silent_p.P397P NM_001242843.1|NM_001256825.1|NM_007152.4 NP_001229772.1|NP_001243754.1|NP_009083.2 O14628 ZN195_HUMAN zinc finger protein 195 465 Missing (in Ref. 2; BAD18466). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1) 17 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) CACATTGGTAGGGTTTCTCTC 0.443000 17 55 7.07596e-05 7.74254e-05 0.539581 1 0 EXPH5 23086 broad.mit.edu 37 11 108385200 108385200 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr11:108385200G>A ENST00000265843.4 - 6 1144 c.1034C>T c.(1033-1035)cCa>cTa p.P345L EXPH5_ENST00000428840.1_Missense_Mutation_p.P269L|EXPH5_ENST00000525344.1_Missense_Mutation_p.P338L|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Missense_Mutation_p.P157L NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 345 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) AGTTGTGGCTGGAAAATGTAA 0.468000 4 85 0 0 0.150653 0 0 GDI1 2664 broad.mit.edu 37 X 153670046 153670046 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chrX:153670046G>A ENST00000447750.2 + 8 1231 c.896G>A c.(895-897)cGc>cAc p.R299H NM_001493.2 NP_001484.1 P31150 GDIA_HUMAN GDP dissociation inhibitor 1 299 protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|midbody GTPase activator activity|protein binding autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 16 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CAGGTTATCCGCATCATCTGT 0.572000 7 90 0 0 0.248553 0 0 SACS 26278 broad.mit.edu 37 13 23906534 23906534 + Silent SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr13:23906534C>T ENST00000382298.3 - 10 12069 c.11481G>A c.(11479-11481)aaG>aaA p.K3827K SACS_ENST00000402364.1_Silent_p.K3077K|SACS_ENST00000382292.3_Silent_p.K3827K NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3827 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CTAAAGGTAGCTTGTACAAAT 0.358000 14 54 0 0 0.457914 0 0 TENM1 10178 broad.mit.edu 37 X 124097537 124097537 + Silent SNP A A T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chrX:124097537A>T ENST00000422452.2 - 1 129 c.66T>A c.(64-66)gcT>gcA p.A22A TENM1_ENST00000371130.3_Silent_p.A22A NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 AACTGGTGTAAGCTAGATCCA 0.443000 32 251 0 0 0.750413 0 0 NRXN3 9369 broad.mit.edu 37 14 79933658 79933658 + Silent SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr14:79933658C>T ENST00000281127.7 + 2 1221 c.342C>T c.(340-342)gcC>gcT p.A114A NRXN3_ENST00000335750.5_Silent_p.A746A|NRXN3_ENST00000554719.1_Silent_p.A746A|NRXN3_ENST00000557594.1_Silent_p.A114A|NRXN3_ENST00000428277.2_Silent_p.A114A|NRXN3_ENST00000556003.1_3'UTR NM_138970.3 NP_620426.2 Q9HDB5 NRX3B_HUMAN neurexin 3 114 Laminin G-like. angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) ACCGCCTTGCCGTGGGCTTCA 0.577000 15 50 0 0 0.457914 0 0 LRRFIP1 9208 broad.mit.edu 37 2 238671551 238671551 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr2:238671551G>A ENST00000244815.5 + 10 1363 c.1123G>A c.(1123-1125)Gac>Aac p.D375N LRRFIP1_ENST00000289175.6_Missense_Mutation_p.D343N|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.D399N|LRRFIP1_ENST00000308482.9_Intron NM_004735.3 NP_004726.2 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting protein 1 399 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 29 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) TGCACCAGATGACAGGACCAG 0.493000 8 68 0 0 0.278610 0 0 FAM46D 169966 broad.mit.edu 37 X 79698631 79698631 + Missense_Mutation SNP C C A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chrX:79698631C>A ENST00000538312.1 + 5 927 c.593C>A c.(592-594)tCc>tAc p.S198Y FAM46D_ENST00000308293.5_Missense_Mutation_p.S198Y NM_001170574.1 NP_001164045.1 Q8NEK8 FA46D_HUMAN family with sequence similarity 46, member D 198 kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 ACCAAAGAATCCTATCCTGTT 0.403000 4 66 0.150653 0.152676 0.150653 1 0 ATP10B 23120 broad.mit.edu 37 5 159992867 159992867 + Missense_Mutation SNP G G C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr5:159992867G>C ENST00000327245.5 - 26 4825 c.3979C>G c.(3979-3981)Cta>Gta p.L1327V NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 1327 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTTGAGATTAGAGACTTCCCA 0.443000 16 111 0 0 0.539581 0 0 FAM178B 51252 broad.mit.edu 37 2 97543720 97543720 + Missense_Mutation SNP C C A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr2:97543720C>A ENST00000417561.3 - 20 2357 c.2358G>T c.(2356-2358)gaG>gaT p.E786D FAM178B_ENST00000393526.2_Missense_Mutation_p.E78D|FAM178B_ENST00000327896.3_Missense_Mutation_p.E606D|FAM178B_ENST00000470789.1_5'UTR|FAM178B_ENST00000490605.2_Missense_Mutation_p.E638D Q8IXR5 F178B_HUMAN family with sequence similarity 178, member B 786 large_intestine(1)|ovary(1) 2 CCTGGGGGCTCTCCCGGATCT 0.652000 4 25 0.150653 0.152676 0.150653 1 0 GNAZ 2781 broad.mit.edu 37 22 23465286 23465286 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr22:23465286G>A ENST00000248996.4 + 3 1402 c.736G>A c.(736-738)Gag>Aag p.E246K RTDR1_ENST00000216036.4_Intron NM_002073.2 NP_002064.1 P19086 GNAZ_HUMAN guanine nucleotide binding protein (G protein), alpha z polypeptide 246 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1) 19 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) TCGGATGGCAGAGAGCTTGCG 0.542000 12 41 0 0 0.435327 0 0 SOWAHB 345079 broad.mit.edu 37 4 77818042 77818042 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr4:77818042C>T ENST00000334306.2 - 1 960 c.961G>A c.(961-963)Gat>Aat p.D321N NM_001029870.1 NP_001025041.1 A6NEL2 ANR56_HUMAN sosondowah ankyrin repeat domain family member B 321 GGGCCCTGATCACGGGCCTCG 0.672000 6 19 0 0 0.217242 0 0 GJA9 81025 broad.mit.edu 37 1 39340697 39340697 + Missense_Mutation SNP A A C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr1:39340697A>C ENST00000454994.2 - 2 1350 c.1074T>G c.(1072-1074)ttT>ttG p.F358L MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000360786.3_Missense_Mutation_p.F358L|GJA9_ENST00000357771.3_Missense_Mutation_p.F358L P57773 CXA9_HUMAN gap junction protein, alpha 9, 59kDa 358 cell communication connexon complex|integral to membrane breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) GTTCTTTTCCAAATATTTTAT 0.343000 8 40 0 0 0.278610 0 0 EPHX4 253152 broad.mit.edu 37 1 92495738 92495738 + Silent SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr1:92495738C>T ENST00000370383.4 + 1 200 c.102C>T c.(100-102)atC>atT p.I34I NM_173567.4 NP_775838.3 Q8IUS5 EPHX4_HUMAN epoxide hydrolase 4 34 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(3)|lung(8) 12 GCGCCTCCATCCACCTGCTCA 0.697000 4 4 0 0 0.150653 0 0 ARNT2 9915 broad.mit.edu 37 15 80845025 80845025 + Silent SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr15:80845025G>A ENST00000533983.1 + 11 1305 c.966G>A c.(964-966)gtG>gtA p.V322V ARNT2_ENST00000303329.4_Silent_p.V333V|ARNT2_ENST00000527771.1_Silent_p.V322V Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 333 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) GGATGTCGGTGCCCACAGAGT 0.498000 9 85 0 0 0.307466 0 0 METAP1 23173 broad.mit.edu 37 4 99982433 99982433 + Missense_Mutation SNP G G C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr4:99982433G>C ENST00000296411.6 + 11 1260 c.1126G>C c.(1126-1128)Gac>Cac p.D376H METAP1_ENST00000544031.1_Missense_Mutation_p.D326H NM_015143.2 NP_055958.2 P53582 AMPM1_HUMAN methionyl aminopeptidase 1 376 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation cytoplasm aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(123;3.12e-07) CCGGCGACTTGACAGTGCACG 0.488000 6 54 0 0 0.217242 0 0 CBS 875 broad.mit.edu 37 21 44474014 44474014 + Silent SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr21:44474014G>A ENST00000398165.3 - 17 1891 c.1632C>T c.(1630-1632)gcC>gcT p.A544A CBS_ENST00000359624.3_Silent_p.A544A|CBS_ENST00000352178.5_Silent_p.A544A|CBS_ENST00000544202.1_Silent_p.A456A|CBS_ENST00000398158.1_Silent_p.A544A|CBS_ENST00000398168.1_Silent_p.A558A NM_000071.2 NP_000062.1 P35520 CBS_HUMAN cystathionine-beta-synthase 544 cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process cytosol|nucleolus cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8) 17 L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118) GCTCCTGGGCGGCCACGAAGT 0.647000 6 36 0 0 0.248553 0 0 EXOC3L2 90332 broad.mit.edu 37 19 45719439 45719439 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr19:45719439G>A ENST00000413988.1 - 9 873 c.833C>T c.(832-834)tCg>tTg p.S278L EXOC3L2_ENST00000252482.3_Missense_Mutation_p.S278L|AC006126.3_ENST00000591569.1_Intron NM_138568.3 NP_612635.3 Q2M3D2 EX3L2_HUMAN exocyst complex component 3-like 2 278 endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00883) ATCCAGCCACGAGGCCTGGGA 0.617000 5 33 0 0 0.217242 0 0 WNK1 65125 broad.mit.edu 37 12 970337 970337 + Silent SNP A A G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr12:970337A>G ENST00000537687.1 + 7 2422 c.1779A>G c.(1777-1779)gtA>gtG p.V593V WNK1_ENST00000315939.6_Silent_p.V593V|WNK1_ENST00000530271.2_Silent_p.V593V|WNK1_ENST00000340908.4_Silent_p.V186V|WNK1_ENST00000535572.1_Silent_p.V593V NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 593 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) AACAGCAGGTAGAACAATCCA 0.473000 25 85 0 0 0.639603 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 3 40 0 0 0.115264 0 0 VCAN 1462 broad.mit.edu 37 5 82834287 82834287 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr5:82834287C>T ENST00000265077.3 + 8 6030 c.5465C>T c.(5464-5466)aCc>aTc p.T1822I VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.T835I|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1822 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GAAGGGCTGACCACTCTCCCA 0.488000 37 59 0 0 0.796494 0 0 UBE3B 89910 broad.mit.edu 37 12 109972413 109972413 + Silent SNP G G T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr12:109972413G>T ENST00000342494.3 + 28 3628 c.3033G>T c.(3031-3033)ctG>ctT p.L1011L UBE3B_ENST00000434735.2_Silent_p.L1011L NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 1011 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 GGGACACTCTGGGCAGCGTCC 0.652000 12 41 7.03913e-09 7.8155e-09 0.411799 1 0 KIAA1024 23251 broad.mit.edu 37 15 79755583 79755583 + Missense_Mutation SNP C C T rs61746211 byFrequency TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr15:79755583C>T ENST00000305428.3 + 3 2548 c.2473C>T c.(2473-2475)Cgg>Tgg p.R825W NM_015206.2 NP_056021.1 Q9UPX6 K1024_HUMAN KIAA1024 825 integral to membrane central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 CGAGGTGAAGCGGGGCCAACC 0.617000 7 63 0 0 0.248553 0 0 ZAN 7455 broad.mit.edu 37 7 100345764 100345764 + RNA SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr7:100345764C>T ENST00000542585.1 + 0 1176 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CTCCAGTTTGCCGTGGTAGGC 0.587000 3 21 0 0 0.150653 0 0 HS6ST2 90161 broad.mit.edu 37 X 132091167 132091167 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chrX:132091167G>A ENST00000370836.2 - 3 1031 c.616C>T c.(616-618)Ccc>Tcc p.P206S HS6ST2_ENST00000370833.2_Missense_Mutation_p.P60S|HS6ST2_ENST00000521489.1_Missense_Mutation_p.P206S|HS6ST2_ENST00000370837.1_Missense_Mutation_p.P60S NM_147175.3 NP_671704.3 Q96MM7 H6ST2_HUMAN heparan sulfate 6-O-sulfotransferase 2 206 integral to membrane sulfotransferase activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2) 9 Acute lymphoblastic leukemia(192;0.000127) TTGTAGCGGGGCACGAACCTG 0.652000 15 43 0 0 0.479597 0 0 BRD1 23774 broad.mit.edu 37 22 50181097 50181097 + Missense_Mutation SNP C C T rs140147452 TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr22:50181097C>T ENST00000216267.8 - 7 2891 c.2405G>A c.(2404-2406)cGg>cAg p.R802Q BRD1_ENST00000342989.5_Missense_Mutation_p.R528Q|BRD1_ENST00000404760.1_Missense_Mutation_p.R933Q|BRD1_ENST00000457780.2_Missense_Mutation_p.G906R|BRD1_ENST00000542442.1_Missense_Mutation_p.R490Q|BRD1_ENST00000404034.1_Missense_Mutation_p.R802Q NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 802 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) GCATGTGCTCCGCGACCTTTT 0.602000 9 39 0 0 0.335167 0 0 SNX8 29886 broad.mit.edu 37 7 2317747 2317747 + Silent SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr7:2317747C>T ENST00000222990.3 - 2 330 c.288G>A c.(286-288)gaG>gaA p.E96E NM_013321.2 NP_037453.1 Q9Y5X2 SNX8_HUMAN sorting nexin 8 96 PX. cell communication|early endosome to Golgi transport|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3) 26 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14) GGCTGGAAACCTCATACTCCA 0.582000 3 53 0 0 0.115264 0 0 TAF7L 54457 broad.mit.edu 37 X 100538563 100538563 + Missense_Mutation SNP G G A rs145455495 TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chrX:100538563G>A ENST00000372907.3 - 4 423 c.412C>T c.(412-414)Cgc>Tgc p.R138C TAF7L_ENST00000324762.6_Missense_Mutation_p.R52C|TAF7L_ENST00000356784.1_Missense_Mutation_p.R52C|TAF7L_ENST00000372905.2_Missense_Mutation_p.R52C NM_024885.3 NP_079161.3 Q5H9L4 TAF7L_HUMAN TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa 138 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 ACTGCATGGCGCCCATCAGCT 0.398000 95 165 0 0 0.870114 0 0 KIAA1199 57214 broad.mit.edu 37 15 81181835 81181835 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr15:81181835G>A ENST00000394685.3 + 10 1407 c.988G>A c.(988-990)Gat>Aat p.D330N KIAA1199_ENST00000356249.5_Missense_Mutation_p.D330N|KIAA1199_ENST00000220244.3_Missense_Mutation_p.D330N Q8WUJ3 K1199_HUMAN KIAA1199 330 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 GGAGTGGTTCGATCATGATAA 0.473000 5 57 0 0 0.248553 0 0 RENBP 5973 broad.mit.edu 37 X 153207481 153207481 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chrX:153207481C>T ENST00000393700.3 - 7 771 c.691G>A c.(691-693)Gat>Aat p.D231N RENBP_ENST00000412763.1_Intron|RENBP_ENST00000369997.3_Missense_Mutation_p.D217N NM_002910.5 NP_002901.2 P51606 RENBP_HUMAN renin binding protein 231 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) GCTTGTCCATCCCTCTACCGG 0.617000 7 107 0 0 0.248553 0 0 PAK7 57144 broad.mit.edu 37 20 9561425 9561425 + Silent SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr20:9561425G>A ENST00000378429.3 - 5 903 c.357C>T c.(355-357)caC>caT p.H119H PAK7_ENST00000353224.5_Silent_p.H119H|PAK7_ENST00000378423.1_Silent_p.H119H NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 119 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) TTTCTTCCGCGTGGCCTGGAC 0.527000 19 141 0 0 0.575678 0 0 MRPL9 65005 broad.mit.edu 37 1 151735515 151735515 + Silent SNP C C T rs148707904 TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr1:151735515C>T ENST00000368830.3 - 2 345 c.261G>A c.(259-261)aaG>aaA p.K87K MRPL9_ENST00000467306.1_5'UTR|MRPL9_ENST00000368829.3_Silent_p.K87K|OAZ3_ENST00000321531.5_5'UTR|OAZ3_ENST00000315067.8_5'UTR NM_031420.2 NP_113608.1 Q9BYD2 RM09_HUMAN mitochondrial ribosomal protein L9 87 translation mitochondrial ribosome structural constituent of ribosome endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 12 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TGGGCCGATGCTTCGTGTCCT 0.647000 40 57 0 0 0.819951 0 0 C3orf84 646498 broad.mit.edu 37 3 49215451 49215451 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr3:49215451C>T ENST00000545770.2 - 4 319 c.233G>A c.(232-234)cGg>cAg p.R78Q C3orf84_ENST00000432035.2_Missense_Mutation_p.R79Q|C3orf84_ENST00000443990.1_5'UTR NM_001080528.2 NP_001073997.2 chromosome 3 open reading frame 84 CAGGTCCTTCCGCCTTCCGAT 0.627000 5 25 0 0 0.248553 0 0 LTBP3 4054 broad.mit.edu 37 11 65315474 65315474 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr11:65315474C>T ENST00000301873.5 - 12 2031 c.1763G>A c.(1762-1764)gGa>gAa p.G588E LTBP3_ENST00000322147.4_Missense_Mutation_p.G588E|LTBP3_ENST00000536982.1_Missense_Mutation_p.G214E|LTBP3_ENST00000532932.1_Missense_Mutation_p.G18E NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 588 Cys-rich.|EGF-like 3. extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 CACGCACTCTCCGTGGCCACA 0.657000 13 49 0 0 0.411799 0 0 IGSF8 93185 broad.mit.edu 37 1 160061631 160061631 + Missense_Mutation SNP C C A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr1:160061631C>A ENST00000368086.1 - 6 2040 c.1824G>T c.(1822-1824)aaG>aaT p.K608N IGSF8_ENST00000314485.7_Missense_Mutation_p.K608N Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 608 cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TTCGAAGCCTCTTCATGAAGC 0.557000 3 56 0.00909568 0.00953783 0.150653 1 0 TTYH3 80727 broad.mit.edu 37 7 2687663 2687663 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr7:2687663C>T ENST00000258796.7 + 5 902 c.697C>T c.(697-699)Cgc>Tgc p.R233C TTYH3_ENST00000407643.1_Intron|TTYH3_ENST00000477439.1_3'UTR|TTYH3_ENST00000403167.1_Missense_Mutation_p.R62C NM_025250.2 NP_079526.1 Q9C0H2 TTYH3_HUMAN tweety family member 3 233 chloride channel complex|plasma membrane chloride channel activity kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 17 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) TGGCCTCATCCGCAGCTCCAA 0.682000 8 51 0 0 0.307466 0 0 ZNF670 93474 broad.mit.edu 37 1 247201259 247201259 + Missense_Mutation SNP C C G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr1:247201259C>G ENST00000366503.2 - 4 820 c.662G>C c.(661-663)gGa>gCa p.G221A NM_001204220.1|NM_033213.4 NP_001191149.1|NP_149990.1 Q9BS34 ZN670_HUMAN zinc finger protein 670 221 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 17 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00427) GGGTTTCTCTCCAGTATGAGT 0.358000 7 20 0 0 0.278610 0 0 SH2D4A 63898 broad.mit.edu 37 8 19192276 19192276 + Missense_Mutation SNP C C A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr8:19192276C>A ENST00000265807.3 + 4 832 c.421C>A c.(421-423)Cag>Aag p.Q141K SH2D4A_ENST00000518040.1_Missense_Mutation_p.Q96K|SH2D4A_ENST00000519207.1_Missense_Mutation_p.Q141K NM_001174160.1|NM_022071.3 NP_001167631.1|NP_071354.2 Q9H788 SH24A_HUMAN SH2 domain containing 4A 141 cytoplasm|nucleus protein binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1) 16 Colorectal(111;0.0732) GGATAACCAGCAGACTAAAGA 0.458000 4 40 0.150653 0.152676 0.150653 1 0 ABL1 25 broad.mit.edu 37 9 133760623 133760623 + Silent SNP C C A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr9:133760623C>A ENST00000318560.5 + 11 3327 c.2946C>A c.(2944-2946)ccC>ccA p.P982P NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 982 F-actin-binding.|Pro-rich. P -> PL (in Ref. 1; AAA51561). actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) CCCCCGTTCCCTCCACGTTGC 0.657000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 3 55 0.115264 0.120034 0.115264 1 0 KIF4A 24137 broad.mit.edu 37 X 69510292 69510292 + Translation_Start_Site SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chrX:69510292G>A ENST00000374403.3 + 0 66 KIF4A_ENST00000485406.1_3'UTR|KIF4A_ENST00000374388.3_De_novo_Start_OutOfFrame NM_012310.4 NP_036442.3 O95239 KIF4A_HUMAN kinesin family member 4A anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 51 TCGCAGAGACGGTGCTGAGAT 0.592000 8 53 0 0 0.307466 0 0 IGHV3-49 28423 broad.mit.edu 37 14 107013048 107013048 + RNA SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr14:107013048C>T ENST00000390625.2 - 0 326 TTCACAGACGCGGCGTATTCT 0.493000 19 71 0 0 0.557998 0 0 POLE 5426 broad.mit.edu 37 12 133202825 133202825 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr12:133202825C>T ENST00000320574.5 - 46 6452 c.6409G>A c.(6409-6411)Gag>Aag p.E2137K POLE_ENST00000535270.1_Missense_Mutation_p.E2110K NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 2137 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) TCGGAGAACTCGCCGACATCC 0.602000 DNA polymerases (catalytic subunits) 4 25 0 0 0.150653 0 0 ZSCAN22 342945 broad.mit.edu 37 19 58850557 58850557 + Missense_Mutation SNP G G C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr19:58850557G>C ENST00000329665.4 + 3 1488 c.1341G>C c.(1339-1341)caG>caC p.Q447H NM_181846.2 NP_862829.1 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 447 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2) 16 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) CCTTTGCACAGAGCTCCTCCC 0.557000 7 58 0 0 0.248553 0 0 ZNF649 65251 broad.mit.edu 37 19 52394690 52394690 + Silent SNP G G T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr19:52394690G>T ENST00000354957.3 - 5 983 c.699C>A c.(697-699)ccC>ccA p.P233P ZNF649_ENST00000600738.1_Intron|CTC-429C10.2_ENST00000600329.1_RNA NM_023074.3 NP_075562.2 Q9BS31 ZN649_HUMAN zinc finger protein 649 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) TACACCCGTGGGGTTTCTCTC 0.502000 13 61 0.000151284 0.000163171 0.435327 1 0 MROH1 727957 broad.mit.edu 37 8 145235410 145235410 + Silent SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr8:145235410C>T ENST00000528919.1 + 6 667 c.546C>T c.(544-546)cgC>cgT p.R182R MROH1_ENST00000398656.4_Silent_p.R182R|MROH1_ENST00000423230.2_Silent_p.R182R|MROH1_ENST00000326134.5_Silent_p.R182R|MROH1_ENST00000534366.1_Silent_p.R182R NM_032450.2 NP_115826.2 maestro heat-like repeat family member 1 ACACGGTGCGCGTGGCCTTCT 0.657000 12 44 0 0 0.387290 0 0 DPP10 57628 broad.mit.edu 37 2 116485494 116485494 + Missense_Mutation SNP G G C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr2:116485494G>C ENST00000410059.1 + 8 1159 c.679G>C c.(679-681)Gct>Cct p.A227P DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.A231P|DPP10_ENST00000310323.8_Missense_Mutation_p.A220P|DPP10_ENST00000409163.1_Missense_Mutation_p.A177P NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 227 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 TAATGGGATTGCTGACTGGTT 0.284000 4 36 0 0 0.150653 0 0 GRIA3 2892 broad.mit.edu 37 X 122561966 122561966 + Silent SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chrX:122561966C>T ENST00000264357.5 + 12 2344 c.2052C>T c.(2050-2052)tcC>tcT p.S684S GRIA3_ENST00000542149.1_Silent_p.S684S|GRIA3_ENST00000371251.1_Silent_p.S684S|GRIA3_ENST00000371256.5_Silent_p.S684S NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 684 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) CCCTGGACTCCGGTTCAACAA 0.423000 6 82 0 0 0.248553 0 0 SLC38A10 124565 broad.mit.edu 37 17 79226463 79226463 + Missense_Mutation SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr17:79226463C>T ENST00000374759.3 - 13 1860 c.1477G>A c.(1477-1479)Gag>Aag p.E493K SLC38A10_ENST00000288439.5_Missense_Mutation_p.E493K NM_001037984.1 NP_001033073.1 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 493 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CGGTGGGCCTCGCCCACAGGC 0.607000 15 41 0 0 0.479597 0 0 CA11 770 broad.mit.edu 37 19 49143424 49143424 + Silent SNP C C G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr19:49143424C>G ENST00000084798.4 - 4 1078 c.399G>C c.(397-399)ctG>ctC p.L133L SEC1P_ENST00000430145.2_RNA NM_001217.3 NP_001208.2 O75493 CAH11_HUMAN carbonic anhydrase XI 133 extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8) 14 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016) ACAGCAGCCGCAGTTCACTGA 0.592000 20 53 0 0 0.592651 0 0 ZNF99 7652 broad.mit.edu 37 19 22939423 22939423 + Nonsense_Mutation SNP G G T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr19:22939423G>T ENST00000397104.3 - 7 2747 c.2748C>A c.(2746-2748)taC>taA p.Y916* zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CTTCACATTTGTACGGTTTCT 0.378000 6 26 8.12818e-05 8.8299e-05 0.248553 1 0 MAP3K4 4216 broad.mit.edu 37 6 161508788 161508788 + Silent SNP T T C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr6:161508788T>C ENST00000392142.4 + 10 2773 c.2625T>C c.(2623-2625)atT>atC p.I875I MAP3K4_ENST00000366919.2_Silent_p.I875I|MAP3K4_ENST00000366920.2_Silent_p.I875I|MAP3K4_ENST00000348824.7_Silent_p.I875I NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 875 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) AGAAGAGTATTATTTTGCAGT 0.413000 3 82 0 0 0.150653 0 0 UNC5D 137970 broad.mit.edu 37 8 35579850 35579850 + Missense_Mutation SNP G G A rs149536132 TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr8:35579850G>A ENST00000287272.2 + 8 1092 c.1072G>A c.(1072-1074)Gtc>Atc p.V358I UNC5D_ENST00000404895.2_Missense_Mutation_p.V414I|UNC5D_ENST00000416672.1_Missense_Mutation_p.V419I|UNC5D_ENST00000453357.2_Missense_Mutation_p.V409I|UNC5D_ENST00000420357.1_Missense_Mutation_p.V347I Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 414 TSP type-1 2. apoptosis|axon guidance integral to membrane receptor activity p.V409F(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TGGCGTGGACGTCATTGACTC 0.557000 25 144 0 0 0.681144 0 0 COL4A3BP 10087 broad.mit.edu 37 5 74801835 74801835 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr5:74801835G>A ENST00000380494.5 - 3 880 c.587C>T c.(586-588)tCc>tTc p.S196F COL4A3BP_ENST00000261415.7_Missense_Mutation_p.S68F|COL4A3BP_ENST00000405807.4_Missense_Mutation_p.S68F NM_001130105.1 NP_001123577.1 Q9Y5P4 C43BP_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) binding protein 68 ER to Golgi ceramide transport|immune response cytosol|endoplasmic reticulum membrane|Golgi apparatus ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1) 16 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;1e-53) AAGACAGATGGATCCTCTGCA 0.393000 6 67 0 0 0.278610 0 0 GRM7 2917 broad.mit.edu 37 3 6903381 6903381 + Silent SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr3:6903381C>T ENST00000486284.1 + 1 580 c.306C>T c.(304-306)ggC>ggT p.G102G GRM7_ENST00000402647.2_Silent_p.G102G|GRM7_ENST00000389336.4_Silent_p.G102G|GRM7_ENST00000357716.4_Silent_p.G102G|GRM7_ENST00000403881.1_Silent_p.G102G NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 102 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TGACGCTGGGCGCGCGGATCC 0.587000 4 15 0 0 0.150653 0 0 NUP93 9688 broad.mit.edu 37 16 56875619 56875619 + Silent SNP C C A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr16:56875619C>A ENST00000564887.1 + 19 2483 c.1854C>A c.(1852-1854)atC>atA p.I618I NUP93_ENST00000542526.1_Silent_p.I618I|NUP93_ENST00000569842.1_Silent_p.I741I|NUP93_ENST00000308159.5_Silent_p.I741I NM_001242795.1 NP_001229724.1 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 741 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 CTATGTAGATCAGGCACAACC 0.522000 16 113 4.14922e-12 4.67561e-12 0.500413 1 0 PDGFRB 5159 broad.mit.edu 37 5 149512334 149512334 + Missense_Mutation SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr5:149512334G>A ENST00000261799.4 - 7 1575 c.1106C>T c.(1105-1107)aCg>aTg p.T369M NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 369 Ig-like C2-type 4. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CACGTTGCGCGTGGACAGGGC 0.612000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 4 20 0 0 0.150653 0 0 TP53 7157 broad.mit.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A rs121912651 TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr17:7577539G>A ENST00000420246.2 - 7 874 c.742C>T c.(742-744)Cgg>Tgg p.R248W TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATGGGCCTCCGGTTCATGCCG 0.577000 R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 9 30 0 0 0.361761 0 0 KIAA1024 23251 broad.mit.edu 37 15 79749234 79749234 + Missense_Mutation SNP G G T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr15:79749234G>T ENST00000305428.3 + 2 820 c.745G>T c.(745-747)Gtg>Ttg p.V249L NM_015206.2 NP_056021.1 Q9UPX6 K1024_HUMAN KIAA1024 249 integral to membrane central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 GGAGCCATTTGTGGTCCAGTC 0.478000 5 69 0.184627 0.185858 0.184627 1 0 ZNF2 7549 broad.mit.edu 37 2 95846873 95846873 + Silent SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr2:95846873C>T ENST00000398107.2 + 4 696 c.174C>T c.(172-174)caC>caT p.H58H ZNF2_ENST00000295210.6_Silent_p.H62H|ZNF2_ENST00000425369.1_Silent_p.H20H|ZNF2_ENST00000453539.2_Silent_p.H113H|ZNF2_ENST00000340539.5_Silent_p.H100H NM_001017396.1 NP_001017396.1 Q9BSG1 ZNF2_HUMAN zinc finger protein 2 100 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 12 Ovarian(717;0.00768) READ - Rectum adenocarcinoma(193;0.0222) CTGAGATTCACGATGCTTCAG 0.423000 13 68 0 0 0.457914 0 0 NDUFS2 4720 broad.mit.edu 37 1 161179925 161179925 + Missense_Mutation SNP G G C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr1:161179925G>C ENST00000392179.4 + 7 966 c.727G>C c.(727-729)Gac>Cac p.D243H NDUFS2_ENST00000367993.3_Missense_Mutation_p.D243H|NDUFS2_ENST00000476409.2_Missense_Mutation_p.D145H|NDUFS2_ENST00000465923.1_3'UTR NM_001166159.1 NP_001159631.1 O75306 NDUS2_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) 243 mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1) 18 all_cancers(52;1.16e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) NADH(DB00157) GCTTATGGATGACATTTATCA 0.502000 OREG0013941 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 57 0 0 0.411799 0 0 MUC2 4583 broad.mit.edu 37 11 1098725 1098725 + Silent SNP G G C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr11:1098725G>C ENST00000441003.2 + 37 7122 c.7095G>C c.(7093-7095)tcG>tcC p.S2365S MUC2_ENST00000361558.6_3'UTR NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4727 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) TGCCGGGCTCGAGCCTGGAGT 0.647000 2 5 0 0 0.115264 0 0 SLC12A6 9990 broad.mit.edu 37 15 34549914 34549914 + Missense_Mutation SNP G G A rs121908429 TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr15:34549914G>A ENST00000354181.3 - 6 1111 c.619C>T c.(619-621)Cgc>Tgc p.R207C SLC12A6_ENST00000397702.2_Missense_Mutation_p.R148C|SLC12A6_ENST00000451844.2_Intron|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R156C|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R198C|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R207C|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R192C|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R207C|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R148C|SLC12A6_ENST00000560164.1_Intron|RP11-1084A12.2_ENST00000559867.1_RNA Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 207 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) CATGTAAGGCGTAAAAAAAGG 0.443000 3 30 0 0 0.115264 0 0 LOC101927958 101927958 broad.mit.edu 37 2 239141090 239141090 + RNA SNP C C T TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr2:239141090C>T ENST00000456601.1 + 0 766 TCAGATTGCGCGGTCTCTTTG 0.488000 11 22 0 0 0.361761 0 0 BCL11A 53335 broad.mit.edu 37 2 60688817 60688817 + Silent SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr2:60688817G>A ENST00000335712.6 - 4 1457 c.1230C>T c.(1228-1230)tgC>tgT p.C410C BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Silent_p.C376C|BCL11A_ENST00000537768.1_Silent_p.C79C|BCL11A_ENST00000356842.4_Silent_p.C410C|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Silent_p.C376C NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 410 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) ACGCGTGGTCGCACAGGTTGC 0.597000 T IGH@ B-CLL 18 84 0 0 0.539581 0 0 ZBTB49 166793 broad.mit.edu 37 4 4301683 4301683 + Missense_Mutation SNP T T C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr4:4301683T>C ENST00000337872.4 + 2 132 c.11T>C c.(10-12)gTt>gCt p.V4A ZBTB49_ENST00000355834.3_Missense_Mutation_p.V4A|ZBTB49_ENST00000538529.1_5'UTR NM_145291.3 NP_660334.3 Q6ZSB9 ZBT49_HUMAN zinc finger and BTB domain containing 49 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 28 ATGGACCCTGTTGCTACCCAC 0.463000 11 72 0 0 0.387290 0 0 NOTCH2 4853 broad.mit.edu 37 1 120466368 120466368 + Frame_Shift_Del DEL T T - TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr1:120466368delT ENST00000256646.2 - 26 4970 c.4751delA c.(4750-4752)cgfs p.Q1584fs NOTCH2_ENST00000493703.1_5'UTR NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 1584 Negative regulatory region (NRR). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GAGTTCCCCCTGGGAGTCCCG 0.542 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 19 47 --- --- --- --- KIF3C 3797 broad.mit.edu 37 2 26203995 26203996 + Frame_Shift_Ins INS - - G TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr2:26203995_26203996insG ENST00000264712.3 - 1 1370_1371 c.791_792insC c.(790-792)ggcfs p.G264fs KIF3C_ENST00000405914.1_Frame_Shift_Ins_p.G264fs NM_002254.6 NP_002245.4 O14782 KIF3C_HUMAN kinesin family member 3C 264 Kinesin-motor. blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATGGTGTGGCTGCCCCTCCCGC 0.624 18 46 --- --- --- --- GPRIN3 285513 broad.mit.edu 37 4 90170269 90170270 + In_Frame_Ins INS - - CTG TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr4:90170269_90170270insCTG ENST00000333209.3 - 2 1510_1511 c.992_993insCAG c.(991-993)atc>aCAGtc p.331_331I>TV NM_198281.2 NP_938022.2 Q6ZVF9 GRIN3_HUMAN GPRIN family member 3 331 p.R331S(1)|p.R331T(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) TGGAGACGGATCTGCTCTCGAC 0.545 12 68 --- --- --- --- ADH1B 125 broad.mit.edu 37 4 100237412 100237413 + Frame_Shift_Del DEL CT CT - TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr4:100237412_100237413delCT ENST00000305046.8 - 4 373_374 c.306_307delAG c.(304-309)agttfs p.RV102fs ADH1B_ENST00000394887.3_Frame_Shift_Del_p.RV62fs P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 102 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) TTTTTACAAACTCTGCATTTTC 0.386 11 57 --- --- --- --- HIST1H1B 3009 broad.mit.edu 37 6 27835120 27835130 + Frame_Shift_Del DEL GCCAAAGAAAG GCCAAAGAAAG - TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr6:27835120_27835130delGCCAAAGAAAG ENST00000331442.3 - 1 229_239 c.178_188delCTTTCTTTGGC c.(178-189)afs p.LSLA60fs NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 60 H15. nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 CTTAAGGGCTGCCAAAGAAAGGCCATTGCGC 0.611 9 146 --- --- --- --- CDC40 51362 broad.mit.edu 37 6 110501792 110501793 + Frame_Shift_Del DEL TC TC - TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr6:110501792_110501793delTC ENST00000368932.1 + 2 246_247 c.145_146delTC c.(145-147)tfs p.S49fs CDC40_ENST00000368930.1_Frame_Shift_Del_p.S49fs|CDC40_ENST00000368933.1_Frame_Shift_Del_p.S49fs|CDC40_ENST00000307731.1_Frame_Shift_Del_p.S49fs O60508 PRP17_HUMAN cell division cycle 40 49 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) ATCAAAGCCGTCTCTAGCAGTG 0.554 8 41 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651191 1651199 + In_Frame_Del DEL GGCTGTGGA GGCTGTGGA - rs71025763 TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr11:1651191_1651199delGGCTGTGGA ENST00000399676.2 + 1 159_167 c.121_129delGGCTGTGGA c.(121-129)del p.GCG47del NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 47 keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ctgtggctccggctgtggaggctgtgggg 0.713 21 22 --- --- --- --- AJUBA 84962 broad.mit.edu 37 14 23450663 23450666 + Frame_Shift_Del DEL GGCG GGCG - TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr14:23450663_23450666delGGCG ENST00000262713.2 - 1 1185_1188 c.810_813delCGCC c.(808-813)tgfs p.CA270fs RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Frame_Shift_Del_p.CA270fs NM_032876.4 NP_116265.1 Q96IF1 JUB_HUMAN ajuba LIM protein 270 PreLIM. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding GGGCGCCCACGGCGCAGTCCCCGT 0.721 8 2 --- --- --- --- SAV1 60485 broad.mit.edu 37 14 51132173 51132173 + Frame_Shift_Del DEL T T - TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr14:51132173delT ENST00000324679.4 - 2 622 c.259delA c.(259-261)gafs p.R88fs NM_021818.3 NP_068590.1 Q9H4B6 SAV1_HUMAN salvador homolog 1 (Drosophila) 88 hippo signaling cascade cytoplasm|nucleus identical protein binding breast(1)|kidney(2)|lung(2)|prostate(1) 6 all_epithelial(31;0.000611)|Breast(41;0.0333) CTTTCTCTTCTCATTATTTCA 0.393 11 18 --- --- --- --- HNRNPL 3191 broad.mit.edu 37 19 39329085 39329086 + Frame_Shift_Ins INS - - A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33815edd-bb4f-4f05-bc82-94eafe423652 f3b1312a-5ef1-4312-811e-223f4f4cb997 g.chr19:39329085_39329086insA ENST00000221419.5 - 10 1874_1875 c.1508_1509insT c.(1507-1509)ccafs p.P503fs AC104534.3_ENST00000594769.1_Frame_Shift_Ins_p.H120fs|HNRNPL_ENST00000600873.1_Frame_Shift_Ins_p.P370fs NM_001533.2 NP_001524.2 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 503 nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) TGAAGAAGTGCAGCACGTTGCT 0.599 8 27 --- --- --- ---