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 DCUN1D1 54165 broad.mit.edu 37 3 182665102 182665102 + Silent SNP T T G TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr3:182665102T>G ENST00000292782.4 - 6 777 c.624A>C c.(622-624)atA>atC p.I208I DCUN1D1_ENST00000469954.1_Silent_p.I193I NM_020640.2 NP_065691.2 Q96GG9 DCNL1_HUMAN DCN1, defective in cullin neddylation 1, domain containing 1 208 DCUN1. ubiquitin ligase complex protein binding endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) TGTCTTTTGGTATTGATCGTT 0.303000 4 40 0 0 1 0 0 TMC8 147138 broad.mit.edu 37 17 76133869 76133869 + Silent SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr17:76133869C>T ENST00000318430.5 + 11 1697 c.1323C>T c.(1321-1323)ttC>ttT p.F441F TMC8_ENST00000589691.1_Silent_p.F218F NM_152468.4 NP_689681.2 Q8IU68 TMC8_HUMAN transmembrane channel-like 8 441 endoplasmic reticulum membrane|integral to membrane breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192) CCGTGGCCTTCGCCTTCCTGG 0.662000 12 75 0 0 1 0 0 PMS2CL 441194 broad.mit.edu 37 7 6776956 6776956 + RNA SNP A A G rs7804542 by1000genomes TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr7:6776956A>G ENST00000486256.1 + 0 1083 NR_002217.1 ATCTCTGACAAAGGCGTCCTG 0.557000 5 71 0 0 1 0 0 C9orf84 158401 broad.mit.edu 37 9 114500747 114500747 + Silent SNP T T A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr9:114500747T>A ENST00000394779.3 - 8 1165 c.921A>T c.(919-921)atA>atT p.I307I C9orf84_ENST00000374287.3_Silent_p.I346I|C9orf84_ENST00000394777.4_Silent_p.I307I|C9orf84_ENST00000374283.5_Silent_p.I410I|C9orf84_ENST00000318737.4_Silent_p.I346I NM_001080551.1 NP_001074020.1 Q5VXU9 CI084_HUMAN chromosome 9 open reading frame 84 346 breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 TAACAGAAAATATCTTTTTCA 0.333000 32 92 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26463414 26463414 + Silent SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr10:26463414G>A ENST00000265944.5 + 30 4387 c.4221G>A c.(4219-4221)aaG>aaA p.K1407K MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1407 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 ATAACATCAAGAAGAAGGATA 0.328000 28 79 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16873292 16873292 + Missense_Mutation SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr10:16873292G>A ENST00000377833.4 - 65 10552 c.10487C>T c.(10486-10488)tCt>tTt p.S3496F NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3496 CUB 26. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TCCACGATCAGAAGTTACACT 0.403000 22 70 0 0 1 0 0 DGKB 1607 broad.mit.edu 37 7 14647094 14647094 + Missense_Mutation SNP C C A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr7:14647094C>A ENST00000403951.2 - 17 1820 c.1401G>T c.(1399-1401)caG>caT p.Q467H DGKB_ENST00000402815.1_Missense_Mutation_p.Q466H|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Missense_Mutation_p.Q467H|DGKB_ENST00000407950.1_Missense_Mutation_p.Q459H|DGKB_ENST00000444700.2_Missense_Mutation_p.Q448H|DGKB_ENST00000406247.3_Missense_Mutation_p.Q467H|DGKB_ENST00000399322.3_Missense_Mutation_p.Q467H Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 467 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) GACTGTAAACCTGACGAGGAT 0.284000 6 31 0.00307968 0.00318587 1 1 0 EIF2B3 8891 broad.mit.edu 37 1 45407265 45407265 + Missense_Mutation SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr1:45407265C>T ENST00000360403.2 - 4 493 c.367G>A c.(367-369)Gct>Act p.A123T EIF2B3_ENST00000480675.1_5'UTR|EIF2B3_ENST00000372183.3_Missense_Mutation_p.A123T NM_001261418.1|NM_020365.4 NP_001248347.1|NP_065098.1 Q9NR50 EI2BG_HUMAN eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa 123 negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex nucleotidyltransferase activity|protein binding|translation initiation factor activity endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 17 Acute lymphoblastic leukemia(166;0.155) GCATCATAAGCTCTAAACAGG 0.428000 20 149 0 0 1 0 0 TMEM181 57583 broad.mit.edu 37 6 158957802 158957802 + Silent SNP C C G TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr6:158957802C>G ENST00000367090.3 + 1 335 c.324C>G c.(322-324)ctC>ctG p.L108L NM_020823.1 NP_065874.1 Q9P2C4 TM181_HUMAN transmembrane protein 181 108 pathogenesis integral to membrane toxin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1) 22 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05) AGCCCCCGCTCTGCAGCGAGC 0.701000 4 16 0 0 1 0 0 EIF6 3692 broad.mit.edu 37 20 33872144 33872144 + Silent SNP C C G TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr20:33872144C>G ENST00000374443.3 - 2 196 c.147G>C c.(145-147)gcG>gcC p.A49A EIF6_ENST00000462894.1_Intron|EIF6_ENST00000374436.3_Intron|EIF6_ENST00000374450.3_Intron NM_181466.2 NP_852131.1 P56537 IF6_HUMAN eukaryotic translation initiation factor 6 52 mature ribosome assembly cytoplasm|nucleolus protein binding|ribosome binding|translation initiation factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(18;0.00252) CTCCTGCGCACGCCTCCCCGC 0.662000 20 104 0 0 1 0 0 ZC3H4 23211 broad.mit.edu 37 19 47588319 47588319 + Silent SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr19:47588319G>A ENST00000253048.5 - 8 1138 c.1101C>T c.(1099-1101)gaC>gaT p.D367D ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 367 Gly-rich. nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) TCACGCCCATGTCCTCGTCAT 0.537000 12 256 0 0 1 0 0 ATP8B1 5205 broad.mit.edu 37 18 55361887 55361887 + Missense_Mutation SNP A A G TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr18:55361887A>G ENST00000536015.1 - 11 1075 c.956T>C c.(955-957)aTa>aCa p.I319T RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.I319T|RP11-35G9.3_ENST00000599199.1_RNA NM_005603.4 NP_005594.1 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 319 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) ATTCTTCATTATTTTAGTGTC 0.328000 6 20 0 0 1 0 0 PALB2 79728 broad.mit.edu 37 16 23646717 23646717 + Missense_Mutation SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr16:23646717C>T ENST00000261584.4 - 4 1302 c.1150G>A c.(1150-1152)Gaa>Aaa p.E384K NM_024675.3 NP_078951.2 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 384 double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) GAGGTTGCTTCCAGGCTAAGA 0.413000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 16 112 0 0 1 0 0 BCAR1 9564 broad.mit.edu 37 16 75263550 75263550 + Silent SNP G G T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr16:75263550G>T ENST00000546196.1 - 7 4037 c.2385C>A c.(2383-2385)cgC>cgA p.R795R BCAR1_ENST00000393422.2_Silent_p.R842R|BCAR1_ENST00000542031.2_Silent_p.R822R|BCAR1_ENST00000162330.5_Silent_p.R824R|BCAR1_ENST00000538440.2_Silent_p.R824R|BCAR1_ENST00000535626.2_Silent_p.R676R|BCAR1_ENST00000418647.3_Silent_p.R870R|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000393420.6_Silent_p.R842R|BCAR1_ENST00000420641.3_Silent_p.R842R P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 824 Divergent helix-loop-helix motif. actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 35 BRCA - Breast invasive adenocarcinoma(221;0.169) CCACGATGCCGCGCAGGAGGT 0.662000 11 29 6.40141e-05 6.77796e-05 1 1 0 SP6 80320 broad.mit.edu 37 17 45924952 45924952 + Missense_Mutation SNP G G C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr17:45924952G>C ENST00000536300.1 - 2 1175 c.844C>G c.(844-846)Cgt>Ggt p.R282G SP6_ENST00000342234.2_Missense_Mutation_p.R282G NM_001258248.1 NP_001245177.1 Q3SY56 SP6_HUMAN Sp6 transcription factor 282 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|lung(5)|prostate(1)|skin(1) 8 ACGAAGGGACGGTCGCCGCTG 0.642000 7 34 0 0 1 0 0 PTPN12 5782 broad.mit.edu 37 7 77221564 77221564 + Missense_Mutation SNP A A C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr7:77221564A>C ENST00000248594.6 + 6 755 c.483A>C c.(481-483)aaA>aaC p.K161N PTPN12_ENST00000435495.2_Missense_Mutation_p.K31N|PTPN12_ENST00000415482.2_Missense_Mutation_p.K42N NM_002835.3 NP_002826.3 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 12 161 Tyrosine-protein phosphatase. soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 39 CACCATTTAAAATTTCTTGTG 0.313000 24 55 0 0 1 0 0 CCDC42 146849 broad.mit.edu 37 17 8633486 8633486 + Missense_Mutation SNP C C G TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr17:8633486C>G ENST00000293845.3 - 7 1139 c.913G>C c.(913-915)Gag>Cag p.E305Q CCDC42_ENST00000539522.2_Missense_Mutation_p.E231Q NM_144681.2 NP_653282.2 Q96M95 CCD42_HUMAN coiled-coil domain containing 42 305 kidney(1)|large_intestine(4)|lung(3)|ovary(1) 9 TTTTTCACCTCTGCCCAGATG 0.532000 8 24 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2808538 2808538 + Missense_Mutation SNP G G C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr16:2808538G>C ENST00000301740.8 + 5 1132 c.583G>C c.(583-585)Gat>Cat p.D195H NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 195 Lys-rich.|Ser-rich. D -> K (in Ref. 6; AAH07752). Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 aaagaagaaAGATAGAGGACG 0.473000 15 161 0 0 1 0 0 FYB 2533 broad.mit.edu 37 5 39119657 39119657 + Missense_Mutation SNP C C A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr5:39119657C>A ENST00000351578.6 - 14 2270 c.2080G>T c.(2080-2082)Gac>Tac p.D694Y FYB_ENST00000512982.1_Missense_Mutation_p.D740Y|FYB_ENST00000515010.1_Missense_Mutation_p.D694Y|FYB_ENST00000540520.1_Missense_Mutation_p.D750Y|FYB_ENST00000505428.1_Missense_Mutation_p.D740Y NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 694 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) TTCCTGAAGTCTTTTTCTTCT 0.294000 3 4 0.115264 0.117218 1 1 0 TRPA1 8989 broad.mit.edu 37 8 72975102 72975102 + Missense_Mutation SNP C C A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr8:72975102C>A ENST00000262209.4 - 6 946 c.739G>T c.(739-741)Gtg>Ttg p.V247L NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 247 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) CCATTTTGCACAGCCAGGTGG 0.398000 7 76 0.000157383 0.000165667 1 1 0 PPP4R4 57718 broad.mit.edu 37 14 94708174 94708174 + Missense_Mutation SNP A A T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr14:94708174A>T ENST00000304338.3 + 10 1180 c.1026A>T c.(1024-1026)aaA>aaT p.K342N NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 342 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 TTTATAAGAAACTTTGTACAT 0.318000 24 86 0 0 1 0 0 C17orf74 201243 broad.mit.edu 37 17 7330242 7330242 + Nonsense_Mutation SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr17:7330242G>A ENST00000333870.3 + 3 1006 c.932G>A c.(931-933)tGg>tAg p.W311* C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA NM_175734.4 NP_783861.3 Q0P670 CQ074_HUMAN chromosome 17 open reading frame 74 311 integral to membrane cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 22 Prostate(122;0.157) TATGACTCCTGGGATCAGCGG 0.706000 8 43 0 0 1 0 0 RAB19 401409 broad.mit.edu 37 7 140110835 140110835 + Missense_Mutation SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr7:140110835G>A ENST00000275874.5 + 3 462 c.264G>A c.(262-264)atG>atA p.M88I RAB19_ENST00000356407.3_Intron|RAB19_ENST00000537763.1_Intron A4D1S5 RAB19_HUMAN RAB19, member RAS oncogene family 67 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 9 Melanoma(164;0.0142) CTCAAAAGATGAGCCCCCAAA 0.493000 26 117 0 0 1 0 0 PPP4R1 9989 broad.mit.edu 37 18 9550380 9550380 + Missense_Mutation SNP G G C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr18:9550380G>C ENST00000400556.3 - 17 2381 c.2308C>G c.(2308-2310)Cta>Gta p.L770V PPP4R1_ENST00000400555.3_Missense_Mutation_p.L753V NM_001042388.2 NP_001035847.1 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 770 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity large_intestine(1)|skin(2) 3 TATAACTCTAGAAGTAAAATC 0.333000 14 150 0 0 1 0 0 SLC4A5 57835 broad.mit.edu 37 2 74454961 74454961 + Missense_Mutation SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr2:74454961G>A ENST00000423644.1 - 25 3110 c.2713C>T c.(2713-2715)Cgt>Tgt p.R905C SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000359484.4_Silent_p.G862G|SLC4A5_ENST00000394019.2_Silent_p.G964G|SLC4A5_ENST00000377632.1_Intron|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Silent_p.G964G|SLC4A5_ENST00000358683.4_Silent_p.G862G|SLC4A5_ENST00000357822.5_Silent_p.G964G|SLC4A5_ENST00000346834.4_Intron Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 0 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity p.G964G(1) breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GGGAGGCCACGCCCATGTAGA 0.577000 3 14 0 0 1 0 0 ANO3 63982 broad.mit.edu 37 11 26681950 26681950 + Missense_Mutation SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr11:26681950C>T ENST00000256737.3 + 27 3757 c.2905C>T c.(2905-2907)Cgg>Tgg p.R969W ANO3_ENST00000531568.1_Missense_Mutation_p.R823W|ANO3_ENST00000537978.1_Missense_Mutation_p.R953W|ANO3_ENST00000525139.1_Missense_Mutation_p.R953W NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 969 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 GCAACAACAACGGAGAAAAAG 0.428000 19 61 0 0 1 0 0 TICAM1 148022 broad.mit.edu 37 19 4817854 4817854 + Missense_Mutation SNP G G C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr19:4817854G>C ENST00000248244.5 - 2 765 c.536C>G c.(535-537)cCa>cGa p.P179R NM_182919.3 NP_891549.1 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 179 apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) AATGGGGCGTGGGAGGCTCCT 0.642000 19 131 0 0 1 0 0 IGLV2-28 28812 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 6 14 0 0 1 0 0 CYP4F8 11283 broad.mit.edu 37 19 15728889 15728889 + RNA SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr19:15728889G>A ENST00000441682.2 + 0 341 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 GAGGTGGTTGGGCCCCATCAC 0.597000 25 64 0 0 1 0 0 ZNF233 353355 broad.mit.edu 37 19 44778518 44778518 + Missense_Mutation SNP T T C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr19:44778518T>C ENST00000391958.2 + 5 1832 c.1705T>C c.(1705-1707)Tgt>Cgt p.C569R ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Missense_Mutation_p.C551R|ZNF235_ENST00000589799.1_Intron NM_181756.2 NP_861421.2 A6NK53 ZN233_HUMAN zinc finger protein 233 569 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) ATGTGATGTGTGTGGGAAAGG 0.448000 6 100 0 0 1 0 0 NFATC3 4775 broad.mit.edu 37 16 68156551 68156551 + Silent SNP G G T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr16:68156551G>T ENST00000349223.5 + 2 989 c.765G>T c.(763-765)ctG>ctT p.L255L NFATC3_ENST00000575270.1_Silent_p.L255L|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Silent_p.L255L|NFATC3_ENST00000329524.4_Silent_p.L255L NM_173163.2 NP_775186.1 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 255 3 X SP repeats. inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) AGAATTGGCTGAGCCCCAGGC 0.532000 8 111 5.4927e-09 6.14091e-09 1 1 0 MYH10 4628 broad.mit.edu 37 17 8383508 8383508 + Silent SNP G G T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr17:8383508G>T ENST00000360416.3 - 40 5655 c.5517C>A c.(5515-5517)gtC>gtA p.V1839V MYH10_ENST00000396239.1_Silent_p.V1829V|MYH10_ENST00000379980.4_Silent_p.V1824V|MYH10_ENST00000269243.4_Silent_p.V1808V|NDEL1_ENST00000299734.7_Intron NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 1808 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 ACTTAGACTTGACAGCACCCT 0.587000 12 63 1.61879e-10 1.82114e-10 1 1 0 TXLNGY 246126 broad.mit.edu 37 Y 21761644 21761644 + RNA SNP A A T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chrY:21761644A>T ENST00000253320.4 + 0 4652 Q9BZA5 CY15A_HUMAN haematopoietic_and_lymphoid_tissue(1) 1 TATATGGATAAGTTTGAAGAA 0.274000 6 5 0 0 1 0 0 RHOBTB2 23221 broad.mit.edu 37 8 22863632 22863632 + Silent SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr8:22863632C>T ENST00000251822.6 + 4 993 c.456C>T c.(454-456)gtC>gtT p.V152V RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Silent_p.V174V|RHOBTB2_ENST00000523918.1_3'UTR|RHOBTB2_ENST00000522948.1_Silent_p.V159V NM_015178.2 NP_055993.2 Q9BYZ6 RHBT2_HUMAN Rho-related BTB domain containing 2 152 Rho-like. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 31 Prostate(55;0.0513)|Breast(100;0.214) Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) TGGAGGCTGTCAACAGGGCTA 0.607000 21 222 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179413855 179413855 + Missense_Mutation SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr2:179413855G>A ENST00000589042.1 - 339 92722 c.92498C>T c.(92497-92499)aCa>aTa p.T30833I TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T21768I|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T21893I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T28265I|TTN_ENST00000591111.1_Missense_Mutation_p.T29192I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T21960I|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29192 Fibronectin type-III 124. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTCTTTGATGTGTCTGTTAC 0.458000 33 93 0 0 1 0 0 HIRA 7290 broad.mit.edu 37 22 19363199 19363199 + Missense_Mutation SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr22:19363199G>A ENST00000263208.5 - 15 1986 c.1730C>T c.(1729-1731)cCa>cTa p.P577L HIRA_ENST00000546308.1_Missense_Mutation_p.P533L|HIRA_ENST00000340170.4_Missense_Mutation_p.P577L|HIRA_ENST00000541063.1_Missense_Mutation_p.P533L NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 577 Interaction with CCNA1. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) AGGAGCACCTGGTGTGGCTTT 0.577000 9 69 0 0 1 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69096989 69096989 + Silent SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr4:69096989G>A ENST00000332644.5 - 7 779 c.618C>T c.(616-618)ggC>ggT p.G206G NM_182502.3 NP_872308.2 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 206 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 AGTAGTGACGGCCTTTCCATT 0.473000 9 53 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189611999 189611999 + Missense_Mutation SNP T T G TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr3:189611999T>G ENST00000264731.3 + 14 1840 c.1751T>G c.(1750-1752)cTg>cGg p.L584R TP63_ENST00000392461.3_Silent_p.S410S|TP63_ENST00000320472.5_Silent_p.S504S|TP63_ENST00000392460.3_Missense_Mutation_p.W553G|TP63_ENST00000440651.2_Missense_Mutation_p.L580R|TP63_ENST00000354600.5_Missense_Mutation_p.L490R|TP63_ENST00000449992.1_Missense_Mutation_p.L405R|TP63_ENST00000382063.4_Missense_Mutation_p.L499R|TP63_ENST00000392463.2_Missense_Mutation_p.W459G|TP63_ENST00000456148.1_Missense_Mutation_p.L486R NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 584 SAM. anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) GCACAGGATCTGGCAAGTCTG 0.502000 HNSCC(45;0.13) 10 81 0 0 1 0 0 ZNF558 148156 broad.mit.edu 37 19 8922717 8922717 + Missense_Mutation SNP T T A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr19:8922717T>A ENST00000601372.1 - 10 1160 c.449A>T c.(448-450)aAa>aTa p.K150I ZNF558_ENST00000301475.1_Missense_Mutation_p.K150I|ZNF558_ENST00000444186.2_Missense_Mutation_p.K79I Q96NG5 ZN558_HUMAN zinc finger protein 558 150 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 TTCATTGAGTTTCACTCCACG 0.338000 17 39 0 0 1 0 0 ERGIC2 51290 broad.mit.edu 37 12 29514592 29514592 + Silent SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr12:29514592C>T ENST00000360150.4 - 6 435 c.360G>A c.(358-360)caG>caA p.Q120Q NM_016570.2 NP_057654.2 Q96RQ1 ERGI2_HUMAN ERGIC and golgi 2 120 vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1) 10 Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184) Arsenic trioxide(DB01169) GCCACTCTTTCTGCTGTGGTG 0.289000 30 87 0 0 1 0 0 HS6ST1 9394 broad.mit.edu 37 2 129026418 129026418 + Missense_Mutation SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr2:129026418C>T ENST00000259241.6 - 2 567 c.554G>A c.(553-555)cGa>cAa p.R185Q NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 185 3'-phosphate binding (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) CACGGGGTCTCGTAGCAGGGT 0.627000 10 38 0 0 1 0 0 TMCO3 55002 broad.mit.edu 37 13 114150217 114150217 + Silent SNP A A G TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr13:114150217A>G ENST00000434316.2 + 2 680 c.321A>G c.(319-321)gaA>gaG p.E107E TMCO3_ENST00000375391.1_Silent_p.E107E|TMCO3_ENST00000474393.1_3'UTR NM_017905.4 NP_060375.4 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 107 integral to membrane solute:hydrogen antiporter activity NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1) 25 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) ATGAAAGTGAAAATTCCGTTT 0.502000 17 20 0 0 1 0 0 TGS1 96764 broad.mit.edu 37 8 56708566 56708566 + Missense_Mutation SNP G G C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr8:56708566G>C ENST00000260129.5 + 7 1874 c.1397G>C c.(1396-1398)cGg>cCg p.R466P NM_024831.6 NP_079107.6 Q96RS0 TGS1_HUMAN trimethylguanosine synthase 1 466 cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) TTCAGTCATCGGCAGGTCAGG 0.343000 21 67 0 0 1 0 0 OTUD6B 51633 broad.mit.edu 37 8 92083370 92083370 + Missense_Mutation SNP A A T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr8:92083370A>T ENST00000285420.4 + 2 276 c.177A>T c.(175-177)aaA>aaT p.K59N OTUD6B_ENST00000404789.3_5'UTR NM_016023.3 NP_057107.3 Q8N6M0 OTU6B_HUMAN OTU domain containing 6B 29 endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(11;0.0187) TTTCAGCCAAAATTCAGGGCA 0.438000 17 82 0 0 1 0 0 RASIP1 54922 broad.mit.edu 37 19 49225236 49225236 + Missense_Mutation SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr19:49225236G>A ENST00000222145.4 - 11 2771 c.2567C>T c.(2566-2568)aCc>aTc p.T856I NM_017805.2 NP_060275.2 Q5U651 RAIN_HUMAN Ras interacting protein 1 856 Dilute. signal transduction Golgi stack|perinuclear region of cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 21 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) GGGGTGGTCGGTTCTTAGGCT 0.622000 19 48 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82433849 82433849 + Missense_Mutation SNP A A C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr1:82433849A>C ENST00000370728.1 + 16 3122 c.2477A>C c.(2476-2478)aAt>aCt p.N826T LPHN2_ENST00000319517.6_Missense_Mutation_p.N813T|LPHN2_ENST00000335786.5_Missense_Mutation_p.N826T|LPHN2_ENST00000370727.1_Missense_Mutation_p.N826T|LPHN2_ENST00000271029.4_Missense_Mutation_p.N826T|LPHN2_ENST00000370721.1_Missense_Mutation_p.N751T|LPHN2_ENST00000370713.1_Missense_Mutation_p.N813T|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.N813T|LPHN2_ENST00000370715.1_Missense_Mutation_p.N813T|LPHN2_ENST00000370725.1_Missense_Mutation_p.N826T|LPHN2_ENST00000370717.2_Missense_Mutation_p.N826T|LPHN2_ENST00000359929.3_Missense_Mutation_p.N813T|LPHN2_ENST00000394879.1_Missense_Mutation_p.N813T|LPHN2_ENST00000370730.1_Missense_Mutation_p.N826T O95490 LPHN2_HUMAN latrophilin 2 826 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding p.N813S(1)|p.N826S(1) NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CACCTAACCAATTTTGCAATT 0.413000 37 70 0 0 1 0 0 ZNF600 162966 broad.mit.edu 37 19 53270816 53270816 + Nonsense_Mutation SNP T T A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr19:53270816T>A ENST00000338230.3 - 3 460 c.193A>T c.(193-195)Aag>Tag p.K65* NM_198457.2 NP_940859.2 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 65 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) CCAGTCAACTTTTTTATTTTT 0.378000 106 233 0 0 1 0 0 RSRC1 51319 broad.mit.edu 37 3 157841746 157841746 + Missense_Mutation SNP G G T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr3:157841746G>T ENST00000464171.1 + 3 411 c.286G>T c.(286-288)Gtt>Ttt p.V96F RSRC1_ENST00000295930.3_Missense_Mutation_p.V96F|RSRC1_ENST00000312179.6_Missense_Mutation_p.V96F|RSRC1_ENST00000480820.1_Missense_Mutation_p.V96F|RSRC1_ENST00000475278.2_Missense_Mutation_p.V96F NM_001271834.1 NP_001258763.1 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 96 Arg/Ser-rich. nucleocytoplasmic transport cytoplasm|nuclear speck protein binding cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 18 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) ATCCTATAGAGTTCAGAGGTC 0.408000 12 90 1.08611e-07 1.19938e-07 1 1 0 FAM65B 9750 broad.mit.edu 37 6 24848286 24848286 + Silent SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr6:24848286C>T ENST00000259698.4 - 12 1219 c.1044G>A c.(1042-1044)ccG>ccA p.P348P FAM65B_ENST00000540914.1_Silent_p.P348P|FAM65B_ENST00000538035.1_Silent_p.P377P|FAM65B_ENST00000510784.2_Silent_p.P382P|FAM65B_ENST00000378023.4_Silent_p.P348P NM_014722.2 NP_055537.2 Q9Y4F9 FA65B_HUMAN family with sequence similarity 65, member B 348 cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 25 TGGGCGTTTCCGGGGTACCCT 0.532000 5 40 0 0 1 0 0 KIF5C 3800 broad.mit.edu 37 2 149806902 149806902 + Silent SNP C C A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr2:149806902C>A ENST00000435030.1 + 10 1262 c.894C>A c.(892-894)acC>acA p.T298T KIF5C_ENST00000397413.1_Silent_p.T66T|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Silent_p.T203T O60282 KIF5C_HUMAN kinesin family member 5C 298 Kinesin-motor.|Microtubule-binding. microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) ACTGCAGAACCACCATCGTCA 0.478000 8 48 5.18039e-06 5.58366e-06 1 1 0 DOK6 220164 broad.mit.edu 37 18 67406319 67406319 + Nonsense_Mutation SNP G G T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr18:67406319G>T ENST00000382713.5 + 6 908 c.718G>T c.(718-720)Gaa>Taa p.E240* NM_152721.5 NP_689934.2 Q6PKX4 DOK6_HUMAN docking protein 6 240 insulin receptor binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) ATTAATGCTAGAAATGGAACA 0.453000 41 94 8.69298e-16 9.90339e-16 1 1 0 ALK 238 broad.mit.edu 37 2 29940550 29940550 + Missense_Mutation SNP C C G TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr2:29940550C>G ENST00000389048.3 - 2 1587 c.681G>C c.(679-681)ttG>ttC p.L227F ALK_ENST00000431873.1_Missense_Mutation_p.L227F NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 227 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) TTGGTGATTCCAAGGAGCTAT 0.408000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 11 100 0 0 1 0 0 ZNF679 168417 broad.mit.edu 37 7 63720710 63720710 + Missense_Mutation SNP A A G TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr7:63720710A>G ENST00000421025.1 + 3 420 c.151A>G c.(151-153)Aac>Gac p.N51D ZNF679_ENST00000255746.4_Missense_Mutation_p.N51D NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 51 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 GAACTACAGAAACCTGGTCTC 0.373000 35 122 0 0 1 0 0 RIMS4 140730 broad.mit.edu 37 20 43386398 43386398 + Missense_Mutation SNP C C G TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr20:43386398C>G ENST00000372851.3 - 4 430 c.364G>C c.(364-366)Ggt>Cgt p.G122R RIMS4_ENST00000541604.2_Missense_Mutation_p.G123R NM_001205317.1|NM_182970.3 NP_001192246.1|NP_892015.1 Q9H426 RIMS4_HUMAN regulating synaptic membrane exocytosis 4 122 C2. exocytosis|neurotransmitter transport cell junction|synapse central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1) 29 Myeloproliferative disorder(115;0.0122) TCCTGCAGACCGATCTCCACA 0.562000 5 75 0 0 1 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530545 80530545 + Missense_Mutation SNP G G C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr2:80530545G>C ENST00000295057.3 - 2 1056 c.400C>G c.(400-402)Cgg>Ggg p.R134G CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R134G|CTNNA2_ENST00000402739.4_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 134 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 GGCATGGGCCGGAAGGTGGTG 0.627000 HNSCC(69;0.2) 8 88 0 0 1 0 0 PARPBP 55010 broad.mit.edu 37 12 102559554 102559554 + Silent SNP T T C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr12:102559554T>C ENST00000327680.2 + 7 934 c.471T>C c.(469-471)taT>taC p.Y157Y PARPBP_ENST00000541394.1_Silent_p.Y315Y|PARPBP_ENST00000543784.1_Silent_p.Y124Y|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000392911.2_Silent_p.Y157Y|PARPBP_ENST00000378128.3_Silent_p.Y238Y|PARPBP_ENST00000358383.5_Silent_p.Y238Y NM_017915.3 NP_060385.3 Q9NWS1 PR1BP_HUMAN PARP1 binding protein 238 response to DNA damage stimulus cytoplasm|nucleus DNA binding endometrium(1)|lung(8)|urinary_tract(2) 11 GGAAAGGATATGCACCACCAC 0.338000 8 130 0 0 1 0 0 PBX4 80714 broad.mit.edu 37 19 19675809 19675809 + Silent SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr19:19675809C>T ENST00000251203.8 - 6 1144 c.858G>A c.(856-858)acG>acA p.T286T NM_025245.2 NP_079521.1 Q9BYU1 PBX4_HUMAN pre-B-cell leukemia homeobox 4 286 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(4)|ovary(1)|prostate(3) 9 TATCCACAGCCGTTTTACCCG 0.527000 22 263 0 0 1 0 0 JAK1 3716 broad.mit.edu 37 1 65304245 65304245 + Missense_Mutation SNP T T G TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr1:65304245T>G ENST00000342505.4 - 21 3118 c.2870A>C c.(2869-2871)gAa>gCa p.E957A NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 957 Protein kinase 2. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) AGGCAGAAATTCCATGATGAG 0.413000 Mis ALL 18 51 0 0 1 0 0 ARMC5 79798 broad.mit.edu 37 16 31477197 31477197 + Missense_Mutation SNP G G T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr16:31477197G>T ENST00000408912.3 + 7 2493 c.2176G>T c.(2176-2178)Gtt>Ttt p.V726F ARMC5_ENST00000412665.2_Missense_Mutation_p.V275F|ARMC5_ENST00000538189.1_Missense_Mutation_p.V663F|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000268314.4_Missense_Mutation_p.V631F|ARMC5_ENST00000563544.1_Missense_Mutation_p.V631F Q96C12 ARMC5_HUMAN armadillo repeat containing 5 631 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 GAACCTGACGGTTCAGGCTGA 0.637000 5 34 1 1 1 1 0 DOT1L 84444 broad.mit.edu 37 19 2216347 2216347 + Missense_Mutation SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr19:2216347C>T ENST00000398665.3 + 20 2027 c.1991C>T c.(1990-1992)cCg>cTg p.P664L NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 664 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCTGTGTGCCGCCTGACGAC 0.682000 21 67 0 0 1 0 0 TRIM59 286827 broad.mit.edu 37 3 160156358 160156358 + Missense_Mutation SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr3:160156358G>A ENST00000543469.1 - 2 828 c.614C>T c.(613-615)aCg>aTg p.T205M TRIM59_ENST00000309784.4_Missense_Mutation_p.T205M|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.T205M Q8IWR1 TRI59_HUMAN tripartite motif containing 59 205 integral to membrane|intracellular zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3) 15 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) ACAGAGAGCCGTTAGGAAACT 0.358000 117 133 0 0 1 0 0 MRPS15 64960 broad.mit.edu 37 1 36926340 36926340 + Missense_Mutation SNP T T C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr1:36926340T>C ENST00000373116.5 - 5 499 c.338A>G c.(337-339)aAg>aGg p.K113R NM_031280.3 NP_112570.2 P82914 RT15_HUMAN mitochondrial ribosomal protein S15 113 translation mitochondrial small ribosomal subunit|nuclear membrane structural constituent of ribosome breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1) 14 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AACAATCTTCTTCATAAACTG 0.512000 21 46 0 0 1 0 0 ZNF358 140467 broad.mit.edu 37 19 7585034 7585034 + Missense_Mutation SNP G G C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr19:7585034G>C ENST00000597229.1 + 2 1076 c.906G>C c.(904-906)caG>caC p.Q302H CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Missense_Mutation_p.Q302H NM_018083.4 NP_060553.4 Q9NW07 ZN358_HUMAN zinc finger protein 358 302 embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2) 8 CCTTCGGGCAGAGCTCGGCGC 0.701000 18 38 0 0 1 0 0 ANKLE2 23141 broad.mit.edu 37 12 133327346 133327346 + Missense_Mutation SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr12:133327346C>T ENST00000539605.1 - 2 7228 c.544G>A c.(544-546)Gaa>Aaa p.E182K ANKLE2_ENST00000337516.5_Missense_Mutation_p.E244K|ANKLE2_ENST00000357997.5_Missense_Mutation_p.E244K Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 244 cytoplasm|integral to membrane|nuclear envelope NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2) 45 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) TCAGCGTCTTCTCTGGTAGAA 0.393000 33 86 0 0 1 0 0 ZNF334 55713 broad.mit.edu 37 20 45130958 45130958 + Missense_Mutation SNP G G C rs35251052 TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr20:45130958G>C ENST00000457685.2 - 6 2229 c.906C>G c.(904-906)ttC>ttG p.F302L ZNF334_ENST00000347606.4_Missense_Mutation_p.F340L|ZNF334_ENST00000593880.1_Missense_Mutation_p.F363L Q9HCZ1 ZN334_HUMAN zinc finger protein 334 340 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) TGTGTGACCTGAAATGTTCAG 0.438000 16 239 0 0 1 0 0 SMARCD2 6603 broad.mit.edu 37 17 61910996 61910996 + Missense_Mutation SNP A A G TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr17:61910996A>G ENST00000448276.2 - 10 1533 c.1268T>C c.(1267-1269)tTt>tCt p.F423S SMARCD2_ENST00000323347.10_Missense_Mutation_p.F375S|SMARCD2_ENST00000225742.9_Missense_Mutation_p.F348S NM_001098426.1 NP_001091896.1 Q92925 SMRD2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 423 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1) 8 AGAGGCCAGAAAATTGCTCAT 0.582000 18 87 0 0 1 0 0 INPPL1 3636 broad.mit.edu 37 11 71946742 71946742 + Missense_Mutation SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr11:71946742G>A ENST00000298229.2 + 24 2887 c.2683G>A c.(2683-2685)Gag>Aag p.E895K INPPL1_ENST00000541756.1_Missense_Mutation_p.E653K|INPPL1_ENST00000538751.1_Missense_Mutation_p.E653K NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 895 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 TGATAAGGATGAGGCAGGAGC 0.602000 27 51 0 0 1 0 0 SDE2 163859 broad.mit.edu 37 1 226173192 226173192 + Silent SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr1:226173192C>T ENST00000272091.7 - 7 1185 c.1167G>A c.(1165-1167)gcG>gcA p.A389A SDE2_ENST00000366817.1_Silent_p.A294A NM_152608.3 NP_689821.3 SDE2 telomere maintenance homolog (S. pombe) p.A377A(1)|p.A389A(1) CAGAGGTGAACGCCAATAAAT 0.428000 19 70 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179593405 179593405 + Silent SNP C C A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr2:179593405C>A ENST00000589042.1 - 66 19472 c.19248G>T c.(19246-19248)gtG>gtT p.V6416V TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.V5172V|TTN_ENST00000591111.1_Silent_p.V6099V|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6099 Ig-like 45. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TAAGCCATTTCACTTTGAGTT 0.393000 25 44 6.21321e-17 7.16909e-17 1 1 0 KCNK15 60598 broad.mit.edu 37 20 43379120 43379120 + Missense_Mutation SNP G G C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr20:43379120G>C ENST00000372861.3 + 2 765 c.634G>C c.(634-636)Gag>Cag p.E212Q NM_022358.3 NP_071753.2 Q9H427 KCNKF_HUMAN potassium channel, subfamily K, member 15 212 integral to membrane potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(115;0.0122) GCAGAGCGGCGAGGCGCTGCA 0.622000 9 57 0 0 1 0 0 PRCC 5546 broad.mit.edu 37 1 156756871 156756871 + Missense_Mutation SNP A A G TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr1:156756871A>G ENST00000271526.4 + 3 1260 c.988A>G c.(988-990)Agt>Ggt p.S330G PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Missense_Mutation_p.S330G NM_005973.4 NP_005964.3 Q92733 PRCC_HUMAN papillary renal cell carcinoma (translocation-associated) 330 cell cycle|mitotic cell cycle checkpoint nucleus protein binding PRCC/TFE3(25) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1) 15 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AGCAGGTTCAAGTGGGGCCCC 0.567000 T TFE3 papillary renal 41 251 0 0 1 0 0 NUP155 9631 broad.mit.edu 37 5 37363995 37363995 + Silent SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr5:37363995C>T ENST00000231498.3 - 3 590 c.387G>A c.(385-387)gaG>gaA p.E129E NUP155_ENST00000513532.1_Silent_p.E129E|NUP155_ENST00000381843.2_Silent_p.E70E NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 129 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CATACCCATCCTCATAGTTCC 0.393000 41 52 0 0 1 0 0 ACY1 95 broad.mit.edu 37 3 52022615 52022615 + Missense_Mutation SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr3:52022615G>A ENST00000458031.2 + 15 1498 c.1267G>A c.(1267-1269)Gat>Aat p.D423N ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.D434N|ACY1_ENST00000494103.1_Missense_Mutation_p.D261N|ACY1_ENST00000404366.2_Missense_Mutation_p.D333N|ACY1_ENST00000476854.1_Missense_Mutation_p.D268N|ACY1_ENST00000476351.1_Missense_Mutation_p.D298N Q03154 ACY1_HUMAN aminoacylase 1 333 cellular amino acid metabolic process|proteolysis cytosol aminoacylase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) L-Aspartic Acid(DB00128) GGTCTGCAAGGATATGTGAGC 0.592000 12 81 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48256716 48256716 + Silent SNP T T C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr16:48256716T>C ENST00000394747.1 - 5 919 c.570A>G c.(568-570)gaA>gaG p.E190E ABCC11_ENST00000356608.2_Silent_p.E190E|ABCC11_ENST00000537808.1_Silent_p.E190E|ABCC11_ENST00000394748.1_Silent_p.E190E|ABCC11_ENST00000353782.5_Silent_p.E190E NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 190 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CTTCTGAATATTCCAGGATCT 0.443000 16 45 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100779109 100779109 + Silent SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr8:100779109C>T ENST00000358544.2 + 40 7344 c.7233C>T c.(7231-7233)atC>atT p.I2411I VPS13B_ENST00000357162.2_Silent_p.I2386I|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 2411 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TGCCGGATATCAATCTCGTGA 0.383000 8 87 0 0 1 0 0 FIGNL1 63979 broad.mit.edu 37 7 50514663 50514663 + Missense_Mutation SNP T T C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr7:50514663T>C ENST00000419119.1 - 2 1876 c.323A>G c.(322-324)aAt>aGt p.N108S FIGNL1_ENST00000435566.1_3'UTR|FIGNL1_ENST00000433017.1_Missense_Mutation_p.N108S|FIGNL1_ENST00000395556.2_Missense_Mutation_p.N108S|FIGNL1_ENST00000356889.4_Missense_Mutation_p.N108S Q6PIW4 FIGL1_HUMAN fidgetin-like 1 108 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 29 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) TTTGAAAACATTATTTATTGA 0.368000 43 70 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31907070 31907070 + Missense_Mutation SNP A A G TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr6:31907070A>G ENST00000456570.1 + 6 788 c.733A>G c.(733-735)Atc>Gtc p.I245V C2_ENST00000299367.5_Missense_Mutation_p.I398V|CFB_ENST00000556679.1_Missense_Mutation_p.I245V|C2_ENST00000469372.1_Missense_Mutation_p.I152V|CFB_ENST00000477310.1_Missense_Mutation_p.I216V|C2_ENST00000442278.2_Missense_Mutation_p.I266V|C2_ENST00000452323.2_Missense_Mutation_p.I184V P00751 CFAB_HUMAN complement factor B 411 complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 GATCCTGAACATCAACCAGAA 0.468000 9 68 0 0 1 0 0 APOBEC3D 140564 broad.mit.edu 37 22 39427873 39427873 + Missense_Mutation SNP A A G TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr22:39427873A>G ENST00000216099.7 + 6 1344 c.937A>G c.(937-939)Acc>Gcc p.T313A APOBEC3D_ENST00000427494.2_Missense_Mutation_p.T129A|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.T313A NM_152426.3 NP_689639.2 Q96AK3 ABC3D_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D 313 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2) 11 Melanoma(58;0.04) CGTGAATCTCACCATCTTCAC 0.587000 24 104 0 0 1 0 0 SEMA3G 56920 broad.mit.edu 37 3 52469793 52469793 + Nonsense_Mutation SNP G G T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr3:52469793G>T ENST00000231721.2 - 16 2174 c.2175C>A c.(2173-2175)taC>taA p.Y725* NM_020163.1 NP_064548.1 Q9NS98 SEM3G_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 725 multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) CGCGCTCACAGTACTCATCCA 0.687000 26 75 3.6726e-16 4.21063e-16 1 1 0 KIAA0319L 79932 broad.mit.edu 37 1 35936496 35936496 + Missense_Mutation SNP C C A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr1:35936496C>A ENST00000325722.3 - 6 1315 c.1081G>T c.(1081-1083)Ggg>Tgg p.G361W KIAA0319L_ENST00000485551.1_5'UTR NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 361 PKD 1. cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GAATGTTTCCCTTCCATTTCT 0.418000 10 98 6.40141e-05 6.77796e-05 1 1 0 PRKCI 5584 broad.mit.edu 37 3 169940505 169940505 + Silent SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr3:169940505C>T ENST00000295797.4 + 1 353 c.48C>T c.(46-48)ggC>ggT p.G16G NM_002740.5 NP_002731.4 P41743 KPCI_HUMAN protein kinase C, iota 16 Regulatory domain.|Required for interaction with RAB2. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) CGGTCGCAGGCGGCGGCAGCG 0.721000 3 10 0 0 1 0 0 POTEA 340441 broad.mit.edu 37 8 43173690 43173690 + RNA SNP G G C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr8:43173690G>C ENST00000522175.2 + 0 976 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GGTGATGGTGGATTAGTTCCA 0.413000 74 70 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19338281 19338281 + Missense_Mutation SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr19:19338281C>T ENST00000252575.5 + 8 1895 c.1852C>T c.(1852-1854)Ccc>Tcc p.P618S NCAN_ENST00000538881.1_Missense_Mutation_p.P69S NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 618 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CAGCCCTGCCCCCTGGGAGGC 0.647000 5 69 0 0 1 0 0 ZNF608 57507 broad.mit.edu 37 5 123983485 123983485 + Silent SNP C C A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr5:123983485C>A ENST00000306315.5 - 4 3027 c.2592G>T c.(2590-2592)ctG>ctT p.L864L ZNF608_ENST00000504926.1_Silent_p.L437L NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 864 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GTCCATTTGCCAGCCCTTCAT 0.502000 16 98 2.23348e-06 2.43653e-06 1 1 0 ZNF551 90233 broad.mit.edu 37 19 58198984 58198984 + Nonsense_Mutation SNP T T A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr19:58198984T>A ENST00000282296.5 + 3 1526 c.1341T>A c.(1339-1341)taT>taA p.Y447* AC003006.7_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000356715.4_Nonsense_Mutation_p.Y431* NM_001270938.1 NP_001257867.1 Q7Z340 ZN551_HUMAN zinc finger protein 551 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AAAGACCTTATGAATGCAGAG 0.433000 34 89 0 0 1 0 0 ERBB2IP 55914 broad.mit.edu 37 5 65350591 65350591 + Missense_Mutation SNP A A T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr5:65350591A>T ENST00000284037.5 + 21 3834 c.3445A>T c.(3445-3447)Att>Ttt p.I1149F ERBB2IP_ENST00000380936.1_Missense_Mutation_p.I1149F|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.I1149F|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.I1149F|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.I1149F|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.I1145F|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.I1149F|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.I1149F|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.I1149F NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 1149 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) TCGACCCTCTATTAATGAAAT 0.433000 11 55 0 0 1 0 0 EVA1A 84141 broad.mit.edu 37 2 75720529 75720529 + Missense_Mutation SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr2:75720529G>A ENST00000233712.1 - 4 729 c.292C>T c.(292-294)Cgg>Tgg p.R98W EVA1A_ENST00000410113.1_Missense_Mutation_p.R98W|EVA1A_ENST00000393913.3_Missense_Mutation_p.R98W|EVA1A_ENST00000410071.1_Missense_Mutation_p.R98W|EVA1A_ENST00000410010.1_Missense_Mutation_p.R86W|EVA1A_ENST00000490746.1_Intron NM_032181.2 NP_115557.1 eva-1 homolog A (C. elegans) CGGTGTCTCCGCACGGAGAGA 0.637000 19 46 0 0 1 0 0 OR10S1 219873 broad.mit.edu 37 11 123847864 123847864 + Missense_Mutation SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr11:123847864G>A ENST00000531945.1 - 1 624 c.535C>T c.(535-537)Cgc>Tgc p.R179C NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R179C(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TAGAGCAGGCGGAAGGTGAGG 0.552000 17 33 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46245425 46245425 + Silent SNP C C A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr12:46245425C>A ENST00000334344.6 + 15 3691 c.3519C>A c.(3517-3519)acC>acA p.T1173T ARID2_ENST00000444670.1_Silent_p.T783T|ARID2_ENST00000422737.1_Silent_p.T1024T|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1173 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) ACCAGGTAACCATAACAGTTG 0.468000 """N, S, F""" hepatocellular carcinoma 7 90 1.06961e-07 1.18846e-07 1 1 0 KIAA1407 57577 broad.mit.edu 37 3 113723568 113723568 + Missense_Mutation SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr3:113723568C>T ENST00000295878.3 - 11 2040 c.1894G>A c.(1894-1896)Gaa>Aaa p.E632K KIAA1407_ENST00000545063.1_Missense_Mutation_p.E463K NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 632 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 CTTCTGCCTTCAGTCCCAGGG 0.453000 31 175 0 0 1 0 0 MTFR1 9650 broad.mit.edu 37 8 66619352 66619352 + Missense_Mutation SNP G G C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr8:66619352G>C ENST00000262146.4 + 6 751 c.625G>C c.(625-627)Gat>Cat p.D209H MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.D176H NM_014637.3 NP_055452.3 Q15390 MTFR1_HUMAN mitochondrial fission regulator 1 209 mitochondrion|plasma membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1) 11 Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194) ATCTGCTGTTGATCTGATTAA 0.483000 19 100 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71205062 71205062 + Missense_Mutation SNP C C G TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr14:71205062C>G ENST00000554752.2 - 8 1743 c.1744G>C c.(1744-1746)Gag>Cag p.E582Q MAP3K9_ENST00000553414.1_Missense_Mutation_p.E324Q|MAP3K9_ENST00000555993.2_Missense_Mutation_p.E582Q|MAP3K9_ENST00000554146.1_Missense_Mutation_p.E319Q|MAP3K9_ENST00000381250.4_Missense_Mutation_p.E582Q P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 582 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) TCCCCTTCCTCCTTTGGGACG 0.572000 17 85 0 0 1 0 0 RAPGEF1 2889 broad.mit.edu 37 9 134526228 134526228 + Missense_Mutation SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr9:134526228G>A ENST00000372195.1 - 2 413 c.170C>T c.(169-171)tCc>tTc p.S57F RAPGEF1_ENST00000372189.3_Missense_Mutation_p.S40F|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.S58F Q13905 RPGF1_HUMAN Rap guanine nucleotide exchange factor (GEF) 1 40 activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) AATCTTTACGGACACCTCAGC 0.458000 14 150 0 0 1 0 0 ZNF335 63925 broad.mit.edu 37 20 44581078 44581078 + Missense_Mutation SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr20:44581078C>T ENST00000322927.2 - 20 2997 c.2897G>A c.(2896-2898)gGa>gAa p.G966E ZNF335_ENST00000426788.1_Missense_Mutation_p.G811E NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 966 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) TCTGGGCAGTCCCCCACACTG 0.632000 18 58 0 0 1 0 0 HIF1AN 55662 broad.mit.edu 37 10 102295856 102295856 + Missense_Mutation SNP G G C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr10:102295856G>C ENST00000299163.5 + 1 241 c.141G>C c.(139-141)caG>caC p.Q47H NM_017902.2 NP_060372.2 Q9NWT6 HIF1N_HUMAN hypoxia inducible factor 1, alpha subunit inhibitor 47 Interaction with VHL. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1) 10 Colorectal(252;0.234) Epithelial(162;6.75e-10)|all cancers(201;4.88e-08) GTCTGAGTCAGAGCGACCCCC 0.642000 OREG0020442 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 14 0 0 1 0 0 IARS 3376 broad.mit.edu 37 9 95027389 95027389 + Missense_Mutation SNP T T G TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr9:95027389T>G ENST00000375643.3 - 16 1788 c.1522A>C c.(1522-1524)Att>Ctt p.I508L IARS_ENST00000443024.2_Missense_Mutation_p.I508L|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Missense_Mutation_p.I398L NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase 508 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) CGTGAAGGAATGGTCAGGTGG 0.433000 6 23 0 0 1 0 0 KIAA1432 57589 broad.mit.edu 37 9 5769097 5769097 + Missense_Mutation SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr9:5769097G>A ENST00000414202.2 + 22 3456 c.3265G>A c.(3265-3267)Gaa>Aaa p.E1089K KIAA1432_ENST00000418622.3_Missense_Mutation_p.E1010K|KIAA1432_ENST00000251879.6_Missense_Mutation_p.E1089K|KIAA1432_ENST00000449720.2_Missense_Mutation_p.E973K|KIAA1432_ENST00000381532.2_Missense_Mutation_p.E1010K NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 1089 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) GCTGGGCTTTGAACTAATTAG 0.498000 18 178 0 0 1 0 0 SEPT8 23176 broad.mit.edu 37 5 132096852 132096852 + Missense_Mutation SNP C C G TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr5:132096852C>G ENST00000296873.7 - 8 1351 c.1068G>C c.(1066-1068)gaG>gaC p.E356D SEPT8_ENST00000378719.2_Missense_Mutation_p.E356D|SEPT8_ENST00000378721.4_Missense_Mutation_p.E354D|SEPT8_ENST00000458488.2_Missense_Mutation_p.E356D|SEPT8_ENST00000448933.1_Missense_Mutation_p.E296D|SEPT8_ENST00000378699.2_Missense_Mutation_p.E296D|SEPT8_ENST00000378701.1_Missense_Mutation_p.E354D|SEPT8_ENST00000378706.1_Missense_Mutation_p.E356D NM_001098812.1|NM_015146.1 NP_001092282.1|NP_055961.1 Q92599 SEPT8_HUMAN septin 8 356 cell cycle septin complex GTP binding|protein binding SEPT8/AFF4(2) kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCAGCTCCAGCTCTGTCTCCT 0.562000 5 42 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70082307 70082307 + Missense_Mutation SNP T T A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr6:70082307T>A ENST00000370598.1 + 30 5070 c.4249T>A c.(4249-4251)Tca>Aca p.S1417T BAI3_ENST00000238918.8_Missense_Mutation_p.S623T|BAI3_ENST00000546190.1_Missense_Mutation_p.S381T NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1417 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GAGAAGAAAATCACGATATTC 0.214000 7 23 0 0 1 0 0 WDR44 54521 broad.mit.edu 37 X 117538393 117538393 + Missense_Mutation SNP G G C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chrX:117538393G>C ENST00000254029.3 + 9 1762 c.1367G>C c.(1366-1368)aGt>aCt p.S456T WDR44_ENST00000371822.5_Missense_Mutation_p.S431T|WDR44_ENST00000371825.3_Missense_Mutation_p.S456T NM_019045.4 NP_061918.3 Q5JSH3 WDR44_HUMAN WD repeat domain 44 456 cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 33 AAAGTTAAAAGTGTTAGAGAT 0.318000 9 23 0 0 1 0 0 OR4M1 441670 broad.mit.edu 37 14 20249099 20249099 + Silent SNP C C A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr14:20249099C>A ENST00000315957.4 + 1 699 c.618C>A c.(616-618)atC>atA p.I206I NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTGGTCTGATCTCTGTGGTGT 0.473000 21 333 1.50039e-11 1.69856e-11 1 1 0 SLC38A11 151258 broad.mit.edu 37 2 165796058 165796058 + Missense_Mutation SNP C C G TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr2:165796058C>G ENST00000303735.4 - 4 535 c.205G>C c.(205-207)Gaa>Caa p.E69Q SLC38A11_ENST00000409149.3_Missense_Mutation_p.E91Q|SLC38A11_ENST00000409058.1_Missense_Mutation_p.E122Q|SLC38A11_ENST00000409662.1_Missense_Mutation_p.E91Q NM_173512.2 NP_775783.1 Q08AI6 S38AB_HUMAN solute carrier family 38, member 11 91 amino acid transport|sodium ion transport integral to membrane endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 AACACGTTTTCAGGATCAACT 0.328000 6 60 0 0 1 0 0 ANKLE2 23141 broad.mit.edu 37 12 133327347 133327347 + Missense_Mutation SNP T T A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr12:133327347T>A ENST00000539605.1 - 2 7227 c.543A>T c.(541-543)agA>agT p.R181S ANKLE2_ENST00000337516.5_Missense_Mutation_p.R243S|ANKLE2_ENST00000357997.5_Missense_Mutation_p.R243S Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 243 cytoplasm|integral to membrane|nuclear envelope NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2) 45 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) CAGCGTCTTCTCTGGTAGAAA 0.388000 33 88 0 0 1 0 0 VNN1 8876 broad.mit.edu 37 6 133014383 133014383 + Silent SNP G G T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr6:133014383G>T ENST00000367928.4 - 4 619 c.606C>A c.(604-606)acC>acA p.T202T NM_004666.2 NP_004657.2 O95497 VNN1_HUMAN vanin 1 202 CN hydrolase. acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress anchored to membrane|integral to membrane|plasma membrane GPI anchor binding|pantetheine hydrolase activity NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189) AACTTCCAAAGGTGGTATTGA 0.383000 5 79 3.59834e-05 3.85536e-05 1 1 0 GBP7 388646 broad.mit.edu 37 1 89607325 89607325 + Missense_Mutation SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr1:89607325C>T ENST00000294671.2 - 9 1510 c.1372G>A c.(1372-1374)Gag>Aag p.E458K NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 458 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) TGGAGGACCTCGTCTGCCTGA 0.488000 10 61 0 0 1 0 0 TMEM39A 55254 broad.mit.edu 37 3 119153706 119153706 + Missense_Mutation SNP G G C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr3:119153706G>C ENST00000319172.5 - 8 1556 c.1136C>G c.(1135-1137)cCt>cGt p.P379R NM_018266.1 NP_060736.1 Q9NV64 TM39A_HUMAN transmembrane protein 39A 379 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 13 GBM - Glioblastoma multiforme(114;0.244) CACCCCTTGAGGCCATATTGT 0.453000 22 101 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78293223 78293223 + Silent SNP A A T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr17:78293223A>T ENST00000319921.4 + 17 3276 c.3135A>T c.(3133-3135)tcA>tcT p.S1045S RNF213_ENST00000456466.1_Intron|RNF213_ENST00000508628.2_Intron|RNF213_ENST00000582970.1_Intron NM_020954.3 NP_066005.2 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CCGCTAACTCAGAGATTGGGA 0.587000 12 79 0 0 1 0 0 ZNF44 51710 broad.mit.edu 37 19 12384064 12384064 + Missense_Mutation SNP G G C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr19:12384064G>C ENST00000356109.5 - 5 1268 c.1150C>G c.(1150-1152)Cct>Gct p.P384A ZNF44_ENST00000355684.5_Missense_Mutation_p.P336A NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 384 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) CATTTATGAGGTCCATCTCCA 0.408000 40 146 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122420291 122420291 + Missense_Mutation SNP G G A rs76716529 TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr3:122420291G>A ENST00000474629.2 + 6 3156 c.2890G>A c.(2890-2892)Gag>Aag p.E964K NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 964 Macro 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) GGATGTATCTGAGAAGACTGT 0.493000 13 51 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124346146 124346146 + Silent SNP C C T rs147456124 byFrequency TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr8:124346146C>T ENST00000287394.5 - 24 3557 c.3450G>A c.(3448-3450)ccG>ccA p.P1150P ATAD2_ENST00000521903.1_Silent_p.P468P NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 1150 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CAGGAGTACTCGGTGTCTTTA 0.388000 44 67 0 0 1 0 0 MME 4311 broad.mit.edu 37 3 154802000 154802000 + Missense_Mutation SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr3:154802000C>T ENST00000460393.1 + 2 164 c.44C>T c.(43-45)aCt>aTt p.T15I MME_ENST00000493237.1_Missense_Mutation_p.T15I|MME_ENST00000462745.1_Missense_Mutation_p.T15I|MME_ENST00000360490.2_Missense_Mutation_p.T15I|MME_ENST00000492661.1_Missense_Mutation_p.T15I|MME_ENST00000382989.3_Missense_Mutation_p.T15I NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 15 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) GATATCAACACTCCAAAGCCA 0.393000 11 202 0 0 1 0 0 DCT 1638 broad.mit.edu 37 13 95092186 95092186 + Missense_Mutation SNP T T C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr13:95092186T>C ENST00000377028.5 - 8 1939 c.1526A>G c.(1525-1527)cAt>cGt p.H509R DCT_ENST00000446125.1_Missense_Mutation_p.H542R NM_001922.3 NP_001913.2 P40126 TYRP2_HUMAN dopachrome tautomerase 509 epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 50 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) GCTGCTTAAATGTGTCTCCAT 0.453000 25 60 0 0 1 0 0 SURF2 6835 broad.mit.edu 37 9 136227943 136227943 + Silent SNP C C G TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr9:136227943C>G ENST00000371964.4 + 6 740 c.699C>G c.(697-699)ggC>ggG p.G233G NM_017503.3 NP_059973.3 Q15527 SURF2_HUMAN surfeit 2 233 protein binding breast(1)|large_intestine(1)|lung(4) 6 OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05) AGCAGTTGGGCTCGTTGAAAA 0.493000 10 162 0 0 1 0 0 TREM2 54209 broad.mit.edu 37 6 41130791 41130791 + Silent SNP G G C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr6:41130791G>C ENST00000373113.3 - 1 123 c.30C>G c.(28-30)ctC>ctG p.L10L TREM2_ENST00000373122.4_Silent_p.L10L|TREM2_ENST00000338469.3_Silent_p.L10L NM_018965.2 NP_061838.1 Q9NZC2 TREM2_HUMAN triggering receptor expressed on myeloid cells 2 10 axon guidance|humoral immune response extracellular region|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1) 11 Ovarian(28;0.0418)|Colorectal(47;0.196) CTGTGACAAAGAGTAAGATGA 0.582000 7 25 0 0 1 0 0 AGO4 192670 broad.mit.edu 37 1 36282503 36282503 + Nonsense_Mutation SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr1:36282503C>T ENST00000373210.3 + 2 285 c.40C>T c.(40-42)Cag>Tag p.Q14* NM_017629.3 NP_060099.2 argonaute RISC catalytic component 4 TAGCCTGTTTCAGCCACCTCG 0.358000 12 97 0 0 1 0 0 ANGPTL7 10218 broad.mit.edu 37 1 11254561 11254561 + Missense_Mutation SNP T T A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr1:11254561T>A ENST00000376819.3 + 4 955 c.716T>A c.(715-717)gTt>gAt p.V239D ANGPTL7_ENST00000476934.1_Intron|MTOR_ENST00000361445.4_Intron NM_021146.2 NP_066969.1 O43827 ANGL7_HUMAN angiopoietin-like 7 239 Fibrinogen C-terminal. response to oxidative stress|signal transduction extracellular region receptor binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487) AGCCACTTTGTTTTGGGCAAT 0.527000 13 166 0 0 1 0 0 NTN4 59277 broad.mit.edu 37 12 96107023 96107023 + Missense_Mutation SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr12:96107023C>T ENST00000343702.4 - 4 1406 c.958G>A c.(958-960)Gat>Aat p.D320N NTN4_ENST00000538383.1_Missense_Mutation_p.D283N|NTN4_ENST00000344911.4_Missense_Mutation_p.D283N|NTN4_ENST00000553059.1_Missense_Mutation_p.D320N NM_021229.3 NP_067052.2 Q9HB63 NET4_HUMAN netrin 4 320 Laminin EGF-like 1. axon guidance basement membrane|plasma membrane NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 GTTTTGCCATCAGCTGCCTCC 0.517000 10 55 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87641148 87641148 + Splice_Site SNP T T C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr8:87641148T>C ENST00000320005.5 - 12 1526 c.1480_splice c.e12+1 p.L493_splice NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 493 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 CATGCTTACCTAGCATTCTTT 0.383000 14 198 0 0 1 0 0 CDC5L 988 broad.mit.edu 37 6 44413455 44413455 + Missense_Mutation SNP A A T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr6:44413455A>T ENST00000371477.3 + 15 2454 c.2155A>T c.(2155-2157)Att>Ttt p.I719F NM_001253.3 NP_001244.1 Q99459 CDC5L_HUMAN cell division cycle 5-like 719 Interaction with PLRG1. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GAAGATGAAAATTTTGCTTGG 0.463000 18 65 0 0 1 0 0 CLEC18B 497190 broad.mit.edu 37 16 74447558 74447558 + Nonsense_Mutation SNP G G C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr16:74447558G>C ENST00000339953.5 - 4 594 c.473C>G c.(472-474)tCa>tGa p.S158* NM_001011880.2 NP_001011880.2 Q6UXF7 CL18B_HUMAN C-type lectin domain family 18, member B 158 SCP. extracellular region sugar binding endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 CAGCTGGCTTGAGGTGGCCCA 0.602000 23 147 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 6 111 0 0 1 0 0 NUBP2 10101 broad.mit.edu 37 16 1838664 1838664 + Silent SNP C C A rs147565674 TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr16:1838664C>A ENST00000262302.9 + 7 885 c.765C>A c.(763-765)ctC>ctA p.L255L NUBP2_ENST00000543305.1_Silent_p.L114L|NUBP2_ENST00000565987.1_Silent_p.L195L|NUBP2_ENST00000568706.1_Silent_p.L114L NM_012225.2 NP_036357.1 Q9Y5Y2 NUBP2_HUMAN nucleotide binding protein 2 255 microtubule organizing center|nucleus 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 TCGCTGCACTCACCTCCATAG 0.667000 7 21 2.0095e-06 2.20555e-06 1 1 0 RUSC2 9853 broad.mit.edu 37 9 35555103 35555103 + Missense_Mutation SNP G G C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr9:35555103G>C ENST00000455600.1 + 3 2630 c.2061G>C c.(2059-2061)caG>caC p.Q687H NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 687 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) GCAAGGAACAGAGGCCAACCA 0.582000 32 89 0 0 1 0 0 OCM 654231 broad.mit.edu 37 7 5922148 5922148 + Missense_Mutation SNP A A T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr7:5922148A>T ENST00000242104.5 + 2 178 c.86A>T c.(85-87)aAa>aTa p.K29I OCM_ENST00000416608.1_Missense_Mutation_p.K29I NM_001097622.1 NP_001091091.1 P0CE72 ONCO_HUMAN oncomodulin 29 calcium ion binding endometrium(1)|large_intestine(3)|lung(2) 6 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14) GAACCCCAAAAATTCTTCCAG 0.453000 34 94 0 0 1 0 0 HNRNPA3 220988 broad.mit.edu 37 2 178082558 178082558 + Missense_Mutation SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr2:178082558G>A ENST00000411529.2 + 8 931 c.880G>A c.(880-882)Gga>Aga p.G294R HNRNPA3_ENST00000435711.1_Missense_Mutation_p.G316R|HNRNPA3_ENST00000392524.2_Missense_Mutation_p.G316R NM_194247.2 NP_919223.1 P51991 ROA3_HUMAN heterogeneous nuclear ribonucleoprotein A3 316 Gly-rich. catalytic step 2 spliceosome|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1) 16 CAATGAAGGAGGAAATTTTGG 0.403000 34 125 0 0 1 0 0 APP 351 broad.mit.edu 37 21 27269970 27269970 + Missense_Mutation SNP T T C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr21:27269970T>C ENST00000358918.3 - 15 2124 c.1925A>G c.(1924-1926)aAt>aGt p.N642S APP_ENST00000354192.3_Missense_Mutation_p.N529S|APP_ENST00000359726.3_Missense_Mutation_p.N604S|APP_ENST00000348990.5_Missense_Mutation_p.N585S|APP_ENST00000448388.2_Missense_Mutation_p.N550S|APP_ENST00000357903.3_Missense_Mutation_p.N641S|APP_ENST00000346798.3_Missense_Mutation_p.N660S|APP_ENST00000439274.2_Missense_Mutation_p.N604S|APP_ENST00000440126.3_Missense_Mutation_p.N636S NM_001204301.1|NM_001204302.1 NP_001191230.1|NP_001191231.1 P05067 A4_HUMAN amyloid beta (A4) precursor protein 660 adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) CGTCTTGATATTTGTCAACCC 0.348000 40 117 0 0 1 0 0 CCDC39 339829 broad.mit.edu 37 3 180337659 180337659 + Missense_Mutation SNP G G C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr3:180337659G>C ENST00000442201.2 - 15 2217 c.2098C>G c.(2098-2100)Caa>Gaa p.Q700E CCDC39_ENST00000273654.4_Intron NM_181426.1 NP_852091.1 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 700 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TTCAGCACTTGAAGGGTATTT 0.348000 10 34 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85399943 85399943 + Silent SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr15:85399943G>A ENST00000258888.5 + 6 2747 c.2580G>A c.(2578-2580)caG>caA p.Q860Q NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 860 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) GGAGTGCACAGAAGGGCATGA 0.542000 5 46 0 0 1 0 0 SLC2A3 6515 broad.mit.edu 37 12 8077033 8077033 + Silent SNP C C G TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr12:8077033C>G ENST00000075120.7 - 8 1281 c.1041G>C c.(1039-1041)acG>acC p.T347T NM_006931.2 NP_008862.1 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose transporter), member 3 347 carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Kidney(36;0.0866) CAGTCATGAGCGTGGAACAAA 0.438000 12 59 0 0 1 0 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 6 43 0 0 1 0 0 PBDC1 51260 broad.mit.edu 37 X 75395436 75395436 + Silent SNP A A G TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chrX:75395436A>G ENST00000373358.3 + 4 488 c.285A>G c.(283-285)gaA>gaG p.E95E PBDC1_ENST00000373357.3_Silent_p.E95E NM_016500.3 NP_057584.2 polysaccharide biosynthesis domain containing 1 TCAAGTCAGAATCAGCCAAAG 0.328000 13 17 0 0 1 0 0 ARHGEF3 50650 broad.mit.edu 37 3 56766330 56766330 + Silent SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr3:56766330G>A ENST00000413728.2 - 9 1725 c.1182C>T c.(1180-1182)gaC>gaT p.D394D ARHGEF3_ENST00000496106.1_Silent_p.D394D|ARHGEF3_ENST00000296315.3_Silent_p.D388D|ARHGEF3_ENST00000338458.4_Silent_p.D420D|ARHGEF3_ENST00000497267.1_Silent_p.D359D|ARHGEF3_ENST00000495373.1_Silent_p.D388D NM_001128616.1 NP_001122088.1 Q9NR81 ARHG3_HUMAN Rho guanine nucleotide exchange factor (GEF) 3 388 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) CATCCTGGAGGTCTTCCAGCA 0.542000 26 87 0 0 1 0 0 GINS2 51659 broad.mit.edu 37 16 85721167 85721167 + Missense_Mutation SNP G G C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr16:85721167G>C ENST00000253462.3 - 2 204 c.104C>G c.(103-105)cCt>cGt p.P35R NM_016095.2 NP_057179.1 Q9Y248 PSF2_HUMAN GINS complex subunit 2 (Psf2 homolog) 35 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle nucleoplasm protein binding endometrium(2)|large_intestine(2)|lung(2) 6 AGGGTTAAAAGGCCCCAGGTC 0.468000 7 55 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112673334 112673334 + Missense_Mutation SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr12:112673334G>A ENST00000550722.1 - 36 5656 c.5261C>T c.(5260-5262)gCa>gTa p.A1754V HECTD4_ENST00000377560.5_Missense_Mutation_p.A1728V|HECTD4_ENST00000430131.2_Missense_Mutation_p.A1478V NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TGCCAGCTTTGCTAAGAGCAG 0.567000 16 43 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109382596 109382596 + Silent SNP A A G TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr2:109382596A>G ENST00000283195.6 + 20 5727 c.5601A>G c.(5599-5601)gaA>gaG p.E1867E NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1867 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TGGATCAAGAAAATTCACCTT 0.358000 85 203 0 0 1 0 0 SRSF6 6431 broad.mit.edu 37 20 42088499 42088499 + Missense_Mutation SNP A A T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr20:42088499A>T ENST00000244020.3 + 3 451 c.345A>T c.(343-345)gaA>gaT p.E115D NM_006275.5 NP_006266.2 Q13247 SRSF6_HUMAN serine/arginine-rich splicing factor 6 115 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2) 5 TTATTGTAGAAAATCTTTCTA 0.378000 39 103 0 0 1 0 0 TLR9 54106 broad.mit.edu 37 3 52263740 52263740 + Nonsense_Mutation SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr3:52263740G>A ENST00000494383.1 - 4 399 c.400C>T c.(400-402)Cag>Tag p.Q134* TWF2_ENST00000305533.5_Silent_p.S273S|TWF2_ENST00000499914.2_Intron|TLR9_ENST00000597542.1_Silent_p.S4S Q9NR96 TLR9_HUMAN toll-like receptor 9 0 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) TCTTGCAGCTGGAGTAGAGCA 0.622000 13 67 0 0 1 0 0 C1QTNF3 114899 broad.mit.edu 37 5 34033477 34033477 + Nonsense_Mutation SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr5:34033477G>A ENST00000382065.3 - 3 1208 c.502C>T c.(502-504)Cga>Tga p.R168* C1QTNF3_ENST00000231338.7_Nonsense_Mutation_p.R95* NM_181435.5 NP_852100.3 Q9BXJ4 C1QT3_HUMAN C1q and tumor necrosis factor related protein 3 95 C1q. collagen breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1) 17 all_lung(31;0.0207) CGCTCCCCTCGAGGCCCCAGG 0.562000 22 78 0 0 1 0 0 LTK 4058 broad.mit.edu 37 15 41804923 41804923 + Missense_Mutation SNP G G C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr15:41804923G>C ENST00000263800.6 - 3 437 c.341C>G c.(340-342)cCg>cGg p.P114R LTK_ENST00000355166.5_Missense_Mutation_p.P114R|LTK_ENST00000561619.1_Intron|LTK_ENST00000453182.2_Missense_Mutation_p.P114R NM_002344.5 NP_002335.2 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase 114 apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1) 26 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) GCCAGGGCCCGGCACGCGCCA 0.662000 TSP Lung(18;0.14) 6 20 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197073087 197073087 + Missense_Mutation SNP C C G TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr1:197073087C>G ENST00000367409.4 - 18 5550 c.5294G>C c.(5293-5295)aGa>aCa p.R1765T ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1765 IQ 7. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 CCGAGCCTTTCTCATTCTGAA 0.358000 48 167 0 0 1 0 0 OR6B2 389090 broad.mit.edu 37 2 240969460 240969460 + Silent SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr2:240969460C>T ENST00000402971.2 - 1 446 c.387G>A c.(385-387)ccG>ccA p.P129P NM_001005853.1 NP_001005853.1 Q6IFH4 OR6B2_HUMAN olfactory receptor, family 6, subfamily B, member 2 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1) 15 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) GGTAGCGCAGCGGGTGGCAGA 0.597000 4 31 0 0 1 0 0 ACTL8 81569 broad.mit.edu 37 1 18149579 18149579 + Nonsense_Mutation SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr1:18149579C>T ENST00000375406.1 + 2 292 c.76C>T c.(76-78)Cag>Tag p.Q26* NM_030812.2 NP_110439.2 Q9H568 ACTL8_HUMAN actin-like 8 26 cytoplasm|cytoskeleton NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) GAATGAGCCTCAGATGGTCTT 0.597000 21 59 0 0 1 0 0 GRK4 2868 broad.mit.edu 37 4 3031042 3031042 + Missense_Mutation SNP A A T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr4:3031042A>T ENST00000398052.4 + 12 1518 c.1175A>T c.(1174-1176)aAa>aTa p.K392I GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000398051.4_Missense_Mutation_p.K360I|GRK4_ENST00000345167.6_Missense_Mutation_p.K360I|GRK4_ENST00000504933.1_Missense_Mutation_p.K392I NM_182982.2 NP_892027.2 P32298 GRK4_HUMAN G protein-coupled receptor kinase 4 392 Protein kinase. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1)|upper_aerodigestive_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TACAAAGAGAAAGTCAAATGG 0.393000 23 53 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56246469 56246469 + Missense_Mutation SNP C C G TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr18:56246469C>G ENST00000361673.3 - 4 1752 c.1539G>C c.(1537-1539)gaG>gaC p.E513D NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 513 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CAGCTGCCGTCTCCCAACACT 0.517000 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 158 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15496481 15496481 + Missense_Mutation SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr2:15496481G>A ENST00000281513.5 - 33 3902 c.3877C>T c.(3877-3879)Cgc>Tgc p.R1293C NBAS_ENST00000441750.1_Missense_Mutation_p.R1173C NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1293 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 TCATGGAAGCGAAGTGCCTGC 0.448000 18 42 0 0 1 0 0 PEX11G 92960 broad.mit.edu 37 19 7550722 7550722 + Splice_Site SNP A A C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr19:7550722A>C ENST00000593942.1 - 4 542 c.e4+1 PEX11G_ENST00000221480.1_Splice_Site Q96HA9 PX11C_HUMAN peroxisomal biogenesis factor 11 gamma integral to membrane|peroxisomal membrane central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 7 AAACCCTGTTACCTGTGCCCC 0.512000 7 108 0 0 1 0 0 IGKV5-2 28907 broad.mit.edu 37 2 89197097 89197097 + RNA SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr2:89197097G>A ENST00000390244.2 + 0 205 AGCCAGCCAAGACATTGATGA 0.463000 36 88 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8639305 8639305 + Missense_Mutation SNP A A C TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr20:8639305A>C ENST00000378641.3 + 9 1291 c.816A>C c.(814-816)caA>caC p.Q272H PLCB1_ENST00000378637.2_Missense_Mutation_p.Q272H|PLCB1_ENST00000338037.6_Missense_Mutation_p.Q272H NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 272 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 AGCAAGTCCAAGTATTGATTG 0.413000 36 87 0 0 1 0 0 NHLRC1 378884 broad.mit.edu 37 6 18122653 18122653 + Missense_Mutation SNP C C T TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr6:18122653C>T ENST00000340650.3 - 1 198 c.185G>A c.(184-186)cGc>cAc p.R62H NM_198586.2 NP_940988.2 Q6VVB1 NHLC1_HUMAN NHL repeat containing 1 62 proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination endoplasmic reticulum|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2) 11 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.165) all cancers(50;0.0451)|Epithelial(50;0.0493) GGCCAGAGTGCGCGGGTGCGC 0.701000 3 17 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228558406 228558406 + Frame_Shift_Del DEL C C - TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr1:228558406delC ENST00000570156.2 + 104 23138 c.23064delC c.(23062-23064)cafs p.H7688fs OBSCN_ENST00000422127.1_Frame_Shift_Del_p.H6731fs|OBSCN_ENST00000366707.4_Frame_Shift_Del_p.H4365fs NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6731 Protein kinase 2. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGGAGGCCCACTTCATCAACA 0.612 11 89 --- --- --- --- CHML 1122 broad.mit.edu 37 1 241798371 241798381 + Frame_Shift_Del DEL AAATCAATATT AAATCAATATT - TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr1:241798371_241798381delAAATCAATATT ENST00000366553.1 - 1 851_861 c.688_698delAATATTGATTT c.(688-699)gfs p.NIDL230fs OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron NM_001821.3 NP_001812.2 P26374 RAE2_HUMAN choroideremia-like (Rab escort protein 2) 230 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1) 26 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) TTTTGACACCAAATCAATATTAAACCTCCTG 0.313 39 128 --- --- --- --- AC011747.6 0 broad.mit.edu 37 2 8743629 8743629 + RNA DEL A A - TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr2:8743629delA ENST00000425678.1 - 0 439 TGTTTGTACTAAAAAAAAAAA 0.289 3 3 --- --- --- --- PUS10 150962 broad.mit.edu 37 2 61181120 61181120 + Frame_Shift_Del DEL T T - TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr2:61181120delT ENST00000316752.6 - 14 1399 c.1138delA c.(1138-1140)ttfs p.I380fs PUS10_ENST00000407787.1_Frame_Shift_Del_p.I380fs NM_144709.2 NP_653310.2 Q3MIT2 PUS10_HUMAN pseudouridylate synthase 10 380 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2) 22 LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113) GAGTTATTAATTTTCTGTAGT 0.378 13 69 --- --- --- --- DNAJC13 23317 broad.mit.edu 37 3 132249931 132249931 + Frame_Shift_Del DEL A A - TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr3:132249931delA ENST00000260818.6 + 55 6863 c.6615delA c.(6613-6615)ggfs p.G2205fs NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 2205 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 AAACAGCAGGATACCTCACAG 0.413 10 100 --- --- --- --- LINC01322 103695433 broad.mit.edu 37 3 165320478 165320481 + RNA DEL TATA TATA - rs150429698 TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr3:165320478_165320481delTATA ENST00000496693.1 + 0 508 atttttattttatatatatatata 0.314 6 10 --- --- --- --- UBAP2 55833 broad.mit.edu 37 9 33943557 33943560 + Frame_Shift_Del DEL AACC AACC - TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr9:33943557_33943560delAACC ENST00000379238.1 - 15 1690_1693 c.1573_1576delGGTT c.(1573-1578)cafs p.GS525fs UBAP2_ENST00000539807.1_Frame_Shift_Del_p.GS280fs|UBAP2_ENST00000379239.4_Frame_Shift_Del_p.GS258fs|UBAP2_ENST00000360802.1_Frame_Shift_Del_p.GS525fs|UBAP2_ENST00000379225.1_Frame_Shift_Del_p.GS158fs|UBAP2_ENST00000449054.1_Frame_Shift_Del_p.GS525fs|UBAP2_ENST00000418786.2_Frame_Shift_Del_p.GS472fs Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 525 endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) ACATCTGCTGAACCAGGCATTTCC 0.471 12 71 --- --- --- --- ARHGAP5 394 broad.mit.edu 37 14 32560921 32560921 + Frame_Shift_Del DEL T T - TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr14:32560921delT ENST00000345122.3 + 2 1361 c.1046delT c.(1045-1047)ctfs p.L350fs ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.L350fs|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.L350fs|ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.L350fs|ARHGAP5_ENST00000396582.2_Intron NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 350 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TTTAACACTCTTTTGCCAAAT 0.313 60 171 --- --- --- --- RP5-991G20.1 0 broad.mit.edu 37 16 72763869 72763870 + RNA DEL AA AA - TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr16:72763869_72763870delAA ENST00000563328.2 + 0 164 GGTCCAAAACAAAAAAAAAAAA 0.431 2 4 --- --- --- --- ZNF699 374879 broad.mit.edu 37 19 9407234 9407255 + Frame_Shift_Del DEL TTTACATTCATAGTTTGTCTTT TTTACATTCATAGTTTGTCTTT - TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 200d5ad1-bd1f-4068-a4e4-4b6a3aaaf92d df122b02-6d09-4441-af8a-cae70fd20fff g.chr19:9407234_9407255delTTTACATTCATAGTTTGTCTTT ENST00000591998.1 - 6 1053_1074 c.825_846delAAAGACAAACTATGAATGTAAA c.(823-846)ggfs p.GKTNYECK275fs ZNF699_ENST00000308650.3_Frame_Shift_Del_p.GKTNYECK275fs Q32M78 ZN699_HUMAN zinc finger protein 699 275 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCCCACATTCTTTACATTCATAGTTTGTCTTTCCGATGTGAA 0.410 7 113 --- --- --- ---