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 ANKRD40 91369 broad.mit.edu 37 17 48777244 48777244 + Missense_Mutation SNP T T A rs17358273 TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr17:48777244T>A ENST00000285243.6 - 3 563 c.294A>T c.(292-294)gaA>gaT p.E98D NM_052855.3 NP_443087.1 Q6AI12 ANR40_HUMAN ankyrin repeat domain 40 98 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1) 11 BRCA - Breast invasive adenocarcinoma(22;2.03e-09) catcatcatcTTCTTCTTCCA 0.398000 4 15 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8161784 8161784 + Silent SNP C C T rs80293030 byFrequency TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr19:8161784C>T ENST00000600128.1 - 43 5808 c.5394G>A c.(5392-5394)tcG>tcA p.S1798S FBN3_ENST00000601739.1_Silent_p.S1798S|FBN3_ENST00000270509.2_Silent_p.S1798S Q75N90 FBN3_HUMAN fibrillin 3 1798 EGF-like 27; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent p.S1798S(1) NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CCCCGCCTGGCGACAGTTTGT 0.617000 14 43 0 0 1 0 0 SERPINA4 5267 broad.mit.edu 37 14 95030303 95030303 + Missense_Mutation SNP G G A TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr14:95030303G>A ENST00000557004.1 + 2 905 c.484G>A c.(484-486)Gtc>Atc p.V162I SERPINA4_ENST00000555095.1_Missense_Mutation_p.V162I|SERPINA4_ENST00000298841.5_Missense_Mutation_p.V162I|SERPINA5_ENST00000553780.1_Intron P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 162 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) CACCATGGCCGTCTATGAGGC 0.522000 46 94 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155896893 155896893 + Splice_Site SNP A A C TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr1:155896893A>C ENST00000368320.3 - 5 543 c.e5+1 KIAA0907_ENST00000368319.3_Splice_Site|KIAA0907_ENST00000368321.3_Splice_Site|KIAA0907_ENST00000482337.1_Splice_Site Q7Z7F0 K0907_HUMAN KIAA0907 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) AACATTACTTACTGTCCACTA 0.423000 4 86 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146625931 146625931 + Missense_Mutation SNP C C T TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr6:146625931C>T ENST00000392299.2 + 4 1605 c.1135C>T c.(1135-1137)Cgc>Tgc p.R379C GRM1_ENST00000355289.4_Missense_Mutation_p.R379C|GRM1_ENST00000507907.1_Missense_Mutation_p.R379C|GRM1_ENST00000492807.2_Missense_Mutation_p.R379C|GRM1_ENST00000361719.2_Missense_Mutation_p.R379C|GRM1_ENST00000282753.1_Missense_Mutation_p.R379C Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 379 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GTTCCAGTGCCGCCTTCCAGG 0.458000 14 36 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 3 27 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237586430 237586430 + Missense_Mutation SNP G G A TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr1:237586430G>A ENST00000366574.2 + 12 1204 c.887G>A c.(886-888)cGa>cAa p.R296Q RYR2_ENST00000542537.1_Missense_Mutation_p.R280Q|RYR2_ENST00000360064.6_Missense_Mutation_p.R294Q NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 296 MIR 4. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAGCCATTCCGACTACGCCAT 0.418000 5 60 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11736314 11736314 + Missense_Mutation SNP T T C TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr2:11736314T>C ENST00000381486.2 + 13 2203 c.1903T>C c.(1903-1905)Tct>Cct p.S635P GREB1_ENST00000234142.5_Missense_Mutation_p.S635P NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 635 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CGCTGCCTCTTCTGTCACTAA 0.478000 6 66 0 0 1 0 0 OR5F1 338674 broad.mit.edu 37 11 55761635 55761635 + Missense_Mutation SNP A A T TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr11:55761635A>T ENST00000278409.1 - 1 466 c.467T>A c.(466-468)tTc>tAc p.F156Y NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) GTTGACCATGAAGTTCAGCAA 0.502000 7 64 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 3 27 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 3 48 0.00024832 0.000265251 1 1 0 FAT3 120114 broad.mit.edu 37 11 92495335 92495335 + Splice_Site SNP C C T TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr11:92495335C>T ENST00000298047.6 + 4 4000 c.3984_splice c.e4+1 p.T1328_splice RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000409404.2_Splice_Site_p.T1328_splice|FAT3_ENST00000525166.1_Splice_Site_p.T1178_splice Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1328 Cadherin 12. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GACATCCTAACGGTAAGATCT 0.398000 TCGA Ovarian(4;0.039) 3 28 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21478535 21478535 + Silent SNP T T G TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr3:21478535T>G ENST00000281523.2 - 5 1118 c.600A>C c.(598-600)gcA>gcC p.A200A ZNF385D_ENST00000494118.1_5'UTR NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 200 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 GAAGCCGTTTTGCCTTTTCTT 0.478000 8 82 0 0 1 0 0 EIF4ENIF1 56478 broad.mit.edu 37 22 31854494 31854494 + Missense_Mutation SNP G G T TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr22:31854494G>T ENST00000397525.1 - 7 1153 c.930C>A c.(928-930)ttC>ttA p.F310L EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.F147L|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.F310L|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.F310L NM_001164501.1 NP_001157973.1 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E nuclear import factor 1 310 nucleus protein binding|protein transporter activity p.F310L(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CAAGGTTAAAGAACTCATTAA 0.468000 4 36 0.00909568 0.00909568 1 1 0 SNHG14 0 broad.mit.edu 37 15 25232034 25232034 + RNA SNP T T C rs7171986 TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr15:25232034T>C ENST00000551631.2 + 0 887 SNHG14_ENST00000551361.1_RNA NR_001293.1 cacgtgtgtgtgtgtgtgtgt 0.443000 4 26 0 0 1 0 0 SHC1 6464 broad.mit.edu 37 1 154940985 154940985 + Missense_Mutation SNP C C T TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr1:154940985C>T ENST00000448116.2 - 4 956 c.736G>A c.(736-738)Gca>Aca p.A246T SHC1_ENST00000368445.5_Missense_Mutation_p.A246T|SHC1_ENST00000368450.1_Missense_Mutation_p.A136T|SHC1_ENST00000368453.4_Missense_Mutation_p.A136T|SHC1_ENST00000606391.1_Missense_Mutation_p.A47T|SHC1_ENST00000368449.4_Missense_Mutation_p.A17T NM_001130040.1 NP_001123512.1 P29353 SHC1_HUMAN SHC (Src homology 2 domain containing) transforming protein 1 246 PID. activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth cytosol|mitochondrial matrix|Shc-EGFR complex epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TTGCAGTCTGCGGCCATGAGG 0.552000 5 235 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31414872 31414872 + Nonsense_Mutation SNP C C T TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr16:31414872C>T ENST00000389202.2 + 7 659 c.610C>T c.(610-612)Caa>Taa p.Q204* RP11-120K18.2_ENST00000567545.1_RNA NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 204 VWFA. cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 CACCTTCACCCAATTCCGGAC 0.577000 6 68 0 0 1 0 0 TSGA13 114960 broad.mit.edu 37 7 130356540 130356540 + Missense_Mutation SNP T T C TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr7:130356540T>C ENST00000456951.1 - 8 1470 c.619A>G c.(619-621)Acc>Gcc p.T207A TSGA13_ENST00000356588.3_Missense_Mutation_p.T207A Q96PP4 TSG13_HUMAN testis specific, 13 207 endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(18;0.0435) GGAGCAAAGGTGAGCTGAGGG 0.423000 25 115 0 0 1 0 0 CNR1 0 broad.mit.edu 37 6 88854286 88854286 + Silent SNP C C T TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr6:88854286C>T ENST00000537554.1 - 2 4270 c.708G>A c.(706-708)gcG>gcA p.A236A CNR1_ENST00000549890.1_Silent_p.A236A|CNR1_ENST00000468898.1_Silent_p.A203A|CNR1_ENST00000369501.2_Silent_p.A236A|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Silent_p.A236A|CNR1_ENST00000535130.1_Silent_p.A236A|CNR1_ENST00000428600.2_Silent_p.A236A|CNR1_ENST00000549716.1_Silent_p.A175A NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 236 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding p.A236A(2) breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) TCAGGCAAAACGCCACCACGG 0.562000 3 42 0 0 1 0 0 ERCC6-PGBD3 0 broad.mit.edu 37 10 50724106 50724106 + Missense_Mutation SNP T T C TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr10:50724106T>C ENST00000515869.1 - 6 2579 c.2459A>G c.(2458-2460)aAt>aGt p.N820S PGBD3_ENST00000603152.1_Missense_Mutation_p.N820S|PGBD3_ENST00000508005.2_Missense_Mutation_p.N352S|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.N820S|PGBD3_ENST00000374127.3_Missense_Mutation_p.N352S NM_001277059.1 NP_001263988.1 GAAAAAGTTATTGAATACAAA 0.423000 19 67 0 0 1 0 0 ADAM21P1 0 broad.mit.edu 37 14 70714259 70714259 + RNA SNP A A G rs7144638 by1000genomes TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr14:70714259A>G ENST00000530196.1 - 0 259 NR_003951.1 CACCACTTCCAGGGAAGTGAA 0.527000 4 96 0 0 1 0 0 BTN3A3 10384 broad.mit.edu 37 6 26452501 26452501 + Silent SNP C C T TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr6:26452501C>T ENST00000244519.2 + 11 1860 c.1617C>T c.(1615-1617)ggC>ggT p.G539G BTN3A3_ENST00000339789.4_Silent_p.G497G|BTN3A3_ENST00000361232.3_Silent_p.G490G NM_006994.4 NP_008925.1 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 539 integral to membrane cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 TGACCCCGGGCTTAGCTAATG 0.547000 4 38 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161618 90161618 + RNA SNP C C T rs13338202 by1000genomes TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr16:90161618C>T ENST00000564451.1 + 0 971 TUBB8P7_ENST00000567960.1_RNA p.D118D(2) CAGTGATGGACGTTGTCAGAA 0.607000 5 36 0 0 1 0 0 CCR9 10803 broad.mit.edu 37 3 45943240 45943240 + Silent SNP G G C TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr3:45943240G>C ENST00000357632.2 + 3 1140 c.960G>C c.(958-960)gtG>gtC p.V320V CCR9_ENST00000422395.1_3'UTR|CCR9_ENST00000395963.2_Silent_p.V308V|CCR9_ENST00000355983.2_Silent_p.V308V|LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Intron NM_001256369.1|NM_031200.2 NP_001243298.1|NP_112477.1 P51686 CCR9_HUMAN chemokine (C-C motif) receptor 9 320 cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214) ATGTTTTTGTGGGTGAGAGAT 0.517000 20 44 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6202222 6202222 + Missense_Mutation SNP G G A TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr1:6202222G>A ENST00000262450.3 - 15 2501 c.2402C>T c.(2401-2403)gCc>gTc p.A801V CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 801 Helicase ATP-binding. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) ACTCCGAATGGCGTTGTCCTC 0.577000 15 199 0 0 1 0 0 KRT36 8689 broad.mit.edu 37 17 39643395 39643395 + Missense_Mutation SNP C C T TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr17:39643395C>T ENST00000393986.2 - 7 1077 c.865G>A c.(865-867)Gaa>Aaa p.E289K KRT36_ENST00000328119.6_Missense_Mutation_p.E339K O76013 KRT36_HUMAN keratin 36 339 Coil 2.|Rod. intermediate filament protein binding|structural constituent of epidermis breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1) 17 Breast(137;0.000286) GCCTCGGTTTCGGCCAGGGTG 0.622000 9 85 0 0 1 0 0 LHX4 89884 broad.mit.edu 37 1 180241031 180241031 + Missense_Mutation SNP G G A rs138365963 TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr1:180241031G>A ENST00000263726.2 + 5 912 c.668G>A c.(667-669)cGc>cAc p.R223H RP5-1180C10.2_ENST00000415414.1_RNA NM_033343.3 NP_203129.1 Q969G2 LHX4_HUMAN LIM homeobox 4 223 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1) 16 GGGCGGCACCGCTGGGGGCAG 0.582000 5 93 0 0 1 0 0 SPERT 220082 broad.mit.edu 37 13 46287491 46287491 + Missense_Mutation SNP G G A TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr13:46287491G>A ENST00000378966.3 + 2 639 c.223G>A c.(223-225)Gac>Aac p.D75N SPERT_ENST00000310521.1_Missense_Mutation_p.D111N Q8NA61 SPERT_HUMAN spermatid associated 111 cytoplasmic membrane-bounded vesicle NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 15 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) GTCCCAGGCCGACCTGGAGCT 0.652000 6 46 0 0 1 0 0 AASS 10157 broad.mit.edu 37 7 121726065 121726065 + Splice_Site SNP C C A TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr7:121726065C>A ENST00000393376.1 - 18 2280 c.e18+1 AASS_ENST00000417368.2_Splice_Site|AASS_ENST00000473553.1_Splice_Site Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) CAGCTGCTTACCTTATATCTC 0.368000 17 69 4.96729e-08 5.42936e-08 1 1 0 MAMDC4 158056 broad.mit.edu 37 9 139748340 139748340 + Missense_Mutation SNP G G A TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr9:139748340G>A ENST00000445819.1 + 5 616 c.566G>A c.(565-567)cGc>cAc p.R189H MAMDC4_ENST00000317446.2_Missense_Mutation_p.R189H|MAMDC4_ENST00000485732.1_3'UTR Q6UXC1 AEGP_HUMAN MAM domain containing 4 189 MAM 1. protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) ACCACAGGCCGCATCCGGGGT 0.662000 3 55 0 0 1 0 0 TMEM164 84187 broad.mit.edu 37 X 109416587 109416587 + Missense_Mutation SNP G G C TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chrX:109416587G>C ENST00000372073.1 + 7 1138 c.802G>C c.(802-804)Ggg>Cgg p.G268R TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000372072.3_Missense_Mutation_p.G119R|TMEM164_ENST00000288381.4_Missense_Mutation_p.G229R|TMEM164_ENST00000372068.2_Missense_Mutation_p.G268R Q5U3C3 TM164_HUMAN transmembrane protein 164 268 integral to membrane cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1) 14 CATGACCCACGGGAAGCTGGT 0.532000 19 29 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 3 43 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 3 14 0 0 1 0 0 CDKL2 8999 broad.mit.edu 37 4 76522237 76522237 + Missense_Mutation SNP C C T rs142919399 by1000genomes TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr4:76522237C>T ENST00000429927.2 - 9 1907 c.1204G>A c.(1204-1206)Gtg>Atg p.V402M CDKL2_ENST00000307465.4_Missense_Mutation_p.V402M NM_003948.3 NP_003939.1 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 402 sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) GTGTGGTCCACGCTGACATTG 0.478000 9 103 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95514963 95514963 + RNA SNP G G A rs114749649 by1000genomes TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr2:95514963G>A ENST00000432432.2 - 0 694 NR_040113.1 GCCTATCAACGGCATGTGTAC 0.328000 4 211 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109365426 109365426 + Missense_Mutation SNP A A G rs2693112 TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr2:109365426A>G ENST00000283195.6 + 9 1240 c.1114A>G c.(1114-1116)Att>Gtt p.I372V NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 372 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 TTTAAAAGAGATTGTTGAAAC 0.343000 6 293 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109365424 109365424 + Missense_Mutation SNP A A T TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr2:109365424A>T ENST00000283195.6 + 9 1238 c.1112A>T c.(1111-1113)gAg>gTg p.E371V NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 371 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 TTTTTAAAAGAGATTGTTGAA 0.338000 6 290 0 0 1 0 0 CATSPERD 257062 broad.mit.edu 37 19 5770982 5770982 + Silent SNP G G A TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr19:5770982G>A ENST00000381624.3 + 19 1723 c.1662G>A c.(1660-1662)ggG>ggA p.G554G CATSPERD_ENST00000309164.7_3'UTR|CATSPERD_ENST00000381614.2_Silent_p.G212G NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 554 integral to membrane GCTTCCAGGGGCAGCAGTCCT 0.587000 6 84 0 0 1 0 0 FGF21 26291 broad.mit.edu 37 19 49261406 49261406 + Missense_Mutation SNP G G A TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr19:49261406G>A ENST00000593756.1 + 4 1131 c.559G>A c.(559-561)Gat>Aat p.D187N FGF21_ENST00000222157.3_Missense_Mutation_p.D187N Q9NSA1 FGF21_HUMAN fibroblast growth factor 21 187 cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import extracellular region|soluble fraction growth factor activity breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 8 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) CCAGCCCCCCGATGTGGGCTC 0.682000 3 23 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61492578 61492580 + In_Frame_Del DEL TGC TGC - TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr2:61492578_61492580delTGC ENST00000398571.2 - 43 5806_5808 c.5730_5732delGCA c.(5728-5733)caa>ca p.QQ1910del NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 1910 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) CATATAAAGTTGCTGAATAGTAG 0.360 21 84 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100369721 100369721 + RNA DEL T T - TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr7:100369721delT ENST00000542585.1 + 0 5573 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ctctaaattcttttttttttt 0.532 2 4 --- --- --- --- IQSEC3 440073 broad.mit.edu 37 12 248285 248285 + Frame_Shift_Del DEL G G - TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr12:248285delG ENST00000538872.1 + 4 1874 c.1756delG c.(1756-1758)ggfs p.G586fs IQSEC3_ENST00000326261.4_Frame_Shift_Del_p.G586fs|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000382841.2_Frame_Shift_Del_p.G283fs Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 586 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) ggTGGGGAGAGGGGCCGAGGC 0.692 2 4 --- --- --- --- GOLGA8A 23015 broad.mit.edu 37 15 34679126 34679127 + Splice_Site INS - - T TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr15:34679126_34679127insT ENST00000432566.2 - 2 75 c.e2-1 GOLGA8A_ENST00000360553.3_Intron|GOLGA8A_ENST00000359187.4_Intron|GOLGA8A_ENST00000543376.1_5'UTR A7E2F4 GOG8A_HUMAN golgin A8 family, member A Golgi cisterna membrane all_lung(180;2.78e-08) all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156) ATGTAGGGCCCTCCCCGTGGAT 0.594 3 6 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 4 7 --- --- --- --- MYH4 4622 broad.mit.edu 37 17 10352207 10352218 + In_Frame_Del DEL CGAGAGCTATGC CGAGAGCTATGC - TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr17:10352207_10352218delCGAGAGCTATGC ENST00000255381.2 - 31 4438_4449 c.4328_4339delGCATAGCTCTCG c.(4327-4341)tat>t p.CIALD1443del CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1443 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.D1447N(1) NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TGCTTCTTATCGAGAGCTATGCAGGCAGCATT 0.429 10 65 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 10 51 --- --- --- --- LONP1 9361 broad.mit.edu 37 19 5692212 5692213 + Frame_Shift_Ins INS - - AA rs112807920 byFrequency TCGA-G9-7509-01A-11D-A41K-08 TCGA-G9-7509-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdfc835-b6f2-4369-9f20-0c2b094020d0 38029fed-8935-4482-a4e6-d0be1258b2e0 g.chr19:5692212_5692213insAA ENST00000360614.3 - 18 2867_2868 c.2710_2711insTT c.(2710-2712)cgcfs p.R904fs LONP1_ENST00000590729.1_Frame_Shift_Ins_p.R774fs|LONP1_ENST00000540670.2_Frame_Shift_Ins_p.R708fs|LONP1_ENST00000585374.1_Frame_Shift_Ins_p.R790fs|LONP1_ENST00000593119.1_Frame_Shift_Ins_p.R840fs NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 904 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CACCCCTGCGCGCTTGGCCTGG 0.649 8 120 --- --- --- ---