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 VIL1 7429 broad.mit.edu 37 2 219295519 219295519 + Silent SNP C C T TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr2:219295519C>T ENST00000248444.5 + 10 1108 c.1020C>T c.(1018-1020)gcC>gcT p.A340A VIL1_ENST00000440053.1_Silent_p.A340A|VIL1_ENST00000392114.2_Silent_p.A29A NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 340 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTGAGTCGGCCGTCTTTCAGC 0.597000 13 34 0 0 1 0 0 KCNJ8 3764 broad.mit.edu 37 12 21926252 21926252 + Missense_Mutation SNP T T C TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr12:21926252T>C ENST00000240662.2 - 2 644 c.299A>G c.(298-300)gAc>gGc p.D100G NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 100 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) AGCATAGATGTCCCCATGGGC 0.507000 OREG0021704 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 34 0 0 1 0 0 SIPA1 6494 broad.mit.edu 37 11 65408733 65408733 + Missense_Mutation SNP G G A TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr11:65408733G>A ENST00000394224.3 + 2 637 c.341G>A c.(340-342)cGa>cAa p.R114Q SIPA1_ENST00000534313.1_Missense_Mutation_p.R114Q|SIPA1_ENST00000394227.3_Missense_Mutation_p.R114Q|SIPA1_ENST00000527525.1_Missense_Mutation_p.R114Q NM_153253.29 NP_694985.29 Q96FS4 SIPA1_HUMAN signal-induced proliferation-associated 1 114 cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 10 CTTGAGCCTCGATGGTTTGCC 0.632000 52 75 0 0 1 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77912924 77912924 + Missense_Mutation SNP G G T TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chrX:77912924G>T ENST00000321110.1 - 2 1289 c.994C>A c.(994-996)Ctc>Atc p.L332I NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 332 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 CCTTGGCAGAGTTGATGGATG 0.463000 9 18 2.74318e-10 2.95419e-10 1 1 0 LRRK1 79705 broad.mit.edu 37 15 101588788 101588788 + Silent SNP A A G TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr15:101588788A>G ENST00000284395.5 + 23 3616 c.3216A>G c.(3214-3216)acA>acG p.T1072T RP11-505E24.3_ENST00000558979.1_RNA|LRRK1_ENST00000388948.3_Silent_p.T1075T Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1075 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GCTGTAGCACATTCAGAGTGA 0.448000 45 28 0 0 1 0 0 ZFP37 7539 broad.mit.edu 37 9 115811700 115811700 + Silent SNP T T C TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr9:115811700T>C ENST00000374227.3 - 3 318 c.291A>G c.(289-291)agA>agG p.R97R ZFP37_ENST00000555206.1_Silent_p.R98R|ZFP37_ENST00000553380.1_Silent_p.R112R Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 97 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CTTGACTGGGTCTTTTCCCCT 0.403000 22 6 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33960425 33960425 + Silent SNP T T G TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr1:33960425T>G ENST00000361328.3 + 8 2634 c.2481T>G c.(2479-2481)ccT>ccG p.P827P NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 827 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GTAGTGAGCCTGGGGGAAACT 0.448000 77 112 0 0 1 0 0 FIGNL1 63979 broad.mit.edu 37 7 50513534 50513534 + Silent SNP T T C TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr7:50513534T>C ENST00000419119.1 - 2 3005 c.1452A>G c.(1450-1452)gcA>gcG p.A484A FIGNL1_ENST00000356889.4_Silent_p.A484A|FIGNL1_ENST00000433017.1_Silent_p.A484A|FIGNL1_ENST00000395556.2_Silent_p.A484A Q6PIW4 FIGL1_HUMAN fidgetin-like 1 484 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) CAGCAAACAATGCACGGACCA 0.443000 43 59 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196953247 196953247 + Missense_Mutation SNP C C T TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr1:196953247C>T ENST00000367414.5 + 3 538 c.482C>T c.(481-483)cCt>cTt p.P161L CFHR5_ENST00000256785.4_Missense_Mutation_p.P137L NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 137 Sushi 3. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 TGGTCCACTCCTCCCATATGC 0.348000 15 31 0 0 1 0 0 DDX31 64794 broad.mit.edu 37 9 135522404 135522404 + Missense_Mutation SNP T T C TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr9:135522404T>C ENST00000372159.3 - 12 1475 c.1324A>G c.(1324-1326)Agt>Ggt p.S442G DDX31_ENST00000372153.1_Missense_Mutation_p.S442G|DDX31_ENST00000438527.3_Missense_Mutation_p.S313G|DDX31_ENST00000310532.2_Missense_Mutation_p.S442G NM_022779.7 NP_073616.6 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 442 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) ACAGAAATACTGACTGGATCA 0.493000 31 44 0 0 1 0 0 OR2AG2 338755 broad.mit.edu 37 11 6789589 6789589 + Silent SNP G G A TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr11:6789589G>A ENST00000338569.2 - 1 697 c.600C>T c.(598-600)taC>taT p.Y200Y NM_001004490.1 NP_001004490.1 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, member 2 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 28 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CACCTGTCACGTATATTATAA 0.493000 10 15 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12501446 12501446 + Missense_Mutation SNP T T C TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr19:12501446T>C ENST00000419318.1 - 4 2419 c.1670A>G c.(1669-1671)gAa>gGa p.E557G CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G Q96GE5 ZN799_HUMAN zinc finger protein 799 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TTCCTTACATTCATACGGGTT 0.413000 3 27 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628299 29628299 + Missense_Mutation SNP A A G TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr20:29628299A>G ENST00000278882.3 + 6 681 c.301A>G c.(301-303)Agt>Ggt p.S101G FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAGCAAAAAGTAAAACAGC 0.363000 3 63 0 0 1 0 0 LRRC8D 55144 broad.mit.edu 37 1 90400076 90400076 + Silent SNP C C T TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr1:90400076C>T ENST00000337338.5 + 3 1856 c.1449C>T c.(1447-1449)ccC>ccT p.P483P LRRC8D_ENST00000394593.3_Silent_p.P483P NM_001134479.1 NP_001127951.1 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member D 483 integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1) 29 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) CGGGGGTGCCCGATGCTGTCT 0.468000 13 28 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11132434 11132434 + Missense_Mutation SNP C C A TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr19:11132434C>A ENST00000358026.2 + 19 2934 c.2650C>A c.(2650-2652)Cac>Aac p.H884N SMARCA4_ENST00000589677.1_Missense_Mutation_p.H884N|SMARCA4_ENST00000541122.2_Missense_Mutation_p.H884N|SMARCA4_ENST00000450717.3_Missense_Mutation_p.H884N|SMARCA4_ENST00000429416.3_Missense_Mutation_p.H884N|SMARCA4_ENST00000413806.3_Missense_Mutation_p.H884N|SMARCA4_ENST00000444061.3_Missense_Mutation_p.H884N|SMARCA4_ENST00000344626.4_Missense_Mutation_p.H884N|SMARCA4_ENST00000590574.1_Missense_Mutation_p.H884N NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 884 Helicase ATP-binding. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GGACGAAGGTCACCGCATGAA 0.622000 """F, N, Mis""" NSCLC 13 16 6.72482e-11 7.38412e-11 1 1 0 NACA 4666 broad.mit.edu 37 12 57111705 57111705 + Silent SNP G G A rs2926746 TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr12:57111705G>A ENST00000454682.1 - 3 3890 c.3609C>T c.(3607-3609)ccC>ccT p.P1203P NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTTTTGGGGAGGGAGGAGTTG 0.642000 T BCL6 NHL 6 74 0 0 1 0 0 ZNF138 7697 broad.mit.edu 37 7 64292367 64292367 + Missense_Mutation SNP A A C TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr7:64292367A>C ENST00000359735.3 + 4 923 c.576A>C c.(574-576)aaA>aaC p.K192N ZNF138_ENST00000437743.1_Missense_Mutation_p.K217N|ZNF138_ENST00000440155.2_Missense_Mutation_p.K223N|ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000307355.7_Missense_Mutation_p.K249N|ZNF138_ENST00000397136.2_Missense_Mutation_p.K192N|ZNF138_ENST00000440598.1_3'UTR NM_001271637.1|NM_001271639.1 NP_001258566.1|NP_001258568.1 B4DP87 B4DP87_HUMAN zinc finger protein 138 223 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.K192K(1) kidney(1)|large_intestine(3)|lung(2)|stomach(1) 7 Lung NSC(55;0.0795)|all_lung(88;0.18) CTGGAGAAAAACCCTATAAAT 0.368000 16 13 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430773 37430773 + Silent SNP G G A TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr10:37430773G>A ENST00000374660.1 + 7 879 c.780G>A c.(778-780)acG>acA p.T260T ANKRD30A_ENST00000361713.1_Silent_p.T260T|ANKRD30A_ENST00000602533.1_Silent_p.T260T Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 316 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CACCTGACACGGCTGAAAGCT 0.493000 3 43 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 27 39 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 8 0 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161578 90161578 + RNA SNP G G A rs13337896 by1000genomes TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr16:90161578G>A ENST00000564451.1 + 0 931 TUBB8P7_ENST00000567960.1_RNA p.R105H(3) GCCAAGGGACGCTACACCGAA 0.587000 4 54 0 0 1 0 0 CCDC150 284992 broad.mit.edu 37 2 197585312 197585312 + Missense_Mutation SNP C C A TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr2:197585312C>A ENST00000389175.4 + 20 2314 c.2179C>A c.(2179-2181)Cag>Aag p.Q727K CCDC150_ENST00000487663.1_3'UTR|CCDC150_ENST00000409270.1_Missense_Mutation_p.Q214K|CCDC150_ENST00000272831.7_Missense_Mutation_p.Q374K NM_001080539.1 NP_001074008.1 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 727 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33 TCTCAATCAACAGAGGGTGCA 0.448000 8 31 5.18039e-06 5.37226e-06 1 1 0 SLC25A1 6576 broad.mit.edu 37 22 19164192 19164192 + Missense_Mutation SNP T T G TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr22:19164192T>G ENST00000215882.5 - 7 802 c.646A>C c.(646-648)Aag>Cag p.K216Q SLC25A1_ENST00000461267.1_5'UTR|SLC25A1_ENST00000451283.1_Missense_Mutation_p.K113Q NM_005984.3 NP_005975.1 P53007 TXTP_HUMAN solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 216 gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process integral to membrane|mitochondrial inner membrane citrate transmembrane transporter activity|protein binding cervix(1)|lung(1) 2 Colorectal(54;0.0993) all_lung(157;9.94e-09) Lung(27;0.124) TTCATGGGCTTGTTGGGGTTG 0.592000 11 21 0 0 1 0 0 FGR 2268 broad.mit.edu 37 1 27943402 27943402 + Silent SNP G G A TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr1:27943402G>A ENST00000374005.3 - 7 936 c.648C>T c.(646-648)ttC>ttT p.F216F FGR_ENST00000545953.1_Silent_p.F150F|FGR_ENST00000399173.1_Silent_p.F216F|FGR_ENST00000374004.1_Silent_p.F216F NM_005248.2 NP_005239.1 P09769 FGR_HUMAN feline Gardner-Rasheed sarcoma viral oncogene homolog 216 SH2. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GCACCGAGTTGAACTGAACCC 0.562000 47 101 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61958113 61958113 + Silent SNP T T C TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr10:61958113T>C ENST00000280772.1 - 14 1865 c.1674A>G c.(1672-1674)ttA>ttG p.L558L ANK3_ENST00000373827.2_Silent_p.L552L|ANK3_ENST00000503366.1_Silent_p.L541L NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 558 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTGTTATAGATAAAGACGCTC 0.498000 11 15 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27804533 27804533 + Silent SNP T T C rs112180798 TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr2:27804533T>C ENST00000408964.2 + 1 5145 c.5094T>C c.(5092-5094)tcT>tcC p.S1698S NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1698 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) GCAGTCCCTCTCAGAGGAGCC 0.587000 5 132 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65174991 65174991 + Missense_Mutation SNP C C T TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr17:65174991C>T ENST00000358691.5 - 13 1380 c.1214G>A c.(1213-1215)cGt>cAt p.R405H HELZ_ENST00000580168.1_Missense_Mutation_p.R405H NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) AGAATCCCAACGTTTAGCTGT 0.348000 14 24 0 0 1 0 0 DUSP22 56940 broad.mit.edu 37 6 348774 348774 + Silent SNP G G T TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr6:348774G>T ENST00000604971.1 + 4 1245 c.132G>T c.(130-132)cgG>cgT p.R44R DUSP22_ENST00000605315.1_Silent_p.R44R|DUSP22_ENST00000419235.2_Silent_p.R147R|DUSP22_ENST00000603453.1_Silent_p.R44R|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000344450.5_Silent_p.R147R Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 147 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) TCCAGTATCGGCAGTGGCTGA 0.522000 18 75 2.98393e-07 3.15283e-07 1 1 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 4 109 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940576 144940576 + Silent SNP C C T TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr8:144940576C>T ENST00000525985.1 - 2 6917 c.6846G>A c.(6844-6846)tcG>tcA p.S2282S P58107 EPIPL_HUMAN epiplakin 1 2282 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCTCCTCCACCGACAGCCTCA 0.736000 3 64 0 0 1 0 0 GSPT2 23708 broad.mit.edu 37 X 51488448 51488448 + Missense_Mutation SNP G G A TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chrX:51488448G>A ENST00000340438.4 + 1 1968 c.1726G>A c.(1726-1728)Gtg>Atg p.V576M NM_018094.4 NP_060564.2 Q8IYD1 ERF3B_HUMAN G1 to S phase transition 2 576 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Ovarian(276;0.236) ACCCCGCTTCGTGAAACAAGA 0.418000 20 15 0 0 1 0 0 NUDCD1 84955 broad.mit.edu 37 8 110287672 110287672 + Missense_Mutation SNP A A C TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr8:110287672A>C ENST00000239690.4 - 7 1456 c.1082T>G c.(1081-1083)gTa>gGa p.V361G NUDCD1_ENST00000427660.2_Missense_Mutation_p.V332G NM_032869.3 NP_116258.2 Q96RS6 NUDC1_HUMAN NudC domain containing 1 361 CS. breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1) 25 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;1.56e-12) ATCTCCAATTACTAGCTCTGG 0.383000 10 21 0 0 1 0 0 PCDHA11 0 broad.mit.edu 37 5 140249016 140249016 + Missense_Mutation SNP G G A TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr5:140249016G>A ENST00000398640.2 + 1 328 c.328G>A c.(328-330)Gtg>Atg p.V110M PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGGTGATCGTGGACAGGCC 0.552000 122 134 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 4 109 0 0 1 0 0 EPS15L1 58513 broad.mit.edu 37 19 16487940 16487940 + Silent SNP C C T TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr19:16487940C>T ENST00000455140.2 - 22 2439 c.2373G>A c.(2371-2373)ccG>ccA p.P791P EPS15L1_ENST00000535753.2_Intron|EPS15L1_ENST00000248070.6_Silent_p.P791P|EPS15L1_ENST00000594975.1_Intron NM_001258374.1 NP_001245303.1 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 791 15 X 3 AA repeats of D-P-F.|Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 GACCGCTGGGCGGTTTAGGCC 0.612000 OREG0025332 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 19 0 0 1 0 0 JPH1 56704 broad.mit.edu 37 8 75171665 75171665 + Missense_Mutation SNP C C T TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr8:75171665C>T ENST00000342232.4 - 3 1253 c.1213G>A c.(1213-1215)Gcg>Acg p.A405T NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 405 Ala-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) ACAGCTCTCGCGATGTCGCAC 0.607000 18 22 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197091601 197091601 + Missense_Mutation SNP G G A TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr1:197091601G>A ENST00000367409.4 - 14 3771 c.3515C>T c.(3514-3516)aCg>aTg p.T1172M ASPM_ENST00000294732.7_Missense_Mutation_p.T1172M|ASPM_ENST00000367408.1_Missense_Mutation_p.T422M NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1172 CH 2. mitosis cytoplasm|nucleus calmodulin binding p.T1172M(1) 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 ACCAGTTTGCGTACATTCCAC 0.413000 9 19 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138452008 138452008 + Missense_Mutation SNP T T C TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr4:138452008T>C ENST00000344876.4 - 1 1621 c.1235A>G c.(1234-1236)gAa>gGa p.E412G PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.E192G|PCDH18_ENST00000412923.2_Missense_Mutation_p.E412G|PCDH18_ENST00000510305.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 412 Cadherin 4. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) ATAATTGTTTTCATATGTCTT 0.403000 3 23 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34079638 34079638 + Missense_Mutation SNP C C T TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr17:34079638C>T ENST00000254466.6 - 1 259 c.232G>A c.(232-234)Gcc>Acc p.A78T GAS2L2_ENST00000587565.1_Missense_Mutation_p.A78T NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 78 CH. cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GCCAGGAAGGCCAGGGCAGCG 0.652000 21 30 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123525932 123525932 + Silent SNP C C T TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chrX:123525932C>T ENST00000422452.2 - 28 5721 c.5658G>A c.(5656-5658)ggG>ggA p.G1886G STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.G1879G NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TCCAAATTTTCCCATCAGCCC 0.378000 9 7 0 0 1 0 0 SEMA3C 10512 broad.mit.edu 37 7 80374454 80374454 + Missense_Mutation SNP G G A TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr7:80374454G>A ENST00000265361.3 - 18 2573 c.2012C>T c.(2011-2013)aCg>aTg p.T671M SEMA3C_ENST00000419255.2_Missense_Mutation_p.T671M|SEMA3C_ENST00000544525.1_Missense_Mutation_p.T689M NM_006379.3 NP_006370.1 Q99985 SEM3C_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 671 immune response|response to drug membrane receptor activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 CCATTTGTCCGTCACAACAGC 0.478000 19 31 0 0 1 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19489486 19489486 + Missense_Mutation SNP A A C TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr12:19489486A>C ENST00000538714.1 + 18 2355 c.2351A>C c.(2350-2352)gAa>gCa p.E784A PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E484A|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E726A|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E645A|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E726A|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E657A|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E784A|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.E726A|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E829A NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 726 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) GATAAGTTAGAATACGATGTA 0.348000 20 28 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156642804 156642804 + Frame_Shift_Del DEL G G - TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr1:156642804delG ENST00000368223.3 - 4 1308 c.1176delC c.(1174-1176)ccfs p.P392fs NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 392 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCTGAGGTGTGGGGGGGATGG 0.597 7 293 --- --- --- --- AC019118.2 0 broad.mit.edu 37 2 2910722 2910723 + RNA INS - - T TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr2:2910722_2910723insT ENST00000457478.1 - 0 594 tccaccccctctccccagccca 0.708 3 6 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 8 89 --- --- --- --- MDFI 4188 broad.mit.edu 37 6 41621169 41621171 + In_Frame_Del DEL CTG CTG - TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr6:41621169_41621171delCTG ENST00000373050.4 + 4 601_603 c.414_416delCTG c.(412-417)ctc>ct p.LC138del Q99750 MDFI_HUMAN MyoD family inhibitor 199 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) ACTCGTGCCTCTGCTGCTGCTGC 0.655 13 188 --- --- --- --- SEC63 11231 broad.mit.edu 37 6 108214774 108214774 + Frame_Shift_Del DEL T T - TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chr6:108214774delT ENST00000369002.4 - 16 1765 c.1586delA c.(1585-1587)agfs p.K530fs NM_007214.4 NP_009145.1 Q9UGP8 SEC63_HUMAN SEC63 homolog (S. cerevisiae) 530 SEC63 1. protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding p.K529fs*4(1) endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) TAAAGGTTTCTTTTTTTTTGA 0.368 2 4 --- --- --- --- SHROOM4 57477 broad.mit.edu 37 X 50350672 50350674 + In_Frame_Del DEL TCT TCT - rs3747282 byFrequency TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chrX:50350672_50350674delTCT ENST00000376020.2 - 6 3493_3495 c.3468_3470delAGA c.(3466-3471)gag>ga p.EE1156del SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1156del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1040del NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1156 Glu-rich. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding p.E1156E(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) TGGCAGctcctcttcctcctcct 0.557 3 6 --- --- --- --- RBM41 55285 broad.mit.edu 37 X 106331986 106331986 + Frame_Shift_Del DEL C C - TCGA-HT-7606-01A-11D-2086-08 TCGA-HT-7606-10A-01D-2086-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9734311d-3183-459b-8200-7104fba3bf64 7c7214f7-036a-4ac9-9883-1a93d9eb6f10 g.chrX:106331986delC ENST00000372487.1 - 5 633 c.607delG c.(607-609)aafs p.E204fs RBM41_ENST00000372479.3_Frame_Shift_Del_p.E204fs|RBM41_ENST00000203616.8_Frame_Shift_Del_p.E228fs NM_001171080.1 NP_001164551.1 Q96IZ5 RBM41_HUMAN RNA binding motif protein 41 204 nucleotide binding|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 13 TGAAACTCTTCAAGACGTTTT 0.428 15 27 --- --- --- ---