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 SERPINB9 5272 broad.mit.edu 37 6 2896393 2896393 + Missense_Mutation SNP T T C rs146337993 TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr6:2896393T>C ENST00000380698.4 - 3 289 c.200A>G c.(199-201)cAt>cGt p.H67R NM_004155.5 NP_004146.1 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 9 67 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 15 Ovarian(93;0.0412) all_hematologic(90;0.108) GAAAGCCCGATGAATGTCTTC 0.463000 18 75 0 0 1 0 0 CALML4 91860 broad.mit.edu 37 15 68492003 68492003 + Missense_Mutation SNP G G T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr15:68492003G>T ENST00000467889.1 - 3 364 c.180C>A c.(178-180)ttC>ttA p.F60L CALML4_ENST00000395465.3_Intron|RP11-315D16.2_ENST00000562767.1_Intron|CALML4_ENST00000540479.1_5'UTR|CALML4_ENST00000448060.2_Intron NM_033429.2 NP_219501.2 Q96GE6 CALL4_HUMAN calmodulin-like 4 60 EF-hand 1. F -> S (in Ref. 1; AAG48255). calcium ion binding large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 4 CATACAGGGAGAAGCATTCCT 0.627000 4 95 2.7689e-08 3.07046e-08 1 1 0 DNAH5 1767 broad.mit.edu 37 5 13753654 13753654 + Missense_Mutation SNP A A C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr5:13753654A>C ENST00000265104.4 - 63 10664 c.10560T>G c.(10558-10560)gaT>gaG p.D3520E NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3520 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCAACAGTACATCCCCTAAAA 0.343000 Kartagener syndrome 3 33 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55890296 55890296 + Missense_Mutation SNP G G C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr11:55890296G>C ENST00000313472.3 + 1 448 c.448G>C c.(448-450)Gtg>Ctg p.V150L NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) TGGGCCTTATGTGATTGGCTT 0.453000 15 73 0 0 1 0 0 BCAS3 54828 broad.mit.edu 37 17 58952079 58952079 + Missense_Mutation SNP C C T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr17:58952079C>T ENST00000589222.1 + 9 709 c.641C>T c.(640-642)aCg>aTg p.T214M BCAS3_ENST00000588462.1_Missense_Mutation_p.T214M|BCAS3_ENST00000408905.3_Missense_Mutation_p.T214M|BCAS3_ENST00000390652.5_Missense_Mutation_p.T214M|BCAS3_ENST00000407086.3_Missense_Mutation_p.T214M Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 214 nucleus p.T214M(1) NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) TGTACTTTCACGAAGAAATTC 0.328000 4 36 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8999557 8999557 + Missense_Mutation SNP T T G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr19:8999557T>G ENST00000397910.4 - 56 40821 c.40618A>C c.(40618-40620)Aag>Cag p.K13540Q MUC16_ENST00000380951.5_Missense_Mutation_p.K181Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13542 SEA 10. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCCCCATCCTTCTTGGGCCTG 0.597000 7 41 0 0 1 0 0 CRTC2 200186 broad.mit.edu 37 1 153921814 153921814 + Missense_Mutation SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:153921814G>A ENST00000368633.1 - 12 1578 c.1451C>T c.(1450-1452)cCc>cTc p.P484L CRTC2_ENST00000368630.3_Missense_Mutation_p.P164L NM_181715.2 NP_859066.1 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 484 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 27 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TGGGTATGGGGGTAACCGCTG 0.542000 3 124 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70333340 70333340 + Missense_Mutation SNP C C T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr11:70333340C>T ENST00000338508.4 - 32 3060 c.3061G>A c.(3061-3063)Gag>Aag p.E1021K SHANK2_ENST00000409161.1_Missense_Mutation_p.E424K|SHANK2_ENST00000449833.2_Missense_Mutation_p.E425K|SHANK2_ENST00000423696.2_Missense_Mutation_p.E641K Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 641 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GGGCTGTCCTCCACGTTGGAC 0.627000 12 195 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276981 186276981 + Silent SNP A A G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:186276981A>G ENST00000445192.2 + 7 2175 c.2130A>G c.(2128-2130)aaA>aaG p.K710K PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367486.3_Silent_p.K667K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 710 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTACCCCTAAAGGGACTGCTC 0.582000 6 118 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26743810 26743810 + Missense_Mutation SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr22:26743810G>A ENST00000529632.2 + 11 2534 c.2338G>A c.(2338-2340)Gtg>Atg p.V780M SEZ6L_ENST00000404234.3_Missense_Mutation_p.V780M|SEZ6L_ENST00000403121.1_Missense_Mutation_p.V553M|SEZ6L_ENST00000411842.2_5'UTR|SEZ6L_ENST00000402979.1_Missense_Mutation_p.V553M|SEZ6L_ENST00000248933.6_Missense_Mutation_p.V780M|SEZ6L_ENST00000343706.4_Missense_Mutation_p.V780M|SEZ6L_ENST00000360929.3_Missense_Mutation_p.V780M NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 780 Sushi 3. endoplasmic reticulum membrane|integral to membrane p.V780M(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CTATGACATCGTGGGGAGTGA 0.552000 43 74 0 0 1 0 0 ATP6V1B1 525 broad.mit.edu 37 2 71190385 71190385 + Missense_Mutation SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr2:71190385G>A ENST00000234396.4 + 10 1076 c.1003G>A c.(1003-1005)Gtg>Atg p.V335M ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.V335M|AC007040.11_ENST00000606025.1_Intron NM_001692.3 NP_001683.2 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 335 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1) 19 GGCGGGCCGCGTGGAGGGTCG 0.627000 6 87 0 0 1 0 0 HDAC10 83933 broad.mit.edu 37 22 50688081 50688081 + Silent SNP G G C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr22:50688081G>C ENST00000216271.5 - 6 898 c.546C>G c.(544-546)ctC>ctG p.L182L HDAC10_ENST00000448072.1_Silent_p.L182L|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000349505.4_Silent_p.L182L NM_001159286.1|NM_032019.5 NP_001152758.1|NP_114408.3 Q969S8 HDA10_HUMAN histone deacetylase 10 182 Histone deacetylase. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nucleus histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific) endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 8 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CATCCTCAAAGAGATACTGGA 0.622000 5 59 0 0 1 0 0 ARMCX6 54470 broad.mit.edu 37 X 100871491 100871491 + Missense_Mutation SNP C C A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chrX:100871491C>A ENST00000539247.1 - 4 552 c.120G>T c.(118-120)gaG>gaT p.E40D ARMCX6_ENST00000361910.4_Missense_Mutation_p.E40D|ARMCX6_ENST00000497931.1_Intron|ARMCX6_ENST00000538627.1_Missense_Mutation_p.E40D NM_001184768.1 NP_001171697.1 Q7L4S7 ARMX6_HUMAN armadillo repeat containing, X-linked 6 40 integral to membrane endometrium(3)|kidney(1)|liver(2)|lung(3) 9 cctcttccccctcctcctcca 0.547000 3 34 1 1 1 1 0 C8orf86 389649 broad.mit.edu 37 8 38373959 38373959 + Silent SNP C C T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr8:38373959C>T ENST00000358138.1 - 2 411 c.387G>A c.(385-387)gtG>gtA p.V129V C8orf86_ENST00000437935.2_Intron NM_207412.1 NP_997295.1 Q6ZUL3 CH086_HUMAN chromosome 8 open reading frame 86 129 breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 5 AATGAGAGATCACTGTGGGCT 0.418000 35 113 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16260826 16260826 + Silent SNP G G C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:16260826G>C ENST00000375759.3 + 11 8295 c.8091G>C c.(8089-8091)gtG>gtC p.V2697V NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 2697 RID. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AAGGGCCTGTGAATGTTCTTA 0.597000 7 63 0 0 1 0 0 OR13C8 138802 broad.mit.edu 37 9 107331818 107331818 + Missense_Mutation SNP G G T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr9:107331818G>T ENST00000335040.1 + 1 370 c.370G>T c.(370-372)Gtg>Ttg p.V124L NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 GGACCGCTATGTGGCCATCTG 0.537000 13 47 4.14922e-12 4.64712e-12 1 1 0 E2F8 79733 broad.mit.edu 37 11 19258890 19258890 + Missense_Mutation SNP A A C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr11:19258890A>C ENST00000527884.1 - 4 654 c.422T>G c.(421-423)aTc>aGc p.I141S RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.I141S NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 141 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GTCAAGGCAGATGTCATTATT 0.373000 7 36 0 0 1 0 0 IKBIP 121457 broad.mit.edu 37 12 99020057 99020057 + Missense_Mutation SNP T T A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr12:99020057T>A ENST00000299157.4 - 3 1158 c.785A>T c.(784-786)tAc>tTc p.Y262F IKBIP_ENST00000342502.2_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000420861.1_Intron NM_153687.3 NP_710154.1 Q70UQ0 IKIP_HUMAN IKBKB interacting protein 266 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 TTTGGGTTCGTAGTCGGAAAG 0.413000 18 75 0 0 1 0 0 MKL2 57496 broad.mit.edu 37 16 14312706 14312706 + Missense_Mutation SNP C C G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr16:14312706C>G ENST00000571589.1 + 8 716 c.544C>G c.(544-546)Cag>Gag p.Q182E MKL2_ENST00000574045.1_Missense_Mutation_p.Q182E|MKL2_ENST00000341243.5_Missense_Mutation_p.Q171E|MKL2_ENST00000572567.1_Missense_Mutation_p.Q171E|MKL2_ENST00000573051.1_Missense_Mutation_p.Q131E|MKL2_ENST00000318282.5_Missense_Mutation_p.Q182E NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 171 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TCCCCACACTCAGGGCGATTT 0.502000 7 50 0 0 1 0 0 HIST1H1T 3010 broad.mit.edu 37 6 26107884 26107884 + Silent SNP A A G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr6:26107884A>G ENST00000338379.4 - 1 480 c.438T>C c.(436-438)acT>acC p.T146T NM_005323.3 NP_005314.2 P22492 H1T_HUMAN histone cluster 1, H1t 146 cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis nucleosome DNA binding breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1) 9 TGGTTTTAGCAGTCTTTGGTG 0.463000 6 52 0 0 1 0 0 GJC1 10052 broad.mit.edu 37 17 42882050 42882050 + Missense_Mutation SNP T T G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr17:42882050T>G ENST00000426548.1 - 3 1405 c.1136A>C c.(1135-1137)aAc>aCc p.N379T GJC1_ENST00000592524.1_Missense_Mutation_p.N379T|GJC1_ENST00000330514.4_Missense_Mutation_p.N379T|GJC1_ENST00000590758.1_Missense_Mutation_p.N379T NM_001080383.1|NM_005497.3 NP_001073852.1|NP_005488.2 P36383 CXG1_HUMAN gap junction protein, gamma 1, 45kDa 379 cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport connexon complex|integral to membrane NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1) 19 Prostate(33;0.0959) AGTGCTTTTGTTGGACCCAGC 0.517000 15 199 0 0 1 0 0 HRCT1 646962 broad.mit.edu 37 9 35906559 35906559 + Missense_Mutation SNP A A C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr9:35906559A>C ENST00000354323.2 + 1 371 c.275A>C c.(274-276)cAc>cCc p.H92P NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 92 His-rich. integral to membrane p.H92P(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 caccaccaccacccccgccac 0.682000 5 13 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72204709 72204709 + Missense_Mutation SNP C C T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr13:72204709C>T ENST00000305425.4 - 3 1533 c.1111G>A c.(1111-1113)Ggg>Agg p.G371R DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Missense_Mutation_p.G371R|DACH1_ENST00000359684.2_Missense_Mutation_p.G371R NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 369 Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) TTCATGTCCCCGTTTTCAGAG 0.378000 4 167 0 0 1 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795457 142795457 + Missense_Mutation SNP C C A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chrX:142795457C>A ENST00000370498.1 - 2 974 c.221G>T c.(220-222)cGa>cTa p.R74L NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 74 p.R74Q(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) GGAGTTCTCTCGGGACTGGTC 0.428000 4 103 0.184627 0.186291 1 1 0 PCSK5 5125 broad.mit.edu 37 9 78772065 78772065 + Missense_Mutation SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr9:78772065G>A ENST00000545128.1 + 11 1955 c.1417G>A c.(1417-1419)Gac>Aac p.D473N PCSK5_ENST00000376752.4_Missense_Mutation_p.D473N|PCSK5_ENST00000376767.3_Missense_Mutation_p.D473N NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 473 Homo B/P. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GGAGAGCACAGACCGACAAAT 0.522000 11 84 0 0 1 0 0 OR2T4 127074 broad.mit.edu 37 1 248525736 248525736 + Missense_Mutation SNP G G T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:248525736G>T ENST00000366475.1 + 1 854 c.854G>T c.(853-855)gGg>gTg p.G285V NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTCTTCTATGGGGCTGCCATC 0.552000 14 130 2.94398e-08 3.23261e-08 1 1 0 HCN4 10021 broad.mit.edu 37 15 73616166 73616166 + Silent SNP C C A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr15:73616166C>A ENST00000261917.3 - 8 3261 c.2268G>T c.(2266-2268)gcG>gcT p.A756A NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 756 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity p.A756A(1) NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) GGACGCGGTGCGCGCAGTGGG 0.632000 9 57 3.86212e-05 4.08073e-05 1 1 0 SPATC1L 84221 broad.mit.edu 37 21 47588241 47588241 + Silent SNP C C T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr21:47588241C>T ENST00000291672.5 - 3 1586 c.525G>A c.(523-525)agG>agA p.R175R SPATC1L_ENST00000330205.6_Silent_p.R21R NM_001142854.1 NP_001136326.1 spermatogenesis and centriole associated 1-like AGTAGCTCCTCCTGGTCCTGT 0.662000 5 48 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46931440 46931440 + Missense_Mutation SNP G G C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr22:46931440G>C ENST00000262738.3 - 1 1627 c.1628C>G c.(1627-1629)cCg>cGg p.P543R CELSR1_ENST00000395964.1_Missense_Mutation_p.P543R NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 543 Cadherin 3. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) ATTGATGAGCGGGGGCCGGCC 0.582000 13 82 0 0 1 0 0 ITGB8 3696 broad.mit.edu 37 7 20420307 20420307 + Nonsense_Mutation SNP C C A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr7:20420307C>A ENST00000222573.4 + 5 1338 c.654C>A c.(652-654)tgC>tgA p.C218* ITGB8_ENST00000537992.1_Nonsense_Mutation_p.C83* NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 ATTTAGACTGCATGCCTCCCC 0.373000 3 85 0.014758 0.0153046 1 1 0 MDGA2 161357 broad.mit.edu 37 14 47342656 47342656 + Missense_Mutation SNP T T G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr14:47342656T>G ENST00000426342.1 - 14 2584 c.1838A>C c.(1837-1839)cAc>cCc p.H613P MDGA2_ENST00000357362.3_Missense_Mutation_p.H613P|MDGA2_ENST00000399222.3_Missense_Mutation_p.H44P|MDGA2_ENST00000439988.3_Missense_Mutation_p.H911P|MDGA2_ENST00000399232.2_Missense_Mutation_p.H842P NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 842 Ig-like 6. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 TCCATACATGTGATAAAAGAA 0.363000 8 59 0 0 1 0 0 IQSEC3 440073 broad.mit.edu 37 12 248024 248024 + Missense_Mutation SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr12:248024G>A ENST00000538872.1 + 4 1613 c.1495G>A c.(1495-1497)Gtc>Atc p.V499I IQSEC3_ENST00000382841.2_Missense_Mutation_p.V196I|IQSEC3_ENST00000326261.4_Missense_Mutation_p.V499I|RP11-598F7.4_ENST00000505893.2_RNA Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 499 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) GAACATATCCGTCTCCTCCTC 0.711000 3 31 0 0 1 0 0 NR2F1 7025 broad.mit.edu 37 5 92923892 92923892 + Missense_Mutation SNP A A G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr5:92923892A>G ENST00000327111.3 + 2 2420 c.733A>G c.(733-735)Atc>Gtc p.I245V NM_005654.4 NP_005645.1 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 245 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) GGATCTGCAGATCACCGACCA 0.647000 19 85 0 0 1 0 0 C8orf86 389649 broad.mit.edu 37 8 38374031 38374031 + Splice_Site SNP C C G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr8:38374031C>G ENST00000358138.1 - 2 340 c.e2-1 C8orf86_ENST00000437935.2_Intron NM_207412.1 NP_997295.1 Q6ZUL3 CH086_HUMAN chromosome 8 open reading frame 86 breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 5 TCTCATAAGCCTAGAGACAGG 0.423000 10 68 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124416242 124416242 + Missense_Mutation SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr12:124416242G>A ENST00000409039.3 + 74 12647 c.12622G>A c.(12622-12624)Gaa>Aaa p.E4208K DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 4208 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CAAAGAAATAGAAAACAAGAT 0.517000 7 26 0 0 1 0 0 LTN1 26046 broad.mit.edu 37 21 30316094 30316094 + Missense_Mutation SNP T T C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr21:30316094T>C ENST00000389194.2 - 23 4258 c.4253A>G c.(4252-4254)aAa>aGa p.K1418R LTN1_ENST00000361371.5_Missense_Mutation_p.K1372R NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 1372 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 TAAGTTTGTTTTTTGGTCAGC 0.388000 21 127 0 0 1 0 0 NSMCE1 197370 broad.mit.edu 37 16 27268804 27268804 + Missense_Mutation SNP C C T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr16:27268804C>T ENST00000361439.4 - 2 187 c.88G>A c.(88-90)Gaa>Aaa p.E30K NM_145080.3 NP_659547.2 Q8WV22 NSE1_HUMAN non-SMC element 1 homolog (S. cerevisiae) 30 DNA recombination|DNA repair|intracellular signal transduction nucleus zinc ion binding endometrium(2)|large_intestine(2)|lung(3) 7 ACGTCCCATTCCTCTAGCACG 0.582000 29 63 0 0 1 0 0 REG1A 5967 broad.mit.edu 37 2 79349974 79349974 + Missense_Mutation SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr2:79349974G>A ENST00000233735.1 + 5 432 c.329G>A c.(328-330)cGc>cAc p.R110H NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 110 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding p.R110P(1)|p.R110H(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 TAGAACCGCCGCTGGCACTGG 0.552000 14 139 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103148843 103148843 + Missense_Mutation SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr2:103148843G>A ENST00000295269.4 + 12 2550 c.2093G>A c.(2092-2094)cGg>cAg p.R698Q NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 698 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 GCATGCTCTCGGATAGGGTCA 0.448000 14 79 0 0 1 0 0 GGNBP2 79893 broad.mit.edu 37 17 34942489 34942489 + Missense_Mutation SNP C C G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr17:34942489C>G ENST00000304718.4 + 12 1818 c.1502C>G c.(1501-1503)tCt>tGt p.S501C NM_024835.3 NP_079111.1 Q9H3C7 GGNB2_HUMAN gametogenetin binding protein 2 501 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 38 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) GGTGATGACTCTTGTGTTCAT 0.368000 17 75 0 0 1 0 0 C15orf52 388115 broad.mit.edu 37 15 40627566 40627566 + Silent SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr15:40627566G>A ENST00000397536.2 - 7 803 c.768C>T c.(766-768)caC>caT p.H256H C15orf52_ENST00000559313.1_Silent_p.H466H Q6ZUT6 CO052_HUMAN chromosome 15 open reading frame 52 466 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) GCTCAGCCTGGTGATTGCTCC 0.657000 5 17 0 0 1 0 0 HID1 283987 broad.mit.edu 37 17 72954437 72954437 + Silent SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr17:72954437G>A ENST00000425042.2 - 11 1454 c.1377C>T c.(1375-1377)gcC>gcT p.A459A NM_030630.2 NP_085133.1 HID1 domain containing TGAGCAGGTCGGCGTGGGTCC 0.662000 OREG0024721 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 22 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56370501 56370501 + Missense_Mutation SNP T T C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr19:56370501T>C ENST00000301295.6 + 3 2164 c.1742T>C c.(1741-1743)aTt>aCt p.I581T NLRP4_ENST00000346986.5_Missense_Mutation_p.I581T|NLRP4_ENST00000587891.1_Missense_Mutation_p.I506T NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 581 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TTTCATATTATTGACAACGTG 0.418000 5 37 0 0 1 0 0 TIGD2 166815 broad.mit.edu 37 4 90034354 90034354 + Missense_Mutation SNP G G C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr4:90034354G>C ENST00000317005.2 + 1 387 c.229G>C c.(229-231)Gag>Cag p.E77Q NM_145715.2 NP_663761.1 Q4W5G0 TIGD2_HUMAN tigger transposable element derived 2 77 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 14 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.86e-05) ATCAACATACGAGGAGCTTGA 0.363000 10 60 0 0 1 0 0 KCNG3 170850 broad.mit.edu 37 2 42720041 42720041 + Missense_Mutation SNP C C A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr2:42720041C>A ENST00000306078.1 - 1 1196 c.601G>T c.(601-603)Gcc>Tcc p.A201S KCNG3_ENST00000394973.4_Missense_Mutation_p.A201S NM_133329.5|NM_172344.2 NP_579875.1|NP_758847.1 Q8TAE7 KCNG3_HUMAN potassium voltage-gated channel, subfamily G, member 3 201 endoplasmic reticulum|voltage-gated potassium channel complex protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2) 6 CGGTTGTCGGCGGCTGCGTTG 0.687000 11 26 3.27435e-08 3.56046e-08 1 1 0 AXDND1 126859 broad.mit.edu 37 1 179335702 179335702 + Missense_Mutation SNP A A G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:179335702A>G ENST00000367618.3 + 2 445 c.58A>G c.(58-60)Aaa>Gaa p.K20E AXDND1_ENST00000457238.2_Missense_Mutation_p.K20E|AXDND1_ENST00000461179.2_Intron NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 20 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 ATCTGAGAGCAAAAAGTTAAA 0.418000 9 49 0 0 1 0 0 CCDC13 152206 broad.mit.edu 37 3 42777325 42777325 + Silent SNP C C T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr3:42777325C>T ENST00000310232.6 - 10 1328 c.1245G>A c.(1243-1245)ctG>ctA p.L415L CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 415 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 GTTGCTGGTCCAGGTGGTGCT 0.632000 12 54 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31323023 31323023 + Missense_Mutation SNP G G C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr5:31323023G>C ENST00000265071.2 + 12 2246 c.1981G>C c.(1981-1983)Gac>Cac p.D661H NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 661 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding p.D661N(1) NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CAGTTACAACGACGAAGGTGG 0.488000 11 48 0 0 1 0 0 RB1CC1 9821 broad.mit.edu 37 8 53573712 53573712 + Silent SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr8:53573712G>A ENST00000025008.5 - 10 2011 c.1488C>T c.(1486-1488)taC>taT p.Y496Y RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Silent_p.Y496Y|RB1CC1_ENST00000435644.2_Silent_p.Y496Y NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 496 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) CAGCTAAGCAGTACATCTGAG 0.363000 10 47 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178919316 178919316 + Silent SNP G G C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr3:178919316G>C ENST00000263967.3 + 4 958 c.801G>C c.(799-801)ctG>ctC p.L267L NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 267 PI3K-RBD. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATATCCTCTGAGTCAGTATA 0.274000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 3 28 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43532701 43532701 + Missense_Mutation SNP T T C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr7:43532701T>C ENST00000395891.2 + 19 3964 c.3359T>C c.(3358-3360)gTg>gCg p.V1120A HECW1_ENST00000453890.1_Missense_Mutation_p.V1086A NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 GACAAGATTGTGGCATTTCTT 0.463000 12 49 0 0 1 0 0 DUS1L 64118 broad.mit.edu 37 17 80017935 80017935 + Missense_Mutation SNP G G T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr17:80017935G>T ENST00000354321.7 - 10 1542 c.1057C>A c.(1057-1059)Cgc>Agc p.R353S DUS1L_ENST00000306796.5_Missense_Mutation_p.R353S Q6P1R4 DUS1L_HUMAN dihydrouridine synthase 1-like (S. cerevisiae) 353 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1) 6 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) CGCTTGCTGCGCGCACCTGCC 0.657000 4 19 0.184627 0.186291 1 1 0 UTP14C 9724 broad.mit.edu 37 13 52605023 52605023 + Missense_Mutation SNP G G C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr13:52605023G>C ENST00000521776.2 + 2 2816 c.2083G>C c.(2083-2085)Gaa>Caa p.E695Q NM_021645.5 NP_067677.4 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) 695 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 32 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) TCGGCAATTTGAAAGGACCAT 0.488000 6 126 0 0 1 0 0 ARSA 410 broad.mit.edu 37 22 51064043 51064043 + Missense_Mutation SNP G G A rs74315480 TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr22:51064043G>A ENST00000547307.1 - 7 1573 c.1168C>T c.(1168-1170)Cgg>Tgg p.R390W ARSA_ENST00000395619.3_Missense_Mutation_p.R392W|ARSA_ENST00000453344.2_Missense_Mutation_p.R306W|ARSA_ENST00000547805.1_Missense_Mutation_p.R390W|ARSA_ENST00000356098.5_Missense_Mutation_p.R392W|ARSA_ENST00000216124.5_Missense_Mutation_p.R392W|ARSA_ENST00000395621.3_Missense_Mutation_p.R392W P15289 ARSA_HUMAN arylsulfatase A 390 R -> Q (in MLD; juvenile-onset).|R -> W (in MLD; late-infantile and juvenile-onset). lysosome arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1) 9 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) Micafungin(DB01141) TTTCCAGTCCGCACAGCAAAA 0.647000 4 175 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr17:7577538C>T ENST00000420246.2 - 7 875 c.743G>A c.(742-744)cGg>cAg p.R248Q TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GATGGGCCTCCGGTTCATGCC 0.572000 R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 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) 22 64 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219892615 219892615 + Silent SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr2:219892615G>A ENST00000341552.5 - 13 2051 c.1968C>T c.(1966-1968)gtC>gtT p.V656V CCDC108_ENST00000441968.1_Silent_p.V656V|CCDC108_ENST00000409865.3_Silent_p.V645V|CCDC108_ENST00000453220.1_Silent_p.V656V|CCDC108_ENST00000410037.1_Silent_p.V591V NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 656 integral to membrane structural molecule activity p.V656V(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGTCTACCTCGACAGGCTCTA 0.617000 10 38 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95519013 95519013 + RNA SNP A A G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr2:95519013A>G ENST00000432432.2 - 0 538 NR_040113.1 TGCTCTCACTATACACAGCAT 0.438000 34 167 0 0 1 0 0 OR1J2 26740 broad.mit.edu 37 9 125273601 125273601 + Missense_Mutation SNP T T C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr9:125273601T>C ENST00000335302.5 + 1 521 c.521T>C c.(520-522)aTc>aCc p.I174T NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 GCGAACACCATCCCCCATGTC 0.527000 3 161 0 0 1 0 0 TOM1L1 10040 broad.mit.edu 37 17 52981124 52981124 + Silent SNP C C A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr17:52981124C>A ENST00000575882.1 + 2 467 c.114C>A c.(112-114)atC>atA p.I38I TOM1L1_ENST00000540336.1_5'UTR|TOM1L1_ENST00000572405.1_Silent_p.I3I|TOM1L1_ENST00000572158.1_Silent_p.I38I|TOM1L1_ENST00000570371.1_Silent_p.I38I|TOM1L1_ENST00000348161.4_Intron|TOM1L1_ENST00000536554.1_Intron|TOM1L1_ENST00000445275.2_Silent_p.I38I|TOM1L1_ENST00000575333.1_Silent_p.I38I NM_005486.2 NP_005477.2 O75674 TM1L1_HUMAN target of myb1 (chicken)-like 1 38 VHS. intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway cytosol|endosome membrane|Golgi stack|lysosome SH3 domain binding|ubiquitin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 15 TCATGCACATCTGTGACATAA 0.428000 6 78 3.09899e-07 3.30558e-07 1 1 0 CHAF1B 8208 broad.mit.edu 37 21 37781087 37781087 + Silent SNP A A C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr21:37781087A>C ENST00000314103.5 + 9 937 c.786A>C c.(784-786)gtA>gtC p.V262V NM_005441.2 NP_005432.1 Q13112 CAF1B_HUMAN chromatin assembly factor 1, subunit B (p60) cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|cytoplasm chromatin binding|histone binding|unfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2) 20 GTGAAAATGTAATGAATACCA 0.398000 6 64 0 0 1 0 0 ASGR1 432 broad.mit.edu 37 17 7077348 7077348 + Nonsense_Mutation SNP C C T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr17:7077348C>T ENST00000574388.1 - 6 1308 c.516G>A c.(514-516)tgG>tgA p.W172* ASGR1_ENST00000380920.4_Nonsense_Mutation_p.W110*|ASGR1_ENST00000269299.3_Nonsense_Mutation_p.W211*|ASGR1_ENST00000572879.1_Nonsense_Mutation_p.W71* P07306 ASGR1_HUMAN asialoglycoprotein receptor 1 211 C-type lectin. receptor-mediated endocytosis integral to plasma membrane asialoglycoprotein receptor activity|metal ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1) 10 GGAGGCCCATCCAGGTGTTCA 0.647000 12 67 0 0 1 0 0 TRAV13-1 28671 broad.mit.edu 37 14 22337022 22337022 + RNA SNP T T C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr14:22337022T>C ENST00000390436.2 + 0 3 CAATGACTGATCTTAATTGGG 0.443000 4 19 0 0 1 0 0 GLYATL2 219970 broad.mit.edu 37 11 58604562 58604562 + Missense_Mutation SNP T T C rs140678694 by1000genomes TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr11:58604562T>C ENST00000287275.1 - 5 792 c.402A>G c.(400-402)atA>atG p.I134M GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.I134M NM_145016.3 NP_659453.3 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 134 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) GTAATTCCGGTATAAAGAGGA 0.388000 5 68 0 0 1 0 0 ZBTB7B 51043 broad.mit.edu 37 1 154988705 154988705 + Missense_Mutation SNP G G T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:154988705G>T ENST00000368426.3 + 4 1301 c.1164G>T c.(1162-1164)aaG>aaT p.K388N ZBTB7B_ENST00000535420.1_Missense_Mutation_p.K388N|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.K388N|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.K422N NM_001256455.1 NP_001243384.1 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 388 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding p.K388N(2) endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGAACGACAAGCTGAAGATCC 0.632000 43 74 7.34454e-26 8.39377e-26 1 1 0 SMAD4 4089 broad.mit.edu 37 18 48575203 48575203 + Missense_Mutation SNP T T A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr18:48575203T>A ENST00000342988.3 + 3 935 c.397T>A c.(397-399)Tac>Aac p.Y133N SMAD4_ENST00000588745.1_Missense_Mutation_p.Y133N|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_Missense_Mutation_p.Y133N|SMAD4_ENST00000398417.2_Missense_Mutation_p.Y133N NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 133 MH1. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(4) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TCCATATCACTACGAACGAGT 0.348000 13 35 0 0 1 0 0 CBFA2T3 863 broad.mit.edu 37 16 88952449 88952449 + Silent SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr16:88952449G>A ENST00000268679.4 - 6 1209 c.813C>T c.(811-813)gaC>gaT p.D271D CBFA2T3_ENST00000436887.2_Silent_p.D246D|CBFA2T3_ENST00000448839.1_Silent_p.D195D|CBFA2T3_ENST00000360302.2_Silent_p.D185D|CBFA2T3_ENST00000327483.5_Silent_p.D185D|RP11-830F9.5_ENST00000565053.1_RNA NM_005187.5 NP_005178.4 O75081 MTG16_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 3 271 Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0275) AGGCGCTGGCGTCCAGCAGGA 0.657000 T RUNX1 AML 2 3 0 0 1 0 0 MYNN 55892 broad.mit.edu 37 3 169502469 169502469 + Nonsense_Mutation SNP A A T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr3:169502469A>T ENST00000349841.5 + 7 2206 c.1543A>T c.(1543-1545)Aag>Tag p.K515* MYNN_ENST00000356716.4_Nonsense_Mutation_p.K515*|MYNN_ENST00000544106.1_Intron NM_018657.4 NP_061127.1 Q9NPC7 MYNN_HUMAN myoneurin 515 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) TAAAAATTTAAAGAAGCACAA 0.264000 3 20 0 0 1 0 0 GLDN 342035 broad.mit.edu 37 15 51675642 51675642 + Missense_Mutation SNP G G T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr15:51675642G>T ENST00000335449.6 + 3 481 c.425G>T c.(424-426)gGa>gTa p.G142V GLDN_ENST00000396399.2_Missense_Mutation_p.G18V NM_181789.2 NP_861454.2 Q6ZMI3 GLDN_HUMAN gliomedin 142 Collagen-like 1. cell differentiation|nervous system development collagen|integral to membrane|plasma membrane central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) GGACCTTCTGGACCACCAGGT 0.502000 OREG0023124 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 130 2.39187e-15 2.70596e-15 1 1 0 SPTA1 6708 broad.mit.edu 37 1 158639226 158639226 + Missense_Mutation SNP T T A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:158639226T>A ENST00000368147.4 - 14 1985 c.1805A>T c.(1804-1806)aAa>aTa p.K602I NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TGCCAACTTTTTCTTCTTGTT 0.418000 94 189 0 0 1 0 0 COPS2 9318 broad.mit.edu 37 15 49423006 49423006 + Nonsense_Mutation SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr15:49423006G>A ENST00000388901.5 - 10 1028 c.955C>T c.(955-957)Cag>Tag p.Q319* COPS2_ENST00000542928.1_Nonsense_Mutation_p.Q255*|COPS2_ENST00000299259.6_Nonsense_Mutation_p.Q326* NM_001143887.1|NM_004236.3 NP_001137359.1|NP_004227.1 P61201 CSN2_HUMAN COP9 signalosome subunit 2 319 PCI. cullin deneddylation|transcription from RNA polymerase II promoter cytoplasm|signalosome protein binding|signal transducer activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2) 18 all_lung(180;0.0428) all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05) TCATTATTCTGATAGGCACTA 0.303000 5 24 0 0 1 0 0 ZFAS1 441951 broad.mit.edu 37 20 47896941 47896941 + RNA SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr20:47896941G>A ENST00000450535.1 + 0 644 ZFAS1_ENST00000458653.1_RNA|ZFAS1_ENST00000417721.1_RNA|ZFAS1_ENST00000371743.3_RNA|ZFAS1_ENST00000428008.1_RNA|SNORD12B_ENST00000410433.1_RNA|ZFAS1_ENST00000441722.1_RNA|ZFAS1_ENST00000326677.5_RNA TGTCTGATATGCCAGCTTGAG 0.438000 12 20 0 0 1 0 0 CAD 790 broad.mit.edu 37 2 27444089 27444089 + Missense_Mutation SNP T T G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr2:27444089T>G ENST00000264705.4 + 3 388 c.226T>G c.(226-228)Ttt>Gtt p.F76V CAD_ENST00000403525.1_Missense_Mutation_p.F76V NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 76 GATase (Glutamine amidotransferase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) TCTACAGTGGTTTGAATCCTC 0.532000 9 56 0 0 1 0 0 ANKRD34A 284615 broad.mit.edu 37 1 145473839 145473839 + Missense_Mutation SNP C C T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:145473839C>T ENST00000323397.4 + 4 1804 c.511C>T c.(511-513)Cct>Tct p.P171S NM_001039888.2 NP_001034977.1 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34A 171 endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 20 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGTGGAGGACCCTGCTCCCGC 0.627000 27 77 0 0 1 0 0 KIFC1 3833 broad.mit.edu 37 6 33371659 33371659 + Missense_Mutation SNP A A G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr6:33371659A>G ENST00000428849.2 + 6 959 c.509A>G c.(508-510)cAg>cGg p.Q170R NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 170 blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 CTTCAGGACCAGCTCAGAGAT 0.557000 6 96 0 0 1 0 0 ZNF443 10224 broad.mit.edu 37 19 12541141 12541141 + Silent SNP C C T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr19:12541141C>T ENST00000301547.5 - 4 2042 c.1845G>A c.(1843-1845)ccG>ccA p.P615P CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 615 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 TACATTCATACGGGTTCTCTC 0.403000 3 44 0 0 1 0 0 CSNK1A1 1452 broad.mit.edu 37 5 148904715 148904715 + Missense_Mutation SNP C C T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr5:148904715C>T ENST00000261798.5 - 3 682 c.250G>A c.(250-252)Gac>Aac p.D84N CSNK1A1_ENST00000515435.1_5'UTR|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.D84N|CSNK1A1_ENST00000377843.2_Missense_Mutation_p.D84N|CSNK1A1_ENST00000504676.1_5'UTR NM_001271741.1 NP_001258670.1 P48729 KC1A_HUMAN casein kinase 1, alpha 1 84 Protein kinase. cell division|mitosis|Wnt receptor signaling pathway centrosome|condensed chromosome kinetochore|cytosol|nuclear speck ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) ACATTGTAGTCTTTTTCCTGA 0.358000 5 14 0 0 1 0 0 NGF 4803 broad.mit.edu 37 1 115828746 115828746 + Missense_Mutation SNP C C T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:115828746C>T ENST00000369512.2 - 3 839 c.671G>A c.(670-672)cGg>cAg p.R224Q RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 224 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) CGTATCTATCCGGATAAACCG 0.572000 7 89 0 0 1 0 0 BAZ2A 11176 broad.mit.edu 37 12 57009072 57009072 + Silent SNP G G C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr12:57009072G>C ENST00000179765.5 - 3 655 c.456C>G c.(454-456)acC>acG p.T152T BAZ2A_ENST00000379441.3_Silent_p.T154T|BAZ2A_ENST00000549884.1_Silent_p.T152T|BAZ2A_ENST00000551812.1_Silent_p.T154T Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 154 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 TGGGACTCTGGGTACCGTTGG 0.517000 11 31 0 0 1 0 0 PI4KB 5298 broad.mit.edu 37 1 151271497 151271497 + Missense_Mutation SNP A A C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:151271497A>C ENST00000368875.2 - 10 2418 c.1838T>G c.(1837-1839)cTt>cGt p.L613R PI4KB_ENST00000529142.1_Missense_Mutation_p.L269R|PI4KB_ENST00000368873.1_Missense_Mutation_p.L601R|PI4KB_ENST00000368874.4_Missense_Mutation_p.L586R|PI4KB_ENST00000368872.1_Missense_Mutation_p.L586R|PI4KB_ENST00000271657.5_Missense_Mutation_p.L613R NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 601 PI3K/PI4K. phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CGAAATCACAAGAATCTTGTA 0.468000 44 101 0 0 1 0 0 IL17B 27190 broad.mit.edu 37 5 148753933 148753933 + Nonstop_Mutation SNP C C G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr5:148753933C>G ENST00000261796.3 - 3 592 c.542G>C c.(541-543)tGa>tCa p.*181S IL17B_ENST00000505432.1_5'UTR|RP11-394O4.3_ENST00000521756.1_RNA NM_014443.2 NP_055258.1 Q9UHF5 IL17B_HUMAN interleukin 17B 0 cell-cell signaling|immune response|inflammatory response extracellular space cytokine activity|signal transducer activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGGTGATTCAGAAGATGCA 0.617000 4 61 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 49039215 49039215 + Nonsense_Mutation SNP A A T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr13:49039215A>T ENST00000267163.4 + 22 2431 c.2293A>T c.(2293-2295)Aaa>Taa p.K765* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 765 Domain B.|Interaction with LIMD1.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(12)|p.K765*(1) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCAGAGACTGAAAACAAATAT 0.333000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 9 20 0 0 1 0 0 ALOXE3 59344 broad.mit.edu 37 17 8012598 8012598 + Missense_Mutation SNP A A C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr17:8012598A>C ENST00000380149.1 - 11 1954 c.1924T>G c.(1924-1926)Tac>Gac p.Y642D ALOXE3_ENST00000318227.3_Missense_Mutation_p.Y618D|ALOXE3_ENST00000448843.2_Missense_Mutation_p.Y486D Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 486 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 AAATTGGTGTAGGTGAAGTGG 0.657000 3 42 0 0 1 0 0 TRAV2 28691 broad.mit.edu 37 14 22180998 22180998 + RNA SNP C C G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr14:22180998C>G ENST00000390424.2 + 0 280 ATGAACGGTTCTCTTCATCGC 0.527000 5 106 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65871019 65871019 + Missense_Mutation SNP A A G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr17:65871019A>G ENST00000321892.4 + 4 1808 c.1747A>G c.(1747-1749)Act>Gct p.T583A BPTF_ENST00000306378.6_Missense_Mutation_p.T583A|BPTF_ENST00000424123.3_Missense_Mutation_p.T444A|BPTF_ENST00000335221.5_Missense_Mutation_p.T583A Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 583 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CAAGAATGAGACTGAGAATGA 0.363000 6 45 0 0 1 0 0 RC3H1 149041 broad.mit.edu 37 1 173916585 173916585 + Nonsense_Mutation SNP T T A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:173916585T>A ENST00000367696.2 - 15 3010 c.2659A>T c.(2659-2661)Aaa>Taa p.K887* RC3H1_ENST00000258349.4_Nonsense_Mutation_p.K887*|RC3H1_ENST00000367694.2_Nonsense_Mutation_p.K887* Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 887 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 TATATAGTTTTGGAAGTTCGT 0.463000 8 80 0 0 1 0 0 ITGA10 8515 broad.mit.edu 37 1 145527646 145527646 + Missense_Mutation SNP A A G rs140707071 TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:145527646A>G ENST00000369304.3 + 2 261 c.86A>G c.(85-87)cAc>cGc p.H29R ITGA10_ENST00000539363.1_Intron|ITGA10_ENST00000538811.1_Missense_Mutation_p.T4A NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 29 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity p.H29P(1) NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GATGAACATCACCCACGCCTA 0.527000 4 160 0 0 1 0 0 MIR34A 407040 broad.mit.edu 37 1 9211792 9211792 + RNA SNP C C T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:9211792C>T ENST00000385130.1 - 0 44 NR_029610.1 CTATTGCTCACAACAACCAGC 0.577000 50 273 0 0 1 0 0 SYT5 6861 broad.mit.edu 37 19 55690386 55690386 + Missense_Mutation SNP C C A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr19:55690386C>A ENST00000590851.1 - 1 372 c.188G>T c.(187-189)cGg>cTg p.R63L SYT5_ENST00000354308.3_Silent_p.P8P|SYT5_ENST00000537500.1_Silent_p.P8P O00445 SYT5_HUMAN synaptotagmin V 0 energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) ATGGAGGCCCCGGGGTTGGGG 0.667000 5 14 3.09899e-07 3.30558e-07 1 1 0 CR1 1378 broad.mit.edu 37 1 207758216 207758216 + Missense_Mutation SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:207758216G>A ENST00000367049.4 + 33 5525 c.5525G>A c.(5524-5526)cGt>cAt p.R1842H CR1_ENST00000367051.1_Missense_Mutation_p.R1392H|RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.R1392H|CR1_ENST00000367052.1_Missense_Mutation_p.R1392H|CR1_ENST00000367053.1_Missense_Mutation_p.R1392H NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1392 Sushi 28. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity p.R1397H(3)|p.R1842H(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTTTCTGTTCGTGCTGGTCAG 0.488000 16 160 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24492938 24492938 + Missense_Mutation SNP G G C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr5:24492938G>C ENST00000264463.4 - 10 2119 c.1612C>G c.(1612-1614)Cag>Gag p.Q538E CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 538 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) TCATTATCCTGTACTGTGAAG 0.348000 HNSCC(23;0.051) 5 114 0 0 1 0 0 IQSEC3 440073 broad.mit.edu 37 12 176584 176584 + Missense_Mutation SNP T T C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr12:176584T>C ENST00000538872.1 + 1 654 c.536T>C c.(535-537)gTc>gCc p.V179A IQSEC3_ENST00000326261.4_Missense_Mutation_p.V179A Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 179 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) GGCAAGGGCGTCCTGAGCAGG 0.657000 3 35 0 0 1 0 0 GSTM5 2949 broad.mit.edu 37 1 110257779 110257779 + Missense_Mutation SNP G G C TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:110257779G>C ENST00000369813.1 + 5 1266 c.361G>C c.(361-363)Gat>Cat p.D121H GSTM5_ENST00000369812.5_Missense_Mutation_p.D181H|GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000256593.3_Missense_Mutation_p.D162H P46439 GSTM5_HUMAN glutathione S-transferase mu 5 162 GST C-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 21 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) CCTTGCCTATGATGTCCTTGA 0.468000 8 114 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33521026 33521026 + Nonsense_Mutation SNP G G A rs139972846 TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr17:33521026G>A ENST00000297307.5 - 1 386 c.301C>T c.(301-303)Cga>Tga p.R101* NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 101 DUF6 1. integral to membrane GCCCGGCTTCGGATGTCAGGA 0.607000 43 133 0 0 1 0 0 DPP9 91039 broad.mit.edu 37 19 4704288 4704288 + Missense_Mutation SNP C C T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr19:4704288C>T ENST00000262960.9 - 6 732 c.455G>A c.(454-456)cGg>cAg p.R152Q DPP9_ENST00000594671.1_Missense_Mutation_p.R123Q|DPP9_ENST00000597849.1_Missense_Mutation_p.R152Q|DPP9_ENST00000598800.1_Missense_Mutation_p.R123Q NM_139159.4 NP_631898.3 Q86TI2 DPP9_HUMAN dipeptidyl-peptidase 9 123 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) CTCCTCCTCCCGAGAGTAGAC 0.642000 14 78 0 0 1 0 0 DHX34 9704 broad.mit.edu 37 19 47884572 47884572 + Missense_Mutation SNP G G A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr19:47884572G>A ENST00000328771.4 + 16 3638 c.3289G>A c.(3289-3291)Ggg>Agg p.G1097R NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 1097 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) CCCACAGGATGGGCCCCCAGG 0.672000 10 36 0 0 1 0 0 IL33 90865 broad.mit.edu 37 9 6251156 6251156 + Missense_Mutation SNP A A T TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr9:6251156A>T ENST00000381434.3 + 3 247 c.234A>T c.(232-234)agA>agT p.R78S IL33_ENST00000417746.2_Intron|IL33_ENST00000456383.2_Missense_Mutation_p.R78S NM_033439.3 NP_254274.1 O95760 IL33_HUMAN interleukin 33 78 positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter extracellular space cytokine activity breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1) 16 Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167) GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105) AGCACAAAAGACATCTGGTAC 0.478000 18 55 0 0 1 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150530506 150530506 + Frame_Shift_Del DEL G G - rs149280379 TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr1:150530506delG ENST00000271643.4 + 14 2499 c.2263delG c.(2263-2265)gggfs p.G758fs ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 758 TSP type-1 2. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GCAGGAATTTGGGGGGGGTGG 0.692 7 248 --- --- --- --- ERC2 26059 broad.mit.edu 37 3 55733470 55733472 + In_Frame_Del DEL TGG TGG - TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr3:55733470_55733472delTGG ENST00000288221.6 - 16 3036_3038 c.2781_2783delCCA c.(2779-2784)caccat>cat p.927_928HH>H NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 927 Poly-His. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) gtggtggtgatggtggtggtggt 0.502 9 464 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr4:146077123_146077125delCAG ENST00000454497.2 - 8 595_597 c.458_460delCTG c.(457-462)gctgat>gat p.A153del OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.A218del NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 218 OTU. protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) CCATTCACATCAGCAGCAGCAGC 0.340 8 264 --- --- --- --- IK 3550 broad.mit.edu 37 5 140032593 140032594 + Frame_Shift_Del DEL GA GA - TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr5:140032593_140032594delGA ENST00000417647.2 + 5 407_408 c.268_269delGA c.(268-270)gagfs p.E90fs IK_ENST00000523672.1_3'UTR NM_006083.3 NP_006074.2 Q13123 RED_HUMAN IK cytokine, down-regulator of HLA II 90 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAAGAAATTGAGAGAGAGAGA 0.460 7 50 --- --- --- --- SPRY4 81848 broad.mit.edu 37 5 141694361 141694363 + In_Frame_Del DEL TGC TGC - TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr5:141694361_141694363delTGC ENST00000344120.4 - 3 566_568 c.380_382delGCA c.(379-384)agcaca>aca p.S127del SPRY4_ENST00000434127.2_In_Frame_Del_p.S104del NM_030964.3 NP_112226.2 Q9C004 SPY4_HUMAN sprouty homolog 4 (Drosophila) 104 multicellular organismal development cytoplasm|ruffle membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1) 18 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGAGGATGTGCTGCTGCTGCT 0.660 Testicular Cancer, Familial Clustering of 8 212 --- --- --- --- CDKN1A 1026 broad.mit.edu 37 6 36652009 36652010 + Frame_Shift_Ins INS - - G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr6:36652009_36652010insG ENST00000405375.1 + 2 366_367 c.131_132insG c.(130-135)gaggccfs p.A45fs CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.A79fs|CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.A45fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.A45fs NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 45 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 TGCATCCAGGAGGCCCGTGAGC 0.658 12 65 --- --- --- --- ACTB 60 broad.mit.edu 37 7 5567428 5567429 + Frame_Shift_Ins INS - - G TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr7:5567428_5567429insG ENST00000331789.5 - 6 1269_1270 c.1078_1079insC c.(1078-1080)cagfs p.Q360fs ACTB_ENST00000464611.1_5'UTR NM_001101.3 NP_001092.1 P60709 ACTB_HUMAN actin, beta 360 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) GTCATACTCCTGCTTGCTGATC 0.550 27 351 --- --- --- --- ZNF703 80139 broad.mit.edu 37 8 37553556 37553558 + In_Frame_Del DEL GCG GCG - TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr8:37553556_37553558delGCG ENST00000331569.4 + 1 288_290 c.59_61delGCG c.(58-63)agcggc>agc p.G24del NM_025069.1 NP_079345.1 Q9H7S9 ZN703_HUMAN zinc finger protein 703 24 Poly-Gly. adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding FGFR1/ZNF703(2) breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09) ggcagcggcagcggcggcggcgg 0.739 2 4 --- --- --- --- RP11-586K2.1 0 broad.mit.edu 37 8 89498121 89498122 + RNA INS - - A TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr8:89498121_89498122insA ENST00000521433.1 + 0 179 RP11-586K2.1_ENST00000523254.1_RNA gaacagctatgaaaaaaaaaac 0.386 3 3 --- --- --- --- RP11-141M1.3 0 broad.mit.edu 37 13 33942665 33942667 + RNA DEL CAG CAG - TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr13:33942665_33942667delCAG ENST00000454681.2 - 0 308 TAGCAAGAAAcagcagcagcagc 0.419 3 3 --- --- --- --- KIF1C 10749 broad.mit.edu 37 17 4905382 4905382 + Frame_Shift_Del DEL G G - TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr17:4905382delG ENST00000320785.5 + 6 749 c.392delG c.(391-393)agtfs p.S131fs NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 131 Kinesin-motor. microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 TCTCGCGTTAGTGAGAACCAG 0.582 33 115 --- --- --- --- MIEF2 125170 broad.mit.edu 37 17 18167412 18167412 + Frame_Shift_Del DEL C C - TCGA-FD-A3B7-01A-31D-A20D-08 TCGA-FD-A3B7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc76c5bd-315d-4981-ae53-705f40d2c078 1e82025a-5704-46e6-ac57-8f4318969cc5 g.chr17:18167412delC ENST00000323019.4 + 4 910 c.699delC c.(697-699)tgcfs p.C233fs MIEF2_ENST00000395706.2_Frame_Shift_Del_p.C244fs|MIEF2_ENST00000395704.4_3'UTR|MIEF2_ENST00000577216.1_3'UTR NM_001144900.1|NM_139162.3 NP_001138372.1|NP_631901.2 mitochondrial elongation factor 2 233 TTGAGTTCTGCCCCCGTGGGA 0.706 2 4 --- --- --- ---