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 ART5 116969 broad.mit.edu 37 11 3660100 3660100 + Nonsense_Mutation SNP C C T TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr11:3660100C>T ENST00000397067.3 - 4 795 c.666G>A c.(664-666)tgG>tgA p.W222* ART5_ENST00000397068.3_Intron|ART5_ENST00000359918.4_Intron Q96L15 NAR5_HUMAN ADP-ribosyltransferase 5 219 extracellular region NAD(P)+-protein-arginine ADP-ribosyltransferase activity breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1) 11 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19) GCAGAGTCTTCCAGGGGGGCA 0.612000 3 25 0 0 1 0 0 ZNF177 7730 broad.mit.edu 37 19 9492389 9492389 + Missense_Mutation SNP T T G TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr19:9492389T>G ENST00000541595.2 + 12 1531 c.902T>G c.(901-903)tTt>tGt p.F301C ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000602738.1_Missense_Mutation_p.F301C|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000589262.1_Missense_Mutation_p.F461C|ZNF177_ENST00000434737.2_Missense_Mutation_p.F461C|ZNF177_ENST00000343499.4_Missense_Mutation_p.F301C NM_001172650.2 NP_001166121.1 Q13360 ZN177_HUMAN zinc finger protein 177 301 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2) 13 GAAAAAGCCTTTAGCACAAGC 0.448000 32 151 0 0 1 0 0 AURKAIP1 54998 broad.mit.edu 37 1 1309600 1309600 + Missense_Mutation SNP C C T TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr1:1309600C>T ENST00000338370.3 - 2 678 c.278G>A c.(277-279)gGg>gAg p.G93E AURKAIP1_ENST00000321751.5_Missense_Mutation_p.G93E|AURKAIP1_ENST00000338338.5_Missense_Mutation_p.G93E|AURKAIP1_ENST00000378853.3_Missense_Mutation_p.G93E Q9NWT8 AKIP_HUMAN aurora kinase A interacting protein 1 93 negative regulation of mitosis|positive regulation of proteolysis mitochondrion|nucleus protein binding kidney(1)|lung(2) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) AGCCACAGTCCCTGCGGTCCC 0.657000 6 66 0 0 1 0 0 FAM86C2P 0 broad.mit.edu 37 11 67564238 67564238 + RNA SNP C C T rs77785393 by1000genomes TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr11:67564238C>T ENST00000528089.1 - 0 902 CTGGTGCTCCCGGCAGGCAGC 0.612000 4 62 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121358800 121358800 + Silent SNP T T A TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr11:121358800T>A ENST00000260197.7 + 4 717 c.588T>A c.(586-588)acT>acA p.T196T SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 196 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TCTGCAACACTCTTCAAGGCT 0.517000 64 275 0 0 1 0 0 TAF1C 9013 broad.mit.edu 37 16 84213255 84213255 + Silent SNP G G A rs145273391 TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr16:84213255G>A ENST00000567759.1 - 14 2084 c.1902C>T c.(1900-1902)gcC>gcT p.A634A TAF1C_ENST00000566732.1_Silent_p.A608A|TAF1C_ENST00000570117.1_Silent_p.A302A|TAF1C_ENST00000541676.1_Silent_p.A541A|TAF1C_ENST00000378541.4_Silent_p.A634A|TAF1C_ENST00000341690.6_Silent_p.A540A NM_005679.3 NP_005670.3 Q15572 TAF1C_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa 634 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 26 GGCTGCAGCCGGCAGTGTCCT 0.662000 4 37 0 0 1 0 0 ESYT3 83850 broad.mit.edu 37 3 138191379 138191379 + Missense_Mutation SNP G G C rs72976634 by1000genomes TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr3:138191379G>C ENST00000389567.4 + 18 2101 c.1915G>C c.(1915-1917)Gac>Cac p.D639H NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 639 integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 TGATACTAAGGACGTATCCAG 0.557000 6 139 0 0 1 0 0 KCNK6 9424 broad.mit.edu 37 19 38817239 38817239 + Missense_Mutation SNP G G A TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr19:38817239G>A ENST00000263372.3 + 2 436 c.329G>A c.(328-330)gGg>gAg p.G110E NM_004823.1 NP_004814.1 Q9Y257 KCNK6_HUMAN potassium channel, subfamily K, member 6 110 voltage-gated potassium channel complex inward rectifier potassium channel activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3) 17 all_cancers(60;5.83e-07) Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613) Ibutilide(DB00308)|Quinidine(DB00908) CTAGGCTATGGGTACACAACG 0.572000 8 134 0 0 1 0 0 C19orf48 84798 broad.mit.edu 37 19 51301519 51301519 + Missense_Mutation SNP G G C rs144495841 byFrequency TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr19:51301519G>C ENST00000598463.1 - 5 1285 c.187C>G c.(187-189)Cta>Gta p.L63V C19orf48_ENST00000391812.1_Missense_Mutation_p.L63V|C19orf48_ENST00000345523.4_Missense_Mutation_p.L63V|C19orf48_ENST00000596655.1_Missense_Mutation_p.L63V Q6RUI8 CS048_HUMAN chromosome 19 open reading frame 48 63 endometrium(1)|kidney(1)|lung(1)|ovary(1) 4 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145) TCCTCCCCTAGCCTGCAGGAA 0.617000 6 122 0 0 1 0 0 PCBP3 54039 broad.mit.edu 37 21 47333995 47333995 + Missense_Mutation SNP A A C TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr21:47333995A>C ENST00000400304.1 + 7 635 c.635A>C c.(634-636)cAc>cCc p.H212P PCBP3_ENST00000400309.1_Intron|PCBP3_ENST00000400310.1_Intron|PCBP3_ENST00000449640.1_Intron|PCBP3_ENST00000400314.1_Intron|PCBP3_ENST00000468429.1_Intron|PCBP3_ENST00000400308.1_Intron P57721 PCBP3_HUMAN poly(rC) binding protein 3 225 mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) TTACTGCAGCACCCGCCGCTG 0.627000 6 14 0 0 1 0 0 EIF3A 8661 broad.mit.edu 37 10 120802275 120802275 + Missense_Mutation SNP T T G TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr10:120802275T>G ENST00000369144.3 - 19 2884 c.2757A>C c.(2755-2757)agA>agC p.R919S EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.R885S NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 919 formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) CTTCTCCACGTCTCCACTCCC 0.423000 9 144 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109690903 109690903 + Silent SNP C C T TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr12:109690903C>T ENST00000338432.7 + 43 6104 c.5985C>T c.(5983-5985)acC>acT p.T1995T ACACB_ENST00000377848.3_Silent_p.T1995T|ACACB_ENST00000377854.5_Silent_p.T1925T|ACACB_ENST00000543201.1_Silent_p.T661T O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1995 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) CCCACATCACCGTGCCAGATG 0.512000 33 241 0 0 1 0 0 MRPS7 51081 broad.mit.edu 37 17 73258504 73258504 + Missense_Mutation SNP T T C rs116366134 by1000genomes TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr17:73258504T>C ENST00000579002.1 + 1 512 c.97T>C c.(97-99)Tgc>Cgc p.C33R MRPS7_ENST00000579761.1_Intron|MRPS7_ENST00000245539.6_Intron Q9Y2R9 RT07_HUMAN mitochondrial ribosomal protein S7 0 translation cytosolic small ribosomal subunit|mitochondrion protein binding|RNA binding|structural constituent of ribosome breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2) 6 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) TTGGCAGTCATGCCTATTGTT 0.587000 6 132 0 0 1 0 0 MRPS5 64969 broad.mit.edu 37 2 95773974 95773974 + Missense_Mutation SNP C C T TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr2:95773974C>T ENST00000272418.2 - 5 791 c.583G>A c.(583-585)Gga>Aga p.G195R NM_031902.3 NP_114108.1 P82675 RT05_HUMAN mitochondrial ribosomal protein S5 195 translation mitochondrion|ribosome protein binding|RNA binding|structural constituent of ribosome central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 CATGAGTTTCCACTCCATCCT 0.532000 14 89 0 0 1 0 0 WNK3 65267 broad.mit.edu 37 X 54335536 54335536 + Missense_Mutation SNP C C A TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chrX:54335536C>A ENST00000354646.2 - 4 1361 c.923G>T c.(922-924)aGt>aTt p.S308I WNK3_ENST00000375169.3_Missense_Mutation_p.S308I|WNK3_ENST00000375159.2_Missense_Mutation_p.S308I NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 308 Protein kinase. intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 ACCAATGACACTCTTAGCAAA 0.413000 16 48 9.16793e-09 9.72695e-09 1 1 0 ZFPL1 7542 broad.mit.edu 37 11 64855417 64855417 + Missense_Mutation SNP G G A TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr11:64855417G>A ENST00000294258.3 + 8 916 c.764G>A c.(763-765)cGg>cAg p.R255Q NM_006782.3 NP_006773.2 O95159 ZFPL1_HUMAN zinc finger protein-like 1 255 regulation of transcription, DNA-dependent|vesicle-mediated transport Golgi apparatus|integral to membrane|nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 GCTGGGTCTCGGAAGCGGCCG 0.697000 12 73 0 0 1 0 0 ZNF706 51123 broad.mit.edu 37 8 102213962 102213962 + Missense_Mutation SNP C C G TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr8:102213962C>G ENST00000520347.1 - 2 2964 c.8G>C c.(7-9)cGt>cCt p.R3P ZNF706_ENST00000518336.1_Missense_Mutation_p.R3P|ZNF706_ENST00000517844.1_Missense_Mutation_p.R3P|ZNF706_ENST00000311212.4_Missense_Mutation_p.R3P|ZNF706_ENST00000521272.1_Missense_Mutation_p.R3P|ZNF706_ENST00000520984.1_Missense_Mutation_p.R3P|ZNF706_ENST00000519882.1_Missense_Mutation_p.R3P|ZNF706_ENST00000519744.1_Missense_Mutation_p.R3P Q9Y5V0 ZN706_HUMAN zinc finger protein 706 3 intracellular zinc ion binding p.R3P(2) large_intestine(1)|ovary(2) 3 all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117) Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05) CTGCTGTCCACGAGCCATATC 0.398000 5 24 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 3 31 0 0 1 0 0 PTCD1 26024 broad.mit.edu 37 7 99032678 99032678 + Missense_Mutation SNP G G A TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr7:99032678G>A ENST00000292478.4 - 2 438 c.188C>T c.(187-189)aCg>aTg p.T63M PTCD1_ENST00000555673.1_Missense_Mutation_p.T112M|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.T112M NM_015545.3 NP_056360.2 pentatricopeptide repeat domain 1 endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) CAGGCTGCCCGTGTTTTCCTG 0.642000 5 63 0 0 1 0 0 IDH2 3418 broad.mit.edu 37 15 90631838 90631838 + Missense_Mutation SNP C C T rs121913503 TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr15:90631838C>T ENST00000330062.3 - 4 628 c.515G>A c.(514-516)aGg>aAg p.R172K IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K NM_002168.2 NP_002159.2 P48735 IDHP_HUMAN isocitrate dehydrogenase 2 (NADP+), mitochondrial 172 2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding p.R172K(116)|p.R172M(21)|p.R172N(1) biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5) 1109 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106) ATGGGCGTGCCTGCCAATGGT 0.632000 M GBM 15 66 0 0 1 0 0 GYG1 2992 broad.mit.edu 37 3 148744693 148744693 + Missense_Mutation SNP G G C TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr3:148744693G>C ENST00000345003.4 + 8 1326 c.1026G>C c.(1024-1026)aaG>aaC p.K342N GYG1_ENST00000479119.1_3'UTR|GYG1_ENST00000296048.6_Missense_Mutation_p.K325N|GYG1_ENST00000484197.1_Missense_Mutation_p.R252T NM_004130.3 NP_004121.2 P46976 GLYG_HUMAN glycogenin 1 342 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol glycogenin glucosyltransferase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1) 8 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) ACAACATCAAGAGGAAACTTG 0.458000 8 99 0 0 1 0 0 MLLT4 4301 broad.mit.edu 37 6 168352193 168352193 + Missense_Mutation SNP G G A rs78299900 byFrequency TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr6:168352193G>A ENST00000366806.2 + 30 4280 c.4138G>A c.(4138-4140)Gat>Aat p.D1380N MLLT4_ENST00000392112.1_Missense_Mutation_p.D1363N|MLLT4_ENST00000351017.4_Missense_Mutation_p.D1387N|MLLT4_ENST00000344191.4_Missense_Mutation_p.D1380N|MLLT4_ENST00000447894.2_Missense_Mutation_p.D1380N|MLLT4_ENST00000400822.3_Missense_Mutation_p.D1379N|MLLT4_ENST00000392108.3_Missense_Mutation_p.D1380N P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 1380 Pro-rich. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) CGGTGATTTCGATGGAATGTC 0.627000 T MLL AL 6 134 0 0 1 0 0 QSOX2 169714 broad.mit.edu 37 9 139118662 139118662 + Silent SNP G G A TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr9:139118662G>A ENST00000358701.5 - 2 424 c.387C>T c.(385-387)gcC>gcT p.A129A NM_181701.3 NP_859052.3 Q6ZRP7 QSOX2_HUMAN quiescin Q6 sulfhydryl oxidase 2 129 Thioredoxin. cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) CATGGCACACGGCCTGGTTCT 0.562000 OREG0019616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 161 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240511 39240511 + Missense_Mutation SNP A A T rs383835 by1000genomes TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr17:39240511A>T ENST00000391417.4 + 1 53 c.53A>T c.(52-54)gAc>gTc p.D18V NM_033061.3 NP_149050.3 keratin associated protein 4-7 NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 TGCAGCCAAGACCTCTGTCAG 0.612000 5 27 0 0 1 0 0 FAM86C2P 0 broad.mit.edu 37 11 67564241 67564241 + RNA SNP C C T rs80309804 by1000genomes TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr11:67564241C>T ENST00000528089.1 - 0 899 GTGCTCCCGGCAGGCAGCCAG 0.612000 4 61 0 0 1 0 0 HERPUD2 64224 broad.mit.edu 37 7 35707097 35707097 + Silent SNP T T C TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr7:35707097T>C ENST00000396081.1 - 4 1245 c.441A>G c.(439-441)ccA>ccG p.P147P HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Silent_p.P147P NM_022373.4 NP_071768.3 Q9BSE4 HERP2_HUMAN HERPUD family member 2 147 response to unfolded protein integral to membrane kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1) 18 TTTGTGCTTGTGGAAGGGTAC 0.458000 28 110 0 0 1 0 0 OR5M11 219487 broad.mit.edu 37 11 56310625 56310625 + Missense_Mutation SNP C C T TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr11:56310625C>T ENST00000528616.2 - 1 132 c.109G>A c.(109-111)Gtc>Atc p.V37I NM_001005245.1 NP_001005245.1 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, member 11 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 AGCAGGGTGACGAGGTAAACA 0.473000 5 103 0 0 1 0 0 PCDHA10 0 broad.mit.edu 37 5 140237337 140237337 + Silent SNP C C G rs7725388 by1000genomes TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr5:140237337C>G ENST00000307360.5 + 1 1704 c.1704C>G c.(1702-1704)ccC>ccG p.P568P PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCGTCTCCCGCTGGCAGCG 0.692000 4 66 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115380379 115380379 + Missense_Mutation SNP C C T TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr10:115380379C>T ENST00000369358.4 - 25 3126 c.2882G>A c.(2881-2883)gGa>gAa p.G961E NRAP_ENST00000359988.3_Missense_Mutation_p.G953E|NRAP_ENST00000369360.3_Missense_Mutation_p.G926E|NRAP_ENST00000360478.3_Missense_Mutation_p.G918E Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 953 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) AATGAGTTCTCCTGCCTTCTT 0.498000 8 102 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30318651 30318651 + Silent SNP G G A TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr10:30318651G>A ENST00000375377.1 - 3 527 c.426C>T c.(424-426)gcC>gcT p.A142A NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 142 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 GCAGGCTGTGGGCTTGGGCCA 0.572000 34 227 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50723230 50723230 + Nonsense_Mutation SNP G G C TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr2:50723230G>C ENST00000404971.1 - 16 4342 c.3003C>G c.(3001-3003)taC>taG p.Y1001* NRXN1_ENST00000401669.2_Nonsense_Mutation_p.Y961*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.Y953*|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.Y961*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.Y961*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.Y953*|NRXN1_ENST00000331040.5_5'UTR NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 961 Laminin G-like 5. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CGTAATGTAAGTACCTGGGAA 0.353000 4 11 0 0 1 0 0 SDPR 8436 broad.mit.edu 37 2 192700918 192700918 + Missense_Mutation SNP G G A rs115736105 byFrequency TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr2:192700918G>A ENST00000304141.4 - 2 1338 c.1009C>T c.(1009-1011)Cat>Tat p.H337Y NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 337 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) GCTTCGGAATGACCCTCTGCA 0.567000 7 146 0 0 1 0 0 AJ271736.10 0 broad.mit.edu 37 X 155254983 155254983 + RNA SNP G G C rs140608299 by1000genomes TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chrX:155254983G>C ENST00000285718.7 + 0 1288 WASH6P_ENST00000461007.1_RNA CATCCCTCCTGTGCCCCCACC 0.647000 4 42 0 0 1 0 0 LATS2 26524 broad.mit.edu 37 13 21557659 21557659 + Missense_Mutation SNP A A T TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr13:21557659A>T ENST00000382592.4 - 5 2591 c.2186T>A c.(2185-2187)gTc>gAc p.V729D LATS2_ENST00000542899.1_Missense_Mutation_p.V729D NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 729 Protein kinase. cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) GTAGAGTTTGACCACCCACTC 0.537000 13 172 0 0 1 0 0 TLR6 10333 broad.mit.edu 37 4 38829218 38829218 + Missense_Mutation SNP C C T TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr4:38829218C>T ENST00000436693.2 - 2 1996 c.1877G>A c.(1876-1878)cGc>cAc p.R626H TLR6_ENST00000381950.1_Missense_Mutation_p.R626H NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 626 activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CCTGGCCCTGCGCCGAGTCTG 0.502000 21 106 0 0 1 0 0 ARMC5 79798 broad.mit.edu 37 16 31470908 31470908 + Silent SNP G G A TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr16:31470908G>A ENST00000457010.2 + 1 764 c.63G>A c.(61-63)gcG>gcA p.A21A ARMC5_ENST00000268314.4_Silent_p.A21A|ARMC5_ENST00000408912.3_Silent_p.A116A|ARMC5_ENST00000538189.1_Silent_p.A53A|ARMC5_ENST00000563544.1_Silent_p.A21A|RP11-452L6.5_ENST00000564629.1_RNA NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 21 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 AGCTCGCGGCGGCGGCCGGGG 0.711000 3 16 0 0 1 0 0 NAB2 4665 broad.mit.edu 37 12 57485446 57485446 + Missense_Mutation SNP T T C TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr12:57485446T>C ENST00000300131.3 + 2 1000 c.622T>C c.(622-624)Ttc>Ctc p.F208L NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Missense_Mutation_p.F208L|NAB2_ENST00000357680.4_Missense_Mutation_p.F208L NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 208 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity p.F208L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 CTCGCCCCCCTTCTCCCCCCC 0.716000 7 38 0 0 1 0 0 CEP170B 283638 broad.mit.edu 37 14 105360916 105360916 + Missense_Mutation SNP C C A TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr14:105360916C>A ENST00000453495.1 + 18 4744 c.4516C>A c.(4516-4518)Cag>Aag p.Q1506K CEP170B_ENST00000556508.1_Missense_Mutation_p.Q1435K|CEP170B_ENST00000414716.3_Missense_Mutation_p.Q1470K|CEP170B_ENST00000418279.1_Missense_Mutation_p.Q1400K centrosomal protein 170B GGTGCAGAAACAGCTGGAAGG 0.617000 3 28 0.115264 0.115264 1 1 0 OTOGL 283310 broad.mit.edu 37 12 80749688 80749688 + Silent SNP C C T TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr12:80749688C>T ENST00000458043.2 + 46 5745 c.5739C>T c.(5737-5739)ggC>ggT p.G1913G OTOGL_ENST00000547103.1_Silent_p.G1901G NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TTGTCATGGGCATCATTGATA 0.393000 22 181 0 0 1 0 0 N4BP2 55728 broad.mit.edu 37 4 40104251 40104252 + Frame_Shift_Ins INS - - A TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr4:40104251_40104252insA ENST00000261435.6 + 4 1202_1203 c.786_787insA c.(784-789)ctatcafs p.S263fs NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 263 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 GTAGCAGTCTCAATCAAAAACA 0.411 12 51 --- --- --- --- OR4N2 390429 broad.mit.edu 37 14 20296055 20296056 + Frame_Shift_Ins INS - - T rs149523724 by1000genomes TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr14:20296055_20296056insT ENST00000568211.1 + 1 448_449 c.448_449insT c.(448-450)tggfs p.W150fs OR4N2_ENST00000315947.1_Frame_Shift_Ins_p.W150fs Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGCTCTGTGGCTTGGGGGTTTT 0.530 49 393 --- --- --- --- C16orf62 57020 broad.mit.edu 37 16 19580757 19580757 + Frame_Shift_Del DEL A A - TCGA-HT-8113-01A-11D-2395-08 TCGA-HT-8113-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d fcc61745-3e32-4bb2-843c-73edb053d9cf g.chr16:19580757delA ENST00000438132.3 + 3 444 c.396delA c.(394-396)tcfs p.S132fs C16orf62_ENST00000542263.1_Frame_Shift_Del_p.S132fs|C16orf62_ENST00000251143.5_Frame_Shift_Del_p.S43fs|C16orf62_ENST00000538853.1_Frame_Shift_Del_p.S132fs|C16orf62_ENST00000417362.2_Frame_Shift_Del_p.S43fs NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 43 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 TCACAGAGTCAAAGACAAAGA 0.527 8 50 --- --- --- ---