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 SACM1L 22908 broad.mit.edu 37 3 45776852 45776852 + Missense_Mutation SNP A A G TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr3:45776852A>G ENST00000389061.5 + 14 1430 c.1226A>G c.(1225-1227)cAg>cGg p.Q409R SACM1L_ENST00000541314.1_Missense_Mutation_p.Q348R|SACM1L_ENST00000418611.1_Missense_Mutation_p.Q306R NM_014016.3 NP_054735.3 Q9NTJ5 SAC1_HUMAN SAC1 suppressor of actin mutations 1-like (yeast) 409 SAC. Golgi apparatus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277) CGTTCACTTCAGGCCCAACTT 0.383000 3 80 0 0 0.009096 0 0 KCNT2 343450 broad.mit.edu 37 1 196398768 196398768 + Missense_Mutation SNP C C A TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr1:196398768C>A ENST00000367433.5 - 9 859 c.758G>T c.(757-759)tGg>tTg p.W253L KCNT2_ENST00000367431.4_Missense_Mutation_p.W253L|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.W253L Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 253 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 CTTGGAGGACCATGTTTCAGG 0.408000 15 28 4.14922e-12 5.60913e-12 0.004007 1 0 RNASET2 8635 broad.mit.edu 37 6 167343248 167343248 + Missense_Mutation SNP T T G TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr6:167343248T>G ENST00000366855.6 - 10 1160 c.485A>C c.(484-486)gAa>gCa p.E162A RNASET2_ENST00000508775.1_Missense_Mutation_p.E200A|RNASET2_ENST00000476238.2_Missense_Mutation_p.E200A|RP11-514O12.4_ENST00000507747.1_Intron O00584 RNT2_HUMAN ribonuclease T2 200 RNA catabolic process extracellular region ribonuclease T2 activity|RNA binding large_intestine(4)|lung(4) 8 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665) GAGGCACAGTTCTATCTGACC 0.493000 4 161 0 0 0.009096 0 0 CEP170B 283638 broad.mit.edu 37 14 105361169 105361169 + Silent SNP A A C TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr14:105361169A>C ENST00000453495.1 + 19 4875 c.4647A>C c.(4645-4647)tcA>tcC p.S1549S CEP170B_ENST00000414716.3_Silent_p.S1513S|CEP170B_ENST00000556508.1_Silent_p.S1478S|CEP170B_ENST00000418279.1_Silent_p.S1443S centrosomal protein 170B p.S1513S(3)|p.S1479S(3)|p.S1478S(1) GCCCACCCTCACCCGCCTCAG 0.711000 5 27 0 0 0.006214 0 0 KRTAP11-1 0 broad.mit.edu 37 21 32253539 32253539 + Missense_Mutation SNP C C T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr21:32253539C>T ENST00000332378.4 - 1 335 c.305G>A c.(304-306)cGg>cAg p.R102Q NM_175858.2 NP_787054.1 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 102 keratin filament structural molecule activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1) 18 GGTGAGCGGCCGGCTGTAGGT 0.562000 36 51 0 0 0.003271 0 0 DHX30 22907 broad.mit.edu 37 3 47884611 47884611 + Missense_Mutation SNP C C G TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr3:47884611C>G ENST00000446256.2 + 10 1260 c.688C>G c.(688-690)Cat>Gat p.H230D DHX30_ENST00000348968.4_Missense_Mutation_p.H241D|DHX30_ENST00000457607.1_Missense_Mutation_p.H297D|DHX30_ENST00000445061.1_Missense_Mutation_p.H269D NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 269 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) CATGCAGTTCCATACTGTGGG 0.537000 56 143 0 0 0.003610 0 0 GABRA3 2556 broad.mit.edu 37 X 151514068 151514068 + Nonsense_Mutation SNP G G A TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chrX:151514068G>A ENST00000370314.4 - 3 485 c.247C>T c.(247-249)Cga>Tga p.R83* GABRA3_ENST00000535043.1_Nonsense_Mutation_p.R83*|GABRA3_ENST00000370311.1_Nonsense_Mutation_p.R83* NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 83 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AGCCCAGGTCGCAGCCGGTTG 0.453000 4 55 0 0 0.009096 0 0 FAM135B 51059 broad.mit.edu 37 8 139209802 139209802 + Silent SNP C C T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr8:139209802C>T ENST00000395297.1 - 8 950 c.780G>A c.(778-780)ctG>ctA p.L260L NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 260 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GCATGATCACCAGGAAGTGGA 0.617000 HNSCC(54;0.14) 14 69 0 0 0.001855 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 8 68 0 0 0.004482 0 0 AKAP9 10142 broad.mit.edu 37 7 91621525 91621525 + Splice_Site SNP G G T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr7:91621525G>T ENST00000359028.2 + 5 666 c.441_splice c.e5+1 p.R147_splice AKAP9_ENST00000394564.1_Splice_Site_p.R135_splice|AKAP9_ENST00000358100.2_Splice_Site_p.R147_splice|AKAP9_ENST00000356239.3_Splice_Site_p.R135_splice Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 147 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ATTTATTAAGGGTACAGTATT 0.294000 T BRAF papillary thyroid 16 128 1.15088e-07 1.50025e-07 0.004007 1 0 KIAA0907 22889 broad.mit.edu 37 1 155891693 155891693 + Missense_Mutation SNP G G C TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr1:155891693G>C ENST00000368320.3 - 9 996 c.971C>G c.(970-972)tCt>tGt p.S324C KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368321.3_Missense_Mutation_p.S324C|KIAA0907_ENST00000368319.3_Missense_Mutation_p.S324C Q7Z7F0 K0907_HUMAN KIAA0907 324 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) CACAAATCTAGAGTATTCAGC 0.363000 9 24 0 0 0.004482 0 0 TINAG 27283 broad.mit.edu 37 6 54219401 54219401 + Missense_Mutation SNP G G A TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr6:54219401G>A ENST00000259782.4 + 9 1313 c.1217G>A c.(1216-1218)cGa>cAa p.R406Q NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 406 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) GAAAAATATCGAAAGCTTCAG 0.318000 5 52 0 0 0.000602 0 0 NHS 4810 broad.mit.edu 37 X 17705984 17705984 + Missense_Mutation SNP G G A rs78153843 byFrequency TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chrX:17705984G>A ENST00000380060.3 + 2 1026 c.688G>A c.(688-690)Gcc>Acc p.A230T NHS_ENST00000398097.3_Missense_Mutation_p.A53T NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 230 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) GCACCGCCACGCCCGGCAGAG 0.647000 8 28 0 0 0.006214 0 0 A4GNT 51146 broad.mit.edu 37 3 137849815 137849815 + Missense_Mutation SNP G G A rs145157166 byFrequency TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr3:137849815G>A ENST00000236709.3 - 2 485 c.284C>T c.(283-285)cCg>cTg p.P95L NM_016161.2 NP_057245.1 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 95 protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7) 16 TGAGGGCATCGGTGTGGAATC 0.478000 52 70 0 0 0.003610 0 0 KCNT2 343450 broad.mit.edu 37 1 196285089 196285089 + Missense_Mutation SNP T T A TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr1:196285089T>A ENST00000367433.5 - 20 2445 c.2344A>T c.(2344-2346)Acc>Tcc p.T782S KCNT2_ENST00000367431.4_Missense_Mutation_p.T732S|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.T806S Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 806 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 GCACTCATGGTGCTCTCTTTA 0.433000 14 23 0 0 0.003163 0 0 PIDD 55367 broad.mit.edu 37 11 803450 803450 + Silent SNP G G A TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr11:803450G>A ENST00000347755.5 - 3 574 c.433C>T c.(433-435)Ctg>Ttg p.L145L PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Silent_p.L145L NM_145886.3|NM_145887.3 NP_665893.2|NP_665894.2 Q9HB75 PIDD_HUMAN p53-induced death domain protein 145 apoptosis|signal transduction cytoplasm|nucleus death receptor binding CGCATCTGCAGGACACAGGCC 0.657000 4 85 0 0 0.001168 0 0 ARL6 84100 broad.mit.edu 37 3 97499479 97499479 + Missense_Mutation SNP A A G TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr3:97499479A>G ENST00000463745.1 + 4 683 c.206A>G c.(205-207)gAc>gGc p.D69G ARL6_ENST00000394206.1_Missense_Mutation_p.D69G|ARL6_ENST00000335979.2_Missense_Mutation_p.D69G|ARL6_ENST00000496713.1_3'UTR NM_001278293.1 NP_001265222.1 Q9H0F7 ARL6_HUMAN ADP-ribosylation factor-like 6 69 cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body GTP binding|metal ion binding|phospholipid binding|protein binding large_intestine(1)|lung(4) 5 Lung NSC(201;0.0193)|Prostate(884;0.174) LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189) ACAGTGTTTGACATGTCAGGT 0.269000 3 85 0 0 0.009096 0 0 MAP3K12 7786 broad.mit.edu 37 12 53878999 53878999 + Splice_Site SNP C C G TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr12:53878999C>G ENST00000267079.2 - 7 1107 c.e7-1 MAP3K12_ENST00000547035.1_Splice_Site|MAP3K12_ENST00000547488.1_Splice_Site NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 GCCAAAGGACCTAGGGATGAG 0.542000 23 50 0 0 0.002780 0 0 SCN8A 6334 broad.mit.edu 37 12 52200655 52200655 + Silent SNP C C T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr12:52200655C>T ENST00000354534.5 + 27 5563 c.5385C>T c.(5383-5385)ttC>ttT p.F1795F SCN8A_ENST00000545061.1_Silent_p.F1754F NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1795 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) GGGAGAAGTTCGACCCCGATG 0.517000 56 69 0 0 0.003610 0 0 TRIM29 23650 broad.mit.edu 37 11 120008221 120008221 + Silent SNP G G A TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr11:120008221G>A ENST00000341846.5 - 1 940 c.519C>T c.(517-519)tgC>tgT p.C173C NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 173 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) TGCAGGAGTCGCACAGCACCT 0.662000 11 59 0 0 0.008291 0 0 GK5 256356 broad.mit.edu 37 3 141896383 141896383 + Missense_Mutation SNP C C A TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr3:141896383C>A ENST00000392993.2 - 12 1235 c.1084G>T c.(1084-1086)Gcc>Tcc p.A362S NM_001039547.2 NP_001034636.1 Q6ZS86 GLPK5_HUMAN glycerol kinase 5 (putative) 362 glycerol metabolic process ATP binding|glycerol kinase activity kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1) 10 AAACTTTTGGCCATTTTTTCA 0.333000 13 107 6.31663e-08 8.38389e-08 0.003163 1 0 SYT5 6861 broad.mit.edu 37 19 55687185 55687185 + Silent SNP C C T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr19:55687185C>T ENST00000354308.3 - 5 801 c.432G>A c.(430-432)tcG>tcA p.S144S SYT5_ENST00000590851.1_Silent_p.S141S|SYT5_ENST00000537500.1_Silent_p.S144S|CTD-2587H24.5_ENST00000591665.1_RNA NM_003180.2 NP_003171.2 O00445 SYT5_HUMAN synaptotagmin V 144 C2 1. 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) CATAGGGGTCCGAGGAGCCAC 0.622000 40 68 0 0 0.007835 0 0 IL20 50604 broad.mit.edu 37 1 207040805 207040805 + Splice_Site SNP T T C TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr1:207040805T>C ENST00000367098.1 + 5 816 c.e5+2 IL20_ENST00000367096.3_Splice_Site|IL20_ENST00000391930.2_Intron Q9NYY1 IL20_HUMAN interleukin 20 positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response extracellular space cytokine activity|interleukin-20 receptor binding endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1) 9 Breast(84;0.201) OV - Ovarian serous cystadenocarcinoma(81;0.00459) TTTGAAAAGGTATATGCGACT 0.428000 3 70 0 0 0.004672 0 0 RP11-114H24.2 0 broad.mit.edu 37 15 78217290 78217290 + RNA SNP G G A TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr15:78217290G>A ENST00000567226.1 - 0 212 CCCCAGGTGAGTGGCAACCAC 0.527000 6 102 0 0 0.001984 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6107489 6107489 + Missense_Mutation SNP C C T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr4:6107489C>T ENST00000409021.3 - 3 784 c.335G>A c.(334-336)cGg>cAg p.R112Q JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R112Q|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R112Q NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 112 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GGCCTGCAGCCGCTGCAGCTC 0.716000 6 23 0 0 0.001168 0 0 HRAS 3265 broad.mit.edu 37 11 533476 533476 + Missense_Mutation SNP C C T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr11:533476C>T ENST00000417302.1 - 4 614 c.427G>A c.(427-429)Gag>Aag p.E143K HRAS_ENST00000397596.2_Missense_Mutation_p.E143K|HRAS_ENST00000451590.1_Missense_Mutation_p.E143K|HRAS_ENST00000397594.1_Missense_Mutation_p.E143K|HRAS_ENST00000311189.7_Missense_Mutation_p.E143K NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 143 activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GCCGAGGTCTCGATGTAGGGG 0.677000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 24 127 0 0 0.003954 0 0 QTRT1 81890 broad.mit.edu 37 19 10812880 10812880 + Missense_Mutation SNP A A G TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr19:10812880A>G ENST00000250237.5 + 3 411 c.401A>G c.(400-402)aAt>aGt p.N134S QTRT1_ENST00000585885.1_3'UTR NM_031209.2 NP_112486.1 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 134 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) TACGACGGCAATGAGACCCTG 0.637000 25 58 0 0 0.007291 0 0 SHMT2 6472 broad.mit.edu 37 12 57626237 57626237 + Missense_Mutation SNP C C T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr12:57626237C>T ENST00000393827.4 + 5 564 c.308C>T c.(307-309)cCc>cTc p.P103L SHMT2_ENST00000557487.1_Intron|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000449049.3_Splice_Site_p.P178_splice|SHMT2_ENST00000414700.3_Splice_Site_p.P178_splice|SHMT2_ENST00000328923.3_Splice_Site_p.P199_splice|SHMT2_ENST00000553474.1_Splice_Site_p.P178_splice P34897 GLYM_HUMAN serine hydroxymethyltransferase 2 (mitochondrial) 199 microtubule cytoskeleton|mitochondrial nucleoid glycine hydroxymethyltransferase activity|methyltransferase activity breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) TCTGTCCAGCCCAAAACTGGC 0.587000 43 105 0 0 0.008740 0 0 OTOP3 347741 broad.mit.edu 37 17 72937760 72937760 + Missense_Mutation SNP G G A TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr17:72937760G>A ENST00000328801.4 + 2 346 c.346G>A c.(346-348)Gtc>Atc p.V116I NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 116 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) CAAGGTGGCCGTCACTCTGGG 0.607000 11 83 0 0 0.001855 0 0 ANKRD17 26057 broad.mit.edu 37 4 73968249 73968249 + Missense_Mutation SNP G G A rs143314189 byFrequency TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr4:73968249G>A ENST00000358602.4 - 25 4533 c.4417C>T c.(4417-4419)Cgg>Tgg p.R1473W ANKRD17_ENST00000330838.6_Missense_Mutation_p.R1222W|ANKRD17_ENST00000509867.2_Missense_Mutation_p.R1360W NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 1473 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GCCAGCCTCCGACTTTCTTCC 0.343000 15 26 0 0 0.004007 0 0 TTF2 8458 broad.mit.edu 37 1 117631499 117631499 + Missense_Mutation SNP G G A TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr1:117631499G>A ENST00000369466.3 + 13 2281 c.2237G>A c.(2236-2238)cGa>cAa p.R746Q NM_003594.3 NP_003585.3 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase II 746 Helicase ATP-binding. mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) AAGAATCCCCGAGTGCAGACT 0.473000 5 171 0 0 0.001168 0 0 C3 718 broad.mit.edu 37 19 6707522 6707522 + Missense_Mutation SNP G G A TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr19:6707522G>A ENST00000245907.6 - 16 2094 c.2002C>T c.(2002-2004)Cgc>Tgc p.R668C NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 668 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CGGCGTCGGCGGGCGGCTGGC 0.652000 7 114 0 0 0.001984 0 0 LOXL1 4016 broad.mit.edu 37 15 74219535 74219535 + Silent SNP G G C TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr15:74219535G>C ENST00000261921.7 + 1 737 c.411G>C c.(409-411)acG>acC p.T137T LOXL1-AS1_ENST00000566675.1_RNA|LOXL1-AS1_ENST00000565756.1_RNA|LOXL1-AS1_ENST00000565416.1_RNA|LOXL1-AS1_ENST00000564963.1_RNA|LOXL1-AS1_ENST00000564194.1_RNA|LOXL1-AS1_ENST00000568087.1_RNA|LOXL1-AS1_ENST00000562739.1_RNA|LOXL1-AS1_ENST00000567257.1_RNA|LOXL1-AS1_ENST00000562965.1_RNA NM_005576.2 NP_005567.2 Q08397 LOXL1_HUMAN lysyl oxidase-like 1 137 protein deamination extracellular space copper ion binding p.T137T(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 GGGACAGCACGGGCATGGCCC 0.751000 3 56 0 0 0.004672 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33535013 33535013 + Missense_Mutation SNP G G T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr5:33535013G>T ENST00000504830.1 - 23 4866 c.4531C>A c.(4531-4533)Caa>Aaa p.Q1511K ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q1426K NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1511 TSP type-1 8. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 CATAGACATTGGTCTTGGTCT 0.493000 HNSCC(64;0.19) 37 65 2.05212e-20 2.88086e-20 0.005524 1 0 SYT12 91683 broad.mit.edu 37 11 66812168 66812168 + Silent SNP C C T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr11:66812168C>T ENST00000393946.2 + 9 2104 c.942C>T c.(940-942)aaC>aaT p.N314N SYT12_ENST00000527043.1_Silent_p.N314N|SYT12_ENST00000525457.1_Silent_p.N314N Q8IV01 SYT12_HUMAN synaptotagmin XII 314 C2 2. cell junction|integral to membrane|synaptic vesicle membrane NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 20 TCTGGACCAACGACAAGACCA 0.657000 26 67 0 0 0.004656 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24874123 24874123 + Missense_Mutation SNP C C T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr10:24874123C>T ENST00000396432.2 - 26 5581 c.5095G>A c.(5095-5097)Gaa>Aaa p.E1699K NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1698 Interaction with CTNNA1. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 GTATCACATTCGATGAGTTTA 0.408000 5 84 0 0 0.000602 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117400554 117400554 + Missense_Mutation SNP G G T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr7:117400554G>T ENST00000160373.3 - 10 3198 c.3107C>A c.(3106-3108)aCt>aAt p.T1036N NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1036 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GTTATTGCAAGTCACGTCTTC 0.453000 51 78 4.10826e-27 5.88045e-27 0.003610 1 0 CDK5RAP3 80279 broad.mit.edu 37 17 46048774 46048774 + Splice_Site SNP G G T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr17:46048774G>T ENST00000536708.2 + 2 236 c.e2+1 CDK5RAP3_ENST00000338399.4_Splice_Site|RP11-6N17.9_ENST00000582262.1_RNA NM_001278197.1 NP_001265126.1 Q96JB5 CK5P3_HUMAN CDK5 regulatory subunit associated protein 3 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 18 AAGCTGCTCGGTAGGAGGGGG 0.672000 8 17 1.12685e-05 1.44316e-05 0.004482 1 0 FOCAD 54914 broad.mit.edu 37 9 20978420 20978420 + Missense_Mutation SNP G G C TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr9:20978420G>C ENST00000380249.1 + 39 4708 c.4344G>C c.(4342-4344)ttG>ttC p.L1448F FOCAD_ENST00000605086.1_Missense_Mutation_p.L884F|FOCAD_ENST00000338382.6_Missense_Mutation_p.L1448F NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 1448 integral to membrane binding TATTGGGCTTGTGGGTGACAC 0.458000 9 26 0 0 0.001855 0 0 CLYBL 171425 broad.mit.edu 37 13 100518573 100518573 + Silent SNP C C A TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr13:100518573C>A ENST00000376355.3 + 5 643 c.612C>A c.(610-612)ctC>ctA p.L204L CLYBL_ENST00000376354.1_Silent_p.L204L|CLYBL_ENST00000376360.1_Silent_p.L238L|CLYBL_ENST00000339105.4_Silent_p.L238L|CLYBL_ENST00000444838.2_Silent_p.L204L NM_206808.2 NP_996531.1 Q8N0X4 CLYBL_HUMAN citrate lyase beta like 238 cellular aromatic compound metabolic process citrate lyase complex|mitochondrion citrate (pro-3S)-lyase activity|metal ion binding NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2) 25 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CCTTTGGTCTCCAAGCCATAG 0.478000 28 62 2.61193e-14 3.59757e-14 0.009535 1 0 SIPA1L3 23094 broad.mit.edu 37 19 38643547 38643547 + Missense_Mutation SNP G G A TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr19:38643547G>A ENST00000222345.6 + 13 4110 c.3601G>A c.(3601-3603)Ggc>Agc p.G1201S NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 1201 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GACGTCCAGCGGCGACTCCTC 0.662000 6 119 0 0 0.003080 0 0 RHOC 389 broad.mit.edu 37 1 113245708 113245708 + Missense_Mutation SNP C C T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr1:113245708C>T ENST00000285735.2 - 4 1399 c.190G>A c.(190-192)Gaa>Aaa p.E64K RHOC_ENST00000369632.2_Missense_Mutation_p.E64K|RHOC_ENST00000369633.2_Missense_Mutation_p.E64K|RHOC_ENST00000369636.2_Missense_Mutation_p.E64K|RHOC_ENST00000369637.1_Missense_Mutation_p.E64K|RHOC_ENST00000369638.2_Missense_Mutation_p.E64K|RHOC_ENST00000369642.3_Missense_Mutation_p.E64K|RP11-426L16.10_ENST00000471038.2_5'UTR|RHOC_ENST00000339083.7_Missense_Mutation_p.E64K|RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.G227E P08134 RHOC_HUMAN ras homolog family member C 64 axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity|signal transducer activity endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 9 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCATAGTCTTCCTGCCCTGCT 0.612000 9 46 0 0 0.004482 0 0 TCF7L1 83439 broad.mit.edu 37 2 85533435 85533435 + Missense_Mutation SNP G G A TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr2:85533435G>A ENST00000282111.3 + 9 1371 c.1096G>A c.(1096-1098)Gct>Act p.A366T NM_031283.2 NP_112573.1 Q9HCS4 TF7L1_HUMAN transcription factor 7-like 1 (T-cell specific, HMG-box) 366 chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1) 18 CAAGGTGGTGGCTGAGTGCAC 0.542000 11 72 0 0 0.000978 0 0 DLC1 10395 broad.mit.edu 37 8 13162748 13162748 + Missense_Mutation SNP C C T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr8:13162748C>T ENST00000511869.1 - 5 1788 c.1378G>A c.(1378-1380)Gcc>Acc p.A460T DLC1_ENST00000316609.5_Intron|DLC1_ENST00000276297.4_Intron NM_024767.3 NP_079043.3 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 0 SAM. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 AATAGATTGGCGAGAAAACAG 0.274000 18 17 0 0 0.007413 0 0 FRYL 285527 broad.mit.edu 37 4 48611011 48611011 + Nonsense_Mutation SNP G G A TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr4:48611011G>A ENST00000358350.4 - 9 1169 c.565C>T c.(565-567)Caa>Taa p.Q189* FRYL_ENST00000503238.1_Nonsense_Mutation_p.Q189*|FRYL_ENST00000537810.1_Nonsense_Mutation_p.Q189*|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Nonsense_Mutation_p.Q189* NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 189 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 TACTTTGATTGGGCAAGAACC 0.323000 15 61 0 0 0.004007 0 0 LUZP4 51213 broad.mit.edu 37 X 114541233 114541233 + Missense_Mutation SNP C C T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chrX:114541233C>T ENST00000371920.3 + 4 813 c.806C>T c.(805-807)aCt>aTt p.T269I LUZP4_ENST00000451986.2_Missense_Mutation_p.T187I NM_016383.3 NP_057467.1 Q9P127 LUZP4_HUMAN leucine zipper protein 4 269 nucleus endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 14 CTCATAGCCACTCAGAGAGAT 0.468000 49 21 0 0 0.003610 0 0 B4GALT1 2683 broad.mit.edu 37 9 33135276 33135276 + Missense_Mutation SNP G G A TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr9:33135276G>A ENST00000379731.4 - 2 745 c.559C>T c.(559-561)Cgg>Tgg p.R187W B4GALT1_ENST00000535206.1_Missense_Mutation_p.R187W NM_001497.3 NP_001488.2 P15291 B4GT1_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 187 oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1) 14 LUSC - Lung squamous cell carcinoma(29;0.0084) GBM - Glioblastoma multiforme(74;0.121) N-Acetyl-D-glucosamine(DB00141) TGCTCCTGCCGGTTGCGGAAT 0.562000 19 63 0 0 0.007413 0 0 LHFPL3 375612 broad.mit.edu 37 7 104377297 104377297 + Frame_Shift_Del DEL A A - TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr7:104377297delA ENST00000535008.1 + 4 745 c.621delA c.(619-621)gcfs p.A207fs LHFPL3_ENST00000401970.2_Frame_Shift_Del_p.A193fs|LHFPL3_ENST00000424859.1_Frame_Shift_Del_p.A193fs|LHFPL3_ENST00000543266.1_Frame_Shift_Del_p.A207fs Q86UP9 LHPL3_HUMAN lipoma HMGIC fusion partner-like 3 193 integral to membrane kidney(1)|large_intestine(2)|lung(6) 9 CATTTCTAGCATTTGTGCTTG 0.448 9 12 --- --- --- ---