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 SYNE4 163183 broad.mit.edu 37 19 36498048 36498048 + Missense_Mutation SNP C C G TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr19:36498048C>G ENST00000324444.3 - 3 513 c.402G>C c.(400-402)caG>caC p.Q134H SYNE4_ENST00000340477.5_Intron NM_001039876.1 NP_001034965.1 spectrin repeat containing, nuclear envelope family member 4 CCATCCCACTCTGGGCCAATG 0.667000 3 10 0 0 1 0 0 SEPT12 124404 broad.mit.edu 37 16 4833737 4833737 + Silent SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr16:4833737C>T ENST00000268231.8 - 6 806 c.543G>A c.(541-543)caG>caA p.Q181Q SEPT12_ENST00000396693.5_Silent_p.Q135Q NM_144605.4 NP_653206.2 Q8IYM1 SEP12_HUMAN septin 12 181 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3) 23 GGCACAGCCGCTGCAGGAACT 0.652000 31 19 0 0 1 0 0 HTR5A 3361 broad.mit.edu 37 7 154863348 154863348 + Nonsense_Mutation SNP G G T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr7:154863348G>T ENST00000287907.2 + 1 1315 c.739G>T c.(739-741)Gag>Tag p.E247* NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 247 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) CGAAGCTGTGGAGGTGGGTAT 0.522000 27 25 1.88708e-17 2.15146e-17 1 1 0 MCM9 254394 broad.mit.edu 37 6 119252823 119252823 + Missense_Mutation SNP C C G TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr6:119252823C>G ENST00000316316.6 - 2 352 c.66G>C c.(64-66)aaG>aaC p.K22N MCM9_ENST00000316068.3_Missense_Mutation_p.K22N NM_017696.2 NP_060166.2 Q9NXL9 MCM9_HUMAN minichromosome maintenance complex component 9 22 DNA replication ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194) GAATATCATTCTTATGGTATT 0.373000 19 54 0 0 1 0 0 C17orf98 388381 broad.mit.edu 37 17 36993426 36993426 + Missense_Mutation SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr17:36993426C>T ENST00000398575.4 - 2 340 c.275G>A c.(274-276)aGa>aAa p.R92K NM_001080465.2 NP_001073934.1 A8MV24 CQ098_HUMAN chromosome 17 open reading frame 98 92 p.R92I(1) endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3) 14 GTTGAGGTATCTTTGTCCTTG 0.522000 83 39 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25463917 25463917 + RNA SNP C C A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr15:25463917C>A ENST00000424208.1 + 0 2994 SNHG14_ENST00000453082.2_RNA NR_003305.1 TATTTTGGACCTGGGACCTGG 0.577000 53 39 4.0306e-16 4.57318e-16 1 1 0 FLNC 2318 broad.mit.edu 37 7 128478368 128478368 + Silent SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr7:128478368G>A ENST00000325888.8 + 7 1356 c.1095G>A c.(1093-1095)gaG>gaA p.E365E FLNC_ENST00000346177.6_Silent_p.E365E NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 365 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GTCCCTTTGAGGTGAACGTGG 0.582000 29 71 0 0 1 0 0 ZNF547 284306 broad.mit.edu 37 19 57883219 57883219 + Missense_Mutation SNP C C G TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr19:57883219C>G ENST00000282282.3 + 3 244 c.94C>G c.(94-96)Cag>Gag p.Q32E AC003002.4_ENST00000597658.1_Missense_Mutation_p.Q32E NM_173631.2 NP_775902.2 Q8IVP9 ZN547_HUMAN zinc finger protein 547 32 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 12 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CGATGAGGCTCAGAGATTGCT 0.512000 69 336 0 0 1 0 0 QRICH2 84074 broad.mit.edu 37 17 74288358 74288358 + Missense_Mutation SNP A A T rs113162124 byFrequency TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr17:74288358A>T ENST00000262765.5 - 4 2131 c.1952T>A c.(1951-1953)gTt>gAt p.V651D NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 651 Gln-rich. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 accacgctgaactgcaccagg 0.542000 5 155 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 47918946 47918946 + Silent SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr3:47918946C>T ENST00000426837.2 - 11 5589 c.5502G>A c.(5500-5502)ccG>ccA p.P1834P MAP4_ENST00000462206.1_5'UTR|MAP4_ENST00000441748.2_5'UTR|MAP4_ENST00000264724.11_Silent_p.P424P|MAP4_ENST00000395734.3_Silent_p.P689P|MAP4_ENST00000360240.6_Silent_p.P689P|MAP4_ENST00000420772.2_Silent_p.P512P|MAP4_ENST00000383737.4_Silent_p.P417P P27816 MAP4_HUMAN microtubule-associated protein 4 689 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) GCTCCTTGTTCGGTGGGGTGG 0.493000 25 19 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34003481 34003481 + Silent SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr6:34003481G>A ENST00000374181.3 - 8 2575 c.2406C>T c.(2404-2406)atC>atT p.I802I GRM4_ENST00000374177.3_Silent_p.I686I|GRM4_ENST00000535756.1_Silent_p.I669I|GRM4_ENST00000538487.1_Silent_p.I802I|GRM4_ENST00000544773.1_Silent_p.I633I|GRM4_ENST00000545715.1_Silent_p.I494I|GRM4_ENST00000455714.2_Silent_p.I662I NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 802 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) AGAAGATGGGGATGAAGGCCA 0.622000 7 26 0 0 1 0 0 GSPT1 2935 broad.mit.edu 37 16 11981428 11981428 + Splice_Site SNP A A C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr16:11981428A>C ENST00000434724.2 - 7 1155 c.957_splice c.e7+1 p.L319_splice GSPT1_ENST00000563468.1_Splice_Site_p.L181_splice|GSPT1_ENST00000439887.2_Splice_Site_p.L318_splice|GSPT1_ENST00000420576.2_Splice_Site_p.L181_splice|RP11-166B2.8_ENST00000574364.1_RNA NM_001130006.1|NM_002094.3 NP_001123478.1|NP_002085.2 P15170 ERF3A_HUMAN G1 to S phase transition 1 181 G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation intracellular GTP binding|GTPase activity|protein binding|translation release factor activity breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 14 CTTTCTTACCAGCACAGCCAA 0.393000 20 147 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43922358 43922358 + Missense_Mutation SNP T T C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr2:43922358T>C ENST00000282406.4 + 6 607 c.497T>C c.(496-498)cTa>cCa p.L166P NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 166 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CAGTCAAAACTACAAGGTACA 0.313000 75 6 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137294343 137294343 + Missense_Mutation SNP C C A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr7:137294343C>A ENST00000453654.1 - 9 645 c.106G>T c.(106-108)Gct>Tct p.A36S DGKI_ENST00000424189.2_Missense_Mutation_p.A336S|DGKI_ENST00000288490.5_Missense_Mutation_p.A336S|DGKI_ENST00000446122.1_Missense_Mutation_p.A336S O75912 DGKI_HUMAN diacylglycerol kinase, iota 336 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 CGATTTGAAGCCTTCAGGGAG 0.463000 8 46 0.000673444 0.000691012 1 1 0 PCDHA12 56137 broad.mit.edu 37 5 140256763 140256763 + Missense_Mutation SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr5:140256763C>T ENST00000398631.2 + 1 1706 c.1706C>T c.(1705-1707)cCg>cTg p.P569L PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGCGACTCCGGCTGGCAGC 0.716000 104 71 0 0 1 0 0 PRKAG3 53632 broad.mit.edu 37 2 219689278 219689278 + Missense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr2:219689278G>A ENST00000439262.2 - 11 1210 c.1115C>T c.(1114-1116)tCc>tTc p.S372F PRKAG3_ENST00000392098.3_3'UTR|PRKAG3_ENST00000529249.1_Missense_Mutation_p.S397F|PRKAG3_ENST00000545803.1_Missense_Mutation_p.S213F NM_017431.2 NP_059127.2 Q9UGI9 AAKG3_HUMAN protein kinase, AMP-activated, gamma 3 non-catalytic subunit 397 CBS 3. cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ATCAAAGCGGGAATAGAGGCC 0.627000 41 22 0 0 1 0 0 ACAD9 28976 broad.mit.edu 37 3 128628911 128628911 + Silent SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr3:128628911C>T ENST00000308982.7 + 16 1692 c.1611C>T c.(1609-1611)ctC>ctT p.L537L ACAD9_ENST00000511526.1_3'UTR|RP11-723O4.6_ENST00000508239.1_3'UTR|KIAA1257_ENST00000511438.1_3'UTR NM_014049.4 NP_054768.2 Q9H845 ACAD9_HUMAN acyl-CoA dehydrogenase family, member 9 537 mitochondrion acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 30 CCAACATCCTCATCAACCTGT 0.632000 9 15 0 0 1 0 0 RIOK3 8780 broad.mit.edu 37 18 21043044 21043044 + Splice_Site SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr18:21043044G>A ENST00000339486.3 + 2 796 c.e2+1 RIOK3_ENST00000577501.1_Splice_Site|RIOK3_ENST00000581585.1_Splice_Site NM_003831.3 NP_003822.2 O14730 RIOK3_HUMAN RIO kinase 3 chromosome segregation ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2) 10 all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127) CTGAAGTTGCGTAAGTAAAAT 0.363000 20 118 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103074410 103074410 + Missense_Mutation SNP A A G TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr11:103074410A>G ENST00000375735.2 + 51 8360 c.8216A>G c.(8215-8217)tAt>tGt p.Y2739C DYNC2H1_ENST00000398093.3_Missense_Mutation_p.Y2739C|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2739 AAA 4 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) CCTGGACTCTATACTCTTGAA 0.308000 12 27 0 0 1 0 0 MSR1 4481 broad.mit.edu 37 8 16021623 16021623 + Silent SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr8:16021623C>T ENST00000350896.3 - 5 965 c.768G>A c.(766-768)ctG>ctA p.L256L MSR1_ENST00000262101.5_Silent_p.L256L|MSR1_ENST00000355282.2_Silent_p.L256L|MSR1_ENST00000445506.2_Silent_p.L274L|MSR1_ENST00000536385.1_Silent_p.L30L|MSR1_ENST00000381998.4_Silent_p.L256L NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 256 cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CCCAATCTTTCAGTCTGAGAT 0.313000 8 32 0 0 1 0 0 ZNF44 51710 broad.mit.edu 37 19 12384756 12384756 + Missense_Mutation SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr19:12384756C>T ENST00000356109.5 - 5 576 c.458G>A c.(457-459)aGc>aAc p.S153N ZNF44_ENST00000355684.5_Missense_Mutation_p.S105N NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 153 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) ATTCACACTGCTTCCACATGC 0.428000 26 94 0 0 1 0 0 WWC1 23286 broad.mit.edu 37 5 167858265 167858265 + Missense_Mutation SNP G G A rs148388652 TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr5:167858265G>A ENST00000265293.4 + 15 2598 c.2096G>A c.(2095-2097)cGc>cAc p.R699H WWC1_ENST00000521089.1_Missense_Mutation_p.R699H NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 699 C2. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) AGGAATATCCGCGTGGCTGTC 0.527000 18 50 0 0 1 0 0 CATSPERD 257062 broad.mit.edu 37 19 5754141 5754141 + Splice_Site SNP A A G TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr19:5754141A>G ENST00000381624.3 + 13 1225 c.e13-1 CATSPERD_ENST00000381614.2_Splice_Site|CATSPERD_ENST00000309164.7_Splice_Site NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta integral to membrane CTTTTTAACTAGATAGAGTTT 0.473000 24 99 0 0 1 0 0 GRXCR2 643226 broad.mit.edu 37 5 145239439 145239439 + Missense_Mutation SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr5:145239439C>T ENST00000377976.1 - 3 603 c.604G>A c.(604-606)Ggg>Agg p.G202R NM_001080516.1 NP_001073985.1 A6NFK2 GRCR2_HUMAN glutaredoxin, cysteine rich 2 202 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 CTGCCCGACCCTCGGCAGTGA 0.557000 7 29 0 0 1 0 0 ZNF93 81931 broad.mit.edu 37 19 20045185 20045185 + Missense_Mutation SNP T T A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr19:20045185T>A ENST00000343769.5 + 4 1449 c.1421T>A c.(1420-1422)aTt>aAt p.I474N AC007204.2_ENST00000592245.1_lincRNA NM_031218.3 NP_112495.2 P35789 ZNF93_HUMAN zinc finger protein 93 474 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.I474N(1) endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 24 CATAAGAAAATTCATACTGGA 0.363000 4 139 0 0 1 0 0 AK9 221264 broad.mit.edu 37 6 109814728 109814728 + Silent SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr6:109814728C>T ENST00000424296.2 - 41 5656 c.5580G>A c.(5578-5580)aaG>aaA p.K1860K RP5-919F19.5_ENST00000423747.1_RNA NM_001145128.2 NP_001138600.2 adenylate kinase 9 GCTCCATCTTCTTCTTATACT 0.368000 20 44 0 0 1 0 0 EFNB1 1947 broad.mit.edu 37 X 68060417 68060417 + Missense_Mutation SNP A A T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chrX:68060417A>T ENST00000204961.4 + 5 1741 c.961A>T c.(961-963)Agt>Tgt p.S321C NM_004429.4 NP_004420.1 P98172 EFNB1_HUMAN ephrin-B1 321 cell adhesion|cell-cell signaling integral to plasma membrane|soluble fraction|synapse ephrin receptor binding breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 22 TGAGAAGGTGAGTGGGGACTA 0.612000 5 13 0 0 1 0 0 IGHG1 3500 broad.mit.edu 37 14 106209287 106209287 + RNA SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr14:106209287C>T ENST00000390548.2 - 0 121 GCCTGAGTTCCACGACACCGT 0.662000 24 8 0 0 1 0 0 OR2G6 391211 broad.mit.edu 37 1 248685640 248685640 + Silent SNP T T C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr1:248685640T>C ENST00000343414.4 + 1 725 c.693T>C c.(691-693)gcT>gcC p.A231A NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 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) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TAAAATCAGCTGCGGGCCGCC 0.458000 4 137 0 0 1 0 0 DNASE1L3 1776 broad.mit.edu 37 3 58179051 58179051 + Missense_Mutation SNP G G C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr3:58179051G>C ENST00000483681.1 - 9 1401 c.820C>G c.(820-822)Ctt>Gtt p.L274V DNASE1L3_ENST00000394549.2_Intron|DNASE1L3_ENST00000318316.3_Intron|DNASE1L3_ENST00000486455.1_Intron Q13609 DNSL3_HUMAN deoxyribonuclease I-like 3 0 apoptosis|DNA catabolic process nucleus calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters breast(2)|large_intestine(4)|lung(6) 12 BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202) GGCATAGAAAGACAAGATGGC 0.413000 14 31 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103230261 103230261 + Silent SNP A A G TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr7:103230261A>G ENST00000428762.1 - 28 4086 c.3927T>C c.(3925-3927)tgT>tgC p.C1309C RELN_ENST00000343529.5_Silent_p.C1309C|RELN_ENST00000424685.2_Silent_p.C1309C NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1309 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ATTGATTGGCACAACCTATGT 0.428000 72 20 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039314 11039314 + RNA SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr21:11039314C>T ENST00000470054.1 - 0 889 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGTTTTCTGTCACTTCCATTT 0.368000 9 512 0 0 1 0 0 TM9SF2 9375 broad.mit.edu 37 13 100153989 100153989 + Silent SNP C C A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr13:100153989C>A ENST00000376387.4 + 1 319 c.129C>A c.(127-129)ccC>ccA p.P43P NM_004800.1 NP_004791.1 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 43 transport endosome membrane|integral to plasma membrane p.P43P(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2) 17 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) GCCTGGCGCCCGTCAACTTCT 0.657000 19 57 8.34094e-07 8.94755e-07 1 1 0 TRIM42 287015 broad.mit.edu 37 3 140409995 140409995 + Silent SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr3:140409995C>T ENST00000286349.3 + 4 2237 c.2046C>T c.(2044-2046)atC>atT p.I682I NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 682 Fibronectin type-III. intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TTAGAGCCATCAATGATAATG 0.433000 29 127 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5782304 5782304 + Missense_Mutation SNP C C T rs56856085 by1000genomes TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr10:5782304C>T ENST00000328090.5 + 13 2796 c.2171C>T c.(2170-2172)tCt>tTt p.S724F RP11-336A10.2_ENST00000411512.2_RNA NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 724 S -> Y (in dbSNP:rs56856085). CGACCACCGTCTGCCCGTGTG 0.488000 27 52 0 0 1 0 0 ARFGAP1 55738 broad.mit.edu 37 20 61910339 61910339 + Silent SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr20:61910339C>T ENST00000370275.4 + 7 711 c.619C>T c.(619-621)Ctg>Ttg p.L207L ARFGAP1_ENST00000370283.4_Silent_p.L207L|ARFGAP1_ENST00000353546.3_Silent_p.L207L|ARFGAP1_ENST00000519273.2_Silent_p.L94L|ARFGAP1_ENST00000519604.1_Silent_p.L154L|ARFGAP1_ENST00000547204.1_Silent_p.L133L Q8N6T3 ARFG1_HUMAN ADP-ribosylation factor GTPase activating protein 1 207 COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER cytosol|Golgi-associated vesicle membrane ARF GTPase activator activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1) 13 all_cancers(38;1.59e-09) CATGTCCTCCCTGTACTCGGT 0.602000 14 49 0 0 1 0 0 FAM92A1P2 403315 broad.mit.edu 37 4 183960166 183960166 + RNA SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr4:183960166C>T ENST00000502308.1 + 0 1349 NR_003612.1 CACCAGAGATCATGTCAGCTA 0.388000 3 19 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228463619 228463619 + Missense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr1:228463619G>A ENST00000570156.2 + 25 7311 c.7237G>A c.(7237-7239)Gag>Aag p.E2413K RP5-1139B12.3_ENST00000602947.1_RNA|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000284548.11_Missense_Mutation_p.E2038K|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.E885K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E2038K NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1401 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GATCCACGCCGAGGGCGCCCG 0.667000 9 16 0 0 1 0 0 DDX18 8886 broad.mit.edu 37 2 118583876 118583876 + Missense_Mutation SNP G G C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr2:118583876G>C ENST00000263239.2 + 11 1681 c.1553G>C c.(1552-1554)aGa>aCa p.R518T NM_006773.3 NP_006764.3 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 518 Helicase C-terminal. ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AGAACAGCCAGAGGCCTAAAT 0.453000 25 56 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144930693 144930693 + Missense_Mutation SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr1:144930693C>T ENST00000529945.1 - 1 1455 c.1016G>A c.(1015-1017)aGg>aAg p.R339K PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R339K|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000530740.1_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TTTCAAAGACCTGTTAAGGAA 0.522000 T PDGFRB MPD 106 168 0 0 1 0 0 OR4N5 390437 broad.mit.edu 37 14 20612098 20612098 + Missense_Mutation SNP A A C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr14:20612098A>C ENST00000333629.1 + 1 204 c.204A>C c.(202-204)ttA>ttC p.L68F NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) ACTTGGCCTTACTGGATGCAT 0.478000 5 245 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44890538 44890538 + Missense_Mutation SNP T T G TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr15:44890538T>G ENST00000261866.7 - 23 3942 c.3926A>C c.(3925-3927)aAg>aCg p.K1309T SPG11_ENST00000558319.1_Missense_Mutation_p.K1309T|SPG11_ENST00000427534.2_Missense_Mutation_p.K1309T|SPG11_ENST00000535302.2_Missense_Mutation_p.K1309T NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1309 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TGTGGTTGTCTTTTCACCATC 0.373000 17 57 0 0 1 0 0 LYPLAL1 127018 broad.mit.edu 37 1 219384842 219384842 + Silent SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr1:219384842G>A ENST00000366928.5 + 5 533 c.486G>A c.(484-486)caG>caA p.Q162Q LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Silent_p.Q146Q NM_138794.3 NP_620149.1 Q5VWZ2 LYPL1_HUMAN lysophospholipase-like 1 162 cytoplasm lysophospholipase activity large_intestine(1)|lung(5) 6 GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116) AGGCTCTTCAGAAGAGTAATG 0.333000 13 99 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7724457 7724457 + Missense_Mutation SNP T T C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr1:7724457T>C ENST00000303635.7 + 9 2057 c.1850T>C c.(1849-1851)tTc>tCc p.F617S CAMTA1_ENST00000439411.2_Missense_Mutation_p.F617S NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 617 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CCGAGCTTCTTCCTGCAGGAC 0.627000 T WWTR1 epitheliod hemangioendothelioma 37 138 0 0 1 0 0 NAB1 4664 broad.mit.edu 37 2 191524148 191524148 + Silent SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr2:191524148C>T ENST00000337386.5 + 4 707 c.246C>T c.(244-246)ttC>ttT p.F82F NAB1_ENST00000357215.5_Silent_p.F82F|NAB1_ENST00000409581.1_Silent_p.F82F|NAB1_ENST00000409641.1_Silent_p.F82F NM_005966.3 NP_005957.2 Q13506 NAB1_HUMAN NGFI-A binding protein 1 (EGR1 binding protein 1) 82 NCD1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109) CTGGGCTTTTCAATCAGCCAC 0.478000 83 68 0 0 1 0 0 LILRA6 79168 broad.mit.edu 37 19 54746124 54746124 + Missense_Mutation SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr19:54746124C>T ENST00000440558.2 - 3 181 c.133G>A c.(133-135)Gtg>Atg p.V45M LILRA6_ENST00000396365.2_Missense_Mutation_p.V45M|LILRA6_ENST00000270464.5_Missense_Mutation_p.V45M|LILRA6_ENST00000391735.3_Missense_Mutation_p.V45M|LILRA6_ENST00000245621.5_Missense_Mutation_p.V45M|LILRB3_ENST00000407860.2_Missense_Mutation_p.V45M|LILRA6_ENST00000419410.2_Missense_Mutation_p.V45M leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CAGATGGTCACGGGGCTCCCC 0.597000 73 236 0 0 1 0 0 PLCB3 5331 broad.mit.edu 37 11 64031183 64031183 + Missense_Mutation SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr11:64031183C>T ENST00000540288.1 + 21 2579 c.2476C>T c.(2476-2478)Cgg>Tgg p.R826W PLCB3_ENST00000279230.6_Missense_Mutation_p.R826W|PLCB3_ENST00000325234.5_Missense_Mutation_p.R759W NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 826 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 CGTCTGCCTGCGGAACGAGGC 0.662000 18 109 0 0 1 0 0 KARS 3735 broad.mit.edu 37 16 75664388 75664388 + Missense_Mutation SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr16:75664388C>T ENST00000319410.5 - 12 1562 c.1441G>A c.(1441-1443)Gaa>Aaa p.E481K KARS_ENST00000302445.3_Missense_Mutation_p.E453K|KARS_ENST00000568378.1_Intron NM_001130089.1 NP_001123561.1 Q15046 SYK_HUMAN lysyl-tRNA synthetase 453 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 18 L-Lysine(DB00123) CAAGTCACTTCCAGGAACTCC 0.438000 11 27 0 0 1 0 0 PPAN 56342 broad.mit.edu 37 19 10224864 10224864 + Missense_Mutation SNP T T C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr19:10224864T>C ENST00000556468.1 + 13 1862 c.1835T>C c.(1834-1836)cTg>cCg p.L612P PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.L612P|P2RY11_ENST00000321826.4_Missense_Mutation_p.L192P|PPAN-P2RY11_ENST00000428358.1_3'UTR peter pan homolog (Drosophila) endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) ATCAAGTGTCTGGGGACAGCA 0.692000 15 45 0 0 1 0 0 AGO1 26523 broad.mit.edu 37 1 36385120 36385120 + Missense_Mutation SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr1:36385120C>T ENST00000373204.4 + 19 2699 c.2486C>T c.(2485-2487)tCg>tTg p.S829L AGO1_ENST00000373206.1_Missense_Mutation_p.S754L NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 AGCCACATATCGGGGCAGAGC 0.577000 5 18 0 0 1 0 0 FGF12 2257 broad.mit.edu 37 3 192053223 192053223 + Missense_Mutation SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr3:192053223C>T ENST00000454309.2 - 3 1166 c.341G>A c.(340-342)cGt>cAt p.R114H FGF12_ENST00000445105.1_Missense_Mutation_p.R52H|FGF12_ENST00000430714.1_Missense_Mutation_p.R15H|FGF12_ENST00000264730.3_Missense_Mutation_p.R52H|FGF12_ENST00000450716.1_Missense_Mutation_p.R52H NM_021032.4 NP_066360.1 P61328 FGF12_HUMAN fibroblast growth factor 12 114 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) GGCCACTACACGCAGGCCCAC 0.443000 57 111 0 0 1 0 0 LHX4 89884 broad.mit.edu 37 1 180243494 180243494 + Missense_Mutation SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr1:180243494C>T ENST00000263726.2 + 6 1197 c.953C>T c.(952-954)tCg>tTg p.S318L RP5-1180C10.2_ENST00000440959.2_RNA|RP5-1180C10.2_ENST00000415414.1_RNA NM_033343.3 NP_203129.1 Q969G2 LHX4_HUMAN LIM homeobox 4 318 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1) 16 TCCTCCATATCGTCCCTGCCA 0.547000 5 228 0 0 1 0 0 YIPF7 285525 broad.mit.edu 37 4 44652088 44652088 + Missense_Mutation SNP A A C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr4:44652088A>C ENST00000332990.5 - 2 118 c.102T>G c.(100-102)gaT>gaG p.D34E YIPF7_ENST00000508947.1_5'UTR NM_182592.2 NP_872398.2 Q8N8F6 YIPF7_HUMAN Yip1 domain family, member 7 34 endoplasmic reticulum membrane|integral to membrane breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1) 12 ATTGGTAAAAATCAGAGTCAA 0.294000 7 2 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178927980 178927980 + Missense_Mutation SNP T T C rs121913272 TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr3:178927980T>C ENST00000263967.3 + 8 1415 c.1258T>C c.(1258-1260)Tgt>Cgt p.C420R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 420 C2 PI3K-type. C -> R (in cancer; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes). 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 p.C420R(40) 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) TAAGGAACACTGTCCATTGGC 0.328000 C420R(CCK81_LARGE_INTESTINE)|C420R(EFM192A_BREAST)|C420R(HEC151_ENDOMETRIUM)|C420R(OVISE_OVARY) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 35 98 0 0 1 0 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 4 116 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71510131 71510131 + Silent SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr4:71510131C>T ENST00000396073.3 + 9 3269 c.2988C>T c.(2986-2988)aaC>aaT p.N996N ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 996 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) ATGGGAACAACATTCTGGAAC 0.423000 35 129 0 0 1 0 0 CD5L 922 broad.mit.edu 37 1 157805671 157805671 + Missense_Mutation SNP T T G TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr1:157805671T>G ENST00000368174.4 - 3 426 c.330A>C c.(328-330)gaA>gaC p.E110D NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 110 SRCR 1. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) AATCATAAACTTCTTCTTGCT 0.498000 41 174 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56425108 56425108 + Silent SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr6:56425108C>T ENST00000370754.5 - 58 14330 c.14331G>A c.(14329-14331)caG>caA p.Q4777Q DST_ENST00000361203.3_Silent_p.Q4597Q|DST_ENST00000421834.2_Silent_p.Q2511Q|DST_ENST00000370769.4_Silent_p.Q4599Q|DST_ENST00000244364.6_Silent_p.Q2185Q|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Silent_p.Q2511Q|DST_ENST00000446842.2_Silent_p.Q4273Q Q03001 DYST_HUMAN dystonin 4597 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CTGTCAACATCTGTTTCCATC 0.378000 6 23 0 0 1 0 0 CPED1 79974 broad.mit.edu 37 7 120767204 120767204 + Missense_Mutation SNP G G C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr7:120767204G>C ENST00000310396.5 + 10 1662 c.1195G>C c.(1195-1197)Gaa>Caa p.E399Q CPED1_ENST00000450913.2_Missense_Mutation_p.E399Q|CPED1_ENST00000423795.1_Missense_Mutation_p.E179Q NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 p.E399*(1) CCAAAATACAGAAGAATTCCT 0.294000 30 70 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20296121 20296121 + Missense_Mutation SNP A A C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr14:20296121A>C ENST00000568211.1 + 1 514 c.514A>C c.(514-516)Aac>Cac p.N172H OR4N2_ENST00000315947.1_Missense_Mutation_p.N172H Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 172 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) TTGTGGCCCAAACCAGCTGGA 0.522000 54 260 0 0 1 0 0 CPVL 54504 broad.mit.edu 37 7 29035451 29035451 + Silent SNP C C G TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr7:29035451C>G ENST00000409850.1 - 17 2014 c.1368G>C c.(1366-1368)ctG>ctC p.L456L CPVL_ENST00000396276.3_Silent_p.L456L|CPVL_ENST00000265394.5_Silent_p.L456L Q9H3G5 CPVL_HUMAN carboxypeptidase, vitellogenic-like 456 proteolysis protein binding|serine-type carboxypeptidase activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1) 28 CAAAAGCTCTCAGAGGCTGGT 0.338000 23 68 0 0 1 0 0 GRIN2D 2906 broad.mit.edu 37 19 48945146 48945146 + Silent SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr19:48945146C>T ENST00000263269.3 + 11 2461 c.2373C>T c.(2371-2373)atC>atT p.I791I NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 791 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) GCTATGGCATCGCCCTGCACA 0.632000 9 64 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89431583 89431583 + RNA SNP T T C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr11:89431583T>C ENST00000532352.1 + 0 1865 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 AACAGGCATGTCATCTATGCT 0.413000 68 46 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57327859 57327859 + Missense_Mutation SNP T T C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr19:57327859T>C ENST00000326441.9 - 10 2314 c.1951A>G c.(1951-1953)Aga>Gga p.R651G PEG3_ENST00000598410.1_Missense_Mutation_p.R527G|PEG3_ENST00000593695.1_Missense_Mutation_p.R525G|PEG3_ENST00000423103.2_Missense_Mutation_p.R651G|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 651 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GGGTTCCCTCTAGTATGGATT 0.398000 88 75 0 0 1 0 0 BIRC2 329 broad.mit.edu 37 11 102220775 102220775 + Missense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr11:102220775G>A ENST00000227758.2 + 2 1589 c.190G>A c.(190-192)Gaa>Aaa p.E64K BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Missense_Mutation_p.E43K|BIRC2_ENST00000530675.1_Missense_Mutation_p.E15K NM_001166.4|NM_001256163.1 NP_001157.1|NP_001243092.1 Q13490 BIRC2_HUMAN baculoviral IAP repeat containing 2 64 cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination CD40 receptor complex|cytosol|internal side of plasma membrane protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0144) GCCTGTCTCAGAAAGGAGTCT 0.428000 41 78 0 0 1 0 0 EDNRB 1910 broad.mit.edu 37 13 78472336 78472336 + Nonstop_Mutation SNP C C G TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr13:78472336C>G ENST00000377211.4 - 8 1750 c.1598G>C c.(1597-1599)tGa>tCa p.*533S EDNRB_ENST00000334286.5_Nonstop_Mutation_p.*443S|EDNRB_ENST00000446573.1_Intron NM_001201397.1 NP_001188326.1 P24530 EDNRB_HUMAN endothelin receptor type B 0 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3) 42 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) GTTCTTCTTTCAAGATGAGCT 0.323000 25 28 0 0 1 0 0 AGMAT 79814 broad.mit.edu 37 1 15909714 15909714 + Missense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr1:15909714G>A ENST00000375826.3 - 2 591 c.449C>T c.(448-450)gCa>gTa p.A150V DNAJC16_ENST00000483270.1_Intron NM_024758.4 NP_079034.3 Q9BSE5 SPEB_HUMAN agmatine ureohydrolase (agmatinase) 150 putrescine biosynthetic process|spermidine biosynthetic process mitochondrion agmatinase activity|metal ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1) 12 Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649) ACAGCCAGCTGCTACAATTTT 0.498000 21 44 0 0 1 0 0 ZMYM4 9202 broad.mit.edu 37 1 35847020 35847020 + Missense_Mutation SNP C C A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr1:35847020C>A ENST00000314607.6 + 8 1422 c.1342C>A c.(1342-1344)Cag>Aag p.Q448K ZMYM4_ENST00000373297.2_Missense_Mutation_p.Q448K NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 448 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CAGCATGTGTCAGAAGAATGC 0.348000 15 33 6.72482e-11 7.41616e-11 1 1 0 OR10W1 81341 broad.mit.edu 37 11 58034866 58034866 + Silent SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr11:58034866G>A ENST00000395079.2 - 1 866 c.465C>T c.(463-465)ttC>ttT p.F155F NM_207374.3 NP_997257.2 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, member 1 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1) 26 Breast(21;0.0589) ATGGCAGAGAGAAGATGAAGG 0.488000 5 17 0 0 1 0 0 PSPC1 55269 broad.mit.edu 37 13 20279929 20279929 + Missense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr13:20279929G>A ENST00000338910.4 - 8 1418 c.1259C>T c.(1258-1260)cCa>cTa p.P420L NM_001042414.2 NP_001035879.1 Q8WXF1 PSPC1_HUMAN paraspeckle component 1 420 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) ACCCATCATTGGAGGAGGACC 0.458000 7 86 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140401898 140401898 + Missense_Mutation SNP C C A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr3:140401898C>A ENST00000286349.3 + 2 1127 c.936C>A c.(934-936)ttC>ttA p.F312L NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 312 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TCTGCACCTTCTGCAAGTTCT 0.562000 6 53 3.59834e-05 3.77425e-05 1 1 0 LRRK2 120892 broad.mit.edu 37 12 40758785 40758785 + Silent SNP T T A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr12:40758785T>A ENST00000298910.7 + 49 7381 c.7323T>A c.(7321-7323)acT>acA p.T2441T NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 2441 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) ATCTTTCAACTCGTCGACTTA 0.398000 OREG0003828 type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 11 50 0 0 1 0 0 UBQLNL 143630 broad.mit.edu 37 11 5537243 5537243 + Missense_Mutation SNP T T G TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr11:5537243T>G ENST00000380184.1 - 1 692 c.429A>C c.(427-429)caA>caC p.Q143H HBG2_ENST00000380259.2_Intron NM_145053.4 NP_659490.4 Q8IYU4 UBQLN_HUMAN ubiquilin-like 143 Q -> K (in dbSNP:rs3802978). endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) CCACTGGAGCTTGATTCATAC 0.542000 25 59 0 0 1 0 0 TFIP11 24144 broad.mit.edu 37 22 26902830 26902830 + Missense_Mutation SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr22:26902830C>T ENST00000407690.1 - 5 557 c.274G>A c.(274-276)Gag>Aag p.E92K TFIP11_ENST00000407431.1_Missense_Mutation_p.E92K|TFIP11_ENST00000407148.1_Missense_Mutation_p.E92K|TFIP11_ENST00000405938.1_Missense_Mutation_p.E92K NM_012143.2 NP_036275.1 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 92 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 AACTCTGCCTCCTCCGCTGCC 0.517000 73 42 0 0 1 0 0 ALDOA 226 broad.mit.edu 37 16 30081416 30081416 + Silent SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr16:30081416C>T ENST00000569798.1 + 8 1242 c.1065C>T c.(1063-1065)caC>caT p.H355H ALDOA_ENST00000566897.1_Intron|ALDOA_ENST00000564546.1_Intron|ALDOA_ENST00000569545.1_Intron|ALDOA_ENST00000412304.2_Intron|ALDOA_ENST00000395240.3_Intron|ALDOA_ENST00000395248.1_Intron|ALDOA_ENST00000564595.2_Intron|ALDOA_ENST00000338110.5_Intron|ALDOA_ENST00000563060.2_Intron P04075 ALDOA_HUMAN aldolase A, fructose-bisphosphate 0 actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 17 GCCCTTCTCACTCCACCCCTC 0.622000 16 59 0 0 1 0 0 FMO4 2329 broad.mit.edu 37 1 171302029 171302029 + Missense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr1:171302029G>A ENST00000367749.3 + 7 1139 c.809G>A c.(808-810)gGa>gAa p.G270E FMO4_ENST00000462992.1_3'UTR NM_002022.1 NP_002013.1 P31512 FMO4_HUMAN flavin containing monooxygenase 4 270 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) GAGGATTATGGATTAAGTATT 0.264000 26 36 0 0 1 0 0 ABCF1 23 broad.mit.edu 37 6 30547717 30547717 + Missense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr6:30547717G>A ENST00000326195.8 + 7 611 c.499G>A c.(499-501)Gag>Aag p.E167K ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.E167K NM_001025091.1 NP_001020262.1 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F (GCN20), member 1 167 Glu-rich. inflammatory response|translational initiation nuclear envelope|nucleoplasm|polysomal ribosome ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2) 21 GGCCGTATCTGAGGAACAGCA 0.453000 27 75 0 0 1 0 0 ERCC6L2 375748 broad.mit.edu 37 9 98775374 98775374 + Silent SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr9:98775374G>A ENST00000407474.3 + 4 1998 c.1485G>A c.(1483-1485)agG>agA p.R495R Q5T890 RAD26_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2 20 DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding CCTTTAAAAGGAGAGAAGAGC 0.388000 25 56 0 0 1 0 0 ROCK2 9475 broad.mit.edu 37 2 11376025 11376025 + Missense_Mutation SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr2:11376025C>T ENST00000315872.6 - 5 974 c.526G>A c.(526-528)Gac>Aac p.D176N ROCK2_ENST00000462366.1_5'UTR NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 176 Protein kinase. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) TTTACAAGGTCTCCACCAGGC 0.373000 25 58 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558642 113558642 + Missense_Mutation SNP A A C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr7:113558642A>C ENST00000284601.3 - 1 478 c.410T>G c.(409-411)cTt>cGt p.L137R NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 137 CBM21. glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TGTAGACCCAAGAAGAGACTC 0.358000 16 164 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 43 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128839544 128839544 + Missense_Mutation SNP T T C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr11:128839544T>C ENST00000310343.9 - 22 5521 c.5522A>G c.(5521-5523)cAt>cGt p.H1841R ARHGAP32_ENST00000527272.1_Missense_Mutation_p.H1492R|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.H1492R NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 1841 Interaction with FYN. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 GCCTCCGTGATGGTGGGCTCT 0.612000 60 46 0 0 1 0 0 TNPO1 3842 broad.mit.edu 37 5 72151642 72151642 + Missense_Mutation SNP A A C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr5:72151642A>C ENST00000337273.5 + 4 673 c.247A>C c.(247-249)Aat>Cat p.N83H TNPO1_ENST00000513944.1_3'UTR|TNPO1_ENST00000454282.1_Intron|TNPO1_ENST00000523768.1_Intron|TNPO1_ENST00000506351.2_Missense_Mutation_p.N75H|TNPO1_ENST00000447967.2_Missense_Mutation_p.N75H NM_002270.3 NP_002261.3 Q92973 TNPO1_HUMAN transportin 1 83 Importin N-terminal. interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation cytosol|nucleus nuclear localization sequence binding|protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 Lung NSC(167;0.0053)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;6.14e-54) CTTGAAGAATAATGTGAAAGC 0.328000 13 28 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18846140 18846140 + RNA SNP T T C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr22:18846140T>C ENST00000412938.1 + 0 3498 TAGGGCACCTTGGACCTCTCT 0.617000 6 27 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130380668 130380668 + Silent SNP T T A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr3:130380668T>A ENST00000358511.6 + 34 6049 c.6018T>A c.(6016-6018)acT>acA p.T2006T COL6A6_ENST00000453409.2_Silent_p.T2006T NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 2006 Nonhelical region.|VWFA 9. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 CTTCTGTCACTGGAGACCGGG 0.507000 7 36 0 0 1 0 0 GOLGA8DP 100132979 broad.mit.edu 37 15 22709657 22709657 + RNA SNP C C A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr15:22709657C>A ENST00000314246.8 - 0 1127 GGACAAGCTCCTCTCCAGCTT 0.557000 51 231 2.2129e-31 2.56002e-31 1 1 0 PHF21A 51317 broad.mit.edu 37 11 45970983 45970983 + Silent SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr11:45970983C>T ENST00000257821.4 - 12 1820 c.1197G>A c.(1195-1197)ccG>ccA p.P399P PHF21A_ENST00000418153.2_Silent_p.P398P|PHF21A_ENST00000323180.6_Silent_p.P399P|PHF21A_ENST00000527753.1_5'UTR NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 398 blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 CACTGTAGACCGGATTTGCTG 0.458000 21 108 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578431 7578431 + Nonsense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr17:7578431G>A ENST00000420246.2 - 5 631 c.499C>T c.(499-501)Cag>Tag p.Q167* TP53_ENST00000455263.2_Nonsense_Mutation_p.Q167*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q167*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q167*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q167*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q167*|TP53_ENST00000574684.1_5'UTR NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 167 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HD (in a sporadic cancer; somatic mutation).|QH -> YL (in a sporadic cancer; 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.Q167*(23)|p.0?(8)|p.Q167fs*13(3)|p.Q167fs*14(2)|p.Q167fs*3(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Q167_H168>YL(1)|p.Q167K(1)|p.Y163fs*1(1)|p.Q167fs*12(1)|p.P151_V173del23(1)|p.Q165_M169delQSQHM(1)|p.Q167del(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Q74*(1)|p.Q167E(1)|p.Q35*(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) GTCATGTGCTGTGACTGCTTG 0.642000 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) 39 30 0 0 1 0 0 KLK8 11202 broad.mit.edu 37 19 51503709 51503709 + Nonsense_Mutation SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr19:51503709C>T ENST00000600767.1 - 4 690 c.201G>A c.(199-201)tgG>tgA p.W67* KLK8_ENST00000347619.4_Intron|KLK8_ENST00000291726.7_Nonsense_Mutation_p.W67*|KLK8_ENST00000391806.2_Nonsense_Mutation_p.W112*|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000593490.1_Intron|CTB-147C22.9_ENST00000594512.1_RNA O60259 KLK8_HUMAN kallikrein-related peptidase 8 67 Peptidase S1. cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) CTGTAAGGACCCAGTTGCCAC 0.592000 30 172 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644386 53644386 + Silent SNP T T A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr19:53644386T>A ENST00000452676.2 - 5 2124 c.1698A>T c.(1696-1698)ggA>ggT p.G566G ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AAGGTTTTTCTCCAGTATGGA 0.408000 6 299 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56329372 56329372 + Missense_Mutation SNP G G T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr19:56329372G>T ENST00000443188.1 - 4 879 c.169C>A c.(169-171)Cca>Aca p.P57T NLRP11_ENST00000589093.1_Missense_Mutation_p.P57T|NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000589824.2_Missense_Mutation_p.P57T|NLRP11_ENST00000360133.3_Missense_Mutation_p.P57T NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 57 DAPIN. ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TAAGAGATTGGCAACACGTTA 0.388000 19 113 7.45023e-12 8.25471e-12 1 1 0 RANBP6 26953 broad.mit.edu 37 9 6015065 6015065 + Missense_Mutation SNP G G C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr9:6015065G>C ENST00000259569.5 - 1 553 c.543C>G c.(541-543)atC>atG p.I181M RANBP6_ENST00000485372.1_Intron NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 181 protein transport cytoplasm|nucleus binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) ACAACCGTTTGATGATATCCA 0.433000 19 43 0 0 1 0 0 KIF2A 3796 broad.mit.edu 37 5 61659554 61659554 + Nonsense_Mutation SNP C C A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr5:61659554C>A ENST00000381103.2 + 15 1720 c.1235C>A c.(1234-1236)tCa>tAa p.S412* KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000401507.3_Nonsense_Mutation_p.S432*|KIF2A_ENST00000407818.3_Nonsense_Mutation_p.S432*|KIF2A_ENST00000506857.1_Nonsense_Mutation_p.S386* NM_001243952.1 NP_001230881.1 O00139 KIF2A_HUMAN kinesin heavy chain member 2A 432 Kinesin-motor. blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development centrosome|cytosol|microtubule|spindle pole ATP binding|microtubule motor activity|protein binding NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 15 Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.14) AATGCACATTCATCTCGGAGC 0.353000 38 34 2.54354e-34 2.95702e-34 1 1 0 PDE4DIP 9659 broad.mit.edu 37 1 144930711 144930711 + Missense_Mutation SNP C C G TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr1:144930711C>G ENST00000529945.1 - 1 1437 c.998G>C c.(997-999)aGt>aCt p.S333T PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.S333T|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000530740.1_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GAAACCGGAACTAACTCCATC 0.527000 T PDGFRB MPD 90 177 0 0 1 0 0 YEATS2 55689 broad.mit.edu 37 3 183474315 183474315 + Splice_Site SNP G G T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr3:183474315G>T ENST00000305135.5 + 12 1585 c.e12-1 NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TAATTAATAAGGTTCCCCAAT 0.443000 18 199 6.94344e-10 7.58635e-10 1 1 0 RTKN 6242 broad.mit.edu 37 2 74656049 74656049 + Missense_Mutation SNP A A C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr2:74656049A>C ENST00000305557.5 - 8 1322 c.737T>G c.(736-738)tTg>tGg p.L246W RTKN_ENST00000233330.6_Missense_Mutation_p.L209W|RTKN_ENST00000272430.5_Missense_Mutation_p.L259W NM_033046.2 NP_149035.1 Q9BST9 RTKN_HUMAN rhotekin 259 apoptosis|regulation of anti-apoptosis|Rho protein signal transduction intracellular GTP binding|GTP-Rho binding|GTPase inhibitor activity endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 16 GGTGTGAGCCAAGAGGTGGTA 0.567000 10 68 0 0 1 0 0 UBA1 7317 broad.mit.edu 37 X 47058499 47058499 + Missense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chrX:47058499G>A ENST00000335972.6 + 3 353 c.170G>A c.(169-171)cGg>cAg p.R57Q UBA1_ENST00000377351.4_Missense_Mutation_p.R57Q NM_003334.3 NP_003325.2 P22314 UBA1_HUMAN ubiquitin-like modifier activating enzyme 1 57 cell death|protein modification process ATP binding|ligase activity|protein binding|small protein activating enzyme activity breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CTTTACTCCCGGCAGCTGTAA 0.557000 24 45 0 0 1 0 0 DZIP3 9666 broad.mit.edu 37 3 108366924 108366924 + Missense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr3:108366924G>A ENST00000361582.3 + 16 2157 c.1927G>A c.(1927-1929)Gaa>Aaa p.E643K DZIP3_ENST00000463306.1_Missense_Mutation_p.E643K NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 643 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 AATACCCAGTGAATCTTCAAC 0.358000 30 91 0 0 1 0 0 SMYD3 64754 broad.mit.edu 37 1 246027161 246027161 + Missense_Mutation SNP G G T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr1:246027161G>T ENST00000490107.1 - 9 880 c.664C>A c.(664-666)Caa>Aaa p.Q222K SMYD3_ENST00000388985.4_Missense_Mutation_p.Q281K|SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000541742.1_Missense_Mutation_p.Q222K NM_001167740.1 NP_001161212.1 Q9H7B4 SMYD3_HUMAN SET and MYND domain containing 3 281 SET. cytoplasm|nucleus histone-lysine N-methyltransferase activity|protein binding|zinc ion binding breast(3)|large_intestine(5)|lung(8)|skin(1) 17 all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242) all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164) OV - Ovarian serous cystadenocarcinoma(106;0.0129) all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537) TTCCATACTTGCTCATCACCA 0.428000 7 44 3.09899e-07 3.33955e-07 1 1 0 NXF4 55999 broad.mit.edu 37 X 101805040 101805040 + RNA SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chrX:101805040G>A ENST00000360035.2 + 0 148 NR_002216.1 endometrium(2)|lung(8) 10 GGTTAAGGGGGATCCTGAGCA 0.537000 42 54 0 0 1 0 0 PRPF6 24148 broad.mit.edu 37 20 62631033 62631033 + Missense_Mutation SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr20:62631033C>T ENST00000535781.1 + 8 1055 c.944C>T c.(943-945)tCa>tTa p.S315L ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron O94906 PRP6_HUMAN pre-mRNA processing factor 6 315 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) TGGATTGCATCAGCCCGCCTG 0.562000 17 60 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16284174 16284174 + Silent SNP G G T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr16:16284174G>T ENST00000205557.7 - 12 1511 c.1482C>A c.(1480-1482)atC>atA p.I494I ABCC6_ENST00000574094.1_5'UTR NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 494 ABC transmembrane type-1 1. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) AGTTCCTGAGGATAGAGCTGG 0.582000 67 56 1.32218e-49 1.54472e-49 1 1 0 MEN1 4221 broad.mit.edu 37 11 64572247 64572247 + Silent SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr11:64572247C>T ENST00000337652.1 - 10 1910 c.1407G>A c.(1405-1407)gcG>gcA p.A469A MEN1_ENST00000394374.2_Silent_p.A469A|MEN1_ENST00000394376.1_Silent_p.A469A|MEN1_ENST00000315422.4_Silent_p.A464A|MEN1_ENST00000312049.6_Silent_p.A464A|MEN1_ENST00000443283.1_Silent_p.A469A|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377316.2_Silent_p.A409A|MEN1_ENST00000377321.1_Silent_p.A429A|MEN1_ENST00000377313.1_Silent_p.A469A|MEN1_ENST00000377326.3_Silent_p.A464A NM_130803.2 NP_570715.1 O00255 MEN1_HUMAN multiple endocrine neoplasia I 469 DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 CGGCCTCGGCCGCCTCGGCCT 0.726000 """D, Mis, N, F, S""" """parathyroid tumors, Pancreatic neuroendocrine tumors""" """parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid""" Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated 12 55 0 0 1 0 0 ATP5J 522 broad.mit.edu 37 21 27097603 27097603 + Missense_Mutation SNP G G C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr21:27097603G>C ENST00000400093.3 - 3 914 c.223C>G c.(223-225)Ctt>Gtt p.L75V ATP5J_ENST00000400094.1_Missense_Mutation_p.L75V|ATP5J_ENST00000457143.2_Missense_Mutation_p.L83V|ATP5J_ENST00000284971.3_Missense_Mutation_p.L75V|ATP5J_ENST00000400087.3_Missense_Mutation_p.L75V|ATP5J_ENST00000400099.1_Missense_Mutation_p.L75V|ATP5J_ENST00000400090.3_Missense_Mutation_p.L75V NM_001003701.1|NM_001003703.1|NM_001685.4 NP_001003701.1|NP_001003703.1|NP_001676.2 P18859 ATP5J_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 75 ATP catabolic process|respiratory electron transport chain hydrogen ion transmembrane transporter activity cervix(1)|endometrium(1)|lung(1)|pancreas(1) 4 AGCTTAAAAAGCTCCCTCTCC 0.373000 13 35 0 0 1 0 0 SETD5 55209 broad.mit.edu 37 3 9476521 9476521 + Missense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr3:9476521G>A ENST00000402466.1 + 6 778 c.10G>A c.(10-12)Ggg>Agg p.G4R SETD5_ENST00000402198.1_Missense_Mutation_p.G115R|SETD5_ENST00000407969.1_Missense_Mutation_p.G134R|SETD5_ENST00000406341.1_Missense_Mutation_p.G115R|SETD5_ENST00000302463.6_Missense_Mutation_p.G4R Q9C0A6 SETD5_HUMAN SET domain containing 5 115 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) AATGAGCAGGGGGAAGGTTAT 0.443000 5 34 0 0 1 0 0 IGKV1-5 28299 broad.mit.edu 37 2 89247307 89247307 + RNA SNP C C G TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr2:89247307C>G ENST00000496168.1 - 0 168 TGTGTCCTGACTGGGTCTGAC 0.562000 5 160 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121008505 121008505 + Missense_Mutation SNP G G A rs144844263 TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr11:121008505G>A ENST00000392793.1 + 11 3588 c.3317G>A c.(3316-3318)gGc>gAc p.G1106D TECTA_ENST00000264037.2_Missense_Mutation_p.G1106D O75443 TECTA_HUMAN tectorin alpha 1106 VWFD 3. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TCAGGCTACGGCCACTACCTC 0.582000 27 28 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10116617 10116617 + Missense_Mutation SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr19:10116617C>T ENST00000264828.3 - 3 377 c.292G>A c.(292-294)Gga>Aga p.G98R NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 98 TSP N-terminal. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GCTGGCTGTCCCCGCAAGGTG 0.617000 29 40 0 0 1 0 0 COPA 1314 broad.mit.edu 37 1 160261152 160261152 + Silent SNP G G C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr1:160261152G>C ENST00000241704.7 - 31 3622 c.3393C>G c.(3391-3393)ctC>ctG p.L1131L COPA_ENST00000368069.3_Silent_p.L1140L NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 1131 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCTTGGGCCCGAGTTCTAGTA 0.547000 OREG0013929 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 81 0 0 1 0 0 UBA1 7317 broad.mit.edu 37 X 47058202 47058202 + Splice_Site SNP A A T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chrX:47058202A>T ENST00000335972.6 + 2 184 c.0_splice c.e2-1 p.M1_splice UBA1_ENST00000377351.4_Splice_Site_p.M1_splice NM_003334.3 NP_003325.2 P22314 UBA1_HUMAN ubiquitin-like modifier activating enzyme 1 1 cell death|protein modification process ATP binding|ligase activity|protein binding|small protein activating enzyme activity breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TTTCCTCCAGATGTCCAGCTC 0.542000 9 21 0 0 1 0 0 PSMB9 5698 broad.mit.edu 37 6 32825906 32825906 + Missense_Mutation SNP G G T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr6:32825906G>T ENST00000395330.1 + 4 464 c.316G>T c.(316-318)Ggt>Tgt p.G106C PSMB9_ENST00000374859.2_Missense_Mutation_p.G129C|PSMB9_ENST00000453265.2_Missense_Mutation_p.G85C P28065 PSB9_HUMAN proteasome (prosome, macropain) subunit, beta type, 9 129 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity large_intestine(4)|lung(4)|skin(1) 9 ACGTGAAGGAGGTCAGGTGAG 0.488000 14 54 1.3612e-06 1.45359e-06 1 1 0 MPHOSPH9 10198 broad.mit.edu 37 12 123679044 123679044 + Missense_Mutation SNP G G C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr12:123679044G>C ENST00000606320.1 - 13 2336 c.2130C>G c.(2128-2130)atC>atG p.I710M MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.I680M|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.I558M|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.I558M Q99550 MPP9_HUMAN M-phase phosphoprotein 9 558 M phase of mitotic cell cycle centriole|Golgi membrane NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1) 33 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) TTAGTCGAATGATGGTATTGT 0.358000 24 13 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85722859 85722859 + Silent SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr4:85722859G>A ENST00000322366.6 - 17 3173 c.2766C>T c.(2764-2766)ccC>ccT p.P922P WDFY3_ENST00000295888.4_Silent_p.P922P Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 922 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TCCGCTGCAGGGGCGGGTGCA 0.502000 13 44 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 56138547 56138547 + Missense_Mutation SNP T T C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr10:56138547T>C ENST00000373965.2 - 4 707 c.313A>G c.(313-315)Aga>Gga p.R105G PCDH15_ENST00000414778.1_Missense_Mutation_p.R110G|PCDH15_ENST00000395430.1_Missense_Mutation_p.R105G|PCDH15_ENST00000395442.1_Missense_Mutation_p.R105G|PCDH15_ENST00000395433.1_Missense_Mutation_p.R83G|PCDH15_ENST00000373955.1_Missense_Mutation_p.R105G|PCDH15_ENST00000361849.3_Missense_Mutation_p.R105G|PCDH15_ENST00000395438.1_Missense_Mutation_p.R105G|PCDH15_ENST00000395440.1_Missense_Mutation_p.R105G|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.R105G|PCDH15_ENST00000437009.1_Missense_Mutation_p.R105G|PCDH15_ENST00000395446.1_Missense_Mutation_p.R105G|PCDH15_ENST00000395432.2_Missense_Mutation_p.R105G|PCDH15_ENST00000320301.6_Missense_Mutation_p.R105G|PCDH15_ENST00000373957.3_Missense_Mutation_p.R83G NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 105 Cadherin 1. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CTAACATCTCTATCCAGAACT 0.313000 HNSCC(58;0.16) 10 46 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62294723 62294723 + Missense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr11:62294723G>A ENST00000378024.4 - 5 7440 c.7166C>T c.(7165-7167)cCa>cTa p.P2389L AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2389 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ATCGAGGTCTGGCATAGAGAT 0.478000 55 58 0 0 1 0 0 TNFSF13B 10673 broad.mit.edu 37 13 108955645 108955645 + Missense_Mutation SNP A A T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr13:108955645A>T ENST00000375887.4 + 4 704 c.526A>T c.(526-528)Agt>Tgt p.S176C TNFSF13B_ENST00000479435.1_3'UTR|TNFSF13B_ENST00000430559.1_Missense_Mutation_p.S157C|TNFSF13B_ENST00000542136.1_Intron NM_006573.4 NP_006564.1 Q9Y275 TN13B_HUMAN tumor necrosis factor (ligand) superfamily, member 13b 176 cell proliferation|immune response|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity|tumor necrosis factor receptor binding large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104) all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19) TAAAAGGGGAAGTGCCCTAGA 0.348000 24 25 0 0 1 0 0 EPRS 2058 broad.mit.edu 37 1 220179656 220179656 + Splice_Site SNP C C G TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr1:220179656C>G ENST00000366923.3 - 15 2012 c.e15-1 EPRS_ENST00000464052.1_Splice_Site NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) ATCTGCATTTCTAGATATAAG 0.264000 20 42 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204956668 204956668 + Splice_Site SNP T T C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr1:204956668T>C ENST00000367172.4 + 24 3242 c.2914_splice c.e24+1 p.F972_splice NFASC_ENST00000339876.6_Splice_Site_p.F865_splice|NFASC_ENST00000404076.1_Splice_Site_p.F951_splice|NFASC_ENST00000338515.6_Splice_Site_p.F972_splice|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000539706.1_Splice_Site_p.F968_splice|NFASC_ENST00000513543.1_Splice_Site_p.F968_splice|NFASC_ENST00000404907.1_Splice_Site_p.F968_splice|NFASC_ENST00000360049.4_Splice_Site_p.F968_splice|NFASC_ENST00000367171.4_Splice_Site_p.F957_splice|NFASC_ENST00000367170.4_Splice_Site_p.F972_splice|NFASC_ENST00000401399.1_Splice_Site_p.F865_splice|NFASC_ENST00000367169.4_Splice_Site_p.F865_splice|NFASC_ENST00000338586.6_Splice_Site_p.F972_splice O94856 NFASC_HUMAN neurofascin 972 Fibronectin type-III 4. F -> V (in Ref. 3; AK127424). axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) ATATGTGGCCTGTACGTTCTG 0.493000 44 109 0 0 1 0 0 STEAP1 26872 broad.mit.edu 37 7 89790374 89790374 + Missense_Mutation SNP A A G TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr7:89790374A>G ENST00000297205.2 + 3 540 c.340A>G c.(340-342)Atc>Gtc p.I114V STEAP2-AS1_ENST00000478318.2_RNA NM_012449.2 NP_036581.1 Q9UHE8 STEA1_HUMAN six transmembrane epithelial antigen of the prostate 1 114 electron transport chain|ion transport|iron ion homeostasis cell-cell junction|endosome membrane|integral to plasma membrane channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 14 all_hematologic(106;0.112) AATCCTGGTCATCAACAAAGT 0.388000 17 144 0 0 1 0 0 TRAV21 28662 broad.mit.edu 37 14 22521230 22521230 + RNA SNP C C G TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr14:22521230C>G ENST00000390449.3 + 0 258 CTTAATGCCTCGCTGGATAAA 0.488000 20 24 0 0 1 0 0 ZNF280D 54816 broad.mit.edu 37 15 56923975 56923975 + Silent SNP T T C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr15:56923975T>C ENST00000559237.1 - 21 3305 c.2622A>G c.(2620-2622)gcA>gcG p.A874A ZNF280D_ENST00000267807.7_Silent_p.A887A NM_001002843.1 NP_001002843.1 Q6N043 Z280D_HUMAN zinc finger protein 280D 887 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 30 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) CATTATCTGATGCTAATCGCA 0.353000 47 35 0 0 1 0 0 AGO1 26523 broad.mit.edu 37 1 36359740 36359740 + Missense_Mutation SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr1:36359740C>T ENST00000373204.4 + 6 965 c.752C>T c.(751-753)tCt>tTt p.S251F AGO1_ENST00000373206.1_Missense_Mutation_p.S176F NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 CTCACGGACTCTCAGCGCGTT 0.547000 18 48 0 0 1 0 0 SLC2A10 81031 broad.mit.edu 37 20 45358032 45358032 + Silent SNP G G C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr20:45358032G>C ENST00000359271.2 + 4 1702 c.1452G>C c.(1450-1452)ctG>ctC p.L484L NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 484 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) TCTACGGACTGACCGCTGTCC 0.582000 25 61 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90437619 90437619 + Missense_Mutation SNP T T A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr6:90437619T>A ENST00000369393.3 - 37 5520 c.5405A>T c.(5404-5406)gAg>gTg p.E1802V MDN1_ENST00000428876.1_Missense_Mutation_p.E1802V Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1802 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CCAGGCAAACTCTCCTCCCTT 0.507000 37 45 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1264665 1264665 + Silent SNP C C A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr11:1264665C>A ENST00000447027.1 + 31 6622 c.6564C>A c.(6562-6564)acC>acA p.T2188T RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T2185T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2185 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TAGGGACCACCCACACACCCC 0.672000 4 20 0.00909568 0.00921279 1 1 0 FNDC1 84624 broad.mit.edu 37 6 159655440 159655440 + Missense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr6:159655440G>A ENST00000297267.9 + 11 4096 c.3896G>A c.(3895-3897)cGc>cAc p.R1299H FNDC1_ENST00000340366.6_Missense_Mutation_p.R1236H NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1299 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CTGTCCTTGCGCCAGAGGATG 0.602000 11 33 0 0 1 0 0 ATRN 8455 broad.mit.edu 37 20 3557521 3557521 + Missense_Mutation SNP T T C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr20:3557521T>C ENST00000262919.5 + 14 2298 c.2230T>C c.(2230-2232)Tat>Cat p.Y744H ATRN_ENST00000446916.2_Missense_Mutation_p.Y744H NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 744 PSI 1. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 CATTTTTAGGTATGAGAATTG 0.458000 27 64 0 0 1 0 0 P4HA1 5033 broad.mit.edu 37 10 74813153 74813153 + Missense_Mutation SNP T T C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr10:74813153T>C ENST00000412021.2 - 7 992 c.659A>G c.(658-660)gAc>gGc p.D220G P4HA1_ENST00000263556.3_Missense_Mutation_p.D220G|P4HA1_ENST00000440381.1_Missense_Mutation_p.D220G|P4HA1_ENST00000373008.2_Missense_Mutation_p.D220G|P4HA1_ENST00000307116.2_Missense_Mutation_p.D220G|P4HA1_ENST00000394890.2_Missense_Mutation_p.D220G NM_001142595.1 NP_001136067.1 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I 220 endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) CTTATCCAGGTCTCCCTGCTG 0.393000 15 62 0 0 1 0 0 FANCB 2187 broad.mit.edu 37 X 14882892 14882892 + Silent SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chrX:14882892G>A ENST00000398334.1 - 3 1008 c.741C>T c.(739-741)atC>atT p.I247I FANCB_ENST00000324138.3_Silent_p.I247I NM_001018113.1 NP_001018123.1 Q8NB91 FANCB_HUMAN Fanconi anemia, complementation group B 247 DNA repair nucleoplasm NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 Hepatocellular(33;0.183) GGTTTTTGATGATCTCAGTTG 0.353000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 17 16 0 0 1 0 0 LONP1 9361 broad.mit.edu 37 19 5719905 5719905 + Missense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr19:5719905G>A ENST00000360614.3 - 1 396 c.239C>T c.(238-240)tCg>tTg p.S80L LONP1_ENST00000540670.2_Intron|LONP1_ENST00000585374.1_Intron|LONP1_ENST00000590511.1_5'UTR|LONP1_ENST00000593119.1_Intron NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 80 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CTCGCCCCCCGAGAATGCGCC 0.761000 3 11 0 0 1 0 0 C1QL2 165257 broad.mit.edu 37 2 119915201 119915201 + Silent SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr2:119915201G>A ENST00000272520.3 - 1 1264 c.645C>T c.(643-645)gaC>gaT p.D215D NM_182528.3 NP_872334.2 Q7Z5L3 C1QL2_HUMAN complement component 1, q subcomponent-like 2 215 C1q. collagen NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1) 7 TGCTGGTGCCGTCGCCGCCGC 0.642000 HNSCC(49;0.14) 25 47 0 0 1 0 0 ZNF257 113835 broad.mit.edu 37 19 22271571 22271571 + Missense_Mutation SNP G G C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr19:22271571G>C ENST00000594947.1 + 4 1163 c.1019G>C c.(1018-1020)gGa>gCa p.G340A NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 340 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G340A(1) haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) ATTCATACTGGAGAGAAACCC 0.403000 16 70 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207176200 207176200 + Missense_Mutation SNP G G T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr2:207176200G>T ENST00000374423.3 + 5 7334 c.6948G>T c.(6946-6948)caG>caT p.Q2316H NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 2316 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 ATGGCCGACAGAAAGGTCCTT 0.493000 8 12 2.62144e-13 2.91821e-13 1 1 0 LRRC10 376132 broad.mit.edu 37 12 70004425 70004425 + Missense_Mutation SNP T T C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr12:70004425T>C ENST00000361484.3 - 1 517 c.194A>G c.(193-195)aAt>aGt p.N65S NM_201550.2 NP_963844.2 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 65 nucleus large_intestine(2)|lung(6) 8 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) AGGCAGGCTATTGAGGTGGTT 0.572000 8 41 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141110618 141110618 + Missense_Mutation SNP C C G TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr2:141110618C>G ENST00000389484.3 - 76 12525 c.11554G>C c.(11554-11556)Ggc>Cgc p.G3852R NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3852 EGF-like 9. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GAACATGTGCCAAACACCAAA 0.363000 TSP Lung(27;0.18) 34 71 0 0 1 0 0 SLC27A4 10999 broad.mit.edu 37 9 131122696 131122696 + Missense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr9:131122696G>A ENST00000300456.3 + 13 1975 c.1858G>A c.(1858-1860)Gcc>Acc p.A620T SLC27A4_ENST00000372870.1_Missense_Mutation_p.A214T NM_005094.3 NP_005085.2 Q6P1M0 S27A4_HUMAN solute carrier family 27 (fatty acid transporter), member 4 620 long-chain fatty acid transport|transmembrane transport integral to membrane fatty acid transporter activity|nucleotide binding|protein binding autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2) 13 CTATCTAGATGCCCAGAAGGG 0.602000 32 80 0 0 1 0 0 HS2ST1 9653 broad.mit.edu 37 1 87599295 87599295 + Splice_Site SNP A A G TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr1:87599295A>G ENST00000356813.4 + 7 766 c.e7-1 RP5-1052I5.1_ENST00000484933.2_lincRNA|RP5-1052I5.2_ENST00000370548.2_Splice_Site Q7LGA3 HS2ST_HUMAN heparan sulfate 2-O-sulfotransferase 1 Golgi membrane|integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5) 9 Lung NSC(277;0.153) all cancers(265;0.00699)|Epithelial(280;0.0261) CTTCCTTTCCAGCACCAGATA 0.507000 5 15 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69027997 69027997 + Silent SNP T T C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr8:69027997T>C ENST00000288368.4 + 26 3433 c.3156T>C c.(3154-3156)tcT>tcC p.S1052S NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1052 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GCCTTCTGTCTTCAATAACAT 0.333000 10 30 0 0 1 0 0 ZNF385B 151126 broad.mit.edu 37 2 180634263 180634263 + Missense_Mutation SNP C C A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr2:180634263C>A ENST00000410066.1 - 3 823 c.220G>T c.(220-222)Gcc>Tcc p.A74S NM_152520.4 NP_689733.3 Q569K4 Z385B_HUMAN zinc finger protein 385B 74 nucleus nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 26 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) CTGGCCTGGGCGGGTGGTGGG 0.622000 19 69 1.33834e-09 1.45552e-09 1 1 0 SRRT 51593 broad.mit.edu 37 7 100478967 100478967 + Missense_Mutation SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr7:100478967C>T ENST00000388793.4 + 3 404 c.184C>T c.(184-186)Cgg>Tgg p.R62W SRRT_ENST00000457580.2_Missense_Mutation_p.R62W|SRRT_ENST00000432932.1_Missense_Mutation_p.R62W|SRRT_ENST00000347433.4_Missense_Mutation_p.R62W NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 62 Arg-rich. cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 TGACCGGAATCGGCGAGAGCG 0.587000 53 133 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195400841 195400841 + RNA SNP C C A rs7615369 by1000genomes TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr3:195400841C>A ENST00000445430.1 + 0 1437 CTGAGCATCGCAGAGTCGTGC 0.552000 3 28 6.40141e-05 6.65521e-05 1 1 0 FAM135B 51059 broad.mit.edu 37 8 139165072 139165072 + Missense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr8:139165072G>A ENST00000395297.1 - 13 1816 c.1646C>T c.(1645-1647)cCa>cTa p.P549L NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 549 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) GGTCAGCACTGGGGCCTGTCC 0.507000 HNSCC(54;0.14) 44 92 0 0 1 0 0 PRKCG 5582 broad.mit.edu 37 19 54407937 54407937 + Missense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr19:54407937G>A ENST00000263431.3 + 16 1987 c.1705G>A c.(1705-1707)Gaa>Aaa p.E569K PRKCG_ENST00000540413.1_Missense_Mutation_p.E569K|PRKCG_ENST00000542049.1_Intron NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 569 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) GGCCATCATGGAACAAACTGT 0.592000 13 40 0 0 1 0 0 ARHGAP11A 9824 broad.mit.edu 37 15 32915726 32915726 + Missense_Mutation SNP C C A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr15:32915726C>A ENST00000361627.3 + 3 956 c.234C>A c.(232-234)gaC>gaA p.D78E ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.D78E|ARHGAP11A_ENST00000565905.1_5'UTR|ARHGAP11A_ENST00000543522.1_5'UTR|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.D78E NM_014783.3 NP_055598.1 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A 78 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.D78E(2) breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) CTTTAGAAGACCATATTCATA 0.373000 4 58 0.00024832 0.000255911 1 1 0 LPPR2 64748 broad.mit.edu 37 19 11470612 11470612 + Missense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr19:11470612G>A ENST00000251473.5 + 5 747 c.371G>A c.(370-372)cGg>cAg p.R124Q DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.R99Q NM_001170635.1|NM_022737.2 NP_001164106.1|NP_073574.2 CCCCCAGTGCGGAGGCTGGTC 0.632000 9 26 0 0 1 0 0 PIWIL3 440822 broad.mit.edu 37 22 25152630 25152630 + Missense_Mutation SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr22:25152630C>T ENST00000332271.5 - 5 814 c.398G>A c.(397-399)cGa>cAa p.R133Q PIWIL3_ENST00000533313.1_Missense_Mutation_p.R24Q|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.R24Q NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 133 cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 AGATATCACTCGGAAGTGGTT 0.418000 8 37 0 0 1 0 0 KLKB1 3818 broad.mit.edu 37 4 187159417 187159417 + Missense_Mutation SNP T T C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr4:187159417T>C ENST00000264690.6 + 6 683 c.496T>C c.(496-498)Tgc>Cgc p.C166R KLKB1_ENST00000513864.1_Missense_Mutation_p.C166R NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 166 Apple 2. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) CAGGAACAATTGCCTATTAAA 0.453000 6 42 0 0 1 0 0 CCL4 6351 broad.mit.edu 37 17 34431941 34431941 + Missense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr17:34431941G>A ENST00000250151.4 + 2 413 c.97G>A c.(97-99)Gcc>Acc p.A33T CCL4_ENST00000394495.1_Intron NM_002984.2 NP_002975.1 P13236 CCL4_HUMAN chemokine (C-C motif) ligand 4 33 cell adhesion|cell-cell signaling|cellular component movement|chemotaxis|establishment or maintenance of cell polarity|immune response|inflammatory response|response to virus|viral genome replication extracellular space chemokine activity|receptor signaling protein tyrosine kinase activity endometrium(1)|large_intestine(1)|lung(2) 4 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCCTCCCACCGCCTGCTGCTT 0.502000 27 8 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72189919 72189919 + Missense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr15:72189919G>A ENST00000356056.5 - 25 5397 c.4925C>T c.(4924-4926)tCa>tTa p.S1642L MYO9A_ENST00000564571.1_Missense_Mutation_p.S1642L|MYO9A_ENST00000424560.1_Missense_Mutation_p.S1642L|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.S1623L|MYO9A_ENST00000566885.1_Missense_Mutation_p.S1262L NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1642 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TTCTCTTTTTGAAATGCGATT 0.438000 24 72 0 0 1 0 0 ZFP41 286128 broad.mit.edu 37 8 144332575 144332575 + Missense_Mutation SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr8:144332575C>T ENST00000330701.4 + 2 931 c.562C>T c.(562-564)Cgc>Tgc p.R188C ZFP41_ENST00000522452.1_Missense_Mutation_p.R188C|ZFP41_ENST00000520584.1_Missense_Mutation_p.R188C NM_173832.3 NP_776193.1 Q8N8Y5 ZFP41_HUMAN ZFP41 zinc finger protein 188 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|lung(4)|ovary(1) 8 all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) CTGTCTCATCCGCCATCAGAA 0.637000 36 155 0 0 1 0 0 SEC14L5 9717 broad.mit.edu 37 16 5057406 5057406 + Silent SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr16:5057406G>A ENST00000251170.7 + 13 1671 c.1491G>A c.(1489-1491)gaG>gaA p.E497E NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 497 integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 TGACAGAAGAGGAGCAGGAGC 0.637000 33 26 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70225980 70225980 + Silent SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr1:70225980C>T ENST00000310961.5 + 4 526 c.108C>T c.(106-108)caC>caT p.H36H LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Silent_p.H69H|LRRC7_ENST00000035383.5_Silent_p.H31H Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 31 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 ATTACTCCCACTGCAGTCTTC 0.458000 11 41 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144931010 144931010 + Missense_Mutation SNP C C A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr1:144931010C>A ENST00000529945.1 - 1 1138 c.699G>T c.(697-699)atG>atT p.M233I PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.M233I|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000530740.1_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCTCTTCCTCCATGCTTTCTC 0.542000 T PDGFRB MPD 58 106 1.78197e-24 2.05143e-24 1 1 0 TMEM63A 9725 broad.mit.edu 37 1 226036232 226036232 + Silent SNP T T C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr1:226036232T>C ENST00000366835.3 - 23 2481 c.2211A>G c.(2209-2211)aaA>aaG p.K737K NM_014698.2 NP_055513.2 O94886 TM63A_HUMAN transmembrane protein 63A 737 integral to membrane|lysosomal membrane nucleotide binding breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) CCTCACTTCCTTTGTCACTTG 0.483000 24 28 0 0 1 0 0 ZNF730 100129543 broad.mit.edu 37 19 23328771 23328771 + Missense_Mutation SNP G G C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr19:23328771G>C ENST00000597761.2 + 4 1124 c.925G>C c.(925-927)Gag>Cag p.E309Q NM_001277403.1 NP_001264332.1 zinc finger protein 730 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1) 16 TCATACTAAAGAGCAACCATA 0.348000 13 21 0 0 1 0 0 KLHL14 57565 broad.mit.edu 37 18 30349804 30349804 + Nonsense_Mutation SNP C C A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr18:30349804C>A ENST00000359358.4 - 2 1189 c.751G>T c.(751-753)Gag>Tag p.E251* AC012123.1_ENST00000426194.1_Nonsense_Mutation_p.S11*|KLHL14_ENST00000358095.4_Nonsense_Mutation_p.E251* NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 251 BACK. cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 ATGCGGGTCTCGCGGTCGTGC 0.672000 7 48 0.0381472 0.0383096 1 1 0 RASGRP2 10235 broad.mit.edu 37 11 64496373 64496373 + Missense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr11:64496373G>A ENST00000377494.1 - 14 2655 c.1733C>T c.(1732-1734)tCt>tTt p.S578F RASGRP2_ENST00000354024.3_Missense_Mutation_p.S578F|RASGRP2_ENST00000377497.3_Missense_Mutation_p.S578F|RASGRP2_ENST00000394432.3_Missense_Mutation_p.S578F Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 (calcium and DAG-regulated) 578 platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GCGGGGCAGAGAGAAGCTGAA 0.642000 5 32 0 0 1 0 0 EMX2 2018 broad.mit.edu 37 10 119307725 119307725 + Silent SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr10:119307725C>T ENST00000553456.3 + 3 1565 c.741C>T c.(739-741)gaC>gaT p.D247D EMX2_ENST00000546446.1_3'UTR|EMX2_ENST00000442245.4_3'UTR NM_004098.3 NP_004089.1 Q04743 EMX2_HUMAN empty spiracles homeobox 2 247 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2) 12 Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22) all cancers(201;0.0133) AGGAAATAGACGTGACCTCAG 0.468000 12 6 0 0 1 0 0 UFL1 23376 broad.mit.edu 37 6 96971131 96971131 + Missense_Mutation SNP A A G TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr6:96971131A>G ENST00000369278.4 + 2 253 c.187A>G c.(187-189)Agt>Ggt p.S63G NM_015323.4 NP_056138.1 O94874 UFL1_HUMAN UFM1-specific ligase 1 63 Required for E3 UFM1-protein ligase activity. negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation endoplasmic reticulum|nucleus protein binding|UFM1 conjugating enzyme activity AGCCCAAATTAGTAAAGAAAT 0.358000 27 93 0 0 1 0 0 SMURF1 57154 broad.mit.edu 37 7 98649869 98649869 + Missense_Mutation SNP C C T rs148949544 TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr7:98649869C>T ENST00000361125.1 - 7 999 c.680G>A c.(679-681)cGa>cAa p.R227Q SMURF1_ENST00000480055.1_5'UTR|SMURF1_ENST00000361368.2_Missense_Mutation_p.R227Q NM_020429.2 NP_065162.1 Q9HCE7 SMUF1_HUMAN SMAD specific E3 ubiquitin protein ligase 1 227 BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1) 25 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) GCCGTGTGGTCGGTTCTGGGG 0.557000 5 216 0 0 1 0 0 PPAPDC1A 196051 broad.mit.edu 37 10 122349000 122349000 + Missense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr10:122349000G>A ENST00000398250.1 + 7 1154 c.802G>A c.(802-804)Gaa>Aaa p.E268K PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.E258K|PPAPDC1A_ENST00000398248.1_3'UTR|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.E205K NM_001030059.1 NP_001025230.1 Q5VZY2 PPC1A_HUMAN phosphatidic acid phosphatase type 2 domain containing 1A 268 phospholipid dephosphorylation integral to membrane phosphatidate phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 20 Lung NSC(174;0.1)|all_lung(145;0.132) all cancers(201;0.0117) GGGGATCACCGAAGGCCCGGT 0.552000 10 30 0 0 1 0 0 CLIC6 54102 broad.mit.edu 37 21 36081793 36081793 + Missense_Mutation SNP C C T rs141470374 TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr21:36081793C>T ENST00000360731.3 + 6 1910 c.1910C>T c.(1909-1911)aCg>aTg p.T637M CLIC6_ENST00000349499.2_Missense_Mutation_p.T619M Q96NY7 CLIC6_HUMAN chloride intracellular channel 6 637 GST C-terminal. chloride channel complex|cytoplasm|plasma membrane voltage-gated chloride channel activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 GACGAGCTGACGCTGGCTGAC 0.478000 18 46 0 0 1 0 0 R3HCC1L 27291 broad.mit.edu 37 10 99968590 99968590 + Missense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr10:99968590G>A ENST00000298999.3 + 5 1022 c.719G>A c.(718-720)aGc>aAc p.S240N R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.S240N|R3HCC1L_ENST00000370586.2_Intron NM_014472.4 NP_055287.4 R3H domain and coiled-coil containing 1-like ATAAAACTAAGCTCTGATTCT 0.378000 18 47 0 0 1 0 0 LZTR1 8216 broad.mit.edu 37 22 21349209 21349209 + Silent SNP C C A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr22:21349209C>A ENST00000215739.8 + 16 2195 c.1836C>A c.(1834-1836)atC>atA p.I612I LZTR1_ENST00000389355.3_Silent_p.I593I|LZTR1_ENST00000479606.1_3'UTR NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 612 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) ACCAGGTGATCATGATGAAGG 0.617000 19 124 3.99206e-14 4.46505e-14 1 1 0 ATP5J 522 broad.mit.edu 37 21 27097592 27097592 + Silent SNP G G C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr21:27097592G>C ENST00000400093.3 - 3 925 c.234C>G c.(232-234)ctC>ctG p.L78L ATP5J_ENST00000400094.1_Silent_p.L78L|ATP5J_ENST00000457143.2_Silent_p.L86L|ATP5J_ENST00000284971.3_Silent_p.L78L|ATP5J_ENST00000400087.3_Silent_p.L78L|ATP5J_ENST00000400099.1_Silent_p.L78L|ATP5J_ENST00000400090.3_Silent_p.L78L NM_001003701.1|NM_001003703.1|NM_001685.4 NP_001003701.1|NP_001003703.1|NP_001676.2 P18859 ATP5J_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 78 ATP catabolic process|respiratory electron transport chain hydrogen ion transmembrane transporter activity cervix(1)|endometrium(1)|lung(1)|pancreas(1) 4 ACATTTGCTTGAGCTTAAAAA 0.383000 12 40 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21862286 21862286 + Missense_Mutation SNP T T C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr14:21862286T>C ENST00000399982.2 - 31 5732 c.5668A>G c.(5668-5670)Ata>Gta p.I1890V CHD8_ENST00000557364.1_Missense_Mutation_p.I1890V|CHD8_ENST00000430710.3_Missense_Mutation_p.I1611V NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1890 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) AGCAATTCTATACGGTAGAGA 0.512000 61 17 0 0 1 0 0 BAALC 79870 broad.mit.edu 37 8 104240299 104240299 + Missense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr8:104240299G>A ENST00000309982.5 + 3 598 c.410G>A c.(409-411)cGa>cAa p.R137Q RP11-318M2.2_ENST00000499522.2_RNA|BAALC_ENST00000438105.2_3'UTR|BAALC_ENST00000297574.6_Missense_Mutation_p.R172Q|BAALC_ENST00000523754.1_3'UTR|RP11-318M2.2_ENST00000523614.2_RNA NM_024812.2 NP_079088.1 Q8WXS3 BAALC_HUMAN brain and acute leukemia, cytoplasmic 172 centrosome|membrane|nucleus kidney(1)|large_intestine(3)|lung(3) 7 OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133) GACAGAAGTCGAAGAATCACA 0.438000 11 60 0 0 1 0 0 CYP2R1 120227 broad.mit.edu 37 11 14913743 14913743 + Missense_Mutation SNP C C A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr11:14913743C>A ENST00000334636.5 - 1 55 c.9G>T c.(7-9)aaG>aaT p.K3N NM_024514.4 NP_078790.2 Q6VVX0 CP2R1_HUMAN cytochrome P450, family 2, subfamily R, polypeptide 1 3 hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Cholecalciferol(DB00169)|Ergocalciferol(DB00153) CTCTCCAAAGCTTCCACATCG 0.672000 6 15 1 1 1 1 0 CXCL6 6372 broad.mit.edu 37 4 74702999 74702999 + Missense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr4:74702999G>A ENST00000226317.5 + 3 576 c.322G>A c.(322-324)Gac>Aac p.D108N CXCL6_ENST00000515050.1_Missense_Mutation_p.D108N|CXCL6_ENST00000503446.1_3'UTR NM_002993.3 NP_002984.1 P80162 CXCL6_HUMAN chemokine (C-X-C motif) ligand 6 108 cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction extracellular space chemokine activity|heparin binding large_intestine(1)|lung(7) 8 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) GAAAATTTTGGACAGGTATTT 0.393000 29 85 0 0 1 0 0 ZFPL1 7542 broad.mit.edu 37 11 64855502 64855502 + Missense_Mutation SNP G G T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr11:64855502G>T ENST00000294258.3 + 8 1001 c.849G>T c.(847-849)atG>atT p.M283I NM_006782.3 NP_006773.2 O95159 ZFPL1_HUMAN zinc finger protein-like 1 283 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 TTGCCCTCATGTCTCGCCTAG 0.692000 29 109 3.33393e-15 3.76463e-15 1 1 0 HAL 3034 broad.mit.edu 37 12 96389516 96389516 + Missense_Mutation SNP C C A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr12:96389516C>A ENST00000261208.3 - 2 541 c.173G>T c.(172-174)tGc>tTc p.C58F HAL_ENST00000538703.1_Missense_Mutation_p.C58F|HAL_ENST00000541929.1_5'UTR NM_002108.3 NP_002099.1 P42357 HUTH_HUMAN histidine ammonia-lyase 58 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) CAGGCCCTTGCACCGGCGCAC 0.647000 7 64 8.12818e-05 8.41338e-05 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113871474 113871474 + Missense_Mutation SNP A A C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr8:113871474A>C ENST00000297405.5 - 11 1899 c.1655T>G c.(1654-1656)cTt>cGt p.L552R CSMD3_ENST00000343508.3_Missense_Mutation_p.L512R|CSMD3_ENST00000455883.2_Missense_Mutation_p.L448R|CSMD3_ENST00000352409.3_Missense_Mutation_p.L552R NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 552 CUB 3. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGGTCCTTGAAGATTAGAGCC 0.358000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 21 113 0 0 1 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 8 53 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178927974 178927974 + Splice_Site SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr3:178927974G>A ENST00000263967.3 + 8 1409 c.1251_splice c.e8-1 p.E418_splice NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 418 C2 PI3K-type. 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 p.E418K(6) 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) GTTTTTTAAGGAACACTGTCC 0.323000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 17 105 0 0 1 0 0 LYPLAL1 127018 broad.mit.edu 37 1 219384841 219384841 + Missense_Mutation SNP A A C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr1:219384841A>C ENST00000366928.5 + 5 532 c.485A>C c.(484-486)cAg>cCg p.Q162P LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Missense_Mutation_p.Q146P NM_138794.3 NP_620149.1 Q5VWZ2 LYPL1_HUMAN lysophospholipase-like 1 162 cytoplasm lysophospholipase activity large_intestine(1)|lung(5) 6 GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116) TAGGCTCTTCAGAAGAGTAAT 0.338000 12 99 0 0 1 0 0 C5orf20 140947 broad.mit.edu 37 5 134782660 134782660 + Missense_Mutation SNP C C G TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr5:134782660C>G ENST00000503143.2 - 1 378 c.139G>C c.(139-141)Gag>Cag p.E47Q TIFAB_ENST00000537858.1_3'UTR NM_130848.2 NP_570900.1 Q8TF63 DCNP1_HUMAN chromosome 5 open reading frame 20 47 nucleus endometrium(1)|lung(1)|prostate(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CCAAAGTTCTCTGGTGGAGCT 0.612000 8 10 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120476158 120476158 + Silent SNP T T G TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr9:120476158T>G ENST00000355622.6 + 3 1853 c.1752T>G c.(1750-1752)acT>acG p.T584T TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.T544T NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 584 LRRCT. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 TTGCTTGTACTTGTGAACACC 0.418000 20 45 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56484340 56484340 + Missense_Mutation SNP C C G TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr6:56484340C>G ENST00000370765.6 - 23 4599 c.4492G>C c.(4492-4494)Gag>Cag p.E1498Q DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 5177 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATATTCTTCTCAGCTACAGCA 0.323000 15 69 0 0 1 0 0 CT47B1 643311 broad.mit.edu 37 X 120009357 120009357 + Silent SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chrX:120009357C>T ENST00000371311.3 - 1 422 c.168G>A c.(166-168)ggG>ggA p.G56G NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 56 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 CTTCCACGGGCCCTGCGACTC 0.746000 11 30 0 0 1 0 0 CCDC150 284992 broad.mit.edu 37 2 197584280 197584280 + Silent SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr2:197584280C>T ENST00000389175.4 + 19 2190 c.2055C>T c.(2053-2055)atC>atT p.I685I CCDC150_ENST00000487663.1_3'UTR|CCDC150_ENST00000272831.7_Silent_p.I332I|CCDC150_ENST00000409270.1_Silent_p.I172I NM_001080539.1 NP_001074008.1 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 685 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33 AAGTCACAATCATGTTGGAGA 0.438000 4 123 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 94129050 94129050 + Missense_Mutation SNP G G C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr6:94129050G>C ENST00000369303.4 - 1 194 c.10C>G c.(10-12)Caa>Gaa p.Q4E EPHA7_ENST00000369297.1_Missense_Mutation_p.Q4E NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 4 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TACCGAGTTTGAAAAACCATG 0.438000 84 437 0 0 1 0 0 ALS2CR12 130540 broad.mit.edu 37 2 202153425 202153425 + Missense_Mutation SNP C C A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr2:202153425C>A ENST00000405148.2 - 15 1734 c.1291G>T c.(1291-1293)Gat>Tat p.D431Y ALS2CR12_ENST00000439709.1_Missense_Mutation_p.D408Y|ALS2CR12_ENST00000286190.5_Missense_Mutation_p.D431Y|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.D408Y NM_139163.2 NP_631902.2 Q96Q35 AL2SB_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 431 regulation of GTPase activity protein binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2) 21 GTGTCAGAATCATCCTTAGAA 0.373000 14 44 3.27435e-08 3.54471e-08 1 1 0 SLC45A4 57210 broad.mit.edu 37 8 142228950 142228950 + Missense_Mutation SNP C C A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr8:142228950C>A ENST00000519067.1 - 4 939 c.636G>T c.(634-636)gaG>gaT p.E212D SLC45A4_ENST00000517878.1_Missense_Mutation_p.E263D|SLC45A4_ENST00000433583.2_Missense_Mutation_p.E205D|SLC45A4_ENST00000024061.3_Missense_Mutation_p.E212D Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 263 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CAGCGCTGCGCTCCTGCTGCG 0.662000 6 194 3.59834e-05 3.77425e-05 1 1 0 ALPP 250 broad.mit.edu 37 2 233246071 233246071 + Missense_Mutation SNP G G A rs146681711 TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr2:233246071G>A ENST00000392027.2 + 10 1572 c.1303G>A c.(1303-1305)Gag>Aag p.E435K AC068134.8_ENST00000441266.1_RNA NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 435 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) TACCGAGAGCGAGAGCGGTGA 0.672000 7 30 0 0 1 0 0 ARNT 405 broad.mit.edu 37 1 150830859 150830859 + Missense_Mutation SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr1:150830859C>T ENST00000358595.5 - 2 303 c.103G>A c.(103-105)Gcc>Acc p.A35T ARNT_ENST00000505755.1_Missense_Mutation_p.A35T|ARNT_ENST00000354396.2_Missense_Mutation_p.A35T|ARNT_ENST00000515192.1_Missense_Mutation_p.A26T NM_001197325.1|NM_001668.3|NM_178427.2 NP_001184254.1|NP_001659.1|NP_848514.1 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 35 positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) TGGACAATGGCTCCTCCACCT 0.433000 T ETV6 AML 8 42 0 0 1 0 0 SERTAD2 9792 broad.mit.edu 37 2 64863635 64863635 + Missense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr2:64863635G>A ENST00000313349.3 - 2 668 c.371C>T c.(370-372)aCg>aTg p.T124M NM_014755.2 NP_055570.1 Q14140 SRTD2_HUMAN SERTA domain containing 2 124 negative regulation of cell growth|transcription, DNA-dependent cytoplasm|nucleus breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1) 12 CTCCAGGGGCGTAGTGCTTCC 0.697000 13 67 0 0 1 0 0 IL6R 3570 broad.mit.edu 37 1 154407115 154407115 + Missense_Mutation SNP C C G TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr1:154407115C>G ENST00000368485.3 + 4 1016 c.579C>G c.(577-579)tgC>tgG p.C193W IL6R_ENST00000344086.4_Missense_Mutation_p.C193W NM_000565.3 NP_000556.1 P08887 IL6RA_HUMAN interleukin 6 receptor 193 acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity IL6R/ATP8B2(2) breast(2)|large_intestine(1)|ovary(3) 6 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGTCCATGTGCGTCGCCAGTA 0.527000 4 147 0 0 1 0 0 ABLIM3 22885 broad.mit.edu 37 5 148619446 148619446 + Missense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr5:148619446G>A ENST00000506113.1 + 12 1681 c.1199G>A c.(1198-1200)cGc>cAc p.R400H RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R338H|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R338H|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R400H|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R400H|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R338H|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000519549.1_3'UTR O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 400 axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACTACTACCGCTCTGGTAAG 0.642000 18 46 0 0 1 0 0 PRRT2 112476 broad.mit.edu 37 16 29825093 29825093 + Nonsense_Mutation SNP C C T TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr16:29825093C>T ENST00000300797.6 + 2 892 c.718C>T c.(718-720)Cga>Tga p.R240* PRRT2_ENST00000567659.1_Nonsense_Mutation_p.R240*|PRRT2_ENST00000567551.1_3'UTR|PRRT2_ENST00000358758.7_Nonsense_Mutation_p.R240*|AC009133.20_ENST00000569039.1_RNA Q7Z6L0 PRRT2_HUMAN proline-rich transmembrane protein 2 240 response to biotic stimulus integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 8 AGGATCTCCCCGAGGTAGCCT 0.637000 6 25 0 0 1 0 0 RADIL 55698 broad.mit.edu 37 7 4839057 4839057 + Silent SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr7:4839057G>A ENST00000399583.3 - 15 3367 c.3180C>T c.(3178-3180)tcC>tcT p.S1060S RADIL_ENST00000538469.1_Silent_p.S820S|RADIL_ENST00000536091.1_3'UTR NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 1060 PDZ. cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) TTTCCACGTCGGACTTCGCGA 0.647000 42 51 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137294342 137294342 + Missense_Mutation SNP G G A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr7:137294342G>A ENST00000453654.1 - 9 646 c.107C>T c.(106-108)gCt>gTt p.A36V DGKI_ENST00000424189.2_Missense_Mutation_p.A336V|DGKI_ENST00000288490.5_Missense_Mutation_p.A336V|DGKI_ENST00000446122.1_Missense_Mutation_p.A336V O75912 DGKI_HUMAN diacylglycerol kinase, iota 336 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 CCGATTTGAAGCCTTCAGGGA 0.458000 8 46 0 0 1 0 0 PRKD2 25865 broad.mit.edu 37 19 47197242 47197242 + Missense_Mutation SNP G G C TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr19:47197242G>C ENST00000433867.1 - 11 1943 c.1466C>G c.(1465-1467)cCa>cGa p.P489R PRKD2_ENST00000601806.1_Missense_Mutation_p.P332R|PRKD2_ENST00000291281.4_Missense_Mutation_p.P489R|PRKD2_ENST00000595515.1_Missense_Mutation_p.P489R|PRKD2_ENST00000600194.1_Missense_Mutation_p.P332R NM_001079880.1|NM_001079881.1|NM_016457.4 NP_001073349.1|NP_001073350.1|NP_057541.2 Q9BZL6 KPCD2_HUMAN protein kinase D2 489 PH. cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 41 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) CTGCCCACTTGGCCCACCCGG 0.692000 13 69 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 150908513 150908513 + Missense_Mutation SNP A A G TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr3:150908513A>G ENST00000474524.1 + 13 1801 c.1763A>G c.(1762-1764)aAc>aGc p.N588S MED12L_ENST00000273432.4_Missense_Mutation_p.N448S|MED12L_ENST00000309237.4_Missense_Mutation_p.N588S|MED12L_ENST00000422248.2_Missense_Mutation_p.N588S NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 588 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCGGACCCAAACAGTGAATGT 0.403000 23 27 0 0 1 0 0 ZNF599 148103 broad.mit.edu 37 19 35251299 35251299 + Missense_Mutation SNP C C A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr19:35251299C>A ENST00000329285.7 - 4 780 c.407G>T c.(406-408)aGg>aTg p.R136M NM_001007248.2 NP_001007249.1 Q96NL3 ZN599_HUMAN zinc finger protein 599 136 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) TGTTCCTGGCCTCAAGTTCCC 0.443000 31 148 2.48696e-23 2.84914e-23 1 1 0 ZNF649 65251 broad.mit.edu 37 19 52394714 52394714 + Silent SNP C C T rs149943001 TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr19:52394714C>T ENST00000354957.3 - 5 959 c.675G>A c.(673-675)gaG>gaA p.E225E ZNF649_ENST00000600738.1_Intron|CTC-429C10.2_ENST00000600329.1_RNA NM_023074.3 NP_075562.2 Q9BS31 ZN649_HUMAN zinc finger protein 649 225 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) TGTGAGCTCTCTCGTGTTCAG 0.498000 19 123 0 0 1 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89100588 89100588 + RNA DEL A A - TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr2:89100588delA ENST00000393525.3 + 0 1089 TTTGTCAACTAAAAAAACAAA 0.343 20 70 --- --- --- --- ANKRD36BP2 645784 broad.mit.edu 37 2 89104896 89104896 + RNA DEL C C - rs5832744 TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr2:89104896delC ENST00000393525.3 + 0 4872 ATTTCAGATGCCACAGGTGTT 0.313 2 4 --- --- --- --- RBM43 375287 broad.mit.edu 37 2 152108088 152108088 + Frame_Shift_Del DEL T T - TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr2:152108088delT ENST00000331426.5 - 4 557 c.406delA c.(406-408)tcfs p.I136fs NM_198557.2 NP_940959.1 Q6ZSC3 RBM43_HUMAN RNA binding motif protein 43 136 nucleotide binding|RNA binding p.I136fs*4(1) endometrium(2)|large_intestine(3)|lung(2)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.131) AAACTCGGGATTTTTTTTTTC 0.388 8 199 --- --- --- --- LINC00969 440993 broad.mit.edu 37 3 195400918 195400919 + RNA INS - - TT rs55992531 by1000genomes TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr3:195400918_195400919insTT ENST00000445430.1 + 0 1454 AGTCttttttctttttttttga 0.525 7 10 --- --- --- --- NOL7 51406 broad.mit.edu 37 6 13615668 13615670 + In_Frame_Del DEL GGA GGA - TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr6:13615668_13615670delGGA ENST00000451315.2 + 1 110_112 c.78_80delGGA c.(76-81)tcg>tc p.SE26del NM_016167.3 NP_057251.2 Q9UMY1 NOL7_HUMAN nucleolar protein 7, 27kDa 26 mitochondrion|nucleolus breast(1)|large_intestine(3)|lung(1) 5 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.135) Epithelial(50;0.176) AGCTGGCCTCGGAGGAGGAGGAG 0.729 OREG0017200 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- HNRNPKP3 399881 broad.mit.edu 37 11 43283606 43283606 + RNA DEL A A - TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr11:43283606delA ENST00000511537.1 - 0 1329 NR_033868.1 AAGCAAATGTAAAAAAAAAAA 0.388 5 6 --- --- --- --- NUMA1 4926 broad.mit.edu 37 11 71724848 71724849 + In_Frame_Ins INS - - CCT TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr11:71724848_71724849insCCT ENST00000393695.3 - 15 4031_4032 c.3700_3701insAGG c.(3700-3702)gtc>AGGgtc p.1233_1234insR NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_In_Frame_Ins_p.1233_1234insR NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1233 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 CAGGATGGACACCTCCTCCTCC 0.599 T RARA APL 23 116 --- --- --- --- JRKL 8690 broad.mit.edu 37 11 96124135 96124137 + In_Frame_Del DEL TTC TTC - TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr11:96124135_96124137delTTC ENST00000458427.1 + 1 978_980 c.322_324delTTC c.(322-324)del p.F110del JRKL_ENST00000546177.1_Intron|JRKL_ENST00000332349.4_In_Frame_Del_p.F110del NM_003772.3 NP_003763.2 Q9Y4A0 JERKL_HUMAN jerky homolog-like (mouse) 110 HTH CENPB-type. central nervous system development|regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) BRCA - Breast invasive adenocarcinoma(274;0.148) AAGGGCAGAGTTCTTCTTTTATG 0.438 90 93 --- --- --- --- STAB2 55576 broad.mit.edu 37 12 104121051 104121061 + Frame_Shift_Del DEL TTCGTGAAAGA TTCGTGAAAGA - rs142064323 TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr12:104121051_104121061delTTCGTGAAAGA ENST00000388887.2 + 47 5062_5072 c.4858_4868delTTCGTGAAAGA c.(4858-4869)tfs p.FVKD1620fs NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1620 FAS1 5. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.F1620F(1) NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 ACAGGAGCATTTCGTGAAAGATCTGGTCGGC 0.521 24 171 --- --- --- --- ATXN2 6311 broad.mit.edu 37 12 112036754 112036756 + In_Frame_Del DEL GCT GCT - rs10560189 TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr12:112036754_112036756delGCT ENST00000377617.3 - 1 724_726 c.563_565delAGC c.(562-567)ccg>c p.QP188del ATXN2_ENST00000550104.1_In_Frame_Del_p.QP188del|ATXN2_ENST00000542287.2_Intron|ATXN2_ENST00000535949.1_Intron|ATXN2_ENST00000549455.1_5'UTR NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 188 Missing (in Ref. 1; AAB19200 and 5; CAA69589). cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 GCGGGCGGCGgctgctgctgctg 0.709 3 3 --- --- --- --- ZIC5 85416 broad.mit.edu 37 13 100623843 100623844 + Frame_Shift_Ins INS - - A TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr13:100623843_100623844insA ENST00000267294.4 - 1 319_320 c.86_87insT c.(85-87)tagfs p.*29fs NM_033132.3 NP_149123.2 Q96T25 ZIC5_HUMAN Zic family member 5 29 cell differentiation nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2) 9 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TCCTCTTGCTCAAAGGGGGCTC 0.584 2 4 --- --- --- --- KRTAP2-4 85294 broad.mit.edu 37 17 39221759 39221773 + In_Frame_Del DEL GCAGGGGGGCCGGCA GCAGGGGGGCCGGCA - rs349782 by1000genomes TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr17:39221759_39221773delGCAGGGGGGCCGGCA ENST00000394015.2 - 1 358_372 c.325_339delTGCCGGCCCCCCTGC c.(325-339)del p.CRPPC109del NM_033184.3 NP_149440.1 Q9BYR9 KRA24_HUMAN keratin associated protein 2-4 109 10 X 5 AA repeats of C-C-[CDPQRW]- [ADPRS]-[CIPSTV]. keratin filament skin(1) 1 Breast(137;0.000496)|Myeloproliferative disorder(1115;0.204) STAD - Stomach adenocarcinoma(17;0.000371) TCGGCTGGCCGCAGGGGGGCCGGCAGCAGGGGGAC 0.660 2 4 --- --- --- --- KIAA0195 9772 broad.mit.edu 37 17 73495357 73495363 + Frame_Shift_Del DEL ACCAGAA ACCAGAA - TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr17:73495357_73495363delACCAGAA ENST00000314256.7 + 32 4407_4413 c.4013_4019delACCAGAA c.(4012-4020)tgfs p.YQK1338fs KIAA0195_ENST00000375248.5_Frame_Shift_Del_p.YQK1348fs|KIAA0195_ENST00000579208.1_Frame_Shift_Del_p.YQK989fs NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 1338 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CGAGTCCGCTACCAGAAGCGACAGAAG 0.589 69 31 --- --- --- --- FHOD3 80206 broad.mit.edu 37 18 34261459 34261460 + Frame_Shift_Del DEL AG AG - TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr18:34261459_34261460delAG ENST00000257209.4 + 12 1493_1494 c.1371_1372delAG c.(1369-1374)gcagfs p.AE457fs FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 457 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CACTGGCAGCAGAGAGAGAGAG 0.460 9 104 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11049306 11049307 + RNA INS - - T rs57143135 TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr21:11049306_11049307insT ENST00000470054.1 - 0 659 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATATCCAGTAATTTTTTTAAGT 0.272 9 73 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11078137 11078137 + RNA DEL C C - rs143419676 TCGA-BA-A8YP-01A-11D-A391-08 TCGA-BA-A8YP-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14a230ed-5c57-4643-97d4-6218859e62a4 ff13e32c-b2fc-48cd-b2b4-59ea039b7a84 g.chr21:11078137delC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) caaaaattagccaggcgtggt 0.547 3 6 --- --- --- ---