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 ZFHX4 79776 broad.mit.edu 37 8 77616502 77616502 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr8:77616502C>T ENST00000521891.2 + 2 627 c.179C>T c.(178-180)gCc>gTc p.A60V ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A60V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A60V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A60V NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 60 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAAAGTGAAGCCTTGCTGGGT 0.498000 HNSCC(33;0.089) 53 55 0 0 1 0 0 SLC10A4 201780 broad.mit.edu 37 4 48490573 48490573 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr4:48490573G>A ENST00000273861.4 + 3 1150 c.931G>A c.(931-933)Ggc>Agc p.G311S NM_152679.3 NP_689892.1 Q96EP9 NTCP4_HUMAN solute carrier family 10, member 4 311 integral to membrane bile acid:sodium symporter activity central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 6 GCCTTTGGCAGGCTACGCTTC 0.468000 112 119 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25330355 25330355 + RNA SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr15:25330355G>A ENST00000546682.1 + 0 339 SNHG14_ENST00000549804.2_RNA NR_003361.1 GGCATAGAAGGAAGGCCAGTG 0.517000 5 6 0 0 1 0 0 PITPNM2 57605 broad.mit.edu 37 12 123479984 123479984 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr12:123479984G>A ENST00000280562.5 - 13 2211 c.2006C>T c.(2005-2007)tCc>tTc p.S669F PITPNM2_ENST00000542749.1_Missense_Mutation_p.S669F|PITPNM2_ENST00000392428.1_Missense_Mutation_p.S390F|PITPNM2_ENST00000320201.4_Missense_Mutation_p.S669F Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 669 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) CTCGTAGGTGGATGAGTCGCT 0.652000 36 64 0 0 1 0 0 CHTF18 63922 broad.mit.edu 37 16 846742 846742 + Missense_Mutation SNP C C G TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr16:846742C>G ENST00000317063.6 + 21 3109 c.3109C>G c.(3109-3111)Cct>Gct p.P1037A CHTF18_ENST00000262315.9_Missense_Mutation_p.P828A|CHTF18_ENST00000455171.2_Missense_Mutation_p.P856A Q8WVB6 CTF18_HUMAN CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) 828 cell cycle|DNA replication nucleus ATP binding|DNA binding|nucleoside-triphosphatase activity endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1) 11 Hepatocellular(780;0.00335) CTGCCGCTTCCCTGAGCTGCC 0.687000 25 20 0 0 1 0 0 OR8D2 283160 broad.mit.edu 37 11 124189313 124189313 + Missense_Mutation SNP T T G TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr11:124189313T>G ENST00000357438.2 - 1 871 c.781A>C c.(781-783)Aag>Cag p.K261Q NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) GAAGGGGGCTTGAAATACATG 0.438000 101 108 0 0 1 0 0 MIR4485 100616263 broad.mit.edu 37 MT 3091 3091 + RNA SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chrM:3091G>A ENST00000387347.2 + 0 1421 NR_039705.1 GGAGTAATCCAGGTCGGTTTC 0.453000 17 92 0 0 1 0 0 ZNF182 7569 broad.mit.edu 37 X 47861996 47861996 + Nonsense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chrX:47861996G>A ENST00000376943.3 - 3 298 c.13C>T c.(13-15)Cag>Tag p.Q5* ZNF182_ENST00000305127.6_5'UTR|ZNF182_ENST00000396965.1_5'UTR NM_001007088.1 NP_001007089.1 P17025 ZN182_HUMAN zinc finger protein 182 24 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1) 22 ATACTTACCTGGGGTTTGGCC 0.433000 18 5 0 0 1 0 0 RPE65 6121 broad.mit.edu 37 1 68906581 68906581 + Missense_Mutation SNP A A T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:68906581A>T ENST00000262340.5 - 6 651 c.598T>A c.(598-600)Ttt>Att p.F200I NM_000329.2 NP_000320.1 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 65kDa 200 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 35 GCAATTGAAAAATTTTTTCCA 0.388000 27 26 0 0 1 0 0 JAK1 3716 broad.mit.edu 37 1 65309857 65309857 + Nonsense_Mutation SNP C C A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:65309857C>A ENST00000342505.4 - 17 2541 c.2293G>T c.(2293-2295)Gag>Tag p.E765* JAK1_ENST00000465376.1_5'UTR NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 765 Protein kinase 1. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) TTGGAGTCCTCAACACACTCA 0.488000 Mis ALL 82 107 1.17954e-47 1.21348e-47 1 1 0 PRB2 653247 broad.mit.edu 37 12 11546699 11546699 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr12:11546699C>T ENST00000389362.4 - 3 348 c.313G>A c.(313-315)Gga>Aga p.G105R PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) GACTTGTCTCCTTGTGGGGGT 0.607000 298 607 0 0 1 0 0 ZNF678 339500 broad.mit.edu 37 1 227842965 227842965 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:227842965C>T ENST00000343776.4 + 4 1359 c.1014C>T c.(1012-1014)agC>agT p.S338S ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Silent_p.S393S F5GXA7 F5GXA7_HUMAN zinc finger protein 678 393 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) ACCTAAGTAGCCATAAGAGAA 0.373000 33 50 0 0 1 0 0 NPAS3 64067 broad.mit.edu 37 14 34269520 34269520 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr14:34269520C>T ENST00000346562.2 + 11 1985 c.1911C>T c.(1909-1911)ccC>ccT p.P637P NPAS3_ENST00000551492.1_Silent_p.P674P|NPAS3_ENST00000548645.1_Silent_p.P639P|NPAS3_ENST00000356141.4_Silent_p.P669P|NPAS3_ENST00000357798.5_Silent_p.P656P NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 669 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) ACTACCCGCCCAACCGGGAGA 0.622000 49 9 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20807307 20807307 + Missense_Mutation SNP C C T rs111831210 TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:20807307C>T ENST00000601440.1 - 4 1522 c.1376G>A c.(1375-1377)gGc>gAc p.G459D CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 459 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 AAAAGCTTTGCCACATTCTTC 0.393000 4 22 0 0 1 0 0 PACRG 135138 broad.mit.edu 37 6 163235288 163235288 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr6:163235288C>T ENST00000337019.3 + 3 490 c.266C>T c.(265-267)tCg>tTg p.S89L PACRG_ENST00000542669.1_3'UTR|PACRG_ENST00000366889.2_Missense_Mutation_p.S89L|PACRG_ENST00000366888.2_Missense_Mutation_p.S89L NM_152410.2 NP_689623.2 Q96M98 PACRG_HUMAN PARK2 co-regulated 89 endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203) OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242) GAGCATGATTCGAAAGGAAAC 0.517000 93 19 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170029612 170029612 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:170029612C>T ENST00000263816.3 - 57 11422 c.11137G>A c.(11137-11139)Ggc>Agc p.G3713S NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3713 LDL-receptor class A 30. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CTACCACAGCCTTGCTCATCA 0.498000 46 49 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142172059 142172059 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr3:142172059G>A ENST00000350721.4 - 46 7793 c.7672C>T c.(7672-7674)Cta>Tta p.L2558L ATR_ENST00000383101.3_Silent_p.L2494L NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 2558 PI3K/PI4K. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 GGATCATGTAGAAAAGTCTTT 0.353000 Other conserved DNA damage response genes 49 7 0 0 1 0 0 C2orf76 130355 broad.mit.edu 37 2 120078775 120078775 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:120078775G>A ENST00000409466.2 - 4 660 c.139C>T c.(139-141)Cct>Tct p.P47S C2orf76_ENST00000409877.1_Missense_Mutation_p.P47S|C2orf76_ENST00000334816.7_Missense_Mutation_p.P47S|C2orf76_ENST00000409523.1_Missense_Mutation_p.P47S Q3KRA6 CB076_HUMAN chromosome 2 open reading frame 76 47 large_intestine(1)|lung(3)|pancreas(1) 5 GTCCTTAAAGGGATATCTACA 0.274000 36 33 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13419020 13419020 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:13419020G>A ENST00000360228.5 - 14 1826 c.1827C>T c.(1825-1827)tcC>tcT p.S609S CACNA1A_ENST00000573710.2_Silent_p.S610S NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 610 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TGGACTTCATGGAGTTGAGGA 0.577000 24 26 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31305348 31305348 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr5:31305348C>T ENST00000265071.2 + 7 1332 c.1067C>T c.(1066-1068)cCa>cTa p.P356L CDH6_ENST00000514738.1_Missense_Mutation_p.P301L NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 356 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TATGTTGAGCCACGATTTCTC 0.468000 43 64 0 0 1 0 0 CHST4 10164 broad.mit.edu 37 16 71571304 71571304 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr16:71571304C>T ENST00000338482.5 + 3 1067 c.724C>T c.(724-726)Ccc>Tcc p.P242S CHST4_ENST00000539698.3_Missense_Mutation_p.P242S|RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000572450.1_Missense_Mutation_p.P242S|ZNF19_ENST00000568446.1_Intron Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 242 cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 21 GGAGGACCAACCCTACTATGT 0.542000 OREG0023923 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 38 0 0 1 0 0 NOL6 65083 broad.mit.edu 37 9 33467424 33467424 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr9:33467424G>A ENST00000379471.2 - 13 1780 c.1693C>T c.(1693-1695)Ctt>Ttt p.L565F NOL6_ENST00000455041.2_Missense_Mutation_p.L513F|NOL6_ENST00000464829.1_Intron Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 565 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) CCCAGCTCAAGGACGCTGGTC 0.607000 OREG0019137 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 5 0 0 1 0 0 DPPA5 340168 broad.mit.edu 37 6 74063752 74063752 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr6:74063752G>A ENST00000370370.3 - 2 185 c.116C>T c.(115-117)cCg>cTg p.P39L NM_001025290.2 NP_001020461.1 A6NC42 DPPA5_HUMAN developmental pluripotency associated 5 39 KH; atypical. multicellular organismal development cytoplasm RNA binding NS(1)|endometrium(1)|lung(5) 7 AGATCCGTCCGGGCCTGTTGG 0.612000 69 17 0 0 1 0 0 GFPT2 9945 broad.mit.edu 37 5 179755296 179755296 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr5:179755296C>T ENST00000253778.8 - 7 746 c.577G>A c.(577-579)Gga>Aga p.G193R NM_005110.2 NP_005101.1 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 193 Glutamine amidotransferase type-2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) ACGGCTTCTCCTGGGTAGTGG 0.527000 OREG0017113 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 52 76 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 71029629 71029629 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr12:71029629G>A ENST00000334414.6 - 2 317 c.273C>T c.(271-273)ccC>ccT p.P91P PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Silent_p.P90P|PTPRB_ENST00000550358.1_Silent_p.P91P NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 0 Fibronectin type-III 1. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGGTCCATCGGGGTGCCTGGG 0.547000 26 15 0 0 1 0 0 SCP2 6342 broad.mit.edu 37 1 53453763 53453763 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:53453763C>T ENST00000371514.3 + 11 1204 c.1036C>T c.(1036-1038)Cct>Tct p.P346S SCP2_ENST00000528311.1_Missense_Mutation_p.P265S|SCP2_ENST00000371513.5_Missense_Mutation_p.P302S|SCP2_ENST00000407246.2_Missense_Mutation_p.P322S|SCP2_ENST00000371509.4_Missense_Mutation_p.P302S NM_002979.4 NP_002970.2 P22307 NLTP_HUMAN sterol carrier protein 2 346 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport mitochondrion|nucleus|peroxisomal matrix propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 15 GGTCATAAATCCTAGTGGTGG 0.358000 31 37 0 0 1 0 0 MIR526B 574468 broad.mit.edu 37 19 54197669 54197669 + RNA SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:54197669G>A ENST00000384848.1 + 0 23 NR_030190.1 CCTCTTGAGGGAAGCACTTTC 0.388000 57 54 0 0 1 0 0 TRPC4AP 26133 broad.mit.edu 37 20 33594310 33594310 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr20:33594310G>A ENST00000252015.2 - 15 1844 c.1755C>T c.(1753-1755)ctC>ctT p.L585L TRPC4AP_ENST00000539834.1_Silent_p.L187L|TRPC4AP_ENST00000451813.1_Silent_p.L577L|TRPC4AP_ENST00000432634.2_Silent_p.L546L Q8TEL6 TP4AP_HUMAN transient receptor potential cation channel, subfamily C, member 4 associated protein 585 protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(18;0.00936) GCTCCCCCAGGAGGTCAAAGT 0.473000 46 54 0 0 1 0 0 THAP4 51078 broad.mit.edu 37 2 242572482 242572482 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:242572482C>T ENST00000407315.1 - 2 1521 c.1090G>A c.(1090-1092)Gag>Aag p.E364K NM_015963.5 NP_057047.4 Q8WY91 THAP4_HUMAN THAP domain containing 4 364 DNA binding|metal ion binding kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 9 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844) TCCACCTGCTCCCGCAGGCAG 0.627000 18 45 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24434973 24434973 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:24434973G>A ENST00000330966.7 - 2 316 c.154C>T c.(154-156)Cgc>Tgc p.R52C MYOM3_ENST00000374434.3_Missense_Mutation_p.R52C|MYOM3_ENST00000329601.7_Missense_Mutation_p.R52C Q5VTT5 MYOM3_HUMAN myomesin 3 52 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) CACCTGCTGCGGAAGGTCCGC 0.697000 3 13 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7699819 7699819 + Missense_Mutation SNP A A G TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr17:7699819A>G ENST00000572933.1 + 50 9172 c.7712A>G c.(7711-7713)aAt>aGt p.N2571S DNAH2_ENST00000389173.2_Missense_Mutation_p.N2571S Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2571 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) ACCATGATCAATCAGAAGCTT 0.547000 44 61 0 0 1 0 0 HAT1 8520 broad.mit.edu 37 2 172822971 172822971 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:172822971C>T ENST00000264108.4 + 7 689 c.653C>T c.(652-654)aCc>aTc p.T218I SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Missense_Mutation_p.T133I NM_003642.3 NP_003633.1 O14929 HAT1_HUMAN histone acetyltransferase 1 218 chromatin silencing at telomere|DNA packaging cytoplasm|nuclear matrix|nucleoplasm histone acetyltransferase activity|protein binding breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1) 19 OV - Ovarian serous cystadenocarcinoma(117;0.216) CTCTTTGCGACCGTAGGCTAC 0.443000 56 56 0 0 1 0 0 ST8SIA4 7903 broad.mit.edu 37 5 100231378 100231378 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr5:100231378G>A ENST00000231461.5 - 2 535 c.225C>T c.(223-225)tcC>tcT p.S75S ST8SIA4_ENST00000451528.2_Silent_p.S75S NM_005668.4 NP_005659.1 Q92187 SIA8D_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 75 axon guidance|N-glycan processing integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 25 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) GGACCAAAGAGGAATTGATTT 0.383000 41 55 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70486792 70486792 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:70486792G>A ENST00000310961.5 + 17 1844 c.1426G>A c.(1426-1428)Gaa>Aaa p.E476K LRRC7_ENST00000415775.2_Silent_p.T2T|RP11-181B18.1_ENST00000425754.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.E471K|RP11-181B18.1_ENST00000414132.1_RNA Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 471 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 AGAAGATGACGAAAATGCTGG 0.388000 30 52 0 0 1 0 0 RASSF9 9182 broad.mit.edu 37 12 86198613 86198613 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr12:86198613C>T ENST00000361228.3 - 2 1543 c.1175G>A c.(1174-1176)gGg>gAg p.G392E NM_005447.3 NP_005438.2 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 392 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AGGAATCTCCCCATTGCTACT 0.443000 83 92 0 0 1 0 0 TM7SF2 7108 broad.mit.edu 37 11 64880977 64880977 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr11:64880977G>A ENST00000279263.7 + 5 676 c.514G>A c.(514-516)Gac>Aac p.D172N TM7SF2_ENST00000540748.1_Missense_Mutation_p.D56N|TM7SF2_ENST00000345348.5_Missense_Mutation_p.D172N|TM7SF2_ENST00000531029.1_Intron NM_003273.2 NP_003264.2 O76062 ERG24_HUMAN transmembrane 7 superfamily member 2 172 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane delta14-sterol reductase activity lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TCCGATTTACGACTTTTTTCT 0.532000 OREG0021072 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 160 204 0 0 1 0 0 AAK1 22848 broad.mit.edu 37 2 69757182 69757182 + Missense_Mutation SNP G G C TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:69757182G>C ENST00000409085.4 - 8 1205 c.829C>G c.(829-831)Cct>Gct p.P277A AAK1_ENST00000406297.3_Missense_Mutation_p.P277A|AAK1_ENST00000409068.1_Missense_Mutation_p.P277A NM_014911.3 NP_055726.3 Q2M2I8 AAK1_HUMAN AP2 associated kinase 1 277 Protein kinase. coated pit|mitochondrion|plasma membrane ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1) 17 GAATTATCAGGAATTGTGAAG 0.313000 9 17 0 0 1 0 0 JPH4 84502 broad.mit.edu 37 14 24040638 24040638 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr14:24040638G>A ENST00000397118.3 - 6 2204 c.1302C>T c.(1300-1302)tcC>tcT p.S434S JPH4_ENST00000356300.4_Silent_p.S434S|JPH4_ENST00000544177.1_Silent_p.S99S NM_032452.2 NP_115828.2 Q96JJ6 JPH4_HUMAN junctophilin 4 434 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) GCTCCGTGTCGGAACCTTCTG 0.617000 30 9 0 0 1 0 0 ANKFN1 162282 broad.mit.edu 37 17 54534321 54534321 + Splice_Site SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr17:54534321G>A ENST00000566473.2 + 11 1316 c.1316_splice c.e11+1 p.R439_splice ANKFN1_ENST00000318698.2_Splice_Site_p.R439_splice Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 439 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 ACCTTAAAACGGTGGGTTCTA 0.383000 20 20 0 0 1 0 0 FBLN2 2199 broad.mit.edu 37 3 13612761 13612761 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr3:13612761G>A ENST00000404922.3 + 2 1025 c.906G>A c.(904-906)agG>agA p.R302R FBLN2_ENST00000295760.7_Silent_p.R302R|FBLN2_ENST00000535798.1_Silent_p.R328R|FBLN2_ENST00000492059.1_Silent_p.R302R NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 302 N.|Subdomain NB (Cys-free). proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) GTGGCCACAGGGGGCTGGATG 0.622000 9 0 0 0 1 0 0 SYT2 127833 broad.mit.edu 37 1 202566023 202566023 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:202566023G>A ENST00000367267.1 - 9 1314 c.1122C>T c.(1120-1122)atC>atT p.I374I SYT2_ENST00000367268.4_Silent_p.I374I NM_001136504.1 NP_001129976.1 Q8N9I0 SYT2_HUMAN synaptotagmin II 374 C2 2.|Phospholipid binding (By similarity). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) TGCCCACGAAGATCTTGCCTA 0.607000 47 59 0 0 1 0 0 ZDHHC8P1 150244 broad.mit.edu 37 22 23742697 23742697 + RNA SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr22:23742697C>T ENST00000255890.4 - 0 512 CAGGGAAGTCCAGGCTCGGCT 0.612000 13 19 0 0 1 0 0 ZNF205 7755 broad.mit.edu 37 16 3169293 3169293 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr16:3169293C>T ENST00000382192.3 + 7 837 c.632C>T c.(631-633)tCc>tTc p.S211F RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.S211F|RP11-473M20.14_ENST00000576490.1_RNA NM_001278158.1|NM_003456.2 NP_001265087.1|NP_003447.2 O95201 ZN205_HUMAN zinc finger protein 205 211 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 CAGACCTCATCCGTGGCAGCC 0.642000 49 50 0 0 1 0 0 COL27A1 85301 broad.mit.edu 37 9 116930345 116930345 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr9:116930345G>A ENST00000356083.3 + 3 901 c.510G>A c.(508-510)ctG>ctA p.L170L NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 170 Laminin G-like.|TSP N-terminal. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CAGTCACTCTGGTGACTGCCT 0.682000 55 5 0 0 1 0 0 SLC2A14 144195 broad.mit.edu 37 12 7970586 7970586 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr12:7970586C>T ENST00000543909.1 - 15 1944 c.1185G>A c.(1183-1185)ttG>ttA p.L395L SLC2A14_ENST00000431042.2_Silent_p.L372L|SLC2A14_ENST00000542546.1_Silent_p.L286L|SLC2A14_ENST00000396589.2_Silent_p.L395L|SLC2A14_ENST00000539924.1_Silent_p.L410L|SLC2A14_ENST00000535295.1_Silent_p.L286L|SLC2A14_ENST00000542505.1_Silent_p.L36L|SLC2A14_ENST00000340749.5_Silent_p.L372L Q8TDB8 GTR14_HUMAN solute carrier family 2 (facilitated glucose transporter), member 14 395 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) CCACAAAGACCAAGATAGCCC 0.488000 11 35 0 0 1 0 0 ICA1L 130026 broad.mit.edu 37 2 203682235 203682235 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:203682235G>A ENST00000392237.2 - 7 747 c.590C>T c.(589-591)tCt>tTt p.S197F ICA1L_ENST00000358299.2_Missense_Mutation_p.S197F NM_138468.4 NP_612477.3 Q8NDH6 ICA1L_HUMAN islet cell autoantigen 1,69kDa-like 197 AH. breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CTTGTCAAAAGAAGCTTTGCT 0.338000 34 54 0 0 1 0 0 MCC 4163 broad.mit.edu 37 5 112384984 112384984 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr5:112384984C>T ENST00000302475.4 - 14 2454 c.1891G>A c.(1891-1893)Gag>Aag p.E631K MCC_ENST00000408903.3_Missense_Mutation_p.E821K|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.E568K NM_002387.2 NP_002378.1 P23508 CRCM_HUMAN mutated in colorectal cancers 631 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) GCCTTCAACTCGGCCATCTCC 0.617000 15 12 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16967624 16967624 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr10:16967624G>A ENST00000377833.4 - 42 6486 c.6421C>T c.(6421-6423)Cca>Tca p.P2141S NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2141 CUB 15. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TCTCCATTTGGAATCTGGAAA 0.448000 25 5 0 0 1 0 0 KCTD8 386617 broad.mit.edu 37 4 44177004 44177004 + Missense_Mutation SNP T T A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr4:44177004T>A ENST00000360029.3 - 2 1508 c.1225A>T c.(1225-1227)Aac>Tac p.N409Y NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 409 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 AGTTCACTGTTTCTGCGTTTG 0.453000 HNSCC(17;0.042) 123 187 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11511565 11511565 + Missense_Mutation SNP A A C TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr17:11511565A>C ENST00000262442.3 + 2 605 c.537A>C c.(535-537)caA>caC p.Q179H DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.Q179H|DNAH9_ENST00000579828.1_Missense_Mutation_p.Q179H NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 179 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TACTTGAGCAAGTGAAGGGAA 0.502000 17 245 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150327191 150327191 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr7:150327191G>A ENST00000328902.5 - 2 256 c.40C>T c.(40-42)Ccc>Tcc p.P14S GIMAP6_ENST00000493969.1_Missense_Mutation_p.P14S NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 14 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCTTCTGGGGGATTCTCCTGG 0.423000 85 144 0 0 1 0 0 GABRA3 2556 broad.mit.edu 37 X 151366229 151366229 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chrX:151366229G>A ENST00000370314.4 - 8 1045 c.807C>T c.(805-807)ttC>ttT p.F269F GABRA3_ENST00000535043.1_Silent_p.F269F|GABRA3_ENST00000370311.1_Silent_p.F269F NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 269 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GCTTGAGATGGAAGTGGGTTG 0.413000 41 10 0 0 1 0 0 YIPF2 78992 broad.mit.edu 37 19 11038602 11038602 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:11038602G>A ENST00000586748.1 - 3 237 c.65C>T c.(64-66)aCc>aTc p.T22I YIPF2_ENST00000590329.1_Missense_Mutation_p.T22I|YIPF2_ENST00000253031.2_Missense_Mutation_p.T22I Q9BWQ6 YIPF2_HUMAN Yip1 domain family, member 2 22 integral to membrane|transport vesicle cervix(1)|endometrium(1)|lung(3)|ovary(2) 7 TGCATCTGGGGTGTCAGCCAG 0.597000 54 72 0 0 1 0 0 HSPA4L 22824 broad.mit.edu 37 4 128732660 128732660 + Missense_Mutation SNP C C T rs141362649 TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr4:128732660C>T ENST00000296464.3 + 12 1858 c.1447C>T c.(1447-1449)Cgt>Tgt p.R483C HSPA4L_ENST00000508776.1_Missense_Mutation_p.R483C|HSPA4L_ENST00000505726.1_Missense_Mutation_p.R457C|HSPA4L_ENST00000439123.2_Missense_Mutation_p.R514C NM_014278.2 NP_055093.2 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 483 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 GGTTAAAGTTCGTGTTAACAT 0.408000 25 53 0 0 1 0 0 THEG 51298 broad.mit.edu 37 19 371295 371295 + Silent SNP C C G TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:371295C>G ENST00000342640.4 - 6 705 c.663G>C c.(661-663)cgG>cgC p.R221R THEG_ENST00000346878.2_Silent_p.R197R NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 221 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCAGGGAGGACCGAGGAATGG 0.612000 88 157 0 0 1 0 0 GCG 2641 broad.mit.edu 37 2 163000624 163000624 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:163000624G>A ENST00000418842.2 - 5 703 c.449C>T c.(448-450)tCt>tTt p.S150F GCG_ENST00000375497.3_Missense_Mutation_p.S150F NM_002054.4 NP_002045.1 P01275 GLUC_HUMAN glucagon 150 cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion plasma membrane|soluble fraction hormone activity p.S150Y(2) breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9) 14 Exenatide(DB01276)|Phentolamine(DB00692) ATCAGAGAAAGAACCATCAGC 0.393000 39 68 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13769652 13769652 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr5:13769652C>T ENST00000265104.4 - 57 9782 c.9678G>A c.(9676-9678)gcG>gcA p.A3226A DNAH5_ENST00000504001.3_5'UTR NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3226 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCTTTTCTTTCGCTTCCAGTT 0.433000 Kartagener syndrome 104 120 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17023182 17023182 + RNA SNP C C G rs614461 by1000genomes TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:17023182C>G ENST00000492551.1 - 0 1681 NR_026567.1 CGGCAGCGGCCAATCGGGCTG 0.692000 12 38 0 0 1 0 0 RASA2 5922 broad.mit.edu 37 3 141326576 141326576 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr3:141326576G>A ENST00000286364.3 + 20 2025 c.1990G>A c.(1990-1992)Gaa>Aaa p.E664K RASA2_ENST00000452898.1_Missense_Mutation_p.E665K|RASA2_ENST00000509118.1_3'UTR Q15283 RASA2_HUMAN RAS p21 protein activator 2 664 PH. intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 34 GGAAAAACTGGAAGAGAGCTC 0.269000 15 4 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70714155 70714155 + RNA SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr14:70714155G>A ENST00000530196.1 - 0 363 NR_003951.1 ACCCTCATATGAACAACATGT 0.512000 63 107 0 0 1 0 0 ENPP6 133121 broad.mit.edu 37 4 185074772 185074772 + Missense_Mutation SNP C C G TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr4:185074772C>G ENST00000296741.2 - 2 497 c.356G>C c.(355-357)gGa>gCa p.G119A NM_153343.3 NP_699174.1 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 6 119 lipid catabolic process extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 15 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) AGGTTCTGATCCATTCCACCA 0.493000 35 47 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616503 77616503 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr8:77616503C>T ENST00000521891.2 + 2 628 c.180C>T c.(178-180)gcC>gcT p.A60A ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.A60A|ZFHX4_ENST00000518282.1_Silent_p.A60A|ZFHX4_ENST00000050961.6_Silent_p.A60A NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 60 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAAGTGAAGCCTTGCTGGGTT 0.493000 HNSCC(33;0.089) 55 57 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82545020 82545020 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr7:82545020G>A ENST00000423517.2 - 7 12619 c.12282C>T c.(12280-12282)ttC>ttT p.F4094F PCLO_ENST00000437081.1_Silent_p.F814F|PCLO_ENST00000333891.8_Silent_p.F4094F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4025 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AAGGTGCTAGGAAATCTGTCA 0.453000 15 16 0 0 1 0 0 LRFN1 57622 broad.mit.edu 37 19 39805230 39805230 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:39805230G>A ENST00000248668.4 - 1 746 c.747C>T c.(745-747)ttC>ttT p.F249F NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 249 cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GGTTGCCGCCGAAGCTGACGG 0.692000 7 16 0 0 1 0 0 SEMA4C 54910 broad.mit.edu 37 2 97532091 97532091 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:97532091C>T ENST00000305476.5 - 3 319 c.187G>A c.(187-189)Ggg>Agg p.G63R NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 63 Dominant negative effect on myogenic differentiation (By similarity).|Sema. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 TACAGAAGCCCAGTGGGCTCC 0.652000 82 82 0 0 1 0 0 B4GALNT4 338707 broad.mit.edu 37 11 380152 380152 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr11:380152G>A ENST00000329962.6 + 17 2665 c.2665G>A c.(2665-2667)Ggg>Agg p.G889R NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 889 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) GAGACGAACCGGGAACTTCGA 0.687000 14 25 0 0 1 0 0 KCNJ8 3764 broad.mit.edu 37 12 21919425 21919425 + Silent SNP G G A rs139304559 byFrequency TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr12:21919425G>A ENST00000240662.2 - 3 852 c.507C>T c.(505-507)atC>atT p.I169I RP11-59N23.1_ENST00000542489.1_RNA NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 169 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) TGACTGCATTGATGATCAAAC 0.458000 31 40 0 0 1 0 0 PCDHGB7 56099 broad.mit.edu 37 5 140798899 140798899 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr5:140798899C>T ENST00000398594.2 + 1 1473 c.1473C>T c.(1471-1473)ctC>ctT p.L491L PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018927.3 NP_061750.1 central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTACTCTCTCATTGCCAGCG 0.637000 49 69 0 0 1 0 0 RABGAP1L 9910 broad.mit.edu 37 1 174219700 174219700 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:174219700C>T ENST00000251507.4 + 6 979 c.805C>T c.(805-807)Ccc>Tcc p.P269S RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.P232S NM_014857.4 NP_055672.3 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like 269 PID. regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2) 45 TATTCCTACCCCCGACAGTGA 0.383000 33 58 0 0 1 0 0 NINJ2 4815 broad.mit.edu 37 12 675055 675055 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr12:675055G>A ENST00000433832.2 - 2 415 c.215C>T c.(214-216)cCc>cTc p.P72L NINJ2_ENST00000542920.1_Intron|NINJ2_ENST00000537416.1_5'UTR|NINJ2_ENST00000305108.4_Intron|NINJ2_ENST00000397265.3_Intron Q9NZG7 NINJ2_HUMAN ninjurin 2 0 nervous system development|neuron cell-cell adhesion|tissue regeneration integral to plasma membrane large_intestine(3)|lung(1)|ovary(2) 6 all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185) OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508) GGACACGTGGGGCCTTTCTGC 0.632000 11 18 0 0 1 0 0 HERC2P2 400322 broad.mit.edu 37 15 23300079 23300079 + RNA SNP T T G rs417713 by1000genomes TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr15:23300079T>G ENST00000560464.1 - 0 4208 GTGCTGCACGTTGACAGGCGT 0.607000 4 34 0 0 1 0 0 CYP4A22 284541 broad.mit.edu 37 1 47606502 47606502 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:47606502C>T ENST00000371891.3 + 2 277 c.246C>T c.(244-246)ttC>ttT p.F82F CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Silent_p.F82F|CYP4A22_ENST00000294337.3_Silent_p.F82F|CYP4A22_ENST00000485117.1_3'UTR NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 82 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGAAGACATTCCCAAGTGCCT 0.478000 69 84 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6219720 6219720 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr12:6219720G>A ENST00000261405.5 - 5 606 c.352C>T c.(352-354)Ctg>Ttg p.L118L VWF_ENST00000572068.1_Silent_p.L155L NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 118 VWFD 1. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) TCTAGATACAGCCCTTTGGAG 0.532000 43 82 0 0 1 0 0 TTC37 9652 broad.mit.edu 37 5 94830395 94830395 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr5:94830395G>A ENST00000358746.2 - 36 4091 c.3793C>T c.(3793-3795)Ctt>Ttt p.L1265F NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 1265 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 CCTGGAGAAAGGAGAGCTGCC 0.353000 95 131 0 0 1 0 0 TRBV5-4 28611 broad.mit.edu 37 7 142168459 142168459 + RNA SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr7:142168459G>A ENST00000454561.2 - 0 464 TATCATTAGGGAACTGGAGAC 0.537000 72 87 0 0 1 0 0 ATP6V0D2 245972 broad.mit.edu 37 8 87151851 87151851 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr8:87151851C>T ENST00000285393.3 + 3 610 c.468C>T c.(466-468)atC>atT p.I156I CTD-3118D11.2_ENST00000522679.1_RNA NM_152565.1 NP_689778.1 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 156 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex hydrogen ion transmembrane transporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1) 27 CCATTCTGATCGAAACGCCAT 0.418000 55 76 0 0 1 0 0 EMILIN3 90187 broad.mit.edu 37 20 39990834 39990834 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr20:39990834C>T ENST00000332312.3 - 4 1567 c.1375G>A c.(1375-1377)Ggg>Agg p.G459R NM_052846.1 NP_443078.1 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 459 proteinaceous extracellular matrix biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) CCCCACCCCCCCATGTCCAAC 0.632000 101 89 0 0 1 0 0 DLGAP3 58512 broad.mit.edu 37 1 35370718 35370718 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:35370718G>A ENST00000373347.1 - 3 535 c.267C>T c.(265-267)ttC>ttT p.F89F DLGAP3_ENST00000235180.4_Silent_p.F89F O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 89 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) ACATCCTGGGGAAGGTGCTGC 0.692000 5 9 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89979602 89979602 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr5:89979602C>T ENST00000405460.2 + 28 5960 c.5864C>T c.(5863-5865)tCc>tTc p.S1955F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1955 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CTCAGTGTTTCCAGTGGTTCT 0.433000 26 28 0 0 1 0 0 PTBP3 9991 broad.mit.edu 37 9 115024777 115024777 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr9:115024777G>A ENST00000334318.6 - 6 733 c.547C>T c.(547-549)Cct>Tct p.P183S PTBP3_ENST00000458258.1_Missense_Mutation_p.P186S|PTBP3_ENST00000374257.1_Missense_Mutation_p.P152S|PTBP3_ENST00000374255.2_Missense_Mutation_p.P180S|PTBP3_ENST00000343327.2_Missense_Mutation_p.P85S|PTBP3_ENST00000487997.1_5'UTR NM_001163790.2|NM_005156.6 NP_001157262.1|NP_005147.3 O95758 ROD1_HUMAN polypyrimidine tract binding protein 3 180 RRM 2. anatomical structure morphogenesis|mRNA processing nucleus nucleotide binding|RNA binding CGAAGCACAGGGCTCTGCCCA 0.478000 71 17 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42795740 42795740 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:42795740C>T ENST00000572681.2 + 12 5524 c.5456C>T c.(5455-5457)cCc>cTc p.P1819L CIC_ENST00000160740.3_Missense_Mutation_p.P910L|CIC_ENST00000575354.2_Missense_Mutation_p.P910L Q96RK0 CIC_HUMAN capicua transcriptional repressor 910 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CAGGCCCCGCCCCCGGGTGGC 0.642000 """Mis, F, S""" oligodendroglioma 146 211 0 0 1 0 0 ADAM12 8038 broad.mit.edu 37 10 127755288 127755288 + Nonsense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr10:127755288G>A ENST00000368679.4 - 13 1729 c.1420C>T c.(1420-1422)Cag>Tag p.Q474* ADAM12_ENST00000368676.4_Nonsense_Mutation_p.Q474*|ADAM12_ENST00000467145.1_5'UTR NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 474 Disintegrin. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) TGACTCACCTGGCAGTCTTCA 0.572000 45 9 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41051174 41051174 + Missense_Mutation SNP T T C TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr5:41051174T>C ENST00000399564.4 - 13 1699 c.1249A>G c.(1249-1251)Aac>Gac p.N417D MROH2B_ENST00000506092.2_5'UTR NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TCATGAAAGTTAGTTTTCACT 0.433000 16 18 0 0 1 0 0 GFAP 2670 broad.mit.edu 37 17 42992473 42992473 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr17:42992473C>T ENST00000253408.5 - 1 447 c.382G>A c.(382-384)Gat>Aat p.D128N GFAP_ENST00000435360.2_Missense_Mutation_p.D128N|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.D128N NM_002055.4 NP_002046.1 P14136 GFAP_HUMAN glial fibrillary acidic protein 128 Coil 1B.|Rod. cytoplasm|intermediate filament structural constituent of cytoskeleton endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 Prostate(33;0.0959) GTGAGTTGATCGAGCCGCAGC 0.652000 37 32 0 0 1 0 0 KRTAP24-1 643803 broad.mit.edu 37 21 31655131 31655131 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr21:31655131G>A ENST00000340345.4 - 1 145 c.120C>T c.(118-120)agC>agT p.S40S NM_001085455.1 NP_001078924.1 Q3LI83 KR241_HUMAN keratin associated protein 24-1 40 keratin filament structural molecule activity breast(1)|large_intestine(3)|lung(7)|urinary_tract(3) 14 CAAAGGTAGGGCTTAAATCAC 0.473000 40 54 0 0 1 0 0 USP7 7874 broad.mit.edu 37 16 9010994 9010994 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr16:9010994G>A ENST00000344836.4 - 7 938 c.740C>T c.(739-741)aCc>aTc p.T247I USP7_ENST00000381886.4_Missense_Mutation_p.T231I|USP7_ENST00000535863.1_Missense_Mutation_p.T148I NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 247 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 ATCCCCCTCGGTTGGCATCAT 0.348000 87 96 0 0 1 0 0 BSND 7809 broad.mit.edu 37 1 55473906 55473906 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:55473906G>A ENST00000371265.4 + 4 822 c.568G>A c.(568-570)Ggc>Agc p.G190S NM_057176.2 NP_476517.1 Q8WZ55 BSND_HUMAN Bartter syndrome, infantile, with sensorineural deafness (Barttin) 190 basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 CTGTCCCCAGGGCCCTGCCCC 0.592000 18 36 0 0 1 0 0 TOP2A 7153 broad.mit.edu 37 17 38569054 38569054 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr17:38569054G>A ENST00000423485.1 - 7 904 c.746C>T c.(745-747)tCc>tTc p.S249F NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 249 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) ATCTTTGGTGGATCCAGCAAT 0.358000 20 15 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117667814 117667814 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr11:117667814C>T ENST00000321322.6 - 1 162 c.161G>A c.(160-162)aGa>aAa p.R54K NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 0 Ig-like C2-type 1. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AGGCCCTATTCTCCGGGGAGG 0.692000 18 20 0 0 1 0 0 LRTM2 654429 broad.mit.edu 37 12 1943583 1943583 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr12:1943583C>T ENST00000543818.1 + 5 1651 c.809C>T c.(808-810)aCc>aTc p.T270I LRTM2_ENST00000299194.1_Missense_Mutation_p.T270I|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000543730.1_3'UTR|LRTM2_ENST00000535041.1_Missense_Mutation_p.T270I NM_001039029.2|NM_001163925.1|NM_001163926.1 NP_001034118.1|NP_001157397.1|NP_001157398.1 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 270 integral to membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 20 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) CCACCCTGCACCAAGGCCAGT 0.647000 30 24 0 0 1 0 0 WIPF3 644150 broad.mit.edu 37 7 29924127 29924127 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr7:29924127G>A ENST00000409290.1 + 4 1017 c.1017G>A c.(1015-1017)aaG>aaA p.K339K WIPF3_ENST00000409123.1_Silent_p.K339K|WIPF3_ENST00000242140.5_Silent_p.K339K NM_001080529.2 NP_001073998.2 B8ZZV2 B8ZZV2_HUMAN WAS/WASL interacting protein family, member 3 339 breast(2)|large_intestine(3)|lung(6)|ovary(1) 12 CACCGCAGAAGGCCGGTGCGC 0.672000 4 2 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784829 82784829 + Silent SNP A A T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr7:82784829A>T ENST00000423517.2 - 2 1465 c.1128T>A c.(1126-1128)acT>acA p.T376T PCLO_ENST00000333891.8_Silent_p.T376T NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 336 Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TCTCTGACCCAGTCTGCTGAG 0.587000 6 79 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18872527 18872527 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr12:18872527C>T ENST00000447925.2 - 5 670 c.401G>A c.(400-402)aGa>aAa p.R134K PLCZ1_ENST00000435379.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000541695.1_5'UTR|PLCZ1_ENST00000266505.7_Missense_Mutation_p.R136K NM_033123.2 NP_149114.2 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 136 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) ATCCATGTATCTTGTAAAACC 0.254000 13 26 0 0 1 0 0 GK5 256356 broad.mit.edu 37 3 141904626 141904626 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr3:141904626G>A ENST00000544571.1 - 10 956 c.826C>T c.(826-828)Cct>Tct p.P276S GK5_ENST00000392993.2_Intron Q6ZS86 GLPK5_HUMAN glycerol kinase 5 (putative) 0 glycerol metabolic process ATP binding|glycerol kinase activity kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1) 10 TCATATCCAGGGACCTTTAAC 0.323000 14 3 0 0 1 0 0 SEMA3E 9723 broad.mit.edu 37 7 82997054 82997054 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr7:82997054C>T ENST00000307792.3 - 17 2643 c.2176G>A c.(2176-2178)Gaa>Aaa p.E726K SEMA3E_ENST00000427262.1_Missense_Mutation_p.E666K NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 726 axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) CAGTATTCTTCCACTCTCTGG 0.463000 83 194 0 0 1 0 0 SNAP25 6616 broad.mit.edu 37 20 10286841 10286841 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr20:10286841G>A ENST00000254976.2 + 8 828 c.617G>A c.(616-618)gGt>gAt p.G206D SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000495883.1_3'UTR|SNAP25_ENST00000304886.2_Missense_Mutation_p.G206D NM_130811.2 NP_570824.1 P60880 SNP25_HUMAN synaptosomal-associated protein, 25kDa 206 energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 18 Botulinum Toxin Type A(DB00083) CTGGGAAGTGGTTAAGTGTGC 0.458000 26 28 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85741318 85741318 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr4:85741318G>A ENST00000322366.6 - 12 2020 c.1613C>T c.(1612-1614)tCa>tTa p.S538L WDFY3_ENST00000295888.4_Missense_Mutation_p.S538L Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 538 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) GTCTTCAACTGAACTATTATT 0.338000 104 166 0 0 1 0 0 VRTN 55237 broad.mit.edu 37 14 74823854 74823854 + Missense_Mutation SNP T T G TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr14:74823854T>G ENST00000256362.4 + 2 609 c.368T>G c.(367-369)aTg>aGg p.M123R NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 123 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 CTCCAGGGCATGATCGACTCC 0.642000 27 22 0 0 1 0 0 JPH4 84502 broad.mit.edu 37 14 24040639 24040639 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr14:24040639G>A ENST00000397118.3 - 6 2203 c.1301C>T c.(1300-1302)tCc>tTc p.S434F JPH4_ENST00000356300.4_Missense_Mutation_p.S434F|JPH4_ENST00000544177.1_Missense_Mutation_p.S99F NM_032452.2 NP_115828.2 Q96JJ6 JPH4_HUMAN junctophilin 4 434 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) CTCCGTGTCGGAACCTTCTGA 0.617000 31 9 0 0 1 0 0 WWC3 55841 broad.mit.edu 37 X 10094257 10094257 + Nonsense_Mutation SNP A A T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chrX:10094257A>T ENST00000380861.4 + 15 2408 c.2017A>T c.(2017-2019)Aga>Tga p.R673* WWC3_ENST00000454666.1_Nonsense_Mutation_p.R673* NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 673 C2. NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 CGAAGTGTTCAGAATCCCCGT 0.547000 146 40 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 42080588 42080588 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr21:42080588G>A ENST00000400454.1 - 2 630 c.153C>T c.(151-153)atC>atT p.I51I NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 51 Ig-like C2-type 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TCACAGGAGGGATGCCTGCTG 0.587000 62 99 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162307376 162307376 + Missense_Mutation SNP G G T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr4:162307376G>T ENST00000306100.5 - 16 2503 c.2067C>A c.(2065-2067)ttC>ttA p.F689L FSTL5_ENST00000379164.4_Missense_Mutation_p.F688L|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000427802.2_Missense_Mutation_p.F679L|FSTL5_ENST00000536695.1_Missense_Mutation_p.F688L NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 689 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CATCACTATTGAACCCAATGA 0.488000 19 94 8.10497e-08 8.16205e-08 1 1 0 MYH8 4626 broad.mit.edu 37 17 10298460 10298460 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr17:10298460C>T ENST00000403437.2 - 34 5046 c.4952G>A c.(4951-4953)gGa>gAa p.G1651E CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1651 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CTTCAGGATTCCTTGGGTGTT 0.443000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 98 145 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82545021 82545021 + Missense_Mutation SNP A A T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr7:82545021A>T ENST00000423517.2 - 7 12618 c.12281T>A c.(12280-12282)tTc>tAc p.F4094Y PCLO_ENST00000437081.1_Missense_Mutation_p.F814Y|PCLO_ENST00000333891.8_Missense_Mutation_p.F4094Y NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4025 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AGGTGCTAGGAAATCTGTCAC 0.458000 15 16 0 0 1 0 0 GLRB 2743 broad.mit.edu 37 4 157999217 157999217 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr4:157999217C>T ENST00000264428.4 + 2 311 c.41C>T c.(40-42)tCc>tTc p.S14F GLRB_ENST00000512619.1_Missense_Mutation_p.S14F|GLRB_ENST00000541722.1_Missense_Mutation_p.S14F|GLRB_ENST00000509282.1_Missense_Mutation_p.S14F NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 14 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) ATTTTAATTTCCTTGTGGGTG 0.338000 20 24 0 0 1 0 0 ZNF404 342908 broad.mit.edu 37 19 44378101 44378101 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:44378101C>T ENST00000587539.1 - 3 264 c.265G>A c.(265-267)Gac>Aac p.D89N ZNF404_ENST00000324394.6_Missense_Mutation_p.D87N NM_001033719.2 NP_001028891.2 Q494X3 ZN404_HUMAN zinc finger protein 404 89 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1) 17 Prostate(69;0.0352) TACTGTGGGTCAGTTCTGAAA 0.333000 80 133 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43608537 43608537 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr22:43608537C>T ENST00000360835.3 - 17 2241 c.2115G>A c.(2113-2115)gtG>gtA p.V705V NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 705 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) GGTACGTGCCCACGGGGCAGG 0.662000 5 5 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106431422 106431422 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr8:106431422G>A ENST00000407775.2 + 2 341 c.91G>A c.(91-93)Gaa>Aaa p.E31K ZFPM2_ENST00000520492.1_5'UTR NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 31 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TCCATCAGAGGAAACAGACAT 0.423000 43 41 0 0 1 0 0 DYRK4 8798 broad.mit.edu 37 12 4702298 4702298 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr12:4702298G>A ENST00000540757.2 + 4 409 c.249G>A c.(247-249)acG>acA p.T83T DYRK4_ENST00000010132.5_Silent_p.T83T|DYRK4_ENST00000543431.1_Silent_p.T83T NM_003845.1 NP_003836.1 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 83 Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(7;0.103) TTAGCAAGACGAGTTTTGATG 0.522000 30 33 0 0 1 0 0 BDKRB2 624 broad.mit.edu 37 14 96706581 96706581 + Translation_Start_Site SNP A A T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr14:96706581A>T ENST00000542454.2 + 0 2923 BDKRB2_ENST00000554311.1_Intron|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000306005.3_Intron|BDKRB2_ENST00000539359.1_Intron P30411 BKRB2_HUMAN bradykinin receptor B2 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) CAGGGGAGTCAGGTGCACTGG 0.587000 10 80 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29052363 29052363 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr18:29052363G>A ENST00000257189.4 + 13 2097 c.2014G>A c.(2014-2016)Gaa>Aaa p.E672K NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 672 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GTGGGGAATTGAAGGAGCCCA 0.423000 27 37 0 0 1 0 0 KLHL40 131377 broad.mit.edu 37 3 42733407 42733407 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr3:42733407C>T ENST00000287777.4 + 6 1888 c.1788C>T c.(1786-1788)gtC>gtT p.V596V NM_152393.2 NP_689606.2 kelch-like family member 40 GGGAGGGTGTCCTGCGGGAGA 0.562000 67 15 0 0 1 0 0 CIB4 130106 broad.mit.edu 37 2 26806672 26806672 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:26806672C>T ENST00000288861.4 - 5 476 c.423G>A c.(421-423)atG>atA p.M141I CIB4_ENST00000405346.3_5'UTR NM_001029881.1 NP_001025052.1 A0PJX0 CIB4_HUMAN calcium and integrin binding family member 4 141 EF-hand 3. calcium ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCGTGAGGTCCATCAGGAGGT 0.572000 51 72 0 0 1 0 0 KCNMB2 10242 broad.mit.edu 37 3 178546007 178546007 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr3:178546007C>T ENST00000432997.1 + 4 621 c.269C>T c.(268-270)tCc>tTc p.S90F RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000358316.3_Missense_Mutation_p.S90F|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.S90F|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.S90F|RP11-385J1.2_ENST00000451742.1_RNA NM_005832.3 NP_005823.1 Q9Y691 KCMB2_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 2 90 detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction voltage-gated potassium channel complex calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 12 all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125) OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841) CTGAATGCGTCCATCACGGAA 0.493000 66 13 0 0 1 0 0 BTNL8 79908 broad.mit.edu 37 5 180377187 180377187 + Silent SNP G G T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr5:180377187G>T ENST00000340184.4 + 8 1352 c.1146G>T c.(1144-1146)ctG>ctT p.L382L BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000533815.2_Silent_p.L198L|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000511704.1_Silent_p.L266L|BTNL8_ENST00000400707.3_Silent_p.L257L|BTNL8_ENST00000505126.1_Silent_p.L175L NM_001040462.2 NP_001035552.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 382 B30.2/SPRY. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCCTCAGACTGAATGGAGAAC 0.498000 58 65 7.06795e-37 7.25395e-37 1 1 0 EPN1 29924 broad.mit.edu 37 19 56196873 56196873 + Missense_Mutation SNP C C G TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:56196873C>G ENST00000411543.2 + 4 1220 c.673C>G c.(673-675)Cgc>Ggc p.R225G EPN1_ENST00000591743.1_3'UTR|EPN1_ENST00000270460.6_Missense_Mutation_p.R114G|EPN1_ENST00000085079.7_Missense_Mutation_p.R114G NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 114 endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding p.R114S(1)|p.R225S(1) endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) GTACGTGGACCGCGACGGCAA 0.647000 15 25 0 0 1 0 0 FIBIN 387758 broad.mit.edu 37 11 27016585 27016585 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr11:27016585C>T ENST00000318627.2 + 1 958 c.512C>T c.(511-513)tCc>tTc p.S171F NM_203371.1 NP_976249.1 Q8TAL6 FIBIN_HUMAN fin bud initiation factor homolog (zebrafish) 171 extracellular region|Golgi apparatus breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1) 11 CACACCAGGTCCCTGCTGAAG 0.597000 43 57 0 0 1 0 0 RFPL1S 10740 broad.mit.edu 37 22 29833664 29833664 + RNA SNP A A T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr22:29833664A>T ENST00000461286.2 - 0 4712 NR_002727.2 CTTCCGCACAAGACCTGAGCG 0.542000 13 13 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141625327 141625327 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:141625327G>A ENST00000389484.3 - 27 5382 c.4411C>T c.(4411-4413)Cat>Tat p.H1471Y NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1471 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) GCAAAGGGATGGGAAAGGTAT 0.428000 TSP Lung(27;0.18) 54 56 0 0 1 0 0 RABGAP1L 9910 broad.mit.edu 37 1 174219699 174219699 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:174219699C>T ENST00000251507.4 + 6 978 c.804C>T c.(802-804)acC>acT p.T268T RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Silent_p.T231T NM_014857.4 NP_055672.3 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like 268 PID. regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2) 45 TTATTCCTACCCCCGACAGTG 0.378000 33 58 0 0 1 0 0 ZNF276 92822 broad.mit.edu 37 16 89789952 89789952 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr16:89789952G>A ENST00000289816.5 + 4 928 c.616G>A c.(616-618)Gat>Aat p.D206N ZNF276_ENST00000446326.2_Silent_p.G77G|ZNF276_ENST00000443381.2_Missense_Mutation_p.D281N|ZNF276_ENST00000568064.1_Silent_p.G199G NM_152287.3 NP_689500.2 Q8N554 ZN276_HUMAN zinc finger protein 276 281 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1) 14 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) GAACCCTGGGGATGCCCCTCA 0.662000 30 26 0 0 1 0 0 SMTN 6525 broad.mit.edu 37 22 31487256 31487256 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr22:31487256C>T ENST00000333137.7 + 10 1465 c.1247C>T c.(1246-1248)cCc>cTc p.P416L SMTN_ENST00000358743.1_Missense_Mutation_p.P416L|SMTN_ENST00000347557.2_Missense_Mutation_p.P416L NM_001207018.1|NM_134269.2 NP_001193947.1|NP_599031.1 P53814 SMTN_HUMAN smoothelin 416 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 GAGGAGGGCCCCAGGGGGCGG 0.701000 5 12 0 0 1 0 0 PHLPP1 23239 broad.mit.edu 37 18 60582234 60582234 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr18:60582234C>T ENST00000400316.4 + 9 3042 c.1261C>T c.(1261-1263)Cct>Tct p.P421S PHLPP1_ENST00000262719.5_Missense_Mutation_p.P933S NM_194449.3 NP_919431.2 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein phosphatase 1 933 apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(2)|lung(13) 17 ATGTGAACTTCCTGCCCGGTG 0.373000 17 16 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32745285 32745285 + Missense_Mutation SNP A A G TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr13:32745285A>G ENST00000380250.3 + 18 2525 c.2029A>G c.(2029-2031)Atg>Gtg p.M677V NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 677 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) AGTAAATGATATGCATCACAC 0.448000 50 63 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52379590 52379590 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr3:52379590G>A ENST00000420323.2 + 10 1785 c.1524G>A c.(1522-1524)gaG>gaA p.E508E NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 508 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CACGGCCAGAGGTCATCACGG 0.602000 7 0 0 0 1 0 0 PATL1 219988 broad.mit.edu 37 11 59423436 59423436 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr11:59423436C>T ENST00000300146.9 - 7 890 c.806G>A c.(805-807)gGa>gAa p.G269E NM_152716.2 NP_689929.2 Q86TB9 PATL1_HUMAN protein associated with topoisomerase II homolog 1 (yeast) 269 Pro-rich.|Region N; interaction with decapping machinery. cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body protein binding|RNA binding central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2) 11 TACCTGTGCTCCTCCAAGAAG 0.443000 3 18 0 0 1 0 0 ZNF592 9640 broad.mit.edu 37 15 85326436 85326436 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr15:85326436C>T ENST00000299927.3 + 1 552 c.530C>T c.(529-531)gCt>gTt p.A177V ZNF592_ENST00000560079.2_Missense_Mutation_p.A177V Q92610 ZN592_HUMAN zinc finger protein 592 177 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) GGGTGCGGGGCTGTGGGAGGC 0.517000 92 136 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126411653 126411653 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr4:126411653C>T ENST00000394329.3 + 17 13689 c.13676C>T c.(13675-13677)cCt>cTt p.P4559L FAT4_ENST00000335110.5_Missense_Mutation_p.P2800L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4559 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P4502H(1)|p.P4559H(1) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TTTGATGACCCTGACAATATC 0.468000 38 63 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31324822 31324822 + Silent SNP T T C TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr18:31324822T>C ENST00000269197.5 + 12 5010 c.5010T>C c.(5008-5010)tcT>tcC p.S1670S NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1670 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CTGTGAAATCTGAACTTCACG 0.488000 5 87 0 0 1 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6051580 6051580 + Missense_Mutation SNP A A G TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr4:6051580A>G ENST00000409021.3 - 15 2377 c.1928T>C c.(1927-1929)cTt>cCt p.L643P JAKMIP1_ENST00000409371.3_Missense_Mutation_p.L458P NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 416 protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TTTCTTCATAAGTTCAGAAAC 0.428000 25 22 0 0 1 0 0 SEMA7A 8482 broad.mit.edu 37 15 74709990 74709990 + Silent SNP G G A rs142309393 byFrequency TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr15:74709990G>A ENST00000261918.4 - 5 1040 c.492C>T c.(490-492)ggC>ggT p.G164G SEMA7A_ENST00000543145.2_Silent_p.G150G|SEMA7A_ENST00000542748.1_5'UTR NM_003612.3 NP_003603.1 O75326 SEM7A_HUMAN semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) 164 Sema. axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response anchored to membrane|external side of plasma membrane receptor activity breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 30 CTCTCATCTCGCCAAGTGGCA 0.612000 25 38 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196740510 196740510 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:196740510G>A ENST00000312428.6 - 38 6275 c.6175C>T c.(6175-6177)Ccc>Tcc p.P2059S NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2059 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AACTCAATGGGAGGTTGAGCC 0.403000 44 39 0 0 1 0 0 RBM42 79171 broad.mit.edu 37 19 36124044 36124044 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:36124044C>T ENST00000262633.4 + 6 679 c.574C>T c.(574-576)Ctc>Ttc p.L192F RBM42_ENST00000586618.1_Intron|RBM42_ENST00000589871.1_Missense_Mutation_p.L170F|RBM42_ENST00000589559.1_Missense_Mutation_p.L163F|RBM42_ENST00000588161.1_Missense_Mutation_p.L162F|RBM42_ENST00000592202.1_Missense_Mutation_p.L138F|RBM42_ENST00000360475.4_Missense_Mutation_p.L163F NM_024321.3 NP_077297.2 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 192 Pro-rich. cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1) 21 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) TCACCAGGCCCTCGTGGGCCC 0.706000 119 140 0 0 1 0 0 GATA1 2623 broad.mit.edu 37 X 48652655 48652655 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chrX:48652655C>T ENST00000376665.3 + 6 1077 c.985C>T c.(985-987)Ccc>Tcc p.P329S GATA1_ENST00000376670.3_3'UTR P15976 GATA1_HUMAN GATA binding protein 1 (globin transcription factor 1) 0 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1) 283 GTCTCTGGGCCCCAGGCACCC 0.532000 """Mis, F""" megakaryoblastic leukemia of Downs Syndrome 11 5 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42635229 42635229 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr20:42635229C>T ENST00000358131.5 + 3 443 c.235C>T c.(235-237)Ccc>Tcc p.P79S TOX2_ENST00000423191.1_Missense_Mutation_p.P28S|TOX2_ENST00000341197.3_Missense_Mutation_p.P70S|TOX2_ENST00000372999.1_Missense_Mutation_p.P28S NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 79 Required for transcriptional activation (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) CTATGAGATCCCCCCGATAAC 0.582000 44 69 0 0 1 0 0 CHRNA9 55584 broad.mit.edu 37 4 40351137 40351137 + Nonsense_Mutation SNP G G T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr4:40351137G>T ENST00000310169.2 + 4 743 c.604G>T c.(604-606)Gaa>Taa p.E202* NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 202 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) TGAAGATGTGGAATGGGAGGT 0.512000 153 147 1.9257e-63 1.98587e-63 1 1 0 CLCA4 22802 broad.mit.edu 37 1 87025615 87025615 + Splice_Site SNP G G T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:87025615G>T ENST00000370563.3 + 2 202 c.159_splice c.e2-1 p.D54_splice CLCA4_ENST00000263723.5_5'UTR NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 54 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) TTAATGACAGGATATGGTGAC 0.348000 19 86 7.45023e-12 7.5559e-12 1 1 0 PARM1 25849 broad.mit.edu 37 4 75938153 75938153 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr4:75938153G>A ENST00000307428.7 + 2 774 c.562G>A c.(562-564)Gga>Aga p.G188R RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron NM_015393.3 NP_056208.2 Q6UWI2 PARM1_HUMAN prostate androgen-regulated mucin-like protein 1 188 positive regulation of telomerase activity early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane cervix(1)|endometrium(2)|lung(4)|ovary(1) 8 CCAACCCACTGGAGCTCCAAC 0.567000 141 153 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128488930 128488930 + Missense_Mutation SNP T T G TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr7:128488930T>G ENST00000325888.8 + 28 5082 c.4821T>G c.(4819-4821)agT>agG p.S1607R FLNC_ENST00000346177.6_Missense_Mutation_p.S1607R NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1607 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 CGGACATGAGTGGCCGGTACA 0.602000 79 67 0 0 1 0 0 VSTM1 284415 broad.mit.edu 37 19 54545604 54545604 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:54545604G>A ENST00000338372.2 - 5 589 c.414C>T c.(412-414)gtC>gtT p.V138V VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Intron|VSTM1_ENST00000366170.2_Silent_p.V50V NM_198481.3 NP_940883.2 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 138 integral to membrane breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) TGAAGATGGCGACAAAGATGG 0.532000 21 27 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141457909 141457909 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:141457909C>T ENST00000389484.3 - 41 7680 c.6709G>A c.(6709-6711)Ggt>Agt p.G2237S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2237 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.G2237R(1) 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) CGGTTGGTACCTTTTCTTCTT 0.348000 TSP Lung(27;0.18) 69 74 0 0 1 0 0 C15orf41 84529 broad.mit.edu 37 15 36983917 36983917 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr15:36983917G>A ENST00000566621.1 + 6 628 c.378G>A c.(376-378)cgG>cgA p.R126R C15orf41_ENST00000567389.1_Silent_p.R28R|C15orf41_ENST00000437989.2_Silent_p.R126R|C15orf41_ENST00000338183.4_Silent_p.R28R|C15orf41_ENST00000569302.1_Silent_p.R126R|C15orf41_ENST00000562877.1_Silent_p.R28R NM_001130010.1 NP_001123482.1 Q9Y2V0 CO041_HUMAN chromosome 15 open reading frame 41 126 protein binding kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222) all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11) GTATGCTACGGGACCCTTCTC 0.398000 7 10 0 0 1 0 0 IDO2 169355 broad.mit.edu 37 8 39872921 39872921 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr8:39872921G>A ENST00000502986.2 + 11 1305 c.1063G>A c.(1063-1065)Gag>Aag p.E355K IDO2_ENST00000389060.4_Missense_Mutation_p.E342K|IDO2_ENST00000343295.4_3'UTR NM_194294.2 NP_919270.2 Q6ZQW0 I23O2_HUMAN indoleamine 2,3-dioxygenase 2 342 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 18 GGCCCTGGCAGAGCTGCGGAG 0.547000 31 33 0 0 1 0 0 IGHV4-28 28400 broad.mit.edu 37 14 106780757 106780757 + RNA SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr14:106780757G>A ENST00000390612.2 - 0 178 GAGGGACAGGGTGTCCGAAGG 0.627000 44 83 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32624370 32624370 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr21:32624370C>T ENST00000286827.3 - 6 1570 c.1099G>A c.(1099-1101)Ggc>Agc p.G367S TIAM1_ENST00000541036.1_Missense_Mutation_p.G367S|TIAM1_ENST00000469412.1_5'UTR NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 367 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CTGTCGCTGCCCACAAAGGCC 0.642000 107 149 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24350570 24350570 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr8:24350570G>A ENST00000175238.6 + 16 1753 c.1670G>A c.(1669-1671)gGa>gAa p.G557E ADAM7_ENST00000520720.1_Missense_Mutation_p.G329E|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.G557E NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 557 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) GTCAGATGTGGAAAGATCTAC 0.448000 32 35 0 0 1 0 0 APOL4 80832 broad.mit.edu 37 22 36587498 36587498 + Silent SNP G G T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr22:36587498G>T ENST00000332987.1 - 7 1091 c.669C>A c.(667-669)ccC>ccA p.P223P APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000352371.1_Silent_p.P226P Q9BPW4 APOL4_HUMAN apolipoprotein L, 4 227 R -> H (in dbSNP:rs2227168). lipid metabolic process|lipid transport|lipoprotein metabolic process extracellular region lipid binding lung(1) 1 AAAGCACATTGGGTGTGATGT 0.473000 31 32 2.61193e-14 2.65526e-14 1 1 0 DNAH5 1767 broad.mit.edu 37 5 13769624 13769624 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr5:13769624C>T ENST00000265104.4 - 57 9810 c.9706G>A c.(9706-9708)Gat>Aat p.D3236N DNAH5_ENST00000504001.3_5'UTR NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3236 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCGGCTTTATCGTTGGCCACT 0.418000 Kartagener syndrome 89 98 0 0 1 0 0 CD200R1 131450 broad.mit.edu 37 3 112648265 112648265 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr3:112648265C>T ENST00000471858.1 - 3 455 c.223G>A c.(223-225)Gaa>Aaa p.E75K CD200R1_ENST00000490004.1_Missense_Mutation_p.E75K|CD200R1_ENST00000440122.2_Missense_Mutation_p.E98K|CD200R1_ENST00000308611.3_Missense_Mutation_p.E98K|CD200R1_ENST00000295863.4_Missense_Mutation_p.E53K NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 75 Ig-like V-type. interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 AGGATTATTTCCCATGTTATT 0.413000 69 5 0 0 1 0 0 CATSPER1 117144 broad.mit.edu 37 11 65787838 65787838 + Missense_Mutation SNP C C T rs12720434 TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr11:65787838C>T ENST00000312106.5 - 8 2151 c.2014G>A c.(2014-2016)Gat>Aat p.D672N NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 672 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 TGGAAGCTATCCACCAGGACA 0.612000 65 128 0 0 1 0 0 IRX6 79190 broad.mit.edu 37 16 55361531 55361531 + Silent SNP C C T rs34343392 TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr16:55361531C>T ENST00000290552.7 + 4 1779 c.447C>T c.(445-447)cgC>cgT p.R149R RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 149 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 GCGCCGGTCGCCGAAAGAACG 0.572000 21 22 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966562 41966562 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr12:41966562G>A ENST00000298919.7 + 10 1589 c.1201G>A c.(1201-1203)Gga>Aga p.G401R PDZRN4_ENST00000539469.2_Missense_Mutation_p.G403R|PDZRN4_ENST00000402685.2_Missense_Mutation_p.G661R Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 661 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) GGAGCAAGAGGGAGTGGAGCA 0.453000 32 35 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74274453 74274453 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr4:74274453G>A ENST00000295897.4 + 4 502 c.413G>A c.(412-414)cGa>cAa p.R138Q ALB_ENST00000509063.1_Missense_Mutation_p.R138Q|ALB_ENST00000415165.2_Intron|ALB_ENST00000503124.1_Intron|ALB_ENST00000401494.3_Intron|ALB_ENST00000505649.1_3'UTR NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 138 Albumin 1. R -> G (in Yanomama-2). bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) AACCTCCCCCGATTGGTGAGA 0.398000 18 17 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1081807 1081807 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr11:1081807G>A ENST00000441003.2 + 13 1762 c.1735G>A c.(1735-1737)Gag>Aag p.E579K MUC2_ENST00000359061.5_Missense_Mutation_p.E579K NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 579 VWFD 2. inner mucus layer|outer mucus layer protein binding p.E579Q(2) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CCTGAACATCGAGAGCGGTGA 0.662000 27 33 0 0 1 0 0 CARF 79800 broad.mit.edu 37 2 203846897 203846897 + Missense_Mutation SNP A A G TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:203846897A>G ENST00000320443.8 + 15 2835 c.1792A>G c.(1792-1794)Ata>Gta p.I598V WDR12_ENST00000477723.1_Intron|CARF_ENST00000402905.2_Missense_Mutation_p.I598V|CARF_ENST00000414439.1_Missense_Mutation_p.I496V|CARF_ENST00000545253.1_Missense_Mutation_p.I510V|CARF_ENST00000438828.2_Missense_Mutation_p.I598V|CARF_ENST00000428585.1_Missense_Mutation_p.I522V|CARF_ENST00000545262.1_Missense_Mutation_p.I522V calcium responsive transcription factor TCTGGATACAATAGGAAGTGC 0.418000 24 55 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126758424 126758424 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr5:126758424C>T ENST00000274473.6 + 14 1920 c.1653C>T c.(1651-1653)caC>caT p.H551H MEGF10_ENST00000508365.1_Silent_p.H551H|MEGF10_ENST00000418761.2_Silent_p.H551H|MEGF10_ENST00000503335.2_Silent_p.H551H NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 551 EGF-like 10.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) ATGGCTGCCACCCTACCACGG 0.587000 19 51 0 0 1 0 0 PDE1B 5153 broad.mit.edu 37 12 54971042 54971042 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr12:54971042C>T ENST00000243052.3 + 15 1977 c.1541C>T c.(1540-1542)tCc>tTc p.S514F PDE1B_ENST00000538346.1_Missense_Mutation_p.S473F|PDE1B_ENST00000550620.1_Missense_Mutation_p.S494F|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000394277.3_3'UTR NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 514 activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 GACGAGCTGTCCCCCTGTGAA 0.552000 111 105 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10542883 10542883 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr17:10542883C>T ENST00000583535.1 - 23 3006 c.2919G>A c.(2917-2919)gaG>gaA p.E973E MYH3_ENST00000226209.7_Silent_p.E973E NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 973 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 ATACCTTGTTCTCTGTGGCAT 0.398000 110 171 0 0 1 0 0 PLCH2 9651 broad.mit.edu 37 1 2435743 2435743 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:2435743C>T ENST00000419816.2 + 22 3616 c.3342C>T c.(3340-3342)ccC>ccT p.P1114P PLCH2_ENST00000378488.3_Silent_p.P1078P|PLCH2_ENST00000378483.2_3'UTR|PLCH2_ENST00000449969.1_3'UTR|PLCH2_ENST00000378486.3_Silent_p.P1114P O75038 PLCH2_HUMAN phospholipase C, eta 2 1114 intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) TGGCCGCTCCCTTTCCAGCTC 0.692000 15 14 0 0 1 0 0 YIPF2 78992 broad.mit.edu 37 19 11038601 11038601 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:11038601G>A ENST00000586748.1 - 3 238 c.66C>T c.(64-66)acC>acT p.T22T YIPF2_ENST00000590329.1_Silent_p.T22T|YIPF2_ENST00000253031.2_Silent_p.T22T Q9BWQ6 YIPF2_HUMAN Yip1 domain family, member 2 22 integral to membrane|transport vesicle cervix(1)|endometrium(1)|lung(3)|ovary(2) 7 CTGCATCTGGGGTGTCAGCCA 0.602000 54 73 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 100141879 100141879 + Silent SNP C C A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr11:100141879C>A ENST00000524871.1 + 18 2510 c.2220C>A c.(2218-2220)ccC>ccA p.P740P CNTN5_ENST00000528682.1_Silent_p.P740P|CNTN5_ENST00000418526.2_Silent_p.P666P|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Silent_p.P740P|CNTN5_ENST00000279463.3_Silent_p.P740P NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 740 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) ACCTAAATCCCTGGGTGGAAT 0.453000 31 36 9.04072e-19 9.21251e-19 1 1 0 DCUN1D4 23142 broad.mit.edu 37 4 52752763 52752763 + Missense_Mutation SNP A A T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr4:52752763A>T ENST00000334635.5 + 6 553 c.373A>T c.(373-375)Atg>Ttg p.M125L DCUN1D4_ENST00000381441.3_Missense_Mutation_p.M125L|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.M65L|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.M169L NM_001040402.1 NP_001035492.1 Q92564 DCNL4_HUMAN DCN1, defective in cullin neddylation 1, domain containing 4 125 DCUN1. endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1) 9 GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654) CCCTGAAGGCATGGAGAAATT 0.363000 43 62 0 0 1 0 0 BCAM 4059 broad.mit.edu 37 19 45324025 45324025 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:45324025C>T ENST00000270233.6 + 14 1849 c.1827C>T c.(1825-1827)ctC>ctT p.L609L NM_001013257.2|NM_005581.4 NP_001013275.1|NP_005572.2 P50895 BCAM_HUMAN basal cell adhesion molecule (Lutheran blood group) 609 cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) CCGGCCTTCTCATGGGAGGTG 0.731000 3 4 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50168634 50168634 + Silent SNP G G A rs150358448 TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr15:50168634G>A ENST00000284509.6 - 25 3009 c.2868C>T c.(2866-2868)ttC>ttT p.F956F ATP8B4_ENST00000559829.1_Silent_p.F956F NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 956 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.F956F(1) breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) ACACGCAAATGAAAAATTTAC 0.458000 29 42 0 0 1 0 0 PTBP3 9991 broad.mit.edu 37 9 115024776 115024776 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr9:115024776G>A ENST00000334318.6 - 6 734 c.548C>T c.(547-549)cCt>cTt p.P183L PTBP3_ENST00000458258.1_Missense_Mutation_p.P186L|PTBP3_ENST00000374257.1_Missense_Mutation_p.P152L|PTBP3_ENST00000374255.2_Missense_Mutation_p.P180L|PTBP3_ENST00000343327.2_Missense_Mutation_p.P85L|PTBP3_ENST00000487997.1_5'UTR NM_001163790.2|NM_005156.6 NP_001157262.1|NP_005147.3 O95758 ROD1_HUMAN polypyrimidine tract binding protein 3 180 RRM 2. anatomical structure morphogenesis|mRNA processing nucleus nucleotide binding|RNA binding TCGAAGCACAGGGCTCTGCCC 0.478000 71 17 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62299326 62299326 + Missense_Mutation SNP T T C TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr11:62299326T>C ENST00000378024.4 - 5 2837 c.2563A>G c.(2563-2565)Aaa>Gaa p.K855E AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 855 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) TTGGCACTTTTAAGTTCAACA 0.443000 170 233 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20944734 20944734 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr16:20944734C>T ENST00000261383.3 - 62 12092 c.12093G>A c.(12091-12093)acG>acA p.T4031T DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 4031 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CAATCTGCATCGTTTTCCTGT 0.507000 57 74 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2182173 2182173 + Silent SNP A A T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr9:2182173A>T ENST00000382203.1 + 31 4601 c.4392A>T c.(4390-4392)ctA>ctT p.L1464L SMARCA2_ENST00000357248.2_Silent_p.L1446L|SMARCA2_ENST00000382186.1_Silent_p.L128L|SMARCA2_ENST00000382185.1_Silent_p.L110L|SMARCA2_ENST00000324954.5_Silent_p.L110L|SMARCA2_ENST00000302401.3_Silent_p.L152L|SMARCA2_ENST00000382194.1_Silent_p.L1446L|SMARCA2_ENST00000349721.2_Silent_p.L1464L P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 1464 Bromo. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) ACCGGAGCCTAGGCGACCTGG 0.433000 78 16 0 0 1 0 0 FCGR1A 2209 broad.mit.edu 37 1 149762969 149762969 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:149762969C>T ENST00000369168.4 + 6 1075 c.1021C>T c.(1021-1023)Ctt>Ttt p.L341F RP11-196G18.3_ENST00000428289.1_RNA|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron NM_000566.3 NP_000557.1 P12314 FCGR1_HUMAN Fc fragment of IgG, high affinity Ia, receptor (CD64) 341 interferon-gamma-mediated signaling pathway|phagocytosis, engulfment integral to membrane|plasma membrane IgG binding|receptor activity|receptor signaling protein activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2) 10 Breast(34;0.0124)|all_hematologic(923;0.127) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AATTTCCAGCCTTCAAGAAGA 0.443000 32 44 0 0 1 0 0 SETD3 84193 broad.mit.edu 37 14 99927678 99927678 + Splice_Site SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr14:99927678C>T ENST00000331768.5 - 4 356 c.e4-1 SETD3_ENST00000436070.2_Splice_Site|SETD3_ENST00000329331.3_Splice_Site|SETD3_ENST00000453938.1_Intron NM_032233.2 NP_115609.2 Q86TU7 SETD3_HUMAN SET domain containing 3 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866) ACGGACAGACCTATATTAATC 0.373000 55 59 0 0 1 0 0 ATP5F1 515 broad.mit.edu 37 1 111996918 111996918 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:111996918C>T ENST00000369722.3 + 3 769 c.163C>T c.(163-165)Cgt>Tgt p.R55C ATP5F1_ENST00000483994.1_Intron|ATP5F1_ENST00000369721.4_Intron NM_001688.4 NP_001679.2 P24539 AT5F1_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 55 ATP catabolic process|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding p.R55C(1) breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 8 all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) AGGAAAAGTTCGTTATGGACT 0.438000 67 97 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73849751 73849751 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr8:73849751G>A ENST00000523207.1 + 3 2749 c.2161G>A c.(2161-2163)Gaa>Aaa p.E721K NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 721 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GAACTTTAAGGAAAATAGAGG 0.527000 114 143 0 0 1 0 0 MEGF11 84465 broad.mit.edu 37 15 66416254 66416254 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr15:66416254G>A ENST00000395625.2 - 3 323 c.59C>T c.(58-60)tCa>tTa p.S20L MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000360698.4_Silent_p.F61F|MEGF11_ENST00000409699.2_Silent_p.F61F|MEGF11_ENST00000422354.1_Silent_p.F61F|MEGF11_ENST00000288745.3_Missense_Mutation_p.S20L A6BM72 MEG11_HUMAN multiple EGF-like-domains 11 0 basolateral plasma membrane|integral to membrane breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 19 TGGTGCACTTGAACCAGTTGA 0.532000 31 42 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56388469 56388469 + Missense_Mutation SNP A A C TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:56388469A>C ENST00000301295.6 + 8 3055 c.2633A>C c.(2632-2634)gAt>gCt p.D878A NLRP4_ENST00000587891.1_Missense_Mutation_p.D803A|NLRP4_ENST00000346986.5_Missense_Mutation_p.D822A NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 878 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GAAATCGGAGATGTGGGTGTG 0.488000 67 115 0 0 1 0 0 SETD3 84193 broad.mit.edu 37 14 99932055 99932055 + Missense_Mutation SNP T T C TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr14:99932055T>C ENST00000331768.5 - 2 247 c.88A>G c.(88-90)Agt>Ggt p.S30G SETD3_ENST00000436070.2_Missense_Mutation_p.S30G|SETD3_ENST00000329331.3_Missense_Mutation_p.S30G|SETD3_ENST00000453938.1_5'UTR NM_032233.2 NP_115609.2 Q86TU7 SETD3_HUMAN SET domain containing 3 30 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866) AGCAGCTCACTGGTCAGGTTC 0.493000 29 41 0 0 1 0 0 B3GALT1 8708 broad.mit.edu 37 2 168726366 168726366 + Nonsense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:168726366C>T ENST00000305861.1 + 2 1168 c.817C>T c.(817-819)Cga>Tga p.R273* AC016723.4_ENST00000430546.1_RNA|B3GALT1_ENST00000392690.2_Nonsense_Mutation_p.R273*|AC016723.4_ENST00000436982.2_RNA NM_020981.3 NP_066191.1 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 273 lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 ACTGTGTCTTCGAAAGCTGGG 0.463000 55 49 0 0 1 0 0 CTSC 1075 broad.mit.edu 37 11 88068216 88068216 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr11:88068216C>T ENST00000524463.1 - 2 295 c.207G>A c.(205-207)caG>caA p.Q69Q CTSC_ENST00000227266.5_Silent_p.Q69Q|CTSC_ENST00000393301.4_5'UTR|CTSC_ENST00000529974.1_Silent_p.Q69Q NM_001114173.1|NM_148170.3 NP_001107645.1|NP_680475.1 P53634 CATC_HUMAN cathepsin C 69 Missing (in PLS). immune response lysosome cysteine-type endopeptidase activity large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2) 22 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TATCCAGCTTCTGAAGGTACA 0.363000 62 10 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48655877 48655877 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr17:48655877C>T ENST00000352832.5 + 9 2625 c.2253C>T c.(2251-2253)atC>atT p.I751I CACNA1G_ENST00000502264.1_Silent_p.I751I|CACNA1G_ENST00000514181.1_Silent_p.I751I|CACNA1G_ENST00000359106.5_Silent_p.I751I|CACNA1G_ENST00000515765.1_Silent_p.I751I|CACNA1G_ENST00000512389.1_Silent_p.I751I|CACNA1G_ENST00000515411.1_Silent_p.I751I|CACNA1G_ENST00000515165.1_Silent_p.I751I|CACNA1G_ENST00000510366.1_Silent_p.I751I|CACNA1G_ENST00000507510.2_Silent_p.I751I|CACNA1G_ENST00000514717.1_Silent_p.I751I|CACNA1G_ENST00000510115.1_Silent_p.I751I|CACNA1G_ENST00000513689.2_Silent_p.I751I|CACNA1G_ENST00000503485.1_Silent_p.I751I|CACNA1G_ENST00000513964.1_Silent_p.I751I|CACNA1G_ENST00000507609.1_Silent_p.I751I|CACNA1G_ENST00000514079.1_Silent_p.I751I|CACNA1G_ENST00000507336.1_Silent_p.I751I|CACNA1G_ENST00000429973.2_Silent_p.I751I|CACNA1G_ENST00000358244.5_Silent_p.I751I|CACNA1G_ENST00000442258.2_Silent_p.I751I|CACNA1G_ENST00000354983.4_Silent_p.I751I|CACNA1G_ENST00000416767.4_Silent_p.I751I|CACNA1G_ENST00000505165.1_Silent_p.I751I|CACNA1G_ENST00000507896.1_Silent_p.I751I|CACNA1G_ENST00000360761.4_Silent_p.I751I NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 751 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GAATCATGATCGCCATCCTGG 0.577000 37 63 0 0 1 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140762830 140762830 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr5:140762830G>A ENST00000518325.1 + 1 364 c.364G>A c.(364-366)Gaa>Aaa p.E122K PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TATAGACGTGGAAATAATAGA 0.403000 74 71 0 0 1 0 0 ANKRD17 26057 broad.mit.edu 37 4 73956716 73956716 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr4:73956716C>T ENST00000358602.4 - 29 6745 c.6629G>A c.(6628-6630)aGa>aAa p.R2210K ANKRD17_ENST00000330838.6_Missense_Mutation_p.R1959K|ANKRD17_ENST00000509867.2_Missense_Mutation_p.R2097K NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 2210 interspecies interaction between organisms cytoplasm|nucleus RNA binding p.R2210T(1) NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ACTGTGAGGTCTTTTAATGTG 0.458000 75 111 0 0 1 0 0 ITIH1 3697 broad.mit.edu 37 3 52817260 52817260 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr3:52817260G>A ENST00000273283.2 + 10 1154 c.1130G>A c.(1129-1131)gGa>gAa p.G377E ITIH1_ENST00000537050.1_Missense_Mutation_p.G89E|ITIH1_ENST00000542827.1_Missense_Mutation_p.G377E|ITIH1_ENST00000540715.1_Missense_Mutation_p.G235E NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 377 VWFA. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) TTGCTCCGGGGAATTGAGATC 0.507000 50 7 0 0 1 0 0 MAN2A1 4124 broad.mit.edu 37 5 109065199 109065199 + Missense_Mutation SNP A A G TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr5:109065199A>G ENST00000261483.4 + 4 1744 c.692A>G c.(691-693)aAg>aGg p.K231R NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 231 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) ATTCAGAAGAAGGATGCTGTT 0.313000 41 91 0 0 1 0 0 C2orf62 375307 broad.mit.edu 37 2 219222261 219222261 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:219222261G>A ENST00000289388.3 + 3 152 c.123G>A c.(121-123)aaG>aaA p.K41K AC021016.8_ENST00000411433.1_RNA NM_198559.1 NP_940961.1 Q7Z7H3 CB062_HUMAN chromosome 2 open reading frame 62 41 endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Renal(207;0.0915) Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCCCAGACAAGGAGGAGCTAC 0.602000 19 21 0 0 1 0 0 OR5T3 390154 broad.mit.edu 37 11 56020522 56020522 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr11:56020522G>A ENST00000303059.3 + 1 847 c.847G>A c.(847-849)Gga>Aga p.G283R NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) AATTTATCATGGAACAATTCT 0.398000 49 97 0 0 1 0 0 ST8SIA4 7903 broad.mit.edu 37 5 100231379 100231379 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr5:100231379G>A ENST00000231461.5 - 2 534 c.224C>T c.(223-225)tCc>tTc p.S75F ST8SIA4_ENST00000451528.2_Missense_Mutation_p.S75F NM_005668.4 NP_005659.1 Q92187 SIA8D_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 75 axon guidance|N-glycan processing integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 25 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) GACCAAAGAGGAATTGATTTT 0.378000 40 55 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186673435 186673435 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:186673435G>A ENST00000343098.5 + 17 19669 c.19669G>A c.(19669-19671)Gat>Aat p.D6557N FSIP2_ENST00000424728.1_Missense_Mutation_p.D6468N NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 TTTTCCATTAGATACAATTAA 0.308000 34 42 0 0 1 0 0 TRIM56 81844 broad.mit.edu 37 7 100732093 100732093 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr7:100732093G>A ENST00000306085.6 + 3 1797 c.1500G>A c.(1498-1500)cgG>cgA p.R500R NM_030961.1 NP_112223.1 Q9BRZ2 TRI56_HUMAN tripartite motif containing 56 500 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(181;0.136)|all_lung(186;0.182) TCCCCACGCGGATGCCTGGAG 0.647000 91 144 0 0 1 0 0 IL1RL1 9173 broad.mit.edu 37 2 102956661 102956661 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:102956661G>A ENST00000311734.2 + 4 715 c.376G>A c.(376-378)Gaa>Aaa p.E126K IL1RL1_ENST00000409584.1_Missense_Mutation_p.E126K|IL1RL1_ENST00000233954.1_Missense_Mutation_p.E126K|IL1RL1_ENST00000404917.2_Missense_Mutation_p.E9K|IL1RL1_ENST00000393393.3_Missense_Mutation_p.E126K Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 126 Ig-like C2-type 2. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 ATCTGGATCAGAAAAAAATTC 0.343000 24 35 0 0 1 0 0 LRRC1 55227 broad.mit.edu 37 6 53761687 53761687 + Silent SNP T T C TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr6:53761687T>C ENST00000370888.1 + 6 841 c.564T>C c.(562-564)aaT>aaC p.N188N NM_018214.4 NP_060684.4 Q9BTT6 LRRC1_HUMAN leucine rich repeat containing 1 188 cytoplasm|membrane cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Lung NSC(77;0.0147) BRCA - Breast invasive adenocarcinoma(397;0.0745) AAATATATAATTTGGTAAGTC 0.308000 42 37 0 0 1 0 0 LGI2 55203 broad.mit.edu 37 4 25005729 25005729 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr4:25005729C>T ENST00000382114.4 - 8 1167 c.982G>A c.(982-984)Gac>Aac p.D328N NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 328 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) AGCTCGATGTCATTGGGCTTG 0.458000 93 109 0 0 1 0 0 AIM2 9447 broad.mit.edu 37 1 159038358 159038358 + Splice_Site SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:159038358C>T ENST00000368130.4 - 3 684 c.396_splice c.e3+1 p.K132_splice AIM2_ENST00000481829.1_5'UTR NM_004833.1 NP_004824.1 O14862 AIM2_HUMAN absent in melanoma 2 132 cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) CTTATCCTACCTTAACATGAG 0.453000 34 47 0 0 1 0 0 ESAM 90952 broad.mit.edu 37 11 124623816 124623816 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr11:124623816C>T ENST00000278927.5 - 7 1028 c.899G>A c.(898-900)aGc>aAc p.S300N ESAM_ENST00000442070.2_Intron NM_138961.2 NP_620411.2 Q96AP7 ESAM_HUMAN endothelial cell adhesion molecule 300 blood coagulation|leukocyte migration adherens junction|integral to membrane|tight junction endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022) TGTGTCTGAGCTCTTGGGCCA 0.597000 36 2 0 0 1 0 0 CSRP2 1466 broad.mit.edu 37 12 77257053 77257053 + Missense_Mutation SNP A A T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr12:77257053A>T ENST00000311083.5 - 3 307 c.184T>A c.(184-186)Tac>Aac p.Y62N CSRP2_ENST00000547435.1_Missense_Mutation_p.Y62N|CSRP2_ENST00000546966.1_Missense_Mutation_p.Y62N|CSRP2_ENST00000552330.1_Missense_Mutation_p.Y62N NM_001321.1 NP_001312.1 Q16527 CSRP2_HUMAN cysteine and glycine-rich protein 2 62 multicellular organismal development nucleus zinc ion binding kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1) 8 TTCTTTCCGTAGCAGGATTTG 0.493000 38 36 0 0 1 0 0 GPC3 2719 broad.mit.edu 37 X 132833921 132833921 + Splice_Site SNP A A C TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chrX:132833921A>C ENST00000370818.3 - 4 1612 c.e4+1 GPC3_ENST00000543339.1_Splice_Site|GPC3_ENST00000394299.2_Splice_Site NM_001164618.1|NM_004484.3 NP_001158090.1|NP_004475.1 P51654 GPC3_HUMAN glypican 3 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2) 36 Acute lymphoblastic leukemia(192;0.000127) GAAACCTCTCACCTTCTTCGG 0.299000 """T, D, Mis, N, F, S""" Wilms tumour Simpson-Golabi-Behmel syndrome 24 6 0 0 1 0 0 NPC1 4864 broad.mit.edu 37 18 21141474 21141474 + Missense_Mutation SNP G G A rs141243713 byFrequency TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr18:21141474G>A ENST00000269228.5 - 5 1035 c.481C>T c.(481-483)Cgg>Tgg p.R161W NPC1_ENST00000540608.1_5'UTR NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 161 autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) TCCACATCCCGGCAGGCATTG 0.493000 95 82 0 0 1 0 0 ZEB2 9839 broad.mit.edu 37 2 145147408 145147408 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:145147408C>T ENST00000558170.2 - 10 4439 c.3255G>A c.(3253-3255)gcG>gcA p.A1085A ZEB2_ENST00000539609.3_Silent_p.A1061A|ZEB2_ENST00000409487.3_Silent_p.A1085A|ZEB2_ENST00000303660.4_Silent_p.A1085A NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 1085 Glu-rich (acidic). cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) CCCGCTCCTCCGCCTCCCGCT 0.592000 70 63 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23862667 23862667 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr14:23862667C>T ENST00000405093.3 - 23 3059 c.2989G>A c.(2989-2991)Gag>Aag p.E997K MYH6_ENST00000356287.3_Missense_Mutation_p.E997K NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 997 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GCTTTCTTCTCCTTGGTCAGC 0.512000 102 16 0 0 1 0 0 CRYBB1 1414 broad.mit.edu 37 22 27003979 27003979 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr22:27003979G>A ENST00000215939.2 - 4 436 c.306C>T c.(304-306)gtC>gtT p.V102V NM_001887.3 NP_001878.1 P53674 CRBB1_HUMAN crystallin, beta B1 102 Beta/gamma crystallin 'Greek key' 2. visual perception structural constituent of eye lens breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4) 31 GCTCAAAGGCGACCCAGCTGG 0.572000 23 61 0 0 1 0 0 E2F8 79733 broad.mit.edu 37 11 19259605 19259605 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr11:19259605G>A ENST00000527884.1 - 3 322 c.90C>T c.(88-90)atC>atT p.I30I E2F8_ENST00000250024.4_Silent_p.I30I|RP11-428C19.4_ENST00000527978.1_RNA NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 30 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CTGCCAACACGATATTTGCTG 0.453000 36 70 0 0 1 0 0 WNT3 7473 broad.mit.edu 37 17 44845874 44845874 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr17:44845874C>T ENST00000225512.5 - 4 1042 c.880G>A c.(880-882)Ggc>Agc p.G294S NM_030753.4 NP_110380.1 P56703 WNT3_HUMAN wingless-type MMTV integration site family, member 3 294 canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|signal transducer activity endometrium(2)|large_intestine(6)|lung(4)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(9;0.0257) TCCCTTGTGCCAAAGGAACCC 0.602000 69 118 0 0 1 0 0 ZEB2 9839 broad.mit.edu 37 2 145147407 145147407 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:145147407C>T ENST00000558170.2 - 10 4440 c.3256G>A c.(3256-3258)Gag>Aag p.E1086K ZEB2_ENST00000539609.3_Missense_Mutation_p.E1062K|ZEB2_ENST00000409487.3_Missense_Mutation_p.E1086K|ZEB2_ENST00000303660.4_Missense_Mutation_p.E1086K NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 1086 Glu-rich (acidic). cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) TCCCGCTCCTCCGCCTCCCGC 0.592000 72 62 0 0 1 0 0 BTN3A1 11119 broad.mit.edu 37 6 26413772 26413772 + Missense_Mutation SNP A A G TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr6:26413772A>G ENST00000289361.6 + 10 1762 c.1394A>G c.(1393-1395)gAc>gGc p.D465G BTN3A1_ENST00000414912.2_Missense_Mutation_p.D413G NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 465 B30.2/SPRY. lipid metabolic process integral to membrane breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 GTCTTCCTGGACTATGAGACT 0.468000 88 95 0 0 1 0 0 PCDHB15 56121 broad.mit.edu 37 5 140625626 140625626 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr5:140625626G>A ENST00000231173.3 + 1 480 c.480G>A c.(478-480)ttG>ttA p.L160L NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 160 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCGGGACTTGGACGTGGGCA 0.463000 61 50 0 0 1 0 0 C11orf35 256329 broad.mit.edu 37 11 556900 556900 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr11:556900C>T ENST00000329451.3 - 8 973 c.911G>A c.(910-912)cGg>cAg p.R304Q NM_173573.2 NP_775844.2 Q8IXW0 CK035_HUMAN chromosome 11 open reading frame 35 304 NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1) 8 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCGGTGGTCCCGGGGCGGGTG 0.687000 5 9 0 0 1 0 0 B4GALNT4 338707 broad.mit.edu 37 11 380153 380153 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr11:380153G>A ENST00000329962.6 + 17 2666 c.2666G>A c.(2665-2667)gGg>gAg p.G889E NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 889 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGACGAACCGGGAACTTCGAG 0.692000 14 25 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43433643 43433643 + RNA SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:43433643C>T ENST00000406070.2 - 0 756 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) TCACTGGGTTCCGTATTTCAC 0.502000 284 273 0 0 1 0 0 C2orf76 130355 broad.mit.edu 37 2 120078774 120078774 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:120078774G>A ENST00000409466.2 - 4 661 c.140C>T c.(139-141)cCt>cTt p.P47L C2orf76_ENST00000409877.1_Missense_Mutation_p.P47L|C2orf76_ENST00000334816.7_Missense_Mutation_p.P47L|C2orf76_ENST00000409523.1_Missense_Mutation_p.P47L Q3KRA6 CB076_HUMAN chromosome 2 open reading frame 76 47 large_intestine(1)|lung(3)|pancreas(1) 5 GGTCCTTAAAGGGATATCTAC 0.279000 37 33 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82582113 82582113 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr7:82582113C>T ENST00000423517.2 - 5 8493 c.8156G>A c.(8155-8157)gGa>gAa p.G2719E PCLO_ENST00000333891.8_Missense_Mutation_p.G2719E NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2650 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTGCAATTTTCCATCTTCTTT 0.373000 21 39 0 0 1 0 0 CHRNE 1145 broad.mit.edu 37 17 4802086 4802086 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr17:4802086C>T ENST00000293780.4 - 12 1437 c.1427G>A c.(1426-1428)gGg>gAg p.G476E NM_000080.3 NP_000071.1 Q04844 ACHE_HUMAN cholinergic receptor, nicotinic, epsilon (muscle) 476 muscle contraction|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1) 12 GAAGTAGGCCCCGAGGAAGAT 0.582000 11 11 0 0 1 0 0 ELMOD1 55531 broad.mit.edu 37 11 107521068 107521068 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr11:107521068G>A ENST00000265840.7 + 8 827 c.562G>A c.(562-564)Gcg>Acg p.A188T ELMOD1_ENST00000531234.1_Missense_Mutation_p.A182T|ELMOD1_ENST00000443271.2_Missense_Mutation_p.A188T NM_018712.3 NP_061182.3 Q8N336 ELMD1_HUMAN ELMO/CED-12 domain containing 1 188 ELMO. phagocytosis cytoskeleton GTPase activator activity endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1) 19 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481) CAGGTATTTCGCGGAAAGGGA 0.423000 7 0 0 0 1 0 0 SNRNP200 23020 broad.mit.edu 37 2 96944310 96944310 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:96944310G>A ENST00000323853.5 - 38 5540 c.5463C>T c.(5461-5463)taC>taT p.Y1821Y SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 1821 SEC63 2. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 TGATGTAATAGTAGGCGGCGA 0.587000 34 94 0 0 1 0 0 MACC1 346389 broad.mit.edu 37 7 20198549 20198549 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr7:20198549C>T ENST00000400331.5 - 5 1743 c.1435G>A c.(1435-1437)Gag>Aag p.E479K MACC1_ENST00000332878.4_Missense_Mutation_p.E479K|MACC1_ENST00000589011.1_Missense_Mutation_p.E479K NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 479 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 AAGTGCATCTCTCTGTGCTCA 0.388000 65 64 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3239874 3239874 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chrX:3239874C>T ENST00000217939.6 - 5 4006 c.3852G>A c.(3850-3852)ctG>ctA p.L1284L NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1284 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CCTCAGTTTTCAGAGAAACAG 0.403000 79 17 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39379403 39379403 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr7:39379403C>T ENST00000518318.2 + 5 716 c.674C>T c.(673-675)cCc>cTc p.P225L POU6F2_ENST00000559001.1_Missense_Mutation_p.P217L|POU6F2_ENST00000403058.1_Missense_Mutation_p.P225L|POU6F2_ENST00000517348.1_3'UTR P78424 PO6F2_HUMAN POU class 6 homeobox 2 225 Gln-rich.|Pro-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 cccaccccaccccagcagcca 0.701000 6 12 0 0 1 0 0 ACTA2 59 broad.mit.edu 37 10 90707056 90707056 + Missense_Mutation SNP T T C TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr10:90707056T>C ENST00000458208.1 - 3 691 c.217A>G c.(217-219)Ata>Gta p.I73V ACTA2_ENST00000224784.6_Missense_Mutation_p.I73V|STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000480297.1_5'UTR NM_001141945.1 NP_001135417.1 P62736 ACTA_HUMAN actin, alpha 2, smooth muscle, aorta 73 response to virus cytosol ATP binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2) 17 Colorectal(252;0.0161) Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018) CCATGTTCTATCGGGTACTTC 0.502000 91 18 0 0 1 0 0 CYP4B1 1580 broad.mit.edu 37 1 47276533 47276533 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:47276533G>A ENST00000271153.4 + 2 270 c.234G>A c.(232-234)ccG>ccA p.P78P CYP4B1_ENST00000371919.4_Silent_p.P78P|CYP4B1_ENST00000371923.4_Silent_p.P78P P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 78 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) ACCAGTTCCCGTATGCCCACC 0.552000 36 38 0 0 1 0 0 DCST1 149095 broad.mit.edu 37 1 155018676 155018676 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:155018676G>A ENST00000295542.1 + 12 1444 c.1348G>A c.(1348-1350)Gcc>Acc p.A450T DCST1_ENST00000423025.2_Missense_Mutation_p.A425T|DCST1_ENST00000368419.2_Missense_Mutation_p.A450T|DCST1_ENST00000392480.1_Missense_Mutation_p.A450T NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 450 integral to membrane zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CACCATCCAGGCCTCAGAAAT 0.552000 46 76 0 0 1 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529744 5529744 + Silent SNP A A G TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr11:5529744A>G ENST00000311659.4 - 2 1192 c.1045T>C c.(1045-1047)Tta>Cta p.L349L HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 349 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTCTCGTGTAATTGCTGGAGA 0.498000 50 67 0 0 1 0 0 B4GALNT4 338707 broad.mit.edu 37 11 373058 373058 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr11:373058C>T ENST00000329962.6 + 5 477 c.477C>T c.(475-477)tcC>tcT p.S159S NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 159 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGGCCGTGTCCCCCAAGTGGA 0.672000 56 48 0 0 1 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104206492 104206492 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr14:104206492G>A ENST00000202556.9 - 12 2543 c.2261C>T c.(2260-2262)aCc>aTc p.T754I PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Missense_Mutation_p.T173I NM_015316.2 NP_056131.2 Q96KQ4 ASPP1_HUMAN protein phosphatase 1, regulatory subunit 13B 754 Pro-rich. apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) ATCGGCCAAGGTGCCCATGAA 0.632000 73 86 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14819311 14819311 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr9:14819311C>T ENST00000380881.4 - 15 3285 c.2470G>A c.(2470-2472)Gga>Aga p.G824R FREM1_ENST00000422223.2_Missense_Mutation_p.G823R|FREM1_ENST00000380880.3_Missense_Mutation_p.G823R Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 823 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TCCACCCTTCCGTGCAGAGGC 0.458000 26 5 0 0 1 0 0 GIGYF2 26058 broad.mit.edu 37 2 233715079 233715079 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:233715079G>A ENST00000373566.3 + 29 4055 c.3858G>A c.(3856-3858)aaG>aaA p.K1286K GIGYF2_ENST00000409547.1_Silent_p.K1264K|GIGYF2_ENST00000409480.1_Silent_p.K1286K|GIGYF2_ENST00000409451.3_Silent_p.K1285K|GIGYF2_ENST00000409196.3_Silent_p.K1258K|GIGYF2_ENST00000373563.4_Silent_p.K1264K Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 1264 cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) GCAAGAAGAAGAAAAAGCAGA 0.468000 45 35 0 0 1 0 0 TRBV6-9 28598 broad.mit.edu 37 7 142104519 142104519 + RNA SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr7:142104519G>A ENST00000390379.1 - 0 34 CCACAGGAGAGAAAAGGCCAC 0.597000 49 112 0 0 1 0 0 PHKG1 5260 broad.mit.edu 37 7 56155395 56155395 + Missense_Mutation SNP A A G TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr7:56155395A>G ENST00000452681.2 - 3 307 c.158T>C c.(157-159)gTc>gCc p.V53A PHKG1_ENST00000537360.1_Silent_p.R17R|PHKG1_ENST00000297373.2_Missense_Mutation_p.V53A|PHKG1_ENST00000489604.1_5'UTR NM_001258459.1 NP_001245388.1 Q16816 PHKG1_HUMAN phosphorylase kinase, gamma 1 (muscle) 53 Protein kinase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity endometrium(1)|large_intestine(1)|lung(5) 7 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TCCACCGGTGACGTCGATGAC 0.642000 31 60 0 0 1 0 0 BIRC8 112401 broad.mit.edu 37 19 53793269 53793269 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:53793269C>T ENST00000426466.1 - 1 1606 c.359G>A c.(358-360)cGa>cAa p.R120Q NM_033341.4 NP_203127.3 Q96P09 BIRC8_HUMAN baculoviral IAP repeat containing 8 120 apoptosis zinc ion binding p.R120Q(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1) 19 GBM - Glioblastoma multiforme(134;0.00304) AAATCCCATTCGTATAGCTTC 0.383000 73 128 0 0 1 0 0 VSTM1 284415 broad.mit.edu 37 19 54561718 54561718 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:54561718G>A ENST00000338372.2 - 3 372 c.197C>T c.(196-198)tCt>tTt p.S66F VSTM1_ENST00000425006.2_Missense_Mutation_p.S66F|VSTM1_ENST00000376626.1_Missense_Mutation_p.S66F|VSTM1_ENST00000366170.2_Intron NM_198481.3 NP_940883.2 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 66 Ig-like V-type. integral to membrane breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) CTTGTACCCAGAGTCGTTCAC 0.542000 91 90 0 0 1 0 0 LTBR 4055 broad.mit.edu 37 12 6499337 6499337 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr12:6499337C>T ENST00000228918.4 + 9 1187 c.861C>T c.(859-861)ttC>ttT p.F287F LTBR_ENST00000539925.1_Silent_p.F268F|LTBR_ENST00000541102.1_Silent_p.F144F NM_002342.1 NP_002333.1 P36941 TNR3_HUMAN lymphotoxin beta receptor (TNFR superfamily, member 3) 287 apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane protein binding|receptor activity breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 ATCCATACTTCCCTGACTTGG 0.587000 74 123 0 0 1 0 0 RBM42 79171 broad.mit.edu 37 19 36124043 36124043 + Silent SNP C C T rs149753042 TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:36124043C>T ENST00000262633.4 + 6 678 c.573C>T c.(571-573)gcC>gcT p.A191A RBM42_ENST00000586618.1_Intron|RBM42_ENST00000589871.1_Silent_p.A169A|RBM42_ENST00000589559.1_Silent_p.A162A|RBM42_ENST00000588161.1_Silent_p.A161A|RBM42_ENST00000592202.1_Silent_p.A137A|RBM42_ENST00000360475.4_Silent_p.A162A NM_024321.3 NP_077297.2 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 191 Pro-rich. cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1) 21 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CTCACCAGGCCCTCGTGGGCC 0.706000 120 141 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103120167 103120167 + Splice_Site SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:103120167G>A ENST00000295269.4 + 3 1437 c.e3+1 NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity p.?(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 GCATCCTGGCGTGAGTACAAA 0.433000 53 49 0 0 1 0 0 TEKT2 27285 broad.mit.edu 37 1 36553376 36553376 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:36553376C>T ENST00000207457.3 + 9 1174 c.1047C>T c.(1045-1047)atC>atT p.I349I NM_014466.2 NP_055281.2 Q9UIF3 TEKT2_HUMAN tektin 2 (testicular) 349 cell projection organization|microtubule cytoskeleton organization actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2) 13 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AGGCAACCATCGCTGCCCTGA 0.612000 13 31 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 54005089 54005089 + Splice_Site SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr15:54005089C>T ENST00000396328.1 - 7 831 c.e7-1 WDR72_ENST00000557913.1_Splice_Site|WDR72_ENST00000559418.1_Splice_Site|WDR72_ENST00000360509.5_Splice_Site NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) CTTGCTTTTCCTTCAAAAGGA 0.383000 12 25 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57182478 57182478 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr4:57182478C>T ENST00000504228.1 + 6 2915 c.2810C>T c.(2809-2811)cCa>cTa p.P937L KIAA1211_ENST00000264229.6_Missense_Mutation_p.P937L|KIAA1211_ENST00000541073.1_Missense_Mutation_p.P930L Q6ZU35 K1211_HUMAN KIAA1211 937 Pro-rich. endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) CCTGGGCCTCCACCGGCCAGC 0.657000 27 29 0 0 1 0 0 LONP1 9361 broad.mit.edu 37 19 5713200 5713200 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:5713200G>A ENST00000360614.3 - 3 740 c.583C>T c.(583-585)Cat>Tat p.H195Y LONP1_ENST00000540670.2_5'UTR|LONP1_ENST00000593119.1_Missense_Mutation_p.H131Y|LONP1_ENST00000590729.1_Missense_Mutation_p.H81Y|LONP1_ENST00000585374.1_Missense_Mutation_p.H81Y NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 195 Lon. 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 TGCATCTCATGGATCTGGGCA 0.577000 37 72 0 0 1 0 0 LRRC42 115353 broad.mit.edu 37 1 54417686 54417686 + Missense_Mutation SNP T T A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:54417686T>A ENST00000371370.3 + 3 535 c.14T>A c.(13-15)cTc>cAc p.L5H LRRC42_ENST00000319223.4_Missense_Mutation_p.L5H NM_001256409.1 NP_001243338.1 Q9Y546 LRC42_HUMAN leucine rich repeat containing 42 5 breast(2)|kidney(1)|large_intestine(1)|lung(5) 9 TCTTACTACCTCAGCTCAGAA 0.478000 24 27 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7640184 7640184 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr12:7640184G>A ENST00000359156.4 - 8 2023 c.1821C>T c.(1819-1821)ctC>ctT p.L607L CD163_ENST00000541972.1_Silent_p.L595L|CD163_ENST00000432237.2_Silent_p.L607L|CD163_ENST00000396620.3_Silent_p.L640L NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 607 SRCR 6. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GAGAGTTACAGAGGGATCCCC 0.522000 79 66 0 0 1 0 0 DGKE 8526 broad.mit.edu 37 17 54925412 54925412 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr17:54925412G>A ENST00000284061.3 + 5 1054 c.874G>A c.(874-876)Gac>Aac p.D292N NM_003647.2 NP_003638.1 P52429 DGKE_HUMAN diacylglycerol kinase, epsilon 64kDa 292 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 Breast(9;3.59e-07) TGCAGTTGATGACATGAAGAT 0.373000 44 30 0 0 1 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52003316 52003316 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:52003316G>A ENST00000291707.3 - 2 721 c.666C>T c.(664-666)ctC>ctT p.L222L SIGLEC12_ENST00000598614.1_Silent_p.L104L NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 222 Ig-like V-type 2. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) GGTCCCCAAGGAGGAGGAATC 0.547000 61 133 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44933724 44933724 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:44933724C>T ENST00000291187.4 - 6 1536 c.1214G>A c.(1213-1215)gGg>gAg p.G405E ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Missense_Mutation_p.G411E NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 411 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) GAAGCCCTTCCCACACTCGCT 0.527000 54 50 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16918577 16918577 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:16918577C>T ENST00000524140.2 + 18 4335 c.3917C>T c.(3916-3918)tCc>tTc p.S1306F NWD1_ENST00000552788.1_Missense_Mutation_p.S1306F|NWD1_ENST00000549814.1_Missense_Mutation_p.S1264F|NWD1_ENST00000379808.3_Missense_Mutation_p.S1306F|NWD1_ENST00000523826.1_Missense_Mutation_p.S1100F|NWD1_ENST00000339803.6_Missense_Mutation_p.S1171F NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1306 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 AACTGCATGTCCCTGAGCAAG 0.627000 43 87 0 0 1 0 0 NCOR1P1 149934 broad.mit.edu 37 20 26084080 26084080 + RNA SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr20:26084080G>A ENST00000478176.1 - 0 377 NR_003678.1 cttctgtagggagaaaaacat 0.299000 6 21 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29055904 29055904 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr18:29055904G>A ENST00000257189.4 + 16 2764 c.2681G>A c.(2680-2682)gGa>gAa p.G894E NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 894 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding p.G894E(1) breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CAGCAGACAGGATTTGTTAAG 0.512000 42 45 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105150455 105150455 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chrX:105150455C>T ENST00000428173.2 + 11 1197 c.894C>T c.(892-894)ttC>ttT p.F298F NRK_ENST00000243300.9_Silent_p.F298F Q7Z2Y5 NRK_HUMAN Nik related kinase 298 Protein kinase. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 TAAAAAATTTCCTGTTTCGTC 0.373000 HNSCC(51;0.14) 11 2 0 0 1 0 0 ZNF470 388566 broad.mit.edu 37 19 57088911 57088911 + Missense_Mutation SNP G G C TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:57088911G>C ENST00000330619.8 + 6 1800 c.1114G>C c.(1114-1116)Gac>Cac p.D372H ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.D372H NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 372 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) TGAATGTATTGACTGTGGGAA 0.423000 35 34 0 0 1 0 0 FGF14 2259 broad.mit.edu 37 13 102379153 102379153 + Missense_Mutation SNP A A C TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr13:102379153A>C ENST00000376131.4 - 4 526 c.431T>G c.(430-432)tTt>tGt p.F144C FGF14_ENST00000376143.4_Missense_Mutation_p.F139C NM_175929.2 NP_787125.1 Q92915 FGF14_HUMAN fibroblast growth factor 14 139 cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction nucleus growth factor activity|heparin binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2) 29 all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTCAGGGGTAAAAAGTTCCTG 0.363000 19 26 0 0 1 0 0 VRK3 51231 broad.mit.edu 37 19 50496144 50496144 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:50496144G>A ENST00000599538.1 - 10 1600 c.936C>T c.(934-936)atC>atT p.I312I VRK3_ENST00000316763.3_Silent_p.I312I|VRK3_ENST00000594092.1_Silent_p.I312I|VRK3_ENST00000601341.1_Silent_p.I262I|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000443401.2_Silent_p.I81I|VRK3_ENST00000377011.2_Silent_p.I262I|VRK3_ENST00000593919.1_Silent_p.I312I|VRK3_ENST00000594948.1_Silent_p.I312I|VRK3_ENST00000601912.1_Silent_p.I262I Q8IV63 VRK3_HUMAN vaccinia related kinase 3 312 Protein kinase. nucleus ATP binding|protein kinase activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1) 23 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) GATCCACAAAGATATTTTCAG 0.493000 82 151 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30316861 30316861 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr10:30316861C>T ENST00000375377.1 - 3 2317 c.2216G>A c.(2215-2217)gGt>gAt p.G739D NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 739 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TTTGTGATCACCGGTAGGGAA 0.572000 28 11 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 62 65 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179603057 179603057 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:179603057G>A ENST00000589042.1 - 49 14347 c.14123C>T c.(14122-14124)cCc>cTc p.P4708L TTN_ENST00000359218.5_Missense_Mutation_p.P4470L|TTN_ENST00000342992.6_Missense_Mutation_p.P3464L|TTN_ENST00000591111.1_Missense_Mutation_p.P4391L|TTN_ENST00000342175.6_Missense_Mutation_p.P4537L|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P4345L|TTN-AS1_ENST00000582847.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4391 Ig-like 27. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TACTTCCAGGGGTTCGATTTT 0.458000 7 22 0 0 1 0 0 FBXO17 115290 broad.mit.edu 37 19 39433258 39433258 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:39433258C>T ENST00000292852.4 - 6 1168 c.827G>A c.(826-828)cGt>cAt p.R276H SARS2_ENST00000448145.2_Intron|FBXO17_ENST00000595329.1_Missense_Mutation_p.R276H|CTC-360G5.8_ENST00000599996.1_Intron NM_024907.5 NP_079183.4 F-box protein 17 breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1) 7 all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) CTAGGACAGACGGATCCTGAC 0.577000 5 112 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34072985 34072985 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr17:34072985G>A ENST00000254466.6 - 6 1558 c.1531C>T c.(1531-1533)Cgc>Tgc p.R511C GAS2L2_ENST00000587565.1_Missense_Mutation_p.R495C NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 511 cell cycle arrest cytoplasm|cytoskeleton p.R511C(1) central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GTTGGGGGGCGAGCAGGGGGC 0.607000 33 84 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4919741 4919741 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr12:4919741C>T ENST00000433855.1 + 1 1400 c.534C>T c.(532-534)atC>atT p.I178I KCNA6_ENST00000280684.3_Silent_p.I178I NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 178 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 GCATCGCCATCGTCTCCGTGT 0.592000 HNSCC(72;0.22) 32 45 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72049847 72049847 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr13:72049847C>T ENST00000305425.4 - 9 2433 c.2011G>A c.(2011-2013)Gtc>Atc p.V671I DACH1_ENST00000313174.7_Missense_Mutation_p.V523I|DACH1_ENST00000359684.2_Missense_Mutation_p.V723I|DACH1_ENST00000354591.4_Missense_Mutation_p.V469I NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 721 DACHbox-C.|Interaction with SIN3A (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) CCATTTAAGACCCTGAGACTA 0.388000 116 176 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141722237 141722237 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr7:141722237G>A ENST00000475668.2 + 7 934 c.880G>A c.(880-882)Gga>Aga p.G294R MGAM_ENST00000549489.2_Missense_Mutation_p.G294R O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 294 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AACTCCCAATGGAGTAAGCTT 0.433000 44 77 0 0 1 0 0 HERC2P2 400322 broad.mit.edu 37 15 23300080 23300080 + RNA SNP T T C rs28482434 by1000genomes TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr15:23300080T>C ENST00000560464.1 - 0 4207 TGCTGCACGTTGACAGGCGTG 0.612000 4 34 0 0 1 0 0 CNOT6 57472 broad.mit.edu 37 5 179998424 179998424 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr5:179998424G>A ENST00000393356.1 + 13 1877 c.1453G>A c.(1453-1455)Gat>Aat p.D485N CNOT6_ENST00000261951.4_Missense_Mutation_p.D485N Q9ULM6 CNOT6_HUMAN CCR4-NOT transcription complex, subunit 6 485 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus exonuclease activity|metal ion binding|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1) 23 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) TTACACATTTGATTTCAAGGT 0.413000 33 28 0 0 1 0 0 PDLIM2 64236 broad.mit.edu 37 8 22442859 22442859 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr8:22442859G>A ENST00000265810.4 + 5 602 c.487G>A c.(487-489)Ggc>Agc p.G163S PDLIM2_ENST00000308354.7_Missense_Mutation_p.G413S|PDLIM2_ENST00000409141.1_Missense_Mutation_p.G163S|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000397761.2_Missense_Mutation_p.G163S|PDLIM2_ENST00000409417.1_Missense_Mutation_p.G163S|PDLIM2_ENST00000397760.4_Missense_Mutation_p.G163S|PDLIM2_ENST00000339162.7_Missense_Mutation_p.G163S NM_176871.3 NP_789847.1 Q96JY6 PDLI2_HUMAN PDZ and LIM domain 2 (mystique) 163 actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626) ATGTTCCCCGGGCCTCCCCGC 0.682000 16 19 0 0 1 0 0 TGIF2LX 90316 broad.mit.edu 37 X 89177324 89177324 + Missense_Mutation SNP A A C TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chrX:89177324A>C ENST00000561129.2 + 1 370 c.240A>C c.(238-240)gaA>gaC p.E80D TGIF2LX_ENST00000283891.5_Missense_Mutation_p.E80D Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 80 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1) 40 ACCCTTCAGAAGAAGAGAAGC 0.473000 5 121 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 56044618 56044618 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr6:56044618C>T ENST00000244728.5 - 3 795 c.398G>A c.(397-399)cGa>cAa p.R133Q COL21A1_ENST00000535941.1_Missense_Mutation_p.R133Q|COL21A1_ENST00000370819.1_Missense_Mutation_p.R133Q NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 133 VWFA. cell adhesion collagen|cytoplasm structural molecule activity p.R133Q(2) breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) AGTCAGAAATCGTGAGGACTT 0.448000 23 27 0 0 1 0 0 TCN1 6947 broad.mit.edu 37 11 59630082 59630082 + Missense_Mutation SNP T T C TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr11:59630082T>C ENST00000257264.3 - 3 477 c.373A>G c.(373-375)Aaa>Gaa p.K125E TCN1_ENST00000532419.1_5'UTR NM_001062.3 NP_001053.2 P20061 TCO1_HUMAN transcobalamin I (vitamin B12 binding protein, R binder family) 125 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GCTTGGAATTTATTTTCTAGC 0.368000 46 65 0 0 1 0 0 NREP 9315 broad.mit.edu 37 5 111066729 111066729 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr5:111066729G>A ENST00000379671.3 - 5 360 c.96C>T c.(94-96)gtC>gtT p.V32V NREP_ENST00000446294.2_Silent_p.V32V|NREP_ENST00000509979.1_3'UTR|NREP_ENST00000447165.2_Silent_p.V32V|NREP_ENST00000509025.1_Intron|NREP_ENST00000395634.3_Silent_p.V76V|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000257435.7_Silent_p.V32V|STARD4-AS1_ENST00000513221.1_RNA|NREP_ENST00000453526.2_Silent_p.V32V|NREP_ENST00000515855.1_3'UTR|NREP_ENST00000419114.2_Silent_p.V32V|NREP_ENST00000509427.1_Silent_p.V32V|NREP_ENST00000508870.1_Silent_p.V32V|NREP_ENST00000455559.2_Silent_p.V32V|NREP_ENST00000507742.1_5'UTR|NREP_ENST00000450761.2_Silent_p.V32V NM_001142478.1 NP_001135950.1 Q16612 NP311_HUMAN neuronal regeneration related protein 32 cytoplasm CTTCCTTTGGGACAGGAAGTC 0.473000 29 32 0 0 1 0 0 WBP11 51729 broad.mit.edu 37 12 14940156 14940156 + Missense_Mutation SNP T T C TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr12:14940156T>C ENST00000261167.2 - 12 2002 c.1769A>G c.(1768-1770)aAa>aGa p.K590R WBP11_ENST00000537574.1_Missense_Mutation_p.K556R NM_016312.2 NP_057396.1 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 590 mRNA processing|RNA splicing|rRNA processing cytoplasm single-stranded DNA binding|WW domain binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1) 30 AGTAGCCCCTTTATTCTCCCG 0.507000 129 189 0 0 1 0 0 OR7G2 390882 broad.mit.edu 37 19 9213827 9213827 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:9213827G>A ENST00000305456.2 - 1 155 c.156C>T c.(154-156)ttC>ttT p.F52F NM_001005193.1 NP_001005193.1 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, member 2 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 ACATGGACAGGAACAGGCTGA 0.512000 45 81 0 0 1 0 0 BCAM 4059 broad.mit.edu 37 19 45315517 45315517 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:45315517C>T ENST00000391955.1 + 3 346 c.302C>T c.(301-303)cCa>cTa p.P101L BCAM_ENST00000270233.6_Missense_Mutation_p.P101L P50895 BCAM_HUMAN basal cell adhesion molecule (Lutheran blood group) 101 Ig-like V-type 1. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) CGCAGTCCCCCATACCAGCTG 0.706000 19 28 0 0 1 0 0 FAM170A 340069 broad.mit.edu 37 5 118970109 118970109 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr5:118970109G>A ENST00000515256.1 + 3 838 c.666G>A c.(664-666)gtG>gtA p.V222V A1A519 F170A_HUMAN family with sequence similarity 170, member A 222 intracellular zinc ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 24 ACTGGCTGGTGACCATGGAGA 0.587000 122 145 0 0 1 0 0 ZDHHC8 29801 broad.mit.edu 37 22 20128527 20128527 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr22:20128527C>T ENST00000334554.7 + 7 1027 c.886C>T c.(886-888)Cgt>Tgt p.R296C ZDHHC8_ENST00000405930.3_Missense_Mutation_p.R296C|ZDHHC8_ENST00000468112.1_3'UTR|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.R204C NM_013373.3 NP_037505.1 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC-type containing 8 296 cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 20 Colorectal(54;0.0993) TGGCCTGGGCCGTAGCAAGGT 0.627000 58 80 0 0 1 0 0 SAPCD1 401251 broad.mit.edu 37 6 31730939 31730939 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr6:31730939C>T ENST00000415669.2 + 1 167 c.108C>T c.(106-108)ttC>ttT p.F36F MSH5-SAPCD1_ENST00000493662.2_3'UTR|SAPCD1_ENST00000425424.1_Silent_p.F36F|MSH5_ENST00000534153.4_3'UTR NM_001039651.1 NP_001034740.1 Q5SSQ6 G7D_HUMAN suppressor APC domain containing 1 36 AGAGCTTCTTCCTTTGGGTGA 0.597000 10 13 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7525992 7525992 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr12:7525992G>A ENST00000313599.3 - 14 3711 c.3654C>T c.(3652-3654)tcC>tcT p.S1218S CD163L1_ENST00000416109.2_Silent_p.S1228S|CD163L1_ENST00000396630.1_Silent_p.S1218S Q9NR16 C163B_HUMAN CD163 molecule-like 1 1218 SRCR 11. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 ACTGCCATATGGAGATATGCG 0.517000 54 66 0 0 1 0 0 ZNF491 126069 broad.mit.edu 37 19 11917104 11917104 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:11917104C>T ENST00000323169.5 + 3 667 c.336C>T c.(334-336)ttC>ttT p.F112F ZNF491_ENST00000492230.1_Intron NM_152356.3 NP_689569.2 Q8N8L2 ZN491_HUMAN zinc finger protein 491 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1) 26 AAAAATCTTTCATTTCTCCTG 0.403000 52 59 0 0 1 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24259557 24259557 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr8:24259557G>A ENST00000538205.1 + 13 1582 c.1035G>A c.(1033-1035)ggG>ggA p.G345G RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Silent_p.G424G|ADAMDEC1_ENST00000522298.1_Silent_p.G345G NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 424 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) CAGTGTGTGGGAACCACCTTC 0.398000 48 62 0 0 1 0 0 LTBR 4055 broad.mit.edu 37 12 6499338 6499338 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr12:6499338C>T ENST00000228918.4 + 9 1188 c.862C>T c.(862-864)Cct>Tct p.P288S LTBR_ENST00000539925.1_Missense_Mutation_p.P269S|LTBR_ENST00000541102.1_Missense_Mutation_p.P145S NM_002342.1 NP_002333.1 P36941 TNR3_HUMAN lymphotoxin beta receptor (TNFR superfamily, member 3) 288 apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane protein binding|receptor activity breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 TCCATACTTCCCTGACTTGGT 0.582000 75 122 0 0 1 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71277010 71277010 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr11:71277010C>T ENST00000398531.1 + 1 402 c.377C>T c.(376-378)tCc>tTc p.S126F KRTAP5-10_ENST00000376536.4_Missense_Mutation_p.S78F NM_001012710.1 NP_001012728.1 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 126 7 X 4 AA repeats of C-C-X-P. keratin filament endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 GGCTGTGGTTCCTGTGGGGGC 0.657000 215 31 0 0 1 0 0 ATP8B1 5205 broad.mit.edu 37 18 55351389 55351389 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr18:55351389C>T ENST00000536015.1 - 15 1628 c.1509G>A c.(1507-1509)ggG>ggA p.G503G RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Silent_p.G503G|RP11-35G9.5_ENST00000588925.1_RNA NM_005603.4 NP_005594.1 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 503 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) ATGCAAGCTTCCCATCAGCAT 0.358000 18 37 0 0 1 0 0 HNF1B 6928 broad.mit.edu 37 17 36093664 36093664 + Missense_Mutation SNP C C A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr17:36093664C>A ENST00000225893.4 - 3 1056 c.695G>T c.(694-696)cGc>cTc p.R232L HNF1B_ENST00000427275.2_Missense_Mutation_p.R206L|HNF1B_ENST00000561193.1_Missense_Mutation_p.R206L|HNF1B_ENST00000560016.1_Missense_Mutation_p.R232L NM_000458.2|NM_001165923.1 NP_000449.1|NP_001159395.1 P35680 HNF1B_HUMAN HNF1 homeobox B 232 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) CCGGTTGCGGCGCATCTTCTT 0.567000 58 75 2.27459e-33 2.32888e-33 1 1 0 KHNYN 23351 broad.mit.edu 37 14 24901146 24901146 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr14:24901146C>T ENST00000251343.5 + 3 818 c.679C>T c.(679-681)Ccc>Tcc p.P227S KHNYN_ENST00000553935.1_Missense_Mutation_p.P227S|KHNYN_ENST00000556842.1_Missense_Mutation_p.P227S O15037 KHNYN_HUMAN KH and NYN domain containing 227 p.P227S(1) kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3) 24 AGTGAGAGCTCCCCCTAGTGA 0.642000 OREG0022627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 57 17 0 0 1 0 0 C6orf222 389384 broad.mit.edu 37 6 36294348 36294348 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr6:36294348C>T ENST00000437635.2 - 5 1152 c.975G>A c.(973-975)aaG>aaA p.K325K NM_001010903.4 NP_001010903.3 P0C671 CF222_HUMAN chromosome 6 open reading frame 222 325 breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 AGCTGGACTTCTTGGGTGGCC 0.592000 74 112 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10088273 10088273 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:10088273G>A ENST00000264828.3 - 42 3208 c.3123C>T c.(3121-3123)tcC>tcT p.S1041S NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1041 Triple-helical region. 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) CACTTACCCGGGACCCCTTCT 0.642000 12 19 0 0 1 0 0 OLFM3 118427 broad.mit.edu 37 1 102271725 102271725 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:102271725C>T ENST00000370103.4 - 5 819 c.606G>A c.(604-606)ctG>ctA p.L202L OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Silent_p.L222L|OLFM3_ENST00000536598.1_3'UTR NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 222 extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) TGATTTTCATCAGTTTGCCAC 0.433000 44 64 0 0 1 0 0 IGSF5 150084 broad.mit.edu 37 21 41160105 41160105 + Nonsense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr21:41160105C>T ENST00000380588.4 + 6 1049 c.946C>T c.(946-948)Caa>Taa p.Q316* IGSF5_ENST00000479378.1_3'UTR NM_001080444.1 NP_001073913.1 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily, member 5 316 integral to membrane|tight junction breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1) 23 Prostate(19;5.35e-06) ATTTCGTATTCAATTTCAAAA 0.274000 9 18 0 0 1 0 0 FER1L5 90342 broad.mit.edu 37 2 97363878 97363878 + RNA SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:97363878G>A ENST00000457909.1 + 0 3844 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 ACAGCCCCGTGGTAGGGGAGT 0.572000 7 6 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10354189 10354189 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr17:10354189C>T ENST00000255381.2 - 29 3999 c.3889G>A c.(3889-3891)Gaa>Aaa p.E1297K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1297 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GCATCTTTTTCATCTAGCTGT 0.368000 32 70 0 0 1 0 0 ATN1 1822 broad.mit.edu 37 12 7043473 7043473 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr12:7043473C>T ENST00000356654.4 + 3 399 c.162C>T c.(160-162)gcC>gcT p.A54A ATN1_ENST00000396684.2_Silent_p.A54A NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 54 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 GGCAGACAGCCAAGGTATTCT 0.617000 31 52 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108836856 108836856 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr3:108836856G>A ENST00000232603.5 - 1 133 c.51C>T c.(49-51)ttC>ttT p.F17F MORC1_ENST00000483760.1_Silent_p.F17F NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 17 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TGGCGTGGATGAAATCCAGAC 0.637000 16 5 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48455158 48455158 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr3:48455158G>A ENST00000358536.4 - 23 4725 c.4456C>T c.(4456-4458)Cct>Tct p.P1486S PLXNB1_ENST00000456774.1_Missense_Mutation_p.P1303S|PLXNB1_ENST00000448774.2_Missense_Mutation_p.P97S|PLXNB1_ENST00000358459.4_Missense_Mutation_p.P1303S|PLXNB1_ENST00000296440.6_Missense_Mutation_p.P1486S NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1486 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GCTGCCACAGGAAAAGCCCCA 0.607000 35 9 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44933589 44933589 + Missense_Mutation SNP G G T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:44933589G>T ENST00000291187.4 - 6 1671 c.1349C>A c.(1348-1350)cCt>cAt p.P450H ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Missense_Mutation_p.P456H NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 456 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) CTTTTCTCCAGGGTGAATGTG 0.577000 43 47 5.34276e-22 5.45724e-22 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113585828 113585828 + Missense_Mutation SNP A A G TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr8:113585828A>G ENST00000297405.5 - 24 4188 c.3944T>C c.(3943-3945)aTg>aCg p.M1315T CSMD3_ENST00000455883.2_Missense_Mutation_p.M1211T|CSMD3_ENST00000352409.3_Missense_Mutation_p.M1315T|CSMD3_ENST00000343508.3_Missense_Mutation_p.M1275T NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1315 CUB 7. 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 CAGTCCGCGCATAGATGCACC 0.348000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 83 89 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 119915286 119915286 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr7:119915286C>T ENST00000331113.4 + 1 1565 c.600C>T c.(598-600)atC>atT p.I200I NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 200 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) TCTCTGTCATCGCGAATGTGG 0.562000 26 71 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119735075 119735075 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:119735075G>A ENST00000541757.1 + 8 788 c.408G>A c.(406-408)ggG>ggA p.G136G MARCO_ENST00000327097.4_Silent_p.G214G Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 214 cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 GTGCTCCAGGGAAGCAAGGAG 0.527000 31 61 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4919910 4919910 + Missense_Mutation SNP C C T rs149897413 TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr12:4919910C>T ENST00000433855.1 + 1 1569 c.703C>T c.(703-705)Cat>Tat p.H235Y KCNA6_ENST00000280684.3_Missense_Mutation_p.H235Y NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 235 voltage-gated potassium channel complex voltage-gated potassium channel activity p.H235Y(1) NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 CTACACATTTCATCATGGCAT 0.552000 HNSCC(72;0.22) 67 82 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43707815 43707815 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr15:43707815C>T ENST00000263801.3 - 23 5303 c.5051G>A c.(5050-5052)cGc>cAc p.R1684H TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1689H|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1639H|TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1689H NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 1684 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GGCAGACTTGCGACCTCGCTT 0.498000 Other conserved DNA damage response genes 4 173 0 0 1 0 0 OR2T33 391195 broad.mit.edu 37 1 248436232 248436232 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:248436232C>T ENST00000318021.2 - 1 906 c.885G>A c.(883-885)gtG>gtA p.V295V NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GGGCTCCCTTCACCTCACTGT 0.468000 107 145 0 0 1 0 0 VENTX 27287 broad.mit.edu 37 10 135053190 135053190 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr10:135053190G>A ENST00000325980.9 + 2 763 c.252G>A c.(250-252)aaG>aaA p.K84K NM_014468.2 NP_055283.1 O95231 VENTX_HUMAN VENT homeobox 84 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1) 14 all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05) GGTTGAGTAAGGAGCCAAATA 0.607000 19 2 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219892656 219892656 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:219892656C>T ENST00000341552.5 - 13 2010 c.1927G>A c.(1927-1929)Gac>Aac p.D643N CCDC108_ENST00000410037.1_Missense_Mutation_p.D578N|CCDC108_ENST00000441968.1_Missense_Mutation_p.D643N|CCDC108_ENST00000409865.3_Missense_Mutation_p.D632N|CCDC108_ENST00000453220.1_Missense_Mutation_p.D643N NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 643 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ATGGTTATGTCGCTGGTGCCG 0.612000 65 49 0 0 1 0 0 TOP3B 8940 broad.mit.edu 37 22 22324585 22324585 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr22:22324585G>A ENST00000398793.2 - 6 1012 c.578C>T c.(577-579)aCc>aTc p.T193I TOP3B_ENST00000357179.5_Missense_Mutation_p.T193I|TOP3B_ENST00000413067.2_Intron NM_003935.3 NP_003926.1 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 193 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) CCAGCACCTGGTGAATGCACA 0.647000 24 30 0 0 1 0 0 SEPHS2 22928 broad.mit.edu 37 16 30456871 30456871 + Nonstop_Mutation SNP A A T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr16:30456871A>T ENST00000478753.2 - 1 631 c.178T>A c.(178-180)Tga>Aga p.*60R SEPHS2_ENST00000542752.1_Intron|SEPHS2_ENST00000500504.2_Nonstop_Mutation_p.*60R Q99611 SPS2_HUMAN selenophosphate synthetase 2 60 selenocysteine biosynthetic process ATP binding|selenide, water dikinase activity breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 10 TTGCAGCCTCAGCCCTTCATG 0.726000 6 6 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40116347 40116347 + Silent SNP G G A rs143570961 byFrequency TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr20:40116347G>A ENST00000373233.3 - 14 2136 c.1959C>T c.(1957-1959)acC>acT p.T653T CHD6_ENST00000309279.7_Intron NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 653 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) CCAAGAAAGCGGTCTCTGAAG 0.428000 54 64 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 55929411 55929411 + Nonsense_Mutation SNP C C A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr6:55929411C>A ENST00000244728.5 - 24 2534 c.2137G>T c.(2137-2139)Gga>Tga p.G713* COL21A1_ENST00000535941.1_Nonsense_Mutation_p.G713*|COL21A1_ENST00000370819.1_Nonsense_Mutation_p.G710*|COL21A1_ENST00000370808.2_Nonsense_Mutation_p.G113*|COL21A1_ENST00000467045.1_5'UTR NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 713 Collagen-like 4. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) CCATTTTCTCCCTTTTGACCC 0.328000 7 6 2.7689e-08 2.79496e-08 1 1 0 ZNF878 729747 broad.mit.edu 37 19 12155349 12155349 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:12155349C>T ENST00000602107.1 - 5 1007 c.1008G>A c.(1006-1008)agG>agA p.R336R CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Silent_p.R289R|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA C9JN71 ZN878_HUMAN zinc finger protein 878 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 TGAAGGCTTTCCTACATTGTG 0.403000 32 55 0 0 1 0 0 SLC30A3 7781 broad.mit.edu 37 2 27481769 27481769 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:27481769C>T ENST00000233535.4 - 2 481 c.129G>A c.(127-129)gaG>gaA p.E43E SLC30A3_ENST00000447008.2_Silent_p.E38E NM_003459.4 NP_003450.2 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), member 3 43 regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTTTGGACTCCTCAGGGAGGG 0.632000 20 26 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179603056 179603056 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:179603056G>A ENST00000589042.1 - 49 14348 c.14124C>T c.(14122-14124)ccC>ccT p.P4708P TTN_ENST00000359218.5_Silent_p.P4470P|TTN_ENST00000342992.6_Silent_p.P3464P|TTN_ENST00000591111.1_Silent_p.P4391P|TTN_ENST00000342175.6_Silent_p.P4537P|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.P4345P|TTN-AS1_ENST00000582847.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4391 Ig-like 27. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTACTTCCAGGGGTTCGATTT 0.463000 7 21 0 0 1 0 0 PCDH1 5097 broad.mit.edu 37 5 141242917 141242917 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr5:141242917C>T ENST00000287008.3 - 3 3126 c.2979G>A c.(2977-2979)gtG>gtA p.V993V PCDH1_ENST00000456271.1_Silent_p.V981V|PCDH1_ENST00000536585.1_Silent_p.V971V|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000394536.3_Silent_p.V993V|PCDH1_ENST00000503492.1_Intron NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 993 cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) GGTCCTGTACCACCTGGTGCT 0.637000 31 3 0 0 1 0 0 PCSK9 255738 broad.mit.edu 37 1 55527199 55527199 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:55527199G>A ENST00000302118.5 + 11 2123 c.1833G>A c.(1831-1833)aaG>aaA p.K611K PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_3'UTR NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 611 cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 GCAAAGTCAAGGAGCATGGAA 0.637000 9 12 0 0 1 0 0 IGHV3-43 28426 broad.mit.edu 37 14 106926250 106926250 + RNA SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr14:106926250G>A ENST00000434710.1 - 0 371 TGCAGATACAGGGAGTTTTTG 0.478000 105 201 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76938536 76938536 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chrX:76938536G>A ENST00000373344.5 - 9 2426 c.2212C>T c.(2212-2214)Ctc>Ttc p.L738F ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.L700F NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 738 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.I737fs*3(1)|p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) ACCTCTTTGAGGATTGCTAGC 0.353000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 180 34 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10713615 10713615 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:10713615G>A ENST00000377022.3 - 11 2816 c.2499C>T c.(2497-2499)acC>acT p.T833T CASZ1_ENST00000344008.5_Silent_p.T833T|RP4-734G22.3_ENST00000606802.1_RNA NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 833 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GTGTGTCAGGGGTGGCTGAGG 0.692000 30 31 0 0 1 0 0 MPI 4351 broad.mit.edu 37 15 75189870 75189870 + Nonstop_Mutation SNP T T C TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr15:75189870T>C ENST00000566377.1 + 7 897 c.862T>C c.(862-864)Tga>Cga p.*288R MPI_ENST00000535694.1_Silent_p.T307T|MPI_ENST00000323744.6_Silent_p.T296T|MPI_ENST00000563786.1_Silent_p.T337T|MPI_ENST00000352410.4_Silent_p.T357T P34949 MPI_HUMAN mannose phosphate isomerase 0 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol mannose-6-phosphate isomerase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 GCTCTGTCACTGAATACAAGG 0.572000 20 43 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10404651 10404651 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr17:10404651C>T ENST00000226207.5 - 27 3608 c.3514G>A c.(3514-3516)Gag>Aag p.E1172K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1172 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 AACTCAGCCTCCCGCTTCTTG 0.612000 70 156 0 0 1 0 0 GPR64 10149 broad.mit.edu 37 X 19021223 19021223 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chrX:19021223C>T ENST00000354791.3 - 23 2164 c.1923G>A c.(1921-1923)cgG>cgA p.R641R GPR64_ENST00000379876.1_Silent_p.R633R|GPR64_ENST00000379869.3_Silent_p.R657R|GPR64_ENST00000379873.2_Silent_p.R657R|GPR64_ENST00000379878.3_Silent_p.R641R|GPR64_ENST00000340581.3_Silent_p.R538R|GPR64_ENST00000360279.4_Silent_p.R635R|GPR64_ENST00000357991.3_Silent_p.R654R|GPR64_ENST00000356606.4_Silent_p.R643R|GPR64_ENST00000357544.3_Silent_p.R627R Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 657 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) GGTAATCCCTCCGGATCTTTC 0.463000 43 11 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89979993 89979993 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr5:89979993G>A ENST00000405460.2 + 28 6351 c.6255G>A c.(6253-6255)gcG>gcA p.A2085A NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2085 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CTTTAGTAGCGAAAGTACAGA 0.333000 16 14 0 0 1 0 0 ZNF257 113835 broad.mit.edu 37 19 22271817 22271817 + Missense_Mutation SNP A A G TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:22271817A>G ENST00000594947.1 + 4 1409 c.1265A>G c.(1264-1266)aAg>aGg p.K422R NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 422 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K422T(1) haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) ACTCAGCATAAGATAATTCAT 0.373000 4 64 0 0 1 0 0 SFTA3 253970 broad.mit.edu 37 14 36946189 36946189 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr14:36946189G>A ENST00000518529.2 - 3 923 c.248C>T c.(247-249)tCa>tTa p.S83L RP11-896J10.3_ENST00000521945.1_RNA|SFTA3_ENST00000518987.1_Intron NM_001101341.1 NP_001094811.1 P0C7M3 SFTA3_HUMAN surfactant associated 3 83 breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1) 7 GGCCTCGGATGAACTCCTGCT 0.517000 82 24 0 0 1 0 0 OR6C3 254786 broad.mit.edu 37 12 55725998 55725998 + Missense_Mutation SNP G G C TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr12:55725998G>C ENST00000379667.1 + 1 514 c.514G>C c.(514-516)Gat>Cat p.D172H NM_054104.1 NP_473445.1 Q9NZP0 OR6C3_HUMAN olfactory receptor, family 6, subfamily C, member 3 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 CAACGTCATTGATCACTTTGC 0.433000 114 133 0 0 1 0 0 ZRANB3 84083 broad.mit.edu 37 2 136111037 136111037 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:136111037C>T ENST00000401392.1 - 4 554 c.342G>A c.(340-342)caG>caA p.Q114Q ZRANB3_ENST00000264159.6_Silent_p.Q114Q|ZRANB3_ENST00000536680.1_Silent_p.Q114Q Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 114 Helicase ATP-binding. intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) CAGTTTTATTCTGAATAACAT 0.353000 30 21 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142566474 142566474 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr7:142566474C>T ENST00000392957.2 + 15 3050 c.2263C>T c.(2263-2265)Ccc>Tcc p.P755S EPHB6_ENST00000442129.1_Missense_Mutation_p.P755S|EPHB6_ENST00000411471.2_Missense_Mutation_p.P478S NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 755 Protein kinase. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) GGAGCTTGGCCCCCTGGACAG 0.612000 35 57 0 0 1 0 0 LINC01410 103352539 broad.mit.edu 37 9 66459909 66459909 + RNA SNP T T C rs146531631 by1000genomes TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr9:66459909T>C ENST00000424345.1 + 0 169 cattaaaatcttgggcatgca 0.368000 3 23 0 0 1 0 0 CLUL1 27098 broad.mit.edu 37 18 619340 619340 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr18:619340G>A ENST00000581619.1 + 3 1156 c.309G>A c.(307-309)aaG>aaA p.K103K CLUL1_ENST00000580436.1_3'UTR|CLUL1_ENST00000338387.7_Silent_p.K78K|CLUL1_ENST00000400606.2_Silent_p.K78K|CLUL1_ENST00000540035.1_Silent_p.K130K|CLUL1_ENST00000579494.1_Silent_p.K78K Q15846 CLUL1_HUMAN clusterin-like 1 (retinal) 78 cell death extracellular region NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1) 24 GCACCCTGAAGAAATGCAGAG 0.383000 41 46 0 0 1 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303278 151303278 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chrX:151303278G>A ENST00000370323.4 - 4 1131 c.815C>T c.(814-816)aCc>aTc p.T272I RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.T272I NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 272 MAGE. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CCAATCTTGGGTGAGCAGCTT 0.552000 97 21 0 0 1 0 0 TMEM154 201799 broad.mit.edu 37 4 153573855 153573855 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr4:153573855G>A ENST00000304385.3 - 2 520 c.289C>T c.(289-291)Ctt>Ttt p.L97F TMEM154_ENST00000504064.1_Missense_Mutation_p.L97F NM_152680.2 NP_689893.1 Q6P9G4 TM154_HUMAN transmembrane protein 154 97 integral to membrane kidney(2)|large_intestine(1) 3 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) TATGTTGCAAGGAATACCACG 0.318000 30 41 0 0 1 0 0 GUCA1C 9626 broad.mit.edu 37 3 108672519 108672519 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr3:108672519G>A ENST00000261047.3 - 1 223 c.91C>T c.(91-93)Cca>Tca p.P31S GUCA1C_ENST00000393963.3_Missense_Mutation_p.P31S|GUCA1C_ENST00000471108.1_Missense_Mutation_p.P31S NM_005459.3 NP_005450.3 O95843 GUC1C_HUMAN guanylate cyclase activator 1C 31 EF-hand 1. signal transduction|visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1) 14 AGGCCGGATGGATATTCCATC 0.403000 71 13 0 0 1 0 0 MIR516B2 574485 broad.mit.edu 37 19 54228765 54228765 + RNA SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:54228765G>A ENST00000385190.1 + 0 70 NR_030207.1 TCCTTTCAGAGGGTTACTCTT 0.403000 23 32 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43251674 43251674 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr6:43251674G>A ENST00000259750.4 + 14 3279 c.3196G>A c.(3196-3198)Ggc>Agc p.G1066S NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 1066 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) GGAGGACACGGGCTCGGAGCC 0.667000 33 37 0 0 1 0 0 BCAN 63827 broad.mit.edu 37 1 156626103 156626103 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:156626103G>A ENST00000329117.4 + 9 2308 c.1972G>A c.(1972-1974)Ggt>Agt p.G658S RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 658 EGF-like. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTGCCACAATGGTGGGACATG 0.652000 78 89 0 0 1 0 0 LINC01410 103352539 broad.mit.edu 37 9 66466567 66466567 + RNA SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr9:66466567C>T ENST00000424345.1 + 0 1200 atttagaccacggtataaaaa 0.413000 3 9 0 0 1 0 0 TMEM161B 153396 broad.mit.edu 37 5 87501742 87501742 + Missense_Mutation SNP A A G TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr5:87501742A>G ENST00000296595.6 - 8 813 c.689T>C c.(688-690)tTt>tCt p.F230S TMEM161B_ENST00000511218.1_Missense_Mutation_p.F48S|TMEM161B_ENST00000506536.1_Missense_Mutation_p.F48S|TMEM161B_ENST00000509387.1_Missense_Mutation_p.F103S|TMEM161B_ENST00000512429.1_Missense_Mutation_p.F219S|TMEM161B_ENST00000514135.1_Missense_Mutation_p.F230S NM_153354.3 NP_699185.1 Q8NDZ6 T161B_HUMAN transmembrane protein 161B 230 integral to membrane endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1) 20 all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26) AGCCAGGAAAAATTTGAAAGT 0.308000 45 45 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21232573 21232573 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:21232573G>A ENST00000233242.1 - 26 7294 c.7167C>T c.(7165-7167)taC>taT p.Y2389Y NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2389 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ATTTCTCAAAGTAATCTTTTA 0.308000 20 32 0 0 1 0 0 HOXD3 3232 broad.mit.edu 37 2 177036457 177036457 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:177036457G>A ENST00000468418.3 + 4 2844 c.754G>A c.(754-756)Gac>Aac p.D252N HOXD3_ENST00000410016.1_Missense_Mutation_p.D252N|HOXD3_ENST00000249440.3_Missense_Mutation_p.D252N P31249 HXD3_HUMAN homeobox D3 252 anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) GTACAAGAAGGACCAGAAGGC 0.662000 58 105 0 0 1 0 0 HSH2D 84941 broad.mit.edu 37 19 16268501 16268501 + Missense_Mutation SNP T T C TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:16268501T>C ENST00000253680.6 + 9 1486 c.955T>C c.(955-957)Tcc>Ccc p.S319P HSH2D_ENST00000588246.1_3'UTR|HSH2D_ENST00000397372.4_Missense_Mutation_p.S229P|HSH2D_ENST00000593154.2_3'UTR Q96JZ2 HSH2D_HUMAN hematopoietic SH2 domain containing 319 cytoplasm|nucleus central_nervous_system(1)|kidney(1)|large_intestine(2) 4 AGCCCTATCCTCCCAGGAGTC 0.617000 7 19 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109380511 109380511 + Silent SNP T T C TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:109380511T>C ENST00000283195.6 + 20 3642 c.3516T>C c.(3514-3516)ttT>ttC p.F1172F NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1172 RanBD1 1. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GTCCTCACTTTGAGCCTGTAG 0.428000 92 87 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14779981 14779981 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr18:14779981C>T ENST00000358984.4 + 11 1623 c.1443C>T c.(1441-1443)tcC>tcT p.S481S ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Silent_p.S481S NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 481 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 CATCAGAATCCAAACGAGAGG 0.279000 4 33 0 0 1 0 0 IL22RA1 58985 broad.mit.edu 37 1 24447751 24447751 + Silent SNP T T C TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:24447751T>C ENST00000270800.1 - 7 1307 c.1269A>G c.(1267-1269)aaA>aaG p.K423K NM_021258.3 NP_067081.2 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 423 integral to membrane interferon receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) GCCTAAGGTGTTTAGGACTAG 0.557000 49 52 0 0 1 0 0 TMEM130 222865 broad.mit.edu 37 7 98460820 98460820 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr7:98460820C>T ENST00000450876.1 - 2 1352 c.37G>A c.(37-39)Ggc>Agc p.G13S TMEM130_ENST00000339375.4_Missense_Mutation_p.G97S|TMEM130_ENST00000345589.4_Intron|TMEM130_ENST00000546258.1_Missense_Mutation_p.G78S|TMEM130_ENST00000416379.2_Missense_Mutation_p.G97S Q8N3G9 TM130_HUMAN transmembrane protein 130 97 Golgi membrane|integral to membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GGCACGTGGCCGACCACACGG 0.647000 63 47 0 0 1 0 0 C1orf227 149643 broad.mit.edu 37 1 213009290 213009290 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:213009290G>A ENST00000332912.3 - 2 309 c.202C>T c.(202-204)Ccc>Tcc p.P68S NM_001024601.2 NP_001019772.1 Q537H7 CA227_HUMAN chromosome 1 open reading frame 227 68 kidney(1)|large_intestine(1)|lung(1) 3 CCACTGTTGGGAACAGGCTCT 0.458000 88 91 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152722325 152722325 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr6:152722325G>A ENST00000367255.5 - 47 7578 c.6977C>T c.(6976-6978)tCg>tTg p.S2326L SYNE1_ENST00000341594.5_Missense_Mutation_p.S2363L|SYNE1_ENST00000423061.1_Missense_Mutation_p.S2333L|SYNE1_ENST00000448038.1_Missense_Mutation_p.S2333L|SYNE1_ENST00000265368.4_Missense_Mutation_p.S2326L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2326 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GTTCATCAACGATTCTTCCAC 0.368000 HNSCC(10;0.0054) 55 10 0 0 1 0 0 C1orf177 163747 broad.mit.edu 37 1 55277497 55277497 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:55277497G>A ENST00000358193.3 + 5 565 c.511G>A c.(511-513)Gag>Aag p.E171K C1orf177_ENST00000371273.3_Missense_Mutation_p.E171K NM_152607.2 NP_689820.2 Q3ZCV2 CA177_HUMAN chromosome 1 open reading frame 177 171 breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2) 17 AAATTATGGGGAGAAGGGTAA 0.592000 34 39 0 0 1 0 0 EPHX2 2053 broad.mit.edu 37 8 27394339 27394339 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr8:27394339G>A ENST00000521400.1 + 13 1639 c.1209G>A c.(1207-1209)cgG>cgA p.R403R EPHX2_ENST00000518379.1_Silent_p.R371R|EPHX2_ENST00000517536.1_Silent_p.R220R|EPHX2_ENST00000380476.3_Silent_p.R350R|EPHX2_ENST00000521780.1_Silent_p.R337R NM_001979.5 NP_001970.2 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic 403 Epoxide hydrolase. R -> RR. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 27 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) ACCTGAGTCGGACTTTCAAAA 0.517000 46 55 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129906958 129906958 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr10:129906958C>T ENST00000368654.3 - 13 3521 c.3146G>A c.(3145-3147)gGg>gAg p.G1049E MKI67_ENST00000368653.3_Missense_Mutation_p.G689E NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1049 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CGTGGTCTCCCCTGACGTCCG 0.542000 222 44 0 0 1 0 0 ATP5F1 515 broad.mit.edu 37 1 111996905 111996905 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:111996905C>T ENST00000369722.3 + 3 756 c.150C>T c.(148-150)taC>taT p.Y50Y ATP5F1_ENST00000483994.1_Intron|ATP5F1_ENST00000369721.4_Intron NM_001688.4 NP_001679.2 P24539 AT5F1_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 50 ATP catabolic process|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 8 all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) TTCCTGAATACGGAGGAAAAG 0.438000 66 85 0 0 1 0 0 MTTP 4547 broad.mit.edu 37 4 100504592 100504592 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr4:100504592G>A ENST00000457717.1 + 4 567 c.311G>A c.(310-312)gGa>gAa p.G104E MTTP_ENST00000265517.5_Missense_Mutation_p.G104E|MTTP_ENST00000511045.1_Missense_Mutation_p.G131E|MTTP_ENST00000422897.2_Missense_Mutation_p.G104E NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 104 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) ATCTTCAAAGGAAAAAGCCCA 0.388000 49 96 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118343093 118343093 + Nonsense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr11:118343093C>T ENST00000534358.1 + 3 1242 c.1219C>T c.(1219-1221)Cga>Tga p.R407* KMT2A_ENST00000389506.5_Nonsense_Mutation_p.R407*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R407* NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A CAAAAATATTCGACAGTTCAT 0.443000 64 80 0 0 1 0 0 NDUFAF5 79133 broad.mit.edu 37 20 13797545 13797545 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr20:13797545C>T ENST00000378106.5 + 10 1006 c.887C>T c.(886-888)tCa>tTa p.S296L NDUFAF5_ENST00000475968.1_3'UTR|NDUFAF5_ENST00000463598.1_Missense_Mutation_p.S268L NM_024120.4 NP_077025.2 Q5TEU4 CT007_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 296 mitochondrial respiratory chain complex I assembly extrinsic to mitochondrial inner membrane methyltransferase activity GAAGATGGTTCAGTACCTGCT 0.343000 38 49 0 0 1 0 0 PITPNM1 9600 broad.mit.edu 37 11 67267718 67267718 + Missense_Mutation SNP C C T rs140119237 TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr11:67267718C>T ENST00000356404.3 - 6 1040 c.815G>A c.(814-816)gGg>gAg p.G272E PITPNM1_ENST00000534749.1_Missense_Mutation_p.G272E|PITPNM1_ENST00000436757.2_Missense_Mutation_p.G272E NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 272 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 GCTCGGTTTCCCGGGGGGCTG 0.697000 96 14 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200971309 200971309 + Missense_Mutation SNP T T C TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:200971309T>C ENST00000332129.2 - 9 1698 c.1382A>G c.(1381-1383)aAc>aGc p.N461S KIF21B_ENST00000360529.5_Missense_Mutation_p.N461S|KIF21B_ENST00000461742.2_Missense_Mutation_p.N461S|KIF21B_ENST00000422435.2_Missense_Mutation_p.N461S NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 461 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 TAGCAGCAGGTTGGCCTCCTG 0.637000 50 70 0 0 1 0 0 CYP2B7P 1556 broad.mit.edu 37 19 41430338 41430338 + RNA SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:41430338C>T ENST00000599198.1 + 0 215 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 CTACTCAAATCCTTTCTGAGG 0.567000 90 119 0 0 1 0 0 CPEB4 80315 broad.mit.edu 37 5 173382928 173382928 + Missense_Mutation SNP T T C TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr5:173382928T>C ENST00000265085.5 + 10 3432 c.1978T>C c.(1978-1980)Tat>Cat p.Y660H CPEB4_ENST00000517880.1_Missense_Mutation_p.Y253H|CPEB4_ENST00000520867.1_Missense_Mutation_p.Y635H|CPEB4_ENST00000334035.5_Missense_Mutation_p.Y643H|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000522336.1_Missense_Mutation_p.Y270H NM_030627.2 NP_085130.2 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding protein 4 660 RRM 2. nucleotide binding|RNA binding NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 20 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) AGTTAAGCCATATGTCTTGGA 0.423000 45 88 0 0 1 0 0 TARDBP 23435 broad.mit.edu 37 1 11076934 11076934 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:11076934C>T ENST00000240185.3 + 3 386 c.272C>T c.(271-273)tCa>tTa p.S91L TARDBP_ENST00000439080.2_Intron|TARDBP_ENST00000315091.3_Missense_Mutation_p.S91L NM_007375.3 NP_031401.1 Q13148 TADBP_HUMAN TAR DNA binding protein 91 3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2) 11 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0578) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487) ACAGATGCTTCATCAGCAGTG 0.368000 42 52 0 0 1 0 0 PCDHB13 56123 broad.mit.edu 37 5 140595672 140595672 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr5:140595672C>T ENST00000341948.4 + 1 2164 c.1977C>T c.(1975-1977)caC>caT p.H659H NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 659 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCACGCTGCACGTGCTCCTGG 0.716000 6 181 0 0 1 0 0 ARL10 285598 broad.mit.edu 37 5 175795841 175795841 + Nonsense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr5:175795841G>A ENST00000310389.5 + 3 513 c.417G>A c.(415-417)tgG>tgA p.W139* NM_173664.4 NP_775935.1 Q8N8L6 ARL10_HUMAN ADP-ribosylation factor-like 10 139 GTP binding endometrium(2)|lung(1)|ovary(1) 4 all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.0965) GCTTCTACTGGAAGGAGTTTG 0.672000 69 107 0 0 1 0 0 MID2 11043 broad.mit.edu 37 X 107170294 107170294 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chrX:107170294C>T ENST00000262843.6 + 10 2747 c.2199C>T c.(2197-2199)acC>acT p.T733T RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Silent_p.T703T NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 733 centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 GGATGAAAACCTGTCATTAAG 0.453000 32 13 0 0 1 0 0 TMCO1 54499 broad.mit.edu 37 1 165721392 165721392 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:165721392G>A ENST00000367881.5 - 5 698 c.423C>T c.(421-423)tcC>tcT p.S141S TMCO1_ENST00000464650.1_Silent_p.S6S|TMCO1_ENST00000392129.6_Silent_p.S90S|TMCO1_ENST00000580248.1_Silent_p.S6S Q9UM00 TMCO1_HUMAN transmembrane and coiled-coil domains 1 90 endoplasmic reticulum membrane|Golgi membrane|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) TAGCAAACATGGATTTCATTC 0.308000 17 26 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10432131 10432131 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr17:10432131G>A ENST00000245503.5 - 27 4004 c.3620C>T c.(3619-3621)gCc>gTc p.A1207V MYH2_ENST00000397183.2_Missense_Mutation_p.A1207V|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1207 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CCCAAGCTCGGCCACACTATC 0.542000 76 102 0 0 1 0 0 DENND1A 57706 broad.mit.edu 37 9 126144500 126144500 + Silent SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr9:126144500G>A ENST00000373624.2 - 22 2442 c.2241C>T c.(2239-2241)gcC>gcT p.A747A DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000542603.1_Silent_p.A532A|DENND1A_ENST00000394219.3_Silent_p.A758A NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 747 Pro-rich. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 CTGGACTCAGGGCAGCTCGCC 0.711000 15 5 0 0 1 0 0 TSSK1B 83942 broad.mit.edu 37 5 112769450 112769450 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr5:112769450C>T ENST00000390666.3 - 1 1278 c.1087G>A c.(1087-1089)Gag>Aag p.E363K CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA NM_032028.3 NP_114417.1 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1B 363 cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) GCCCGCGTCTCTGGAGGCTGT 0.602000 25 28 0 0 1 0 0 SLITRK5 26050 broad.mit.edu 37 13 88328648 88328648 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr13:88328648C>T ENST00000325089.6 + 2 1224 c.1005C>T c.(1003-1005)cgC>cgT p.R335R SLITRK5_ENST00000400028.3_Silent_p.R94R NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 335 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) AGGGGACTCGCCAACCCAACA 0.587000 54 114 0 0 1 0 0 CCDC64 92558 broad.mit.edu 37 12 120499606 120499606 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr12:120499606C>T ENST00000397558.2 + 3 738 c.738C>T c.(736-738)atC>atT p.I246I NM_207311.2 NP_997194.2 Q6ZP65 BICR1_HUMAN coiled-coil domain containing 64 246 Golgi to secretory granule transport|neuron projection development centrosome dynactin binding|Rab GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGCACATTATCCGGCTGGAGA 0.512000 40 17 0 0 1 0 0 SPATA16 83893 broad.mit.edu 37 3 172835147 172835147 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr3:172835147C>T ENST00000351008.3 - 2 558 c.375G>A c.(373-375)atG>atA p.M125I NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 125 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) AGACCAACTTCATTTCCACAT 0.418000 79 17 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99641476 99641476 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr14:99641476C>T ENST00000345514.2 - 3 1750 c.1484G>A c.(1483-1485)cGc>cAc p.R495H BCL11B_ENST00000357195.3_Missense_Mutation_p.R566H|BCL11B_ENST00000443726.2_Missense_Mutation_p.R372H NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 566 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) GCCGTTCTCGCGGTTGCGGCT 0.711000 T TLX3 T-ALL 12 15 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53855644 53855644 + Silent SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:53855644C>T ENST00000458035.1 + 4 1833 c.1716C>T c.(1714-1716)atC>atT p.I572I ZNF845_ENST00000595091.1_Silent_p.I572I NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 572 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 ATCAAGCAATCCATGGTATAG 0.398000 35 40 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57077340 57077340 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr11:57077340C>T ENST00000532437.1 - 5 3156 c.2845G>A c.(2845-2847)Gaa>Aaa p.E949K TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.E949K|TNKS1BP1_ENST00000530920.1_5'UTR Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 949 Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) AACTCCTGTTCCTGTGGCTCC 0.587000 92 147 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21032478 21032478 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr12:21032478C>T ENST00000381545.3 + 11 1463 c.1244C>T c.(1243-1245)tCg>tTg p.S415L SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S415L|LST3_ENST00000540229.1_Missense_Mutation_p.S415L|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S415L|LST3_ENST00000381541.3_Intron NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 415 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) TTTCTTACTTCGATGATATCC 0.343000 35 33 0 0 1 0 0 TRDV1 28518 broad.mit.edu 37 14 22564892 22564892 + RNA SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr14:22564892G>A ENST00000390452.2 + 0 361 TGCTCTTGGGGAACTCACAGT 0.438000 21 4 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43699349 43699349 + Missense_Mutation SNP A A C TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:43699349A>C ENST00000405312.3 - 4 1023 c.786T>G c.(784-786)tgT>tgG p.C262W PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.C169W NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 262 Ig-like C2-type 2. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) TCTTAGGTTCACAGGTGAAGG 0.453000 167 221 0 0 1 0 0 OGFOD3 79701 broad.mit.edu 37 17 80367249 80367249 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr17:80367249C>T ENST00000313056.5 - 4 569 c.418G>A c.(418-420)Gga>Aga p.G140R OGFOD3_ENST00000329197.5_Missense_Mutation_p.G140R NM_024648.2|NM_175902.4 NP_078924.1|NP_787098.3 2-oxoglutarate and iron-dependent oxygenase domain containing 3 CTCACCCCTCCGTCAGATCCT 0.483000 28 35 0 0 1 0 0 NEGR1 257194 broad.mit.edu 37 1 72400930 72400930 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:72400930C>T ENST00000357731.4 - 2 480 c.241G>A c.(241-243)Gga>Aga p.G81R NEGR1_ENST00000306821.3_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.G79R|NEGR1_ENST00000467479.1_5'UTR NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 81 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) TTATCACCTCCCGCAAAAATA 0.403000 43 56 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124411309 124411309 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr12:124411309G>A ENST00000409039.3 + 68 11718 c.11693G>A c.(11692-11694)cGa>cAa p.R3898Q DNAH10OS_ENST00000514254.2_3'UTR|CCDC92_ENST00000544798.1_Intron NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3898 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TTAGCAGAGCGAAGTGGTTTT 0.458000 22 33 0 0 1 0 0 GRIN2D 2906 broad.mit.edu 37 19 48945500 48945500 + Missense_Mutation SNP T T C TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:48945500T>C ENST00000263269.3 + 12 2622 c.2534T>C c.(2533-2535)aTg>aCg p.M845T NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 845 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) ATCGACAACATGGCGGGCGTC 0.607000 99 157 0 0 1 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187693133 187693133 + Missense_Mutation SNP G G A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:187693133G>A ENST00000295131.2 - 9 1519 c.1480C>T c.(1480-1482)Ccc>Tcc p.P494S NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 494 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) AGATACCTGGGAAAATGTTGG 0.318000 41 28 0 0 1 0 0 ZFPM1 161882 broad.mit.edu 37 16 88552350 88552350 + Missense_Mutation SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr16:88552350C>T ENST00000319555.3 + 2 366 c.44C>T c.(43-45)tCc>tTc p.S15F ZFPM1_ENST00000569086.1_3'UTR NM_153813.2 NP_722520.2 Q8IX07 FOG1_HUMAN zinc finger protein, FOG family member 1 15 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|transcription factor binding|zinc ion binding central_nervous_system(1)|ovary(2)|urinary_tract(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0478) TCCACAGGTTCCCTCGGAGAC 0.662000 37 41 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19747051 19747051 + Splice_Site SNP C C T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr5:19747051C>T ENST00000507958.1 - 6 1513 c.523_splice c.e6+1 p.G175_splice CDH18_ENST00000506372.1_Splice_Site_p.G175_splice|CDH18_ENST00000382275.1_Splice_Site_p.G175_splice|CDH18_ENST00000274170.4_Splice_Site_p.G175_splice|CDH18_ENST00000511273.1_Splice_Site_p.G175_splice|CDH18_ENST00000502796.1_Splice_Site_p.G175_splice Q13634 CAD18_HUMAN cadherin 18, type 2 175 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TTTTTCTTACCCATATCTGAC 0.308000 32 42 0 0 1 0 0 RP5-884C9.2 0 broad.mit.edu 37 1 38564935 38564936 + RNA INS - - A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:38564935_38564936insA ENST00000432922.1 + 0 301 gactccgtctcaaaaaaaaaaa 0.485 2 4 --- --- --- --- RP11-417J8.2 0 broad.mit.edu 37 1 142572257 142572258 + RNA INS - - G rs145671478 by1000genomes TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:142572257_142572258insG ENST00000415979.2 - 0 215 TAAACAACTTTTTTTACTGGCA 0.347 2 4 --- --- --- --- LOC101927209 101927209 broad.mit.edu 37 1 142664224 142664224 + RNA DEL A A - TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr1:142664224delA ENST00000369381.2 - 0 2507 RP11-417J8.3_ENST00000426408.1_lincRNA aatttacaagaaaaaaaaacc 0.383 2 4 --- --- --- --- AC007563.5 0 broad.mit.edu 37 2 217722107 217722107 + RNA DEL G G - TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr2:217722107delG ENST00000447289.1 + 0 510 AGGGGAAGATGGGGACCAGAG 0.493 2 4 --- --- --- --- CTD-2325B11.1 0 broad.mit.edu 37 4 125156785 125156785 + RNA DEL G G - TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr4:125156785delG ENST00000507299.1 - 0 53 gaaatattcagggaaatgatg 0.308 2 4 --- --- --- --- RP11-427M20.1 0 broad.mit.edu 37 4 134878149 134878149 + RNA DEL G G - TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr4:134878149delG ENST00000507844.1 - 0 223 tgatttgggtggggacacaat 0.438 2 4 --- --- --- --- LOC728339 728339 broad.mit.edu 37 4 190818022 190818022 + RNA DEL A A - rs113369235 TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr4:190818022delA ENST00000511785.1 - 0 231 ttgtgatggtaggggggtggc 0.413 3 5 --- --- --- --- LINC01411 101928176 broad.mit.edu 37 5 173805720 173805720 + RNA DEL C C - TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr5:173805720delC ENST00000510234.1 + 0 82 gggtgccttgccccccaggcc 0.517 3 4 --- --- --- --- FAM50B 26240 broad.mit.edu 37 6 3850771 3850778 + Frame_Shift_Del DEL CATCCTGC CATCCTGC - TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr6:3850771_3850778delCATCCTGC ENST00000380274.1 + 1 1152_1159 c.726_733delCATCCTGC c.(724-735)ctcgfs p.LILP242fs FAM50B_ENST00000380272.3_Frame_Shift_Del_p.LILP242fs Q9Y247 FA50B_HUMAN family with sequence similarity 50, member B 242 nucleus cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3) 17 Ovarian(93;0.0925) all_hematologic(90;0.108) AGGAGGACCTCATCCTGCCGCACTACCA 0.625 38 59 --- --- --- --- HCG23 414764 broad.mit.edu 37 6 32358414 32358415 + RNA INS - - A rs34784784 by1000genomes TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr6:32358414_32358415insA ENST00000426643.1 + 0 128_129 NR_044996.1 ATGTGACTGATAAAACCAATTT 0.366 4 3 --- --- --- --- FAM66D 100132923 broad.mit.edu 37 8 12002444 12002445 + RNA DEL TG TG - TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr8:12002444_12002445delTG ENST00000434078.2 + 0 608 NR_027425.1 tgtgtgtgactgtgtgtgtgtg 0.460 3 4 --- --- --- --- LINC01410 103352539 broad.mit.edu 37 9 66458156 66458157 + RNA INS - - G TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr9:66458156_66458157insG ENST00000424345.1 + 0 67 RNA5SP283_ENST00000365604.1_RNA cctacggtaccgctattaccag 0.624 2 4 --- --- --- --- LINC01410 103352539 broad.mit.edu 37 9 66466800 66466800 + RNA DEL G G - rs139943429 by1000genomes TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr9:66466800delG ENST00000424345.1 + 0 1433 CCTCATCAGAGGACCCCAGAT 0.522 5 10 --- --- --- --- RP11-764K9.1 0 broad.mit.edu 37 9 68406651 68406652 + RNA INS - - AA rs149817678 by1000genomes TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr9:68406651_68406652insAA ENST00000417843.2 - 0 224 aagagaaaaacaaaaaacccta 0.366 2 4 --- --- --- --- RP11-445N18.7 0 broad.mit.edu 37 10 45652086 45652087 + RNA INS - - A rs77869897 TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr10:45652086_45652087insA ENST00000427229.2 + 0 1739 agactcagtctaaaaaaaaaaa 0.431 5 3 --- --- --- --- RP11-574M7.1 0 broad.mit.edu 37 11 50274722 50274722 + RNA DEL A A - TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr11:50274722delA ENST00000528459.1 + 0 184 CCAAGGCTCGAAAACATCTTT 0.368 2 4 --- --- --- --- ACAT1 38 broad.mit.edu 37 11 108009679 108009689 + Frame_Shift_Del DEL AACAGAGGATC AACAGAGGATC - TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr11:108009679_108009689delAACAGAGGATC ENST00000265838.4 + 6 581_591 c.490_500delAACAGAGGATC c.(490-501)afs p.NRGS164fs NM_000019.3 NP_000010.1 P24752 THIL_HUMAN acetyl-CoA acetyltransferase 1 164 acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix acetyl-CoA C-acetyltransferase activity|metal ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2) 10 all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192) Sulfasalazine(DB00795) ATATGTAATGAACAGAGGATCAACACCATAT 0.384 59 122 --- --- --- --- RP3-473L9.4 0 broad.mit.edu 37 12 111815740 111815740 + RNA DEL A A - TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr12:111815740delA ENST00000552663.1 + 0 141 ctgaggcaggagaatcgtttg 0.512 2 4 --- --- --- --- MTUS2 23281 broad.mit.edu 37 13 29599994 29599995 + Frame_Shift_Del DEL GG GG - TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr13:29599994_29599995delGG ENST00000431530.3 + 1 1247_1248 c.1189_1190delGG c.(1189-1191)gfs p.G397fs NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 387 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 AGTCAACCCAGGGGAGCAGGAT 0.569 15 21 --- --- --- --- BMS1P18 414763 broad.mit.edu 37 14 19898079 19898080 + RNA INS - - T TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr14:19898079_19898080insT ENST00000552602.1 - 0 202 cttttcttttcttttttttttt 0.490 4 6 --- --- --- --- HERC2P3 283755 broad.mit.edu 37 15 20616554 20616555 + RNA INS - - A rs7183995 by1000genomes TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr15:20616554_20616555insA ENST00000428453.1 - 0 4041 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 caaaacaaaacaaaaaaaaaac 0.332 2 4 --- --- --- --- LINC01193 348120 broad.mit.edu 37 15 21148310 21148310 + RNA DEL C C - TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr15:21148310delC ENST00000553416.1 + 0 515 NR_040094.1 GTACCACAGGCCTCGGTGGAA 0.667 3 4 --- --- --- --- RP11-184D12.1 0 broad.mit.edu 37 15 36474461 36474462 + RNA INS - - A TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr15:36474461_36474462insA ENST00000561394.1 - 0 136 CAGGATGTTGGAAAAAAAAAAG 0.386 4 3 --- --- --- --- STARD9 57519 broad.mit.edu 37 15 42984789 42984789 + Frame_Shift_Del DEL G G - TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr15:42984789delG ENST00000290607.7 + 23 11070 c.11013delG c.(11011-11013)ctfs p.L3671fs NM_020759.2 NP_065810.2 StAR-related lipid transfer (START) domain containing 9 haematopoietic_and_lymphoid_tissue(1)|stomach(1) 2 CCTTTGATCTGGCCTCATGGA 0.582 2 4 --- --- --- --- MIR7162 102466227 broad.mit.edu 37 15 62538522 62538523 + RNA INS - - GA rs3055695 TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr15:62538522_62538523insGA ENST00000570077.1 - 0 693_694 GGGGGCTCCGGGTAGGGGTTCA 0.609 3 4 --- --- --- --- RP11-165E7.1 0 broad.mit.edu 37 16 5070479 5070479 + RNA DEL C C - TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr16:5070479delC ENST00000588778.1 + 0 365 CCACACAGATCCTGGGACTCT 0.577 2 4 --- --- --- --- RP11-10K17.6 0 broad.mit.edu 37 16 5180670 5180670 + RNA DEL G G - TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr16:5180670delG ENST00000589323.1 + 0 345 AGGGGCAgctgggcacggtgg 0.532 2 4 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74399048 74399048 + RNA DEL A A - TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr16:74399048delA ENST00000429810.2 - 0 176 tatttttagtagagatggagt 0.537 2 4 --- --- --- --- RP11-101O21.1 0 broad.mit.edu 37 17 72067506 72067507 + RNA INS - - T rs139865295 by1000genomes TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr17:72067506_72067507insT ENST00000584003.1 - 0 515 AAGGTGGGGAGCAGTGAGGCGT 0.535 5 6 --- --- --- --- ADGRE4P 326342 broad.mit.edu 37 19 6954925 6954926 + RNA INS - - GAT rs144507846 by1000genomes TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:6954925_6954926insGAT ENST00000600751.1 - 0 1817 NR_024075.1 AGGACTCAATAgatgatgatga 0.342 2 4 --- --- --- --- CTC-360P9.4 0 broad.mit.edu 37 19 32509673 32509674 + RNA DEL AG AG - TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr19:32509673_32509674delAG ENST00000590053.1 - 0 77 agagacagacagagagagagag 0.391 2 4 --- --- --- --- RP5-1164C1.2 0 broad.mit.edu 37 20 4470257 4470257 + RNA DEL G G - TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr20:4470257delG ENST00000419863.1 + 0 41 ctgtggggctggggctggggc 0.602 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11050075 11050077 + RNA DEL GTT GTT - rs55661652 TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr21:11050075_11050077delGTT ENST00000470054.1 - 0 487 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) ATTAAGAAACGTTAATATCAATT 0.281 4 7 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11062343 11062344 + RNA INS - - AG rs148978863 TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr21:11062343_11062344insAG 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) TAGTAAAAGACAGCAACTTTCA 0.267 2 4 --- --- --- --- LOC284930 284930 broad.mit.edu 37 22 48208902 48208902 + RNA DEL G G - TCGA-EB-A6QZ-01A-12D-A32N-08 TCGA-EB-A6QZ-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29ddf94b-7480-4c83-ab28-dc7202e91c05 b9791009-29e6-4baf-aa06-82d79b7e3ca4 g.chr22:48208902delG ENST00000423737.1 + 0 1125 AGGAGGAGCAGGCAGGGGGCC 0.587 2 4 --- --- --- ---