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 TKTL2 84076 broad.mit.edu 37 4 164393680 164393680 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr4:164393680G>T ENST00000280605.3 - 1 1367 c.1207C>A c.(1207-1209)Cag>Aag p.Q403K NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 403 cytoplasm metal ion binding|transketolase activity p.Q403K(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) ATTCGGAGCTGATCGAATGCT 0.488000 19 29 8.28177e-16 1.10227e-15 0.007413 1 0 PPP2R5E 5529 broad.mit.edu 37 14 63863343 63863343 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr14:63863343C>A ENST00000337537.3 - 6 1243 c.641G>T c.(640-642)aGa>aTa p.R214I PPP2R5E_ENST00000422769.2_Missense_Mutation_p.R138I|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.R214I|PPP2R5E_ENST00000553266.1_5'UTR NM_006246.2 NP_006237.1 Q16537 2A5E_HUMAN protein phosphatase 2, regulatory subunit B', epsilon isoform 214 signal transduction cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity p.R214I(1) endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1) 15 OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128) GATAAATGCTCTAAGACCAAG 0.388000 39 120 4.90274e-10 5.93406e-10 0.006230 1 0 DAB1 1600 broad.mit.edu 37 1 57489281 57489281 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:57489281G>T ENST00000371236.2 - 11 1081 c.818C>A c.(817-819)cCa>cAa p.P273Q DAB1_ENST00000420954.2_Missense_Mutation_p.P271Q|DAB1_ENST00000414851.2_Missense_Mutation_p.P255Q|DAB1_ENST00000439789.2_Missense_Mutation_p.P187Q|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.P273Q|DAB1_ENST00000371231.1_Missense_Mutation_p.P306Q O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 306 cell differentiation|nervous system development p.P273Q(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 AGATGAAGATGGGATAAAGGC 0.537000 6 18 3.59834e-05 3.94656e-05 0.001168 1 0 HERC2 8924 broad.mit.edu 37 15 28459892 28459892 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr15:28459892C>A ENST00000261609.7 - 40 6375 c.6267G>T c.(6265-6267)agG>agT p.R2089S NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2089 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.R2089S(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TGTCCCTCGCCCTTTCGGTCT 0.458000 15 40 1.56452e-12 1.9835e-12 0.007413 1 0 RHPN2 85415 broad.mit.edu 37 19 33517469 33517469 + Silent SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr19:33517469C>T ENST00000254260.3 - 3 290 c.255G>A c.(253-255)caG>caA p.Q85Q RHPN2_ENST00000400226.4_5'UTR NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 85 signal transduction perinuclear region of cytoplasm protein binding p.Q85Q(1) NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) CCTTGAGCATCTGCAGGTCTG 0.557000 6 215 0 0 0.003080 0 0 E4F1 1877 broad.mit.edu 37 16 2278460 2278460 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr16:2278460G>T ENST00000301727.4 + 2 293 c.245G>T c.(244-246)tGc>tTc p.C82F E4F1_ENST00000564139.1_Missense_Mutation_p.C82F|E4F1_ENST00000565090.1_Missense_Mutation_p.C82F NM_004424.3 NP_004415.2 Q66K89 E4F1_HUMAN E4F transcription factor 1 82 Required for ubiquitin ligase activity. cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding p.C82F(1) ovary(1) 1 CAGAAGGCCTGCCAGCGGGCC 0.657000 13 27 1.49906e-05 1.65872e-05 0.002450 1 0 CDH5 1003 broad.mit.edu 37 16 66432427 66432427 + Silent SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr16:66432427G>A ENST00000341529.3 + 10 1702 c.1554G>A c.(1552-1554)ttG>ttA p.L518L CDH5_ENST00000539168.1_5'UTR NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 518 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding p.L518F(1)|p.L518L(1) central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) AATTCATCTTGAATACTGAGA 0.473000 10 80 0 0 0.010729 0 0 TMED8 283578 broad.mit.edu 37 14 77808117 77808117 + Missense_Mutation SNP G G C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr14:77808117G>C ENST00000216468.7 - 6 1030 c.975C>G c.(973-975)agC>agG p.S325R NM_213601.1 NP_998766.1 Q6PL24 TMED8_HUMAN transmembrane emp24 protein transport domain containing 8 325 transport integral to membrane p.S325R(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4) 15 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) CAGTCCTTCAGCTGGTGTAGT 0.552000 7 86 0 0 0.004482 0 0 OCM2 4951 broad.mit.edu 37 7 97619394 97619394 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr7:97619394C>A ENST00000257627.4 - 1 114 c.23G>T c.(22-24)aGt>aTt p.S8I OCM2_ENST00000473987.2_5'UTR NM_006188.3 NP_006179.2 P0CE71 OCM2_HUMAN oncomodulin 2 8 calcium ion binding p.S8I(1) lung(4) 4 GTCATCAGCACTGAGCACGTC 0.552000 13 81 2.62699e-14 3.42332e-14 0.003163 1 0 LRRC4B 94030 broad.mit.edu 37 19 51021452 51021452 + Silent SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr19:51021452C>T ENST00000599957.1 - 3 1715 c.1518G>A c.(1516-1518)ccG>ccA p.P506P LRRC4B_ENST00000389201.3_Silent_p.P506P Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 506 Gly-rich. cell junction|integral to membrane|presynaptic membrane p.P506P(1) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) CCGTCCCCCGCGGCTGCAGGG 0.716000 7 7 0 0 0.008291 0 0 PCDH7 5099 broad.mit.edu 37 4 30725202 30725202 + Missense_Mutation SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr4:30725202C>T ENST00000361762.2 + 1 3166 c.2158C>T c.(2158-2160)Cct>Tct p.P720S PCDH7_ENST00000543491.1_Missense_Mutation_p.P720S NM_002589.2 NP_002580.2 O60245 PCDH7_HUMAN protocadherin 7 720 Cadherin 6. homophilic cell adhesion integral to plasma membrane calcium ion binding p.P720S(1)|p.P673S(1) NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 TGGGGGAGATCCTCCCAGATC 0.453000 36 127 0 0 0.008740 0 0 ZFP64 55734 broad.mit.edu 37 20 50769377 50769377 + Missense_Mutation SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr20:50769377C>T ENST00000216923.4 - 6 1703 c.1354G>A c.(1354-1356)Gag>Aag p.E452K ZFP64_ENST00000371515.4_Missense_Mutation_p.E450K|ZFP64_ENST00000346617.4_Missense_Mutation_p.E398K|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000477786.1_Intron NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E452K(2) breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 TTCTTACTCTCACTGTACTCA 0.587000 11 94 0 0 0.013537 0 0 KRTAP10-7 386675 broad.mit.edu 37 21 46021524 46021524 + Missense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr21:46021524G>A ENST00000380102.2 + 1 1028 c.1003G>A c.(1003-1005)Gcc>Acc p.A335T TSPEAR_ENST00000323084.4_Intron NM_198689.2 NP_941962.1 P60409 KR107_HUMAN keratin associated protein 10-7 335 30 X 5 AA repeats of C-C-X(3). keratin filament p.A335T(1) breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 CTCCTGCTGCGCCCCCACCTC 0.716000 5 66 0 0 0.001168 0 0 IQCH 64799 broad.mit.edu 37 15 67713788 67713788 + Missense_Mutation SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr15:67713788C>T ENST00000335894.4 + 16 2444 c.2378C>T c.(2377-2379)tCa>tTa p.S793L IQCH_ENST00000358767.3_Missense_Mutation_p.S529L|IQCH_ENST00000546225.1_Missense_Mutation_p.S450L|IQCH_ENST00000360277.4_Missense_Mutation_p.S454L|IQCH-AS1_ENST00000559298.1_lincRNA NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 793 p.S793L(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) CCTCAGACCTCAGTGGATCCC 0.498000 44 67 0 0 0.010771 0 0 DEPDC7 91614 broad.mit.edu 37 11 33047270 33047270 + Missense_Mutation SNP C C G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:33047270C>G ENST00000311388.3 + 2 488 c.112C>G c.(112-114)Caa>Gaa p.Q38E DEPDC7_ENST00000241051.3_Missense_Mutation_p.Q47E NM_139160.2 NP_631899.2 Q96QD5 DEPD7_HUMAN DEP domain containing 7 47 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.Q38E(1)|p.Q47E(1) endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 17 AAACACTCTTCAAACACAAGT 0.398000 62 106 0 0 0.014410 0 0 OR8H2 390151 broad.mit.edu 37 11 55873168 55873168 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:55873168C>A ENST00000313503.1 + 1 650 c.650C>A c.(649-651)tCc>tAc p.S217Y NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S217Y(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) ATATCTGCATCCTATGTGTTC 0.408000 HNSCC(53;0.14) 47 129 1.86633e-21 2.62409e-21 0.014410 1 0 IGF1R 3480 broad.mit.edu 37 15 99459900 99459900 + Splice_Site SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr15:99459900G>T ENST00000268035.6 + 10 2607 c.e10-1 IGF1R_ENST00000558762.1_Splice_Site NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding p.?(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) TTTCCGAGAAGACAAAATCCC 0.453000 27 35 1.26454e-06 1.4375e-06 0.005443 1 0 HRNR 388697 broad.mit.edu 37 1 152192637 152192637 + Missense_Mutation SNP C C T rs138042599 byFrequency TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:152192637C>T ENST00000368801.2 - 3 1543 c.1468G>A c.(1468-1470)Ggc>Agc p.G490S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 490 keratinization calcium ion binding|protein binding p.G490S(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTCCGTGGCCGGAGGAGTGA 0.547000 46 301 0 0 0.014410 0 0 HCN4 10021 broad.mit.edu 37 15 73617717 73617717 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr15:73617717G>T ENST00000261917.3 - 5 2652 c.1659C>A c.(1657-1659)gaC>gaA p.D553E NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 553 D -> N (in a patient with cardiac arrhythmia). blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity p.D553E(1) NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) GCTCGTAGTAGTCGTGGATGC 0.652000 72 106 4.81439e-37 7.14517e-37 0.014410 1 0 SPTBN2 6712 broad.mit.edu 37 11 66475714 66475714 + Silent SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:66475714C>T ENST00000533211.1 - 12 1579 c.1248G>A c.(1246-1248)gaG>gaA p.E416E SPTBN2_ENST00000529997.1_Silent_p.E416E|SPTBN2_ENST00000309996.2_Silent_p.E416E O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 416 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton p.E416E(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 GGCGGATGAGCTCGGTGCGCA 0.687000 14 35 0 0 0.004007 0 0 SLITRK1 114798 broad.mit.edu 37 13 84455614 84455614 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr13:84455614G>T ENST00000377084.2 - 1 914 c.29C>A c.(28-30)aCg>aAg p.T10K NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 10 integral to membrane p.T10K(1) NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) ACAAAGAGACGTCTCCAGCAA 0.473000 19 80 7.88262e-20 1.09189e-19 0.003330 1 0 CD69 969 broad.mit.edu 37 12 9906180 9906180 + Missense_Mutation SNP T T C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr12:9906180T>C ENST00000228434.3 - 5 577 c.497A>G c.(496-498)aAc>aGc p.N166S NM_001781.2 NP_001772.1 Q07108 CD69_HUMAN CD69 molecule 166 C-type lectin. integral to plasma membrane sugar binding|transmembrane receptor activity p.N166S(1) endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 CCCTGTAACGTTGAACCTGTC 0.358000 2 25 0 0 0.004672 0 0 DROSHA 29102 broad.mit.edu 37 5 31421442 31421442 + Missense_Mutation SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr5:31421442C>T ENST00000511367.2 - 29 3706 c.3462G>A c.(3460-3462)atG>atA p.M1154I DROSHA_ENST00000513349.1_Missense_Mutation_p.M1117I|DROSHA_ENST00000442743.1_Missense_Mutation_p.M1117I|DROSHA_ENST00000344624.3_Missense_Mutation_p.M1154I NM_013235.4 NP_037367.3 Q9NRR4 RNC_HUMAN drosha, ribonuclease type III 1154 Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 2. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity p.M1154I(1) breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 CTACCAGTTGCATTATGGAGT 0.363000 44 144 0 0 0.013114 0 0 OR5A2 219981 broad.mit.edu 37 11 59189984 59189984 + Missense_Mutation SNP C C G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:59189984C>G ENST00000302040.4 - 1 465 c.443G>C c.(442-444)gGc>gCc p.G148A NM_001001954.1 NP_001001954.1 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, member 2 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G148A(1) large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 21 CACATAGGCGCCAACCACCAT 0.453000 20 55 0 0 0.010504 0 0 SLIT1 6585 broad.mit.edu 37 10 98766421 98766421 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr10:98766421C>A ENST00000266058.4 - 32 3643 c.3398G>T c.(3397-3399)gGg>gTg p.G1133V SLIT1_ENST00000371070.4_Missense_Mutation_p.G1133V|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 1133 EGF-like 6. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding p.G1133V(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GCACTCAGTCCCCTCACAGGG 0.612000 23 24 2.48779e-11 3.11182e-11 0.005443 1 0 FOXI1 2299 broad.mit.edu 37 5 169535247 169535247 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr5:169535247C>A ENST00000306268.6 + 2 830 c.769C>A c.(769-771)Cca>Aca p.P257T FOXI1_ENST00000449804.2_Intron Q12951 FOXI1_HUMAN forkhead box I1 257 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding p.P257T(1) breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGGAGCCTCACCAGGGGGCAC 0.612000 Pendred syndrome 39 69 2.45108e-15 3.22783e-15 0.008740 1 0 C14orf166B 145497 broad.mit.edu 37 14 77297578 77297578 + Missense_Mutation SNP G G C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr14:77297578G>C ENST00000393774.3 + 3 374 c.250G>C c.(250-252)Gag>Cag p.E84Q C14orf166B_ENST00000450042.2_Missense_Mutation_p.E67Q|C14orf166B_ENST00000460005.1_3'UTR NM_194287.2 NP_919263.2 Q0VAA2 CN16B_HUMAN chromosome 14 open reading frame 166B 84 p.E84Q(1) breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) TGGACAAAAGGAGCTGTACCT 0.517000 15 79 0 0 0.006122 0 0 ZNF521 25925 broad.mit.edu 37 18 22807089 22807089 + Missense_Mutation SNP T T A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr18:22807089T>A ENST00000361524.3 - 4 941 c.793A>T c.(793-795)Att>Ttt p.I265F ZNF521_ENST00000584787.1_Missense_Mutation_p.I45F|ZNF521_ENST00000538137.2_Missense_Mutation_p.I265F NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 265 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding p.I265F(1) NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) CACTCTGCAATGTGTTTTTGG 0.552000 T PAX5 ALL 34 74 0 0 0.004289 0 0 CGN 57530 broad.mit.edu 37 1 151503155 151503155 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:151503155G>T ENST00000271636.7 + 13 2637 c.2504G>T c.(2503-2505)cGa>cTa p.R835L NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 829 Glu-rich. myosin complex|tight junction actin binding|motor activity p.R835L(1) NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GTGCTCCGGCGAGGCAAGGCT 0.652000 3 3 0.00909568 0.00934556 0.009096 1 0 SMARCC2 6601 broad.mit.edu 37 12 56563453 56563453 + Missense_Mutation SNP T T G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr12:56563453T>G ENST00000394023.3 - 25 2680 c.2575A>C c.(2575-2577)Aag>Cag p.K859Q RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.K828Q|SMARCC2_ENST00000347471.4_Missense_Mutation_p.K859Q|SMARCC2_ENST00000550164.1_Missense_Mutation_p.K859Q NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 828 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity p.K828Q(2) breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) tgcccttcctttggctccttc 0.597000 12 38 0 0 0.014323 0 0 ABCA1 19 broad.mit.edu 37 9 107618201 107618201 + Missense_Mutation SNP G G C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr9:107618201G>C ENST00000423487.2 - 8 1185 c.889C>G c.(889-891)Cat>Gat p.H297D ABCA1_ENST00000374736.3_Intron O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 0 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AAGGAGAAATGTTTCAAAATA 0.453000 4 45 0 0 0.001168 0 0 IPO11 51194 broad.mit.edu 37 5 61922992 61922992 + Silent SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr5:61922992G>A ENST00000325324.6 + 30 2944 c.2775G>A c.(2773-2775)aaG>aaA p.K925K IPO11_ENST00000512177.1_3'UTR|IPO11_ENST00000409534.1_Silent_p.K44K|IPO11_ENST00000409296.3_Silent_p.K965K NM_016338.4 NP_057422.3 Q9UI26 IPO11_HUMAN importin 11 925 cytoplasm|nucleus protein binding p.K925K(1) endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2) 30 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) TGGCCCTGAAGGACCCTGTTC 0.463000 21 37 0 0 0.004656 0 0 SPAG16 79582 broad.mit.edu 37 2 214794784 214794784 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr2:214794784G>T ENST00000331683.5 + 12 1410 c.1315G>T c.(1315-1317)Gtg>Ttg p.V439L SPAG16_ENST00000374309.3_Missense_Mutation_p.V345L NM_024532.4 NP_078808.3 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 439 cilium assembly cilium axoneme|flagellar axoneme p.V439L(2) endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) CAGCCGCGCAGTGTGGTCCTG 0.438000 14 105 2.31682e-05 2.5485e-05 0.003163 1 0 ABCB5 340273 broad.mit.edu 37 7 20782586 20782586 + Silent SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr7:20782586C>A ENST00000404938.2 + 25 3763 c.3111C>A c.(3109-3111)tcC>tcA p.S1037S ABCB5_ENST00000258738.6_Silent_p.S592S NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 592 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity p.S592S(1)|p.S1037S(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GTGGCTTATCCCTCAGTATTG 0.478000 14 92 1.3612e-06 1.5427e-06 0.003163 1 0 EMILIN1 11117 broad.mit.edu 37 2 27306318 27306318 + Missense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr2:27306318G>A ENST00000380320.4 + 4 2378 c.1879G>A c.(1879-1881)Gac>Aac p.D627N NM_007046.3 NP_008977.1 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 627 cell adhesion collagen p.D627N(1) breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGGGCCCCTGGACGGCTTCAG 0.662000 7 34 0 0 0.002450 0 0 C6 729 broad.mit.edu 37 5 41186284 41186284 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr5:41186284C>A ENST00000263413.3 - 6 878 c.614G>T c.(613-615)aGa>aTa p.R205I C6_ENST00000337836.5_Missense_Mutation_p.R205I|C6_ENST00000475349.1_Intron NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 205 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding p.R205I(1) central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GACTTCTCCTCTGGGCTCTCC 0.368000 13 48 9.05144e-12 1.13981e-11 0.001855 1 0 GLB1L2 89944 broad.mit.edu 37 11 134217327 134217327 + Splice_Site SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:134217327G>A ENST00000535456.2 + 5 746 c.558_splice c.e5+1 p.Q186_splice GLB1L2_ENST00000339772.7_Splice_Site_p.Q186_splice|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Splice_Site_p.Q186_splice NM_138342.3 NP_612351.2 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 186 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds p.Q186Q(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) TGCCACTCCAGGTACAAGCAA 0.507000 19 283 0 0 0.007413 0 0 RAI1 10743 broad.mit.edu 37 17 17701269 17701269 + Silent SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr17:17701269G>A ENST00000353383.1 + 3 5476 c.5007G>A c.(5005-5007)acG>acA p.T1669T RAI1_ENST00000261641.6_Intron NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1669 cytoplasm|nucleus zinc ion binding p.T1669T(1) breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) TCTCCTCCACGATGCACTTGG 0.637000 11 79 0 0 0.013537 0 0 OR4C13 283092 broad.mit.edu 37 11 49974153 49974153 + Missense_Mutation SNP T T C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:49974153T>C ENST00000555099.1 + 1 211 c.179T>C c.(178-180)tTc>tCc p.F60S NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F60S(1) autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 ATGTACTTTTTCCTGGCCTAT 0.428000 30 204 0 0 0.012213 0 0 OR4M1 441670 broad.mit.edu 37 14 20248603 20248603 + Missense_Mutation SNP G G C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr14:20248603G>C ENST00000315957.4 + 1 203 c.122G>C c.(121-123)gGa>gCa p.G41A NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G41A(1) NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATCCTACCAGGAAATATCCTT 0.423000 84 395 0 0 0.014410 0 0 USP4 7375 broad.mit.edu 37 3 49329950 49329950 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr3:49329950G>T ENST00000351842.4 - 14 1832 c.1824C>A c.(1822-1824)agC>agA p.S608R USP4_ENST00000265560.4_Missense_Mutation_p.S655R NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 655 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.S655R(1) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) CACCTTCACAGCTGTTCCTGG 0.502000 7 7 5.18039e-06 5.8008e-06 0.003080 1 0 LPAL2 80350 broad.mit.edu 37 6 160905137 160905137 + RNA SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr6:160905137G>A ENST00000335388.5 - 0 990 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) CGGGATAACAGTCAGAGGCAC 0.517000 35 68 0 0 0.006999 0 0 VPS26B 112936 broad.mit.edu 37 11 134095109 134095109 + Silent SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:134095109C>T ENST00000281187.5 + 1 571 c.93C>T c.(91-93)gaC>gaT p.D31D VPS26B_ENST00000525095.2_Silent_p.D31D NM_052875.3 NP_443107.1 Q4G0F5 VP26B_HUMAN vacuolar protein sorting 26 homolog B (S. pombe) 31 protein transport|vacuolar transport cytosol|retromer complex p.D31D(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7) 14 all_hematologic(175;0.127) all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216) AGACGGAGGACGGGAAGAAGG 0.592000 19 101 0 0 0.008871 0 0 BSN 8927 broad.mit.edu 37 3 49692179 49692179 + Silent SNP C C G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr3:49692179C>G ENST00000296452.4 + 5 5304 c.5190C>G c.(5188-5190)acC>acG p.T1730T NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1730 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding p.T1730T(1) breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CTACTGCCACCACCGTGAGCA 0.582000 111 191 0 0 0.014410 0 0 ZNF572 137209 broad.mit.edu 37 8 125987892 125987892 + Missense_Mutation SNP G G C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr8:125987892G>C ENST00000319286.5 + 2 164 c.10G>C c.(10-12)Gaa>Caa p.E4Q NM_152412.2 NP_689625.2 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E4Q(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 31 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) GATGGAGCAAGAAAAAAAACT 0.398000 HNSCC(60;0.17) 18 101 0 0 0.007413 0 0 OR8H3 390152 broad.mit.edu 37 11 55890059 55890059 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:55890059G>T ENST00000313472.3 + 1 211 c.211G>T c.(211-213)Gac>Tac p.D71Y NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D71Y(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) GTCATTTATTGACCTCAGTTA 0.438000 27 492 1.95512e-22 2.7593e-22 0.014410 1 0 KCNT2 343450 broad.mit.edu 37 1 196309547 196309547 + Silent SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:196309547C>T ENST00000367433.5 - 16 1808 c.1707G>A c.(1705-1707)caG>caA p.Q569Q KCNT2_ENST00000367431.4_Silent_p.Q519Q|KCNT2_ENST00000451324.2_Silent_p.Q180Q|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Silent_p.Q569Q Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 569 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity p.Q569Q(1) NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TGCTTTTTCTCTGCTGGTCTT 0.343000 18 71 0 0 0.007413 0 0 OGDHL 55753 broad.mit.edu 37 10 50964932 50964932 + Silent SNP G G T rs140510079 TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr10:50964932G>T ENST00000374103.4 - 3 350 c.265C>A c.(265-267)Cgg>Agg p.R89R OGDHL_ENST00000419399.1_Intron|OGDHL_ENST00000432695.1_Intron NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 89 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.R89R(1) central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 GAAGGGGGCCGTGGCTGAGCA 0.597000 37 103 5.43694e-19 7.4484e-19 0.005524 1 0 ROBO3 64221 broad.mit.edu 37 11 124742335 124742335 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:124742335G>T ENST00000397801.1 + 8 1409 c.1217G>T c.(1216-1218)aGa>aTa p.R406I ROBO3_ENST00000538940.1_Missense_Mutation_p.R384I NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 406 Ig-like C2-type 4. axon midline choice point recognition integral to membrane receptor activity p.R406I(2) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) GTGTCTCCAAGAGGCCAACTT 0.612000 46 78 2.27459e-33 3.33607e-33 0.014410 1 0 NOC4L 79050 broad.mit.edu 37 12 132636668 132636668 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr12:132636668G>T ENST00000330579.1 + 14 1398 c.1357G>T c.(1357-1359)Gcc>Tcc p.A453S NOC4L_ENST00000538784.1_Missense_Mutation_p.A68S NM_024078.1 NP_076983.1 Q9BVI4 NOC4L_HUMAN nucleolar complex associated 4 homolog (S. cerevisiae) 453 rRNA processing integral to membrane|nuclear membrane|nucleolus protein binding p.A453S(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2) 14 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05) GTCCAAAGCCGCCAGCGTCAT 0.692000 16 21 1.99824e-07 2.31375e-07 0.004990 1 0 RGS3 5998 broad.mit.edu 37 9 116269565 116269565 + Splice_Site SNP A A G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr9:116269565A>G ENST00000374140.2 + 14 1294 c.e14-1 RGS3_ENST00000394646.3_Splice_Site|RGS3_ENST00000374136.1_Splice_Site|RGS3_ENST00000317613.6_Splice_Site|RGS3_ENST00000343817.5_Splice_Site|RGS3_ENST00000350696.5_Splice_Site NM_144488.4 NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity p.?(3) cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 CCCACCTTCCAGGAGCTGCCC 0.632000 8 28 0 0 0.004482 0 0 ANK2 287 broad.mit.edu 37 4 114279468 114279468 + Missense_Mutation SNP G G C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr4:114279468G>C ENST00000357077.4 + 38 9747 c.9694G>C c.(9694-9696)Gat>Cat p.D3232H ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.D3199H|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3199 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.D3232H(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GCAAACGGGTGATATACCTCC 0.488000 39 122 0 0 0.006230 0 0 NXPE4 54827 broad.mit.edu 37 11 114441716 114441716 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:114441716G>T ENST00000375478.3 - 6 1759 c.1579C>A c.(1579-1581)Cca>Aca p.P527T NXPE4_ENST00000424261.2_Missense_Mutation_p.P243T NM_001077639.1 NP_001071107.1 neurexophilin and PC-esterase domain family, member 4 p.P527T(1) TGTTGAGGTGGGTGTACATTA 0.299000 10 39 7.03913e-09 8.38418e-09 0.013537 1 0 TRIM48 79097 broad.mit.edu 37 11 55036743 55036743 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:55036743C>A ENST00000417545.2 + 5 690 c.604C>A c.(604-606)Ccc>Acc p.P202T NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 186 intracellular zinc ion binding p.P186T(1)|p.P202T(1) endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 GCTGCACATGCCCCAGCCTCT 0.502000 9 45 0.000274275 0.000291417 0.004482 1 0 RIMS1 22999 broad.mit.edu 37 6 72678738 72678738 + Missense_Mutation SNP G G C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr6:72678738G>C ENST00000264839.7 + 2 217 c.217G>C c.(217-219)Gct>Cct p.A73P RIMS1_ENST00000491071.2_Missense_Mutation_p.A73P|RIMS1_ENST00000521978.1_Missense_Mutation_p.A73P|RIMS1_ENST00000522291.1_Missense_Mutation_p.A73P|RIMS1_ENST00000517960.1_Missense_Mutation_p.A73P|RIMS1_ENST00000518273.1_Missense_Mutation_p.A73P|RIMS1_ENST00000348717.5_Missense_Mutation_p.A73P|RIMS1_ENST00000520567.1_Missense_Mutation_p.A73P Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 73 RabBD. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding p.A73P(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) ACCAAGAAATGCTGAAAACCA 0.453000 5 69 0 0 0.006214 0 0 BAIAP3 8938 broad.mit.edu 37 16 1394115 1394115 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr16:1394115C>A ENST00000324385.5 + 16 1742 c.1584C>A c.(1582-1584)agC>agA p.S528R BAIAP3_ENST00000397488.2_Missense_Mutation_p.S510R|BAIAP3_ENST00000426824.3_Missense_Mutation_p.S493R|BAIAP3_ENST00000568887.1_Missense_Mutation_p.S465R|BAIAP3_ENST00000397489.1_Missense_Mutation_p.S510R|BAIAP3_ENST00000562208.1_Missense_Mutation_p.S470R|BAIAP3_ENST00000421665.2_Missense_Mutation_p.S457R NM_003933.4 NP_003924.2 O94812 BAIP3_HUMAN BAI1-associated protein 3 528 G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding p.S528R(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) CCACCAACAGCACCGCTGTCC 0.682000 7 33 7.03913e-09 8.38418e-09 0.013537 1 0 PLCB1 23236 broad.mit.edu 37 20 8769149 8769149 + Silent SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr20:8769149G>A ENST00000378641.3 + 28 3640 c.3165G>A c.(3163-3165)aaG>aaA p.K1055K PLCB1_ENST00000378637.2_Silent_p.K1055K|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Silent_p.K1055K NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 1055 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity p.K1055K(2) NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 ATCAGTTAAAGAAGCTCAAAG 0.363000 9 22 0 0 0.006214 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36217805 36217805 + Nonsense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr14:36217805C>A ENST00000258840.6 - 10 1627 c.1237G>T c.(1237-1239)Gag>Tag p.E413* RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.E413*|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Nonsense_Mutation_p.E413*|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.E413* Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 413 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity p.E413*(2) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CGAAATATCTCTGTCACAAAG 0.323000 9 17 3.86212e-05 4.21117e-05 0.008291 1 0 TRIM29 23650 broad.mit.edu 37 11 119996524 119996524 + Missense_Mutation SNP T T A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:119996524T>A ENST00000341846.5 - 4 1629 c.1208A>T c.(1207-1209)gAg>gTg p.E403V TRIM29_ENST00000541857.1_Missense_Mutation_p.E136V|TRIM29_ENST00000529044.1_Missense_Mutation_p.E142V NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 403 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E403V(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) TCCCAGGCCCTCCCCCTCCAG 0.532000 20 95 0 0 0.012319 0 0 VPS13A 23230 broad.mit.edu 37 9 79947017 79947017 + Missense_Mutation SNP T T C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr9:79947017T>C ENST00000360280.3 + 46 6343 c.6083T>C c.(6082-6084)tTa>tCa p.L2028S VPS13A_ENST00000376636.3_Missense_Mutation_p.L1989S|VPS13A_ENST00000357409.5_Missense_Mutation_p.L2028S|VPS13A_ENST00000376634.4_Missense_Mutation_p.L2028S NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 2028 Golgi to endosome transport|protein transport intracellular protein binding p.L2028S(3) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 AACATACCATTAGGATCTTAC 0.338000 15 55 0 0 0.004007 0 0 SPINK5 11005 broad.mit.edu 37 5 147491409 147491409 + Missense_Mutation SNP C C G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr5:147491409C>G ENST00000359874.3 + 19 1844 c.1771C>G c.(1771-1773)Cta>Gta p.L591V SPINK5_ENST00000256084.7_Missense_Mutation_p.L591V|SPINK5_ENST00000398454.1_Missense_Mutation_p.L591V NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 591 Kazal-like 9. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity p.L591V(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TATTGAGGGTCTAGATGGGAA 0.512000 40 79 0 0 0.006999 0 0 RGPD4 285190 broad.mit.edu 37 2 108487260 108487260 + Nonsense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr2:108487260G>T ENST00000408999.3 + 20 2877 c.2800G>T c.(2800-2802)Gaa>Taa p.E934* RGPD4_ENST00000354986.4_Nonsense_Mutation_p.E934* NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 934 intracellular transport binding p.E934*(1) breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 AGGAAATCAAGAAAAGGAAAG 0.413000 9 214 3.86212e-05 4.21117e-05 0.008291 1 0 ICOSLG 23308 broad.mit.edu 37 21 45655295 45655295 + Missense_Mutation SNP T T C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr21:45655295T>C ENST00000407780.3 - 4 684 c.557A>G c.(556-558)aAt>aGt p.N186S ICOSLG_ENST00000400377.3_Missense_Mutation_p.N69S|ICOSLG_ENST00000400379.3_Missense_Mutation_p.N186S|ICOSLG_ENST00000344330.4_Missense_Mutation_p.N186S O75144 ICOSL_HUMAN inducible T-cell co-stimulator ligand 186 Ig-like C2-type. B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation receptor binding p.N186S(1) endometrium(2)|lung(1)|stomach(1)|urinary_tract(1) 5 Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772) GACGGTGTCATTCTGCAGAGC 0.557000 4 55 0 0 0.009096 0 0 NCOA6 23054 broad.mit.edu 37 20 33330872 33330872 + Missense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr20:33330872G>A ENST00000374796.2 - 12 5758 c.3188C>T c.(3187-3189)cCc>cTc p.P1063L NCOA6_ENST00000359003.2_Missense_Mutation_p.P1063L Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1063 NCOA1-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.P1063L(1) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CTGGGAGTCGGGGTTCAGGGG 0.527000 78 211 0 0 0.014410 0 0 ARMC5 79798 broad.mit.edu 37 16 31476451 31476451 + Missense_Mutation SNP A A T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr16:31476451A>T ENST00000457010.2 + 4 2808 c.2107A>T c.(2107-2109)Agc>Tgc p.S703C ARMC5_ENST00000408912.3_Intron|ARMC5_ENST00000538189.1_Intron|ARMC5_ENST00000268314.4_Intron|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000563544.1_Intron NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 0 binding p.S703C(1) central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CTCTAGATGCAGCCCCGCGCC 0.622000 20 70 0 0 0.010504 0 0 YIPF5 81555 broad.mit.edu 37 5 143541875 143541875 + Missense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr5:143541875G>A ENST00000274496.5 - 5 652 c.518C>T c.(517-519)aCa>aTa p.T173I YIPF5_ENST00000448443.2_Missense_Mutation_p.T173I|YIPF5_ENST00000513112.1_Missense_Mutation_p.T119I NM_001271732.1|NM_030799.7 NP_001258661.1|NP_110426.4 Q969M3 YIPF5_HUMAN Yip1 domain family, member 5 173 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane p.T173I(1) large_intestine(2)|lung(5)|ovary(1)|skin(1) 9 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) TGAAACACCTGTCATACTCAT 0.393000 33 61 0 0 0.005524 0 0 DROSHA 29102 broad.mit.edu 37 5 31401639 31401639 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr5:31401639C>A ENST00000511367.2 - 35 4269 c.4025G>T c.(4024-4026)cGg>cTg p.R1342L DROSHA_ENST00000513349.1_Missense_Mutation_p.R1305L|DROSHA_ENST00000442743.1_Missense_Mutation_p.R1305L|DROSHA_ENST00000344624.3_Missense_Mutation_p.R1342L NM_013235.4 NP_037367.3 Q9NRR4 RNC_HUMAN drosha, ribonuclease type III 1342 Necessary for interaction with DGCR8 and pri-miRNA processing activity. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity p.R1342L(1) breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 TTCGATGAACCGCTTCTGATG 0.343000 13 122 0.00136819 0.00142934 0.013537 1 0 ZNF799 90576 broad.mit.edu 37 19 12502033 12502033 + Silent SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr19:12502033G>A ENST00000419318.1 - 4 1832 c.1083C>T c.(1081-1083)caC>caT p.H361H CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Silent_p.H393H Q96GE5 ZN799_HUMAN zinc finger protein 799 393 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H180H(1)|p.H393H(1) breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TCTTGCATTTGTGAGGTCCAT 0.418000 59 101 0 0 0.014410 0 0 OR5B3 441608 broad.mit.edu 37 11 58169967 58169967 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:58169967C>A ENST00000309403.2 - 1 915 c.916G>T c.(916-918)Gca>Tca p.A306S NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A306S(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) GACAATTTTGCCTTCTCAACA 0.413000 12 91 2.23348e-06 2.51603e-06 0.004007 1 0 PCDH9 5101 broad.mit.edu 37 13 67801090 67801090 + Missense_Mutation SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr13:67801090C>T ENST00000544246.1 - 2 2174 c.1483G>A c.(1483-1485)Gat>Aat p.D495N PCDH9_ENST00000328454.5_Missense_Mutation_p.D495N|PCDH9_ENST00000456367.1_Missense_Mutation_p.D495N|PCDH9_ENST00000377865.2_Missense_Mutation_p.D495N|PCDH9_ENST00000377861.3_Missense_Mutation_p.D495N NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 495 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D495N(1) breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) CTGTCTTCATCTGTGGCACTA 0.428000 14 111 0 0 0.002450 0 0 SV2A 9900 broad.mit.edu 37 1 149881043 149881043 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:149881043C>A ENST00000369146.3 - 7 1750 c.1260G>T c.(1258-1260)tgG>tgT p.W420C SV2A_ENST00000369145.1_Missense_Mutation_p.W420C NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 420 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity p.W420C(1) breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) CCCGGACCCCCCAGCGCTGGT 0.562000 26 56 2.14196e-07 2.4725e-07 0.007291 1 0 JADE3 9767 broad.mit.edu 37 X 46913645 46913645 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chrX:46913645G>T ENST00000218343.4 + 9 1356 c.1058G>T c.(1057-1059)gGa>gTa p.G353V PHF16_ENST00000397189.1_Missense_Mutation_p.G353V NM_014735.3 NP_055550.1 Q92613 JADE3_HUMAN 353 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding p.G353V(1) NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2) 33 CTAGATGAGGGAGACGAAGTG 0.488000 7 12 0.000274275 0.000291417 0.004482 1 0 RFX4 5992 broad.mit.edu 37 12 107114570 107114570 + Missense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr12:107114570G>A ENST00000392842.1 + 13 1681 c.1267G>A c.(1267-1269)Gtg>Atg p.V423M RFX4_ENST00000357881.4_Missense_Mutation_p.V432M|RP11-482D24.3_ENST00000552415.1_RNA|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.V329M NM_213594.2 NP_998759.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) 423 Necessary for dimerization. V -> E (in Ref. 4; BAC11288). transcription, DNA-dependent nucleus DNA binding p.V432M(1)|p.V423M(1)|p.V329M(1) NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 CTTGAAGAAAGTGGCCCAGCA 0.507000 43 57 0 0 0.010771 0 0 UBQLN3 50613 broad.mit.edu 37 11 5530631 5530631 + Missense_Mutation SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:5530631C>T ENST00000311659.4 - 2 305 c.158G>A c.(157-159)cGc>cAc p.R53H HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 53 Ubiquitin-like. p.R53H(1) 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) GGCCTTAAAGCGCTGAGATAT 0.502000 60 117 0 0 0.014410 0 0 GPR12 2835 broad.mit.edu 37 13 27333929 27333929 + Silent SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr13:27333929C>A ENST00000405846.3 - 2 257 c.36G>T c.(34-36)ctG>ctT p.L12L GPR12_ENST00000381436.2_Silent_p.L12L NM_005288.3 NP_005279.1 P47775 GPR12_HUMAN G protein-coupled receptor 12 12 integral to plasma membrane p.L12L(1) endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(5;5.77e-05) Breast(139;0.198) Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184) AATCCCGAGGCAGCCCGCTTA 0.502000 21 73 0.00332997 0.00345947 0.003330 1 0 GAR1 54433 broad.mit.edu 37 4 110739126 110739126 + Missense_Mutation SNP C C G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr4:110739126C>G ENST00000226796.6 + 3 513 c.249C>G c.(247-249)gaC>gaG p.D83E GAR1_ENST00000394631.3_Missense_Mutation_p.D83E NM_018983.3 NP_061856.1 Q9NY12 GAR1_HUMAN GAR1 ribonucleoprotein 83 rRNA processing|snRNA pseudouridine synthesis box H/ACA snoRNP complex|Cajal body cation channel activity|pseudouridine synthase activity|snoRNA binding p.D83E(1) kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 9 GTGAAGATGACATAGTTTGTA 0.343000 31 97 0 0 0.004289 0 0 KRTAP10-11 386678 broad.mit.edu 37 21 46067109 46067109 + Missense_Mutation SNP G G C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr21:46067109G>C ENST00000334670.8 + 1 779 c.734G>C c.(733-735)tGc>tCc p.C245S TSPEAR_ENST00000323084.4_Intron NM_198692.2 NP_941965.2 P60411 KR109_HUMAN keratin associated protein 10-11 239 25 X 5 AA repeats of C-C-X(3). keratin filament p.C245S(1) NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 12 CACCCCGTGTGCAGGTCCACC 0.682000 31 151 0 0 0.012213 0 0 MROH2B 133558 broad.mit.edu 37 5 41004585 41004585 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr5:41004585G>T ENST00000399564.4 - 37 4507 c.4057C>A c.(4057-4059)Ctg>Atg p.L1353M MROH2B_ENST00000506092.2_Missense_Mutation_p.L908M NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B p.L1353M(1) AGGTGATACAGGCCTCTGATG 0.408000 24 101 9.95505e-16 1.32028e-15 0.014323 1 0 CYYR1 116159 broad.mit.edu 37 21 27852651 27852651 + Missense_Mutation SNP T T A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr21:27852651T>A ENST00000299340.4 - 3 617 c.274A>T c.(274-276)Agg>Tgg p.R92W CYYR1_ENST00000400043.3_Missense_Mutation_p.R92W|CYYR1_ENST00000435845.2_3'UTR|AP001597.1_ENST00000414486.1_RNA|AP001597.1_ENST00000357401.3_RNA NM_052954.2 NP_443186.1 Q96J86 CYYR1_HUMAN cysteine/tyrosine-rich 1 92 integral to membrane p.R92W(1) large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 CGGGTCGCCCTGTGGTTCTTC 0.507000 25 101 0 0 0.002780 0 0 PDGFD 80310 broad.mit.edu 37 11 103814199 103814199 + Silent SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:103814199G>A ENST00000302251.5 - 5 1186 c.735C>T c.(733-735)taC>taT p.Y245Y PDGFD_ENST00000393158.2_Silent_p.Y251Y NM_025208.4|NM_033135.3 NP_079484.1|NP_149126.1 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D 251 positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity p.Y251Y(2) biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) TCCGGTCATGGTATGACCTGC 0.418000 4 26 0 0 0.000602 0 0 GABRB2 2561 broad.mit.edu 37 5 160763740 160763740 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr5:160763740C>A ENST00000274547.2 - 7 795 c.578G>T c.(577-579)cGt>cTt p.R193L GABRB2_ENST00000517901.1_Missense_Mutation_p.R130L|GABRB2_ENST00000353437.6_Missense_Mutation_p.R193L|GABRB2_ENST00000393959.1_Missense_Mutation_p.R193L|GABRB2_ENST00000517547.1_Missense_Mutation_p.R33L|GABRB2_ENST00000520240.1_Missense_Mutation_p.R193L NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 193 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity p.R193L(2)|p.R193H(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ATCATCGCCACGCCAGTAAAA 0.353000 14 69 3.28513e-13 4.20766e-13 0.003954 1 0 MAST4 375449 broad.mit.edu 37 5 66406002 66406002 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr5:66406002G>T ENST00000404260.3 + 11 1750 c.1442G>T c.(1441-1443)cGc>cTc p.R481L MAST4_ENST00000403625.2_Missense_Mutation_p.R478L|MAST4_ENST00000261569.7_Missense_Mutation_p.R284L|MAST4_ENST00000403666.1_Missense_Mutation_p.R289L|MAST4_ENST00000490016.2_Missense_Mutation_p.R289L|MAST4_ENST00000405643.1_Missense_Mutation_p.R299L O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 481 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.R481L(1) breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GTTATTGCCCGCCCTGCTCGG 0.393000 42 64 3.70713e-34 5.48011e-34 0.014410 1 0 GRM1 2911 broad.mit.edu 37 6 146720582 146720582 + Missense_Mutation SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr6:146720582C>T ENST00000392299.2 + 8 2877 c.2407C>T c.(2407-2409)Ccc>Tcc p.P803S GRM1_ENST00000361719.2_Missense_Mutation_p.P803S|GRM1_ENST00000282753.1_Missense_Mutation_p.P803S|GRM1_ENST00000355289.4_Missense_Mutation_p.P803S|GRM1_ENST00000507907.1_Missense_Mutation_p.P803S|GRM1_ENST00000492807.2_Missense_Mutation_p.P803S Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 803 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.P803S(2) NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) AGCTTTTGTGCCCATTTACTT 0.488000 32 70 0 0 0.013726 0 0 GTF3C5 9328 broad.mit.edu 37 9 135932240 135932240 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr9:135932240G>T ENST00000372097.5 + 10 1661 c.1338G>T c.(1336-1338)gaG>gaT p.E446D GTF3C5_ENST00000372108.5_Missense_Mutation_p.E453D|GTF3C5_ENST00000342018.8_Missense_Mutation_p.E384D|GTF3C5_ENST00000372099.6_Missense_Mutation_p.E437D NM_012087.3 NP_036219.2 Q9Y5Q8 TF3C5_HUMAN general transcription factor IIIC, polypeptide 5, 63kDa 446 transcription factor TFIIIC complex DNA binding|protein binding p.E446D(1) endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05) CCAGCGACGAGCTCAGGGACA 0.607000 21 94 1.64293e-13 2.11154e-13 0.003330 1 0 ZNF263 10127 broad.mit.edu 37 16 3339736 3339736 + Silent SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr16:3339736C>T ENST00000219069.5 + 6 2106 c.1230C>T c.(1228-1230)gaC>gaT p.D410D ZNF263_ENST00000538765.1_Silent_p.D58D|ZNF263_ENST00000574253.1_3'UTR NM_005741.4 NP_005732.2 O14978 ZN263_HUMAN zinc finger protein 263 410 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D410D(1) NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3) 20 TGGGTGTGGACTGCACTGAAA 0.468000 41 118 0 0 0.007835 0 0 STXBP4 252983 broad.mit.edu 37 17 53237247 53237247 + Missense_Mutation SNP G G C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr17:53237247G>C ENST00000376352.2 + 18 1844 c.1637G>C c.(1636-1638)aGa>aCa p.R546T STXBP4_ENST00000434978.2_Missense_Mutation_p.R524T NM_178509.5 NP_848604.3 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 546 cytoplasm calcium ion binding p.R546T(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 GATTGCTCTAGAGAACTCCCC 0.443000 4 53 0 0 0.001168 0 0 ABCG5 64240 broad.mit.edu 37 2 44065024 44065024 + Missense_Mutation SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr2:44065024C>T ENST00000260645.1 - 2 353 c.214G>A c.(214-216)Gtc>Atc p.V72I ABCG5_ENST00000543989.1_5'UTR|ABCG5_ENST00000405322.1_5'UTR NM_022436.2 NP_071881.1 Q9H222 ABCG5_HUMAN ATP-binding cassette, sub-family G (WHITE), member 5 72 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity p.V72I(1) breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TACAAGGAGACATCTTTGAGG 0.527000 55 99 0 0 0.014410 0 0 AKAP9 10142 broad.mit.edu 37 7 91708472 91708472 + Missense_Mutation SNP A A G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr7:91708472A>G ENST00000359028.2 + 32 7286 c.7061A>G c.(7060-7062)aAg>aGg p.K2354R AKAP9_ENST00000356239.3_Missense_Mutation_p.K2342R|AKAP9_ENST00000358100.2_Missense_Mutation_p.K2354R Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 2354 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding p.K2342R(1)|p.K2354R(1) NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GAATGTGTGAAGAGAAATAGA 0.318000 T BRAF papillary thyroid 131 46 0 0 0.014410 0 0 PLXDC2 84898 broad.mit.edu 37 10 20290768 20290768 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr10:20290768C>A ENST00000377252.3 + 2 1018 c.177C>A c.(175-177)caC>caA p.H59Q PLXDC2_ENST00000377242.3_Missense_Mutation_p.H59Q NM_032812.7 NP_116201.7 Q6UX71 PXDC2_HUMAN plexin domain containing 2 59 integral to membrane p.H59H(1)|p.H59Q(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 TTGATTCACACGCGTACAGCC 0.498000 7 55 0.000157383 0.000169142 0.003080 1 0 PRPF3 9129 broad.mit.edu 37 1 150321643 150321643 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:150321643G>T ENST00000324862.6 + 15 2019 c.1854G>T c.(1852-1854)gaG>gaT p.E618D PRPF3_ENST00000414970.2_Missense_Mutation_p.E569D|PRPF3_ENST00000467329.1_3'UTR NM_004698.2 NP_004689.1 O43395 PRPF3_HUMAN pre-mRNA processing factor 3 618 nuclear mRNA splicing, via spliceosome Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding p.E618D(1) breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) Colorectal(1306;0.0149) ATGATGAGGAGTCTGATGAGG 0.358000 46 210 7.36392e-32 1.07164e-31 0.014410 1 0 OR6K6 128371 broad.mit.edu 37 1 158725087 158725087 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:158725087C>A ENST00000368144.2 + 1 578 c.482C>A c.(481-483)cCa>cAa p.P161Q NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P161Q(1) endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) CTCCGTTACCCAACCATCATG 0.463000 28 108 1.39806e-14 1.82823e-14 0.008361 1 0 CD177 57126 broad.mit.edu 37 19 43866423 43866423 + RNA SNP T T C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr19:43866423T>C ENST00000378009.4 + 0 1426 CD177_ENST00000607517.1_RNA|CTC-490G23.4_ENST00000607109.1_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) GGGGTGGGGCTGGCACTGGCC 0.617000 3 30 0 0 0.013537 0 0 OTOGL 283310 broad.mit.edu 37 12 80752460 80752460 + Missense_Mutation SNP C C G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr12:80752460C>G ENST00000458043.2 + 50 6110 c.6104C>G c.(6103-6105)cCa>cGa p.P2035R OTOGL_ENST00000547103.1_Missense_Mutation_p.P2023R|OTOGL_ENST00000546620.1_Missense_Mutation_p.P54R NM_173591.3 NP_775862.3 otogelin-like p.P2035R(1)|p.P400R(1)|p.P478A(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 GTATGTGAACCAAACCTTTGT 0.353000 4 11 0 0 0.001168 0 0 TAF4B 6875 broad.mit.edu 37 18 23873416 23873416 + Missense_Mutation SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr18:23873416C>T ENST00000269142.5 + 9 2751 c.1753C>T c.(1753-1755)Cct>Tct p.P585S TAF4B_ENST00000400466.2_Missense_Mutation_p.P585S|TAF4B_ENST00000578121.1_Missense_Mutation_p.P590S NM_005640.1 NP_005631.1 Q92750 TAF4B_HUMAN TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa 585 transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleolus|transcription factor TFIID complex DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity p.P585S(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1) 29 all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124) Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267) AATTACTCTGCCTGGAAATAA 0.303000 5 14 0 0 0.001168 0 0 PLAT 5327 broad.mit.edu 37 8 42036484 42036484 + Silent SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr8:42036484G>T ENST00000220809.4 - 13 1717 c.1461C>A c.(1459-1461)acC>acA p.T487T PLAT_ENST00000429089.2_Silent_p.T487T|PLAT_ENST00000352041.3_Silent_p.T441T|PLAT_ENST00000524009.1_Silent_p.T398T|PLAT_ENST00000519510.1_Silent_p.T424T|PLAT_ENST00000429710.2_Silent_p.T361T|PLAT_ENST00000270189.6_3'UTR NM_000930.3 NP_000921.1 P00750 TPA_HUMAN plasminogen activator, tissue 487 Peptidase S1. blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity p.T487T(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GCATGTTGTCGGTGACTGTTC 0.582000 25 156 7.26314e-15 9.53128e-15 0.007291 1 0 GBA3 57733 broad.mit.edu 37 4 22729380 22729380 + RNA SNP T T A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr4:22729380T>A ENST00000511446.1 + 0 61 GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA NM_001277225.1 NP_001264154.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TCGTAATCTGTCATAATCCTC 0.393000 12 174 0 0 0.010729 0 0 KRTAP13-2 337959 broad.mit.edu 37 21 31744152 31744152 + Missense_Mutation SNP A A T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr21:31744152A>T ENST00000399889.2 - 1 405 c.380T>A c.(379-381)gTc>gAc p.V127D NM_181621.3 NP_853652.1 Q52LG2 KR132_HUMAN keratin associated protein 13-2 127 intermediate filament p.V127D(1) endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 21 CAGGGATCTGACACCACTGGA 0.582000 6 51 0 0 0.003080 0 0 MTUS2 23281 broad.mit.edu 37 13 29598882 29598882 + Missense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr13:29598882G>A ENST00000431530.3 + 1 135 c.77G>A c.(76-78)cGg>cAg p.R26Q NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 16 cytoplasm|microtubule microtubule binding|protein homodimerization activity p.R26Q(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 ACTCAGTTGCGGGACAACAGA 0.458000 24 55 0 0 0.004656 0 0 MYH4 4622 broad.mit.edu 37 17 10358324 10358324 + Missense_Mutation SNP G G A rs143572602 byFrequency TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr17:10358324G>A ENST00000255381.2 - 21 2479 c.2369C>T c.(2368-2370)aCg>aTg p.T790M CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 790 IQ. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.T790M(2) 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 TTGAGTGCGCGTGATGAGTTG 0.458000 25 31 0 0 0.004656 0 0 IGHV2-26 28455 broad.mit.edu 37 14 106757685 106757685 + RNA SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr14:106757685G>T ENST00000390611.2 - 0 345 GTGTCCACAGGGTCCATGTTG 0.522000 59 179 9.59835e-30 1.39139e-29 0.014410 1 0 RP11-159L20.2 0 broad.mit.edu 37 14 31290699 31290699 + RNA SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr14:31290699G>A ENST00000554665.1 - 0 208 TGCTACTCCAGACACAAAGCT 0.507000 6 34 0 0 0.003080 0 0 COL11A1 1301 broad.mit.edu 37 1 103481273 103481273 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:103481273G>T ENST00000358392.2 - 12 1792 c.1475C>A c.(1474-1476)cCa>cAa p.P492Q COL11A1_ENST00000370096.3_Missense_Mutation_p.P480Q|COL11A1_ENST00000512756.1_Missense_Mutation_p.P364Q|COL11A1_ENST00000353414.4_Missense_Mutation_p.P441Q NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 480 Triple-helical region (interrupted). collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.P480Q(1)|p.P492Q(1) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ATCAGCCCCTGGTAAGCCAGG 0.348000 5 6 2.0095e-06 2.27055e-06 0.001984 1 0 MYOCD 93649 broad.mit.edu 37 17 12639576 12639576 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr17:12639576C>A ENST00000425538.1 + 6 714 c.514C>A c.(514-516)Ccc>Acc p.P172T MYOCD_ENST00000395988.1_Missense_Mutation_p.P76T|MYOCD_ENST00000343344.4_Missense_Mutation_p.P172T NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 172 HDAC5-binding (By similarity). cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding p.P172T(2) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AAGTGAAGACCCCCAAAACTC 0.512000 56 121 5.12918e-33 7.49341e-33 0.014410 1 0 TCL6 27004 broad.mit.edu 37 14 96137713 96137713 + RNA SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr14:96137713C>T ENST00000467865.1 + 0 2070 RP11-1070N10.6_ENST00000461160.1_RNA p.P89L(1) large_intestine(1)|lung(7) 8 all_cancers(154;0.103) Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207) tctcattcgcctctggatctg 0.478000 T TRA@ T-ALL 6 46 0 0 0.001984 0 0 NPY5R 4889 broad.mit.edu 37 4 164271983 164271983 + Silent SNP A A T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr4:164271983A>T ENST00000515560.1 + 4 2080 c.558A>T c.(556-558)acA>acT p.T186T NPY5R_ENST00000338566.3_Silent_p.T186T|NPY5R_ENST00000506953.1_Silent_p.T186T Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 186 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane p.T186T(2) NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) TTCAAGAAACATTTGGTTCAG 0.418000 87 243 0 0 0.014410 0 0 DNAH11 8701 broad.mit.edu 37 7 21775402 21775402 + Nonsense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr7:21775402G>T ENST00000328843.6 + 47 7637 c.7606G>T c.(7606-7608)Gag>Tag p.E2536* DNAH11_ENST00000409508.3_Nonsense_Mutation_p.E2529* Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2536 AAA 3 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E2536*(1) NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AAGTCTCTCTGAGGATTACAT 0.423000 Kartagener syndrome 18 90 8.10497e-08 9.44318e-08 0.010504 1 0 CNTNAP4 85445 broad.mit.edu 37 16 76528859 76528859 + Nonsense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr16:76528859C>A ENST00000307431.8 + 15 2515 c.2130C>A c.(2128-2130)taC>taA p.Y710* CNTNAP4_ENST00000476707.1_Nonsense_Mutation_p.Y714*|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.Y662*|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.Y638* NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 711 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding p.Y638*(1)|p.Y710*(1)|p.Y686*(1) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 CGCAAACCTACTGGGGAGGTT 0.428000 26 45 5.60225e-13 7.15099e-13 0.009535 1 0 GRIA4 2893 broad.mit.edu 37 11 105732855 105732855 + Missense_Mutation SNP T T C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:105732855T>C ENST00000393127.2 + 5 1039 c.593T>C c.(592-594)cTa>cCa p.L198P GRIA4_ENST00000282499.5_Missense_Mutation_p.L198P|GRIA4_ENST00000525187.1_Missense_Mutation_p.L198P|GRIA4_ENST00000530497.1_Missense_Mutation_p.L198P|GRIA4_ENST00000428631.2_Missense_Mutation_p.L198P|GRIA4_ENST00000393125.2_Missense_Mutation_p.L198P NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 198 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity p.L198P(3) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) AGGCAACTTCTAGAAGAACTT 0.353000 24 60 0 0 0.003330 0 0 DCHS2 54798 broad.mit.edu 37 4 155180838 155180838 + Missense_Mutation SNP T T A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr4:155180838T>A ENST00000357232.3 - 20 5282 c.5283A>T c.(5281-5283)ttA>ttT p.L1761F NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1761 Cadherin 15. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L1761F(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TACTTTCAGCTAAAACGATGA 0.368000 36 121 0 0 0.003271 0 0 AGAP11 119385 broad.mit.edu 37 10 88769446 88769446 + RNA SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr10:88769446G>A ENST00000444431.1 + 0 4046 RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding GTGAGGAGGTGAACGAGACCT 0.677000 47 90 0 0 0.014410 0 0 GSC2 2928 broad.mit.edu 37 22 19136549 19136549 + Silent SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr22:19136549C>T ENST00000086933.2 - 3 572 c.573G>A c.(571-573)gcG>gcA p.A191A NM_005315.1 NP_005306.1 O15499 GSC2_HUMAN goosecoid homeobox 2 191 anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A191A(1) central_nervous_system(1)|large_intestine(1)|lung(2) 4 Colorectal(54;0.0993) GCAGGAGCCTCGCGGAAGCCG 0.647000 4 8 0 0 0.001168 0 0 AQR 9716 broad.mit.edu 37 15 35240533 35240533 + Missense_Mutation SNP T T C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr15:35240533T>C ENST00000156471.5 - 5 487 c.262A>G c.(262-264)Aag>Gag p.K88E NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 88 catalytic step 2 spliceosome RNA binding p.K88E(1) breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) AAATAGGCCTTGCTAGATACC 0.363000 57 98 0 0 0.014410 0 0 TMEM214 54867 broad.mit.edu 37 2 27259358 27259358 + Missense_Mutation SNP C C G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr2:27259358C>G ENST00000238788.9 + 6 786 c.724C>G c.(724-726)Ctg>Gtg p.L242V TMEM214_ENST00000404032.3_Missense_Mutation_p.L197V NM_017727.4 NP_060197.4 Q6NUQ4 TM214_HUMAN transmembrane protein 214 242 integral to membrane protein binding p.L242V(1) kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 TCCTCAGTTCCTGGAACTGCT 0.582000 71 139 0 0 0.014410 0 0 FAM180A 389558 broad.mit.edu 37 7 135418863 135418863 + Silent SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr7:135418863G>A ENST00000338588.3 - 3 647 c.382C>T c.(382-384)Ctg>Ttg p.L128L FAM180A_ENST00000415751.1_Silent_p.L128L NM_205855.3 NP_995327.1 Q6UWF9 F180A_HUMAN family with sequence similarity 180, member A 128 extracellular region p.L128L(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1) 14 GCCAGGGTCAGCACTGTCCTT 0.612000 19 93 0 0 0.006122 0 0 NOTCH4 4855 broad.mit.edu 37 6 32188210 32188210 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr6:32188210G>T ENST00000375023.3 - 6 1269 c.1131C>A c.(1129-1131)ttC>ttA p.F377L NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 377 EGF-like 9; calcium-binding (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity p.F377L(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 AGAGGCAGGAGAAAGAGCCCA 0.607000 87 141 9.24773e-40 1.38346e-39 0.014410 1 0 RNPEP 6051 broad.mit.edu 37 1 201969089 201969089 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:201969089G>T ENST00000295640.4 + 6 1193 c.1150G>T c.(1150-1152)Gac>Tac p.D384Y RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Missense_Mutation_p.D345Y NM_020216.3 NP_064601.3 Q9H4A4 AMPB_HUMAN arginyl aminopeptidase (aminopeptidase B) 384 leukotriene biosynthetic process epoxide hydrolase activity|zinc ion binding p.D384Y(1) breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005) TCAGCACATGGACATCACTGG 0.577000 OREG0014093 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 49 1.61879e-10 1.99154e-10 0.013537 1 0 KDM5D 8284 broad.mit.edu 37 Y 21869168 21869168 + Silent SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chrY:21869168C>T ENST00000541639.1 - 25 4244 c.3957G>A c.(3955-3957)gtG>gtA p.V1319V KDM5D_ENST00000382806.2_Silent_p.V1231V|KDM5D_ENST00000317961.4_Silent_p.V1288V NM_001146705.1 NP_001140177.1 Q9BY66 KDM5D_HUMAN lysine (K)-specific demethylase 5D 1288 chromatin modification|spermatogenesis nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding p.V1288V(1) kidney(1)|large_intestine(9)|lung(6)|skin(1) 17 Vitamin C(DB00126) ACAGAGCAGTCACATCTTCAG 0.607000 3 8 0 0 0.009096 0 0 COX18 285521 broad.mit.edu 37 4 73931122 73931122 + Missense_Mutation SNP T T A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr4:73931122T>A ENST00000295890.4 - 3 534 c.443A>T c.(442-444)tAt>tTt p.Y148F COX18_ENST00000507544.2_Missense_Mutation_p.Y148F NM_173827.2 NP_776188.1 Q8N8Q8 COX18_HUMAN COX18 cytochrome C oxidase assembly factor 148 protein insertion into mitochondrial membrane|respiratory chain complex IV assembly integral to mitochondrial inner membrane protein transporter activity p.Y148F(1) large_intestine(4)|lung(2) 6 Breast(15;0.00096) Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ATTCTTTAGATAAGTGAGCCT 0.423000 29 99 0 0 0.009535 0 0 RP11-50E11.3 0 broad.mit.edu 37 10 52390540 52390540 + RNA SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr10:52390540C>A ENST00000443374.1 + 0 1233 CTGAAACACTCCTGATCGTAA 0.443000 17 29 1.37285e-15 1.8143e-15 0.004007 1 0 ACTN1 87 broad.mit.edu 37 14 69347641 69347641 + Silent SNP C C T rs139138798 byFrequency TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr14:69347641C>T ENST00000193403.6 - 17 2402 c.2019G>A c.(2017-2019)caG>caA p.Q673Q ACTN1_ENST00000538545.2_Silent_p.Q673Q|ACTN1_ENST00000394419.4_Silent_p.Q673Q|ACTN1_ENST00000438964.2_Silent_p.Q673Q|ACTN1_ENST00000376839.3_Silent_p.Q608Q NM_001102.3 NP_001093.1 P12814 ACTN1_HUMAN actinin, alpha 1 673 Interaction with DDN. focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding p.Q673Q(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) TCTTCTCATACTGCCGCAGGT 0.567000 15 117 0 0 0.006122 0 0 INSL6 11172 broad.mit.edu 37 9 5185499 5185499 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr9:5185499C>A ENST00000381641.3 - 1 169 c.104G>T c.(103-105)aGg>aTg p.R35M NM_007179.2 NP_009110.2 Q9Y581 INSL6_HUMAN insulin-like 6 35 extracellular region hormone activity p.R35M(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2) 15 all_hematologic(13;0.137) Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145) CACCAAGTACCTGCCGCACAG 0.567000 28 57 4.22769e-11 5.23562e-11 0.006320 1 0 PROS1 5627 broad.mit.edu 37 3 93593251 93593251 + Splice_Site SNP T T A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr3:93593251T>A ENST00000394236.3 - 15 2187 c.e15-2 PROS1_ENST00000407433.1_Splice_Site NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity p.?(1) endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) ATGGAACATCTGTAAAAGGAA 0.363000 12 27 0 0 0.003163 0 0 HNRNPA2B1 3181 broad.mit.edu 37 7 26235526 26235526 + Missense_Mutation SNP C C G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr7:26235526C>G ENST00000354667.4 - 8 866 c.698G>C c.(697-699)gGa>gCa p.G233A HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.G221A NM_031243.2 NP_112533.1 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 233 Gly-rich. RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding p.G233A(1)|p.G221A(1) HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 ACTGCCATATCCATCTGTTAG 0.388000 T ETV1 prostate 6 44 0 0 0.006214 0 0 ASTN1 460 broad.mit.edu 37 1 176837984 176837984 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:176837984G>T ENST00000367654.2 - 22 3680 c.3667C>A c.(3667-3669)Ccc>Acc p.P1223T ASTN1_ENST00000424564.2_Missense_Mutation_p.P1215T|ASTN1_ENST00000361833.2_Missense_Mutation_p.P1215T|ASTN1_ENST00000367657.3_Missense_Mutation_p.P1215T O14525 ASTN1_HUMAN astrotactin 1 1223 cell migration|neuron cell-cell adhesion integral to membrane p.P1215T(1) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GATTACCTGGGACCTAACTCA 0.443000 20 98 1.96292e-10 2.39131e-10 0.010504 1 0 C5orf42 65250 broad.mit.edu 37 5 37183222 37183222 + Missense_Mutation SNP T T A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr5:37183222T>A ENST00000274258.7 - 26 5291 c.1704A>T c.(1702-1704)aaA>aaT p.K568N C5orf42_ENST00000425232.2_Missense_Mutation_p.K1687N|C5orf42_ENST00000508244.1_Missense_Mutation_p.K1687N E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 1687 p.K1687N(1)|p.K568N(1) breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) CATCTTGTATTTTGTAAATTG 0.318000 6 77 0 0 0.001168 0 0 APPL2 55198 broad.mit.edu 37 12 105589110 105589110 + Missense_Mutation SNP C C G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr12:105589110C>G ENST00000258530.3 - 14 1395 c.1170G>C c.(1168-1170)ttG>ttC p.L390F APPL2_ENST00000551662.1_Missense_Mutation_p.L396F|APPL2_ENST00000539978.2_Missense_Mutation_p.L347F NM_001251904.1|NM_018171.3 NP_001238833.1|NP_060641.2 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 390 Required for RAB5A binding (By similarity). cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding p.L390F(1) breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 CGGTCTGATTCAACTTGATCG 0.473000 24 36 0 0 0.006320 0 0 CCDC61 729440 broad.mit.edu 37 19 46506741 46506741 + Silent SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr19:46506741G>T ENST00000263284.2 + 4 384 c.384G>T c.(382-384)ctG>ctT p.L128L CCDC61_ENST00000536603.1_Silent_p.L71L|CCDC61_ENST00000595358.1_Silent_p.L71L|CCDC61_ENST00000594087.1_Silent_p.L71L coiled-coil domain containing 61 p.L128L(1) endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164) GTCATATGCTGGAGTCAGCCC 0.542000 4 13 0.000157383 0.000169142 0.003080 1 0 IRS4 8471 broad.mit.edu 37 X 107977956 107977956 + Nonsense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chrX:107977956G>T ENST00000372129.2 - 1 1695 c.1619C>A c.(1618-1620)tCa>tAa p.S540* NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 540 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity p.S540*(1) NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 GTTTCCTCCTGAGCCCTGGCC 0.627000 79 98 1.68737e-39 2.51424e-39 0.014410 1 0 KRT14 3861 broad.mit.edu 37 17 39742587 39742587 + Missense_Mutation SNP T T C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr17:39742587T>C ENST00000167586.6 - 1 586 c.500A>G c.(499-501)aAg>aGg p.K167R NM_000526.4 NP_000517.2 P02533 K1C14_HUMAN keratin 14 167 Linker 1.|Rod. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton p.K167R(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) CTCAATGGTCTTGAAGTAGGG 0.572000 75 203 0 0 0.014410 0 0 NALCN 259232 broad.mit.edu 37 13 101936320 101936320 + Silent SNP G G C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr13:101936320G>C ENST00000251127.6 - 10 1179 c.1098C>G c.(1096-1098)gtC>gtG p.V366V NALCN_ENST00000376196.3_Silent_p.V366V|NALCN_ENST00000470333.1_5'UTR NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 366 integral to membrane sodium channel activity|voltage-gated ion channel activity p.V366V(1) NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GGGGCTTGTTGACATCCACAG 0.458000 9 31 0 0 0.010729 0 0 MOCS3 27304 broad.mit.edu 37 20 49575710 49575710 + Missense_Mutation SNP C C G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr20:49575710C>G ENST00000244051.1 + 1 348 c.331C>G c.(331-333)Ctt>Gtt p.L111V NM_014484.3 NP_055299.1 O95396 MOCS3_HUMAN molybdenum cofactor synthesis 3 111 enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity p.L111V(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 24 CCGCCTTGGCCTTGTGGACTA 0.687000 27 134 0 0 0.010818 0 0 SATB2 23314 broad.mit.edu 37 2 200173488 200173488 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr2:200173488C>A ENST00000443023.1 - 9 3023 c.1558G>T c.(1558-1560)Gtg>Ttg p.V520L SATB2_ENST00000457245.1_Missense_Mutation_p.V579L|SATB2_ENST00000417098.1_Missense_Mutation_p.V579L|SATB2_ENST00000428695.1_Missense_Mutation_p.V461L|SATB2_ENST00000260926.5_Missense_Mutation_p.V579L Q9UPW6 SATB2_HUMAN SATB homeobox 2 579 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity p.V579L(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CTGACCTGCACCGGCTCAGGG 0.602000 21 55 1.50039e-11 1.88304e-11 0.012319 1 0 PYGM 5837 broad.mit.edu 37 11 64519396 64519396 + Splice_Site SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:64519396G>T ENST00000164139.3 - 14 2166 c.1768_splice c.e14+1 p.R590_splice PYGM_ENST00000462303.1_5'UTR|PYGM_ENST00000377432.3_Splice_Site_p.R502_splice NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 590 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding p.R590S(1) cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) TGCCACTCACGGTTGTACAGG 0.527000 7 29 3.09899e-07 3.55528e-07 0.004482 1 0 CACNA1C 775 broad.mit.edu 37 12 2788840 2788840 + Silent SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr12:2788840C>A ENST00000399655.1 + 42 5587 c.5322C>A c.(5320-5322)gcC>gcA p.A1774A CACNA1C_ENST00000347598.4_Silent_p.A1822A|CACNA1C_ENST00000399595.1_Silent_p.A1782A|CACNA1C_ENST00000406454.3_Silent_p.A1774A|CACNA1C_ENST00000402845.3_Silent_p.A1793A|CACNA1C_ENST00000344100.3_Silent_p.A1815A|CACNA1C_ENST00000399601.1_Silent_p.A1774A|CACNA1C_ENST00000335762.5_Silent_p.A1799A|CACNA1C_ENST00000399591.1_Silent_p.A1782A|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399603.1_Silent_p.A1774A|CACNA1C_ENST00000399606.1_Silent_p.A1794A|CACNA1C_ENST00000399637.1_Silent_p.A1793A|CACNA1C_ENST00000399597.1_Silent_p.A1774A|CACNA1C_ENST00000399641.1_Silent_p.A1774A|CACNA1C_ENST00000399634.1_Silent_p.A1774A|CACNA1C_ENST00000399638.1_Silent_p.A1802A|CACNA1C_ENST00000399649.1_Silent_p.A1780A|CACNA1C_ENST00000399617.1_Silent_p.A1774A|CACNA1C_ENST00000399621.1_Silent_p.A1793A|CACNA1C_ENST00000399644.1_Silent_p.A1774A|CACNA1C_ENST00000399629.1_Silent_p.A1791A|CACNA1C_ENST00000327702.7_Silent_p.A1774A NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1822 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity p.A1309A(1)|p.A1815A(1)|p.A1822A(1)|p.A1852A(1)|p.A1774A(1) NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) ACAACACCGCCCTGGGTCGCC 0.682000 8 13 0.000442599 0.00046893 0.006214 1 0 SCN2A 6326 broad.mit.edu 37 2 166245810 166245810 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr2:166245810G>T ENST00000375437.2 + 27 5784 c.5494G>T c.(5494-5496)Gca>Tca p.A1832S SCN2A_ENST00000283256.6_Missense_Mutation_p.A1832S|SCN2A_ENST00000375427.2_Missense_Mutation_p.A1832S|SCN2A_ENST00000357398.3_Missense_Mutation_p.A1832S NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1832 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity p.A1832S(2) NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TCTTCTCATAGCAAAACCCAA 0.463000 55 89 1.20869e-33 1.77973e-33 0.014410 1 0 NDN 4692 broad.mit.edu 37 15 23931842 23931842 + Missense_Mutation SNP C C G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr15:23931842C>G ENST00000331837.4 - 1 608 c.523G>C c.(523-525)Gag>Cag p.E175Q NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 175 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding p.E175Q(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CTGTCCAGCTCCTCGGGCTCC 0.652000 Prader-Willi syndrome 13 18 0 0 0.003163 0 0 C5orf42 65250 broad.mit.edu 37 5 37107805 37107805 + Missense_Mutation SNP T T G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr5:37107805T>G ENST00000274258.7 - 52 9774 c.6187A>C c.(6187-6189)Act>Cct p.T2063P C5orf42_ENST00000425232.2_Missense_Mutation_p.T3165P|C5orf42_ENST00000508244.1_Missense_Mutation_p.T3165P E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 3165 p.T2063P(1)|p.T3165P(1) breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) ATGCTGCCAGTGCTCTCAGAC 0.552000 19 21 0 0 0.010504 0 0 CYLC2 1539 broad.mit.edu 37 9 105767708 105767708 + Missense_Mutation SNP G G C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr9:105767708G>C ENST00000374798.3 + 5 865 c.795G>C c.(793-795)aaG>aaC p.K265N CYLC2_ENST00000487798.1_Missense_Mutation_p.K265N NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 265 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton p.K265N(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) AAGATGCAAAGGAGATTAAAA 0.383000 6 39 0 0 0.001984 0 0 ERBB2 2064 broad.mit.edu 37 17 37868201 37868201 + Missense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr17:37868201G>A ENST00000406381.2 + 10 1342 c.832G>A c.(832-834)Gtg>Atg p.V278M ERBB2_ENST00000540042.1_Missense_Mutation_p.V278M|ERBB2_ENST00000578199.1_Missense_Mutation_p.V278M|ERBB2_ENST00000269571.5_Missense_Mutation_p.V308M|ERBB2_ENST00000540147.1_Missense_Mutation_p.V278M|ERBB2_ENST00000541774.1_Missense_Mutation_p.V293M|ERBB2_ENST00000584450.1_Missense_Mutation_p.V308M|ERBB2_ENST00000445658.2_Missense_Mutation_p.V32M|ERBB2_ENST00000584601.1_Missense_Mutation_p.V278M NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 308 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V308M(1) NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) TTCTACGGACGTGGGATCCTG 0.582000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 37 573 0 0 0.006999 0 0 MYH6 4624 broad.mit.edu 37 14 23858607 23858607 + Missense_Mutation SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr14:23858607C>T ENST00000405093.3 - 28 4043 c.3973G>A c.(3973-3975)Ggc>Agc p.G1325S MYH6_ENST00000356287.3_Missense_Mutation_p.G1325S NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1325 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 p.G1325S(1) 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) CTCACCTTGCCCTCCTCCTCC 0.592000 33 133 0 0 0.006999 0 0 LAMC1 3915 broad.mit.edu 37 1 183099666 183099666 + Missense_Mutation SNP A A C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:183099666A>C ENST00000258341.4 + 19 3725 c.3468A>C c.(3466-3468)aaA>aaC p.K1156N NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 1156 Domain II and I. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent p.K1156N(1) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGAAAGCAAAAGTCGCTGCTG 0.517000 11 48 0 0 0.013537 0 0 ZNF624 57547 broad.mit.edu 37 17 16527049 16527049 + Missense_Mutation SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr17:16527049C>T ENST00000311331.7 - 6 1242 c.1151G>A c.(1150-1152)gGa>gAa p.G384E NM_020787.3 NP_065838.2 Q9P2J8 ZN624_HUMAN zinc finger protein 624 384 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G384E(1) breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 26 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) GGGTTTCTCTCCAGTTTGAAT 0.393000 37 79 0 0 0.005524 0 0 ACSS3 79611 broad.mit.edu 37 12 81545819 81545819 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr12:81545819C>A ENST00000548058.1 + 7 1952 c.1042C>A c.(1042-1044)Cat>Aat p.H348N ACSS3_ENST00000548324.1_Missense_Mutation_p.H30N|ACSS3_ENST00000261206.3_Missense_Mutation_p.H347N Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 348 mitochondrion acetate-CoA ligase activity|ATP binding p.H348N(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 GGTTGTTGGACATTCCTATAT 0.303000 28 40 6.29468e-14 8.17435e-14 0.004878 1 0 CACNA1C 775 broad.mit.edu 37 12 2666138 2666138 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr12:2666138G>T ENST00000399655.1 + 11 1768 c.1503G>T c.(1501-1503)aaG>aaT p.K501N CACNA1C_ENST00000347598.4_Missense_Mutation_p.K501N|CACNA1C_ENST00000480911.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399595.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.K501N|CACNA1C_ENST00000402845.3_Missense_Mutation_p.K501N|CACNA1C_ENST00000344100.3_Missense_Mutation_p.K501N|CACNA1C_ENST00000399601.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000335762.5_Missense_Mutation_p.K526N|CACNA1C_ENST00000399591.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399603.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399606.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399637.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399597.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399641.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399638.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399649.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399617.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399621.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399644.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399629.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000327702.7_Missense_Mutation_p.K501N NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 501 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity p.K501N(3)|p.K36N(1)|p.K531N(1) NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CCAAGTCAAAGTTCAGGTGAG 0.493000 35 69 6.57855e-14 8.51341e-14 0.009718 1 0 NFATC4 4776 broad.mit.edu 37 14 24839463 24839463 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr14:24839463C>A ENST00000413692.2 + 3 1192 c.1048C>A c.(1048-1050)Cgt>Agt p.R350S NFATC4_ENST00000554344.1_Missense_Mutation_p.R217S|NFATC4_ENST00000555590.1_Missense_Mutation_p.R300S|NFATC4_ENST00000554591.1_Missense_Mutation_p.R350S|NFATC4_ENST00000554966.1_Missense_Mutation_p.R300S|NFATC4_ENST00000556169.1_Missense_Mutation_p.R275S|NFATC4_ENST00000553879.1_Missense_Mutation_p.R217S|NFATC4_ENST00000250373.4_Missense_Mutation_p.R287S|NFATC4_ENST00000554050.1_Missense_Mutation_p.R287S|NFATC4_ENST00000539237.2_Missense_Mutation_p.R319S|NFATC4_ENST00000553469.1_Missense_Mutation_p.R319S|NFATC4_ENST00000554661.1_Missense_Mutation_p.R217S|NFATC4_ENST00000555453.1_Missense_Mutation_p.R275S|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000557451.1_Missense_Mutation_p.R217S|NFATC4_ENST00000424781.2_Missense_Mutation_p.R300S|NFATC4_ENST00000556279.1_Missense_Mutation_p.R319S|NFATC4_ENST00000553708.1_Missense_Mutation_p.R287S|NFATC4_ENST00000422617.3_Missense_Mutation_p.R275S NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 287 cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.R350S(1)|p.R287S(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) TCTGTCCCGCCGTGGCAGCCT 0.701000 10 22 0.000219431 0.000234478 0.002450 1 0 NDNF 79625 broad.mit.edu 37 4 121961148 121961148 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr4:121961148C>A ENST00000379692.4 - 3 776 c.250G>T c.(250-252)Gcg>Tcg p.A84S NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 84 p.A84S(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 TCCAAAGGCGCATCACAGGGC 0.517000 28 89 7.01153e-11 8.6545e-11 0.007291 1 0 CYB5R4 51167 broad.mit.edu 37 6 84650320 84650320 + Splice_Site SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr6:84650320G>T ENST00000369681.4 + 14 1486 c.1346_splice c.e14+1 p.R449_splice CYB5R4_ENST00000479164.1_3'UTR NM_016230.3 NP_057314.2 Q7L1T6 NB5R4_HUMAN cytochrome b5 reductase 4 449 cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity p.R449I(1) breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) AAAGATAAAAGGTATTAAACT 0.333000 11 11 0.000978159 0.00102762 0.010729 1 0 VNN3 55350 broad.mit.edu 37 6 133044935 133044935 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr6:133044935G>T ENST00000207771.3 - 7 1384 c.1312C>A c.(1312-1314)Cgt>Agt p.R438S VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000509351.1_3'UTR vanin 3 p.R438S(1) cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 8 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168) AAAACATAACGCGTTCCAAAT 0.468000 13 20 2.61681e-11 3.2623e-11 0.002450 1 0 TOX 9760 broad.mit.edu 37 8 59851894 59851894 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr8:59851894C>A ENST00000361421.1 - 3 598 c.378G>T c.(376-378)caG>caT p.Q126H NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 126 nucleus DNA binding p.Q126H(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) GTGTTCCATCCTGGCCCAGCA 0.468000 19 102 4.96729e-08 5.82372e-08 0.008871 1 0 DMD 1756 broad.mit.edu 37 X 32827695 32827695 + Silent SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chrX:32827695G>A ENST00000357033.4 - 7 770 c.564C>T c.(562-564)tgC>tgT p.C188C DMD_ENST00000288447.4_Silent_p.C180C|DMD_ENST00000378677.2_Silent_p.C184C NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 188 Actin-binding.|CH 2. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.C188C(1)|p.C184C(1)|p.C183C(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTGACTGCTGGCAAACCACAC 0.398000 16 21 0 0 0.008871 0 0 TM6SF1 53346 broad.mit.edu 37 15 83791516 83791516 + Nonsense_Mutation SNP T T A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr15:83791516T>A ENST00000322019.9 + 6 763 c.489T>A c.(487-489)taT>taA p.Y163* TM6SF1_ENST00000565774.1_Nonsense_Mutation_p.Y163*|TM6SF1_ENST00000379390.6_Intron|TM6SF1_ENST00000379386.4_Nonsense_Mutation_p.Y166* Q9BZW5 TM6S1_HUMAN transmembrane 6 superfamily member 1 163 integral to membrane p.Y163*(1) endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 TAGGGAAGTATGGAACACGAA 0.353000 18 36 0 0 0.010504 0 0 DZIP3 9666 broad.mit.edu 37 3 108353817 108353817 + Nonsense_Mutation SNP C C T rs151046961 by1000genomes TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr3:108353817C>T ENST00000361582.3 + 10 1146 c.916C>T c.(916-918)Cag>Tag p.Q306* DZIP3_ENST00000463306.1_Nonsense_Mutation_p.Q306* NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 306 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding p.Q306*(1) breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 TGAAAATGATCAGGTATTATA 0.343000 7 15 0 0 0.001984 0 0 GMPPA 29926 broad.mit.edu 37 2 220371440 220371440 + Missense_Mutation SNP G G C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr2:220371440G>C ENST00000358215.3 + 13 1552 c.1183G>C c.(1183-1185)Gcc>Ccc p.A395P AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000341142.3_Missense_Mutation_p.A395P|GMPPA_ENST00000373908.1_Missense_Mutation_p.A395P|GMPPA_ENST00000373917.3_Missense_Mutation_p.A448P|GMPPA_ENST00000313597.5_Missense_Mutation_p.A395P NM_205847.2 NP_995319.1 Q96IJ6 GMPPA_HUMAN GDP-mannose pyrophosphorylase A 395 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity p.A395P(1) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 Renal(207;0.0183) Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148) CCGGATCCCTGCCGAGGTGCT 0.637000 16 29 0 0 0.006122 0 0 PKHD1 5314 broad.mit.edu 37 6 51921691 51921691 + Missense_Mutation SNP A A T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr6:51921691A>T ENST00000371117.3 - 17 1874 c.1599T>A c.(1597-1599)caT>caA p.H533Q PKHD1_ENST00000340994.4_Missense_Mutation_p.H533Q NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 533 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity p.H533Q(2) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CTCCCACCAGATGGGCTGTGG 0.448000 22 37 0 0 0.012319 0 0 OR2T3 343173 broad.mit.edu 37 1 248637546 248637546 + Missense_Mutation SNP A A C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:248637546A>C ENST00000359594.2 + 1 920 c.895A>C c.(895-897)Aac>Cac p.N299H NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N299H(1) breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CAGTCTCCGCAACAAAGATGT 0.488000 54 327 0 0 0.014410 0 0 ATP12A 479 broad.mit.edu 37 13 25265298 25265298 + Silent SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr13:25265298G>T ENST00000218548.6 + 8 1329 c.996G>T c.(994-996)gtG>gtT p.V332V ATP12A_ENST00000381946.3_Silent_p.V326V NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 326 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding p.V326V(1) breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) TCATCGCTGTGTCCCTGAAGT 0.517000 15 43 4.14922e-12 5.24259e-12 0.004007 1 0 KNTC1 9735 broad.mit.edu 37 12 123089424 123089424 + Splice_Site SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr12:123089424G>T ENST00000333479.7 + 50 5353 c.5175_splice c.e50-1 p.D1726_splice KNTC1_ENST00000537348.1_Splice_Site_p.D151_splice|KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000450485.2_Intron NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 1726 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding p.D1726Y(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TGTTTAAAAGGACGAAAAACG 0.448000 6 11 5.9392e-07 6.77214e-07 0.001168 1 0 KLHL4 56062 broad.mit.edu 37 X 86868947 86868947 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chrX:86868947C>A ENST00000373119.4 + 2 635 c.490C>A c.(490-492)Cac>Aac p.H164N KLHL4_ENST00000373114.4_Missense_Mutation_p.H164N NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 164 cytoplasm|microtubule cytoskeleton|nucleolus actin binding p.H164N(2) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 TGTTATAAACCACGCAGAGCA 0.423000 29 22 4.22769e-11 5.23562e-11 0.006320 1 0 PDPR 55066 broad.mit.edu 37 16 70172802 70172802 + Splice_Site SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr16:70172802G>T ENST00000288050.4 + 11 2148 c.1190_splice c.e11-1 p.K397_splice PDPR_ENST00000568530.1_Splice_Site_p.K397_splice|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000398122.3_Splice_Site_p.K297_splice NM_017990.3 NP_060460.4 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory subunit 397 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity p.K397N(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) GTCTATATAGGTACCTTGCCG 0.443000 10 90 1.5842e-08 1.86906e-08 0.001855 1 0 FLJ33360 401172 broad.mit.edu 37 5 6337389 6337389 + RNA SNP T T A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr5:6337389T>A ENST00000507444.1 - 0 16 NR_028351.1 AGAGAGCACCTCAGCAGGTGC 0.552000 29 40 0 0 0.006320 0 0 TBC1D31 93594 broad.mit.edu 37 8 124138862 124138862 + Missense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr8:124138862G>A ENST00000287380.1 + 13 1909 c.1819G>A c.(1819-1821)Gtt>Att p.V607I TBC1D31_ENST00000522420.1_Missense_Mutation_p.V502I|TBC1D31_ENST00000378080.2_Missense_Mutation_p.V502I|TBC1D31_ENST00000518805.1_Missense_Mutation_p.V240I|TBC1D31_ENST00000327098.5_Missense_Mutation_p.V607I|TBC1D31_ENST00000521676.1_Missense_Mutation_p.V484I|TBC1D31_ENST00000309336.3_Missense_Mutation_p.V607I NM_145647.3 NP_663622.2 TBC1 domain family, member 31 p.V607I(1) TCTGATGACTGTTGTAGCCTA 0.408000 18 114 0 0 0.007413 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43626819 43626819 + Missense_Mutation SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr9:43626819C>T ENST00000332857.6 - 4 1896 c.1868G>A c.(1867-1869)cGg>cAg p.R623Q NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 p.R623Q(1) TGATTCGTCCCGAAGCTGCAT 0.547000 10 65 0 0 0.008871 0 0 PTPDC1 138639 broad.mit.edu 37 9 96860849 96860849 + Silent SNP A A T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr9:96860849A>T ENST00000375360.3 + 7 2179 c.1839A>T c.(1837-1839)gtA>gtT p.V613V PTPDC1_ENST00000288976.3_Silent_p.V665V NM_001253830.1|NM_177995.2 NP_001240759.1|NP_818931.1 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 613 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.V613V(1)|p.V665V(1) endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 32 AAAGGAAGGTAGAAATGTGGC 0.343000 16 54 0 0 0.007413 0 0 FMN2 56776 broad.mit.edu 37 1 240255649 240255649 + Missense_Mutation SNP C C G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:240255649C>G ENST00000319653.9 + 1 470 c.240C>G c.(238-240)atC>atG p.I80M NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 80 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.I223M(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) ACCTGCGGATCAGGAAGAATC 0.667000 7 13 0 0 0.004482 0 0 IGF2BP1 10642 broad.mit.edu 37 17 47122386 47122386 + Missense_Mutation SNP C C G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr17:47122386C>G ENST00000290341.3 + 12 1688 c.1354C>G c.(1354-1356)Cgt>Ggt p.R452G IGF2BP1_ENST00000431824.2_Missense_Mutation_p.R313G NM_006546.3 NP_006537.3 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding protein 1 452 KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity). CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity p.R452G(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CTCCAAAGTTCGTATGGTTAT 0.468000 96 235 0 0 0.014410 0 0 OR2T8 343172 broad.mit.edu 37 1 248084397 248084397 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:248084397C>A ENST00000319968.4 + 1 78 c.78C>A c.(76-78)ttC>ttA p.F26L NM_001005522.1 NP_001005522.1 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, member 8 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F26L(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AAGTCCTCTTCATGATGGTTC 0.468000 48 136 4.64219e-42 7.00073e-42 0.014410 1 0 SENP7 57337 broad.mit.edu 37 3 101080669 101080669 + Nonsense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr3:101080669C>A ENST00000394095.2 - 11 1566 c.1513G>T c.(1513-1515)Gag>Tag p.E505* SENP7_ENST00000358203.3_Nonsense_Mutation_p.E341*|SENP7_ENST00000394091.1_Nonsense_Mutation_p.E341*|SENP7_ENST00000348610.3_Nonsense_Mutation_p.E472*|SENP7_ENST00000314261.7_Nonsense_Mutation_p.E439*|SENP7_ENST00000394094.2_Nonsense_Mutation_p.E440* NM_020654.3 NP_065705.3 Q9BQF6 SENP7_HUMAN SUMO1/sentrin specific peptidase 7 505 proteolysis nucleus cysteine-type peptidase activity p.E505*(1)|p.E439*(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GAAATGTTCTCCATGACAGGA 0.294000 11 41 1.49906e-05 1.65872e-05 0.002450 1 0 NMUR2 56923 broad.mit.edu 37 5 151784306 151784306 + Silent SNP C C G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr5:151784306C>G ENST00000255262.3 - 1 534 c.369G>C c.(367-369)acG>acC p.T123T NMUR2_ENST00000518933.1_Intron NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 123 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity p.T123T(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) CAAAGAGGGCCGTCTTGAAGT 0.607000 56 100 0 0 0.014410 0 0 OR8H2 390151 broad.mit.edu 37 11 55872729 55872729 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:55872729G>T ENST00000313503.1 + 1 211 c.211G>T c.(211-213)Gac>Tac p.D71Y NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D71Y(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) GTCATTTATTGACCTCAGTTA 0.423000 HNSCC(53;0.14) 101 373 1.75558e-51 2.65825e-51 0.014410 1 0 KLF17 128209 broad.mit.edu 37 1 44596259 44596259 + Missense_Mutation SNP T T A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:44596259T>A ENST00000372299.3 + 3 1059 c.1001T>A c.(1000-1002)aTg>aAg p.M334K KLF17_ENST00000476802.1_3'UTR NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 334 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.M334K(2) NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) AGACGACATATGCGGGTACAC 0.488000 58 98 0 0 0.014410 0 0 VEPH1 79674 broad.mit.edu 37 3 157131778 157131778 + Silent SNP T T A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr3:157131778T>A ENST00000362010.2 - 6 1105 c.798A>T c.(796-798)ccA>ccT p.P266P VEPH1_ENST00000392832.2_Silent_p.P266P|VEPH1_ENST00000392833.2_Silent_p.P266P|VEPH1_ENST00000543418.1_Silent_p.P266P|VEPH1_ENST00000469007.1_5'UTR NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 266 plasma membrane p.P266P(1) autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) TCAAAGCCACTGGCTCATAGA 0.428000 25 47 0 0 0.004656 0 0 PHF3 23469 broad.mit.edu 37 6 64421087 64421087 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr6:64421087C>A ENST00000262043.3 + 15 4166 c.3826C>A c.(3826-3828)Cca>Aca p.P1276T PHF3_ENST00000393387.1_Missense_Mutation_p.P1276T Q92576 PHF3_HUMAN PHD finger protein 3 1276 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding p.P1276T(1) breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TCGCTTCACACCAGTAACTGA 0.338000 16 23 9.16793e-09 1.08851e-08 0.004990 1 0 OR2L8 391190 broad.mit.edu 37 1 248112550 248112550 + Missense_Mutation SNP T T A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:248112550T>A ENST00000357191.3 + 1 391 c.391T>A c.(391-393)Tat>Aat p.Y131N OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Y131N(1) endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TCCTCTCCACTATCTCATCCG 0.438000 48 239 0 0 0.014410 0 0 ZNF594 84622 broad.mit.edu 37 17 5085737 5085737 + Silent SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr17:5085737G>A ENST00000399604.4 - 1 1955 c.1815C>T c.(1813-1815)ttC>ttT p.F605F ZNF594_ENST00000575779.1_Silent_p.F605F Q96JF6 ZN594_HUMAN zinc finger protein 594 605 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F605F(1) NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 AGCTCTGATTGAAAGTTTTCC 0.423000 95 190 0 0 0.014410 0 0 POT1 25913 broad.mit.edu 37 7 124503667 124503667 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr7:124503667C>A ENST00000357628.3 - 8 881 c.283G>T c.(283-285)Ggt>Tgt p.G95C POT1_ENST00000393329.1_5'UTR NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 95 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity p.G95C(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 CTGGTGATACCCTGAGTCTCC 0.398000 20 83 2.27731e-05 2.51243e-05 0.012319 1 0 TMEM132C 92293 broad.mit.edu 37 12 128899811 128899811 + Missense_Mutation SNP C C G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr12:128899811C>G ENST00000435159.2 + 2 620 c.620C>G c.(619-621)gCc>gGc p.A207G NM_001136103.2 NP_001129575.2 Q8N3T6 T132C_HUMAN transmembrane protein 132C 207 integral to membrane p.A207G(1) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1) 13 TGGTTCAGTGCCCCGACGGTG 0.662000 3 3 0 0 0.009096 0 0 MPP2 4355 broad.mit.edu 37 17 41958710 41958710 + Missense_Mutation SNP T T C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr17:41958710T>C ENST00000269095.4 - 8 1125 c.821A>G c.(820-822)cAt>cGt p.H274R MPP2_ENST00000518766.1_Missense_Mutation_p.H319R|MPP2_ENST00000523501.1_Missense_Mutation_p.H263R|MPP2_ENST00000520305.1_Missense_Mutation_p.H135R|MPP2_ENST00000461854.1_Missense_Mutation_p.H298R|MPP2_ENST00000536246.1_Missense_Mutation_p.H263R|MPP2_ENST00000377184.3_Missense_Mutation_p.H291R NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365.3 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 298 SH3. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity p.H274R(1) breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) CCCTTCGACATGGCATGCCTA 0.592000 OREG0024443 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 130 0 0 0.014410 0 0 ATP2B1 490 broad.mit.edu 37 12 89997942 89997942 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr12:89997942C>A ENST00000428670.3 - 16 3080 c.2624G>T c.(2623-2625)tGc>tTc p.C875F ATP2B1_ENST00000261173.2_Missense_Mutation_p.C875F|ATP2B1_ENST00000393164.2_Missense_Mutation_p.C618F|ATP2B1_ENST00000348959.3_Missense_Mutation_p.C875F|ATP2B1_ENST00000359142.3_Missense_Mutation_p.C875F P20020 AT2B1_HUMAN ATPase, Ca++ transporting, plasma membrane 1 875 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding p.C875F(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 TTGAGTAATGCAGGCGCCCGT 0.333000 10 37 1.5842e-08 1.86906e-08 0.001855 1 0 ACAD8 27034 broad.mit.edu 37 11 134131236 134131236 + Missense_Mutation SNP G G C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:134131236G>C ENST00000281182.4 + 8 1015 c.909G>C c.(907-909)aaG>aaC p.K303N ACAD8_ENST00000524547.1_3'UTR|ACAD8_ENST00000374752.4_Missense_Mutation_p.K176N|ACAD8_ENST00000537423.1_Missense_Mutation_p.K226N|ACAD8_ENST00000543332.1_Missense_Mutation_p.K205N NM_014384.2 NP_055199.1 Q9UKU7 ACAD8_HUMAN acyl-CoA dehydrogenase family, member 8 303 branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding p.K303N(1) endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 14 all_hematologic(175;0.127) all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559) Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21) ATGTCCGGAAGCAGTTTGGAG 0.602000 9 80 0 0 0.006214 0 0 SMARCA4 6597 broad.mit.edu 37 19 11169547 11169547 + Silent SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr19:11169547C>T ENST00000358026.2 + 33 4997 c.4713C>T c.(4711-4713)ttC>ttT p.F1571F SMARCA4_ENST00000429416.3_Silent_p.F1539F|SMARCA4_ENST00000444061.3_Silent_p.F1505F|SMARCA4_ENST00000450717.3_Silent_p.F1508F|SMARCA4_ENST00000344626.4_Silent_p.F1539F|SMARCA4_ENST00000541122.2_Silent_p.F1509F|SMARCA4_ENST00000413806.3_Silent_p.F1509F|SMARCA4_ENST00000589677.1_Silent_p.F1508F|SMARCA4_ENST00000590574.1_Silent_p.F1506F NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1539 Poly-Glu. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.F1571F(1)|p.F1539F(1)|p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) CACAGACCTTCAACCTGGAGG 0.627000 """F, N, Mis""" NSCLC 22 42 0 0 0.002780 0 0 ANK2 287 broad.mit.edu 37 4 114278296 114278296 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr4:114278296G>T ENST00000357077.4 + 38 8575 c.8522G>T c.(8521-8523)aGt>aTt p.S2841I ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S2808I|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2808 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.S2841I(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GATTGCCCCAGTGAAAGCTTT 0.388000 61 185 4.64241e-40 6.97293e-40 0.014410 1 0 ZNF479 90827 broad.mit.edu 37 7 57187793 57187793 + Silent SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr7:57187793G>T ENST00000331162.4 - 5 1599 c.1329C>A c.(1327-1329)ggC>ggA p.G443G NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 443 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G443G(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) TAAAGGCTTTGCCACATTCTT 0.433000 26 75 4.44401e-20 6.17866e-20 0.010771 1 0 EGFR 1956 broad.mit.edu 37 7 55227926 55227926 + Missense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr7:55227926G>A ENST00000275493.2 + 12 1570 c.1393G>A c.(1393-1395)Gga>Aga p.G465R EGFR_ENST00000454757.2_Missense_Mutation_p.G412R|EGFR_ENST00000442591.1_Missense_Mutation_p.G465R|EGFR_ENST00000342916.3_Missense_Mutation_p.G465R|EGFR_ENST00000455089.1_Missense_Mutation_p.G420R|EGFR_ENST00000344576.2_Missense_Mutation_p.G465R NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 465 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.G465R(2) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GATAATTTCAGGAAACAAAAA 0.393000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 35 91 0 0 0.003755 0 0 ABCA13 154664 broad.mit.edu 37 7 48335346 48335346 + Missense_Mutation SNP T T G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr7:48335346T>G ENST00000435803.1 + 21 9029 c.9005T>G c.(9004-9006)cTt>cGt p.L3002R NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3002 transport integral to membrane ATP binding|ATPase activity p.L3002R(1)|p.L2947R(1) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TGTGAAAGTCTTAGCAAGAAT 0.448000 22 250 0 0 0.010504 0 0 ACTL9 284382 broad.mit.edu 37 19 8807981 8807981 + Missense_Mutation SNP C C G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr19:8807981C>G ENST00000324436.3 - 1 1191 c.1071G>C c.(1069-1071)gaG>gaC p.E357D NM_178525.3 NP_848620.2 Q8TC94 ACTL9_HUMAN actin-like 9 357 cytoplasm|cytoskeleton p.E357D(1) NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 CGCGCAGCAGCTCTGCCCGGA 0.657000 15 17 0 0 0.004990 0 0 MEFV 4210 broad.mit.edu 37 16 3299678 3299678 + Missense_Mutation SNP A A C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr16:3299678A>C ENST00000219596.1 - 3 1052 c.1013T>G c.(1012-1014)gTt>gGt p.V338G MEFV_ENST00000339854.4_Missense_Mutation_p.V158G|MEFV_ENST00000536379.1_Missense_Mutation_p.V127G|MEFV_ENST00000541159.1_Missense_Mutation_p.V127G NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 338 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding p.V127G(1)|p.V338G(1) NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) GTGCCCAGAAACTGCCTCGGG 0.677000 18 35 0 0 0.010504 0 0 ABCB5 340273 broad.mit.edu 37 7 20784894 20784894 + Missense_Mutation SNP T T C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr7:20784894T>C ENST00000404938.2 + 26 3914 c.3262T>C c.(3262-3264)Tgg>Cgg p.W1088R ABCB5_ENST00000258738.6_Missense_Mutation_p.W643R NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 643 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity p.W1088R(1)|p.W643R(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GAATGTACAGTGGCTCCGTTC 0.463000 18 69 0 0 0.003954 0 0 ZNF578 147660 broad.mit.edu 37 19 53007912 53007912 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr19:53007912G>T ENST00000421239.2 + 5 312 c.68G>T c.(67-69)cGc>cTc p.R23L NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R23L(1) GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) TTTTAGGGACGCTTGACTTTC 0.403000 43 120 1.11015e-26 1.58472e-26 0.014410 1 0 NDST4 64579 broad.mit.edu 37 4 115998178 115998178 + Silent SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr4:115998178C>T ENST00000264363.2 - 2 693 c.15G>A c.(13-15)gtG>gtA p.V5V NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 5 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity p.V5V(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TCCGAAGTTTCACAATAAGAT 0.343000 6 14 0 0 0.004482 0 0 PLEC 5339 broad.mit.edu 37 8 144997574 144997574 + Missense_Mutation SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr8:144997574C>T ENST00000322810.4 - 31 7103 c.6934G>A c.(6934-6936)Gag>Aag p.E2312K PLEC_ENST00000527096.1_Missense_Mutation_p.E2198K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2202K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2153K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2175K|PLEC_ENST00000398774.2_Missense_Mutation_p.E2143K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2179K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2161K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2175K NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2312 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle p.E2312K(1)|p.E2202K(1)|p.E2175K(1) NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 AGCGTCTGCTCGGCGAATTTC 0.667000 4 28 0 0 0.000602 0 0 HOXA5 3202 broad.mit.edu 37 7 27181467 27181467 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr7:27181467G>T ENST00000222726.3 - 2 860 c.800C>A c.(799-801)gCc>gAc p.A267D HOXA3_ENST00000467897.2_Intron|HOXA5_ENST00000520854.1_5'UTR|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA NM_019102.3 NP_061975.2 P20719 HXA5_HUMAN homeobox A5 267 negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A267D(1) central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1) 16 GGGACGGAAGGCCCCTCCTGC 0.468000 OREG0017911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 114 0.00136819 0.00142934 0.013537 1 0 TRPM1 4308 broad.mit.edu 37 15 31354818 31354818 + Missense_Mutation SNP A A C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr15:31354818A>C ENST00000542188.1 - 8 1417 c.1104T>G c.(1102-1104)ttT>ttG p.F368L TRPM1_ENST00000256552.6_Missense_Mutation_p.F351L|TRPM1_ENST00000397795.2_Missense_Mutation_p.F329L NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 329 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity p.F329L(1) NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TTATAATTGCAAACAGCTGAT 0.333000 25 104 0 0 0.005443 0 0 SUMO3 6612 broad.mit.edu 37 21 46228916 46228916 + Missense_Mutation SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr21:46228916C>T ENST00000397898.3 - 3 350 c.268G>A c.(268-270)Gcg>Acg p.A90T SUMO3_ENST00000411651.2_Intron|SUMO3_ENST00000397893.3_Intron|SUMO3_ENST00000479153.1_Intron|SUMO3_ENST00000332859.6_Intron P55854 SUMO3_HUMAN small ubiquitin-like modifier 3 0 Ubiquitin-like. protein sumoylation cytoplasm|kinetochore protein binding prostate(1) 1 Colorectal(79;0.058) AGTTACCCCGCACAAATCGGA 0.453000 8 27 0 0 0.003080 0 0 ANKK1 255239 broad.mit.edu 37 11 113266799 113266799 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:113266799G>T ENST00000303941.3 + 5 787 c.693G>T c.(691-693)atG>atT p.M231I NM_178510.1 NP_848605.1 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 231 Protein kinase. ATP binding|protein serine/threonine kinase activity p.M231I(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) GGTTCAACATGATGATGATTA 0.602000 12 58 8.04996e-18 1.09479e-17 0.012319 1 0 POLR1A 25885 broad.mit.edu 37 2 86255764 86255764 + Missense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr2:86255764G>A ENST00000263857.6 - 32 5228 c.4850C>T c.(4849-4851)gCg>gTg p.A1617V POLR1A_ENST00000409681.1_Missense_Mutation_p.A1556V O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 1617 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding p.A1617V(1) NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 CACCCGCAGCGCGGCCTCAAT 0.567000 10 119 0 0 0.001855 0 0 ADAM2 2515 broad.mit.edu 37 8 39604102 39604102 + Missense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr8:39604102G>A ENST00000265708.4 - 19 2166 c.2063C>T c.(2062-2064)cCa>cTa p.P688L ADAM2_ENST00000521880.1_Missense_Mutation_p.P625L|ADAM2_ENST00000379853.2_Missense_Mutation_p.P532L|ADAM2_ENST00000347580.4_Missense_Mutation_p.P669L NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 688 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.P688L(1) haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TAAGAAAAATGGCCATCTCAT 0.313000 16 49 0 0 0.006122 0 0 REV1 51455 broad.mit.edu 37 2 100050907 100050907 + Missense_Mutation SNP T T A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr2:100050907T>A ENST00000258428.3 - 8 1553 c.1325A>T c.(1324-1326)aAa>aTa p.K442I REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.K442I NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 442 UmuC. DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding p.K442I(1) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AGCCACTGGTTTTCCTGTGAG 0.393000 Direct reversal of damage 12 16 0 0 0.006320 0 0 TLN2 83660 broad.mit.edu 37 15 62989999 62989999 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr15:62989999G>T ENST00000561311.1 + 14 1635 c.1405G>T c.(1405-1407)Ggc>Tgc p.G469C TLN2_ENST00000306829.6_Missense_Mutation_p.G469C Q9Y4G6 TLN2_HUMAN talin 2 469 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton p.G469F(1) NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 CTTCAACGTTGGCAGCATGCC 0.667000 31 59 1.80694e-10 2.20849e-10 0.009535 1 0 HPS6 79803 broad.mit.edu 37 10 103826182 103826182 + Silent SNP A A G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr10:103826182A>G ENST00000299238.5 + 1 1036 c.951A>G c.(949-951)ctA>ctG p.L317L NM_024747.5 NP_079023.2 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome 6 317 cytosol|early endosome membrane|endoplasmic reticulum|microsome p.L317L(1) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1) 11 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) CTGCAGCCCTAGGCACATTTC 0.632000 Hermansky-Pudlak syndrome 34 77 0 0 0.003755 0 0 PEG3 5178 broad.mit.edu 37 19 57325767 57325767 + Missense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr19:57325767G>A ENST00000326441.9 - 10 4406 c.4043C>T c.(4042-4044)aCt>aTt p.T1348I ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.T1222I|PEG3_ENST00000598410.1_Missense_Mutation_p.T1224I|PEG3_ENST00000423103.2_Missense_Mutation_p.T1348I|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1348 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.T1348I(2) NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CTTATGTTTAGTGAGGACTGT 0.448000 21 58 0 0 0.012319 0 0 GPR4 2828 broad.mit.edu 37 19 46095096 46095096 + Missense_Mutation SNP T T G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr19:46095096T>G ENST00000323040.4 - 2 973 c.29A>C c.(28-30)cAc>cCc p.H10P OPA3_ENST00000544371.1_Intron NM_005282.2 NP_005273.1 P46093 GPR4_HUMAN G protein-coupled receptor 4 10 integral to plasma membrane G-protein coupled receptor activity p.H10P(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) CGAGTCCACGTGGCAGCCCTC 0.692000 24 39 0 0 0.007291 0 0 OR2A1 346528 broad.mit.edu 37 7 144015469 144015469 + Silent SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr7:144015469C>A ENST00000408951.1 + 1 252 c.252C>A c.(250-252)ctC>ctA p.L84L RP4-798C17.6_ENST00000489488.1_RNA|RP4-798C17.6_ENST00000496968.1_RNA|RP4-798C17.6_ENST00000475089.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000488041.1_RNA|RP4-798C17.6_ENST00000493539.1_RNA|RP4-798C17.6_ENST00000467944.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000486094.1_RNA NM_001005287.1 NP_001005287.1 Q8NGT9 OR2A1_HUMAN olfactory receptor, family 2, subfamily A, member 1 84 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L84L(1) large_intestine(1)|lung(3)|skin(2) 6 Melanoma(164;0.14) TGGCGAACCTCCTGCATCCAG 0.567000 7 148 1.49906e-05 1.65872e-05 0.002450 1 0 GLDC 2731 broad.mit.edu 37 9 6602206 6602206 + Splice_Site SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr9:6602206C>A ENST00000321612.6 - 8 1209 c.e8-1 NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding p.?(1) cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) AGTGGCATCTCTACACCAAGA 0.443000 20 34 4.35082e-09 5.2154e-09 0.010504 1 0 CCDC88B 283234 broad.mit.edu 37 11 64111949 64111949 + Missense_Mutation SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:64111949C>T ENST00000356786.5 + 14 1980 c.1936C>T c.(1936-1938)Cct>Tct p.P646S CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 646 microtubule cytoskeleton organization cytoplasm microtubule binding p.P646S(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ACAGGAGGGCCCTGAGCACAA 0.657000 10 26 0 0 0.010729 0 0 ZC3H14 79882 broad.mit.edu 37 14 89061323 89061323 + Nonsense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr14:89061323G>T ENST00000555900.1 + 1 565 c.253G>T c.(253-255)Gag>Tag p.E85* ZC3H14_ENST00000251038.5_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000555755.1_Intron|ZC3H14_ENST00000318308.6_Nonsense_Mutation_p.E85*|ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000406216.3_Nonsense_Mutation_p.E85*|ZC3H14_ENST00000556945.1_Intron Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 302 cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding p.E85*(1) cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 TTCATCTTTGGAGGTTAAAAT 0.313000 7 34 0.000157383 0.000169142 0.003080 1 0 CHAT 1103 broad.mit.edu 37 10 50863273 50863273 + Silent SNP T T A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr10:50863273T>A ENST00000395562.2 + 13 1990 c.1521T>A c.(1519-1521)gcT>gcA p.A507A CHAT_ENST00000337653.2_Silent_p.A589A|CHAT_ENST00000395559.2_Silent_p.A471A|CHAT_ENST00000339797.1_Silent_p.A471A|CHAT_ENST00000455728.2_Silent_p.A471A|CHAT_ENST00000351556.3_Silent_p.A471A NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 589 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity p.A589A(1) central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) ACCACAAGGCTGCTGTGCCAG 0.642000 29 69 0 0 0.013726 0 0 POLR2A 5430 broad.mit.edu 37 17 7416687 7416687 + Missense_Mutation SNP A A T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr17:7416687A>T ENST00000322644.6 + 29 5503 c.5104A>T c.(5104-5106)Aca>Tca p.T1702S NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 1702 52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN]. mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding p.T1702S(1) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) ctactcaccgacatctcccag 0.587000 17 18 0 0 0.006122 0 0 SCN2A 6326 broad.mit.edu 37 2 166245809 166245809 + Silent SNP A A T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr2:166245809A>T ENST00000375437.2 + 27 5783 c.5493A>T c.(5491-5493)atA>atT p.I1831I SCN2A_ENST00000283256.6_Silent_p.I1831I|SCN2A_ENST00000375427.2_Silent_p.I1831I|SCN2A_ENST00000357398.3_Silent_p.I1831I NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1831 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity p.A1832S(2) NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) CTCTTCTCATAGCAAAACCCA 0.463000 56 88 0 0 0.014410 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72200383 72200383 + Splice_Site SNP G G C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr14:72200383G>C ENST00000555818.1 + 19 5273 c.4924_splice c.e19-1 p.G1642_splice SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Splice_Site_p.G1621_splice|SIPA1L1_ENST00000358550.2_Splice_Site_p.G1621_splice|SIPA1L1_ENST00000537413.1_Splice_Site_p.G1096_splice NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1642 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity p.G1642A(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) CTTCCCGCAGGAGAGTTCTCA 0.557000 21 90 0 0 0.014323 0 0 TLL2 7093 broad.mit.edu 37 10 98146791 98146791 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr10:98146791G>T ENST00000357947.3 - 14 1996 c.1771C>A c.(1771-1773)Cgc>Agc p.R591S NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 591 EGF-like 1; calcium-binding (Potential). EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871). cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding p.R591S(1) NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) TTCACACAGCGATGCTCGCAC 0.597000 25 45 3.73988e-18 5.1048e-18 0.006320 1 0 KCNH4 23415 broad.mit.edu 37 17 40312060 40312060 + Nonstop_Mutation SNP A A T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr17:40312060A>T ENST00000264661.3 - 16 3384 c.3052T>A c.(3052-3054)Tga>Aga p.*1018R KCNH4_ENST00000607371.1_Nonstop_Mutation_p.*1018R NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 0 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity p.*1018R(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GGCCAGGGTCAGTGGAACGTG 0.672000 17 58 0 0 0.007413 0 0 RHOB 388 broad.mit.edu 37 2 20647421 20647421 + Silent SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr2:20647421C>T ENST00000272233.4 + 1 587 c.195C>T c.(193-195)gaC>gaT p.D65D NM_004040.2 NP_004031.1 P62745 RHOB_HUMAN ras homolog family member B 65 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding p.D65D(1) breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) GCCAGGAGGACTACGACCGCC 0.637000 17 28 0 0 0.005443 0 0 FASN 2194 broad.mit.edu 37 17 80046702 80046702 + Missense_Mutation SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr17:80046702C>T ENST00000306749.2 - 15 2573 c.2355G>A c.(2353-2355)atG>atA p.M785I NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 785 Acyl and malonyl transferases (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding p.M785I(1) central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) GATCCTTCTTCATCAGGGGGA 0.667000 15 61 0 0 0.006122 0 0 ETS2 2114 broad.mit.edu 37 21 40186898 40186898 + Missense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr21:40186898G>A ENST00000360214.3 + 6 958 c.498G>A c.(496-498)atG>atA p.M166I ETS2_ENST00000360938.3_Missense_Mutation_p.M166I NM_001256295.1 NP_001243224.1 P15036 ETS2_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 2 166 PNT. positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity p.M166I(2) NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) TGGAGCAAATGATCAAAGGTA 0.507000 40 140 0 0 0.007835 0 0 ARID1B 57492 broad.mit.edu 37 6 157502244 157502244 + Missense_Mutation SNP G G C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr6:157502244G>C ENST00000346085.5 + 12 3278 c.3277G>C c.(3277-3279)Gtg>Ctg p.V1093L ARID1B_ENST00000478761.1_3'UTR|ARID1B_ENST00000350026.5_Missense_Mutation_p.V1080L|ARID1B_ENST00000275248.4_Missense_Mutation_p.V1075L|ARID1B_ENST00000367148.1_Missense_Mutation_p.V1133L NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1080 ARID. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity p.V1093L(1)|p.V1075L(1) NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) TCTGCCTGCCGTGGGCAAGAA 0.572000 24 23 0 0 0.006320 0 0 AHNAK 79026 broad.mit.edu 37 11 62297219 62297219 + Missense_Mutation SNP G G C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:62297219G>C ENST00000378024.4 - 5 4944 c.4670C>G c.(4669-4671)gCt>gGt p.A1557G AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1557 nervous system development nucleus protein binding p.A1557G(1) 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) CCCCTCTGGAGCTTCAAGATT 0.468000 67 189 0 0 0.014410 0 0 NRXN2 9379 broad.mit.edu 37 11 64428366 64428366 + Missense_Mutation SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:64428366C>T ENST00000265459.6 - 10 2505 c.2044G>A c.(2044-2046)Gtt>Att p.V682I NRXN2_ENST00000377559.3_Missense_Mutation_p.V651I|NRXN2_ENST00000409571.1_Missense_Mutation_p.V675I|NRXN2_ENST00000377551.1_Missense_Mutation_p.V682I|NRXN2_ENST00000496291.1_5'UTR NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 682 Laminin G-like 3. cell adhesion integral to membrane metal ion binding p.V682I(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 AAGGGGGCAACGCCCACAGCC 0.652000 21 59 0 0 0.012319 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3672024 3672024 + Silent SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr20:3672024C>A ENST00000344754.4 - 17 4553 c.4554G>T c.(4552-4554)ggG>ggT p.G1518G SIGLEC1_ENST00000202578.4_Silent_p.G1518G NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 1518 Ig-like C2-type 15. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding p.G1518G(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 AGGCAGCAGCCCCAGTGGGGA 0.642000 32 72 4.62619e-21 6.48013e-21 0.004289 1 0 ZSWIM8 23053 broad.mit.edu 37 10 75557714 75557714 + Missense_Mutation SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr10:75557714C>T ENST00000604729.1 + 19 4135 c.3838C>T c.(3838-3840)Cgc>Tgc p.R1280C ZSWIM8_ENST00000605216.1_Missense_Mutation_p.R1275C|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R1275C|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R1280C|NDST2_ENST00000456638.1_5'UTR|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R1242C zinc finger, SWIM-type containing 8 p.R660C(1)|p.R1280C(1)|p.R1275C(1) GGGTCCTCACCGCAACCTGCA 0.552000 13 127 0 0 0.002450 0 0 ZNF423 23090 broad.mit.edu 37 16 49670145 49670145 + Missense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr16:49670145G>A ENST00000561648.1 - 4 2971 c.2918C>T c.(2917-2919)aCg>aTg p.T973M ZNF423_ENST00000563137.2_Missense_Mutation_p.T913M|ZNF423_ENST00000535559.1_Missense_Mutation_p.T856M|ZNF423_ENST00000567169.1_Missense_Mutation_p.T856M|ZNF423_ENST00000262383.2_Missense_Mutation_p.T973M|ZNF423_ENST00000562520.1_Missense_Mutation_p.T913M|ZNF423_ENST00000562871.1_Missense_Mutation_p.T913M NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 973 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.T973M(2) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) TTCGGTGAGCGTCAGCAGCGA 0.612000 10 58 0 0 0.001855 0 0 PKHD1 5314 broad.mit.edu 37 6 51612586 51612586 + Splice_Site SNP T T A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr6:51612586T>A ENST00000371117.3 - 58 10103 c.9829_splice c.e58+1 p.Q3276_splice PKHD1_ENST00000340994.4_Splice_Site_p.Q3276_splice NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3276 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity p.Q3276H(2) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) ACATCCTACCTTGAAGTTTCA 0.368000 27 33 0 0 0.008361 0 0 CACNG5 27091 broad.mit.edu 37 17 64873625 64873625 + Missense_Mutation SNP T T A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr17:64873625T>A ENST00000533854.1 + 2 412 c.175T>A c.(175-177)Tgg>Agg p.W59R CACNG5_ENST00000169565.3_Missense_Mutation_p.W59R|CACNG5_ENST00000307139.3_Missense_Mutation_p.W59R Q9UF02 CCG5_HUMAN calcium channel, voltage-dependent, gamma subunit 5 59 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity p.W59R(2) NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) CTCAGGCCTCTGGCGGGTCTG 0.622000 32 76 0 0 0.012213 0 0 AMER3 205147 broad.mit.edu 37 2 131520566 131520566 + Silent SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr2:131520566C>T ENST00000423981.1 + 2 1031 c.921C>T c.(919-921)acC>acT p.T307T AMER3_ENST00000321420.4_Silent_p.T307T NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 p.T307T(1) CTGACTTCACCAGGTTCTGGG 0.652000 37 37 0 0 0.007835 0 0 TSSC2 650368 broad.mit.edu 37 11 3426172 3426172 + RNA SNP C C G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:3426172C>G ENST00000529482.1 + 0 845 GGCTGGAGGCCGAGGACTACC 0.612000 14 38 0 0 0.002450 0 0 RPGR 6103 broad.mit.edu 37 X 38132728 38132728 + Missense_Mutation SNP A A G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chrX:38132728A>G ENST00000339363.3 - 17 2934 c.2767T>C c.(2767-2769)Tac>Cac p.Y923H RPGR_ENST00000309513.3_Missense_Mutation_p.Y656H|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Missense_Mutation_p.Y718H|RPGR_ENST00000338898.3_3'UTR Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator 923 intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding p.Y718H(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 TCAAGCATGTATCCTACAATT 0.358000 2 8 0 0 0.004672 0 0 GPR158 57512 broad.mit.edu 37 10 25886786 25886786 + Missense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr10:25886786G>A ENST00000376351.3 + 11 2590 c.2231G>A c.(2230-2232)cGg>cAg p.R744Q GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 744 integral to membrane|plasma membrane G-protein coupled receptor activity p.R744Q(1) breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 CAGAAAAAGCGGTGCTCGAAG 0.498000 24 193 0 0 0.005443 0 0 TRPC4 7223 broad.mit.edu 37 13 38320578 38320578 + Silent SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr13:38320578G>T ENST00000379705.3 - 3 1250 c.393C>A c.(391-393)ctC>ctA p.L131L TRPC4_ENST00000379673.2_Silent_p.L131L|TRPC4_ENST00000379681.3_Silent_p.L131L|TRPC4_ENST00000358477.2_Silent_p.L131L|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000447043.1_Silent_p.L131L|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000426868.2_Silent_p.L131L|TRPC4_ENST00000355779.2_Silent_p.L131L Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 131 Multimerization domain (By similarity). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity p.L131L(2) NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GCTTATCAAGGAGTATAGGAG 0.343000 37 106 2.54651e-27 3.64902e-27 0.006999 1 0 PTPRD 5789 broad.mit.edu 37 9 8518298 8518298 + Nonsense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr9:8518298C>A ENST00000381196.4 - 18 1636 c.1093G>T c.(1093-1095)Gaa>Taa p.E365* PTPRD_ENST00000358503.5_Nonsense_Mutation_p.E352*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.E365*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.E355*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.E355*|PTPRD_ENST00000486161.1_Nonsense_Mutation_p.E365*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.E362*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.E365*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.E352*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.E362*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.E365* NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 365 Fibronectin type-III 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.E364_E365>D*(4) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TTGTAAAGTTCCTCAGAGTTT 0.458000 TSP Lung(15;0.13) 57 95 7.89702e-26 1.123e-25 0.014410 1 0 PIEZO2 63895 broad.mit.edu 37 18 10672737 10672737 + Silent SNP G G C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr18:10672737G>C ENST00000302079.6 - 50 7766 c.7767C>G c.(7765-7767)gtC>gtG p.V2589V PIEZO2_ENST00000503781.3_Silent_p.V2652V|PIEZO2_ENST00000285141.4_Silent_p.V444V|PIEZO2_ENST00000538948.1_Silent_p.V609V|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000580640.1_Silent_p.V2677V Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2652 integral to membrane ion channel activity p.V444V(1)|p.V2652V(1) TGTCATTGAAGACCACCAGTT 0.453000 25 80 0 0 0.004656 0 0 TEP1 7011 broad.mit.edu 37 14 20859920 20859920 + Nonsense_Mutation SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr14:20859920C>T ENST00000262715.5 - 13 1975 c.1935G>A c.(1933-1935)tgG>tgA p.W645* TEP1_ENST00000556935.1_Nonsense_Mutation_p.W537* NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 645 TROVE. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding p.W645*(1) NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CATCATATTTCCACTGTCTAC 0.542000 42 109 0 0 0.010771 0 0 NF1 4763 broad.mit.edu 37 17 29560147 29560147 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr17:29560147G>T ENST00000358273.4 + 27 4007 c.3624G>T c.(3622-3624)ttG>ttT p.L1208F NF1_ENST00000356175.3_Missense_Mutation_p.L1208F NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1208 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4)|p.L1208F(2)|p.G1190fs*1(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TTGAGAGATTGGTGGAACTGG 0.438000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 34 128 2.04263e-09 2.45641e-09 0.004289 1 0 OTUD7B 56957 broad.mit.edu 37 1 149919162 149919162 + Missense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:149919162G>A ENST00000369135.3 - 11 1607 c.1313C>T c.(1312-1314)tCt>tTt p.S438F NM_020205.2 NP_064590.2 Q6GQQ9 OTU7B_HUMAN OTU domain containing 7B 438 Catalytic. negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding p.S438F(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) CTGTGCATCAGAGGACAGTGG 0.418000 32 98 0 0 0.012213 0 0 KIAA0226L 80183 broad.mit.edu 37 13 46946499 46946499 + Missense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr13:46946499G>A ENST00000429979.1 - 3 716 c.112C>T c.(112-114)Cct>Tct p.P38S KIAA0226L_ENST00000480935.1_Intron|KIAA0226L_ENST00000534925.1_Intron|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.P38S|KIAA0226L_ENST00000378784.4_Intron|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.P38S|KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.P38S|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.P38S NM_025113.2 NP_079389.2 Q9H714 CM018_HUMAN KIAA0226-like 38 p.P38S(1) NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1) 26 TGGCAAGGAGGATGGTCAGTG 0.537000 10 27 0 0 0.008291 0 0 HEATR1 55127 broad.mit.edu 37 1 236732404 236732404 + Missense_Mutation SNP G G C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:236732404G>C ENST00000366582.3 - 29 4083 c.3969C>G c.(3967-3969)atC>atG p.I1323M HEATR1_ENST00000366581.2_Missense_Mutation_p.I1242M NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1323 rRNA processing nucleolus|ribonucleoprotein complex protein binding p.I1323M(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AAATAGACATGATATTGTGTA 0.313000 7 48 0 0 0.003080 0 0 OR2T33 391195 broad.mit.edu 37 1 248436673 248436673 + Silent SNP G G A rs150467351 TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:248436673G>A ENST00000318021.2 - 1 465 c.444C>T c.(442-444)ctC>ctT p.L148L NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L148L(1) 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) CTGCACCCAGGAGCCAACACG 0.592000 21 89 0 0 0.014323 0 0 FAT4 79633 broad.mit.edu 37 4 126373678 126373678 + Missense_Mutation SNP T T A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr4:126373678T>A ENST00000394329.3 + 9 11520 c.11507T>A c.(11506-11508)aTc>aAc p.I3836N FAT4_ENST00000335110.5_Missense_Mutation_p.I2134N NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3836 EGF-like 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.I3836N(2) 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 CTTCCAGTCATCATCGTGGCA 0.478000 13 55 0 0 0.002450 0 0 POLR2B 5431 broad.mit.edu 37 4 57873091 57873091 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr4:57873091G>T ENST00000381227.1 + 11 1740 c.1327G>T c.(1327-1329)Ggc>Tgc p.G443C POLR2B_ENST00000314595.5_Missense_Mutation_p.G443C|POLR2B_ENST00000441246.2_Missense_Mutation_p.G436C|POLR2B_ENST00000431623.2_Missense_Mutation_p.G368C P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 443 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding p.G443C(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) CATATCTGATGGCCTAAAATA 0.398000 20 85 1.40151e-16 1.89915e-16 0.010504 1 0 WFDC10B 280664 broad.mit.edu 37 20 44313498 44313498 + Missense_Mutation SNP A A T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr20:44313498A>T ENST00000330523.5 - 4 423 c.193T>A c.(193-195)Tgt>Agt p.C65S WFDC10B_ENST00000335769.2_Missense_Mutation_p.C81S NM_172006.2 NP_742003.1 Q8IUB3 WF10B_HUMAN WAP four-disulfide core domain 10B 65 WAP. extracellular region peptidase inhibitor activity p.C65S(1) lung(2)|ovary(1)|stomach(1) 4 Myeloproliferative disorder(115;0.0122) ATGTTCCCACAGAAGGCTGAA 0.478000 50 112 0 0 0.014410 0 0 AMER3 205147 broad.mit.edu 37 2 131521626 131521626 + Missense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr2:131521626G>A ENST00000423981.1 + 2 2091 c.1981G>A c.(1981-1983)Ggt>Agt p.G661S AMER3_ENST00000321420.4_Missense_Mutation_p.G661S NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 p.G661S(1) CTGGAGGCCAGGTCACGGAGG 0.647000 8 14 0 0 0.010729 0 0 TLN2 83660 broad.mit.edu 37 15 62990000 62990000 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr15:62990000G>T ENST00000561311.1 + 14 1636 c.1406G>T c.(1405-1407)gGc>gTc p.G469V TLN2_ENST00000306829.6_Missense_Mutation_p.G469V Q9Y4G6 TLN2_HUMAN talin 2 469 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton p.G469F(1) NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 TTCAACGTTGGCAGCATGCCC 0.662000 31 60 1.80694e-10 2.20849e-10 0.009535 1 0 EZH1 2145 broad.mit.edu 37 17 40857122 40857122 + Missense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr17:40857122G>A ENST00000428826.2 - 17 2040 c.1919C>T c.(1918-1920)tCt>tTt p.S640F EZH1_ENST00000592743.1_Missense_Mutation_p.S640F|EZH1_ENST00000435174.1_Missense_Mutation_p.S501F|EZH1_ENST00000415827.2_Missense_Mutation_p.S631F|EZH1_ENST00000590078.1_Missense_Mutation_p.S570F|EZH1_ENST00000585893.1_Missense_Mutation_p.S600F|EZH1_ENST00000590783.1_5'UTR Q92800 EZH1_HUMAN enhancer of zeste homolog 1 (Drosophila) 640 SET. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding p.S640F(1) breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) ACAGTATTCAGAAATGAATTC 0.522000 7 139 0 0 0.003080 0 0 POLR3A 11128 broad.mit.edu 37 10 79773475 79773475 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr10:79773475C>A ENST00000372371.3 - 11 1642 c.1505G>T c.(1504-1506)gGt>gTt p.G502V POLR3A_ENST00000484760.1_5'UTR NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 502 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding p.G502V(1) breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) CATTTCATCACCATCAAAGTC 0.463000 28 150 5.45727e-16 7.34179e-16 0.008361 1 0 SLC25A18 83733 broad.mit.edu 37 22 18063888 18063888 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr22:18063888C>A ENST00000327451.5 + 4 644 c.106C>A c.(106-108)Ctg>Atg p.L36M AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000497401.1_3'UTR|SLC25A18_ENST00000399813.1_Missense_Mutation_p.L36M NM_031481.1 NP_113669.1 Q9H1K4 GHC2_HUMAN solute carrier family 25 (glutamate carrier), member 18 36 integral to membrane|mitochondrial inner membrane binding|symporter activity p.L36M(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6) 18 Lung(27;0.124) L-Glutamic Acid(DB00142) CAAGACTCGCCTGCAGAACCA 0.627000 10 3 0.000673444 0.000709488 0.008291 1 0 TECTA 7007 broad.mit.edu 37 11 121008270 121008270 + Missense_Mutation SNP A A T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:121008270A>T ENST00000392793.1 + 11 3353 c.3082A>T c.(3082-3084)Agc>Tgc p.S1028C TECTA_ENST00000264037.2_Missense_Mutation_p.S1028C O75443 TECTA_HUMAN tectorin alpha 1028 TIL 2. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix p.S1028C(1) TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TCTACTGGGCAGCCAGTGTGT 0.572000 31 75 0 0 0.003271 0 0 PTPRD 5789 broad.mit.edu 37 9 8518299 8518299 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr9:8518299C>A ENST00000381196.4 - 18 1635 c.1092G>T c.(1090-1092)gaG>gaT p.E364D PTPRD_ENST00000358503.5_Missense_Mutation_p.E351D|PTPRD_ENST00000356435.5_Missense_Mutation_p.E364D|PTPRD_ENST00000397606.3_Missense_Mutation_p.E354D|PTPRD_ENST00000397617.3_Missense_Mutation_p.E354D|PTPRD_ENST00000486161.1_Missense_Mutation_p.E364D|PTPRD_ENST00000397611.3_Missense_Mutation_p.E361D|PTPRD_ENST00000355233.5_Missense_Mutation_p.E364D|PTPRD_ENST00000360074.4_Missense_Mutation_p.E351D|PTPRD_ENST00000537002.1_Missense_Mutation_p.E361D|PTPRD_ENST00000540109.1_Missense_Mutation_p.E364D NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 364 Fibronectin type-III 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.E364_E365>D*(4) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TGTAAAGTTCCTCAGAGTTTT 0.458000 TSP Lung(15;0.13) 56 96 5.22555e-25 7.40287e-25 0.014410 1 0 OR5L1 219437 broad.mit.edu 37 11 55579095 55579095 + Silent SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:55579095C>A ENST00000333973.2 + 1 242 c.153C>A c.(151-153)gtC>gtA p.V51V NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V51V(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TGATTCAGGTCAGCTCTCGGC 0.478000 84 222 1.48072e-28 2.12996e-28 0.014410 1 0 STAB2 55576 broad.mit.edu 37 12 104099502 104099502 + Silent SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr12:104099502C>T ENST00000388887.2 + 37 4197 c.3993C>T c.(3991-3993)gtC>gtT p.V1331V NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1331 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.V1331V(1) NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TGAGAACCGTCATTGTGAGTA 0.413000 27 59 0 0 0.006320 0 0 GREB1 9687 broad.mit.edu 37 2 11716647 11716647 + Missense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr2:11716647G>A ENST00000381486.2 + 5 923 c.623G>A c.(622-624)tGt>tAt p.C208Y GREB1_ENST00000263834.5_Missense_Mutation_p.C208Y|GREB1_ENST00000389825.3_Missense_Mutation_p.C98Y|GREB1_ENST00000234142.5_Missense_Mutation_p.C208Y|GREB1_ENST00000381483.2_Missense_Mutation_p.C208Y NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 208 integral to membrane p.C208Y(3) breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CCTTTAATCTGTTGGAAAGGC 0.527000 8 125 0 0 0.006214 0 0 NEURL4 84461 broad.mit.edu 37 17 7220798 7220798 + Nonsense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr17:7220798G>A ENST00000399464.2 - 27 4315 c.4300C>T c.(4300-4302)Cga>Tga p.R1434* NEURL4_ENST00000315614.7_Nonsense_Mutation_p.R1432*|NEURL4_ENST00000570460.1_Nonsense_Mutation_p.R1410*|NEURL4_ENST00000574120.1_5'UTR|RP11-542C16.2_ENST00000575474.1_Silent_p.T247T NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 p.R1434*(1)|p.R1432*(1) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AGCTCCCCTCGGTCCAGCACT 0.592000 21 148 0 0 0.014323 0 0 RBP3 5949 broad.mit.edu 37 10 48381910 48381910 + Silent SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr10:48381910G>A ENST00000224600.4 - 4 3852 c.3739C>T c.(3739-3741)Ctg>Ttg p.L1247L NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 1247 lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity p.L1247L(1) central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) CTTCCCTACAGGTGGTCCTGC 0.652000 7 23 0 0 0.004482 0 0 NID2 22795 broad.mit.edu 37 14 52493964 52493964 + Missense_Mutation SNP A A C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr14:52493964A>C ENST00000216286.5 - 12 2628 c.2629T>G c.(2629-2631)Tgt>Ggt p.C877G NID2_ENST00000541773.1_Intron NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 877 EGF-like 4. basement membrane calcium ion binding|collagen binding p.C877G(1) NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) AGGCAGGCACAGCTGAACGTG 0.592000 7 26 0 0 0.001984 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167783 140167783 + Silent SNP C C G rs146713367 TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr5:140167783C>G ENST00000504120.2 + 1 1908 c.1908C>G c.(1906-1908)gtC>gtG p.V636V PCDHA1_ENST00000378133.3_Silent_p.V636V|PCDHA1_ENST00000394633.3_Intron NM_018900.2 NP_061723.1 p.V636V(2) breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGACTCGTGTCCTGGACGAGG 0.647000 45 86 0 0 0.014410 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49304865 49304865 + Nonsense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr15:49304865G>A ENST00000559471.1 - 12 1974 c.1711C>T c.(1711-1713)Cga>Tga p.R571* SECISBP2L_ENST00000261847.3_Nonsense_Mutation_p.R526* NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 571 p.R526*(1) breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 GCTGTGGGTCGTTTTAGTTTT 0.333000 8 103 0 0 0.004482 0 0 LPHN3 23284 broad.mit.edu 37 4 62758579 62758579 + Silent SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr4:62758579C>T ENST00000512091.1 + 9 2229 c.1482C>T c.(1480-1482)ctC>ctT p.L494L LPHN3_ENST00000508693.1_Silent_p.L562L|LPHN3_ENST00000509896.1_Silent_p.L562L|LPHN3_ENST00000504896.1_Silent_p.L494L|LPHN3_ENST00000514591.1_Silent_p.L494L|LPHN3_ENST00000514157.1_Silent_p.L494L|LPHN3_ENST00000506720.1_Silent_p.L562L|LPHN3_ENST00000545650.1_Silent_p.L494L|LPHN3_ENST00000508946.1_Silent_p.L494L|LPHN3_ENST00000507625.1_Silent_p.L562L|LPHN3_ENST00000514996.1_Silent_p.L494L|LPHN3_ENST00000511324.1_Silent_p.L562L|LPHN3_ENST00000506746.1_Silent_p.L562L|LPHN3_ENST00000507164.1_Silent_p.L562L|LPHN3_ENST00000506700.1_Silent_p.L494L Q9HAR2 LPHN3_HUMAN latrophilin 3 494 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding p.L494L(3) breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TCCCAGCTCTCGAAGAGAGCT 0.507000 11 42 0 0 0.013537 0 0 UPF2 26019 broad.mit.edu 37 10 11978664 11978664 + Missense_Mutation SNP A A C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr10:11978664A>C ENST00000356352.2 - 18 3899 c.3426T>G c.(3424-3426)atT>atG p.I1142M UPF2_ENST00000357604.5_Missense_Mutation_p.I1142M|UPF2_ENST00000397053.2_Missense_Mutation_p.I1142M Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 1142 Necessary for interaction with UPF1.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding p.I1142M(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) GATGCAAAGGAATGGCAACAT 0.433000 30 66 0 0 0.010818 0 0 HPS6 79803 broad.mit.edu 37 10 103826164 103826164 + Silent SNP G G C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr10:103826164G>C ENST00000299238.5 + 1 1018 c.933G>C c.(931-933)ccG>ccC p.P311P NM_024747.5 NP_079023.2 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome 6 311 cytosol|early endosome membrane|endoplasmic reticulum|microsome p.P311P(1) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1) 11 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) CTGTAGGCCCGTGGGGGTCTG 0.642000 Hermansky-Pudlak syndrome 29 61 0 0 0.009535 0 0 ZNF669 79862 broad.mit.edu 37 1 247267335 247267335 + Missense_Mutation SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:247267335C>T ENST00000343381.6 - 1 339 c.167G>A c.(166-168)gGg>gAg p.G56E ZNF669_ENST00000366500.1_Intron|ZNF669_ENST00000366501.1_Intron|ZNF669_ENST00000358785.4_Missense_Mutation_p.G56E|ZNF669_ENST00000448299.2_Intron NM_024804.2 NP_079080.2 Q96BR6 ZN669_HUMAN zinc finger protein 669 56 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G56E(1) breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6) 17 all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00427) CGCTgcccgccccgcccggcc 0.726000 3 11 0 0 0.009096 0 0 CDH6 1004 broad.mit.edu 37 5 31305419 31305419 + Missense_Mutation SNP C C G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr5:31305419C>G ENST00000265071.2 + 7 1403 c.1138C>G c.(1138-1140)Cca>Gca p.P380A CDH6_ENST00000514738.1_Missense_Mutation_p.P325A NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 380 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding p.P380A(1) NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TGTAGATGAGCCACCTGTCTT 0.473000 5 109 0 0 0.000602 0 0 MYOM3 127294 broad.mit.edu 37 1 24400733 24400733 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:24400733C>A ENST00000330966.7 - 23 3050 c.2888G>T c.(2887-2889)gGc>gTc p.G963V MYOM3_ENST00000329601.7_Missense_Mutation_p.G962V|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.G962V|RP11-293P20.4_ENST00000429191.1_RNA Q5VTT5 MYOM3_HUMAN myomesin 3 962 p.G962V(1) 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) ATCCTCGAGGCCGGGTTCTTT 0.587000 46 94 1.23713e-20 1.72644e-20 0.014410 1 0 GRIA2 2891 broad.mit.edu 37 4 158284035 158284035 + Missense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr4:158284035G>A ENST00000296526.7 + 15 2816 c.2491G>A c.(2491-2493)Gct>Act p.A831T GRIA2_ENST00000264426.9_Missense_Mutation_p.A831T|GRIA2_ENST00000449365.1_Missense_Mutation_p.A784T|GRIA2_ENST00000507898.1_Missense_Mutation_p.A784T|GRIA2_ENST00000393815.2_Missense_Mutation_p.A784T NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 831 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.A831T(2) NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) AATGCTGGTGGCTTTGATTGA 0.468000 27 74 0 0 0.006320 0 0 TLL1 7092 broad.mit.edu 37 4 167012328 167012328 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr4:167012328C>A ENST00000061240.2 + 19 3138 c.2491C>A c.(2491-2493)Cac>Aac p.H831N TLL1_ENST00000507499.1_Missense_Mutation_p.H854N NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 831 CUB 4. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding p.H831N(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TGCTTATGACCACTTAGAAGT 0.338000 20 50 3.6726e-16 4.95868e-16 0.003954 1 0 CHERP 10523 broad.mit.edu 37 19 16631280 16631280 + Missense_Mutation SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr19:16631280C>T ENST00000546361.2 - 14 2391 c.2240G>A c.(2239-2241)gGg>gAg p.G747E CHERP_ENST00000198939.6_Missense_Mutation_p.G758E|CHERP_ENST00000544299.1_5'UTR|C19orf44_ENST00000221671.3_3'UTR|CTD-3222D19.2_ENST00000409035.1_Intron NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 747 Arg-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding p.G747E(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 GGAAGAACGCCCTCGACTCTT 0.627000 24 222 0 0 0.003954 0 0 REEP1 65055 broad.mit.edu 37 2 86459766 86459766 + Missense_Mutation SNP C C G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr2:86459766C>G ENST00000165698.5 - 6 720 c.577G>C c.(577-579)Gag>Cag p.E193Q REEP1_ENST00000541910.1_Silent_p.L114L|REEP1_ENST00000540790.1_Missense_Mutation_p.E172Q|REEP1_ENST00000538924.1_Missense_Mutation_p.E200Q|REEP1_ENST00000535845.1_Missense_Mutation_p.E166Q NM_022912.2 NP_075063.1 Q9H902 REEP1_HUMAN receptor accessory protein 1 193 cell death|protein insertion into membrane integral to membrane|mitochondrial membrane olfactory receptor binding p.E193Q(1) breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 13 CTAGCGCTCTCAGAAGCACTC 0.647000 18 38 0 0 0.008871 0 0 WDR35 57539 broad.mit.edu 37 2 20131061 20131061 + Missense_Mutation SNP T T A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr2:20131061T>A ENST00000345530.3 - 25 3081 c.2966A>T c.(2965-2967)cAg>cTg p.Q989L WDR35_ENST00000281405.4_Missense_Mutation_p.Q978L|WDR35_ENST00000416055.2_Missense_Mutation_p.Q462L NM_001006657.1 NP_001006658.1 Q9P2L0 WDR35_HUMAN WD repeat domain 35 989 p.Q989L(1) breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTTCCTCGCTGGGCATTCTT 0.343000 31 50 0 0 0.010818 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38162187 38162187 + Silent SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr8:38162187G>A ENST00000317025.8 - 14 3046 c.2529C>T c.(2527-2529)taC>taT p.Y843Y WHSC1L1_ENST00000433384.2_Silent_p.Y843Y|WHSC1L1_ENST00000527502.1_Silent_p.Y843Y NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 843 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding p.Y843Y(1) NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) AGATGAGAATGTAGGAGGATA 0.438000 T NUP98 AML 31 126 0 0 0.009535 0 0 OR4S2 219431 broad.mit.edu 37 11 55418741 55418741 + Missense_Mutation SNP A A T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:55418741A>T ENST00000312422.2 + 1 362 c.362A>T c.(361-363)tAt>tTt p.Y121F NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Y121F(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) TATGATCGTTATGTGGCTATC 0.428000 56 203 0 0 0.014410 0 0 PFKFB3 5209 broad.mit.edu 37 10 6262674 6262674 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr10:6262674G>T ENST00000379775.4 + 8 1007 c.677G>T c.(676-678)cGg>cTg p.R226L PFKFB3_ENST00000379782.3_Missense_Mutation_p.R226L|PFKFB3_ENST00000379785.1_Missense_Mutation_p.R226L|PFKFB3_ENST00000360521.2_Missense_Mutation_p.R226L|PFKFB3_ENST00000379789.4_Missense_Mutation_p.R206L|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000317350.4_Missense_Mutation_p.R226L|PFKFB3_ENST00000540253.1_Missense_Mutation_p.R240L NM_004566.3 NP_004557.1 Q16875 F263_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 226 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding p.R226L(2) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1) 22 CTGGTGAACCGGGTGCAGGAC 0.612000 46 130 4.64027e-19 6.38036e-19 0.014410 1 0 FIP1L1 81608 broad.mit.edu 37 4 54294193 54294193 + Splice_Site SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr4:54294193G>T ENST00000337488.6 + 13 1211 c.e13-1 FIP1L1_ENST00000358575.5_Splice_Site|FIP1L1_ENST00000507922.1_Splice_Site|FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Splice_Site NM_030917.3 NP_112179.2 Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 mRNA processing nucleus RNA binding p.?(1) large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) TCTAATTTTAGGTCCTTTCTG 0.348000 T PDGFRA idiopathic hypereosinophilic syndrome 10 37 9.70103e-10 1.17038e-09 0.008291 1 0 ITGA10 8515 broad.mit.edu 37 1 145533105 145533105 + Silent SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:145533105G>A ENST00000369304.3 + 11 1375 c.1200G>A c.(1198-1200)gtG>gtA p.V400V ITGA10_ENST00000539363.1_Silent_p.V257V|ITGA10_ENST00000538811.1_Silent_p.V269V NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 400 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity p.V400V(1) NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GAGGCTCTGTGCTATGGCTTG 0.572000 28 83 0 0 0.010818 0 0 SH3BP5L 80851 broad.mit.edu 37 1 249118957 249118957 + Missense_Mutation SNP T T A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:249118957T>A ENST00000366472.5 - 2 1407 c.178A>T c.(178-180)Ata>Tta p.I60L SH3BP5L_ENST00000475978.1_5'UTR NM_030645.1 NP_085148.1 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like 60 p.I60L(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) CTCACCTGTATTCTAGGATCC 0.552000 71 306 0 0 0.014410 0 0 GLIS3 169792 broad.mit.edu 37 9 3932421 3932421 + Missense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr9:3932421G>A ENST00000324333.10 - 5 1650 c.1457C>T c.(1456-1458)cCa>cTa p.P486L GLIS3_ENST00000381971.3_Missense_Mutation_p.P641L|GLIS3_ENST00000461870.1_5'UTR NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 486 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding p.P641L(1)|p.P486L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) TAGGGAACTTGGGTCTGTGTA 0.378000 51 191 0 0 0.014410 0 0 TBX3 6926 broad.mit.edu 37 12 115120648 115120648 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr12:115120648C>A ENST00000349155.2 - 1 1321 c.358G>T c.(358-360)Ggc>Tgc p.G120C TBX3_ENST00000257566.3_Missense_Mutation_p.G120C NM_005996.3 NP_005987.3 O15119 TBX3_HUMAN T-box 3 120 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding p.G120C(1) breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) ATCTCGGTGCCCCGCTTGTGA 0.542000 11 50 2.27111e-07 2.61352e-07 0.013537 1 0 PCDH10 57575 broad.mit.edu 37 4 134073342 134073342 + Missense_Mutation SNP G G C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr4:134073342G>C ENST00000264360.4 + 1 2873 c.2047G>C c.(2047-2049)Gtg>Ctg p.V683L NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 683 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.V683L(1) NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) GGATGGCGCCGTGGAGCCCCA 0.716000 4 40 0 0 0.001168 0 0 MYO15A 51168 broad.mit.edu 37 17 18022483 18022483 + Silent SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr17:18022483C>T ENST00000205890.5 + 2 707 c.369C>T c.(367-369)cgC>cgT p.R123R NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 123 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity p.R123R(1) breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TGCGGCCGCGCGCCCGGTCAC 0.642000 5 14 0 0 0.001168 0 0 CARKD 55739 broad.mit.edu 37 13 111274657 111274657 + Silent SNP T T A rs142423406 byFrequency TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr13:111274657T>A ENST00000309957.2 + 2 209 c.195T>A c.(193-195)tcT>tcA p.S65S CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000424185.2_Intron|CARKD_ENST00000458711.2_Intron|CARKD_ENST00000397191.4_Silent_p.S47S NM_001242881.1|NM_018210.3 NP_001229810.1|NP_060680.2 Q8IW45 CARKD_HUMAN carbohydrate kinase domain containing 65 YjeF C-terminal. p.S65S(1) NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 15 CTCCTCTGTCTTCCACAAAGC 0.418000 17 70 0 0 0.010504 0 0 TRPM1 4308 broad.mit.edu 37 15 31294908 31294908 + Missense_Mutation SNP T T C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr15:31294908T>C ENST00000542188.1 - 27 4359 c.4046A>G c.(4045-4047)aAg>aGg p.K1349R RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.K1332R|TRPM1_ENST00000397795.2_Missense_Mutation_p.K1310R NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 1310 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity p.K1310R(1) NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TTTCACGTCCTTCTCTTCCTT 0.468000 67 108 0 0 0.014410 0 0 IGHV1-69 28461 broad.mit.edu 37 14 107170344 107170344 + RNA SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr14:107170344G>A ENST00000390633.2 - 0 84 CCACCACAAAGAGGAACCTCC 0.512000 16 81 0 0 0.005443 0 0 PROM2 150696 broad.mit.edu 37 2 95941810 95941810 + Missense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr2:95941810G>A ENST00000317620.9 + 3 560 c.427G>A c.(427-429)Gag>Aag p.E143K PROM2_ENST00000463580.1_Intron|PROM2_ENST00000542147.1_Missense_Mutation_p.E143K|PROM2_ENST00000403131.2_Missense_Mutation_p.E143K|PROM2_ENST00000317668.4_Missense_Mutation_p.E143K NM_001165978.1 NP_001159450.1 Q8N271 PROM2_HUMAN prominin 2 143 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane p.E143K(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 AGTGAAGACAGAGCACAAGGC 0.692000 4 36 0 0 0.001168 0 0 XPO5 57510 broad.mit.edu 37 6 43538674 43538674 + Missense_Mutation SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr6:43538674C>T ENST00000265351.7 - 4 568 c.358G>A c.(358-360)Gta>Ata p.V120I NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 120 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding p.V120I(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) ATTTCCACTACAATTCGAGAC 0.398000 41 75 0 0 0.007835 0 0 RSBN1 54665 broad.mit.edu 37 1 114309076 114309076 + Splice_Site SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:114309076C>T ENST00000261441.5 - 7 1999 c.e7-1 RSBN1_ENST00000369581.2_Splice_Site NM_018364.3 NP_060834.2 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 nucleus p.?(1) breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2) 29 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ACTGTACGCACTGAAGAAAGA 0.343000 24 28 0 0 0.002780 0 0 NOC4L 79050 broad.mit.edu 37 12 132636667 132636667 + Silent SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr12:132636667C>T ENST00000330579.1 + 14 1397 c.1356C>T c.(1354-1356)gcC>gcT p.A452A NOC4L_ENST00000538784.1_Silent_p.A67A NM_024078.1 NP_076983.1 Q9BVI4 NOC4L_HUMAN nucleolar complex associated 4 homolog (S. cerevisiae) 452 rRNA processing integral to membrane|nuclear membrane|nucleolus protein binding p.A453S(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2) 14 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05) TGTCCAAAGCCGCCAGCGTCA 0.687000 15 21 0 0 0.004007 0 0 C16orf90 646174 broad.mit.edu 37 16 3544801 3544801 + Silent SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr16:3544801G>A ENST00000437192.3 - 2 125 c.123C>T c.(121-123)tcC>tcT p.S41S LA16c-306E5.3_ENST00000574423.2_RNA NM_001080524.1 NP_001073993.1 A8MZG2 CP090_HUMAN chromosome 16 open reading frame 90 31 p.S41S(1) large_intestine(1) 1 GCGGCTGCGGGGACCCCAGGC 0.711000 6 31 0 0 0.006214 0 0 HOXA3 3200 broad.mit.edu 37 7 27147988 27147988 + Nonsense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr7:27147988G>T ENST00000396352.4 - 3 1077 c.878C>A c.(877-879)tCg>tAg p.S293* HOXA3_ENST00000317201.2_Nonsense_Mutation_p.S293*|HOXA-AS2_ENST00000518088.1_RNA NM_030661.4 NP_109377.1 O43365 HXA3_HUMAN homeobox A3 293 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S293*(1) breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 GGGCGGGGGCGACTGGGGCTC 0.711000 8 71 0.00829132 0.00856617 0.008291 1 0 WARS2 10352 broad.mit.edu 37 1 119575582 119575582 + Silent SNP T T C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:119575582T>C ENST00000235521.4 - 6 1061 c.1035A>G c.(1033-1035)ttA>ttG p.L345L WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Silent_p.L251L NM_015836.3|NM_201263.2 NP_056651.1|NP_957715.1 Q9UGM6 SYWM_HUMAN tryptophanyl tRNA synthetase 2, mitochondrial 345 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity p.L345L(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2) 15 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) CAGTGTATGCTAATTCTTTGG 0.413000 55 139 0 0 0.014410 0 0 KIF13A 63971 broad.mit.edu 37 6 17817334 17817334 + Missense_Mutation SNP C C G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr6:17817334C>G ENST00000378814.5 - 17 1916 c.1917G>C c.(1915-1917)agG>agC p.R639S KIF13A_ENST00000259711.6_Missense_Mutation_p.R639S|KIF13A_ENST00000503342.1_5'UTR|KIF13A_ENST00000378816.5_Missense_Mutation_p.R639S|KIF13A_ENST00000378826.2_Missense_Mutation_p.R639S|KIF13A_ENST00000378843.2_Missense_Mutation_p.R639S NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 639 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding p.R639S(2) breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TCTGTGGCTGCCTGTCGGGGG 0.597000 4 13 0 0 0.009096 0 0 KLF6 1316 broad.mit.edu 37 10 3821782 3821782 + Splice_Site SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr10:3821782C>T ENST00000497571.1 - 4 1061 c.800_splice c.e4-1 p.R267_splice KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_Splice_Site_p.G226_splice NM_001160124.1|NM_001300.5 NP_001153596.1|NP_001291.3 Q99612 KLF6_HUMAN Kruppel-like factor 6 267 B cell differentiation nucleus zinc ion binding p.R267R(1) breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Colorectal(1;0.238) TGGAAAAACACCTGCAAGGGC 0.577000 10 53 0 0 0.013537 0 0 SPATA31C1 441452 broad.mit.edu 37 9 90534188 90534188 + RNA SNP C C A rs138369848 TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr9:90534188C>A ENST00000602681.1 + 0 934 TGTCTCCCAGCGTCATCTTGT 0.612000 8 106 1.12685e-05 1.25804e-05 0.004482 1 0 THBS2 7058 broad.mit.edu 37 6 169648695 169648695 + Silent SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr6:169648695G>T ENST00000366787.3 - 4 675 c.426C>A c.(424-426)gtC>gtA p.V142V NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 142 Heparin-binding (Potential).|TSP N-terminal. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity p.V142V(1) NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CAGCCAGGCCGACGTCCTCCA 0.637000 28 70 4.3181e-19 5.9593e-19 0.013726 1 0 PCDHGA8 9708 broad.mit.edu 37 5 140773060 140773060 + Missense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr5:140773060G>A ENST00000398604.2 + 1 680 c.680G>A c.(679-681)cGc>cAc p.R227H PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron NM_032088.1 NP_114477.1 p.R227H(1) endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCACAGTGCGCATCCACGTG 0.612000 44 65 0 0 0.010771 0 0 NCAPH2 29781 broad.mit.edu 37 22 50956587 50956587 + Missense_Mutation SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr22:50956587C>T ENST00000395701.3 + 7 620 c.526C>T c.(526-528)Cgg>Tgg p.R176W NCAPH2_ENST00000420993.2_Missense_Mutation_p.R176W|NCAPH2_ENST00000299821.11_Missense_Mutation_p.R176W|NCAPH2_ENST00000395698.3_Missense_Mutation_p.R176W Q6IBW4 CNDH2_HUMAN non-SMC condensin II complex, subunit H2 176 chromosome condensation chromosome|nucleus p.R176W(2) breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1) 24 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.212) CCTGGCCAGCCGGAAGGATTT 0.642000 21 46 0 0 0.012319 0 0 TNFRSF12A 51330 broad.mit.edu 37 16 3071600 3071600 + Missense_Mutation SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr16:3071600C>T ENST00000575124.1 + 2 430 c.407C>T c.(406-408)cCt>cTt p.P136L TNFRSF12A_ENST00000326577.4_Missense_Mutation_p.L82F|TNFRSF12A_ENST00000573001.1_Missense_Mutation_p.L33F|TNFRSF12A_ENST00000341627.5_Missense_Mutation_p.L47F Q9NP84 TNR12_HUMAN tumor necrosis factor receptor superfamily, member 12A 0 angiogenesis|apoptosis integral to membrane receptor activity p.L82F(1) lung(1)|skin(1) 2 TTGGCCCATCCTTGGGGGCGC 0.662000 OREG0023566 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 52 0 0 0.006214 0 0 USP29 57663 broad.mit.edu 37 19 57640928 57640928 + Nonsense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr19:57640928C>A ENST00000254181.4 + 4 1339 c.885C>A c.(883-885)taC>taA p.Y295* USP29_ENST00000598197.1_Nonsense_Mutation_p.Y295* NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 295 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity p.Y295*(1) breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACACCTGTTACATGAATGCAG 0.463000 20 45 0.000175454 0.000188023 0.010504 1 0 EDC4 23644 broad.mit.edu 37 16 67913844 67913844 + Missense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr16:67913844G>A ENST00000358933.5 + 16 2152 c.1913G>A c.(1912-1914)aGc>aAc p.S638N NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 638 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding p.S638N(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) GCCATGAGCAGCACCTCAGCT 0.612000 17 46 0 0 0.006122 0 0 HBE1 3046 broad.mit.edu 37 11 5290732 5290732 + Silent SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:5290732C>T ENST00000380237.1 - 4 611 c.267G>A c.(265-267)ctG>ctA p.L89L HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Silent_p.L89L P02100 HBE_HUMAN hemoglobin, epsilon 1 89 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity p.L89L(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCAGCTCACTCAGCTTAGCAA 0.468000 32 84 0 0 0.003271 0 0 RNF43 54894 broad.mit.edu 37 17 56439904 56439904 + Splice_Site SNP C C G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr17:56439904C>G ENST00000584437.1 - 5 2643 c.e5+1 RNF43_ENST00000577625.1_Splice_Site|RNF43_ENST00000407977.2_Splice_Site|RNF43_ENST00000577716.1_Splice_Site|RNF43_ENST00000583753.1_Splice_Site|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Splice_Site|RNF43_ENST00000500597.2_Splice_Site Q68DV7 RNF43_HUMAN ring finger protein 43 endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding p.?(1) NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) ACACTGCTCACCGGCCTGCTG 0.582000 15 67 0 0 0.004289 0 0 ATP12A 479 broad.mit.edu 37 13 25285542 25285542 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr13:25285542C>A ENST00000218548.6 + 22 3437 c.3104C>A c.(3103-3105)cCt>cAt p.P1035H ATP12A_ENST00000381946.3_Missense_Mutation_p.P1029H NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 1029 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding p.P1029H(1) breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) AGGCTCTACCCTGGAAGTGAG 0.502000 6 24 0.000157383 0.000169142 0.003080 1 0 HELZ2 85441 broad.mit.edu 37 20 62202177 62202177 + Nonsense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr20:62202177G>T ENST00000467148.1 - 2 392 c.323C>A c.(322-324)tCa>tAa p.S108* HELZ2_ENST00000479540.1_5'UTR NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator p.S108*(1) CTCCTGTGCTGAGTGTGCCTT 0.692000 6 22 0.00307968 0.00320836 0.003080 1 0 TRIM40 135644 broad.mit.edu 37 6 30113788 30113788 + Silent SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr6:30113788G>A ENST00000396581.1 + 3 749 c.363G>A c.(361-363)cgG>cgA p.R121R TRIM40_ENST00000307859.4_Silent_p.R121R|TRIM40_ENST00000376724.2_Silent_p.R121R Q6P9F5 TRI40_HUMAN tripartite motif containing 40 121 intracellular zinc ion binding p.R121R(1) ovary(1) 1 TCAATCGCCGGAGCAGGAAGC 0.572000 15 31 0 0 0.006122 0 0 RPS6KB1 6198 broad.mit.edu 37 17 57992021 57992021 + Missense_Mutation SNP G G C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr17:57992021G>C ENST00000225577.4 + 4 359 c.338G>C c.(337-339)gGa>gCa p.G113A RPS6KB1_ENST00000443572.2_Intron|RPS6KB1_ENST00000406116.3_Missense_Mutation_p.G113A|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.G60A NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2 NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1 P23443 KS6B1_HUMAN ribosomal protein S6 kinase, 70kDa, polypeptide 1 113 Protein kinase. apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome ATP binding|protein binding|protein kinase activity p.G113A(1) endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.57e-12)|all cancers(12;6.41e-11) AAAGTAACAGGAGCAAATACT 0.358000 35 109 0 0 0.006999 0 0 CAPN5 726 broad.mit.edu 37 11 76834862 76834862 + Silent SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:76834862G>A ENST00000278559.3 + 13 2058 c.1869G>A c.(1867-1869)ctG>ctA p.L623L CAPN5_ENST00000531028.1_3'UTR|CAPN5_ENST00000456580.2_Silent_p.L663L|CAPN5_ENST00000529629.1_Silent_p.L623L NM_004055.4 NP_004046.2 O15484 CAN5_HUMAN calpain 5 623 proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity p.L623L(1) NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 CCAGCAACCTGCCAGGCACTG 0.622000 28 98 0 0 0.010818 0 0 MANEA 79694 broad.mit.edu 37 6 96034410 96034410 + Missense_Mutation SNP A A G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr6:96034410A>G ENST00000358812.4 + 2 229 c.95A>G c.(94-96)aAt>aGt p.N32S MANEA_ENST00000369293.1_Missense_Mutation_p.N32S NM_024641.3 NP_078917.2 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 32 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity p.N32S(1) breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) CTGAGACCAAATACAGCTACT 0.368000 9 83 0 0 0.004482 0 0 NECAB1 64168 broad.mit.edu 37 8 91962079 91962079 + Missense_Mutation SNP A A G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr8:91962079A>G ENST00000417640.2 + 11 1242 c.905A>G c.(904-906)tAt>tGt p.Y302C NECAB1_ENST00000521366.1_Missense_Mutation_p.Y51C|NECAB1_ENST00000522820.1_Missense_Mutation_p.Y51C NM_022351.4 NP_071746.1 Q8N987 NECA1_HUMAN N-terminal EF-hand calcium binding protein 1 302 ABM. antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity p.Y302C(1) breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 12 BRCA - Breast invasive adenocarcinoma(11;0.0499) TACATGATCTATGAGTTCTGG 0.348000 7 12 0 0 0.004482 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140712593 140712593 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr5:140712593G>T ENST00000517417.1 + 1 2342 c.2342G>T c.(2341-2343)aGc>aTc p.S781I PCDHGA1_ENST00000378105.3_Missense_Mutation_p.S781I NM_018912.2 NP_061735.1 p.S781I(2) breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACACTCATCAGCCAGGAGAGC 0.493000 20 149 1.10513e-12 1.40585e-12 0.014323 1 0 PBRM1 55193 broad.mit.edu 37 3 52651531 52651531 + Missense_Mutation SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr3:52651531C>A ENST00000356770.4 - 13 1471 c.1469G>T c.(1468-1470)cGa>cTa p.R490L PBRM1_ENST00000410007.1_Missense_Mutation_p.R522L|PBRM1_ENST00000409114.3_Missense_Mutation_p.R537L|PBRM1_ENST00000409057.1_Missense_Mutation_p.R522L|PBRM1_ENST00000394830.3_Missense_Mutation_p.R522L|PBRM1_ENST00000409767.1_Missense_Mutation_p.R537L|PBRM1_ENST00000296302.7_Missense_Mutation_p.R522L|PBRM1_ENST00000337303.4_Missense_Mutation_p.R522L Q86U86 PB1_HUMAN polybromo 1 522 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding p.R522L(2)|p.R490L(1) breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) GATTTTCATTCGCTGCTTTCT 0.363000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 26 54 9.39395e-14 1.2115e-13 0.006320 1 0 NCKIPSD 51517 broad.mit.edu 37 3 48719041 48719041 + Silent SNP T T C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr3:48719041T>C ENST00000294129.2 - 5 890 c.771A>G c.(769-771)caA>caG p.Q257Q NCKIPSD_ENST00000341520.4_Silent_p.Q257Q|NCKIPSD_ENST00000416649.2_Silent_p.Q250Q NM_016453.2 NP_057537.1 Q9NZQ3 SPN90_HUMAN NCK interacting protein with SH3 domain 257 Pro-rich. cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction intermediate filament|nucleus cytoskeletal protein binding|SH3 domain binding p.Q257Q(2) endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GGGGCTGGACTTGGGACACGG 0.627000 29 57 0 0 0.013726 0 0 IGLV8-61 28774 broad.mit.edu 37 22 22453478 22453478 + RNA SNP A A G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr22:22453478A>G ENST00000390283.2 + 0 270 ACGCTCATCTACAGCACAAAC 0.582000 68 85 0 0 0.014410 0 0 OR1S2 219958 broad.mit.edu 37 11 57971146 57971146 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:57971146G>T ENST00000302592.6 - 1 507 c.508C>A c.(508-510)Ctt>Att p.L170I NM_001004459.1 NP_001004459.1 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, member 2 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L170I(1) endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) GTGTGTGTAAGAGCAATAATA 0.493000 33 238 2.58029e-29 3.72597e-29 0.009718 1 0 AFF2 2334 broad.mit.edu 37 X 147919249 147919249 + Missense_Mutation SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chrX:147919249C>T ENST00000370460.2 + 5 1644 c.1165C>T c.(1165-1167)Cca>Tca p.P389S AFF2_ENST00000286437.5_Intron|AFF2_ENST00000370458.1_Intron|AFF2_ENST00000342251.3_Intron|AFF2_ENST00000370457.5_Intron NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 389 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding p.P389S(1) breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CTTTTCCATCCCAGGACAGGT 0.433000 21 19 0 0 0.012319 0 0 RP11-407N17.3 0 broad.mit.edu 37 14 39716257 39716257 + Missense_Mutation SNP A A G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr14:39716257A>G ENST00000553728.1 + 4 692 c.479A>G c.(478-480)cAg>cGg p.Q160R MIA2_ENST00000556784.1_Missense_Mutation_p.Q159R|MIA2_ENST00000280082.3_Missense_Mutation_p.Q160R p.Q160R(1) AGTGATTTTCAGATAGAACCT 0.323000 16 47 0 0 0.004990 0 0 OR10A3 26496 broad.mit.edu 37 11 7960723 7960723 + Silent SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:7960723C>T ENST00000360759.3 - 1 418 c.345G>A c.(343-345)ctG>ctA p.L115L NM_001003745.1 NP_001003745.1 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, member 3 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L115L(1) endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCATCGCTCCCAGGAGAAAAC 0.403000 53 89 0 0 0.014410 0 0 AMPH 273 broad.mit.edu 37 7 38514960 38514960 + Silent SNP T T C TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr7:38514960T>C ENST00000356264.2 - 7 776 c.561A>G c.(559-561)ttA>ttG p.L187L AMPH_ENST00000325590.5_Silent_p.L187L|AMPH_ENST00000428293.2_Silent_p.L187L NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 187 BAR. endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane p.L187L(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 ACTCTTCTTGTAAGTCAACGT 0.338000 6 29 0 0 0.001168 0 0 INTS12 57117 broad.mit.edu 37 4 106621161 106621161 + Translation_Start_Site SNP A A G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr4:106621161A>G ENST00000451321.2 - 2 481 c.2T>C c.(1-3)aTg>aCg p.M1T INTS12_ENST00000394735.1_Start_Codon_SNP_p.M1T|INTS12_ENST00000340139.5_Start_Codon_SNP_p.M1T NM_001142471.1 NP_001135943.1 Q96CB8 INT12_HUMAN integrator complex subunit 12 1 snRNA processing integrator complex protein binding|zinc ion binding p.M1T(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(123;5.12e-07) AGTAGCAGCCATTGCAAACGC 0.328000 45 121 0 0 0.014410 0 0 OR10C1 442194 broad.mit.edu 37 6 29408140 29408140 + Silent SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr6:29408140C>T ENST00000444197.2 + 1 1058 c.348C>T c.(346-348)gcC>gcT p.A116A OR11A1_ENST00000377149.1_Intron NM_013941.3 NP_039229.3 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene) 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A116A(1) NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TCCTGGCAGCCATGGCCTATG 0.617000 32 43 0 0 0.003755 0 0 MYO7A 4647 broad.mit.edu 37 11 76900500 76900500 + Silent SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:76900500C>T ENST00000409709.3 + 28 3887 c.3615C>T c.(3613-3615)tcC>tcT p.S1205S MYO7A_ENST00000409619.2_Silent_p.S1194S|MYO7A_ENST00000458637.2_Silent_p.S1205S NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 1205 MyTH4 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity p.S1205S(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TCGCCCCCTCCGAGAAGTTTG 0.622000 8 139 0 0 0.003080 0 0 KCNV2 169522 broad.mit.edu 37 9 2719074 2719074 + Silent SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr9:2719074C>A ENST00000382082.3 + 1 1573 c.1335C>A c.(1333-1335)ccC>ccA p.P445P NM_133497.3 NP_598004.1 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 445 voltage-gated potassium channel complex voltage-gated potassium channel activity p.P445P(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 35 GBM - Glioblastoma multiforme(50;0.0257) CTACCATCCCCCACTCCTGGT 0.607000 20 106 3.62473e-10 4.40146e-10 0.012319 1 0 EPX 8288 broad.mit.edu 37 17 56270748 56270748 + Missense_Mutation SNP C C T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr17:56270748C>T ENST00000225371.5 + 3 297 c.187C>T c.(187-189)Cgc>Tgc p.R63C NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 63 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding p.R63C(1) breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 GCAGCGGCTTCGCAGCGGTTC 0.612000 30 258 0 0 0.013726 0 0 TDRD7 23424 broad.mit.edu 37 9 100190940 100190940 + Missense_Mutation SNP A A T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr9:100190940A>T ENST00000355295.4 + 2 488 c.193A>T c.(193-195)Agt>Tgt p.S65C TDRD7_ENST00000422139.2_Intron NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 65 Lotus/OST-HTH 1. lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding p.S65C(1) endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) GATAGAGACTAGTAGATCTGG 0.463000 19 59 0 0 0.014323 0 0 CSMD1 64478 broad.mit.edu 37 8 2820157 2820157 + Silent SNP C C A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr8:2820157C>A ENST00000602557.1 - 62 10017 c.9462G>T c.(9460-9462)gtG>gtT p.V3154V CSMD1_ENST00000537824.1_Silent_p.V3153V|CSMD1_ENST00000400186.3_Silent_p.V2977V|CSMD1_ENST00000542608.1_Silent_p.V2976V|CSMD1_ENST00000602723.1_Silent_p.V2977V|CSMD1_ENST00000520002.1_Silent_p.V3154V Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3154 Sushi 26. integral to membrane p.V3153V(1)|p.V2882V(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTCCGCAGAACACAGCTATGG 0.458000 12 17 6.31663e-08 7.38256e-08 0.003163 1 0 ARHGEF16 27237 broad.mit.edu 37 1 3390029 3390029 + Missense_Mutation SNP G G A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:3390029G>A ENST00000378378.4 + 8 1653 c.1248G>A c.(1246-1248)atG>atA p.M416I ARHGEF16_ENST00000378373.1_Missense_Mutation_p.M128I|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.M120I|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.M128I NM_014448.3 NP_055263.2 Q5VV41 ARHGG_HUMAN Rho guanine nucleotide exchange factor (GEF) 16 416 DH.|Required for RHOG activation and mediates interaction with EPHA2. activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity p.M128I(1)|p.M120I(1)|p.M416I(1) lung(6)|ovary(1) 7 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) GCCTGCCCATGCTCTCCTTCC 0.662000 18 55 0 0 0.012213 0 0 SPRR4 163778 broad.mit.edu 37 1 152944454 152944454 + Frame_Shift_Del DEL C C - TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:152944454delC ENST00000328051.2 + 2 137 c.88delC c.(88-90)ccfs p.P31fs NM_173080.1 NP_775103.1 Q96PI1 SPRR4_HUMAN small proline-rich protein 4 31 Gln-rich. keratinization|peptide cross-linking cell cortex lung(1)|prostate(1) 2 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TTGTCAGCCACCCCCTGTTAA 0.572 74 165 --- --- --- --- KCTD3 51133 broad.mit.edu 37 1 215781360 215781374 + Splice_Site DEL CTGTGCAGATAATAA CTGTGCAGATAATAA - TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:215781360_215781374delCTGTGCAGATAATAA ENST00000259154.4 + 14 1605_1619 c.1309_splice c.e14-1 p.VCADNN437_splice NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 437 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) CTCTGCTAGTCTGTGCAGATAATAATCATGTCCGG 0.367 7 54 --- --- --- --- OR2T7 81458 broad.mit.edu 37 1 248604559 248604560 + Frame_Shift_Ins INS - - TC rs58223479 by1000genomes TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr1:248604559_248604560insTC ENST00000460972.3 + 1 52_53 c.52_53insTC c.(52-54)cttfs p.L18fs olfactory receptor, family 2, subfamily T, member 7 TTCCCCTGGCTTCTTTGCCCTC 0.515 4 3 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179501461 179501462 + Frame_Shift_Ins INS - - A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr2:179501461_179501462insA ENST00000589042.1 - 225 41216_41217 c.40992_40993insT c.(40990-40995)gggagafs p.R13665fs TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.R12024fs|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.R4792fs|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.R4600fs|TTN_ENST00000359218.5_Frame_Shift_Ins_p.R4725fs|TTN_ENST00000342992.6_Frame_Shift_Ins_p.R11097fs|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12024 Ig-like 93. 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) GGTTTCTCTCCACCACTTCCTG 0.421 24 57 --- --- --- --- CLCN3 1182 broad.mit.edu 37 4 170610353 170610353 + Frame_Shift_Del DEL G G - TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr4:170610353delG ENST00000513761.1 + 5 1137 c.578delG c.(577-579)tgfs p.W193fs CLCN3_ENST00000504131.2_Frame_Shift_Del_p.W176fs|CLCN3_ENST00000347613.4_Frame_Shift_Del_p.W193fs|CLCN3_ENST00000360642.3_Frame_Shift_Del_p.W193fs NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 193 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) TGGAAAACATGGGCAGAATTA 0.363 23 136 --- --- --- --- SLC26A2 1836 broad.mit.edu 37 5 149360432 149360434 + In_Frame_Del DEL ATC ATC - TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr5:149360432_149360434delATC ENST00000286298.4 + 3 1544_1546 c.1276_1278delATC c.(1276-1278)del p.I427del NM_000112.3 NP_000103.2 P50443 S26A2_HUMAN solute carrier family 26 (anion exchanger), member 2 427 integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CTTTTGTAATATCATCCCTTCCT 0.404 13 64 --- --- --- --- OR2V2 285659 broad.mit.edu 37 5 180582227 180582228 + Frame_Shift_Del DEL TG TG - TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr5:180582227_180582228delTG ENST00000328275.1 + 1 285_286 c.285_286delTG c.(283-288)tttgfs p.FV95fs NM_206880.1 NP_996763.1 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, member 2 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCATCTCCTTTGTGGGCTGTGG 0.530 84 175 --- --- --- --- FBXO24 26261 broad.mit.edu 37 7 100190489 100190489 + Frame_Shift_Del DEL T T - TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr7:100190489delT ENST00000241071.6 + 5 964 c.642delT c.(640-642)ggfs p.G214fs PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Frame_Shift_Del_p.G200fs|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000427939.2_Frame_Shift_Del_p.G252fs|FBXO24_ENST00000465843.1_Frame_Shift_Del_p.G200fs|FBXO24_ENST00000468962.1_Frame_Shift_Del_p.G202fs NM_033506.2 NP_277041.1 O75426 FBX24_HUMAN F-box protein 24 214 ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) AAGTGGTGGGTACCACCAGCA 0.552 32 42 --- --- --- --- MUC17 140453 broad.mit.edu 37 7 100675680 100675681 + Frame_Shift_Ins INS - - T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr7:100675680_100675681insT ENST00000306151.4 + 3 1047_1048 c.983_984insT c.(982-984)atafs p.I328fs NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 328 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCAACCTCAACTTATACTGAAG 0.480 38 433 --- --- --- --- IQUB 154865 broad.mit.edu 37 7 123101441 123101441 + Frame_Shift_Del DEL T T - TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr7:123101441delT ENST00000466202.1 - 11 2553 c.1977delA c.(1975-1977)gafs p.E659fs IQUB_ENST00000324698.6_Frame_Shift_Del_p.E659fs Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 659 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 TAGAATCATCTTCATAATCAG 0.363 20 155 --- --- --- --- EXOC4 60412 broad.mit.edu 37 7 133059653 133059654 + Frame_Shift_Ins INS - - G TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr7:133059653_133059654insG ENST00000253861.4 + 7 1108_1109 c.1079_1080insG c.(1078-1080)cggfs p.R360fs EXOC4_ENST00000539845.1_Frame_Shift_Ins_p.R259fs|EXOC4_ENST00000393161.2_Frame_Shift_Ins_p.R360fs NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 360 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) TCTGTGGTCCTGGGATACCTGC 0.431 32 101 --- --- --- --- OR51S1 119692 broad.mit.edu 37 11 4869784 4869784 + Frame_Shift_Del DEL G G - TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr11:4869784delG ENST00000322101.2 - 1 730 c.655delC c.(655-657)tgfs p.L220fs MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AAAATAAGCAGGGGGTCCAAA 0.537 33 120 --- --- --- --- BIN2 51411 broad.mit.edu 37 12 51685752 51685776 + Frame_Shift_Del DEL GCTGCCCTGAAGGGCTCAGGGCTCC GCTGCCCTGAAGGGCTCAGGGCTCC - TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr12:51685752_51685776delGCTGCCCTGAAGGGCTCAGGGCTCC ENST00000267012.4 - 10 1175_1199 c.1114_1138delGGAGCCCTGAGCCCTTCAGGGCAGC c.(1114-1140)ctfs p.GALSPSGQP372fs BIN2_ENST00000452142.2_Frame_Shift_Del_p.GALSPSGQP340fs|BIN2_ENST00000544402.1_Frame_Shift_Del_p.GALSPSGQP346fs|BIN2_ENST00000604560.1_Frame_Shift_Del_p.GALSPSGQP345fs NM_016293.2 NP_057377.2 Q9UBW5 BIN2_HUMAN bridging integrator 2 372 cytoplasm protein binding p.G372R(1) NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 GATGATGAAGGCTGCCCTGAAGGGCTCAGGGCTCCGCCTGGTGAT 0.600 12 83 --- --- --- --- WSCD2 9671 broad.mit.edu 37 12 108603914 108603914 + Frame_Shift_Del DEL G G - TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr12:108603914delG ENST00000332082.4 + 5 1332 c.514delG c.(514-516)ggfs p.G172fs WSCD2_ENST00000549903.1_Frame_Shift_Del_p.G172fs|WSCD2_ENST00000547525.1_Frame_Shift_Del_p.G172fs|WSCD2_ENST00000261400.3_Frame_Shift_Del_p.G172fs Q2TBF2 WSCD2_HUMAN WSC domain containing 2 172 WSC 1. integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 CCTGTATGGCGGGCTGGAGTT 0.647 13 49 --- --- --- --- TNP2 7142 broad.mit.edu 37 16 11362767 11362768 + Frame_Shift_Ins INS - - T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr16:11362767_11362768insT ENST00000312693.3 - 1 421_422 c.352_353insA c.(352-354)ggcfs p.G118fs RMI2_ENST00000572173.1_Intron NM_005425.4 NP_005416.1 Q05952 STP2_HUMAN transition protein 2 (during histone to protamine replacement) 118 cell differentiation|multicellular organismal development|spermatogenesis nucleosome|nucleus DNA binding p.0?(1) large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 CCTCTTGGCCATTTTTTTCTTT 0.550 7 82 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578246 7578247 + Frame_Shift_Ins INS - - A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr17:7578246_7578247insA ENST00000420246.2 - 6 734_735 c.602_603insT c.(601-603)tcgfs p.S201fs TP53_ENST00000455263.2_Frame_Shift_Ins_p.S201fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.S201fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.S201fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Frame_Shift_Ins_p.S201fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.S201fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 201 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. L -> F (in sporadic cancers; somatic mutation).|L -> P (in a sporadic cancer; somatic mutation).|L -> S (in a sporadic cancer; somatic mutation).|LR -> FC (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.L201F(7)|p.?(5)|p.N200fs*4(1)|p.L201P(1)|p.L201S(1)|p.E198fs*7(1)|p.L201fs*46(1)|p.R202fs*9(1)|p.R202fs*8(1)|p.P191fs*6(1)|p.L201*(1)|p.L201_R202>FC(1)|p.G199fs*42(1)|p.R202fs*7(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACTCCACACGCAAATTTCCTTC 0.550 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 21 37 --- --- --- --- DYRK1A 1859 broad.mit.edu 37 21 38884551 38884551 + Frame_Shift_Del DEL C C - TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr21:38884551delC ENST00000339659.3 + 11 3452 c.1982delC c.(1981-1983)tcfs p.S662fs DYRK1A_ENST00000455387.2_Frame_Shift_Del_p.S443fs|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398960.2_Frame_Shift_Del_p.S671fs NM_130436.2 NP_569120.1 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 671 Ser/Thr-rich. nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 ACATCTTCCTCCTCTACTGGT 0.498 28 172 --- --- --- --- MYO18B 84700 broad.mit.edu 37 22 26299684 26299684 + Frame_Shift_Del DEL G G - TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr22:26299684delG ENST00000335473.7 + 31 5284 c.5034delG c.(5032-5034)ctfs p.L1678fs MYO18B_ENST00000536101.1_Frame_Shift_Del_p.L1678fs|MYO18B_ENST00000536204.1_3'UTR|MYO18B_ENST00000407587.2_Frame_Shift_Del_p.L1679fs NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1678 Gln-rich.|Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CACCCTCTCTGGGGGAAAATT 0.537 9 16 --- --- --- --- ELFN2 114794 broad.mit.edu 37 22 37771193 37771193 + Frame_Shift_Del DEL G G - TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chr22:37771193delG ENST00000402918.1 - 3 1167 c.382delC c.(382-384)gcfs p.R128fs ELFN2_ENST00000349653.3_Frame_Shift_Del_p.R128fs|RP1-63G5.5_ENST00000430883.1_RNA NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 128 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) AACTGCAGGCGGCTCATGCCT 0.632 37 100 --- --- --- --- ZNF280C 55609 broad.mit.edu 37 X 129349794 129349795 + Frame_Shift_Ins INS - - T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4797f969-5f4d-4681-9fc5-68f25ba8f4d8 c89000a1-93c2-46b3-82b2-f90361e2fc5e g.chrX:129349794_129349795insT ENST00000370978.4 - 14 1961_1962 c.1808_1809insA c.(1807-1809)aaafs p.K603fs NM_017666.4 NP_060136.1 Q8ND82 Z280C_HUMAN zinc finger protein 280C 603 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 GGCTCATTTTATTTTTTCTGTT 0.322 7 160 --- --- --- ---