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 NALCN 259232 broad.mit.edu 37 13 101735485 101735485 + Silent SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr13:101735485G>T ENST00000251127.6 - 32 3729 c.3648C>A c.(3646-3648)atC>atA p.I1216I NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1216 integral to membrane sodium channel activity|voltage-gated ion channel activity 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) CGAGTAATGCGATTGTCCTCT 0.423000 13 48 3.27435e-08 4.49054e-08 1 1 0 ANKRD20A11P 391267 broad.mit.edu 37 21 15323418 15323418 + RNA SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr21:15323418G>T ENST00000344693.5 - 0 892 NR_027270.1 TTCTTTCTTTGTACTGCTCCT 0.323000 8 58 0.000442599 0.000507035 1 1 0 SPINK5 11005 broad.mit.edu 37 5 147505144 147505144 + Missense_Mutation SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr5:147505144C>T ENST00000359874.3 + 29 2870 c.2797C>T c.(2797-2799)Cgt>Tgt p.R933C SPINK5_ENST00000256084.7_Intron NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 914 Kazal-like 14. 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.R933C(1) 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) ACAACCTGGGCGTTCCTTGGC 0.443000 14 50 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103124708 103124708 + Missense_Mutation SNP C C G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:103124708C>G ENST00000295269.4 + 5 1826 c.1369C>G c.(1369-1371)Cta>Gta p.L457V NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 457 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CACTGCTACTCTAGTAGTTAT 0.313000 10 32 0 0 1 0 0 GPR26 2849 broad.mit.edu 37 10 125426214 125426214 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr10:125426214G>T ENST00000284674.1 + 1 344 c.291G>T c.(289-291)atG>atT p.M97I NM_153442.3 NP_703143.1 Q8NDV2 GPR26_HUMAN G protein-coupled receptor 26 97 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 20 Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226) TGCTCAGCATGGCCGCGCTCA 0.716000 3 5 0.115264 0.117466 1 1 0 IGKV1-8 28942 broad.mit.edu 37 2 89292385 89292385 + RNA SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:89292385C>A ENST00000495489.1 - 0 65 AGGAGCTGAGCGGGGACCCTC 0.562000 17 124 1.02788e-11 1.53702e-11 1 1 0 C10orf71 118461 broad.mit.edu 37 10 50531523 50531523 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr10:50531523G>T ENST00000374144.3 + 3 1221 c.933G>T c.(931-933)ttG>ttT p.L311F C10orf71_ENST00000323868.4_Missense_Mutation_p.L311F Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 311 endometrium(1) 1 ACACGACCTTGCTAAGAGAAC 0.572000 6 56 8.12818e-05 9.70529e-05 1 1 0 OR2L13 284521 broad.mit.edu 37 1 248262679 248262679 + Translation_Start_Site SNP T T C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:248262679T>C ENST00000366478.2 + 3 339 c.2T>C c.(1-3)aTg>aCg p.M1T OR2L13_ENST00000358120.2_Start_Codon_SNP_p.M1T NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) AAAGTTTTCATGGAGAAATGG 0.333000 9 92 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30934862 30934862 + Silent SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr19:30934862G>T ENST00000355537.3 + 2 540 c.393G>T c.(391-393)ccG>ccT p.P131P NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 131 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GCAAGTACCCGTGCCCACTCT 0.627000 7 39 5.18039e-06 6.59572e-06 1 1 0 SPATA31A6 389730 broad.mit.edu 37 9 43627229 43627229 + Silent SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr9:43627229C>A ENST00000332857.6 - 4 1486 c.1458G>T c.(1456-1458)ctG>ctT p.L486L NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 TAGGTGTGGGCAGGAATTGGG 0.537000 88 416 9.35349e-44 1.5271e-43 1 1 0 ENAM 10117 broad.mit.edu 37 4 71509712 71509712 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr4:71509712C>A ENST00000396073.3 + 9 2850 c.2569C>A c.(2569-2571)Cca>Aca p.P857T ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 857 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) ACCAAGTTACCCATCAGGTCA 0.448000 8 85 0.000157383 0.000185612 1 1 0 P4HA2 8974 broad.mit.edu 37 5 131545982 131545982 + Missense_Mutation SNP G G C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr5:131545982G>C ENST00000401867.1 - 7 1272 c.704C>G c.(703-705)tCc>tGc p.S235C P4HA2_ENST00000379100.2_Missense_Mutation_p.S235C|P4HA2_ENST00000379086.1_Missense_Mutation_p.S235C|P4HA2_ENST00000379104.2_Missense_Mutation_p.S235C|P4HA2_ENST00000360568.3_Missense_Mutation_p.S235C|P4HA2_ENST00000166534.4_Missense_Mutation_p.S235C O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha polypeptide II 235 endoplasmic reticulum lumen electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) CTTACCAAGGGAGAGCAGGCG 0.587000 22 107 0 0 1 0 0 CHEK1 1111 broad.mit.edu 37 11 125499162 125499162 + Nonsense_Mutation SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:125499162A>T ENST00000534070.1 + 4 580 c.325A>T c.(325-327)Aga>Tga p.R109* CHEK1_ENST00000544373.1_Nonsense_Mutation_p.R109*|CHEK1_ENST00000427383.2_Nonsense_Mutation_p.R125*|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000438015.1_Nonsense_Mutation_p.R109*|CHEK1_ENST00000524737.1_Nonsense_Mutation_p.R109*|CHEK1_ENST00000428830.2_Nonsense_Mutation_p.R109*|CHEK1_ENST00000278916.3_Nonsense_Mutation_p.R109* NM_001274.5 NP_001265.2 O14757 CHK1_HUMAN checkpoint kinase 1 109 Protein kinase. cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) AGATGCTCAGAGATTCTTCCA 0.358000 Other conserved DNA damage response genes 18 108 0 0 1 0 0 ZP4 57829 broad.mit.edu 37 1 238051808 238051808 + Silent SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:238051808G>T ENST00000366570.4 - 4 561 c.403C>A c.(403-405)Cga>Aga p.R135R RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 135 acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GGAGCATCTCGGGCTAGGTTT 0.453000 13 57 1.5842e-08 2.21696e-08 1 1 0 ZNF337 26152 broad.mit.edu 37 20 25666740 25666740 + Missense_Mutation SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr20:25666740C>T ENST00000376436.1 - 2 585 c.46G>A c.(46-48)Gat>Aat p.D16N ZNF337_ENST00000538750.1_Missense_Mutation_p.D16N|ZNF337_ENST00000481610.1_5'UTR|ZNF337_ENST00000252979.5_Missense_Mutation_p.D16N zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACAGTGACATCCCCAAATGCC 0.547000 16 131 0 0 1 0 0 VEZF1 7716 broad.mit.edu 37 17 56060314 56060314 + Silent SNP T T C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr17:56060314T>C ENST00000584396.1 - 2 535 c.447A>G c.(445-447)ccA>ccG p.P149P VEZF1_ENST00000581208.1_Silent_p.P158P Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 158 cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 ACTGGGTCACTGGCATAGCTG 0.522000 9 57 0 0 1 0 0 TMEFF2 23671 broad.mit.edu 37 2 193059164 193059164 + Silent SNP T T C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:193059164T>C ENST00000409056.3 - 1 86 c.87A>G c.(85-87)ctA>ctG p.L29L TMEFF2_ENST00000392314.1_Silent_p.L29L|TMEFF2_ENST00000272771.5_Silent_p.L29L Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two follistatin-like domains 2 29 extracellular region|integral to membrane breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.0835) CTACGATGAGTAGCATGACGG 0.602000 20 76 0 0 1 0 0 FAM66D 100132923 broad.mit.edu 37 8 11986728 11986728 + RNA SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:11986728C>T ENST00000434078.2 + 0 608 NR_027425.1 GGAAAAGCTGCATCTGGCTGA 0.517000 15 156 0 0 1 0 0 FCHO2 115548 broad.mit.edu 37 5 72311461 72311461 + Silent SNP A A G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr5:72311461A>G ENST00000430046.2 + 7 725 c.609A>G c.(607-609)caA>caG p.Q203Q FCHO2_ENST00000287761.6_Silent_p.Q203Q|FCHO2_ENST00000341845.6_Silent_p.Q203Q|FCHO2_ENST00000512348.1_Intron NM_001146032.1|NM_138782.2 NP_001139504.1|NP_620137.2 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 203 cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 17 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) AGAAATTTCAAGATATTGAAG 0.294000 3 29 0 0 1 0 0 TBL1X 6907 broad.mit.edu 37 X 9656164 9656164 + Silent SNP T T A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chrX:9656164T>A ENST00000217964.7 + 7 1105 c.465T>A c.(463-465)gcT>gcA p.A155A TBL1X_ENST00000424279.1_Silent_p.A104A|TBL1X_ENST00000536365.1_Silent_p.A104A|TBL1X_ENST00000407597.2_Silent_p.A155A|TBL1X_ENST00000380961.1_Silent_p.A104A NM_005647.3 NP_005638.1 O60907 TBL1X_HUMAN transducin (beta)-like 1X-linked 155 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2) 20 Hepatocellular(5;0.000888) AGAAGCTCGCTCAGCAGCAAG 0.667000 4 21 0 0 1 0 0 OR5T3 390154 broad.mit.edu 37 11 56020602 56020602 + Silent SNP A A G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:56020602A>G ENST00000303059.3 + 1 927 c.927A>G c.(925-927)acA>acG p.T309T NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) TATTTTACACAATTGTGATTC 0.348000 19 76 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108776288 108776288 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr3:108776288G>T ENST00000232603.5 - 13 1159 c.1077C>A c.(1075-1077)aaC>aaA p.N359K MORC1_ENST00000483760.1_Missense_Mutation_p.N359K NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 359 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding p.N359N(1) breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 GGTTTTCTACGTTCACTCCAT 0.343000 11 74 0.000978159 0.00110474 1 1 0 AKAP9 10142 broad.mit.edu 37 7 91624937 91624937 + Silent SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr7:91624937G>A ENST00000359028.2 + 8 1014 c.789G>A c.(787-789)ctG>ctA p.L263L AKAP9_ENST00000394564.1_Silent_p.L251L|AKAP9_ENST00000358100.2_Silent_p.L263L|AKAP9_ENST00000356239.3_Silent_p.L251L Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 263 Gln-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GTGAAACTCTGAGAAACAGCA 0.423000 T BRAF papillary thyroid 7 42 0 0 1 0 0 OLA1 29789 broad.mit.edu 37 2 174988355 174988355 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:174988355C>A ENST00000284719.3 - 6 844 c.598G>T c.(598-600)Gtt>Ttt p.V200F OLA1_ENST00000344357.5_Missense_Mutation_p.V42F|OLA1_ENST00000428402.2_Missense_Mutation_p.V200F|OLA1_ENST00000392560.2_5'UTR|OLA1_ENST00000409546.1_Missense_Mutation_p.V220F NM_013341.3 NP_037473.3 Q9NTK5 OLA1_HUMAN Obg-like ATPase 1 200 ATP catabolic process cytoplasm ATP binding|GTP binding|hydrolase activity|protein binding breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 TAGAAGCGAACAGGTTTCTTT 0.313000 4 92 0.014758 0.015333 1 1 0 TTC8 123016 broad.mit.edu 37 14 89307380 89307380 + Splice_Site SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr14:89307380G>A ENST00000338104.6 + 4 351 c.e4-1 TTC8_ENST00000380656.2_Splice_Site|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000345383.5_Splice_Site|TTC8_ENST00000346301.4_Splice_Site|TTC8_ENST00000536576.1_Splice_Site Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 AATCTTCACAGGCCAATCACA 0.438000 9 99 0 0 1 0 0 IMMT 10989 broad.mit.edu 37 2 86371398 86371398 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:86371398G>A ENST00000410111.3 - 15 2657 c.2270C>T c.(2269-2271)cCa>cTa p.P757L IMMT_ENST00000254636.5_Missense_Mutation_p.P658L|IMMT_ENST00000409051.2_Missense_Mutation_p.P710L|IMMT_ENST00000449247.2_Missense_Mutation_p.P746L|IMMT_ENST00000442664.2_Missense_Mutation_p.P756L NM_001100169.1|NM_001100170.1|NM_006839.2 NP_001093639.1|NP_001093640.1|NP_006830.2 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial 757 integral to mitochondrial inner membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 ACCTCACTCTGGCTGCACCTG 0.473000 8 42 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214818923 214818923 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:214818923G>T ENST00000366955.3 + 13 6178 c.6010G>T c.(6010-6012)Gtg>Ttg p.V2004L NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 2100 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TTGCATTCAGGTGGCAGAGGC 0.438000 31 86 1.7881e-09 2.53183e-09 1 1 0 NAP1L3 4675 broad.mit.edu 37 X 92928109 92928109 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chrX:92928109G>T ENST00000373079.3 - 1 458 c.195C>A c.(193-195)agC>agA p.S65R NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 65 Ser-rich. nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 tagtgctgccgctgctgctgc 0.602000 4 29 0.00909568 0.00963781 1 1 0 TIAM1 7074 broad.mit.edu 37 21 32638650 32638650 + Silent SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr21:32638650C>A ENST00000286827.3 - 5 1110 c.639G>T c.(637-639)ggG>ggT p.G213G TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Silent_p.G213G NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 213 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 GCGTTTCCATCCCCCGAGCCT 0.537000 10 81 1.08611e-07 1.47269e-07 1 1 0 GRIN2B 2904 broad.mit.edu 37 12 13906740 13906740 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr12:13906740G>T ENST00000279593.3 - 3 730 c.521C>A c.(520-522)aCc>aAc p.T174N NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 174 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AGGGAAATAGGTGGTGACGAT 0.468000 13 79 3.27435e-08 4.49054e-08 1 1 0 TCN1 6947 broad.mit.edu 37 11 59623483 59623483 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:59623483G>T ENST00000257264.3 - 6 900 c.796C>A c.(796-798)Caa>Aaa p.Q266K TCN1_ENST00000532419.1_Intron NM_001062.3 NP_001053.2 P20061 TCO1_HUMAN transcobalamin I (vitamin B12 binding protein, R binder family) 266 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGAGTTTGTTGGCAATTCCAG 0.473000 15 77 1.3612e-06 1.77548e-06 1 1 0 HYDIN 54768 broad.mit.edu 37 16 70993553 70993553 + Missense_Mutation SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr16:70993553A>T ENST00000393567.2 - 39 6289 c.6139T>A c.(6139-6141)Tca>Aca p.S2047T NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2047 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TGCCTACCTGACAAGGGTGTC 0.537000 4 34 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 56031727 56031727 + Missense_Mutation SNP T T C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr6:56031727T>C ENST00000244728.5 - 7 1652 c.1255A>G c.(1255-1257)Aca>Gca p.T419A COL21A1_ENST00000370819.1_Missense_Mutation_p.T419A|COL21A1_ENST00000535941.1_Missense_Mutation_p.T419A NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 419 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TCACATGCTGTCTCCCGGTTG 0.378000 3 17 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24196851 24196851 + Missense_Mutation SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr16:24196851A>T ENST00000303531.7 + 15 1837 c.1685A>T c.(1684-1686)aAg>aTg p.K562M PRKCB_ENST00000321728.7_Missense_Mutation_p.K562M NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 562 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) GCCTATCCCAAGTCTATGTCC 0.512000 32 61 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41049486 41049486 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr5:41049486G>A ENST00000399564.4 - 14 1847 c.1397C>T c.(1396-1398)gCt>gTt p.A466V MROH2B_ENST00000506092.2_Missense_Mutation_p.A21V NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GGGCTCCAGAGCTTCTGTGTA 0.468000 14 37 0 0 1 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431310 56431310 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:56431310C>A ENST00000302969.2 + 1 173 c.149C>A c.(148-150)aCa>aAa p.T50K NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 ATCCTGATTACAACAGACACT 0.473000 40 251 1.47197e-15 2.27918e-15 1 1 0 FAM21B 55747 broad.mit.edu 37 10 47929868 47929868 + Missense_Mutation SNP C C G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr10:47929868C>G ENST00000358474.5 + 19 1849 c.1849C>G c.(1849-1851)Cct>Gct p.P617A NM_018232.1 NP_060702.1 Q5SNT6 FA21B_HUMAN family with sequence similarity 21, member B 617 retrograde transport, endosome to Golgi early endosome membrane|WASH complex endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 10 GTTTGGCTCTCCTCCCACATC 0.453000 27 62 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 78734957 78734957 + Missense_Mutation SNP G G C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr3:78734957G>C ENST00000436010.2 - 8 2161 c.1164C>G c.(1162-1164)atC>atG p.I388M ROBO1_ENST00000495273.1_Missense_Mutation_p.I391M|ROBO1_ENST00000467549.1_Missense_Mutation_p.I391M|ROBO1_ENST00000464233.1_Missense_Mutation_p.I427M Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 427 Ig-like C2-type 4. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) AAGTCTGGCAGATGTAATAAC 0.393000 7 19 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117128110 117128110 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr6:117128110G>T ENST00000310357.3 - 3 779 c.758C>A c.(757-759)aCc>aAc p.T253N GPRC6A_ENST00000530250.1_Missense_Mutation_p.T253N|GPRC6A_ENST00000368549.3_Missense_Mutation_p.T253N NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 253 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) GACTTCAATGGTATTATCTGA 0.378000 12 71 0.0135373 0.0142498 1 1 0 DTWD1 56986 broad.mit.edu 37 15 49924460 49924460 + Silent SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr15:49924460G>T ENST00000251250.6 + 4 576 c.369G>T c.(367-369)acG>acT p.T123T DTWD1_ENST00000403028.3_Silent_p.T123T|DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000415425.1_Silent_p.T36T|DTWD1_ENST00000558653.1_Silent_p.T123T NM_020234.5 NP_064619.2 Q8N5C7 DTWD1_HUMAN DTW domain containing 1 123 endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all_lung(180;0.0384) all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05) ACATTTACACGTATCCGTGTA 0.323000 13 37 0.00010058 0.000119797 1 1 0 DNAH9 1770 broad.mit.edu 37 17 11671768 11671768 + Splice_Site SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr17:11671768A>T ENST00000262442.3 + 37 7238 c.e37-1 DNAH9_ENST00000454412.2_Splice_Site NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTGTTTTTGCAGCTTGTGGAC 0.512000 9 67 0 0 1 0 0 ADAM12 8038 broad.mit.edu 37 10 127726893 127726893 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr10:127726893G>T ENST00000368679.4 - 20 2584 c.2275C>A c.(2275-2277)Cgt>Agt p.R759S NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 759 cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) TGGAAGCCACGGGGTGGCCGG 0.557000 3 20 0.00024832 0.000288604 1 1 0 ZNF451 26036 broad.mit.edu 37 6 57012847 57012847 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr6:57012847G>T ENST00000370706.4 + 10 2208 c.1964G>T c.(1963-1965)tGc>tTc p.C655F RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.C655F|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.C655F|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 655 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TACCGACATTGCCAAGATGAG 0.388000 14 114 9.31168e-06 1.16396e-05 1 1 0 UCK2 7371 broad.mit.edu 37 1 165877039 165877039 + Missense_Mutation SNP G G C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:165877039G>C ENST00000367879.4 + 7 1068 c.765G>C c.(763-765)gaG>gaC p.E255D UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000479872.1_3'UTR NM_012474.4 NP_036606.2 Q9BZX2 UCK2_HUMAN uridine-cytidine kinase 2 255 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) AGGCATCGGAGTCCAGCAGCA 0.597000 29 78 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240372002 240372002 + Missense_Mutation SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:240372002A>T ENST00000319653.9 + 5 4120 c.3890A>T c.(3889-3891)tAc>tTc p.Y1297F NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1297 FH2. 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 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) AAGCCTCTTTACTGGACCAGG 0.458000 23 74 0 0 1 0 0 TM4SF20 79853 broad.mit.edu 37 2 228228680 228228680 + Silent SNP A A G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:228228680A>G ENST00000304568.3 - 4 487 c.450T>C c.(448-450)tcT>tcC p.S150S NM_024795.3 NP_079071.2 Q53R12 T4S20_HUMAN transmembrane 4 L six family member 20 150 integral to membrane|plasma membrane breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2) 10 Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115) GAGGTGCACAAGAGTCATTGA 0.408000 16 80 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240255983 240255983 + Nonsense_Mutation SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:240255983C>T ENST00000319653.9 + 1 804 c.574C>T c.(574-576)Caa>Taa p.Q192* NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 192 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 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) GGCTACGGAGCAAGAGGATTT 0.602000 12 39 0 0 1 0 0 TRBV7-6 28592 broad.mit.edu 37 7 142139455 142139455 + RNA SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr7:142139455G>A ENST00000390374.3 - 0 214 CTGCCCCAGGGCCTGTCGGTA 0.517000 12 73 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33590570 33590570 + Splice_Site SNP G G C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:33590570G>C ENST00000404816.2 + 31 5064 c.4711_splice c.e31+1 p.D1571_splice LTBP1_ENST00000390003.4_Splice_Site_p.D1246_splice|LTBP1_ENST00000402934.1_Splice_Site_p.D1190_splice|LTBP1_ENST00000354476.3_Splice_Site_p.D1572_splice|LTBP1_ENST00000272273.5_Splice_Site_p.D469_splice|LTBP1_ENST00000407925.1_Splice_Site_p.D1245_splice|LTBP1_ENST00000404525.1_Splice_Site_p.D1192_splice|LTBP1_ENST00000418533.2_Splice_Site_p.D1203_splice Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1571 TB 4. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity p.D1572N(1) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GAAGGATTCAGGTGAGCCCAT 0.542000 5 43 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55135590 55135590 + Silent SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:55135590C>T ENST00000314706.3 + 1 231 c.231C>T c.(229-231)atC>atT p.I77I NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 TAGTGACCATCATGGCCAGCC 0.438000 21 111 0 0 1 0 0 UBXN10 127733 broad.mit.edu 37 1 20517069 20517069 + Silent SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:20517069C>T ENST00000375099.3 + 2 99 c.15C>T c.(13-15)gcC>gcT p.A5A NM_152376.3 NP_689589.1 Q96LJ8 UBX10_HUMAN UBX domain protein 10 5 endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2) 14 CCACAGAAGCCCCTGTGAATA 0.493000 13 133 0 0 1 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179300160 179300160 + Missense_Mutation SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr5:179300160C>T ENST00000356834.3 - 13 2312 c.2275G>A c.(2275-2277)Gca>Aca p.A759T TBC1D9B_ENST00000355235.3_Missense_Mutation_p.A759T NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 759 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCCACCTCTGCAGGGGGGTCA 0.572000 10 46 0 0 1 0 0 TAF3 83860 broad.mit.edu 37 10 8055777 8055777 + Silent SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr10:8055777C>T ENST00000344293.5 + 6 2858 c.2652C>T c.(2650-2652)gaC>gaT p.D884D NM_031923.3 NP_114129.1 Q5VWG9 TAF3_HUMAN TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 884 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2) 40 TTGGGTGTGACGACTGCGATG 0.572000 8 120 0 0 1 0 0 TMEM57 55219 broad.mit.edu 37 1 25824924 25824924 + Silent SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:25824924C>T ENST00000374343.4 + 11 2141 c.1962C>T c.(1960-1962)ccC>ccT p.P654P TMEM57_ENST00000399763.3_Silent_p.P296P|TMEM57_ENST00000399766.3_Silent_p.P427P NM_018202.4 NP_060672.2 Q8N5G2 MACOI_HUMAN transmembrane protein 57 654 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) GACTTGACCCCAATGCCTCTG 0.547000 17 105 0 0 1 0 0 PDE6A 5145 broad.mit.edu 37 5 149264102 149264102 + Missense_Mutation SNP T T C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr5:149264102T>C ENST00000255266.5 - 16 2086 c.1967A>G c.(1966-1968)gAg>gGg p.E656G NM_000440.2 NP_000431.2 P16499 PDE6A_HUMAN phosphodiesterase 6A, cGMP-specific, rod, alpha 656 cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GATGGCATGCTCATGCTGTCG 0.418000 8 69 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149493712 149493712 + RNA SNP G G C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr7:149493712G>C ENST00000378016.2 + 0 6708 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGTGCCCAGGGGTTGGACTCC 0.662000 6 28 0 0 1 0 0 PURG 29942 broad.mit.edu 37 8 30890211 30890211 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:30890211G>T ENST00000475541.1 - 1 1020 c.88C>A c.(88-90)Ctc>Atc p.L30I PURG_ENST00000339382.2_Missense_Mutation_p.L30I NM_013357.2 NP_037489.1 Q9UJV8 PURG_HUMAN purine-rich element binding protein G 30 nucleus DNA binding endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) TGGGGATAGAGTCTACTCTTG 0.662000 4 10 0.00024832 0.000288604 1 1 0 NLRP4 147945 broad.mit.edu 37 19 56369395 56369395 + Silent SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr19:56369395C>T ENST00000301295.6 + 3 1058 c.636C>T c.(634-636)ccC>ccT p.P212P NLRP4_ENST00000346986.5_Silent_p.P212P|NLRP4_ENST00000587891.1_Silent_p.P137P NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 212 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GGCCTGACCCCGCTGCTCCTA 0.542000 22 89 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48346775 48346775 + Missense_Mutation SNP G G T rs139115763 TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:48346775G>T ENST00000319856.4 + 1 304 c.283G>T c.(283-285)Gac>Tac p.D95Y NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 ATCCTTTATTGACACCTTTTA 0.478000 7 144 4.68919e-08 6.37623e-08 1 1 0 COL3A1 1281 broad.mit.edu 37 2 189872836 189872836 + Missense_Mutation SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:189872836C>T ENST00000304636.3 + 47 3663 c.3493C>T c.(3493-3495)Cct>Tct p.P1165S COL3A1_ENST00000317840.5_Missense_Mutation_p.P862S NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1165 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) ACCACCAGGGCCTCGAGGTAA 0.463000 3 23 0 0 1 0 0 ARSG 22901 broad.mit.edu 37 17 66352911 66352911 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr17:66352911G>A ENST00000448504.2 + 6 1466 c.670G>A c.(670-672)Gct>Act p.A224T ARSG_ENST00000452479.2_Missense_Mutation_p.A60T|ARSG_ENST00000582154.1_3'UTR NM_014960.4 NP_055775.2 Q96EG1 ARSG_HUMAN arylsulfatase G 224 sulfur compound metabolic process endoplasmic reticulum|extracellular space|lysosome arylsulfatase activity|metal ion binding NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 26 BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) CCAGAAGTATGCTGAGAAAGC 0.567000 10 53 0 0 1 0 0 AGL 178 broad.mit.edu 37 1 100327973 100327973 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:100327973G>A ENST00000294724.4 + 4 932 c.454G>A c.(454-456)Gaa>Aaa p.E152K AGL_ENST00000361302.3_Missense_Mutation_p.E136K|AGL_ENST00000370165.3_Missense_Mutation_p.E152K|AGL_ENST00000361522.4_Missense_Mutation_p.E135K|AGL_ENST00000361915.3_Missense_Mutation_p.E152K|AGL_ENST00000370163.3_Missense_Mutation_p.E152K|AGL_ENST00000370161.2_Missense_Mutation_p.E136K NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 152 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding p.E152*(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) GGTTGCAAAAGAATCAGGTAA 0.328000 19 123 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 78667116 78667116 + Silent SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr3:78667116G>A ENST00000436010.2 - 25 4831 c.3834C>T c.(3832-3834)ccC>ccT p.P1278P ROBO1_ENST00000495273.1_Silent_p.P1272P|ROBO1_ENST00000467549.1_Silent_p.P1217P|ROBO1_ENST00000464233.1_Silent_p.P1317P Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1317 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) CTGAGACCAGGGGTCCTGAAA 0.527000 5 54 0 0 1 0 0 DTX3 196403 broad.mit.edu 37 12 58001202 58001202 + Nonsense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr12:58001202G>T ENST00000548198.1 + 3 2060 c.556G>T c.(556-558)Gag>Tag p.E186* DTX3_ENST00000337737.3_Nonsense_Mutation_p.E186*|DTX3_ENST00000551632.1_Nonsense_Mutation_p.E189*|DTX3_ENST00000548804.1_Nonsense_Mutation_p.E186* Q8N9I9 DTX3_HUMAN deltex homolog 3 (Drosophila) 186 Notch signaling pathway cytoplasm zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1) 12 Melanoma(17;0.122) TTCATTCTGCGAGGGCTGCAT 0.617000 5 23 0.014758 0.015333 1 1 0 CAPZA1 829 broad.mit.edu 37 1 113197232 113197232 + Missense_Mutation SNP A A G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:113197232A>G ENST00000263168.3 + 5 1037 c.365A>G c.(364-366)gAa>gGa p.E122G CAPZA1_ENST00000476936.1_Intron NM_006135.2 NP_006126.1 P52907 CAZA1_HUMAN capping protein (actin filament) muscle Z-line, alpha 1 122 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly cytosol|extracellular region|F-actin capping protein complex|WASH complex actin binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1) 9 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCTTGGAGAGAATCCTGTGAC 0.423000 28 149 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139603681 139603681 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:139603681G>T ENST00000303045.6 - 64 5125 c.4679C>A c.(4678-4680)cCc>cAc p.P1560H COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1540H NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1560 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GATTCCAGGGGGTCCCATCTC 0.607000 HNSCC(7;0.00092) 4 27 0.184627 0.186964 1 1 0 WFDC1 58189 broad.mit.edu 37 16 84353038 84353038 + Splice_Site SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr16:84353038A>T ENST00000219454.5 + 4 749 c.421_splice c.e4-1 p.A141_splice WFDC1_ENST00000568638.1_Splice_Site_p.A141_splice Q9HC57 WFDC1_HUMAN WAP four-disulfide core domain 1 141 negative regulation of cell growth extracellular space serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1) 9 CTCCTGCAGCAGAGGCGTGCA 0.647000 8 35 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2910088 2910088 + Missense_Mutation SNP T T A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:2910088T>A ENST00000602557.1 - 51 8114 c.7559A>T c.(7558-7560)tAt>tTt p.Y2520F CSMD1_ENST00000400186.3_Missense_Mutation_p.Y2520F|CSMD1_ENST00000542608.1_Missense_Mutation_p.Y2519F|CSMD1_ENST00000537824.1_Missense_Mutation_p.Y2519F|CSMD1_ENST00000602723.1_Missense_Mutation_p.Y2520F|CSMD1_ENST00000520002.1_Missense_Mutation_p.Y2520F Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2520 Sushi 15. integral to membrane 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) ATGACATTCATAGACCACTTT 0.488000 5 8 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149594 34149594 + Missense_Mutation SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chrX:34149594C>T ENST00000346193.3 - 1 853 c.802G>A c.(802-804)Gat>Aat p.D268N NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 268 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 CTCTCAGAATCCAGTTTCAGC 0.587000 10 45 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117314753 117314753 + Silent SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:117314753A>T ENST00000321322.6 - 21 3892 c.3891T>A c.(3889-3891)gcT>gcA p.A1297A DSCAML1_ENST00000527706.1_Silent_p.A1027A NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1237 Ig-like C2-type 10. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) ACTCGCTGGGAGCCTGCGGGG 0.632000 4 27 0 0 1 0 0 FYB 2533 broad.mit.edu 37 5 39202591 39202591 + Missense_Mutation SNP T T G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr5:39202591T>G ENST00000351578.6 - 2 662 c.472A>C c.(472-474)Act>Cct p.T158P FYB_ENST00000505428.1_Missense_Mutation_p.T158P|FYB_ENST00000540520.1_Missense_Mutation_p.T168P|FYB_ENST00000512982.1_Missense_Mutation_p.T158P|FYB_ENST00000515010.1_Missense_Mutation_p.T158P NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 158 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) GTTGGAGGAGTAGGCCCAGAT 0.463000 20 116 0 0 1 0 0 ZNF451 26036 broad.mit.edu 37 6 56989601 56989601 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr6:56989601G>T ENST00000370706.4 + 4 500 c.256G>T c.(256-258)Gcc>Tcc p.A86S RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.A86S|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.A86S|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000370711.5_3'UTR|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 86 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) GGCTCGTCTAGCCCGCCATGT 0.303000 5 27 0.217242 0.219529 1 1 0 IL23R 149233 broad.mit.edu 37 1 67685376 67685376 + Silent SNP T T C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:67685376T>C ENST00000347310.5 + 7 1089 c.918T>C c.(916-918)ccT>ccC p.P306P IL23R_ENST00000371002.1_Silent_p.P306P|IL23R_ENST00000395227.1_Silent_p.P51P|IL23R_ENST00000473881.1_3'UTR|C1orf141_ENST00000371007.2_Intron NM_144701.2 NP_653302.2 Q5VWK5 IL23R_HUMAN interleukin 23 receptor 306 Fibronectin type-III 2. inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 21 ACTGGCAGCCTTGGAGTTCAC 0.358000 12 84 0 0 1 0 0 OR4B1 119765 broad.mit.edu 37 11 48238820 48238820 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:48238820C>A ENST00000309562.2 + 1 477 c.459C>A c.(457-459)caC>caA p.H153Q NM_001005470.1 NP_001005470.1 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, member 1 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 GCTTTTGTCACTCCATAATTC 0.468000 10 91 2.17888e-05 2.67484e-05 1 1 0 ZMYM1 79830 broad.mit.edu 37 1 35580573 35580573 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:35580573G>A ENST00000373330.1 + 11 3316 c.3142G>A c.(3142-3144)Gtc>Atc p.V1048I ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.V1048I Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM-type 1 1048 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CATAAACTTCGTCAGTCTCGG 0.348000 33 138 0 0 1 0 0 OR10G7 390265 broad.mit.edu 37 11 123908878 123908878 + Silent SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:123908878C>A ENST00000330487.5 - 1 839 c.831G>T c.(829-831)acG>acT p.T277T NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) GAGGAGTCAGCGTGGTGTAGA 0.502000 11 69 0.00829132 0.00886377 1 1 0 HNF4G 3174 broad.mit.edu 37 8 76456116 76456116 + Silent SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:76456116G>T ENST00000396423.2 + 2 283 c.159G>T c.(157-159)ggG>ggT p.G53G HNF4G_ENST00000354370.1_Silent_p.G16G NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 16 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) CTATCTGTGGGGACAGAGCAA 0.458000 18 72 2.48551e-13 3.78744e-13 1 1 0 OR4D9 390199 broad.mit.edu 37 11 59282831 59282831 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:59282831G>T ENST00000329328.3 + 1 446 c.446G>T c.(445-447)tGg>tTg p.W149L NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 149 ASWVGGF -> GFLGGGL (in Ref. 2; AC019093). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 GTGGCTTCCTGGGTGGGGGGC 0.537000 24 96 2.89027e-11 4.2687e-11 1 1 0 LIPA 3988 broad.mit.edu 37 10 90987961 90987961 + Missense_Mutation SNP A A C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr10:90987961A>C ENST00000336233.5 - 4 746 c.424T>G c.(424-426)Ttc>Gtc p.F142V LIPA_ENST00000371837.1_Missense_Mutation_p.F86V|LIPA_ENST00000456827.1_Missense_Mutation_p.F142V P38571 LICH_HUMAN lipase A, lysosomal acid, cholesterol esterase 142 lipid catabolic process lysosome lipase activity|sterol esterase activity endometrium(1)|large_intestine(2)|lung(3) 6 Colorectal(252;0.0162) GBM - Glioblastoma multiforme(2;0.00406) ATATACCTGAAAGCCCAGAAT 0.433000 15 84 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223284336 223284336 + Nonsense_Mutation SNP T T A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:223284336T>A ENST00000540964.1 - 4 2499 c.2038A>T c.(2038-2040)Aag>Tag p.K680* TLR5_ENST00000342210.6_Nonsense_Mutation_p.K680* O60602 TLR5_HUMAN toll-like receptor 5 680 Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) GGATGGTCCTTGAACACCAGT 0.468000 25 59 0 0 1 0 0 CYLC1 1538 broad.mit.edu 37 X 83128822 83128822 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chrX:83128822C>A ENST00000329312.4 + 4 1143 c.1106C>A c.(1105-1107)tCt>tAt p.S369Y NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 369 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 TACCCAGAGTCTACTGATACT 0.338000 3 27 0.004672 0.00505081 1 1 0 ADCK4 79934 broad.mit.edu 37 19 41216037 41216037 + Silent SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr19:41216037C>A ENST00000324464.3 - 5 595 c.294G>T c.(292-294)ctG>ctT p.L98L ADCK4_ENST00000450541.1_Silent_p.L98L|ADCK4_ENST00000243583.6_Silent_p.L98L NM_024876.3 NP_079152.3 Q96D53 ADCK4_HUMAN aarF domain containing kinase 4 98 integral to membrane protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1) 17 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) AGCCCACAGCCAGTCCTGGAG 0.567000 12 58 0.00185496 0.00208033 1 1 0 RAB30 27314 broad.mit.edu 37 11 82693306 82693306 + Silent SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:82693306G>A ENST00000533486.1 - 6 797 c.513C>T c.(511-513)atC>atT p.I171I RAB30_ENST00000260056.2_Silent_p.I171I|RAB30_ENST00000534141.1_3'UTR|RAB30_ENST00000527633.1_Silent_p.I171I|RP11-659G9.3_ENST00000527550.1_RNA NM_014488.3 NP_055303.2 Q15771 RAB30_HUMAN RAB30, member RAS oncogene family 171 protein transport|small GTPase mediated signal transduction Golgi stack|plasma membrane GTP binding|GTPase activity endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 TGGCTTCACTGATGAGTCGGC 0.418000 16 94 0 0 1 0 0 SERPINA12 145264 broad.mit.edu 37 14 94964383 94964383 + Missense_Mutation SNP A A G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr14:94964383A>G ENST00000341228.2 - 3 1147 c.352T>C c.(352-354)Tac>Cac p.Y118H SERPINA12_ENST00000556881.1_Missense_Mutation_p.Y118H NM_173850.2 NP_776249.1 Q8IW75 SPA12_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 118 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(157;0.235) TGGATGATGTAATGGAAGCCC 0.522000 30 87 0 0 1 0 0 OR6F1 343169 broad.mit.edu 37 1 247875566 247875566 + Missense_Mutation SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:247875566A>T ENST00000302084.2 - 1 539 c.492T>A c.(490-492)agT>agA p.S164R RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 164 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AGGACAGGCCACTGATGAGGG 0.602000 13 88 0 0 1 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68131671 68131671 + Missense_Mutation SNP T T C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:68131671T>C ENST00000262215.3 - 30 4722 c.4333A>G c.(4333-4335)Aca>Gca p.T1445A ARFGEF1_ENST00000520381.1_Missense_Mutation_p.T899A|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.T283A NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 1445 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) CTTACCTCTGTCTGTTGTTCT 0.303000 3 20 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50699553 50699553 + Missense_Mutation SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:50699553C>T ENST00000404971.1 - 17 4586 c.3247G>A c.(3247-3249)Gta>Ata p.V1083I NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.V1035I|NRXN1_ENST00000401710.1_Missense_Mutation_p.V52I|NRXN1_ENST00000406859.3_Missense_Mutation_p.V1043I|NRXN1_ENST00000406316.2_Missense_Mutation_p.V1043I|NRXN1_ENST00000405472.3_Missense_Mutation_p.V1035I|NRXN1_ENST00000401669.2_Missense_Mutation_p.V1043I NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1043 EGF-like 3. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TTGGCATGTACAAGTTTTGGT 0.413000 4 31 0 0 1 0 0 NXF1 10482 broad.mit.edu 37 11 62568824 62568824 + Missense_Mutation SNP T T A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:62568824T>A ENST00000531709.2 - 8 888 c.775A>T c.(775-777)Atc>Ttc p.I259F NXF1_ENST00000531131.1_5'UTR|NXF1_ENST00000532297.1_Missense_Mutation_p.I259F|NXF1_ENST00000439713.2_Missense_Mutation_p.I259F|NXF1_ENST00000294172.2_Missense_Mutation_p.I259F NM_001081491.1 NP_001074960.1 Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 259 Interaction with THOC4. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCTTCAATGATCCTCAGGGTA 0.512000 7 36 0 0 1 0 0 SIN3A 25942 broad.mit.edu 37 15 75702199 75702199 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr15:75702199G>A ENST00000394947.3 - 8 1609 c.1295C>T c.(1294-1296)aCa>aTa p.T432I SIN3A_ENST00000394949.4_Missense_Mutation_p.T432I|SIN3A_ENST00000360439.4_Missense_Mutation_p.T432I NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 432 Interaction with REST (By similarity). blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 GGTGGTTCCTGTAGGATGTCT 0.512000 25 130 0 0 1 0 0 HPS5 11234 broad.mit.edu 37 11 18330573 18330573 + Silent SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:18330573G>A ENST00000396253.3 - 5 651 c.189C>T c.(187-189)tcC>tcT p.S63S HPS5_ENST00000438420.2_Silent_p.S63S|HPS5_ENST00000531848.1_Silent_p.S63S|HPS5_ENST00000349215.3_Silent_p.S177S NM_007216.3 NP_009147.3 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 177 cytosol breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 GTACAACACAGGAGTCAACAG 0.363000 Hermansky-Pudlak syndrome 5 54 0 0 1 0 0 KCNJ1 3758 broad.mit.edu 37 11 128710111 128710111 + Missense_Mutation SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:128710111C>T ENST00000392665.2 - 2 172 c.28G>A c.(28-30)Gtc>Atc p.V10I KCNJ1_ENST00000392664.2_Missense_Mutation_p.V29I|KCNJ1_ENST00000324036.3_Missense_Mutation_p.V10I|KCNJ1_ENST00000392666.1_Missense_Mutation_p.V10I|KCNJ1_ENST00000440599.2_Missense_Mutation_p.V10I NM_153764.2 NP_722448.1 P48048 IRK1_HUMAN potassium inwardly-rectifying channel, subfamily J, member 1 29 excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1) 23 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) AAGCGAGTGACGACCCATTTC 0.408000 7 117 0 0 1 0 0 CTAGE5 4253 broad.mit.edu 37 14 39763269 39763269 + Silent SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr14:39763269A>T ENST00000553728.1 + 11 2379 c.2166A>T c.(2164-2166)gtA>gtT p.V722V CTAGE5_ENST00000557038.1_Silent_p.V107V|CTAGE5_ENST00000341749.3_Silent_p.V175V|CTAGE5_ENST00000348007.3_Silent_p.V187V|CTAGE5_ENST00000280083.3_Silent_p.V187V|CTAGE5_ENST00000396165.4_Silent_p.V158V|CTAGE5_ENST00000341502.5_Silent_p.V187V|CTAGE5_ENST00000396158.2_Silent_p.V192V|RP11-407N17.3_ENST00000603904.1_Silent_p.V158V|CTAGE5_ENST00000553352.1_Silent_p.V158V|CTAGE5_ENST00000556148.1_Silent_p.V112V AATCACAAGTAGCTGAAGTAA 0.299000 17 103 0 0 1 0 0 GUCY2F 2986 broad.mit.edu 37 X 108636226 108636226 + Nonsense_Mutation SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chrX:108636226A>T ENST00000218006.2 - 13 2774 c.2483T>A c.(2482-2484)tTg>tAg p.L828* NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 828 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 ATATTGCTCCAACATCCGAAG 0.358000 23 133 0 0 1 0 0 B3GAT3 26229 broad.mit.edu 37 11 62389348 62389348 + Silent SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:62389348C>A ENST00000531383.1 - 1 278 c.72G>T c.(70-72)ctG>ctT p.L24L B3GAT3_ENST00000265471.5_Silent_p.L24L|B3GAT3_ENST00000534026.1_Silent_p.L24L O94766 B3GA3_HUMAN beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) 24 glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1) 12 CGAGCTGTACCAGCGCGTAGA 0.731000 11 25 0.00829132 0.00886377 1 1 0 SYNE2 23224 broad.mit.edu 37 14 64491694 64491694 + Missense_Mutation SNP A A G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr14:64491694A>G ENST00000358025.3 + 40 6135 c.5905A>G c.(5905-5907)Atg>Gtg p.M1969V SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.M1969V|SYNE2_ENST00000554584.1_Missense_Mutation_p.M1969V NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1969 M -> T (in dbSNP:rs4902264). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ATGGAAAGGAATGGAAGAACC 0.373000 11 67 0 0 1 0 0 PHF20L1 51105 broad.mit.edu 37 8 133816219 133816219 + Nonsense_Mutation SNP T T A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:133816219T>A ENST00000395386.2 + 7 962 c.663T>A c.(661-663)tgT>tgA p.C221* PHF20L1_ENST00000395379.1_Nonsense_Mutation_p.C221*|PHF20L1_ENST00000395382.3_Nonsense_Mutation_p.C91*|PHF20L1_ENST00000395374.1_Nonsense_Mutation_p.C60*|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Nonsense_Mutation_p.C195*|PHF20L1_ENST00000315808.10_Nonsense_Mutation_p.C221*|PHF20L1_ENST00000395383.1_Nonsense_Mutation_p.C225*|PHF20L1_ENST00000337920.4_Nonsense_Mutation_p.C195*|PHF20L1_ENST00000395376.1_Nonsense_Mutation_p.C225* NM_016018.4 NP_057102.4 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 221 nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2) 15 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) CTTCAACTTGTATAGCCACAC 0.383000 6 51 0 0 1 0 0 MAP3K15 389840 broad.mit.edu 37 X 19389509 19389509 + Nonsense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chrX:19389509G>T ENST00000338883.4 - 23 3247 c.3248C>A c.(3247-3249)tCg>tAg p.S1083* MAP3K15_ENST00000359173.3_Nonsense_Mutation_p.S518*|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Nonsense_Mutation_p.S915* NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 1083 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) ACTGATGGACGAGCTGTCAAA 0.527000 12 103 0.000978159 0.00110474 1 1 0 NTRK2 4915 broad.mit.edu 37 9 87482253 87482253 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr9:87482253C>A ENST00000304053.6 + 14 2023 c.1540C>A c.(1540-1542)Cca>Aca p.P514T NTRK2_ENST00000376213.1_Missense_Mutation_p.P498T|NTRK2_ENST00000323115.4_Missense_Mutation_p.P498T|NTRK2_ENST00000376214.1_Missense_Mutation_p.P514T|NTRK2_ENST00000376208.1_Missense_Mutation_p.P498T|NTRK2_ENST00000277120.3_Missense_Mutation_p.P514T NM_001018065.2 NP_001018075.1 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 498 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 GGAAGGTGGCCCAGATGCTGT 0.493000 TSP Lung(25;0.17) 16 100 0.00316338 0.00347465 1 1 0 ANK3 288 broad.mit.edu 37 10 61840373 61840373 + Nonsense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr10:61840373C>A ENST00000280772.1 - 36 4545 c.4354G>T c.(4354-4356)Gag>Tag p.E1452* ANK3_ENST00000503366.1_Nonsense_Mutation_p.E1444*|ANK3_ENST00000355288.2_Nonsense_Mutation_p.E577*|ANK3_ENST00000373827.2_Nonsense_Mutation_p.E1437* NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1452 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TCTGTTTTCTCAATCTGAAAA 0.383000 3 25 0.004672 0.00505081 1 1 0 TP53 7157 broad.mit.edu 37 17 7577099 7577099 + Missense_Mutation SNP C C A rs121912660 TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr17:7577099C>A ENST00000420246.2 - 8 971 c.839G>T c.(838-840)aGa>aTa p.R280I TP53_ENST00000359597.4_Missense_Mutation_p.R280I|TP53_ENST00000269305.4_Missense_Mutation_p.R280I|TP53_ENST00000445888.2_Missense_Mutation_p.R280I|TP53_ENST00000455263.2_Missense_Mutation_p.R280I|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 280 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; 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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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) GCGCCGGTCTCTCCCAGGACA 0.542000 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) 10 31 0.00621372 0.00668741 1 1 0 FATE1 89885 broad.mit.edu 37 X 150889973 150889973 + Splice_Site SNP G G T rs149441058 TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chrX:150889973G>T ENST00000370350.3 + 3 426 c.341_splice c.e3+1 p.R114_splice NM_033085.2 NP_149076.1 Q969F0 FATE1_HUMAN fetal and adult testis expressed 1 114 endoplasmic reticulum|integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1) 15 Acute lymphoblastic leukemia(192;6.56e-05) CATTATGATCGGTAAGAGCTG 0.602000 8 45 0.000274275 0.000318 1 1 0 OR9A2 135924 broad.mit.edu 37 7 142723821 142723821 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr7:142723821G>T ENST00000350513.2 - 1 461 c.399C>A c.(397-399)aaC>aaA p.N133K NM_001001658.1 NP_001001658.1 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, member 2 133 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) AGGTACTGCTGTTCATAATGA 0.438000 9 74 2.17888e-05 2.67484e-05 1 1 0 CD2 914 broad.mit.edu 37 1 117311298 117311298 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:117311298G>A ENST00000369478.3 + 5 1057 c.949G>A c.(949-951)Ggc>Agc p.G317S NM_001767.3 NP_001758.2 P06729 CD2_HUMAN CD2 molecule 317 Pro-rich. blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) TGCTCCGTCGGGCACACAAGT 0.617000 14 150 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81648674 81648674 + Silent SNP C C T rs80307006 TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr12:81648674C>T ENST00000548058.1 + 16 2944 c.2034C>T c.(2032-2034)caC>caT p.H678H ACSS3_ENST00000548324.1_Silent_p.H360H|ACSS3_ENST00000261206.3_Silent_p.H677H Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 678 mitochondrion acetate-CoA ligase activity|ATP binding 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 TTTTTGGCCACGTAGAAGAAA 0.308000 14 60 0 0 1 0 0 TMEM168 64418 broad.mit.edu 37 7 112415280 112415280 + Nonsense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr7:112415280C>A ENST00000312814.5 - 3 1782 c.1222G>T c.(1222-1224)Gga>Tga p.G408* TMEM168_ENST00000454074.1_Nonsense_Mutation_p.G408*|TMEM168_ENST00000480969.1_5'UTR NM_022484.4 NP_071929.3 Q9H0V1 TM168_HUMAN transmembrane protein 168 408 integral to membrane|transport vesicle breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1) 32 GATGTTCCTCCTAAACAGTTA 0.378000 9 60 3.86212e-05 4.65783e-05 1 1 0 OR6K2 81448 broad.mit.edu 37 1 158669490 158669490 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:158669490C>A ENST00000359610.2 - 1 996 c.953G>T c.(952-954)gGg>gTg p.G318V NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 318 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) ACTTGAGGTCCCTGGTCTTAC 0.363000 20 62 5.35267e-07 7.03912e-07 1 1 0 AKAP3 10566 broad.mit.edu 37 12 4736530 4736530 + Missense_Mutation SNP G G C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr12:4736530G>C ENST00000545990.2 - 5 2062 c.1538C>G c.(1537-1539)cCt>cGt p.P513R AKAP3_ENST00000228850.1_Missense_Mutation_p.P513R NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 513 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 AAAATTCTCAGGTTTCTCTGG 0.498000 6 33 0 0 1 0 0 SIN3A 25942 broad.mit.edu 37 15 75682080 75682080 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr15:75682080C>A ENST00000394947.3 - 16 3248 c.2934G>T c.(2932-2934)caG>caT p.Q978H SIN3A_ENST00000394949.4_Missense_Mutation_p.Q978H|SIN3A_ENST00000360439.4_Missense_Mutation_p.Q978H NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 978 blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 AATCTTCATACTGTGATGAGT 0.473000 20 109 7.33628e-21 1.1699e-20 1 1 0 NEU4 129807 broad.mit.edu 37 2 242758329 242758329 + Silent SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:242758329G>T ENST00000391969.2 + 5 2121 c.1410G>T c.(1408-1410)ccG>ccT p.P470P NEU4_ENST00000404257.1_Silent_p.P482P|NEU4_ENST00000407683.1_Silent_p.P470P|NEU4_ENST00000405370.1_Silent_p.P470P|NEU4_ENST00000325935.6_Silent_p.P483P NM_001167602.1 NP_001161074.1 Q8WWR8 NEUR4_HUMAN sialidase 4 470 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding breast(1)|lung(10)|prostate(2)|skin(2) 15 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) GCCCCAAGCCGCCCAACCTTG 0.647000 3 10 0.150653 0.153207 1 1 0 THAP4 51078 broad.mit.edu 37 2 242573004 242573004 + Missense_Mutation SNP C C T rs141722414 TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:242573004C>T ENST00000407315.1 - 2 999 c.568G>A c.(568-570)Gca>Aca p.A190T NM_015963.5 NP_057047.4 Q8WY91 THAP4_HUMAN THAP domain containing 4 190 DNA binding|metal ion binding kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 9 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844) GACGCTTCTGCTTTTCCCTGA 0.612000 15 80 0 0 1 0 0 VRTN 55237 broad.mit.edu 37 14 74823781 74823781 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr14:74823781G>T ENST00000256362.4 + 2 536 c.295G>T c.(295-297)Ggc>Tgc p.G99C NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 99 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 GGGTGACGCAGGCCTCAGCCT 0.632000 11 21 4.68919e-08 6.37623e-08 1 1 0 ACAN 176 broad.mit.edu 37 15 89382207 89382207 + Silent SNP T T A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr15:89382207T>A ENST00000439576.2 + 3 758 c.384T>A c.(382-384)tcT>tcA p.S128S ACAN_ENST00000561243.1_Silent_p.S128S|ACAN_ENST00000352105.7_Silent_p.S128S|ACAN_ENST00000558207.1_Silent_p.S128S|ACAN_ENST00000559004.1_Silent_p.S128S NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 128 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CCAATGACTCTGGGGTCTACC 0.617000 35 129 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123519834 123519834 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chrX:123519834C>A ENST00000422452.2 - 29 5832 c.5769G>T c.(5767-5769)atG>atT p.M1923I TENM1_ENST00000371130.3_Missense_Mutation_p.M1916I|STAG2_ENST00000469481.1_Intron NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CCATGCTAGGCATGGTGACTG 0.498000 5 91 0.014758 0.015333 1 1 0 OR5D18 219438 broad.mit.edu 37 11 55587189 55587189 + Silent SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:55587189C>A ENST00000333976.4 + 1 104 c.84C>A c.(82-84)ctC>ctA p.L28L NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) AAGTCCCACTCTTCCTGGTTT 0.463000 22 90 2.21704e-12 3.34647e-12 1 1 0 C10orf55 414236 broad.mit.edu 37 10 75672001 75672001 + Translation_Start_Site SNP A A G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr10:75672001A>G ENST00000409178.1 - 4 342 c.2T>C c.(1-3)aTg>aCg p.M1T PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372762.4_Intron|PLAU_ENST00000372764.3_Silent_p.T38T|PLAU_ENST00000446342.1_Silent_p.T21T|C10orf55_ENST00000412307.2_Start_Codon_SNP_p.M1T NM_001001791.2 NP_001001791.2 Q5SWW7 CJ055_HUMAN chromosome 10 open reading frame 55 1 endometrium(1) 1 Prostate(51;0.0112) ATGGAGGAACATGTGTGTCCA 0.527000 12 64 0 0 1 0 0 GABRG1 2565 broad.mit.edu 37 4 46043188 46043188 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr4:46043188C>A ENST00000295452.4 - 9 1382 c.1215G>T c.(1213-1215)caG>caT p.Q405H NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 405 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CCTCCAAACACTGATACCCAT 0.433000 15 67 2.62699e-14 4.02861e-14 1 1 0 SPAG17 200162 broad.mit.edu 37 1 118570996 118570996 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:118570996G>T ENST00000336338.5 - 26 3696 c.3631C>A c.(3631-3633)Cct>Act p.P1211T NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1211 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TGTAAAACAGGTTCTGGTTCT 0.398000 8 96 0.0692343 0.0711616 1 1 0 KMT2A 4297 broad.mit.edu 37 11 118373179 118373179 + Missense_Mutation SNP G G A rs141727765 byFrequency TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:118373179G>A ENST00000534358.1 + 27 6595 c.6572G>A c.(6571-6573)cGa>cAa p.R2191Q KMT2A_ENST00000389506.5_Missense_Mutation_p.R2188Q|KMT2A_ENST00000354520.4_Missense_Mutation_p.R2150Q NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A TCTGGACTTCGAAGCATTGGC 0.453000 4 91 0 0 1 0 0 WIF1 11197 broad.mit.edu 37 12 65462552 65462552 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr12:65462552C>A ENST00000286574.4 - 4 904 c.530G>T c.(529-531)tGt>tTt p.C177F NM_007191.4 NP_009122.2 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 177 WIF. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) ACCTTGTTGACATGTTTTAAA 0.398000 T HMGA2 pleomorphic salivary gland adenoma 28 59 9.39395e-14 1.43602e-13 1 1 0 GPHN 10243 broad.mit.edu 37 14 67576858 67576858 + Splice_Site SNP C C G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr14:67576858C>G ENST00000478722.1 + 14 2416 c.1293_splice c.e14-1 p.P432_splice GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000315266.5_Splice_Site_p.P399_splice|GPHN_ENST00000305960.9_Splice_Site_p.P368_splice|GPHN_ENST00000543237.1_Splice_Site_p.P445_splice NM_020806.4 NP_065857.1 Q9NQX3 GEPH_HUMAN gephyrin 399 MPT adenylyltransferase. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) TATTTCCAGCCAACTCAGACA 0.398000 T MLL AL 11 98 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55658655 55658655 + Silent SNP G G C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:55658655G>C ENST00000449290.2 + 7 998 c.906G>C c.(904-906)ctG>ctC p.L302L TRIM51_ENST00000244891.3_Silent_p.L159L NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 302 B30.2/SPRY. intracellular zinc ion binding ATATCTTCCTGTGTGGAGATT 0.353000 24 126 0 0 1 0 0 SLC30A6 55676 broad.mit.edu 37 2 32445437 32445437 + Silent SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:32445437A>T ENST00000282587.5 + 14 1078 c.1041A>T c.(1039-1041)gcA>gcT p.A347A SLC30A6_ENST00000357055.3_Silent_p.A150A|SLC30A6_ENST00000435660.1_Silent_p.A324A|SLC30A6_ENST00000406369.1_Silent_p.A273A|SLC30A6_ENST00000379343.2_Silent_p.A387A|SLC30A6_ENST00000538303.1_Silent_p.A318A NM_017964.3 NP_060434.2 Q6NXT4 ZNT6_HUMAN solute carrier family 30 (zinc transporter), member 6 347 Golgi membrane|integral to membrane zinc ion transmembrane transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GGCCTGTTGCAGCCAATGTCC 0.428000 9 110 0 0 1 0 0 CEP290 80184 broad.mit.edu 37 12 88480265 88480265 + Missense_Mutation SNP T T G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr12:88480265T>G ENST00000552810.1 - 33 4548 c.4205A>C c.(4204-4206)gAa>gCa p.E1402A CEP290_ENST00000309041.7_Missense_Mutation_p.E1404A|CEP290_ENST00000547691.2_Missense_Mutation_p.E462A|CEP290_ENST00000397838.3_Missense_Mutation_p.E462A NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 1402 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 CATTTGTCTTTCTTCATGAAA 0.368000 3 5 0 0 1 0 0 OR52A5 390054 broad.mit.edu 37 11 5153015 5153015 + Silent SNP G G T rs139029637 by1000genomes TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:5153015G>T ENST00000307388.1 - 1 857 c.858C>A c.(856-858)gtC>gtA p.V286V NM_001005160.2 NP_001005160.1 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, member 5 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) GAAAAGGTGGGACTAACAGGT 0.378000 20 85 0.000132079 0.000156925 1 1 0 OR51I2 390064 broad.mit.edu 37 11 5474828 5474828 + Missense_Mutation SNP T T A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:5474828T>A ENST00000341449.2 + 1 191 c.110T>A c.(109-111)gTg>gAg p.V37E HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron NM_001004754.2 NP_001004754.1 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, member 2 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATGTATGCTGTGGCCCTTGGG 0.557000 11 53 0 0 1 0 0 TRAF5 7188 broad.mit.edu 37 1 211545842 211545842 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:211545842G>T ENST00000261464.5 + 11 1526 c.1472G>T c.(1471-1473)gGc>gTc p.G491V TRAF5_ENST00000427925.2_Missense_Mutation_p.G385V|TRAF5_ENST00000367004.3_Missense_Mutation_p.G491V|TRAF5_ENST00000336184.2_Missense_Mutation_p.G491V NM_001033910.2 NP_001029082.1 O00463 TRAF5_HUMAN TNF receptor-associated factor 5 491 MATH. apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis CD40 receptor complex|centrosome|internal side of plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144) GACCAGAGTGGCAAAAAGAAC 0.502000 5 78 1.23904e-05 1.53283e-05 1 1 0 TTN 7273 broad.mit.edu 37 2 179453673 179453673 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:179453673G>A ENST00000589042.1 - 304 63003 c.62779C>T c.(62779-62781)Cgt>Tgt p.R20927C TTN_ENST00000342175.6_Missense_Mutation_p.R12054C|TTN_ENST00000342992.6_Missense_Mutation_p.R18359C|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11987C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19286C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R11862C|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19286 Ig-like 112. 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) TCTATGAGACGTGTTACTGTA 0.383000 6 39 0 0 1 0 0 KIAA1755 85449 broad.mit.edu 37 20 36848061 36848061 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr20:36848061G>T ENST00000279024.4 - 11 2798 c.2527C>A c.(2527-2529)Ctg>Atg p.L843M NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 843 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) AGGCGGCCCAGGCGGACACGG 0.627000 19 101 2.89027e-11 4.2687e-11 1 1 0 SGCZ 137868 broad.mit.edu 37 8 13948038 13948038 + Missense_Mutation SNP C C A rs139184216 TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:13948038C>A ENST00000382080.1 - 8 1568 c.853G>T c.(853-855)Gtc>Ttc p.V285F SGCZ_ENST00000421524.2_Missense_Mutation_p.V238F NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 272 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma p.V285I(1) NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) TTGGGGCAGACGCAGAGTTCA 0.483000 23 86 7.88262e-20 1.25287e-19 1 1 0 FANCC 2176 broad.mit.edu 37 9 97897669 97897669 + Missense_Mutation SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr9:97897669A>T ENST00000289081.3 - 8 1056 c.802T>A c.(802-804)Tgt>Agt p.C268S FANCC_ENST00000375305.1_Missense_Mutation_p.C268S NM_000136.2 NP_000127.2 Q00597 FANCC_HUMAN Fanconi anemia, complementation group C 268 protein complex assembly cytosol|nucleoplasm protein binding kidney(1)|skin(1)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(62;0.138) CTTCTCAGACAATTTCTCTCA 0.438000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 7 43 0 0 1 0 0 SLC33A1 9197 broad.mit.edu 37 3 155551291 155551291 + Missense_Mutation SNP T T C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr3:155551291T>C ENST00000392845.2 - 4 1612 c.1232A>G c.(1231-1233)tAt>tGt p.Y411C SLC33A1_ENST00000359479.3_Missense_Mutation_p.Y411C NM_004733.3 NP_004724.1 O00400 ACATN_HUMAN solute carrier family 33 (acetyl-CoA transporter), member 1 411 cell death|transmembrane transport endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 22 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GACTACGATATAGTAATATAT 0.378000 5 71 0 0 1 0 0 ERCC4 2072 broad.mit.edu 37 16 14041630 14041630 + Missense_Mutation SNP G G C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr16:14041630G>C ENST00000311895.7 + 11 2186 c.2177G>C c.(2176-2178)cGc>cCc p.R726P NM_005236.2 NP_005227.1 Q92889 XPF_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 4 726 ERCC4.|Interaction with EME1 and ERCC1. double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 38 TGCGTGGAGCGCAAGAGTATC 0.498000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 23 135 0 0 1 0 0 METAP1D 254042 broad.mit.edu 37 2 172942561 172942561 + Silent SNP A A C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:172942561A>C ENST00000315796.4 + 7 1128 c.741A>C c.(739-741)ccA>ccC p.P247P METAP1D_ENST00000488581.1_3'UTR NM_199227.1 NP_954697.1 Q6UB28 AMP1D_HUMAN methionyl aminopeptidase type 1D (mitochondrial) 247 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis mitochondrion aminopeptidase activity|metal ion binding|metalloexopeptidase activity NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 8 AAGTCTGTCCACATTTTGTGG 0.333000 13 39 0 0 1 0 0 MGAT1 4245 broad.mit.edu 37 5 180219536 180219536 + Nonsense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr5:180219536C>A ENST00000446023.2 - 3 1186 c.436G>T c.(436-438)Gag>Tag p.E146* MGAT1_ENST00000307826.4_Nonsense_Mutation_p.E146*|MGAT1_ENST00000427865.2_Nonsense_Mutation_p.E146*|MGAT1_ENST00000393340.3_Nonsense_Mutation_p.E146*|MGAT1_ENST00000333055.3_Nonsense_Mutation_p.E146* NM_001114617.1|NM_001114618.1 NP_001108089.1|NP_001108090.1 P26572 MGAT1_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 146 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 13 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCGTCTCCTCGTGCCCGCAG 0.667000 7 60 0.00307968 0.00339047 1 1 0 TRIB2 28951 broad.mit.edu 37 2 12880672 12880672 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:12880672C>A ENST00000155926.4 + 3 2203 c.784C>A c.(784-786)Ctc>Atc p.L262I TRIB2_ENST00000381465.2_Missense_Mutation_p.L126I NM_021643.3 NP_067675.1 Q92519 TRIB2_HUMAN tribbles pseudokinase 2 262 Protein kinase. negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ACCCAGCTCCCTCTTCAGCAA 0.592000 8 38 0.00307968 0.00339047 1 1 0 GJB2 2706 broad.mit.edu 37 13 20763553 20763553 + Silent SNP C C A rs80338942 TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr13:20763553C>A ENST00000382844.1 - 1 366 c.168G>T c.(166-168)ctG>ctT p.L56L GJB2_ENST00000382848.4_Silent_p.L56L P29033 CXB2_HUMAN gap junction protein, beta 2, 26kDa 56 cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport connexon complex|ER-Golgi intermediate compartment|integral to membrane breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738) AGCCTGGCTGCAGGGTGTTGC 0.572000 Keratitis, Ichthyosis and Deafness syndrome OREG0022282 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 76 0.000422831 0.000486712 1 1 0 DYSF 8291 broad.mit.edu 37 2 71791192 71791192 + Missense_Mutation SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:71791192A>T ENST00000258104.3 + 24 2637 c.2360A>T c.(2359-2361)cAg>cTg p.Q787L DYSF_ENST00000410041.1_Missense_Mutation_p.Q805L|DYSF_ENST00000409582.3_Missense_Mutation_p.Q804L|DYSF_ENST00000409366.1_Missense_Mutation_p.Q788L|DYSF_ENST00000394120.2_Missense_Mutation_p.Q788L|DYSF_ENST00000410020.3_Missense_Mutation_p.Q805L|DYSF_ENST00000409762.1_Missense_Mutation_p.Q804L|DYSF_ENST00000413539.2_Missense_Mutation_p.Q818L|DYSF_ENST00000429174.2_Missense_Mutation_p.Q787L|DYSF_ENST00000409744.1_Missense_Mutation_p.Q774L|DYSF_ENST00000409651.1_Missense_Mutation_p.Q819L NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 787 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GTTCAGCCCCAGAACAGCCTG 0.657000 5 46 0 0 1 0 0 LARGE 9215 broad.mit.edu 37 22 33960892 33960892 + Silent SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr22:33960892C>A ENST00000354992.2 - 7 1300 c.729G>T c.(727-729)acG>acT p.T243T LARGE_ENST00000452586.2_Silent_p.T42T|LARGE_ENST00000337431.2_Silent_p.T243T|LARGE_ENST00000437602.2_Silent_p.T243T|LARGE_ENST00000397394.2_Silent_p.T243T|LARGE_ENST00000402320.1_Silent_p.T243T NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 243 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) AGGTGATATCCGTGTCAAGGA 0.478000 26 78 2.44723e-14 3.76497e-14 1 1 0 FAM83B 222584 broad.mit.edu 37 6 54805102 54805102 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr6:54805102G>A ENST00000306858.7 + 5 1449 c.1333G>A c.(1333-1335)Gcc>Acc p.A445T NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 445 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) CCAGAGTTTTGCCAATCGGCT 0.463000 10 67 0 0 1 0 0 PDZD8 118987 broad.mit.edu 37 10 119044981 119044981 + Splice_Site SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr10:119044981A>T ENST00000334464.5 - 5 1502 c.1261_splice c.e5-1 p.G421_splice PDZD8_ENST00000482496.1_5'UTR NM_173791.3 NP_776152.1 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 421 PDZ. intracellular signal transduction metal ion binding kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) TGATTTTCACACCTGGTTTAA 0.338000 5 33 0 0 1 0 0 OPHN1 4983 broad.mit.edu 37 X 67339135 67339135 + Missense_Mutation SNP T T A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chrX:67339135T>A ENST00000355520.5 - 16 1957 c.1316A>T c.(1315-1317)gAc>gTc p.D439V OPHN1_ENST00000540071.1_Missense_Mutation_p.D439V NM_002547.2 NP_002538.1 O60890 OPHN1_HUMAN oligophrenin 1 439 Rho-GAP. axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2) 31 AATGTCCCAGTCACTATTATG 0.348000 6 46 0 0 1 0 0 HSPA9 3313 broad.mit.edu 37 5 137897272 137897272 + Silent SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr5:137897272G>A ENST00000297185.3 - 10 1304 c.1179C>T c.(1177-1179)ccC>ccT p.P393P HSPA9_ENST00000501917.2_Intron NM_004134.6 NP_004125.3 P38646 GRP75_HUMAN heat shock 70kDa protein 9 (mortalin) 393 anti-apoptosis|protein folding cell surface|mitochondrial nucleoid ATP binding|unfolded protein binding breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TCCATACCTTGGGCATCCTAG 0.502000 8 42 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51503747 51503747 + Silent SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr6:51503747G>T ENST00000371117.3 - 64 11681 c.11406C>A c.(11404-11406)acC>acA p.T3802T NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3802 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 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) TTTCTGCCTGGGTGCACCCTA 0.393000 19 86 1.45105e-14 2.23957e-14 1 1 0 RALGAPA2 57186 broad.mit.edu 37 20 20453524 20453524 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr20:20453524C>A ENST00000202677.6 - 37 5586 c.5444G>T c.(5443-5445)tGc>tTc p.C1815F NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 1815 Rap-GAP. activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 GGCGTTGATGCACGTGGCACA 0.458000 5 28 0.000602214 0.000684983 1 1 0 TCP10 6953 broad.mit.edu 37 6 167789462 167789462 + Missense_Mutation SNP C C G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr6:167789462C>G ENST00000366827.2 - 6 891 c.680G>C c.(679-681)aGa>aCa p.R227T TCP10_ENST00000397829.4_Missense_Mutation_p.R227T Q12799 TCP10_HUMAN t-complex 10 254 cytosol NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6) 18 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) ACCAGCTCCTCTGGCTGCTGC 0.567000 3 9 0 0 1 0 0 MRC2 9902 broad.mit.edu 37 17 60749182 60749182 + Silent SNP C C G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr17:60749182C>G ENST00000303375.5 + 7 1692 c.1290C>G c.(1288-1290)acC>acG p.T430T NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 430 C-type lectin 2. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 AATTCATCACCAAGCAGATCA 0.632000 7 38 0 0 1 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159820165 159820165 + RNA SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr3:159820165C>T ENST00000497452.1 - 0 517 GTCCAATACTCAAGACAGGCT 0.418000 31 152 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3672708 3672708 + Missense_Mutation SNP C C G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr20:3672708C>G ENST00000344754.4 - 16 4171 c.4172G>C c.(4171-4173)gGg>gCg p.G1391A SIGLEC1_ENST00000202578.4_Missense_Mutation_p.G1391A NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 1391 Ig-like C2-type 14. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding 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 GCTGTGGACCCCGCTGCTCGT 0.602000 6 24 0 0 1 0 0 SLC39A6 25800 broad.mit.edu 37 18 33706778 33706778 + Missense_Mutation SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr18:33706778C>T ENST00000269187.5 - 2 406 c.193G>A c.(193-195)Gga>Aga p.G65R SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000590986.1_Missense_Mutation_p.G65R NM_012319.3 NP_036451.3 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), member 6 65 integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 41 TTATTTTCTCCATAGCGGTAG 0.368000 17 96 0 0 1 0 0 CYP11A1 1583 broad.mit.edu 37 15 74636303 74636303 + Missense_Mutation SNP T T A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr15:74636303T>A ENST00000358632.4 - 4 877 c.182A>T c.(181-183)cAg>cTg p.Q61L CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000268053.6_Missense_Mutation_p.Q219L|CYP11A1_ENST00000419019.2_Missense_Mutation_p.Q61L NM_001099773.1 NP_001093243.1 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, polypeptide 1 219 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) CAGCATCCCCTGGCGCTCCCC 0.582000 15 60 0 0 1 0 0 LATS1 9113 broad.mit.edu 37 6 149983376 149983376 + Splice_Site SNP T T A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr6:149983376T>A ENST00000543571.1 - 8 3431 c.e8-2 LATS1_ENST00000253339.5_Splice_Site NM_004690.3 NP_004681.1 O95835 LATS1_HUMAN large tumor suppressor kinase 1 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) GTTGATAACCTTTAAAGATTT 0.333000 9 47 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247588785 247588785 + Silent SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:247588785C>A ENST00000366497.2 + 4 2820 c.2040C>A c.(2038-2040)tcC>tcA p.S680S NLRP3_ENST00000348069.2_Silent_p.S680S|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Silent_p.S680S|NLRP3_ENST00000366496.2_Silent_p.S680S|NLRP3_ENST00000336119.3_Silent_p.S680S|NLRP3_ENST00000391827.2_Silent_p.S680S NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 680 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) AGTCACTGTCCCTGGGGTTTC 0.502000 9 47 0.00621372 0.00668741 1 1 0 MYO10 4651 broad.mit.edu 37 5 16671037 16671037 + Silent SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr5:16671037G>T ENST00000513610.1 - 39 5935 c.5481C>A c.(5479-5481)ctC>ctA p.L1827L MYO10_ENST00000427430.2_Silent_p.L1184L|MYO10_ENST00000515803.1_Silent_p.L1166L|MYO10_ENST00000274203.9_Silent_p.L1184L|MYO10_ENST00000505695.1_Silent_p.L1166L NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1827 FERM. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 CAAGAACCTGGAGGTTTTCTT 0.562000 6 29 0.0215528 0.0223441 1 1 0 ADCY1 107 broad.mit.edu 37 7 45750210 45750210 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr7:45750210G>T ENST00000297323.7 + 19 3038 c.3016G>T c.(3016-3018)Gcc>Tcc p.A1006S NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 1006 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) AGTCAACGTGGCCAGTCGGAT 0.567000 7 58 2.7689e-08 3.81917e-08 1 1 0 DPP10 57628 broad.mit.edu 37 2 116525923 116525923 + Silent SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:116525923G>T ENST00000410059.1 + 13 1644 c.1164G>T c.(1162-1164)gtG>gtT p.V388V DPP10_ENST00000393147.2_Silent_p.V392V|DPP10_ENST00000310323.8_Silent_p.V381V|DPP10_ENST00000409163.1_Silent_p.V338V NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 388 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 TTATGACAGTGCCTGTTAAGC 0.438000 8 37 5.68852e-11 8.24922e-11 1 1 0 CRISP2 7180 broad.mit.edu 37 6 49665656 49665656 + Silent SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr6:49665656C>A ENST00000339139.4 - 8 668 c.432G>T c.(430-432)tcG>tcT p.S144S NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3 NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 144 extracellular space kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) CCTGGTAAGTCGAGTACCAAA 0.318000 13 66 0.000219431 0.000258155 1 1 0 HRNR 388697 broad.mit.edu 37 1 152191361 152191361 + Missense_Mutation SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:152191361C>T ENST00000368801.2 - 3 2819 c.2744G>A c.(2743-2745)cGg>cAg p.R915Q FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 915 keratinization calcium ion binding|protein binding 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) GCTGGAAGACCGACCGGAGCC 0.622000 28 284 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179447686 179447686 + Silent SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:179447686G>T ENST00000589042.1 - 313 66068 c.65844C>A c.(65842-65844)acC>acA p.T21948T TTN_ENST00000342175.6_Silent_p.T13075T|TTN_ENST00000342992.6_Silent_p.T19380T|TTN_ENST00000359218.5_Silent_p.T13008T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T20307T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.T12883T|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20307 Fibronectin type-III 59. 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) TAAGCTTAATGGTGGCTGATT 0.388000 3 25 0.00024832 0.000288604 1 1 0 SPAG9 9043 broad.mit.edu 37 17 49124736 49124736 + Splice_Site SNP C C G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr17:49124736C>G ENST00000262013.7 - 4 798 c.590_splice c.e4+1 p.R197_splice SPAG9_ENST00000505279.1_Splice_Site_p.R197_splice|SPAG9_ENST00000357122.4_Splice_Site_p.R197_splice|RP11-481C4.1_ENST00000509833.1_RNA NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 197 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) CAAAGCTTACCTAATTCTACT 0.303000 9 86 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72951130 72951130 + Silent SNP A A G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:72951130A>G ENST00000262209.4 - 19 2472 c.2265T>C c.(2263-2265)acT>acC p.T755T RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000524152.1_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 755 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) AATGATCACTAGTTTCATTGA 0.303000 12 53 0 0 1 0 0 HAVCR1 26762 broad.mit.edu 37 5 156479455 156479455 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr5:156479455G>T ENST00000339252.3 - 3 1122 c.590C>A c.(589-591)cCa>cAa p.P197Q HAVCR1_ENST00000425854.1_Missense_Mutation_p.P197Q|HAVCR1_ENST00000523175.1_Missense_Mutation_p.P197Q|HAVCR1_ENST00000522693.1_Missense_Mutation_p.P197Q|HAVCR1_ENST00000544197.1_Missense_Mutation_p.P197Q NM_012206.2 NP_036338.2 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 192 11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich. interspecies interaction between organisms integral to membrane receptor activity endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGTTGTTGTTGGAATGCTCGT 0.453000 50 398 6.31075e-24 1.02337e-23 1 1 0 BBS9 27241 broad.mit.edu 37 7 33312624 33312624 + Splice_Site SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr7:33312624G>T ENST00000242067.6 + 8 1224 c.702_splice c.e8-1 p.V235_splice BBS9_ENST00000425508.2_Splice_Site_p.V190_splice|BBS9_ENST00000354265.4_Splice_Site_p.V235_splice|BBS9_ENST00000396127.2_Splice_Site_p.V235_splice|BBS9_ENST00000355070.2_Splice_Site_p.V235_splice|BBS9_ENST00000350941.3_Splice_Site_p.V235_splice NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 235 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) TGCTTTGTAGGTGGATTGGAC 0.333000 Bardet-Biedl syndrome 28 141 4.22769e-11 6.22483e-11 1 1 0 PDE2A 5138 broad.mit.edu 37 11 72289976 72289976 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:72289976G>T ENST00000334456.5 - 28 2679 c.2434C>A c.(2434-2436)Cag>Aag p.Q812K PDE2A_ENST00000540345.1_Missense_Mutation_p.Q803K|PDE2A_ENST00000544570.1_Missense_Mutation_p.Q805K|PDE2A_ENST00000376450.3_Missense_Mutation_p.Q556K|PDE2A_ENST00000418754.2_Missense_Mutation_p.Q697K|PDE2A_ENST00000444035.2_Missense_Mutation_p.Q803K NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 812 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) CCCTTGGTCTGGTCAGAGAGG 0.597000 10 33 0.0692343 0.0711616 1 1 0 FGF12 2257 broad.mit.edu 37 3 192053230 192053230 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr3:192053230C>A ENST00000454309.2 - 3 1159 c.334G>T c.(334-336)Ggc>Tgc p.G112C FGF12_ENST00000445105.1_Missense_Mutation_p.G50C|FGF12_ENST00000450716.1_Missense_Mutation_p.G50C|FGF12_ENST00000264730.3_Missense_Mutation_p.G50C|FGF12_ENST00000430714.1_Missense_Mutation_p.G13C NM_021032.4 NP_066360.1 P61328 FGF12_HUMAN fibroblast growth factor 12 112 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) ACACGCAGGCCCACGGGAATT 0.443000 15 74 4.14922e-12 6.24334e-12 1 1 0 PLEC 5339 broad.mit.edu 37 8 144997239 144997239 + Silent SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:144997239C>T ENST00000322810.4 - 31 7438 c.7269G>A c.(7267-7269)gcG>gcA p.A2423A PLEC_ENST00000354589.3_Silent_p.A2286A|PLEC_ENST00000398774.2_Silent_p.A2254A|PLEC_ENST00000356346.3_Silent_p.A2272A|PLEC_ENST00000345136.3_Silent_p.A2286A|PLEC_ENST00000357649.2_Silent_p.A2290A|PLEC_ENST00000354958.2_Silent_p.A2264A|PLEC_ENST00000527096.1_Silent_p.A2309A|PLEC_ENST00000436759.2_Silent_p.A2313A NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2423 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 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 CCTCTTGGGCCGCCACACTCA 0.642000 6 23 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90502746 90502746 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr9:90502746G>A ENST00000325643.5 + 4 3410 c.3344G>A c.(3343-3345)cGt>cAt p.R1115H NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CTGCCAGGCCGTGCCCCGGGC 0.642000 5 48 0 0 1 0 0 OR2T11 127077 broad.mit.edu 37 1 248790367 248790367 + Silent SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:248790367G>T ENST00000330803.2 - 1 124 c.63C>A c.(61-63)gcC>gcA p.A21A NM_001001964.1 NP_001001964.1 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene) 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(20)|skin(2) 28 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) ATACAATCCCGGCAGCCTCAC 0.532000 25 78 8.24728e-16 1.28948e-15 1 1 0 PYROXD1 79912 broad.mit.edu 37 12 21608979 21608979 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr12:21608979G>A ENST00000538582.1 + 7 1240 c.487G>A c.(487-489)Gca>Aca p.A163T PYROXD1_ENST00000240651.9_Missense_Mutation_p.A234T|PYROXD1_ENST00000545178.1_3'UTR Q8WU10 PYRD1_HUMAN pyridine nucleotide-disulphide oxidoreductase domain 1 234 oxidoreductase activity endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1) 18 TGTAGGAAGTGCATTGGGACC 0.303000 11 54 0 0 1 0 0 MCM8 84515 broad.mit.edu 37 20 5932746 5932746 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr20:5932746G>A ENST00000378896.3 + 2 462 c.85G>A c.(85-87)Gga>Aga p.G29R MCM8_ENST00000265187.4_Missense_Mutation_p.G29R|MCM8_ENST00000378883.1_Missense_Mutation_p.G29R|MCM8_ENST00000378886.2_Missense_Mutation_p.G29R NM_032485.4|NM_182802.1 NP_115874.3|NP_877954.1 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 29 cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 23 GAACTTCTCAGGAAAATGGAG 0.418000 9 63 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32305711 32305711 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chrX:32305711C>A ENST00000357033.4 - 43 6431 c.6225G>T c.(6223-6225)caG>caT p.Q2075H DMD_ENST00000378677.2_Missense_Mutation_p.Q2071H 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 2075 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 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) AGAGAGCTTCCTGTAGCTTCA 0.418000 10 77 5.16669e-11 7.51518e-11 1 1 0 TXLNA 200081 broad.mit.edu 37 1 32650179 32650179 + Nonsense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:32650179G>T ENST00000373609.1 + 3 840 c.559G>T c.(559-561)Gag>Tag p.E187* TXLNA_ENST00000373610.3_Nonsense_Mutation_p.E187* P40222 TXLNA_HUMAN taxilin alpha 187 cell proliferation|exocytosis cytoplasm|extracellular region cytokine activity|high molecular weight B cell growth factor receptor binding endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) TACCCCAGAGGAGAAGCTGGC 0.547000 16 101 3.45872e-05 4.22439e-05 1 1 0 CPLX3 594855 broad.mit.edu 37 15 75122474 75122474 + Nonsense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr15:75122474G>T ENST00000395018.4 + 3 413 c.256G>T c.(256-258)Gag>Tag p.E86* RP11-414J4.2_ENST00000564823.1_RNA NM_001030005.2 NP_001025176.1 Q8WVH0 CPLX3_HUMAN complexin 3 86 cell junction|synapse syntaxin binding large_intestine(2)|lung(2) 4 CCTTCAGAACGAGACAGATGA 0.607000 7 33 2.0095e-06 2.60692e-06 1 1 0 PCDH17 27253 broad.mit.edu 37 13 58298772 58298772 + Missense_Mutation SNP G G C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr13:58298772G>C ENST00000377918.3 + 4 2850 c.2824G>C c.(2824-2826)Gat>Cat p.D942H NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 942 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) TAATTGCACAGATGAATGCCG 0.423000 11 49 0 0 1 0 0 BAIAP3 8938 broad.mit.edu 37 16 1391405 1391405 + Missense_Mutation SNP G G T rs139469260 byFrequency TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr16:1391405G>T ENST00000324385.5 + 8 909 c.751G>T c.(751-753)Ggt>Tgt p.G251C BAIAP3_ENST00000421665.2_Missense_Mutation_p.G216C|BAIAP3_ENST00000397489.1_Missense_Mutation_p.G233C|BAIAP3_ENST00000426824.3_Missense_Mutation_p.G216C|BAIAP3_ENST00000397488.2_Missense_Mutation_p.G233C|BAIAP3_ENST00000568887.1_Missense_Mutation_p.G188C|BAIAP3_ENST00000562208.1_Missense_Mutation_p.G193C NM_003933.4 NP_003924.2 O94812 BAIP3_HUMAN BAI1-associated protein 3 251 C2 1. G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding 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) CAGCAAGCGCGGTGGACCCCT 0.667000 18 70 2.35188e-11 3.50591e-11 1 1 0 PCDHB12 56124 broad.mit.edu 37 5 140589142 140589142 + Silent SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr5:140589142C>A ENST00000239450.2 + 1 852 c.663C>A c.(661-663)ccC>ccA p.P221P PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 221 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTCCCCTCCCAGGTCTGGAA 0.502000 19 83 5.3912e-06 6.84597e-06 1 1 0 CCDC70 83446 broad.mit.edu 37 13 52439616 52439616 + Silent SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr13:52439616C>T ENST00000242819.4 + 2 398 c.102C>T c.(100-102)ccC>ccT p.P34P NM_031290.2 NP_112580.2 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 34 extracellular region|plasma membrane breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1) 15 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) CATCCTCTCCCAGTATTCGCC 0.507000 21 68 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207172049 207172049 + Missense_Mutation SNP G G C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:207172049G>C ENST00000374423.3 + 5 3183 c.2797G>C c.(2797-2799)Gat>Cat p.D933H NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 933 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 ACGTTCTGAAGATCCCATTAA 0.343000 7 34 0 0 1 0 0 MICALCL 84953 broad.mit.edu 37 11 12379950 12379950 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:12379950G>A ENST00000256186.2 + 9 2303 c.2012G>A c.(2011-2013)cGc>cAc p.R671H NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 671 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) GAGGAACAACGCATCAGAGAA 0.493000 42 232 0 0 1 0 0 PALB2 79728 broad.mit.edu 37 16 23647163 23647163 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr16:23647163G>T ENST00000261584.4 - 4 856 c.704C>A c.(703-705)aCa>aAa p.T235K NM_024675.3 NP_078951.2 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 235 Interaction with BRCA1. double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) TCTTAGGAATGTATCAACACC 0.403000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 8 254 0.00448238 0.00487878 1 1 0 LRRTM3 347731 broad.mit.edu 37 10 68688196 68688196 + Missense_Mutation SNP T T C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr10:68688196T>C ENST00000361320.4 + 2 2100 c.1522T>C c.(1522-1524)Tcc>Ccc p.S508P CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 508 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 CAAATCGGGCTCCAGGGAGTG 0.468000 10 66 0 0 1 0 0 GUCY2F 2986 broad.mit.edu 37 X 108719012 108719012 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chrX:108719012G>T ENST00000218006.2 - 2 445 c.154C>A c.(154-156)Ccc>Acc p.P52T NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 52 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 ATCTTGTAGGGGAGTGTCCAC 0.567000 OREG0019905 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 67 6.40141e-05 7.68169e-05 1 1 0 DNMT3A 1788 broad.mit.edu 37 2 25467188 25467188 + Missense_Mutation SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:25467188C>T ENST00000264709.3 - 15 2024 c.1687G>A c.(1687-1689)Gtg>Atg p.V563M DNMT3A_ENST00000380746.4_Missense_Mutation_p.V374M|DNMT3A_ENST00000321117.5_Missense_Mutation_p.V563M|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Missense_Mutation_p.V340M NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 563 ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity). regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGAGGTCCACACACTCCACG 0.622000 """Mis, F, N, S""" AML 9 16 0 0 1 0 0 FDXACB1 91893 broad.mit.edu 37 11 111745877 111745877 + Missense_Mutation SNP T T A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:111745877T>A ENST00000260257.4 - 5 1691 c.1644A>T c.(1642-1644)aaA>aaT p.K548N ALG9_ENST00000527377.1_Intron|FDXACB1_ENST00000542429.1_Missense_Mutation_p.K399N|ALG9_ENST00000524880.1_Intron NM_138378.2 NP_612387.1 Q9BRP7 FDXA1_HUMAN ferredoxin-fold anticodon binding domain containing 1 548 FDX-ACB. phenylalanyl-tRNA aminoacylation|tRNA processing ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3) 19 CATCAAATCCTTTCTTCTGAT 0.393000 5 37 0 0 1 0 0 FAM198B 51313 broad.mit.edu 37 4 159092507 159092507 + Silent SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr4:159092507C>A ENST00000296530.8 - 2 642 c.21G>T c.(19-21)ccG>ccT p.P7P RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000592057.1_Silent_p.P7P|FAM198B_ENST00000585682.1_Silent_p.P7P|FAM198B_ENST00000393807.5_Silent_p.P7P|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000509463.1_RNA NM_016613.6 NP_057697.2 Q6UWH4 F198B_HUMAN family with sequence similarity 198, member B 7 Golgi membrane|integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1) 26 TGAGCTGCCCCGGCTTGTCTG 0.562000 9 32 0.00448238 0.00487878 1 1 0 TSSC2 650368 broad.mit.edu 37 11 3424170 3424170 + RNA SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:3424170G>T ENST00000529482.1 + 0 829 CCATCTGCTGGCAGCTTTAGA 0.562000 3 14 0.00024832 0.000288604 1 1 0 NID2 22795 broad.mit.edu 37 14 52477609 52477609 + Missense_Mutation SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr14:52477609A>T ENST00000216286.5 - 18 3706 c.3707T>A c.(3706-3708)gTg>gAg p.V1236E NID2_ENST00000541773.1_Missense_Mutation_p.V1135E NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 1236 basement membrane calcium ion binding|collagen binding 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) GATTGGATCCACAGCGATGGC 0.522000 6 117 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70841704 70841704 + Missense_Mutation SNP T T C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr16:70841704T>C ENST00000393567.2 - 86 15295 c.15145A>G c.(15145-15147)Atg>Gtg p.M5049V NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 5049 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AAGGTCACCATGTGATAGAAG 0.532000 6 91 0 0 1 0 0 KCNK2 3776 broad.mit.edu 37 1 215408461 215408461 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:215408461G>T ENST00000444842.2 + 7 1404 c.1254G>T c.(1252-1254)gaG>gaT p.E418D KCNK2_ENST00000391894.2_Missense_Mutation_p.E403D|KCNK2_ENST00000391895.2_Missense_Mutation_p.E414D NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 418 Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity). outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) CTGGTGAAGAGATTGCTGTGA 0.458000 15 82 6.72482e-11 9.72264e-11 1 1 0 C15orf27 123591 broad.mit.edu 37 15 76496149 76496149 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr15:76496149C>A ENST00000388942.3 + 11 1365 c.1089C>A c.(1087-1089)aaC>aaA p.N363K NM_152335.2 NP_689548.2 Q2M3C6 CO027_HUMAN chromosome 15 open reading frame 27 363 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 ACCAGCCCAACATCTCCTCGG 0.607000 25 144 4.59853e-10 6.54983e-10 1 1 0 DERL1 79139 broad.mit.edu 37 8 124031533 124031533 + Silent SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:124031533C>T ENST00000259512.4 - 7 819 c.519G>A c.(517-519)gaG>gaA p.E173E DERL1_ENST00000419562.2_Silent_p.E73E|DERL1_ENST00000519018.1_Silent_p.E73E|DERL1_ENST00000405944.3_Intron|DERL1_ENST00000523036.1_Silent_p.E73E|RP11-557C18.3_ENST00000521258.1_RNA NM_001134671.1|NM_024295.4 NP_001128143.1|NP_077271.1 Q9BUN8 DERL1_HUMAN derlin 1 173 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol integral to endoplasmic reticulum membrane MHC class I protein binding|receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 8 Lung NSC(37;1.06e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) TTCCAATAAGCTCATTGATTA 0.368000 3 23 0 0 1 0 0 SNAI3 333929 broad.mit.edu 37 16 88747978 88747978 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr16:88747978G>A ENST00000332281.5 - 2 307 c.221C>T c.(220-222)cCa>cTa p.P74L SNAI3-AS1_ENST00000563261.1_RNA NM_178310.3 NP_840101.1 Q3KNW1 SNAI3_HUMAN snail family zinc finger 3 74 oxidation-reduction process copper ion binding|DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(80;0.048) CTCGATCCGTGGCAGGAGGGG 0.697000 9 32 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75977206 75977206 + Silent SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr15:75977206C>T ENST00000308508.5 - 5 4412 c.4320G>A c.(4318-4320)ctG>ctA p.L1440L NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 1440 Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 AACTGTCTGTCAGTGTCTCGC 0.607000 20 79 0 0 1 0 0 ANKRD26 22852 broad.mit.edu 37 10 27324282 27324282 + Missense_Mutation SNP C C G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr10:27324282C>G ENST00000376087.4 - 24 3262 c.3097G>C c.(3097-3099)Gct>Cct p.A1033P ANKRD26_ENST00000376070.3_Missense_Mutation_p.A590P|ANKRD26_ENST00000436985.2_Missense_Mutation_p.A1049P NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1032 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 CTCTGGAAAGCAAGTTCTAGT 0.368000 9 104 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3228223 3228223 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chrX:3228223G>T ENST00000217939.6 - 7 8175 c.8021C>A c.(8020-8022)cCc>cAc p.P2674H NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2674 Ig-like C2-type 11. extracellular region p.P2674H(2) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CATGCCATTGGGGAGCGTCCA 0.602000 15 96 3.41278e-10 4.9046e-10 1 1 0 ABO 28 broad.mit.edu 37 9 136131529 136131529 + RNA SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr9:136131529C>A ENST00000453660.2 - 0 599 P16442 BGAT_HUMAN ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) AAGCGCCGCTCGCAGAAGTCA 0.647000 5 13 1.23904e-05 1.53283e-05 1 1 0 CNOT1 23019 broad.mit.edu 37 16 58571124 58571124 + Splice_Site SNP T T C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr16:58571124T>C ENST00000317147.5 - 39 5747 c.5414_splice c.e39-1 p.G1805_splice CNOT1_ENST00000245138.4_Splice_Site_p.G656_splice|CNOT1_ENST00000569240.1_Splice_Site_p.G1800_splice NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1805 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) GCTGGGGCAATCTAGCACAAT 0.418000 14 70 0 0 1 0 0 SMAD2 4087 broad.mit.edu 37 18 45374866 45374866 + Missense_Mutation SNP T T G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr18:45374866T>G ENST00000402690.2 - 8 1371 c.977A>C c.(976-978)gAa>gCa p.E326A SMAD2_ENST00000586040.1_Missense_Mutation_p.E296A|SMAD2_ENST00000262160.6_Missense_Mutation_p.E326A|SMAD2_ENST00000356825.4_Missense_Mutation_p.E296A|SMAD2_ENST00000591214.1_Missense_Mutation_p.E296A NM_001003652.3 NP_001003652.1 Q15796 SMAD2_HUMAN SMAD family member 2 326 MH2. anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis activin responsive factor complex|cytosol activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1) 43 TCTTGTCATTTCTACCGTGGC 0.398000 13 83 0 0 1 0 0 CHIAP2 149620 broad.mit.edu 37 1 111824376 111824376 + RNA SNP T T A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:111824376T>A ENST00000369743.4 + 0 260 NR_003928.1 GAAAAACAAGTAAATGACGGA 0.418000 6 48 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 119915261 119915261 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr7:119915261G>T ENST00000331113.4 + 1 1540 c.575G>T c.(574-576)gGg>gTg p.G192V NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 192 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) TATGTCACGGGGTTTTTCATT 0.572000 13 62 9.31168e-06 1.16396e-05 1 1 0 ATP6V0A1 535 broad.mit.edu 37 17 40652822 40652822 + Nonsense_Mutation SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr17:40652822A>T ENST00000343619.4 + 16 1900 c.1777A>T c.(1777-1779)Aag>Tag p.K593* ATP6V0A1_ENST00000585525.1_Nonsense_Mutation_p.K550*|ATP6V0A1_ENST00000546249.1_Nonsense_Mutation_p.K593*|ATP6V0A1_ENST00000544137.1_Nonsense_Mutation_p.K239*|ATP6V0A1_ENST00000537728.1_Nonsense_Mutation_p.K550*|ATP6V0A1_ENST00000393829.2_Nonsense_Mutation_p.K593*|ATP6V0A1_ENST00000264649.6_Nonsense_Mutation_p.K600* NM_001130021.1 NP_001123493.1 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 593 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3) 26 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) TATTTTTTACAAGTGGACGGC 0.383000 14 152 0 0 1 0 0 RANBP17 64901 broad.mit.edu 37 5 170346493 170346493 + Nonsense_Mutation SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr5:170346493C>T ENST00000523189.1 + 11 1314 c.1150C>T c.(1150-1152)Caa>Taa p.Q384* NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 384 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AACTCTGTGGCAAAGGATGGT 0.363000 T TRD@ ALL 8 74 0 0 1 0 0 TUBBP5 643224 broad.mit.edu 37 9 141070125 141070125 + RNA SNP C C T rs10867114 by1000genomes TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr9:141070125C>T ENST00000503395.1 + 0 1205 CGCTCGGGGCCCTTCGGGCAG 0.672000 5 72 0 0 1 0 0 ZFAND3 60685 broad.mit.edu 37 6 38029416 38029416 + Missense_Mutation SNP A A G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr6:38029416A>G ENST00000287218.4 + 3 607 c.160A>G c.(160-162)Aac>Gac p.N54D ZFAND3_ENST00000373391.2_Missense_Mutation_p.N54D NM_021943.2 NP_068762.1 Q9H8U3 ZFAN3_HUMAN zinc finger, AN1-type domain 3 54 DNA binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(2)|ovary(1) 9 AAGTACAAGTAACAGCCAATC 0.443000 6 65 0 0 1 0 0 MAS1 4142 broad.mit.edu 37 6 160328098 160328098 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr6:160328098G>T ENST00000252660.4 + 1 125 c.111G>T c.(109-111)tgG>tgT p.W37C NM_002377.2 NP_002368.1 P04201 MAS_HUMAN MAS1 oncogene 37 anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade integral to plasma membrane angiotensin type II receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06) TCGTGCACTGGGTCATTATGA 0.502000 34 96 7.16923e-06 9.07976e-06 1 1 0 DMD 1756 broad.mit.edu 37 X 32305710 32305710 + Nonsense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chrX:32305710C>A ENST00000357033.4 - 43 6432 c.6226G>T c.(6226-6228)Gaa>Taa p.E2076* DMD_ENST00000378677.2_Nonsense_Mutation_p.E2072* 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 2076 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 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) GAGAGAGCTTCCTGTAGCTTC 0.418000 10 77 5.16669e-11 7.51518e-11 1 1 0 MADD 8567 broad.mit.edu 37 11 47317068 47317068 + Missense_Mutation SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:47317068A>T ENST00000342922.4 + 21 3781 c.3424A>T c.(3424-3426)Atc>Ttc p.I1142F MADD_ENST00000311027.5_Missense_Mutation_p.I1180F|MADD_ENST00000407859.3_Missense_Mutation_p.I1119F|MADD_ENST00000402192.2_Missense_Mutation_p.I1142F|MADD_ENST00000395344.3_Missense_Mutation_p.I1099F|MADD_ENST00000402799.1_Missense_Mutation_p.I1099F|MADD_ENST00000406482.1_Missense_Mutation_p.I1099F|MADD_ENST00000349238.3_Missense_Mutation_p.I1162F|MADD_ENST00000395336.3_Missense_Mutation_p.I1180F|MADD_ENST00000405573.2_5'UTR NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 1180 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) AGACTCTGTCATCGGCGTGAG 0.498000 10 65 0 0 1 0 0 FOXRED1 55572 broad.mit.edu 37 11 126143255 126143255 + Missense_Mutation SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:126143255C>T ENST00000263578.5 + 4 516 c.442C>T c.(442-444)Cct>Tct p.P148S FOXRED1_ENST00000442061.2_5'UTR|FOXRED1_ENST00000532125.1_Missense_Mutation_p.P134S|FOXRED1_ENST00000534011.1_3'UTR NM_017547.3 NP_060017.1 Q96CU9 FXRD1_HUMAN FAD-dependent oxidoreductase domain containing 1 148 integral to membrane|mitochondrion oxidoreductase activity|protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 15 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729) AGTCGATGCTCCTCCCCTGGA 0.552000 13 111 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129903542 129903542 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr10:129903542C>A ENST00000368654.3 - 13 6937 c.6562G>T c.(6562-6564)Gcc>Tcc p.A2188S MKI67_ENST00000368653.3_Missense_Mutation_p.A1828S NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2188 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) AGGGGTTGGGCTTTTCCCTTA 0.483000 33 181 1.30897e-18 2.0668e-18 1 1 0 OR7A17 26333 broad.mit.edu 37 19 14991685 14991685 + Silent SNP T T C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr19:14991685T>C ENST00000327462.2 - 1 579 c.483A>G c.(481-483)ttA>ttG p.L161L NM_030901.1 NP_112163.1 O14581 OR7AH_HUMAN olfactory receptor, family 7, subfamily A, member 17 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Ovarian(108;0.203) ACAATACCATTAAGCTTTGTG 0.478000 24 119 0 0 1 0 0 HTR2C 3358 broad.mit.edu 37 X 113965706 113965706 + Silent SNP G G C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chrX:113965706G>C ENST00000276198.1 + 4 767 c.39G>C c.(37-39)gtG>gtC p.V13V HTR2C_ENST00000371951.1_Silent_p.V13V|HTR2C_ENST00000371950.3_Silent_p.V13V NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 13 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) TTTTCAGTGTGCACCTAATTG 0.363000 8 105 0 0 1 0 0 IRF6 3664 broad.mit.edu 37 1 209964079 209964079 + Missense_Mutation SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:209964079A>T ENST00000367021.3 - 7 993 c.821T>A c.(820-822)gTc>gAc p.V274D IRF6_ENST00000542854.1_Missense_Mutation_p.V179D NM_006147.3 NP_006138.1 O14896 IRF6_HUMAN interferon regulatory factor 6 274 V -> I (common polymorphism; 3% in European-descended and 22% in Asian populations; responsible for 12% of the genetic contribution to cleft lip or palate; tripled the risk of recurrence in families that already had 1 affected child; dbSNP:rs2235371). cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) TGGGAATTTGACCTGCTCCAG 0.567000 HNSCC(57;0.16) 16 66 0 0 1 0 0 PCMTD1 115294 broad.mit.edu 37 8 52732935 52732935 + Nonsense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:52732935G>T ENST00000360540.5 - 7 1456 c.1050C>A c.(1048-1050)taC>taA p.Y350* PCMTD1_ENST00000544451.1_Nonsense_Mutation_p.Y274*|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Nonsense_Mutation_p.Y350* NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 350 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) AATATGTCAAGTAAGCTTTTA 0.338000 7 62 0.307466 0.31005 1 1 0 IGKV1D-12 28903 broad.mit.edu 37 2 90198980 90198980 + RNA SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:90198980G>T ENST00000390276.2 + 0 322 CTTGTCGGGCGAGTCAGGGTA 0.517000 10 122 4.36969e-10 6.24242e-10 1 1 0 CENPE 1062 broad.mit.edu 37 4 104103946 104103946 + Silent SNP A A G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr4:104103946A>G ENST00000265148.3 - 11 1025 c.936T>C c.(934-936)tcT>tcC p.S312S CENPE_ENST00000380026.3_Silent_p.S312S NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 312 Kinesin-motor. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TTTCATCAAAAGATACTGGAG 0.353000 10 49 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31434963 31434963 + Silent SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr16:31434963C>A ENST00000389202.2 + 26 3088 c.3039C>A c.(3037-3039)ccC>ccA p.P1013P NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 1013 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 CAAGAAGTCCCATGCTGGTGA 0.537000 11 76 0.00829132 0.00886377 1 1 0 MARCH1 55016 broad.mit.edu 37 4 164534487 164534487 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr4:164534487G>T ENST00000503008.1 - 5 1197 c.221C>A c.(220-222)cCa>cAa p.P74Q MARCH1_ENST00000339875.5_Missense_Mutation_p.P57Q|MARCH1_ENST00000514618.1_Missense_Mutation_p.P74Q|MARCH1_ENST00000274056.7_Missense_Mutation_p.P74Q NM_001166373.1 NP_001159845.1 Q8TCQ1 MARH1_HUMAN membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 74 antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CTGAGTGGATGGACAGACAGA 0.418000 15 53 0.000308642 0.000356125 1 1 0 RIMS2 9699 broad.mit.edu 37 8 105160931 105160931 + Silent SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:105160931G>A ENST00000436393.2 + 23 3484 c.3243G>A c.(3241-3243)gaG>gaA p.E1081E RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 509 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GCTCACTGGAGAAGAATGATG 0.498000 HNSCC(12;0.0054) 7 59 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79323521 79323521 + Silent SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr9:79323521G>T ENST00000428286.1 - 8 3792 c.2592C>A c.(2590-2592)gtC>gtA p.V864V PRUNE2_ENST00000376718.3_Silent_p.V1223V Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1223 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TATCTCTCATGACAGAATCCC 0.448000 7 34 8.12818e-05 9.70529e-05 1 1 0 PGK2 5232 broad.mit.edu 37 6 49754625 49754625 + Silent SNP A A G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr6:49754625A>G ENST00000304801.3 - 1 428 c.276T>C c.(274-276)gaT>gaC p.D92D NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 92 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) GGAACAGAACATCCTTGCCCA 0.512000 20 116 0 0 1 0 0 TUBGCP3 10426 broad.mit.edu 37 13 113158417 113158417 + Missense_Mutation SNP G G C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr13:113158417G>C ENST00000261965.3 - 19 2422 c.2236C>G c.(2236-2238)Cac>Gac p.H746D TUBGCP3_ENST00000375669.3_Missense_Mutation_p.H746D NM_006322.4 NP_006313.1 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 746 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1) 25 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) GCAATGATGTGATCCAAATCC 0.483000 18 78 0 0 1 0 0 TAX1BP1 8887 broad.mit.edu 37 7 27831727 27831727 + Missense_Mutation SNP G G C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr7:27831727G>C ENST00000396319.2 + 9 1229 c.1141G>C c.(1141-1143)Gtc>Ctc p.V381L TAX1BP1_ENST00000409980.1_Missense_Mutation_p.V381L|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.V381L|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.V381L|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.V224L NM_006024.6 NP_006015.4 Q86VP1 TAXB1_HUMAN Tax1 (human T-cell leukemia virus type I) binding protein 1 381 Oligomerization. anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production cytosol identical protein binding|kinase binding|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(3;0.0823) CAGTGATGCTGTCAACGTACG 0.443000 10 64 0 0 1 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43531527 43531527 + Missense_Mutation SNP A A G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr17:43531527A>G ENST00000430334.3 - 7 1824 c.1691T>C c.(1690-1692)cTc>cCc p.L564P AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.L475P NM_014798.2 NP_055613.1 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 1 564 PH 1. intracellular signal transduction cytoplasm metal ion binding breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) GCTCAGGTAGAGGCGGAACTC 0.632000 5 30 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41906267 41906267 + Missense_Mutation SNP G G C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:41906267G>C ENST00000396930.3 - 3 772 c.229C>G c.(229-231)Cct>Gct p.P77A KAT6A_ENST00000406337.1_Missense_Mutation_p.P77A|KAT6A_ENST00000265713.2_Missense_Mutation_p.P77A|KAT6A_ENST00000485568.1_Missense_Mutation_p.P77A NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 77 Required for activation of RUNX1-1.|Required for nuclear localization. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ATTCGCCCAGGATTATCAGGA 0.363000 26 187 0 0 1 0 0 GAS2 2620 broad.mit.edu 37 11 22833489 22833489 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:22833489C>A ENST00000454584.2 + 8 1174 c.869C>A c.(868-870)aCt>aAt p.T290N GAS2_ENST00000278187.3_Missense_Mutation_p.T290N|GAS2_ENST00000433790.1_Missense_Mutation_p.T290N NM_001143830.1 NP_001137302.1 O43903 GAS2_HUMAN growth arrest-specific 2 290 cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1) 24 AAATCTCCAACTCTAAAGGAC 0.448000 15 63 1.15088e-07 1.55174e-07 1 1 0 LIMA1 51474 broad.mit.edu 37 12 50598413 50598413 + Silent SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr12:50598413G>T ENST00000341247.4 - 6 935 c.786C>A c.(784-786)ctC>ctA p.L262L LIMA1_ENST00000552909.1_Silent_p.L102L|LIMA1_ENST00000552823.1_Silent_p.L102L|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000394943.3_Silent_p.L262L|LIMA1_ENST00000552783.1_Silent_p.L102L NM_001113546.1|NM_016357.4 NP_001107018.1|NP_057441.1 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 262 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2) 44 AGGTTTCTGAGAGGCGTGGAA 0.413000 22 57 5.26018e-13 7.99014e-13 1 1 0 RYR2 6262 broad.mit.edu 37 1 237732581 237732581 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:237732581G>T ENST00000366574.2 + 29 3877 c.3560G>T c.(3559-3561)gGc>gTc p.G1187V RYR2_ENST00000542537.1_Missense_Mutation_p.G1171V|RYR2_ENST00000360064.6_Missense_Mutation_p.G1185V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1187 4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GATGATTCAGGCTCAGAACTG 0.443000 4 31 0.00909568 0.00963781 1 1 0 POLR2B 5431 broad.mit.edu 37 4 57861554 57861554 + Missense_Mutation SNP C C G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr4:57861554C>G ENST00000381227.1 + 7 1127 c.714C>G c.(712-714)agC>agG p.S238R POLR2B_ENST00000431623.2_Missense_Mutation_p.S163R|POLR2B_ENST00000314595.5_Missense_Mutation_p.S238R|POLR2B_ENST00000441246.2_Missense_Mutation_p.S231R P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 238 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 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) TATGGGTTAGCATGCTGGCAA 0.403000 19 84 0 0 1 0 0 ZAP70 7535 broad.mit.edu 37 2 98351725 98351725 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:98351725C>A ENST00000264972.5 + 10 1310 c.1095C>A c.(1093-1095)gaC>gaA p.D365E ZAP70_ENST00000451498.2_Missense_Mutation_p.D58E|ZAP70_ENST00000442208.1_Missense_Mutation_p.D239E|ZAP70_ENST00000463643.1_3'UTR NM_001079.3 NP_001070.2 P43403 ZAP70_HUMAN zeta-chain (TCR) associated protein kinase 70kDa 365 Protein kinase. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 AGCAGATCGACGTGGCCATCA 0.667000 12 73 5.16669e-11 7.51518e-11 1 1 0 GALNT8 26290 broad.mit.edu 37 12 4855345 4855345 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr12:4855345G>T ENST00000252318.2 + 6 1431 c.1094G>T c.(1093-1095)aGg>aTg p.R365M NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 365 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 GCTGCTAACAGGCACTTCCTG 0.537000 10 69 2.17888e-05 2.67484e-05 1 1 0 USH2A 7399 broad.mit.edu 37 1 216373051 216373051 + Silent SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:216373051G>A ENST00000366943.2 - 17 4115 c.3729C>T c.(3727-3729)ccC>ccT p.P1243P USH2A_ENST00000307340.3_Silent_p.P1243P|USH2A_ENST00000366942.3_Silent_p.P1243P|RP5-1099E6.3_ENST00000420867.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1243 Fibronectin type-III 3. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTAGTCTTTGGGGAGGGGCCT 0.483000 HNSCC(13;0.011) 16 58 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 36046592 36046592 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr13:36046592G>T ENST00000540320.1 + 41 7038 c.6504G>T c.(6502-6504)aaG>aaT p.K2168N NBEA_ENST00000379939.2_Missense_Mutation_p.K2165N|NBEA_ENST00000310336.4_Missense_Mutation_p.K2168N|NBEA_ENST00000400445.3_Missense_Mutation_p.K2168N Q8NFP9 NBEA_HUMAN neurobeachin 2168 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TGGTGGCCAAGGGGACTCTCT 0.567000 4 26 1 1 1 1 0 ROBO2 6092 broad.mit.edu 37 3 77623698 77623698 + Nonsense_Mutation SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr3:77623698C>T ENST00000461745.1 + 14 2920 c.2020C>T c.(2020-2022)Cag>Tag p.Q674* ROBO2_ENST00000332191.8_Nonsense_Mutation_p.Q674*|ROBO2_ENST00000487694.3_Nonsense_Mutation_p.Q690* NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 674 Fibronectin type-III 2. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GATGTATCGTCAGACTTCAGG 0.448000 7 63 0 0 1 0 0 IGHV1-18 28468 broad.mit.edu 37 14 106641567 106641567 + RNA SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr14:106641567G>A ENST00000390605.2 - 0 405 TGTGTCTCTCGCACAGTAATA 0.532000 40 181 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58615251 58615251 + Nonsense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr16:58615251G>A ENST00000317147.5 - 11 1545 c.1213C>T c.(1213-1215)Cag>Tag p.Q405* CNOT1_ENST00000569240.1_Nonsense_Mutation_p.Q405*|CNOT1_ENST00000441024.2_Nonsense_Mutation_p.Q405* NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 405 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TTACTCACCTGGCCTTCAGCA 0.388000 8 49 0 0 1 0 0 MPDZ 8777 broad.mit.edu 37 9 13168519 13168519 + Nonsense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr9:13168519G>A ENST00000319217.7 - 22 3347 c.3100C>T c.(3100-3102)Cga>Tga p.R1034* MPDZ_ENST00000381022.2_Nonsense_Mutation_p.R1034*|MPDZ_ENST00000541718.1_Nonsense_Mutation_p.R1034*|MPDZ_ENST00000381015.4_Nonsense_Mutation_p.R1034*|MPDZ_ENST00000447879.1_Nonsense_Mutation_p.R1034*|MPDZ_ENST00000536827.1_Nonsense_Mutation_p.R1034*|MPDZ_ENST00000546205.1_Nonsense_Mutation_p.R1034* NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 1034 PDZ 6. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) ATAATGCTTCGAACGATCATC 0.383000 34 144 0 0 1 0 0 KIAA0226 9711 broad.mit.edu 37 3 197430434 197430434 + Silent SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr3:197430434C>T ENST00000273582.5 - 5 920 c.375G>A c.(373-375)caG>caA p.Q125Q KIAA0226_ENST00000389665.5_Silent_p.Q185Q|KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000449205.1_Silent_p.Q185Q|KIAA0226_ENST00000296343.5_Silent_p.Q185Q NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 185 RUN. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) ACGCATCGATCTGAGCCAGGA 0.557000 8 33 0 0 1 0 0 SUSD2 56241 broad.mit.edu 37 22 24584390 24584390 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr22:24584390G>T ENST00000358321.3 + 15 2716 c.2455G>T c.(2455-2457)Ggt>Tgt p.G819C NM_019601.3 NP_062547.1 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 819 immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 GCACGTCTGGGGTGCACAGCC 0.637000 10 43 3.07112e-06 3.94154e-06 1 1 0 ARHGEF17 9828 broad.mit.edu 37 11 73022702 73022702 + Missense_Mutation SNP A A G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:73022702A>G ENST00000263674.3 + 1 3369 c.3019A>G c.(3019-3021)Acc>Gcc p.T1007A NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1007 Pro-rich. actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 CGAGGACGTCACCAAGCAGTA 0.637000 9 59 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179596221 179596221 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:179596221G>A ENST00000589042.1 - 59 17496 c.17272C>T c.(17272-17274)Cca>Tca p.P5758S TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P4514S|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P5441S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5441 Ig-like 38. 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) ACCGTAATTGGCAAGGAGCCC 0.488000 10 70 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151075070 151075070 + Missense_Mutation SNP A A G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr3:151075070A>G ENST00000474524.1 + 18 2664 c.2626A>G c.(2626-2628)Aca>Gca p.T876A MED12L_ENST00000273432.4_Missense_Mutation_p.T736A|MED12L_ENST00000491549.1_3'UTR|P2RY12_ENST00000302632.3_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 876 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGGAAGTTATACAACAGGACT 0.453000 8 56 0 0 1 0 0 SLC4A3 6508 broad.mit.edu 37 2 220503474 220503474 + Nonsense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:220503474C>A ENST00000358055.3 + 19 3418 c.2906C>A c.(2905-2907)tCg>tAg p.S969* SLC4A3_ENST00000273063.6_Nonsense_Mutation_p.S996*|SLC4A3_ENST00000317151.3_Nonsense_Mutation_p.S969*|SLC4A3_ENST00000373760.2_Nonsense_Mutation_p.S969*|SLC4A3_ENST00000373762.3_Nonsense_Mutation_p.S996* P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 969 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GATAAGCGCTCGTGGTTCATC 0.602000 5 47 0.000602214 0.000684983 1 1 0 PLEC 5339 broad.mit.edu 37 8 144994826 144994826 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:144994826C>A ENST00000322810.4 - 32 9743 c.9574G>T c.(9574-9576)Gtg>Ttg p.V3192L PLEC_ENST00000354589.3_Missense_Mutation_p.V3055L|PLEC_ENST00000398774.2_Missense_Mutation_p.V3023L|PLEC_ENST00000356346.3_Missense_Mutation_p.V3041L|PLEC_ENST00000345136.3_Missense_Mutation_p.V3055L|PLEC_ENST00000357649.2_Missense_Mutation_p.V3059L|PLEC_ENST00000354958.2_Missense_Mutation_p.V3033L|PLEC_ENST00000527096.1_Missense_Mutation_p.V3078L|PLEC_ENST00000436759.2_Missense_Mutation_p.V3082L NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3192 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle 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 AACAGGGCCACGGCCATGTCG 0.667000 16 53 4.7546e-09 6.71238e-09 1 1 0 KRTAP1-3 81850 broad.mit.edu 37 17 39190602 39190602 + Missense_Mutation SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr17:39190602A>T ENST00000344363.5 - 1 505 c.472T>A c.(472-474)Tgc>Agc p.C158S NM_030966.1 NP_112228.1 Q8IUG1 KRA13_HUMAN keratin associated protein 1-3 168 extracellular region|keratin filament structural constituent of epidermis cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6) 12 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TAGCAGCAGCAGACTGGGCGG 0.542000 4 38 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10921973 10921973 + Silent SNP A A G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr21:10921973A>G ENST00000298232.7 - 17 1363 c.996T>C c.(994-996)tgT>tgC p.C332C TPTE_ENST00000342420.5_Silent_p.C312C|TPTE_ENST00000361285.4_Silent_p.C350C|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 350 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TAAGGAAGGCACAAACCATAG 0.333000 8 99 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155510605 155510605 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr4:155510605C>A ENST00000302053.3 - 2 242 c.164G>T c.(163-165)tGc>tTc p.C55F FGA_ENST00000403106.3_Missense_Mutation_p.C55F NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 55 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TTCATCAGAGCAGAAGGGCCA 0.547000 9 71 3.86212e-05 4.65783e-05 1 1 0 NPHP4 261734 broad.mit.edu 37 1 5924047 5924047 + Missense_Mutation SNP T T A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:5924047T>A ENST00000378156.4 - 29 4308 c.4043A>T c.(4042-4044)aAg>aTg p.K1348M NPHP4_ENST00000478423.2_5'UTR NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephronophthisis 4 1348 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) GGTGATCCTCTTGTTGACACC 0.627000 5 22 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130284290 130284290 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr3:130284290G>A ENST00000358511.6 + 3 1145 c.1114G>A c.(1114-1116)Gac>Aac p.D372N COL6A6_ENST00000453409.2_Missense_Mutation_p.D372N NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 372 Nonhelical region.|VWFA 2. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GGGCGCCAGCGACACCCAGTT 0.542000 19 116 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120476201 120476201 + Nonsense_Mutation SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr9:120476201C>T ENST00000355622.6 + 3 1896 c.1795C>T c.(1795-1797)Cag>Tag p.Q599* TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Nonsense_Mutation_p.Q559* NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 599 LRRCT. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 GGACCAGAGGCAGCTCTTGGT 0.433000 12 44 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228509158 228509158 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:228509158G>T ENST00000570156.2 + 66 17561 c.17487G>T c.(17485-17487)atG>atT p.M5829I OBSCN_ENST00000366709.4_Missense_Mutation_p.M1991I|OBSCN_ENST00000366707.4_Missense_Mutation_p.M2506I|OBSCN_ENST00000284548.11_Missense_Mutation_p.M4872I|OBSCN_ENST00000422127.1_Missense_Mutation_p.M4872I NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4872 DH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) ATCCCTCAATGGACAAGGCAG 0.597000 3 12 1 1 1 1 0 LRRC7 57554 broad.mit.edu 37 1 70303923 70303923 + Missense_Mutation SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:70303923C>T ENST00000310961.5 + 8 923 c.505C>T c.(505-507)Cgg>Tgg p.R169W LRRC7_ENST00000035383.5_Missense_Mutation_p.R164W|LRRC7_ENST00000370958.1_Missense_Mutation_p.R202W|LRRC7_ENST00000415775.2_5'UTR Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 164 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 TGTCAAATTGCGGATCTTGGA 0.299000 3 25 0 0 1 0 0 CNN1 1264 broad.mit.edu 37 19 11660568 11660568 + Silent SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr19:11660568C>A ENST00000592923.1 + 8 1279 c.702C>A c.(700-702)ccC>ccA p.P234P CNN1_ENST00000535659.2_Silent_p.P234P|CNN1_ENST00000252456.2_Silent_p.P284P|CNN1_ENST00000544952.1_Silent_p.P264P P51911 CNN1_HUMAN calponin 1, basic, smooth muscle 284 actomyosin structure organization|regulation of smooth muscle contraction cytoskeleton actin binding|calmodulin binding breast(1)|endometrium(2)|large_intestine(4)|lung(2) 9 TGGGTGAGCCCGCCCACAACC 0.632000 15 78 0.00400662 0.00438082 1 1 0 FRMPD1 22844 broad.mit.edu 37 9 37746084 37746084 + Missense_Mutation SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr9:37746084A>T ENST00000539465.1 + 16 4648 c.4055A>T c.(4054-4056)gAg>gTg p.E1352V FRMPD1_ENST00000377765.3_Missense_Mutation_p.E1352V|RP11-613M10.9_ENST00000540557.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1352 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) CCTGAGACAGAGGAAGAAGAC 0.637000 38 179 0 0 1 0 0 APCDD1L 164284 broad.mit.edu 37 20 57036136 57036136 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr20:57036136G>A ENST00000371149.3 - 4 1446 c.1216C>T c.(1216-1218)Ctc>Ttc p.L406F APCDD1L_ENST00000439429.1_Missense_Mutation_p.L417F NM_153360.1 NP_699191.1 Q8NCL9 APCDL_HUMAN adenomatosis polyposis coli down-regulated 1-like 406 integral to membrane large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1) 18 Lung NSC(12;0.000856)|all_lung(29;0.0025) BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06) ACATGCGGGAGCCGGATGCCC 0.627000 24 94 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100155213 100155213 + Missense_Mutation SNP C C G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:100155213C>G ENST00000395996.1 + 13 1774 c.1663C>G c.(1663-1665)Caa>Gaa p.Q555E VPS13B_ENST00000355155.1_Missense_Mutation_p.Q555E|VPS13B_ENST00000358544.2_Missense_Mutation_p.Q555E|VPS13B_ENST00000357162.2_Missense_Mutation_p.Q555E Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 555 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TTCCACAAATCAACAAGACTT 0.328000 8 46 0 0 1 0 0 STIM2 57620 broad.mit.edu 37 4 26997038 26997038 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr4:26997038G>T ENST00000382009.3 + 4 963 c.696G>T c.(694-696)ttG>ttT p.L232F STIM2_ENST00000467011.1_Missense_Mutation_p.L145F|STIM2_ENST00000467087.1_Missense_Mutation_p.L145F|STIM2_ENST00000237364.5_Missense_Mutation_p.L232F|STIM2_ENST00000465503.1_Missense_Mutation_p.L145F|STIM2_ENST00000412829.2_Missense_Mutation_p.L232F NM_001169118.1 NP_001162589.1 Q9P246 STIM2_HUMAN stromal interaction molecule 2 145 activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 25 Breast(46;0.0503) TTCAGTGGTTGATAGAGTTTG 0.368000 18 106 8.28177e-16 1.29067e-15 1 1 0 IGF2R 3482 broad.mit.edu 37 6 160454099 160454099 + Missense_Mutation SNP C C G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr6:160454099C>G ENST00000356956.1 + 9 1319 c.1171C>G c.(1171-1173)Caa>Gaa p.Q391E NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 391 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) CGATACCTCTCAAGTCAAAGC 0.388000 13 41 0 0 1 0 0 S1PR1 1901 broad.mit.edu 37 1 101704876 101704876 + Silent SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:101704876C>A ENST00000305352.6 + 2 711 c.336C>A c.(334-336)ctC>ctA p.L112L S1PR1_ENST00000475821.1_3'UTR NM_001400.4 NP_001391.2 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 112 cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43 CCTACAAGCTCACTCCCGCCC 0.547000 OREG0013620 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 91 0.00909568 0.00963781 1 1 0 CCDC91 55297 broad.mit.edu 37 12 28603157 28603157 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr12:28603157G>T ENST00000545336.1 + 12 1245 c.826G>T c.(826-828)Gct>Tct p.A276S CCDC91_ENST00000381256.1_Missense_Mutation_p.A240S|CCDC91_ENST00000306172.5_Missense_Mutation_p.A246S|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381259.1_Missense_Mutation_p.A276S|CCDC91_ENST00000539107.1_Missense_Mutation_p.A240S Q7Z6B0 CCD91_HUMAN coiled-coil domain containing 91 276 Homodimerization. protein transport Golgi apparatus|membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1) 22 Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184) AATAAAGGAAGCTTTGATTCA 0.338000 11 65 0.010729 0.0113185 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113317058 113317058 + Missense_Mutation SNP T T C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:113317058T>C ENST00000297405.5 - 52 8402 c.8158A>G c.(8158-8160)Aaa>Gaa p.K2720E CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.K2680E|CSMD3_ENST00000352409.3_Missense_Mutation_p.K2650E NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2720 Sushi 16. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AAAACTACTTTGGTTTTGTAT 0.403000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 6 59 0 0 1 0 0 TFAP2D 83741 broad.mit.edu 37 6 50683058 50683058 + Missense_Mutation SNP A A G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr6:50683058A>G ENST00000008391.3 + 2 497 c.269A>G c.(268-270)tAc>tGc p.Y90C NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 90 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) CCCGACGCCTACTCTCTGAAC 0.592000 22 88 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186076022 186076022 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:186076022G>A ENST00000271588.4 + 70 11006 c.10777G>A c.(10777-10779)Gat>Aat p.D3593N HMCN1_ENST00000367492.2_Missense_Mutation_p.D3593N NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3593 Ig-like C2-type 34. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GTAGGTGGAGGATACAGGAAG 0.338000 12 120 0 0 1 0 0 DNAJC28 54943 broad.mit.edu 37 21 34861694 34861694 + Missense_Mutation SNP T T C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr21:34861694T>C ENST00000314399.3 - 2 445 c.7A>G c.(7-9)Aca>Gca p.T3A DNAJC28_ENST00000402202.1_Missense_Mutation_p.T3A|DNAJC28_ENST00000381947.3_Missense_Mutation_p.T3A NM_017833.3 NP_060303.2 Q9NX36 DJC28_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 28 3 heat shock protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1) 18 ACATACATTGTATTCATTATT 0.328000 10 70 0 0 1 0 0 NCOA1 8648 broad.mit.edu 37 2 24929506 24929506 + Silent SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:24929506G>T ENST00000405141.1 + 14 1878 c.1167G>T c.(1165-1167)tcG>tcT p.S389S NCOA1_ENST00000288599.5_Silent_p.S389S|NCOA1_ENST00000348332.3_Silent_p.S389S|NCOA1_ENST00000407230.1_Silent_p.S238S|NCOA1_ENST00000406961.1_Silent_p.S389S|NCOA1_ENST00000395856.3_Silent_p.S389S|NCOA1_ENST00000538539.1_Silent_p.S389S Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 389 Interaction with STAT3.|Ser-rich. PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TAAATCCCTCGGTCAATCCTA 0.468000 T PAX3 alveolar rhadomyosarcoma 10 64 0.000673444 0.000764192 1 1 0 ROR1 4919 broad.mit.edu 37 1 64643225 64643225 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:64643225C>A ENST00000371079.1 + 9 1876 c.1501C>A c.(1501-1503)Cag>Aag p.Q501K ROR1_ENST00000545203.1_5'UTR NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 501 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 GGACCATGCTCAGCTGGTTGC 0.473000 32 285 6.05902e-23 9.75949e-23 1 1 0 MUC16 94025 broad.mit.edu 37 19 9069056 9069056 + Silent SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr19:9069056G>T ENST00000397910.4 - 3 18593 c.18390C>A c.(18388-18390)tcC>tcA p.S6130S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6132 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AAATGTCTGGGGACTTTGTTG 0.507000 8 38 5.18039e-06 6.59572e-06 1 1 0 XAGE3 170626 broad.mit.edu 37 X 52893883 52893883 + Silent SNP A A C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chrX:52893883A>C ENST00000346279.3 - 4 304 c.234T>G c.(232-234)acT>acG p.T78T XAGE3_ENST00000375491.3_Silent_p.T78T NM_133179.2 NP_573440.1 Q8WTP9 GAGD4_HUMAN X antigen family, member 3 78 kidney(1)|large_intestine(1)|lung(2) 4 ATTCACCCCCAGTCTTTGACT 0.423000 13 66 0 0 1 0 0 MYRF 745 broad.mit.edu 37 11 61541455 61541455 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:61541455C>A ENST00000278836.5 + 8 1228 c.1132C>A c.(1132-1134)Cgc>Agc p.R378S MYRF_ENST00000265460.5_Missense_Mutation_p.R369S|TMEM258_ENST00000535042.1_5'UTR|MYRF_ENST00000327797.1_Missense_Mutation_p.R5S NM_001127392.1 NP_001120864.1 myelin regulatory factor GCTCACCTACCGCGTGGATGC 0.617000 5 41 0.014758 0.015333 1 1 0 WWC1 23286 broad.mit.edu 37 5 167850627 167850627 + Missense_Mutation SNP A A G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr5:167850627A>G ENST00000265293.4 + 11 1866 c.1364A>G c.(1363-1365)gAc>gGc p.D455G WWC1_ENST00000521089.1_Missense_Mutation_p.D455G NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 455 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) TCCAGCCTGGACTCCTCCACT 0.617000 18 111 0 0 1 0 0 POLR3A 11128 broad.mit.edu 37 10 79737343 79737343 + Nonsense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr10:79737343C>A ENST00000372371.3 - 31 4203 c.4066G>T c.(4066-4068)Gga>Tga p.G1356* NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 1356 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 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) AGCCCGGTTCCAATGTTCATT 0.498000 22 106 1.96292e-10 2.82944e-10 1 1 0 FBN3 84467 broad.mit.edu 37 19 8152786 8152786 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr19:8152786C>A ENST00000600128.1 - 53 6956 c.6542G>T c.(6541-6543)tGc>tTc p.C2181F FBN3_ENST00000270509.2_Missense_Mutation_p.C2181F|FBN3_ENST00000601739.1_Missense_Mutation_p.C2181F Q75N90 FBN3_HUMAN fibrillin 3 2181 EGF-like 35; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GGTATTGTGGCAGCGGAAGGC 0.627000 12 84 3.07112e-06 3.94154e-06 1 1 0 DLGAP4 22839 broad.mit.edu 37 20 35060543 35060543 + Silent SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr20:35060543C>T ENST00000373913.3 + 3 903 c.423C>T c.(421-423)caC>caT p.H141H DLGAP4_ENST00000339266.5_Silent_p.H141H|DLGAP4_ENST00000401952.2_Silent_p.H141H|DLGAP4_ENST00000373907.2_Silent_p.H141H Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 141 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) GCATCCGCCACCTGGTCCACT 0.637000 12 76 0 0 1 0 0 GRIK4 2900 broad.mit.edu 37 11 120702730 120702730 + Silent SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:120702730C>A ENST00000527524.2 + 7 968 c.681C>A c.(679-681)atC>atA p.I227I GRIK4_ENST00000438375.2_Silent_p.I227I Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 227 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) CCCACACCATCCTCCTGAAGG 0.657000 17 74 8.00594e-06 1.01128e-05 1 1 0 SI 6476 broad.mit.edu 37 3 164776961 164776961 + Missense_Mutation SNP T T C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr3:164776961T>C ENST00000264382.3 - 11 1335 c.1273A>G c.(1273-1275)Atc>Gtc p.I425V NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 425 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ATTACCAAGATGATGACATAT 0.338000 HNSCC(35;0.089) 6 38 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21755910 21755910 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr5:21755910G>A ENST00000382254.1 - 14 2761 c.1675C>T c.(1675-1677)Cgc>Tgc p.R559C CDH12_ENST00000522262.1_Missense_Mutation_p.R519C|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.R559C NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 559 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TGCTGCCTGCGGCTGTATCCA 0.428000 HNSCC(59;0.17) 18 63 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235969330 235969330 + Missense_Mutation SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:235969330C>T ENST00000389794.3 - 6 3280 c.3106G>A c.(3106-3108)Gaa>Aaa p.E1036K LYST_ENST00000536965.1_Missense_Mutation_p.E1036K|LYST_ENST00000389793.2_Missense_Mutation_p.E1036K Q99698 LYST_HUMAN lysosomal trafficking regulator 1036 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) AATAAATCTTCCTTCATAGTT 0.358000 7 96 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75823356 75823356 + Missense_Mutation SNP T T A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr6:75823356T>A ENST00000322507.8 - 50 8111 c.7802A>T c.(7801-7803)gAc>gTc p.D2601V COL12A1_ENST00000345356.6_Missense_Mutation_p.D1437V|COL12A1_ENST00000416123.2_Missense_Mutation_p.D2601V|COL12A1_ENST00000483888.2_Missense_Mutation_p.D2601V NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2601 Nonhelical region (NC3).|TSP N-terminal. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 GTAGTCTCTGTCTGTGATTTG 0.373000 11 77 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228509157 228509157 + Missense_Mutation SNP T T A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:228509157T>A ENST00000570156.2 + 66 17560 c.17486T>A c.(17485-17487)aTg>aAg p.M5829K OBSCN_ENST00000366709.4_Missense_Mutation_p.M1991K|OBSCN_ENST00000366707.4_Missense_Mutation_p.M2506K|OBSCN_ENST00000284548.11_Missense_Mutation_p.M4872K|OBSCN_ENST00000422127.1_Missense_Mutation_p.M4872K NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4872 DH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GATCCCTCAATGGACAAGGCA 0.597000 3 12 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8737757 8737757 + Missense_Mutation SNP G G T rs148288081 TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr20:8737757G>T ENST00000378641.3 + 24 3063 c.2588G>T c.(2587-2589)gGg>gTg p.G863V PLCB1_ENST00000338037.6_Missense_Mutation_p.G863V|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.G863V NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 863 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 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 GCAGAAAATGGGGTGAATCAC 0.493000 7 74 5.18039e-06 6.59572e-06 1 1 0 CST4 1472 broad.mit.edu 37 20 23667808 23667808 + Missense_Mutation SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr20:23667808C>T ENST00000217423.3 - 2 329 c.259G>A c.(259-261)Gta>Ata p.V87I NM_001899.2 NP_001890.1 P01036 CYTS_HUMAN cystatin S 87 extracellular region cysteine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 16 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) CCCACCTCTACGTCGAAGAAG 0.552000 36 134 0 0 1 0 0 DLX5 1749 broad.mit.edu 37 7 96651579 96651579 + Missense_Mutation SNP T T C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr7:96651579T>C ENST00000222598.4 - 2 931 c.458A>G c.(457-459)cAg>cGg p.Q153R DLX5_ENST00000493764.1_5'UTR|DLX5_ENST00000486603.2_Missense_Mutation_p.Q153R NM_005221.5 NP_005212.1 P56178 DLX5_HUMAN distal-less homeobox 5 153 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1) 20 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) AAACCTTCTCTGTAATGCGGC 0.527000 22 113 0 0 1 0 0 RGR 5995 broad.mit.edu 37 10 86014178 86014178 + Silent SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr10:86014178G>T ENST00000359452.4 + 5 659 c.621G>T c.(619-621)ctG>ctT p.L207L RGR_ENST00000358110.5_Silent_p.L203L NM_001012720.1|NM_002921.3 NP_001012738.1|NP_002912.2 P47804 RGR_HUMAN retinal G protein coupled receptor 203 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 17 AGCAGAAACTGGGGAAGAGTG 0.522000 10 58 3.86212e-05 4.65783e-05 1 1 0 KIAA1210 57481 broad.mit.edu 37 X 118221392 118221392 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chrX:118221392C>A ENST00000402510.2 - 11 3800 c.3801G>T c.(3799-3801)agG>agT p.R1267S NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 1267 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 GGTCTTCAGGCCTCCCCAAGG 0.488000 5 38 1.23904e-05 1.53283e-05 1 1 0 CCDC73 493860 broad.mit.edu 37 11 32635143 32635143 + Silent SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:32635143G>A ENST00000335185.5 - 16 2764 c.2721C>T c.(2719-2721)ccC>ccT p.P907P NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 907 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) ACCAAGGACCGGGGTCTGAAA 0.408000 22 157 0 0 1 0 0 ESRP2 80004 broad.mit.edu 37 16 68265157 68265157 + Silent SNP T T G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr16:68265157T>G ENST00000473183.2 - 12 2173 c.1635A>C c.(1633-1635)acA>acC p.T545T ESRP2_ENST00000565858.1_Silent_p.T555T Q9H6T0 ESRP2_HUMAN epithelial splicing regulatory protein 2 555 RRM 3. mRNA processing|regulation of RNA splicing|RNA splicing nucleus mRNA binding|nucleotide binding NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 16 TCATCTCCTCTGTGGAACAGG 0.612000 5 57 0 0 1 0 0 ZFP1 162239 broad.mit.edu 37 16 75204189 75204189 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr16:75204189G>T ENST00000393430.2 + 4 1305 c.1181G>T c.(1180-1182)cGa>cTa p.R394L ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000570010.1_Missense_Mutation_p.R394L|ZFP1_ENST00000332307.4_Missense_Mutation_p.R361L|ZFP1_ENST00000464850.1_3'UTR Q6P2D0 ZFP1_HUMAN ZFP1 zinc finger protein 394 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 12 AGGAAGTCCCGACTCAGTGTC 0.498000 7 58 0.00307968 0.00339047 1 1 0 TRGV3 6976 broad.mit.edu 37 7 38398336 38398336 + RNA SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr7:38398336G>T ENST00000390346.2 - 0 313 ATTTGTTACAGTAAGATCGCA 0.507000 24 90 9.95505e-16 1.54642e-15 1 1 0 RERG 85004 broad.mit.edu 37 12 15262139 15262139 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr12:15262139G>T ENST00000256953.2 - 5 841 c.505C>A c.(505-507)Cgc>Agc p.R169S RERG_ENST00000536465.1_Missense_Mutation_p.R169S|RERG_ENST00000538313.1_Missense_Mutation_p.R169S|RERG_ENST00000546331.1_Missense_Mutation_p.R150S NM_032918.2 NP_116307.1 Q96A58 RERG_HUMAN RAS-like, estrogen-regulated, growth inhibitor 169 Poly-Arg. negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction cytosol|membrane|nucleus estrogen receptor binding|GDP binding|GTP binding|GTPase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 ATCCTCCGGCGACGCACCTCT 0.527000 39 119 4.62619e-21 7.4019e-21 1 1 0 CERKL 375298 broad.mit.edu 37 2 182438565 182438565 + Silent SNP T T C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:182438565T>C ENST00000410087.3 - 3 628 c.528A>G c.(526-528)caA>caG p.Q176Q CERKL_ENST00000374969.2_Intron|CERKL_ENST00000374970.2_Silent_p.Q176Q|CERKL_ENST00000339098.5_Silent_p.Q176Q|CERKL_ENST00000409440.3_Intron|CERKL_ENST00000479558.1_5'UTR NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 176 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) TTTTGTGACTTTGGGGGTTAA 0.338000 9 48 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140409891 140409891 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr3:140409891G>T ENST00000286349.3 + 4 2133 c.1942G>T c.(1942-1944)Gta>Tta p.V648L NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 648 Fibronectin type-III. intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TCCTAACAACGTACAAATGGA 0.428000 12 118 2.27111e-07 3.03658e-07 1 1 0 ADAM18 8749 broad.mit.edu 37 8 39505941 39505941 + Missense_Mutation SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:39505941A>T ENST00000265707.5 + 12 1170 c.1125A>T c.(1123-1125)aaA>aaT p.K375N ADAM18_ENST00000379866.1_Missense_Mutation_p.K351N|ADAM18_ENST00000541111.1_Intron NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 375 Peptidase M12B. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TTGAGACTAAATGCCTTCAGA 0.343000 26 43 0 0 1 0 0 OSBPL3 26031 broad.mit.edu 37 7 24870414 24870414 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr7:24870414G>T ENST00000313367.2 - 16 2308 c.1857C>A c.(1855-1857)gaC>gaA p.D619E OSBPL3_ENST00000431825.2_Missense_Mutation_p.D552E|OSBPL3_ENST00000396431.1_Missense_Mutation_p.D588E|OSBPL3_ENST00000353930.1_Missense_Mutation_p.D583E|OSBPL3_ENST00000396429.1_Missense_Mutation_p.D583E|OSBPL3_ENST00000409069.1_Missense_Mutation_p.D552E|OSBPL3_ENST00000352860.1_Missense_Mutation_p.D588E NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 619 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 GGAAGCCCTTGTCCTCCCGAA 0.428000 36 201 1.36161e-19 2.15701e-19 1 1 0 SRCAP 10847 broad.mit.edu 37 16 30715383 30715383 + Splice_Site SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr16:30715383A>T ENST00000262518.4 + 4 439 c.e4-1 SRCAP_ENST00000395059.2_Splice_Site|SRCAP_ENST00000344771.4_Splice_Site NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CCTCTTTTCTAGATGGTGTCG 0.483000 15 78 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130285665 130285665 + Missense_Mutation SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr3:130285665A>T ENST00000358511.6 + 4 1433 c.1402A>T c.(1402-1404)Att>Ttt p.I468F COL6A6_ENST00000453409.2_Missense_Mutation_p.I468F NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 468 Nonhelical region.|VWFA 3. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GATGTTCAACATTGCTCCCCA 0.488000 22 90 0 0 1 0 0 HSP90AB2P 391634 broad.mit.edu 37 4 13339108 13339108 + RNA SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr4:13339108C>A ENST00000602906.1 + 0 862 kidney(3)|lung(1) 4 CTATTCATTCCTCCTTAGGCT 0.423000 4 51 0.184627 0.186964 1 1 0 TMEM168 64418 broad.mit.edu 37 7 112415279 112415279 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr7:112415279C>A ENST00000312814.5 - 3 1783 c.1223G>T c.(1222-1224)gGa>gTa p.G408V TMEM168_ENST00000454074.1_Missense_Mutation_p.G408V|TMEM168_ENST00000480969.1_5'UTR NM_022484.4 NP_071929.3 Q9H0V1 TM168_HUMAN transmembrane protein 168 408 integral to membrane|transport vesicle breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1) 32 AGATGTTCCTCCTAAACAGTT 0.373000 9 60 3.86212e-05 4.65783e-05 1 1 0 WWC1 23286 broad.mit.edu 37 5 167850626 167850626 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr5:167850626G>T ENST00000265293.4 + 11 1865 c.1363G>T c.(1363-1365)Gac>Tac p.D455Y WWC1_ENST00000521089.1_Missense_Mutation_p.D455Y NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 455 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) ATCCAGCCTGGACTCCTCCAC 0.617000 18 115 3.32936e-07 4.41462e-07 1 1 0 NAP1L3 4675 broad.mit.edu 37 X 92927307 92927307 + Missense_Mutation SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chrX:92927307C>T ENST00000373079.3 - 1 1260 c.997G>A c.(997-999)Gat>Aat p.D333N NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 333 nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 ATGGGCTCATCATACTTCTGA 0.428000 19 58 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50226286 50226286 + Missense_Mutation SNP C C G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr15:50226286C>G ENST00000284509.6 - 15 1522 c.1381G>C c.(1381-1383)Gat>Cat p.D461H ATP8B4_ENST00000559829.1_Missense_Mutation_p.D461H NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 461 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) ACTTTGGGATCACCCATTTTA 0.418000 14 78 0 0 1 0 0 AZIN1 51582 broad.mit.edu 37 8 103841564 103841564 + Nonsense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:103841564C>A ENST00000337198.5 - 11 2334 c.1171G>T c.(1171-1173)Gaa>Taa p.E391* AZIN1_ENST00000347770.4_Nonsense_Mutation_p.E391* NM_148174.2 NP_680479.1 O14977 AZIN1_HUMAN antizyme inhibitor 1 391 polyamine biosynthetic process|regulation of cellular amino acid metabolic process cytosol catalytic activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1) 9 Lung NSC(17;0.000143)|all_lung(17;0.000294) OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414) GCAGATGGTTCATGGAAAGAA 0.383000 27 118 2.41591e-17 3.78966e-17 1 1 0 PCDHA2 56146 broad.mit.edu 37 5 140175016 140175016 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr5:140175016G>T ENST00000526136.1 + 1 467 c.467G>T c.(466-468)gGa>gTa p.G156V PCDHA2_ENST00000378132.1_Missense_Mutation_p.G156V|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.G156V|PCDHA1_ENST00000504120.2_Intron NM_018905.2 NP_061728.1 p.G156A(2) NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTCTAGAGGGAGCATCTGAT 0.438000 12 100 0.010729 0.0113185 1 1 0 SLC4A4 8671 broad.mit.edu 37 4 72205110 72205110 + Nonsense_Mutation SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr4:72205110C>T ENST00000340595.3 + 1 341 c.145C>T c.(145-147)Cga>Tga p.R49* SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Nonsense_Mutation_p.R93*|SLC4A4_ENST00000264485.5_Nonsense_Mutation_p.R93*|SLC4A4_ENST00000512686.1_Nonsense_Mutation_p.R49*|SLC4A4_ENST00000351898.6_Nonsense_Mutation_p.R93* NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 93 T -> A (in Ref. 6; BAH58226). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) AGAACGCATCCGATTCATCTT 0.557000 13 205 0 0 1 0 0 POTEA 340441 broad.mit.edu 37 8 43173743 43173743 + RNA SNP A A G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:43173743A>G ENST00000522175.2 + 0 1029 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 ATTTCCTAACACAGAGATTGA 0.393000 20 107 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8152788 8152788 + Silent SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr19:8152788G>T ENST00000600128.1 - 53 6954 c.6540C>A c.(6538-6540)cgC>cgA p.R2180R FBN3_ENST00000270509.2_Silent_p.R2180R|FBN3_ENST00000601739.1_Silent_p.R2180R Q75N90 FBN3_HUMAN fibrillin 3 2180 EGF-like 35; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 TATTGTGGCAGCGGAAGGCAC 0.632000 12 80 3.07112e-06 3.94154e-06 1 1 0 CTNNA2 1496 broad.mit.edu 37 2 80835392 80835392 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:80835392C>A ENST00000466387.1 + 21 3103 c.2379C>A c.(2377-2379)agC>agA p.S793R CTNNA2_ENST00000496558.1_Missense_Mutation_p.S793R|CTNNA2_ENST00000402739.4_Missense_Mutation_p.S793R|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S793R|CTNNA2_ENST00000343114.3_Missense_Mutation_p.S472R|CTNNA2_ENST00000540488.1_Intron|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S827R P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 793 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 ATATCTGCAGCAAGGTGAAGG 0.443000 7 70 1.12685e-05 1.4049e-05 1 1 0 PLXNA4 91584 broad.mit.edu 37 7 132169702 132169702 + Missense_Mutation SNP G G T rs112214523 byFrequency TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr7:132169702G>T ENST00000378539.5 - 5 1818 c.1442C>A c.(1441-1443)gCg>gAg p.A481E PLXNA4_ENST00000423507.2_Intron|PLXNA4_ENST00000359827.3_Intron|PLXNA4_ENST00000321063.4_Intron NM_181775.3 NP_861440.2 Q9HCM2 PLXA4_HUMAN plexin A4 0 Sema. integral to membrane|intracellular|plasma membrane p.A481V(1) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 AGCAATGTTCGCCCCAGGTGG 0.483000 13 79 9.31168e-06 1.16396e-05 1 1 0 GKN2 200504 broad.mit.edu 37 2 69172517 69172517 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:69172517C>A ENST00000328895.4 - 6 646 c.538G>T c.(538-540)Gca>Tca p.A180S GKN2_ENST00000481498.1_3'UTR NM_182536.2 NP_872342.2 Q86XP6 GKN2_HUMAN gastrokine 2 180 extracellular region autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1) 15 TGAATGTCTGCACAGATTGAA 0.388000 17 126 5.35267e-07 7.03912e-07 1 1 0 SMC3 9126 broad.mit.edu 37 10 112335124 112335124 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr10:112335124G>T ENST00000361804.4 + 4 287 c.161G>T c.(160-162)aGt>aTt p.S54I SMC3_ENST00000462899.1_3'UTR NM_005445.3 NP_005436.1 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 54 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) GATGAGTTTAGTCATCTTCGT 0.308000 6 59 0.000157383 0.000185612 1 1 0 MIR129-2 406918 broad.mit.edu 37 11 43603032 43603032 + RNA SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:43603032C>A ENST00000362207.1 + 0 89 NR_029697.1 TTGCGGAGGGCGCACTCGTCG 0.592000 3 13 0.115264 0.117466 1 1 0 C6 729 broad.mit.edu 37 5 41149434 41149434 + Missense_Mutation SNP T T A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr5:41149434T>A ENST00000263413.3 - 17 2796 c.2532A>T c.(2530-2532)gaA>gaT p.E844D C6_ENST00000337836.5_Missense_Mutation_p.E844D NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 844 C5b-binding domain. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding 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) CAAGACCCCATTCTAACTGGC 0.423000 19 239 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92531081 92531081 + Missense_Mutation SNP G G C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:92531081G>C ENST00000298047.6 + 9 4919 c.4902G>C c.(4900-4902)atG>atC p.M1634I FAT3_ENST00000409404.2_Missense_Mutation_p.M1634I|FAT3_ENST00000525166.1_Missense_Mutation_p.M1484I Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1634 Cadherin 15. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGACGACGATGGGTCAGTTTG 0.463000 TCGA Ovarian(4;0.039) 22 107 0 0 1 0 0 CACNA1F 778 broad.mit.edu 37 X 49084716 49084716 + Silent SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chrX:49084716G>A ENST00000376265.2 - 7 1072 c.1011C>T c.(1009-1011)taC>taT p.Y337Y CACNA1F_ENST00000376251.1_Silent_p.Y272Y|CACNA1F_ENST00000323022.5_Silent_p.Y337Y NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 337 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) ACCTCACCCAGTAGAGCACAT 0.572000 5 26 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195400799 195400799 + RNA SNP G G A rs7635172 by1000genomes TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr3:195400799G>A ENST00000445430.1 + 0 1395 CAAACTCGCTGTTGGACCTGG 0.597000 3 18 0 0 1 0 0 TTC3 7267 broad.mit.edu 37 21 38480702 38480702 + Translation_Start_Site SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr21:38480702G>A ENST00000540756.1 + 0 95 TTC3_ENST00000355666.1_Missense_Mutation_p.G286S|TTC3_ENST00000354749.2_Missense_Mutation_p.G286S|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000399017.2_Missense_Mutation_p.G286S P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) AAATGCACTCGGTGATGGAAA 0.308000 3 38 0 0 1 0 0 LRRTM4 80059 broad.mit.edu 37 2 77745780 77745780 + Silent SNP G G C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:77745780G>C ENST00000409088.3 - 3 1629 c.1215C>G c.(1213-1215)tcC>tcG p.S405S LRRTM4_ENST00000409093.1_Silent_p.S405S|LRRTM4_ENST00000409282.1_Silent_p.S406S|LRRTM4_ENST00000409884.1_Silent_p.S405S|LRRTM4_ENST00000409911.1_Silent_p.S406S NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 405 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) GAAACCCTGGGGAAGGGCTTG 0.498000 12 51 0 0 1 0 0 BTAF1 9044 broad.mit.edu 37 10 93754312 93754312 + Missense_Mutation SNP A A G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr10:93754312A>G ENST00000265990.6 + 23 3528 c.3220A>G c.(3220-3222)Aag>Gag p.K1074E NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 1074 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) CCTCCTGGATAAGGGAGATAG 0.368000 5 35 0 0 1 0 0 MST1L 11223 broad.mit.edu 37 1 17084092 17084092 + RNA SNP C C G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:17084092C>G ENST00000455405.2 - 0 620 CTTGATGTTACACTCCTGGTT 0.597000 8 258 0 0 1 0 0 MAGEB18 286514 broad.mit.edu 37 X 26157554 26157554 + Missense_Mutation SNP G G C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chrX:26157554G>C ENST00000325250.1 + 2 639 c.452G>C c.(451-453)aGa>aCa p.R151T NM_173699.3 NP_775970.1 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 151 MAGE. protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 ATCCTCAAGAGAGCCTCTGAG 0.418000 5 16 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34090953 34090953 + Nonsense_Mutation SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr20:34090953C>T ENST00000397527.1 + 30 5476 c.4756C>T c.(4756-4758)Cag>Tag p.Q1586* CEP250_ENST00000342580.4_Nonsense_Mutation_p.Q1530* NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 1586 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GAGGGAAACCCAGAGAGTGGC 0.557000 4 34 0 0 1 0 0 CCDC83 220047 broad.mit.edu 37 11 85606379 85606379 + Silent SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:85606379C>A ENST00000280245.4 + 6 1067 c.555C>A c.(553-555)atC>atA p.I185I CCDC83_ENST00000376067.1_Silent_p.I86I|CCDC83_ENST00000342404.3_Silent_p.I185I|CCDC83_ENST00000529676.2_3'UTR NM_173556.3 NP_775827.2 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 185 breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) AGAAAATAATCAAGGAAACTT 0.279000 9 41 3.09899e-07 4.12053e-07 1 1 0 SLC39A12 221074 broad.mit.edu 37 10 18250567 18250567 + Missense_Mutation SNP A A G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr10:18250567A>G ENST00000377369.2 + 3 592 c.319A>G c.(319-321)Aga>Gga p.R107G SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377371.3_Missense_Mutation_p.R107G|SLC39A12_ENST00000377374.4_Missense_Mutation_p.R107G NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 107 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 AGATCAGCTTAGAGAAGAAGT 0.353000 8 66 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1967775 1967775 + Missense_Mutation SNP T T C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr12:1967775T>C ENST00000382722.5 - 20 2338 c.1976A>G c.(1975-1977)tAc>tGc p.Y659C CACNA2D4_ENST00000539048.2_5'UTR|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.Y595C|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.Y634C|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.Y595C|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.Y659C|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.Y520C NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 659 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CAGAAGGATGTATTCTCCGTG 0.592000 6 40 0 0 1 0 0 U2SURP 23350 broad.mit.edu 37 3 142772595 142772595 + Silent SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr3:142772595C>T ENST00000397933.2 + 25 2788 c.1506C>T c.(1504-1506)gaC>gaT p.D502D U2SURP_ENST00000473835.2_Silent_p.D911D|U2SURP_ENST00000493598.2_Silent_p.D910D O15042 SR140_HUMAN U2 snRNP-associated SURP domain containing 911 RNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 31 GCTCCAAAGACAAGAAGGAAA 0.323000 3 19 0 0 1 0 0 MEPE 56955 broad.mit.edu 37 4 88766948 88766948 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr4:88766948G>A ENST00000497649.2 + 6 1234 c.856G>A c.(856-858)Gaa>Aaa p.E286K MEPE_ENST00000560249.1_Missense_Mutation_p.E197K|MEPE_ENST00000395102.4_Missense_Mutation_p.E341K|MEPE_ENST00000361056.3_Missense_Mutation_p.E310K|MEPE_ENST00000424957.3_Missense_Mutation_p.E310K|MEPE_ENST00000540395.1_Missense_Mutation_p.E197K|MEPE_ENST00000508016.1_3'UTR Q9NQ76 MEPE_HUMAN matrix extracellular phosphoglycoprotein 310 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) CCCAGAGAGAGAAGAAAATGG 0.448000 9 65 0 0 1 0 0 NAP1L4 4676 broad.mit.edu 37 11 2991166 2991166 + Splice_Site SNP T T A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:2991166T>A ENST00000380542.4 - 7 543 c.e7-2 NAP1L4_ENST00000526115.1_Splice_Site NM_005969.3 NP_005960.1 Q99733 NP1L4_HUMAN nucleosome assembly protein 1-like 4 nucleosome assembly chromatin assembly complex|cytoplasm unfolded protein binding endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1) 13 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211) CATGTCTCCCTAAAAAAAAGA 0.418000 3 47 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130283847 130283847 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr3:130283847G>A ENST00000358511.6 + 3 702 c.671G>A c.(670-672)gGc>gAc p.G224D COL6A6_ENST00000453409.2_Missense_Mutation_p.G224D NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 224 Nonhelical region. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GCTTGCCAAGGCCCTTCTATG 0.423000 24 105 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48383582 48383582 + Silent SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr12:48383582G>T ENST00000380518.3 - 17 1194 c.1030C>A c.(1030-1032)Cga>Aga p.R344R COL2A1_ENST00000337299.6_Silent_p.R275R NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 344 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) TCGTTGCCTCGGGCACCCTGT 0.587000 19 104 5.03518e-11 7.39109e-11 1 1 0 PTPRC 5788 broad.mit.edu 37 1 198700799 198700799 + Missense_Mutation SNP G G C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:198700799G>C ENST00000367376.2 + 18 2083 c.1912G>C c.(1912-1914)Gaa>Caa p.E638Q PTPRC_ENST00000348564.6_Missense_Mutation_p.E479Q|PTPRC_ENST00000352140.3_Missense_Mutation_p.E590Q|PTPRC_ENST00000442510.2_Missense_Mutation_p.E640Q|PTPRC_ENST00000594404.1_Missense_Mutation_p.E477Q NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 638 axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 TATTTTGTTGGAAACTTATAA 0.343000 14 77 0 0 1 0 0 KIAA0226 9711 broad.mit.edu 37 3 197427574 197427574 + Nonsense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr3:197427574C>A ENST00000273582.5 - 7 1536 c.991G>T c.(991-993)Gag>Tag p.E331* KIAA0226_ENST00000389665.5_Nonsense_Mutation_p.E391*|KIAA0226_ENST00000449205.1_Nonsense_Mutation_p.E391*|KIAA0226_ENST00000296343.5_Nonsense_Mutation_p.E391* NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 391 Ser-rich. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) GTCTGCCCCTCTGAGAAGCTG 0.587000 5 88 0.014758 0.015333 1 1 0 CCDC147 159686 broad.mit.edu 37 10 106160477 106160477 + Missense_Mutation SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr10:106160477C>T ENST00000369704.3 + 13 1989 c.1855C>T c.(1855-1857)Cgg>Tgg p.R619W NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 619 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) TCAGCTTGTTCGGCGCAATGA 0.498000 5 92 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151156157 151156157 + Silent SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr3:151156157G>T ENST00000282466.3 - 6 6191 c.6192C>A c.(6190-6192)ggC>ggA p.G2064G IGSF10_ENST00000495443.1_5'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 2064 Ig-like C2-type 7. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCACTGGGGAGCCGGAAGCTT 0.463000 16 137 1.3612e-06 1.77548e-06 1 1 0 GPRC6A 222545 broad.mit.edu 37 6 117128109 117128109 + Silent SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr6:117128109G>T ENST00000310357.3 - 3 780 c.759C>A c.(757-759)acC>acA p.T253T GPRC6A_ENST00000530250.1_Silent_p.T253T|GPRC6A_ENST00000368549.3_Silent_p.T253T NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 253 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TGACTTCAATGGTATTATCTG 0.378000 13 71 0.00244969 0.0027156 1 1 0 TRBC2 28638 broad.mit.edu 37 7 142499645 142499645 + RNA SNP G G A rs1126990 TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr7:142499645G>A ENST00000466254.1 + 0 405 CTTCACCTCCGGTAAGTGAGT 0.507000 60 442 0 0 1 0 0 ICT1 3396 broad.mit.edu 37 17 73015848 73015848 + Missense_Mutation SNP A A G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr17:73015848A>G ENST00000301585.5 + 3 290 c.277A>G c.(277-279)Aac>Gac p.N93D NM_001545.1 NP_001536.1 Q14197 ICT1_HUMAN immature colon carcinoma transcript 1 93 mitochondrial translational termination mitochondrial large ribosomal subunit aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1) 6 all_lung(278;0.226) GCAGAATGTGAACAAAGGTAC 0.438000 4 35 0 0 1 0 0 IGHV4-61 28391 broad.mit.edu 37 14 107095200 107095200 + RNA SNP T T A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr14:107095200T>A ENST00000390630.2 - 0 380 TTCTTGGACGTGTCTACTGAT 0.552000 13 109 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4167059 4167059 + Silent SNP G G A rs144535926 TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr7:4167059G>A ENST00000404826.2 + 26 4009 c.3870G>A c.(3868-3870)tcG>tcA p.S1290S SDK1_ENST00000389531.3_Silent_p.S1290S NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1290 Fibronectin type-III 7. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CTGTCAGCTCGACCCAGATTT 0.507000 20 111 0 0 1 0 0 ZNF3 7551 broad.mit.edu 37 7 99669713 99669713 + Nonsense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr7:99669713G>A ENST00000303915.6 - 5 1361 c.394C>T c.(394-396)Cga>Tga p.R132* ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000424697.1_Nonsense_Mutation_p.R132*|ZNF3_ENST00000299667.4_Nonsense_Mutation_p.R132* P17036 ZNF3_HUMAN zinc finger protein 3 132 cell differentiation|leukocyte activation|multicellular organismal development nucleus DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 25 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029) STAD - Stomach adenocarcinoma(171;0.129) CTGACTTCTCGTTCATAGGCT 0.438000 23 88 0 0 1 0 0 RNASE2 6036 broad.mit.edu 37 14 21424045 21424045 + Missense_Mutation SNP G G C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr14:21424045G>C ENST00000304625.2 + 2 205 c.115G>C c.(115-117)Gaa>Caa p.E39Q NM_002934.2 NP_002925.1 P10153 RNAS2_HUMAN ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) 39 ET -> QE (in Ref. 10; AA sequence). chemotaxis|RNA catabolic process extracellular region|lysosome nucleic acid binding|pancreatic ribonuclease activity p.E39Q(1) breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 17 all_cancers(95;0.00381) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) TCAATGGTTTGAAACCCAGCA 0.458000 19 63 0 0 1 0 0 TMEM182 130827 broad.mit.edu 37 2 103431211 103431211 + Silent SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:103431211C>A ENST00000412401.2 + 5 679 c.474C>A c.(472-474)atC>atA p.I158I TMEM182_ENST00000409173.1_Silent_p.I115I|TMEM182_ENST00000409528.1_Silent_p.I62I|TMEM182_ENST00000486293.1_Intron NM_144632.3 NP_653233.3 Q6ZP80 TM182_HUMAN transmembrane protein 182 158 integral to membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5) 11 TCTCAGGCATCCTATTTTCAT 0.448000 7 15 0.0381472 0.0393778 1 1 0 FANCI 55215 broad.mit.edu 37 15 89834929 89834929 + Missense_Mutation SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr15:89834929C>T ENST00000310775.7 + 20 2062 c.1976C>T c.(1975-1977)tCt>tTt p.S659F FANCI_ENST00000300027.8_Missense_Mutation_p.S659F NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 659 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) GATAAGATCTCTCTACAAGAA 0.378000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 22 104 0 0 1 0 0 FSCN3 29999 broad.mit.edu 37 7 127235454 127235454 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr7:127235454G>T ENST00000265825.5 + 2 457 c.238G>T c.(238-240)Ggc>Tgc p.G80C FSCN3_ENST00000478328.1_3'UTR|FSCN3_ENST00000420086.2_5'UTR NM_020369.2 NP_065102.1 Q9NQT6 FSCN3_HUMAN fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) 80 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 TGAGTGTGATGGCACCGTGTG 0.582000 14 67 4.36969e-10 6.24242e-10 1 1 0 GPRASP1 9737 broad.mit.edu 37 X 101911201 101911201 + Missense_Mutation SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chrX:101911201A>T ENST00000537097.1 + 6 3173 c.2360A>T c.(2359-2361)gAa>gTa p.E787V GPRASP1_ENST00000415986.1_Missense_Mutation_p.E787V|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.E787V|GPRASP1_ENST00000361600.5_Missense_Mutation_p.E787V NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 787 Glu-rich. cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TGGGCTGGAGAAGAGGACAGA 0.512000 23 130 0 0 1 0 0 OR5D16 390144 broad.mit.edu 37 11 55606337 55606337 + Missense_Mutation SNP A A G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:55606337A>G ENST00000378396.1 + 1 110 c.110A>G c.(109-111)tAc>tGc p.Y37C NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) CTGGCAGTCTACGGCTTCAGT 0.433000 25 128 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34117964 34117964 + Silent SNP C C G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:34117964C>G ENST00000373381.4 - 28 4721 c.4545G>C c.(4543-4545)gtG>gtC p.V1515V CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Silent_p.V388V NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1475 CUB 9. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTGAGACGGTCACTTTCCAGT 0.572000 24 99 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106526685 106526685 + Missense_Mutation SNP T T C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr7:106526685T>C ENST00000359195.3 + 10 3288 c.2978T>C c.(2977-2979)tTt>tCt p.F993S PIK3CG_ENST00000440650.2_Missense_Mutation_p.F993S|PIK3CG_ENST00000496166.1_Missense_Mutation_p.F993S NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 993 PI3K/PI4K. G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 GACTTCCTCTTTGTGATGGGA 0.443000 8 47 0 0 1 0 0 OR52A1 23538 broad.mit.edu 37 11 5172960 5172960 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:5172960G>T ENST00000380367.1 - 2 1057 c.640C>A c.(640-642)Ctc>Atc p.L214I OR52A1_ENST00000328942.1_Missense_Mutation_p.L214I Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, member 1 214 sensory perception of smell integral to plasma membrane olfactory receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATGAATGTGAGGTCAAATCCT 0.413000 17 91 1.99824e-07 2.6867e-07 1 1 0 OR5D13 390142 broad.mit.edu 37 11 55541283 55541283 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:55541283C>A ENST00000361760.1 + 1 370 c.370C>A c.(370-372)Cgt>Agt p.R124S NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 124 R -> H (in dbSNP:rs11230983). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) GGCTTATGACCGTTTTGTGGC 0.433000 34 197 9.78485e-24 1.58139e-23 1 1 0 ZC3H6 376940 broad.mit.edu 37 2 113089679 113089679 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:113089679C>A ENST00000409871.1 + 12 3585 c.3184C>A c.(3184-3186)Cta>Ata p.L1062I ZC3H6_ENST00000343936.4_Missense_Mutation_p.L1062I NM_198581.2 NP_940983.2 P61129 ZC3H6_HUMAN zinc finger CCCH-type containing 6 1062 nucleic acid binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2) 35 CACATCAGAGCTAGCAACAGC 0.448000 6 30 0.00198382 0.00220424 1 1 0 ELTD1 64123 broad.mit.edu 37 1 79387397 79387397 + Silent SNP T T A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:79387397T>A ENST00000370742.3 - 9 1221 c.1158A>T c.(1156-1158)tcA>tcT p.S386S NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 386 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) CACAGCCCTCTGAAGACCAGC 0.433000 4 73 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195400795 195400795 + RNA SNP C C T rs7615357 by1000genomes TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr3:195400795C>T ENST00000445430.1 + 0 1391 GGGGCAAACTCGCTGTTGGAC 0.592000 3 21 0 0 1 0 0 LINGO2 158038 broad.mit.edu 37 9 27950700 27950700 + Translation_Start_Site SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr9:27950700C>T ENST00000379992.2 - 0 419 LINGO2_ENST00000308675.3_De_novo_Start_OutOfFrame NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) ACCTTGGTCACGGGTCTGCAT 0.488000 3 19 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102372515 102372515 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr6:102372515C>A ENST00000369138.1 + 12 2278 c.1788C>A c.(1786-1788)aaC>aaA p.N596K GRIK2_ENST00000369134.4_Missense_Mutation_p.N547K|GRIK2_ENST00000421544.1_Missense_Mutation_p.N596K|GRIK2_ENST00000369137.3_Intron|GRIK2_ENST00000318991.6_Missense_Mutation_p.N596K|GRIK2_ENST00000413795.1_Missense_Mutation_p.N596K NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 596 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) ACCCTTGCAACCCTGACTCAG 0.403000 10 61 0.000442599 0.000507035 1 1 0 PGBD1 84547 broad.mit.edu 37 6 28264625 28264625 + Missense_Mutation SNP G G T rs151300360 TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr6:28264625G>T ENST00000405948.2 + 5 1095 c.675G>T c.(673-675)caG>caT p.Q225H PGBD1_ENST00000259883.3_Missense_Mutation_p.Q225H NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 225 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 AAACAGCCCAGGCCGTTGCTG 0.468000 14 72 4.3838e-07 5.79676e-07 1 1 0 TAF9B 51616 broad.mit.edu 37 X 77387162 77387162 + Missense_Mutation SNP T T A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chrX:77387162T>A ENST00000341864.5 - 7 795 c.701A>T c.(700-702)gAa>gTa p.E234V NM_015975.4 NP_057059.2 Q9HBM6 TAF9B_HUMAN TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa 234 negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 14 TGGGTTTGCTTCATTGGCTGT 0.353000 18 118 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103338516 103338516 + Silent SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr7:103338516G>A ENST00000424685.2 - 10 1086 c.927C>T c.(925-927)atC>atT p.I309I RELN_ENST00000343529.5_Silent_p.I309I|RELN_ENST00000428762.1_Silent_p.I309I P78509 RELN_HUMAN reelin 309 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GGATATGGATGATTGTGCTGA 0.433000 37 161 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197115399 197115399 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:197115399G>T ENST00000367409.4 - 1 425 c.169C>A c.(169-171)Ctg>Atg p.L57M ASPM_ENST00000294732.7_Missense_Mutation_p.L57M NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 57 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 GAGGCTCCCAGGAGAACGTCC 0.657000 53 171 4.32865e-36 7.04323e-36 1 1 0 EP400 57634 broad.mit.edu 37 12 132514300 132514300 + Silent SNP G G A rs143343739 byFrequency TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr12:132514300G>A ENST00000333577.4 + 29 5653 c.5544G>A c.(5542-5544)ccG>ccA p.P1848P EP400_ENST00000389562.2_Silent_p.P1811P|EP400_ENST00000389561.2_Silent_p.P1812P|EP400_ENST00000330386.6_Silent_p.P1731P|EP400_ENST00000332482.4_Silent_p.P1775P Q96L91 EP400_HUMAN E1A binding protein p400 1848 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TACGGGTGCCGCGGCCGCCAC 0.642000 9 54 0 0 1 0 0 OR4X2 119764 broad.mit.edu 37 11 48267490 48267490 + Missense_Mutation SNP T T A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:48267490T>A ENST00000302329.3 + 1 883 c.835T>A c.(835-837)Tac>Aac p.Y279N NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 279 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 CCCTGTCATCTACTCTCTGAG 0.463000 18 95 0 0 1 0 0 SCAI 286205 broad.mit.edu 37 9 127789172 127789172 + Missense_Mutation SNP G G C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr9:127789172G>C ENST00000336505.5 - 6 489 c.431C>G c.(430-432)aCc>aGc p.T144S SCAI_ENST00000373549.4_Missense_Mutation_p.T167S NM_001144877.2 NP_001138349.1 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion 144 Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).|Required for interaction with MKL1 (By similarity). negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1) 35 CAGATAGCTGGTTTCCGATGT 0.348000 5 40 0 0 1 0 0 KRT25 147183 broad.mit.edu 37 17 38907492 38907492 + Silent SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr17:38907492C>A ENST00000312150.4 - 4 816 c.756G>T c.(754-756)ctG>ctT p.L252L NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 252 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) GCATGTTGTTCAGCAGAACTG 0.577000 5 72 0.014758 0.015333 1 1 0 CD163 9332 broad.mit.edu 37 12 7656274 7656274 + Silent SNP T T G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr12:7656274T>G ENST00000359156.4 - 1 215 c.13A>C c.(13-15)Aga>Cga p.R5R CD163_ENST00000396620.3_Silent_p.R5R|CD163_ENST00000432237.2_Silent_p.R5R NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 5 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 AGCACCATTCTGAGTTTGCTC 0.323000 7 38 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179463668 179463668 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:179463668C>A ENST00000589042.1 - 291 56993 c.56769G>T c.(56767-56769)atG>atT p.M18923I TTN_ENST00000342175.6_Missense_Mutation_p.M10050I|TTN_ENST00000342992.6_Missense_Mutation_p.M16355I|TTN_ENST00000359218.5_Missense_Mutation_p.M9983I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M17282I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M9858I|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17282 Ig-like 107. 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) TGGTGTCTTTCATTTCCAGCC 0.448000 14 56 1.5842e-08 2.21696e-08 1 1 0 CEP85 64793 broad.mit.edu 37 1 26603736 26603736 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:26603736G>A ENST00000252992.4 + 14 2372 c.2241G>A c.(2239-2241)atG>atA p.M747I CEP85_ENST00000469609.1_3'UTR|CEP85_ENST00000451429.2_Missense_Mutation_p.M696I NM_022778.2 NP_073615.2 Q6P2H3 CEP85_HUMAN centrosomal protein 85kDa 747 centrosome|nucleolus|spindle pole breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2) 25 GGACCACCATGTCAGACAGAT 0.517000 11 107 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121759050 121759050 + Silent SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr5:121759050A>T ENST00000261367.7 + 6 2187 c.759A>T c.(757-759)ccA>ccT p.P253P SNCAIP_ENST00000379536.2_Silent_p.P206P|SNCAIP_ENST00000503116.2_Silent_p.P253P|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000261368.8_Silent_p.P206P|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379533.2_Silent_p.P253P Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 206 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) ACATGGCACCATTTTGTGTTC 0.468000 10 135 0 0 1 0 0 FOXH1 8928 broad.mit.edu 37 8 145699818 145699818 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:145699818G>T ENST00000377317.4 - 3 1479 c.901C>A c.(901-903)Ccc>Acc p.P301T NM_003923.2 NP_003914.1 O75593 FOXH1_HUMAN forkhead box H1 301 SMAD-interaction domain (SID). axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway activin responsive factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD 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 factor binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) GGACACTGGGGACAGGAGGTG 0.652000 14 85 2.23348e-06 2.88968e-06 1 1 0 RAB37 326624 broad.mit.edu 37 17 72741179 72741179 + Silent SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr17:72741179C>A ENST00000340415.3 + 8 1510 c.501C>A c.(499-501)gcC>gcA p.A167A RAB37_ENST00000392614.4_Silent_p.A179A|RAB37_ENST00000392610.1_Silent_p.A174A|RAB37_ENST00000392615.5_Silent_p.A142A|RAB37_ENST00000392612.3_Silent_p.A137A|RAB37_ENST00000528438.1_Silent_p.A147A|RAB37_ENST00000402449.4_Silent_p.A167A|RAB37_ENST00000392613.5_Silent_p.A174A NM_175738.4 NP_783865.1 Q96AX2 RAB37_HUMAN RAB37, member RAS oncogene family 174 protein transport|small GTPase mediated signal transduction ER-Golgi intermediate compartment GTP binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 12 AGACCAGCGCCAAGACTGGCA 0.632000 OREG0024716 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 61 0.00116845 0.00131656 1 1 0 SEC31A 22872 broad.mit.edu 37 4 83799972 83799972 + Nonsense_Mutation SNP T T A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr4:83799972T>A ENST00000432794.1 - 4 476 c.313A>T c.(313-315)Aaa>Taa p.K105* SEC31A_ENST00000348405.4_Nonsense_Mutation_p.K105*|SEC31A_ENST00000395310.2_Nonsense_Mutation_p.K105*|SEC31A_ENST00000513858.1_Nonsense_Mutation_p.K105*|SEC31A_ENST00000355196.2_Nonsense_Mutation_p.K105*|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000443462.2_Nonsense_Mutation_p.K100*|SEC31A_ENST00000500777.2_Nonsense_Mutation_p.K105*|SEC31A_ENST00000448323.1_Nonsense_Mutation_p.K105*|SEC31A_ENST00000508479.1_Nonsense_Mutation_p.K105*|SEC31A_ENST00000311785.7_Nonsense_Mutation_p.K105*|SEC31A_ENST00000505472.1_Nonsense_Mutation_p.K105*|SEC31A_ENST00000509142.1_Nonsense_Mutation_p.K105*|SEC31A_ENST00000326950.5_Nonsense_Mutation_p.K105*|SEC31A_ENST00000505984.1_Nonsense_Mutation_p.K105*|SEC31A_ENST00000508502.1_Nonsense_Mutation_p.K105* O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 105 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) GCTATAATTTTAGAAGGATCA 0.408000 12 56 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153582539 153582539 + Missense_Mutation SNP T T C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chrX:153582539T>C ENST00000422373.1 - 33 5761 c.5513A>G c.(5512-5514)tAt>tGt p.Y1838C FLNA_ENST00000369850.3_Missense_Mutation_p.Y1846C|FLNA_ENST00000360319.4_Missense_Mutation_p.Y1838C|FLNA_ENST00000369856.3_Missense_Mutation_p.Y37C|FLNA_ENST00000344736.4_Missense_Mutation_p.Y1806C NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1846 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CATGTTGTCATAGCGGATGTC 0.642000 OREG0003596 type=REGULATORY REGION|Gene=BC028089|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 5 48 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41423905 41423905 + Nonsense_Mutation SNP G G C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr21:41423905G>C ENST00000400454.1 - 30 5642 c.5165C>G c.(5164-5166)tCa>tGa p.S1722* NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1722 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CCGAGCGTCTGAAACATCCAC 0.488000 22 124 0 0 1 0 0 OR52L1 338751 broad.mit.edu 37 11 6007848 6007848 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:6007848C>A ENST00000332249.4 - 1 367 c.313G>T c.(313-315)Gtt>Ttt p.V105F NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGGCATGAACCAGGAGCACT 0.542000 11 24 4.68919e-08 6.37623e-08 1 1 0 KIF6 221458 broad.mit.edu 37 6 39552729 39552729 + Missense_Mutation SNP C C G rs149838047 by1000genomes TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr6:39552729C>G ENST00000287152.7 - 9 1116 c.1022G>C c.(1021-1023)cGa>cCa p.R341P KIF6_ENST00000373216.3_Missense_Mutation_p.R341P|KIF6_ENST00000373213.4_Missense_Mutation_p.R180P|KIF6_ENST00000538893.1_Missense_Mutation_p.R341P|KIF6_ENST00000373215.3_Missense_Mutation_p.R341P NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 341 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 GAGTGCCACTCGCTGTGCAAA 0.289000 24 81 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134628380 134628380 + Missense_Mutation SNP T T C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr10:134628380T>C ENST00000368586.5 - 51 7256 c.7156A>G c.(7156-7158)Aaa>Gaa p.K2386E TTC40_ENST00000263170.5_Missense_Mutation_p.K547E NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 547 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CTTCTCTTTTTGGGGTCTCTG 0.612000 8 156 0 0 1 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820410 35820410 + Missense_Mutation SNP G G C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chrX:35820410G>C ENST00000399989.1 + 2 376 c.97G>C c.(97-99)Gct>Cct p.A33P MAGEB16_ENST00000399985.1_Missense_Mutation_p.A33P|MAGEB16_ENST00000399988.1_Missense_Mutation_p.A33P|MAGEB16_ENST00000399987.1_Missense_Mutation_p.A33P|MAGEB16_ENST00000399992.1_Missense_Mutation_p.A65P NM_001099921.1 NP_001093391.1 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 33 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GGTCTCCAAGGCTCTGGAGAA 0.552000 8 37 0 0 1 0 0 NPNT 255743 broad.mit.edu 37 4 106819105 106819105 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr4:106819105G>T ENST00000379987.2 + 2 335 c.119G>T c.(118-120)gGg>gTg p.G40V NPNT_ENST00000305572.8_Missense_Mutation_p.G40V|NPNT_ENST00000506666.1_Missense_Mutation_p.G40V|NPNT_ENST00000453617.2_Missense_Mutation_p.G40V|NPNT_ENST00000427316.2_Missense_Mutation_p.G40V|NPNT_ENST00000514622.1_Missense_Mutation_p.G40V NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 40 cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) CGTTATGGTGGGAGGATTGAC 0.493000 6 39 0.00198382 0.00220424 1 1 0 COL2A1 1280 broad.mit.edu 37 12 48369267 48369267 + Missense_Mutation SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr12:48369267C>T ENST00000380518.3 - 51 3883 c.3719G>A c.(3718-3720)cGg>cAg p.R1240Q COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.R1171Q NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 1240 Nonhelical region (C-terminal). axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CTGGTCGGCCCGCATGTACTG 0.662000 17 67 0 0 1 0 0 XPNPEP1 7511 broad.mit.edu 37 10 111642316 111642316 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr10:111642316C>A ENST00000369680.4 - 10 1034 c.786G>T c.(784-786)agG>agT p.R262S XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.R191S|XPNPEP1_ENST00000502935.1_Missense_Mutation_p.R305S|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.R305S NM_020383.3 NP_065116.3 Q9NQW7 XPP1_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 1, soluble 262 bradykinin catabolic process|proteolysis manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1) 31 Breast(234;0.174) Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721) GCACCTGGATCCTGTATTCGG 0.572000 43 92 2.00842e-17 3.16079e-17 1 1 0 OR56B1 387748 broad.mit.edu 37 11 5757857 5757857 + Silent SNP T T A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:5757857T>A ENST00000317121.3 + 1 177 c.111T>A c.(109-111)tcT>tcA p.S37S TRIM5_ENST00000380027.1_Intron NM_001005180.2 NP_001005180.1 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, member 1 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) ACTGGCTATCTCTGCCCCTGG 0.493000 7 58 0 0 1 0 0 ZNF682 91120 broad.mit.edu 37 19 20117398 20117398 + Missense_Mutation SNP T T C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr19:20117398T>C ENST00000397165.2 - 4 1073 c.913A>G c.(913-915)Aca>Gca p.T305A ZNF682_ENST00000595736.1_Missense_Mutation_p.T229A|ZNF682_ENST00000597972.1_Missense_Mutation_p.T311A|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000397162.1_Missense_Mutation_p.T273A|ZNF682_ENST00000358523.5_Missense_Mutation_p.T273A NM_033196.2 NP_149973.1 O95780 ZN682_HUMAN zinc finger protein 682 305 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 14 GTGTGAATTGTCTTATGTTTG 0.403000 19 67 0 0 1 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150525586 150525586 + Silent SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:150525586C>A ENST00000271643.4 + 5 527 c.291C>A c.(289-291)ccC>ccA p.P97P ADAMTSL4_ENST00000369041.5_Silent_p.P97P|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Silent_p.P97P|ADAMTSL4_ENST00000369039.5_Silent_p.P97P NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 97 apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CCCTCCTCCCCCGGGGCCAGG 0.672000 17 55 3.45872e-05 4.22439e-05 1 1 0 PPP2CB 5516 broad.mit.edu 37 8 30657229 30657229 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:30657229G>A ENST00000221138.4 - 2 595 c.145C>T c.(145-147)Cgt>Tgt p.R49C PPP2CB_ENST00000518564.1_Intron|PPP2CB_ENST00000520500.1_5'UTR NM_001009552.1 NP_001009552.1 P62714 PP2AB_HUMAN protein phosphatase 2, catalytic subunit, beta isozyme 49 protein dephosphorylation chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole metal ion binding breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 9 KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114) Vitamin E(DB00163) ACAGGGCAACGAACCTCTTGC 0.328000 20 96 0 0 1 0 0 FMO1 2326 broad.mit.edu 37 1 171254514 171254514 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:171254514G>A ENST00000354841.4 + 8 1561 c.1430G>A c.(1429-1431)gGc>gAc p.G477D FMO1_ENST00000367750.3_Missense_Mutation_p.G477D|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.G414D Q01740 FMO1_HUMAN flavin containing monooxygenase 1 477 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CGCTTGACTGGCCCAGGAAAA 0.512000 16 55 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49197488 49197488 + Silent SNP T T A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr11:49197488T>A ENST00000340334.7 - 9 1265 c.897A>T c.(895-897)ccA>ccT p.P299P FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000256999.2_Silent_p.P314P|FOLH1_ENST00000356696.3_Silent_p.P314P|FOLH1_ENST00000343844.4_Silent_p.P6P|FOLH1_ENST00000533034.1_Silent_p.P299P NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 314 NAALADase. proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TGCTATCTGGTGGTGCTGAGC 0.363000 13 72 0 0 1 0 0 WWP1 11059 broad.mit.edu 37 8 87439906 87439906 + Missense_Mutation SNP T T C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:87439906T>C ENST00000517970.1 + 11 1499 c.1192T>C c.(1192-1194)Tat>Cat p.Y398H WWP1_ENST00000349423.2_Missense_Mutation_p.Y180H|WWP1_ENST00000341922.2_Missense_Mutation_p.Y268H|WWP1_ENST00000265428.4_Missense_Mutation_p.Y398H NM_007013.3 NP_008944.1 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 1 398 WW 2. central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1) 31 TAGAAGAGTTTATTATGTGGA 0.373000 24 105 0 0 1 0 0 IFNAR1 3454 broad.mit.edu 37 21 34707908 34707908 + Missense_Mutation SNP G G C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr21:34707908G>C ENST00000270139.3 + 2 307 c.155G>C c.(154-156)aGc>aCc p.S52T IFNAR1_ENST00000493503.1_3'UTR|IFNAR1_ENST00000442357.2_Missense_Mutation_p.S52T|IFNAR1_ENST00000416947.2_5'UTR NM_000629.2 NP_000620.2 P17181 INAR1_HUMAN interferon (alpha, beta and omega) receptor 1 52 JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway integral to plasma membrane type I interferon receptor activity breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2) 14 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) TGGAACAGGAGCGATGAGTCT 0.348000 19 68 0 0 1 0 0 CPNE4 131034 broad.mit.edu 37 3 131254157 131254157 + Missense_Mutation SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr3:131254157A>T ENST00000512055.1 - 20 3682 c.1556T>A c.(1555-1557)cTg>cAg p.L519Q CPNE4_ENST00000429747.1_Missense_Mutation_p.L519Q|CPNE4_ENST00000502818.1_Missense_Mutation_p.L537Q|CPNE4_ENST00000511604.1_Missense_Mutation_p.L519Q|CPNE4_ENST00000512332.1_Missense_Mutation_p.L537Q|CPNE4_ENST00000503204.1_5'UTR Q96A23 CPNE4_HUMAN copine IV 519 central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 GCTCTTTGCCAGGGCAGCTGG 0.453000 8 85 0 0 1 0 0 BLK 640 broad.mit.edu 37 8 11406632 11406632 + Splice_Site SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:11406632G>A ENST00000259089.4 + 5 960 c.e5+1 BLK_ENST00000529894.1_Splice_Site NM_001715.2 NP_001706.2 P51451 BLK_HUMAN B lymphoid tyrosine kinase intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) AAATGGAAAGGTAGGTGGGCA 0.602000 3 6 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50683728 50683728 + Missense_Mutation SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr18:50683728A>T ENST00000442544.2 + 8 1880 c.1264A>T c.(1264-1266)Atc>Ttc p.I422F DCC_ENST00000412726.1_Missense_Mutation_p.I270F|DCC_ENST00000581580.1_Missense_Mutation_p.I77F|DCC_ENST00000580146.1_3'UTR NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 422 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CTCCTTAGCTATCCCAAGCTC 0.547000 20 173 0 0 1 0 0 ACSM2A 123876 broad.mit.edu 37 16 20476863 20476863 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr16:20476863G>T ENST00000573854.1 + 3 316 c.202G>T c.(202-204)Gcc>Tcc p.A68S ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000417235.2_5'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.A68S|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A68S|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A68S|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A68S NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 68 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 CCCAAGCCCAGCCCTGTGGTG 0.532000 6 59 0.0293803 0.0303935 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25326336 25326336 + RNA SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr15:25326336G>A ENST00000546682.1 + 0 36 SNHG14_ENST00000549804.2_RNA NR_003361.1 ACATGGTGTGGGGGCTCCTCC 0.507000 4 33 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238296628 238296628 + Silent SNP G G C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:238296628G>C ENST00000295550.4 - 4 1361 c.909C>G c.(907-909)gcC>gcG p.A303A COL6A3_ENST00000409809.1_Silent_p.A97A|COL6A3_ENST00000353578.4_Silent_p.A97A|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000346358.4_Silent_p.A303A|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000392004.3_Silent_p.A97A NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 303 Nonhelical region.|VWFA 2. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCAGAACCTGGGCCTTGGTGG 0.572000 10 64 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103316394 103316394 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:103316394G>A ENST00000520539.1 - 22 3437 c.2831C>T c.(2830-2832)gCg>gTg p.A944V UBR5_ENST00000220959.4_Missense_Mutation_p.A944V|UBR5_ENST00000521922.1_Missense_Mutation_p.A938V NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 944 Poly-Glu. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) AGAACGCTCCGCTTCTGAAAA 0.338000 10 56 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34081266 34081266 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr20:34081266G>T ENST00000397527.1 + 23 3620 c.2900G>T c.(2899-2901)gGg>gTg p.G967V CEP250_ENST00000342580.4_Missense_Mutation_p.G911V NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 967 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GAGACCACTGGGATACTACAG 0.527000 29 156 2.24059e-21 3.59694e-21 1 1 0 CHRNB4 1143 broad.mit.edu 37 15 78921866 78921866 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr15:78921866C>A ENST00000261751.3 - 5 892 c.781G>T c.(781-783)Ggc>Tgc p.G261C CHRNB4_ENST00000412074.2_Intron NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 261 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 ATCTTCTCGCCGCAGTCGGAT 0.567000 16 97 5.01169e-05 6.02911e-05 1 1 0 PPP1R3A 5506 broad.mit.edu 37 7 113517870 113517870 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr7:113517870C>A ENST00000284601.3 - 4 3345 c.3277G>T c.(3277-3279)Gac>Tac p.D1093Y NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 1093 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 ATCATTAAGTCATAATGGTAG 0.353000 13 83 7.03913e-09 9.90845e-09 1 1 0 GGA1 26088 broad.mit.edu 37 22 38026925 38026925 + Silent SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr22:38026925A>T ENST00000406772.1 + 15 1780 c.1128A>T c.(1126-1128)ccA>ccT p.P376P GGA1_ENST00000337437.4_Silent_p.P416P|GGA1_ENST00000343632.4_Silent_p.P449P|GGA1_ENST00000325180.8_Silent_p.P362P|GGA1_ENST00000381756.5_Silent_p.P466P NM_001172688.1 NP_001166159.1 Q9UJY5 GGA1_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 1 449 Unstructured hinge. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|Golgi apparatus part protein binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 10 Melanoma(58;0.0574) AGCAGCAGCCAACCCCCCGGC 0.597000 6 45 0 0 1 0 0 ERLIN2 11160 broad.mit.edu 37 8 37602157 37602157 + Nonsense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:37602157G>T ENST00000276461.5 + 6 434 c.367G>T c.(367-369)Gaa>Taa p.E123* ERLIN2_ENST00000335171.6_Nonsense_Mutation_p.E123*|ERLIN2_ENST00000523887.1_Nonsense_Mutation_p.E123*|ERLIN2_ENST00000519638.1_Nonsense_Mutation_p.E123*|ERLIN2_ENST00000397228.2_Nonsense_Mutation_p.E123*|ERLIN2_ENST00000518586.1_Nonsense_Mutation_p.E123*|ERLIN2_ENST00000523107.1_Nonsense_Mutation_p.E123* NM_007175.6 NP_009106.1 O94905 ERLN2_HUMAN ER lipid raft associated 2 123 ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane protein binding NS(1)|large_intestine(1)|lung(5) 7 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) GATCCACCACGAACTGAACCA 0.473000 16 113 1.15088e-07 1.55174e-07 1 1 0 COPS8 10920 broad.mit.edu 37 2 237994652 237994652 + Missense_Mutation SNP G G C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:237994652G>C ENST00000354371.2 + 1 698 c.45G>C c.(43-45)aaG>aaC p.K15N COPS8_ENST00000409629.1_Missense_Mutation_p.K15N|COPS8_ENST00000409334.1_Missense_Mutation_p.K15N|COPS8_ENST00000392008.2_5'UTR NM_006710.4 NP_006701.1 Q99627 CSN8_HUMAN COP9 signalosome subunit 8 15 cullin deneddylation cytoplasm|signalosome large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 4 Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211) Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258) GTTTCAAAAAGTTGCTGGATC 0.617000 3 12 0 0 1 0 0 POU5F2 134187 broad.mit.edu 37 5 93076429 93076429 + Missense_Mutation SNP C C A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr5:93076429C>A ENST00000510627.4 - 1 914 c.841G>T c.(841-843)Gcc>Tcc p.A281S POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000395965.3_Intron NM_153216.1 NP_694948.1 Q8N7G0 PO5F2_HUMAN POU domain class 5, transcription factor 2 281 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19) GGAGGCCCGGCTGTCCCCACA 0.582000 4 20 0.00909568 0.00963781 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168115466 168115466 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:168115466G>T ENST00000409728.1 + 11 2598 c.2509G>T c.(2509-2511)Ggc>Tgc p.G837C XIRP2_ENST00000409605.1_Missense_Mutation_p.G582C|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.G804C|XIRP2_ENST00000409756.2_Missense_Mutation_p.G804C|XIRP2_ENST00000420519.1_Missense_Mutation_p.G837C NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CCTCAGCAGAGGCCTTATGGT 0.433000 7 22 0.00198382 0.00220424 1 1 0 NLRP11 204801 broad.mit.edu 37 19 56313016 56313016 + Missense_Mutation SNP C C G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr19:56313016C>G ENST00000443188.1 - 7 2803 c.2093G>C c.(2092-2094)tGt>tCt p.C698S NLRP11_ENST00000592953.1_Missense_Mutation_p.C599S|NLRP11_ENST00000589824.2_Missense_Mutation_p.C644S|NLRP11_ENST00000589093.1_Missense_Mutation_p.C698S|NLRP11_ENST00000360133.3_Missense_Mutation_p.C644S NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 698 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) AATGGACGTACAGTTGATACT 0.463000 21 78 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18854481 18854481 + Missense_Mutation SNP G G C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr12:18854481G>C ENST00000447925.2 - 9 1234 c.965C>G c.(964-966)aCa>aGa p.T322R PLCZ1_ENST00000539875.1_Missense_Mutation_p.T131R|PLCZ1_ENST00000435379.1_Missense_Mutation_p.T129R|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000538330.1_Missense_Mutation_p.T106R|PLCZ1_ENST00000266505.7_Missense_Mutation_p.T324R|PLCZ1_ENST00000541695.1_Missense_Mutation_p.T187R NM_033123.2 NP_149114.2 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 324 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) TTTTACCCCTGTTTCCTTGTC 0.393000 26 65 0 0 1 0 0 AGK 55750 broad.mit.edu 37 7 141292984 141292984 + Splice_Site SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr7:141292984A>T ENST00000355413.4 + 3 400 c.141_splice c.e3+1 p.Q47_splice AGK_ENST00000473247.1_Splice_Site_p.Q19_splice|AGK_ENST00000535825.1_Splice_Site_p.Q47_splice|AGK_ENST00000495028.1_3'UTR|AGK_ENST00000492693.1_Splice_Site_p.Q47_splice NM_018238.3 NP_060708.1 Q53H12 AGK_HUMAN acylglycerol kinase 47 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway mitochondrial membrane acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3) 17 Melanoma(164;0.0171) CAAGAAGCTCAGGTAATACTA 0.363000 4 34 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13418936 13418936 + Silent SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr19:13418936G>T ENST00000360228.5 - 14 1910 c.1911C>A c.(1909-1911)ggC>ggA p.G637G CACNA1A_ENST00000573710.2_Silent_p.G638G NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 638 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GGACTTACTGGCCGCCGAAGA 0.547000 8 33 7.48243e-07 9.81302e-07 1 1 0 TMC1 117531 broad.mit.edu 37 9 75435985 75435985 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr9:75435985G>A ENST00000297784.5 + 20 2531 c.1991G>A c.(1990-1992)tGt>tAt p.C664Y TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Missense_Mutation_p.C664Y|TMC1_ENST00000340019.3_Missense_Mutation_p.C664Y NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 664 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 TCTTTTGATTGTGGTCCATTC 0.448000 31 140 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701792 56701792 + Missense_Mutation SNP T T C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr19:56701792T>C ENST00000586855.2 - 5 1205 c.892A>G c.(892-894)Aga>Gga p.R298G ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.R298G A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 298 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 GGTTTGCTTCTTTTGGGACTG 0.517000 34 125 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55539202 55539202 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:55539202G>T ENST00000220676.1 + 4 2908 c.2760G>T c.(2758-2760)ttG>ttT p.L920F NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 920 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AGAGTTGGTTGCAGAACATAA 0.333000 3 38 0.115264 0.117466 1 1 0 TDP1 55775 broad.mit.edu 37 14 90432512 90432512 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr14:90432512G>A ENST00000335725.4 + 4 831 c.581G>A c.(580-582)gGg>gAg p.G194E TDP1_ENST00000555565.1_3'UTR|TDP1_ENST00000393454.2_Missense_Mutation_p.G194E|TDP1_ENST00000555880.1_Missense_Mutation_p.G194E|TDP1_ENST00000393452.3_Missense_Mutation_p.G194E|TDP1_ENST00000357382.3_5'UTR NM_018319.3 NP_060789.2 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 194 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1) 25 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) CCTTTATTTGGGACGCTTGTT 0.323000 Repair of DNA-protein crosslinks 4 30 0 0 1 0 0 PKD2L1 9033 broad.mit.edu 37 10 102058413 102058413 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr10:102058413G>A ENST00000318222.3 - 4 1019 c.637C>T c.(637-639)Cat>Tat p.H213Y PKD2L1_ENST00000353274.3_Missense_Mutation_p.H213Y|PKD2L1_ENST00000338519.3_Missense_Mutation_p.H213Y NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 213 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) AAGTCTTCATGCACCACACAG 0.547000 25 83 0 0 1 0 0 C1QTNF3 114899 broad.mit.edu 37 5 34043216 34043216 + Silent SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr5:34043216C>T ENST00000382065.3 - 1 721 c.15G>A c.(13-15)caG>caA p.Q5Q C1QTNF3_ENST00000231338.7_Silent_p.Q5Q NM_181435.5 NP_852100.3 Q9BXJ4 C1QT3_HUMAN C1q and tumor necrosis factor related protein 3 0 collagen breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1) 17 all_lung(31;0.0207) AATAGATGAGCTGCCTCCAAA 0.512000 22 102 0 0 1 0 0 HCRTR2 3062 broad.mit.edu 37 6 55145137 55145137 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr6:55145137G>A ENST00000370862.3 + 6 1336 c.1000G>A c.(1000-1002)Gcc>Acc p.A334T NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 334 feeding behavior integral to plasma membrane neuropeptide receptor activity p.A334S(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TGGGATGTTTGCCCATACTGA 0.368000 14 73 0 0 1 0 0 WWC1 23286 broad.mit.edu 37 5 167798481 167798481 + Nonsense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr5:167798481G>T ENST00000265293.4 + 2 674 c.172G>T c.(172-174)Gga>Tga p.G58* WWC1_ENST00000521089.1_Nonsense_Mutation_p.G58* NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 58 WW 2. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) GTTGCCGCTAGGATGGGAAGA 0.527000 7 47 0.000157383 0.000185612 1 1 0 FRY 10129 broad.mit.edu 37 13 32759186 32759186 + Missense_Mutation SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr13:32759186A>T ENST00000380250.3 + 26 3716 c.3220A>T c.(3220-3222)Atg>Ttg p.M1074L NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1074 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CTTGACCCGCATGCTCCTAGA 0.423000 29 109 0 0 1 0 0 AMY2B 280 broad.mit.edu 37 1 104116955 104116955 + Missense_Mutation SNP A A G rs150659982 TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr1:104116955A>G ENST00000361355.4 + 7 1434 c.818A>G c.(817-819)tAt>tGt p.Y273C AMY2B_ENST00000491397.1_3'UTR NM_020978.3 NP_066188.1 P19961 AMY2B_HUMAN amylase, alpha 2B (pancreatic) 273 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1) 46 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) GAATTCAAGTATGGTGCAAAA 0.378000 34 180 0 0 1 0 0 CCDC147 159686 broad.mit.edu 37 10 106163575 106163575 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr10:106163575G>A ENST00000369704.3 + 14 2262 c.2128G>A c.(2128-2130)Gtg>Atg p.V710M NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 710 p.V710L(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) TCCCCTGAATGTGCACAGATG 0.512000 3 10 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11114068 11114068 + Nonsense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr19:11114068G>T ENST00000358026.2 + 13 2280 c.1996G>T c.(1996-1998)Gaa>Taa p.E666* SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.E666*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.E666*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.E666*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.E666*|SMARCA4_ENST00000429416.3_Nonsense_Mutation_p.E666*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.E666*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.E666*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.E666* NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 666 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.?(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) AGAAGAAGAGGAAGAGGTAAG 0.507000 """F, N, Mis""" NSCLC 16 87 0.00400662 0.00438082 1 1 0 TMEM99 147184 broad.mit.edu 37 17 38991028 38991028 + Missense_Mutation SNP G G A TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr17:38991028G>A ENST00000301665.3 + 3 564 c.260G>A c.(259-261)tGc>tAc p.C87Y NM_001195386.1|NM_001195387.1|NM_145274.3 NP_001182315.1|NP_001182316.1|NP_660317.2 Q8N816 TMM99_HUMAN transmembrane protein 99 87 integral to membrane cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1) 10 Breast(137;0.000301) CTTTGTGCTTGCGGTCATCGG 0.453000 8 174 0 0 1 0 0 C20orf96 140680 broad.mit.edu 37 20 270260 270260 + Missense_Mutation SNP C C G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr20:270260C>G ENST00000360321.2 - 3 265 c.127G>C c.(127-129)Gtc>Ctc p.V43L C20orf96_ENST00000400269.3_Intron|C20orf96_ENST00000382369.5_Intron NM_080571.1|NM_153269.2 NP_542138.1|NP_695001.2 Q9NUD7 CT096_HUMAN chromosome 20 open reading frame 96 43 endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(10;0.00959)|Lung NSC(37;0.227) OV - Ovarian serous cystadenocarcinoma(29;0.149) GCTTGTTGGACTGGAGGCAGA 0.488000 11 77 0 0 1 0 0 LIPN 643418 broad.mit.edu 37 10 90521183 90521183 + Silent SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr10:90521183A>T ENST00000404459.1 + 1 21 c.21A>T c.(19-21)acA>acT p.T7T NM_001102469.1 NP_001095939.1 Q5VXI9 LIPN_HUMAN lipase, family member N 7 lipid catabolic process extracellular region hydrolase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1) 9 Colorectal(252;0.0161) Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05) TGCTTTTAACAACAACTTGTT 0.318000 13 79 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137814741 137814741 + Missense_Mutation SNP A A G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:137814741A>G ENST00000409968.1 + 3 1069 c.891A>G c.(889-891)atA>atG p.I297M THSD7B_ENST00000413152.2_Missense_Mutation_p.I266M|THSD7B_ENST00000272643.3_Missense_Mutation_p.I297M|THSD7B_ENST00000543459.1_Missense_Mutation_p.I156M thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CAATAGAGATAGGTTATCAAA 0.378000 8 35 0 0 1 0 0 ZNF225 7768 broad.mit.edu 37 19 44636250 44636250 + Nonsense_Mutation SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr19:44636250C>T ENST00000262894.6 + 5 1763 c.1483C>T c.(1483-1485)Cag>Tag p.Q495* ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Nonsense_Mutation_p.Q495* NM_013362.2 NP_037494.2 Q9UK10 ZN225_HUMAN zinc finger protein 225 495 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 16 Prostate(69;0.0352)|all_neural(266;0.202) AAGATTTACTCAGAATTCACA 0.388000 16 78 0 0 1 0 0 MDH1B 130752 broad.mit.edu 37 2 207611130 207611130 + Missense_Mutation SNP C C G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:207611130C>G ENST00000374412.3 - 8 1512 c.1237G>C c.(1237-1239)Ggg>Cgg p.G413R MDH1B_ENST00000454776.2_Missense_Mutation_p.G413R|MDH1B_ENST00000392214.2_Missense_Mutation_p.G200R|MDH1B_ENST00000449792.1_Missense_Mutation_p.G315R NM_001039845.1 NP_001034934.1 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 413 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1) 34 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) AAGACGATCCCTTTCGGAATA 0.388000 5 45 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262738 45262738 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr5:45262738G>T ENST00000303230.4 - 8 2015 c.1958C>A c.(1957-1959)aCt>aAt p.T653N NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 653 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CGGGGTCGTAGTAGACGATGT 0.537000 15 89 0.000308642 0.000356125 1 1 0 HIF3A 64344 broad.mit.edu 37 19 46828896 46828896 + Splice_Site SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr19:46828896G>T ENST00000339613.2 + 11 1527 c.1272_splice c.e11+1 p.Q424_splice HIF3A_ENST00000600383.1_Splice_Site_p.Q411_splice|HIF3A_ENST00000244303.6_Splice_Site_p.Q411_splice|HIF3A_ENST00000420102.2_Splice_Site_p.Q429_splice|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000472815.1_Splice_Site_p.Q411_splice|HIF3A_ENST00000300862.3_Splice_Site_p.Q478_splice|HIF3A_ENST00000377670.4_Splice_Site_p.Q480_splice Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 480 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) ATATAGCTCAGGTAAGGGCTG 0.493000 26 81 6.32553e-13 9.57809e-13 1 1 0 KIF4B 285643 broad.mit.edu 37 5 154396219 154396219 + Missense_Mutation SNP C C G TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr5:154396219C>G ENST00000435029.4 + 1 2960 c.2800C>G c.(2800-2802)Ctt>Gtt p.L934V NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 934 Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GGTGCTATACCTTGTCAGCCA 0.463000 13 74 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203659 140203659 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr5:140203659G>T ENST00000529859.1 + 1 2299 c.2299G>T c.(2299-2301)Gac>Tac p.D767Y PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.D767Y|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.D767Y NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCCAAAACAGACCTCATGGC 0.542000 13 66 2.27111e-07 3.03658e-07 1 1 0 PCDHB3 56132 broad.mit.edu 37 5 140481026 140481026 + Missense_Mutation SNP T T C TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr5:140481026T>C ENST00000231130.2 + 1 793 c.793T>C c.(793-795)Tcg>Ccg p.S265P AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 265 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGTCACTGTCTCGGCTTCTGA 0.398000 8 107 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20807709 20807709 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr19:20807709G>T ENST00000601440.1 - 4 1120 c.974C>A c.(973-975)tCc>tAc p.S325Y CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 AAGGGTATAGGAGTACTTAAA 0.378000 6 76 2.7689e-08 3.81917e-08 1 1 0 GRIN2C 2905 broad.mit.edu 37 17 72851153 72851153 + Missense_Mutation SNP C C T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr17:72851153C>T ENST00000293190.5 - 2 225 c.79G>A c.(79-81)Gag>Aag p.E27K GRIN2C_ENST00000578159.1_Intron|GRIN2C_ENST00000347612.4_Missense_Mutation_p.E27K NM_000835.3 NP_000826.2 Q14957 NMDE3_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2C 27 glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 33 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) ATGCCCTGCTCGCCCTGCCCC 0.716000 3 22 0 0 1 0 0 MRPS26 64949 broad.mit.edu 37 20 3028485 3028485 + Silent SNP G G C rs138297176 TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr20:3028485G>C ENST00000380325.3 + 4 712 c.588G>C c.(586-588)ctG>ctC p.L196L NM_030811.3 NP_110438.1 Q9BYN8 RT26_HUMAN mitochondrial ribosomal protein S26 196 DNA damage response, detection of DNA damage mitochondrial small ribosomal subunit kidney(1)|lung(1) 2 GAGAGGGGCTGGTGGTCAGGC 0.592000 8 47 0 0 1 0 0 RNASEH1 246243 broad.mit.edu 37 2 3596229 3596229 + Splice_Site DEL C C - TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:3596229delC ENST00000315212.3 - 6 1005 c.e6+1 NM_002936.3 NP_002927.2 O60930 RNH1_HUMAN ribonuclease H1 RNA catabolic process cytoplasm magnesium ion binding|ribonuclease H activity|RNA binding endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1) 13 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22) TGAAAGCTTACCATTTATCGT 0.413 8 43 --- --- --- --- IGKV1D-43 28891 broad.mit.edu 37 2 90249300 90249300 + RNA DEL G G - TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:90249300delG ENST00000468879.1 + 0 437 AAGGTTCAGCGGCAGTGGATC 0.468 23 235 --- --- --- --- IGFBP5 3488 broad.mit.edu 37 2 217543728 217543728 + Frame_Shift_Del DEL G G - rs11575194 byFrequency TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr2:217543728delG ENST00000233813.4 - 2 1161 c.412delC c.(412-414)ggfs p.R138fs NM_000599.3 NP_000590.1 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 138 R -> W (in dbSNP:rs11575194). negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction insulin-like growth factor I binding endometrium(1)|large_intestine(3)|lung(1) 5 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGTTTGGGCCGGAAGATCTTG 0.602 8 86 --- --- --- --- DZIP3 9666 broad.mit.edu 37 3 108403130 108403130 + Frame_Shift_Del DEL A A - TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr3:108403130delA ENST00000361582.3 + 27 3181 c.2951delA c.(2950-2952)cafs p.Q984fs DZIP3_ENST00000463306.1_Frame_Shift_Del_p.Q984fs NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 984 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 ACTGTTCCTCAAATGCCTGCA 0.393 50 262 --- --- --- --- DNAH5 1767 broad.mit.edu 37 5 13719017 13719018 + Frame_Shift_Ins INS - - G rs3756672 by1000genomes TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr5:13719017_13719018insG ENST00000265104.4 - 72 12576_12577 c.12472_12473insC c.(12472-12474)ggcfs p.G4158fs NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4158 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CAGTCCTGCCCGGAGTCCTTGT 0.431 Kartagener syndrome 12 111 --- --- --- --- PODXL 5420 broad.mit.edu 37 7 131241030 131241035 + In_Frame_Del DEL GGCGAC GGCGAC - rs11277659 TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr7:131241030_131241035delGGCGAC ENST00000541194.1 - 1 341_346 c.84_89delGTCGCC c.(82-90)ccc>cc p.PSP28del PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 28 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.P30_S31delPS(2) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) ATTCTGGGAGggcgacggcgacggcg 0.748 2 4 --- --- --- --- BMP1 649 broad.mit.edu 37 8 22056769 22056769 + Frame_Shift_Del DEL C C - rs151297513 TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:22056769delC ENST00000397816.3 + 16 2561 c.2342delC c.(2341-2343)gcfs p.A781fs BMP1_ENST00000354870.5_Intron|BMP1_ENST00000306385.5_Intron|BMP1_ENST00000306349.8_Intron P13497 BMP1_HUMAN bone morphogenetic protein 1 0 CUB 4. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) CTGACTCTGGCCCCCCAGGAG 0.602 26 89 --- --- --- --- ZMAT4 79698 broad.mit.edu 37 8 40532251 40532251 + Frame_Shift_Del DEL C C - TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr8:40532251delC ENST00000297737.6 - 5 695 c.549delG c.(547-549)ggfs p.G183fs ZMAT4_ENST00000315769.7_Intron NM_024645.2 NP_078921.1 Q9H898 ZMAT4_HUMAN zinc finger, matrin-type 4 183 nucleus DNA binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) CCAGGGTTGTCCCCAGTTGTT 0.478 31 244 --- --- --- --- GRIN3A 116443 broad.mit.edu 37 9 104499661 104499661 + Frame_Shift_Del DEL G G - TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr9:104499661delG ENST00000361820.3 - 1 1201 c.601delC c.(601-603)agfs p.Q201fs NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 201 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) CCCTGGCTCTGGGGGAAGGCG 0.592 9 53 --- --- --- --- GPSM1 26086 broad.mit.edu 37 9 139235482 139235482 + Frame_Shift_Del DEL C C - TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr9:139235482delC ENST00000392945.3 + 9 1459 c.1239delC c.(1237-1239)ctfs p.L413fs GPSM1_ENST00000440944.1_Intron NM_015597.4 NP_056412.4 Q86YR5 GPSM1_HUMAN G-protein signaling modulator 1 0 Interaction with STK11/LKB1 (By similarity).|Mediates association with membranes (By similarity). cell differentiation|nervous system development|signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane binding|GTPase activator activity biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06) GGGTCTTGCTCCCCACAGGCA 0.687 3 3 --- --- --- --- MRC1 4360 broad.mit.edu 37 10 18155512 18155512 + Frame_Shift_Del DEL C C - TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr10:18155512delC ENST00000239761.3 + 12 1908 c.1805delC c.(1804-1806)gcfs p.A602fs NM_002438.2 NP_002429.1 P22897 MRC1_HUMAN mannose receptor, C type 1 602 C-type lectin 3. receptor-mediated endocytosis endosome membrane|integral to plasma membrane mannose binding|receptor activity breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1) 6 GGGTGTGTTGCCATGAGAACC 0.493 5 9 --- --- --- --- ACVR1B 91 broad.mit.edu 37 12 52370271 52370271 + Frame_Shift_Del DEL G G - TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr12:52370271delG ENST00000257963.4 + 3 569 c.492delG c.(490-492)atfs p.M164fs ACVR1B_ENST00000542485.1_Frame_Shift_Del_p.M112fs|ACVR1B_ENST00000541224.1_Frame_Shift_Del_p.M164fs|ACVR1B_ENST00000426655.2_Frame_Shift_Del_p.M164fs|ACVR1B_ENST00000415850.2_Frame_Shift_Del_p.M164fs NM_004302.4|NM_020328.3 NP_004293.1|NP_064733.3 P36896 ACV1B_HUMAN activin A receptor, type IB 164 G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) GACTGGACATGGAAGATCCCT 0.502 26 116 --- --- --- --- THBS1 7057 broad.mit.edu 37 15 39874466 39874466 + Frame_Shift_Del DEL G G - rs139441587 TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr15:39874466delG ENST00000260356.5 + 3 305 c.140delG c.(139-141)cafs p.R47fs NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 47 Heparin-binding.|TSP N-terminal. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) TCTGGGCGCCGACTGGTGAAG 0.592 15 45 --- --- --- --- SRCAP 10847 broad.mit.edu 37 16 30733463 30733463 + Frame_Shift_Del DEL G G - TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr16:30733463delG ENST00000262518.4 + 22 3947 c.3562delG c.(3562-3564)ggfs p.G1188fs SRCAP_ENST00000344771.4_Frame_Shift_Del_p.G1092fs|SRCAP_ENST00000395059.2_Frame_Shift_Del_p.G1188fs NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1188 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GGTCAGCATCGGGCAGTTAGC 0.527 19 89 --- --- --- --- DSC3 1825 broad.mit.edu 37 18 28574287 28574292 + In_Frame_Del DEL CATAAT CATAAT - TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr18:28574287_28574292delCATAAT ENST00000360428.4 - 16 2620_2625 c.2540_2545delATTATG c.(2539-2547)gtc>g p.DYV847del DSC3_ENST00000434452.1_3'UTR NM_001941.3 NP_001932.2 Q14574 DSC3_HUMAN desmocollin 3 847 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) TAAGTGAGGACATAATCTTGGGATGG 0.350 9 47 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11039156 11039156 + RNA DEL G G - TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr21:11039156delG ENST00000470054.1 - 0 1047 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTCCTCATGTGGGGACACTAA 0.398 20 434 --- --- --- --- POTEH 23784 broad.mit.edu 37 22 16267049 16267049 + Frame_Shift_Del DEL G G - TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chr22:16267049delG ENST00000343518.6 - 9 1451 c.1400delC c.(1399-1401)cafs p.P467fs NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 467 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 CAGGTTTTCTGGGAATCCCAT 0.398 10 648 --- --- --- --- ATP11C 286410 broad.mit.edu 37 X 138827930 138827932 + In_Frame_Del DEL AAG AAG - TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 453b2461-e5a5-425d-9bdf-be89453081a7 f53cff28-bc8a-4fdd-86d6-c1510d052eed g.chrX:138827930_138827932delAAG ENST00000370557.1 - 25 3931_3933 c.2904_2906delCTT c.(2902-2907)ttt>tt p.FF968del ATP11C_ENST00000359686.2_In_Frame_Del_p.FF974del|ATP11C_ENST00000327569.3_In_Frame_Del_p.FF974del|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_In_Frame_Del_p.FF974del|ATP11C_ENST00000370543.1_In_Frame_Del_p.FF974del Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 974 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) GTAAGTCCCAAAGAAGAACACTG 0.404 7 101 --- --- --- ---