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 COL4A3 1285 broad.mit.edu 37 2 228102726 228102726 + Missense_Mutation SNP G G A TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr2:228102726G>A ENST00000396578.3 + 2 292 c.130G>A c.(130-132)Gcc>Acc p.A44T AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 44 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) CTGTGACGGGGCCAAAGGGGA 0.428000 5 291 0 0 0.021553 0 0 MTERFD1 51001 broad.mit.edu 37 8 97251725 97251725 + Silent SNP C C T TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr8:97251725C>T ENST00000287025.3 - 8 1346 c.1248G>A c.(1246-1248)acG>acA p.T416T MTERFD1_ENST00000522822.1_Silent_p.T295T|MTERFD1_ENST00000523821.1_3'UTR|MTERFD1_ENST00000524341.1_Silent_p.T172T NM_015942.3 NP_057026.3 Q96E29 MTER1_HUMAN MTERF domain containing 1 416 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion transcription regulatory region DNA binding endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 24 Breast(36;5.16e-05) AAATCTAAAGCGTTTTTAAGA 0.284000 12 19 0 0 0.080935 0 0 TFPI2 7980 broad.mit.edu 37 7 93519448 93519448 + Splice_Site SNP C C A TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr7:93519448C>A ENST00000222543.5 - 2 584 c.e2+1 TFPI2_ENST00000545378.1_Splice_Site|GNGT1_ENST00000455502.1_Intron NM_006528.3 NP_006519.1 P48307 TFPI2_HUMAN tissue factor pathway inhibitor 2 blood coagulation proteinaceous extracellular matrix extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) AGGGCACTTACTTTCTATCCT 0.602000 23 32 1.10513e-12 1.44281e-12 0.069288 1 0 MDN1 23195 broad.mit.edu 37 6 90365677 90365677 + Missense_Mutation SNP C C T TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr6:90365677C>T ENST00000369393.3 - 92 15411 c.15296G>A c.(15295-15297)aGg>aAg p.R5099K MDN1_ENST00000428876.1_Missense_Mutation_p.R5099K Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 5099 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CCCAGGTTTCCTCTTAAAACT 0.468000 8 66 0 0 0.038147 0 0 TRIML1 339976 broad.mit.edu 37 4 189068316 189068316 + Silent SNP C C T TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr4:189068316C>T ENST00000332517.3 + 6 1337 c.1197C>T c.(1195-1197)caC>caT p.H399H TRIML1_ENST00000507581.1_3'UTR NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 399 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding p.H399Q(3) NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) AAGGTCAGCACGTCAGAGAGC 0.488000 81 109 0 0 0.139131 0 0 LAMA3 3909 broad.mit.edu 37 18 21394416 21394416 + Missense_Mutation SNP G G A TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr18:21394416G>A ENST00000313654.9 + 15 2079 c.1838G>A c.(1837-1839)tGc>tAc p.C613Y LAMA3_ENST00000399516.3_Missense_Mutation_p.C613Y NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 613 Domain V.|Laminin EGF-like 6. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGTAGCCGCTGCAAACTGTTA 0.343000 4 172 0 0 0.021553 0 0 SLC29A1 2030 broad.mit.edu 37 6 44197517 44197517 + Silent SNP C C T TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr6:44197517C>T ENST00000393841.1 + 5 794 c.303C>T c.(301-303)ttC>ttT p.F101F SLC29A1_ENST00000371731.1_Silent_p.F101F|SLC29A1_ENST00000393844.1_Silent_p.F101F|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371708.1_Silent_p.F101F|SLC29A1_ENST00000313248.7_Silent_p.F180F|SLC29A1_ENST00000371755.3_Silent_p.F101F|SLC29A1_ENST00000427851.2_Silent_p.F101F|SLC29A1_ENST00000371724.1_Silent_p.F101F|SLC29A1_ENST00000371713.1_Silent_p.F101F|SLC29A1_ENST00000371740.5_Silent_p.F101F NM_001078177.1 NP_001071645.1 Q99808 S29A1_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 1 101 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 17 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) TCAACTCCTTCCTGCATCAGA 0.592000 4 90 0 0 0.150653 0 0 TRAV36DV7 0 broad.mit.edu 37 14 22695051 22695051 + RNA SNP G G A TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr14:22695051G>A ENST00000390463.3 + 0 258 AAGTCAGGAAGACTAAGTAGC 0.438000 21 36 0 0 0.049695 0 0 SVIL 6840 broad.mit.edu 37 10 29754571 29754571 + Missense_Mutation SNP C C A TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr10:29754571C>A ENST00000375398.2 - 36 6535 c.6086G>T c.(6085-6087)aGt>aTt p.S2029I SVIL_ENST00000535393.1_Missense_Mutation_p.S943I|PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.S2029I|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.S1603I O95425 SVIL_HUMAN supervillin 2029 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) GGGCATGGAACTGACCACAGA 0.587000 20 61 4.35082e-09 5.52671e-09 0.055883 1 0 PCDHGA2 0 broad.mit.edu 37 5 140719281 140719281 + Missense_Mutation SNP G G A TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr5:140719281G>A ENST00000394576.2 + 1 743 c.743G>A c.(742-744)cGc>cAc p.R248H PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCGAGTACCGCATAAGCATT 0.557000 4 146 0 0 0.150653 0 0 EHMT2 10919 broad.mit.edu 37 6 31847931 31847931 + Missense_Mutation SNP C C A TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr6:31847931C>A ENST00000395728.3 - 27 3733 c.3734G>T c.(3733-3735)cGt>cTt p.R1245L EHMT2_ENST00000375528.4_Missense_Mutation_p.R1211L|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.R1154L|EHMT2_ENST00000375537.4_Missense_Mutation_p.R1188L Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 1188 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 GCGGGCCAGACGGCTCTGCTC 0.612000 3 45 0.004672 0.00577853 0.115264 1 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977359 29977359 + RNA SNP G G A rs3831361 by1000genomes TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr6:29977359G>A ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA ATTTGTTCATGCCTTCCCTTT 0.453000 5 64 0 0 0.029380 0 0 NDUFA7 4701 broad.mit.edu 37 19 8381518 8381518 + Missense_Mutation SNP G G A TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr19:8381518G>A ENST00000301457.2 - 3 150 c.113C>T c.(112-114)cCt>cTt p.P38L NDUFA7_ENST00000598884.1_Missense_Mutation_p.P38L NM_005001.3 NP_004992.2 O95182 NDUA7_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa 38 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity NS(1)|central_nervous_system(1)|lung(2)|ovary(1) 5 NADH(DB00157) GAGCTTGGGAGGAGGCTGAGT 0.552000 3 89 0 0 0.115264 0 0 ACSM2B 348158 broad.mit.edu 37 16 20565148 20565148 + Missense_Mutation SNP C C T TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr16:20565148C>T ENST00000329697.6 - 5 859 c.691G>A c.(691-693)Gca>Aca p.A231T ACSM2B_ENST00000565232.1_Missense_Mutation_p.A231T|ACSM2B_ENST00000565322.1_Missense_Mutation_p.A152T|ACSM2B_ENST00000567001.1_Missense_Mutation_p.A231T NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 231 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 GAATGTTCTGCCATCTTGGGA 0.522000 6 133 0 0 0.021553 0 0 VILL 50853 broad.mit.edu 37 3 38039042 38039042 + Silent SNP G G A TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr3:38039042G>A ENST00000283713.6 + 7 896 c.630G>A c.(628-630)gtG>gtA p.V210V VILL_ENST00000383759.2_Silent_p.V210V|VILL_ENST00000465644.1_Intron O15195 VILL_HUMAN villin-like 210 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) TTGGTGTGGTGGATGATGAGG 0.642000 3 65 0 0 0.150653 0 0 ABCA10 10349 broad.mit.edu 37 17 67149674 67149674 + Missense_Mutation SNP G G A TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr17:67149674G>A ENST00000269081.4 - 34 4888 c.3979C>T c.(3979-3981)Ctt>Ttt p.L1327F ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 1327 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) TGGAGCTTAAGAGCTTCCACC 0.423000 4 202 0 0 0.150653 0 0 ABCC10 89845 broad.mit.edu 37 6 43400167 43400167 + Missense_Mutation SNP C C A TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr6:43400167C>A ENST00000244533.3 + 1 679 c.320C>A c.(319-321)aCc>aAc p.T107N ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Missense_Mutation_p.T150N NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 150 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CTAGTGCTGACCGTGTTGTGG 0.647000 5 138 0.014758 0.0177853 0.014758 1 0 TAS2R19 259294 broad.mit.edu 37 12 11175081 11175081 + Silent SNP T T A TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr12:11175081T>A ENST00000390673.2 - 1 138 c.90A>T c.(88-90)gtA>gtT p.V30V PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176888.1 NP_795369.1 P59542 T2R19_HUMAN taste receptor, type 2, member 19 30 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1) 17 CAATGACATTTACTAGGGCTA 0.408000 4 91 0 0 0.150653 0 0 DNAH8 1769 broad.mit.edu 37 6 38957817 38957817 + Silent SNP G G A rs143472136 byFrequency TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr6:38957817G>A ENST00000359357.3 + 86 12686 c.12432G>A c.(12430-12432)ccG>ccA p.P4144P DNAH8_ENST00000441566.1_Silent_p.P4108P dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TGTTTGAACCGTCATTCTGCT 0.368000 5 195 0 0 0.021553 0 0 GABRR1 2569 broad.mit.edu 37 6 89890209 89890209 + Splice_Site SNP T T A TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr6:89890209T>A ENST00000435811.1 - 8 1353 c.e8-2 GABRR1_ENST00000369451.3_Splice_Site|GABRR1_ENST00000454853.2_Splice_Site NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) TTGTGATACCTGCAAACACAA 0.512000 3 78 0 0 0.115264 0 0 TRRAP 8295 broad.mit.edu 37 7 98522768 98522768 + Missense_Mutation SNP G G A TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr7:98522768G>A ENST00000359863.4 + 22 3066 c.2857G>A c.(2857-2859)Gcc>Acc p.A953T TRRAP_ENST00000355540.3_Missense_Mutation_p.A953T|TRRAP_ENST00000446306.3_Missense_Mutation_p.A952T NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 953 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CCTGAAAAGCGCCAACACTGA 0.493000 4 124 0 0 0.150653 0 0 HERC2P3 0 broad.mit.edu 37 15 20644645 20644645 + RNA SNP G G A TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr15:20644645G>A ENST00000428453.1 - 0 3187 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 ACCTCTGAGTGATGGCACTAC 0.632000 4 35 0 0 0.150653 0 0 MAGI3 260425 broad.mit.edu 37 1 114201721 114201721 + Silent SNP C C T TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr1:114201721C>T ENST00000369615.1 + 16 2711 c.2649C>T c.(2647-2649)ggC>ggT p.G883G MAGI3_ENST00000369617.4_Silent_p.G908G|MAGI3_ENST00000307546.9_Silent_p.G883G|MAGI3_ENST00000369611.4_Silent_p.G883G NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 908 Interaction with LPAR2 and GRIN2B.|PDZ 5. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATAAAATTGGCCGAGTCATAG 0.378000 4 145 0 0 0.150653 0 0 FRG1B 0 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 5 111 0 0 0.021553 0 0 RSF1 51773 broad.mit.edu 37 11 77404636 77404636 + Silent SNP G G A TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr11:77404636G>A ENST00000308488.6 - 8 3038 c.2736C>T c.(2734-2736)tgC>tgT p.C912C RSF1_ENST00000480887.1_Silent_p.C660C|RSF1_ENST00000360355.2_Silent_p.C881C Q96T23 RSF1_HUMAN remodeling and spacing factor 1 912 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) ATCCACTATCGCAAGAGTCAC 0.453000 3 16 0 0 0.115264 0 0 POLD1 5424 broad.mit.edu 37 19 50910352 50910352 + Missense_Mutation SNP C C A TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr19:50910352C>A ENST00000440232.2 + 13 1660 c.1607C>A c.(1606-1608)gCg>gAg p.A536E POLD1_ENST00000599857.1_Missense_Mutation_p.A536E|POLD1_ENST00000595904.1_Missense_Mutation_p.A536E NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 536 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) GTGGAGATGGCGAGGGTCACT 0.652000 DNA polymerases (catalytic subunits) 3 84 0.115264 0.132132 0.115264 1 0 IFNL3 282617 broad.mit.edu 37 19 39734513 39734513 + Missense_Mutation SNP C C T rs146276429 TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr19:39734513C>T ENST00000413851.2 - 4 481 c.443G>A c.(442-444)cGg>cAg p.R148Q NM_172139.2 NP_742151.2 interferon, lambda 3 GAGGCGGCCCCGGGTCCTGGG 0.692000 8 58 0 0 0.160694 0 0 PRRC2A 7916 broad.mit.edu 37 6 31595798 31595798 + Missense_Mutation SNP C C G TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr6:31595798C>G ENST00000376033.2 + 12 1781 c.1547C>G c.(1546-1548)tCt>tGt p.S516C PRRC2A_ENST00000376007.4_Missense_Mutation_p.S516C NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 516 2 X type B repeats.|4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 GCTGCCCCTTCTACCCCAGCT 0.602000 82 186 0 0 0.139131 0 0 PCDHGA3 0 broad.mit.edu 37 5 140724389 140724389 + Silent SNP G G A TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr5:140724389G>A ENST00000253812.6 + 1 789 c.789G>A c.(787-789)acG>acA p.T263T PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCTGCTCACGGTGAATGCCA 0.478000 35 52 0 0 0.064281 0 0 ZNF788 388507 broad.mit.edu 37 19 12224395 12224395 + Missense_Mutation SNP T T A TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr19:12224395T>A ENST00000397759.3 + 3 641 c.641T>A c.(640-642)tTc>tAc p.214_214insY ZNF20_ENST00000600335.1_Intron|ZNF788_ENST00000339302.4_3'UTR|ZNF788_ENST00000430298.2_3'UTR zinc finger family member 788 endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 2 GGGAAAGCCTTCACATCTGCC 0.423000 6 4 0 0 0.021553 0 0 DVL2 1856 broad.mit.edu 37 17 7137472 7137472 + Missense_Mutation SNP C C T TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr17:7137472C>T ENST00000005340.5 - 1 392 c.110G>A c.(109-111)cGc>cAc p.R37H DVL2_ENST00000575458.1_Missense_Mutation_p.R37H NM_004422.2 NP_004413.1 O14641 DVL2_HUMAN dishevelled segment polarity protein 2 37 DIX. canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1) 25 GAGGGTGATGCGCTCGGCGGG 0.602000 5 280 0 0 0.014758 0 0 KAT6A 7994 broad.mit.edu 37 8 41791386 41791386 + Missense_Mutation SNP G G A rs148148486 TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr8:41791386G>A ENST00000396930.3 - 18 4895 c.4352C>T c.(4351-4353)gCg>gTg p.A1451V KAT6A_ENST00000406337.1_Missense_Mutation_p.A1451V|KAT6A_ENST00000265713.2_Missense_Mutation_p.A1451V NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1451 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 CTGACACGCCGCAAGAGTTTC 0.527000 4 208 0 0 0.150653 0 0 STRBP 0 broad.mit.edu 37 9 125898354 125898354 + Missense_Mutation SNP G G A TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr9:125898354G>A ENST00000447404.2 - 15 2043 c.1739C>T c.(1738-1740)gCg>gTg p.A580V STRBP_ENST00000360998.3_Missense_Mutation_p.A566V|STRBP_ENST00000348403.5_Missense_Mutation_p.A580V Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein 580 multicellular organismal development cytoplasm|nucleus DNA binding p.A580V(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2) 26 ATTATTTGCCGCATTGGGTCC 0.398000 5 135 0 0 0.021553 0 0 GSTM5 2949 broad.mit.edu 37 1 110257888 110257888 + Missense_Mutation SNP T T C TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr1:110257888T>C ENST00000369813.1 + 5 1375 c.470T>C c.(469-471)tTt>tCt p.F157S GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000369812.5_Intron|GSTM5_ENST00000256593.3_Intron P46439 GSTM5_HUMAN glutathione S-transferase mu 5 0 GST C-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 21 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) TCCTTTCTCTTTGATGCCCCT 0.483000 12 103 0 0 0.093190 0 0 PAPSS1 9061 broad.mit.edu 37 4 108566109 108566109 + Missense_Mutation SNP T T A TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr4:108566109T>A ENST00000265174.4 - 10 1627 c.1355A>T c.(1354-1356)cAc>cTc p.H452L NM_005443.4 NP_005434.4 O43252 PAPS1_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 1 452 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1) 16 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.49e-05) ACCCAGAGGGTGGAGGAGGAG 0.542000 12 109 0 0 0.093190 0 0 KANK3 256949 broad.mit.edu 37 19 8389408 8389408 + Silent SNP G G A TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr19:8389408G>A ENST00000330915.3 - 10 2372 c.2307C>T c.(2305-2307)atC>atT p.I769I KANK3_ENST00000593649.1_Silent_p.I769I NM_198471.2 NP_940873.2 Q6NY19 KANK3_HUMAN KN motif and ankyrin repeat domains 3 769 breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 CCTCCAGGGCGATGGCCAGGG 0.637000 3 41 0 0 0.115264 0 0 TMPRSS4-AS1 0 broad.mit.edu 37 11 117916045 117916046 + RNA INS - - CA rs57274300 TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr11:117916045_117916046insCA ENST00000606951.1 - 0 195 TMPRSS4-AS1_ENST00000527695.1_RNA|TMPRSS4-AS1_ENST00000527329.1_RNA NR_038318.1 ATacacacatgcacacacacac 0.416 3 3 --- --- --- --- ZNF219 0 broad.mit.edu 37 14 21560753 21560758 + In_Frame_Del DEL GAGGCT GAGGCT - rs71794845 TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr14:21560753_21560758delGAGGCT ENST00000360947.3 - 3 1109_1114 c.698_703delAGCCTC c.(697-705)cca>c p.QPP233del ZNF219_ENST00000451119.2_In_Frame_Del_p.QPP233del|ZNF219_ENST00000421093.2_In_Frame_Del_p.QPP233del NM_016423.2 NP_057507.2 Q9P2Y4 ZN219_HUMAN zinc finger protein 219 233 Missing (in Ref. 3; AAH00694). negative regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Q233_P234delQP(3) breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2) 8 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08) GBM - Glioblastoma multiforme(265;0.0191) ggctggggtggaggctgaggctgagg 0.743 OREG0022565 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 5 --- --- --- --- RP11-434D2.3 0 broad.mit.edu 37 17 20451560 20451561 + RNA INS - - T TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr17:20451560_20451561insT ENST00000591705.1 + 0 2877_2878 TTTCCTGAATGTTCAGGAGGAC 0.515 2 4 --- --- --- --- PCSK4 54760 broad.mit.edu 37 19 1482365 1482366 + Frame_Shift_Del DEL CT CT - TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr19:1482365_1482366delCT ENST00000300954.5 - 14 1866_1867 c.1805_1806delAG c.(1804-1806)gfs p.E602fs NM_017573.3 NP_060043.2 Q6UW60 PCSK4_HUMAN proprotein convertase subtilisin/kexin type 4 602 proteolysis integral to membrane serine-type endopeptidase activity cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCACAGCCCCTCTGTGTCCCG 0.728 3 3 --- --- --- --- CRYBB2P1 0 broad.mit.edu 37 22 25855682 25855683 + RNA INS - - GTGT rs72063487 by1000genomes TCGA-CE-A13K-01A-11D-A10S-08 TCGA-CE-A13K-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14 b4558539-6baf-4d9d-a6a8-3b5f4d803141 g.chr22:25855682_25855683insGTGT ENST00000354451.2 + 0 366 CCTGGCAGCTGgtgtgtgtgtg 0.530 2 4 --- --- --- ---